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  • Rosacea Wikipedia
    Managing pretrigger events such as prolonged exposure to cool environments can directly influence warm-room flushing. [27] Medications [ edit ] Medications with good evidence include topical ivermectin and azelaic acid creams and brimonidine , and doxycycline and isotretinoin by mouth. [28] Lesser evidence supports topical metronidazole cream and tetracycline by mouth. [28] Metronidazole is thought to act through anti-inflammatory mechanisms, while azelaic acid is thought to decrease cathelicidin production. ... Retrieved 27 August 2008 . ^ a b van Zuuren, EJ; Fedorowicz, Z; Carter, B; van der Linden, MM; Charland, L (28 April 2015). "Interventions for rosacea" . ... S2CID 22421145 . ^ van Zuuren, EJ; Fedorowicz, Z; Carter, B; van der Linden, MM; Charland, L (28 April 2015). "Interventions for rosacea" .
    CAMP, TRPV4, HLA-DRA, BTNL2, IL17A, MRGPRX2, NLRP3, IL33, TRPV3, PPR1, OCA2, KLK5, TRPV1, VEGFA, VDR, VCAM1, TNF, TRIM21, LOC102723407, PSG2, ADAMDEC1, CALR, NHS, CYP19A1, CASP1, CD79A, CDX2, CEACAM5, CEACAM3, CEACAM7, CRP, DIO2, HLA-DRB1, ESR1, FGF2, GSTM1, GSTT1, HLA-DMA, HLA-DQA1, HLA-DQB1, LOC102724971
    • Rosacea Medlineplus
      Rosacea is a long-lasting (chronic) skin disease that affects the face, primarily the forehead, nose, cheeks, and chin. The signs and symptoms of rosacea vary, and they may come and go or change over time. There are three main types of rosacea, categorized by their primary signs and symptoms. Erythematotelangiectatic rosacea causes skin redness and warmth (flushing) and visible clusters of blood vessels (telangiectasia). Papulopustular rosacea causes skin redness, swelling, and pus-filled bumps called pustules.
    • Rosacea Mayo_clinic
      Overview Rosacea (roe-ZAY-she-uh) is a common skin condition that causes blushing or flushing and visible blood vessels in your face. It may also produce small, pus-filled bumps. These signs and symptoms may flare up for weeks to months and then go away for a while. Rosacea can be mistaken for acne, other skin problems or natural ruddiness. Rosacea can affect anyone. But it's most common in middle-aged white women. There's no cure for rosacea, but treatment can control and reduce the signs and symptoms.
  • Abortion In The Republic Of Ireland Wikipedia
    Those found guilty were dealt with severely by the courts, receiving long sentences of penal servitude, with one chemist with an extensive abortion practice in Merrion Square , Dublin in 1944 receiving a 15-year sentence that was reduced to 7 on appeal. [27] [28] [29] The Garda Commissioner's first annual report on crime published in 1947 made reference to the number of abortions that were performed illegally. [30] In the 1950s novels, autobiographies and works of non-fiction (including medical texts) that promoted or even described abortion were banned. [31] There were extremely few prosecutions for performing illegal abortion between 1952 and 1963, [32] but one of Ireland's best-known abortion providers, Mamie Cadden , was sentenced to death by hanging in 1957 – this was later commuted to life imprisonment – when one of her patients died. ... This Act permits terminations to be carried out up to 12 weeks of pregnancy; or where there is a risk to the life, or of serious harm to the health, of the pregnant woman; or where there is a risk to the life, or of serious harm to the health, of the pregnant woman in an emergency; or where there is a condition present which is likely to lead to the death of the foetus either before or within 28 days of birth. Mistaken cases of fatal foetal conditions [ edit ] In March 2019, a woman in Dublin was told her baby was likely to have Edwards syndrome , considered a fatal foetal condition, following a positive non-invasive prenatal test (NIPT) and a positive chorionic villus sampling (CVS) diagnostic test, the mother opted for an amniocentesis which was clear. ... Public opinion [ edit ] Main article: Societal attitudes towards abortion Several polls have been taken on the subject: A 1997 Irish Times /MRBI poll found that 18% believed that abortion should never be permitted, 77% believed that it should be allowed in certain circumstances (this was broken down into: 35% that one should be allowed in the event that the woman's life is threatened; 14% if her health is at risk; 28% that "an abortion should be provided to those who need it") and 5% were undecided. [77] A September 2004 Royal College of Surgeons survey for the Crisis Pregnancy Agency found that, in the under-45 age groups, 51% supported abortion on-demand, with 39% favouring the right to abortion in limited circumstances. ... Referendum Commission . 26 May 2018. Archived from the original on 28 May 2018 . Retrieved 27 May 2018 . ^ Lord, Miriam (25 May 2018). ... Retrieved 26 September 2017 . ^ "Annual Report of notifications in accordance with the Protection of Life During Pregnancy Act 2013" (Press release). Department of Health. 28 June 2018 . Retrieved 2 January 2019 . ^ "Annual Report of notifications in accordance with the Protection of Life During Pregnancy Act 2013" (Press release).
  • Albinism Wikipedia
    Critical Reviews in Plant Sciences . 28 (6): 393–409. doi : 10.1080/07352680903133252 . ... Archived from the original on February 2, 2015 . Retrieved January 28, 2015 . ^ Mäthger, L. M.; Denton, E. ... Archived from the original on January 28, 2015 . Retrieved January 24, 2015 . ^ a b Nasr, S. ... Retrieved January 18, 2015 . ^ "Feather Colors: What We See" Archived March 28, 2009, at the Wayback Machine by Dr. ... Retrieved December 6, 2010 . ^ a b Krieger, L. M. (November 28, 2010). "Albino redwoods hold scientific mystery" .
    AP3D1, TYR, MITF, LYST, SLC45A2, TYRP1, OCA2, AP3B1, HPS1, GPR143, HPS5, LRMDA, HPS4, HPS6, DTNBP1, BLOC1S3, EPG5, CACNA1F, EDNRB, MC1R, FGL1, RAB27A, PAX6, FRMD7, VN1R17P, DCT, MRGPRX1, GPRC6A, OXER1, SLC38A8, GPR151, MRGPRX4, MRGPRX3, TFF1, HPS3, TCOF1, AGFG1, IDS, LGR6, INS, RTEL1, BLOC1S6, LPAR3, PLXNA2, FZD4, GPR166P
    • Albinism Gard
      Albinism is a group of inherited disorders that results in little or no production of the pigment melanin, which determines the color of the skin, hair and eyes. Melanin also plays a role in the development of certain optical nerves, so all forms of albinism cause problems with the development and function of the eyes. Other symptoms can include light skin or changes in skin color; very white to brown hair; very light blue to brown eye color that may appear red in some light and may change with age; sensitivity to sun exposure; and increased risk of developing skin cancer. Albinism is caused by mutations in one of several genes, and most types are inherited in an autosomal recessive manner. Although there's no cure, people with the disorder can take steps to improve vision and avoid too much sun exposure.
    • Albinism Mayo_clinic
      Overview The term albinism usually refers to oculocutaneous (ok-u-low-ku-TAY-nee-us) albinism (OCA). OCA is a group of disorders passed down in families where the body makes little or none of a substance called melanin. The type and amount of melanin in your body determines the color of your skin, hair and eyes. Melanin also plays a role in the development and function of the eyes, so people with albinism have vision problems. Symptoms of albinism are usually seen in a person's skin, hair and eye color, but sometimes differences are slight.
  • Choroideremia Wikipedia
    Research [ edit ] History [ edit ] Choroideremia was first described in 1872 by an Austrian ophthalmologist, Ludwig Mauthner . [9] Initially, the condition was thought to be a developmental disorder which caused the absence of a majority of the choroid (hence the probable use of the ancient Greek suffix “eremia,” meaning barren land or desert). [9] After several decades, the non-progressive nature of the disease was called into doubt, eventually being rejected by Paymerer et al. in 1960. [9] [28] The CHM gene was identified and cloned in 1990 by Frans P.M. ... PMID 25359548 . ^ Guo, Hui; Li, Jisheng; Gao, Fei; Li, Jiangxia; Wu, Xinyi; Liu, Qiji (28 July 2015). "Whole-exome sequencing reveals a novel CHM gene mutation in a family with choroideremia initially diagnosed as retinitis pigmentosa" . ... PMID 24439297 . ^ Abigail Beall, 2014, "Gene therapy restores sight in people with eye disease," New Scientist (online), January 16, 2014, see [3] , accessed 23 April 2015. ^ Ewen Callaway, 2008, "Gene therapy success 'reverses' blindness," New Scientist (online), April 28, 2008, see [4] and [5] and [6] , accessed 23 April 2015. ^ CT.gov, 2014, "Gene Therapy for Blindness Caused by Choroideremia (Sponsor:University of Oxford): NCT01461213," at ClinicalTrials.gov, see [7] , accessed 23 April 2015. ^ Ghosh, Pallab (28 April 2016).
    CHM, POU3F4, IMPG2, PRPH2, EPHA2, UBE3B, IMPG1, BEST1, RPE, CHML, AGFG1, RAB27A, ACTB, RAB6A, AAVS1, PLXNA2, POTEF, RPE65, NOC2L, RAB38, ZC3HAV1, OPN4, RAB7B, LINC01194, IL1RL1, CCDC6, RAB7A, RAB27B, RHO, RET, UPF1, PTCH1, TAS2R38, MPZ, CD99, GDI1, F9, ERG, EGFR, CD14, RN7SL263P
    • Choroideremia Gene_reviews
      Summary Clinical characteristics. Choroideremia (CHM) is characterized by progressive chorioretinal degeneration in affected males and milder signs in carrier females. Typically, symptoms in affected males evolve from night blindness to peripheral visual field loss, with central vision preserved until late in life. Although carrier females are generally asymptomatic, signs of chorioretinal degeneration can be observed with careful fundus examination. These signs become more readily apparent after the second decade. Diagnosis/testing. The diagnosis of CHM can be made clinically, based on the fundus examination and family history consistent with X-linked inheritance.
    • Choroideremia Medlineplus
      Choroideremia is a condition characterized by progressive vision loss that mainly affects males. The first symptom of this condition is usually an impairment of night vision (night blindness), which can occur in early childhood. A progressive narrowing of the field of vision (tunnel vision) follows, as well as a decrease in the ability to see details (visual acuity). These vision problems are due to an ongoing loss of cells (atrophy) in the specialized light-sensitive tissue that lines the back of the eye (retina) and a nearby network of blood vessels (the choroid). The vision impairment in choroideremia worsens over time, but the progression varies among affected individuals.
    • Choroideremia Omim
      A number sign (#) is used with this entry because choroideremia (CHM) is caused by mutation in the CHM (REP1) gene (300390) on chromosome Xq21. Description Choroideremia is an X-linked disease that leads to the degeneration of the choriocapillaris, the retinal pigment epithelium, and the photoreceptor of the eye (Cremers et al., 1990). The characteristic lesion of choroideremia is chorioretinal scalloped atrophy in the midperipheral fundus, with preservation of the macula (Li et al., 2014). See also choroideremia, deafness, and mental retardation (303110), a contiguous gene deletion syndrome involving the CHM and POU3F4 (300039) genes on Xq21. X-linked deafness-2 with stapes fixation (DFNX2; 304400) is also caused by mutation in the CHM gene.
    • Choroideremia Gard
      Choroideremia is a genetic condition that causes vision loss. This disorder typically affects males. The first symptom is usually impairment of night vision ( night blindness ), which can occur in childhood. People with this disorder also experience narrowing of the field of vision (tunnel vision) and decrease in the ability to see details (visual acuity). The vision problems are due to loss of cells in the retina (light sensitive part of the eye) and choroid (blood vessels in the eye). The vision issues tend to get worse over time and usually lead to blindness in late adulthood.
    • Choroideremia Orphanet
      Choroideremia (CHM) is an X-linked chorioretinal dystrophy characterized by progressive degeneration of the choroid, retinal pigment epithelium (RPE) and retina. Epidemiology The prevalence is estimated between 1/50,000-1/100,000. Clinical description Affected males experience nyctalopia in the first or second decade of life followed by peripheral visual field constriction with progression from annular scotomas to concentric visual field loss. Impairment in visual acuity is eventually noticed by mid-adulthood. In parallel, fundus changes are observed that consist initially of pigmentary stippling and focal areas of choroid atrophy in the equatorial fundus. In the final stage, there are extensive degenerative changes of the RPE with only remnants of the choroidal vasculature apparent in the macula, far peripheral retina, and near the optic disc. In the advanced stages, the sclera becomes visible on fundus examination in the areas of total choroidal and RPE atrophy.
  • Occupational Burnout Wikipedia
    References ^ a b c d "Burn-out an "occupational phenomenon": International Classification of Diseases" . WHO . 28 May 2019 . Retrieved 2019-06-01 . ^ https://www.ncbi.nlm.nih.gov/books/NBK279286/ ^ Freudenberger, H.J. (1974). ... S2CID 42874270 . ^ https://www.who.int/news/item/28-05-2019-burn-out-an-occupational-phenomenon-international-classification-of-diseases ^ Koutsimani, P., Montgomery, A., & Georganta, K. (2019). ... (January 2013). "2394 – Burnout is a myth". European Psychiatry . 28 (Supplement 1): 1. doi : 10.1016/S0924-9338(13)77215-8 . ^ a b Liu, P.M., & Van Liew, D.A. (2003). ... Factors influencing health status or contact with health services" . icd.who.int . Retrieved 2019-05-28 . Categories in this chapter are provided for occasions when circumstances other than a disease, injury or external cause classifiable elsewhere are recorded as "diagnoses" or "problems." ... "Burnout-depression overlap: A review" . Clinical Psychology Review . 36 : 28–41. doi : 10.1016/j.cpr.2015.01.004 .
  • Variant Creutzfeldt–jakob Disease Wikipedia
    In June 2013 the government was warned that deaths—then at 176—could rise five-fold through blood transfusions. [16] On May 28, 2002, the United States Food and Drug Administration instituted a policy that excludes from donation anyone having spent at least six months in certain European countries (or three months in the United Kingdom) from 1980 to 1996. ... Despite this, the scientific consensus is that the risk is negligible, as there is no evidence Creutzfeldt–Jakob is sexually transmitted. [27] [28] [29] Other types of brains [ edit ] Eating other types of brains such as those from squirrels is not recommended due to potential concerns. [30] Mechanism [ edit ] Despite the consumption of contaminated beef in the UK being high, vCJD has infected a small number of people. ... PMID 12130612 . ^ Rowena Mason (April 28, 2013). "Mad cow infected blood 'to kill 1,000 ' " . ... The Observer . 8 August 2008. Archived from the original on 28 March 2017 . Retrieved 27 March 2017 . ^ "Man Dies from Extremely Rare Disease After Eating Squirrel Brains" .
    PRNP, ALDH1A1, H4C4, SNORA16B, KRT73, MSL3P1, CPED1, SRD5A3, ATF6, SNORD3A, TUBB2A, KLRC2, HLA-DQB1, C4BPA, PRDX2, CARD14, ABCB6, COX8A, STMN2, AHSP, TBP, CTSD, SPRN
    • Variant Creutzfeldt-Jakob Disease Gard
      Variant Creutzfeldt-Jakob disease (vCJD) is a type of Creutzfeldt-Jakob disease (CJD) characterized by early psychiatric symptoms and cognitive decline. All forms of CJD belong to a rare family of progressive neurodegenerative disorders that affect both humans and animals, called prion diseases . The term "prion" refers to abnormal proteins within the brain, called prion proteins . vCJD, described primarily in the United Kingdom and France, accounts for less than 1% of cases of CJD, and tends to affect younger people. It can result when someone is exposed to contaminated products. The infection responsible for the disease in cows ( bovine spongiform encephalitis ) is believed to be the same one responsible for vCJD in humans. Another variant, called the panencephalopathic form, occurs primarily in Japan and has a relatively long course, with symptoms often progressing for several years.
  • Constriction Ring Syndrome Wikipedia
    This allows the fatty tissue to naturally reposition itself under the skin. [28] “With complete circumferential constriction bands, it is recommended that a two-stage correction approach be used. ... Lymphedema, when present, will significantly improve within a few weeks of the first surgery.” [28] For the direct closure of the defect after dissecting a constriction band there are two different techniques: Triangular flaps; For this technique the circumference between the two borders must be measured. ... American Journal of Medical Genetics . 28 (3): 529–548. doi : 10.1002/ajmg.1320280302 . ... American Journal of Medical Genetics . 28 (3): 549–565. doi : 10.1002/ajmg.1320280303 .
    • Constricting Bands, Congenital Omim
      Temtamy and McKusick (1978) could find no evidence of a clear or simple genetic basis. After the work of Streeter (1930), the causative role of amniotic bands was discounted and the malformations, both the bands and the associated absence deformities, were thought to result from tissue necrosis, probably on a vascular basis. However, the work of Torpin (1968) made a modified form of the amniotic band theory plausible. A considerable body of observations indicated that rupture of the amnion and constriction of members which are displaced through holes in the amnion are involved. Amputated parts have been recovered in some instances. Gellis (1977) described a family in which both the father and 1 son had a ring constriction of the third left finger and a second family in which the fourth right finger was affected in father and son.
    • Constriction Rings Syndrome Orphanet
      Constriction rings syndrome is a congenital limb malformation disorder with an extremely variable clinical presentation characterized by the presence of partial to complete, congenital, fibrous, circumferential, constriction bands/rings on any part of the body, although a particular predilection for the upper or lower extremities is seen. Phenotypes range from only a mild skin indentation to complete amputation of parts of the fetus (e.g. digits, distal limb). Compression from the rings may lead to edema, skeletal anomalies (e.g. fractures, foot deformities) and, infrequently, neural compromise.
    • Amniotic Band Syndrome Gard
      Amniotic band syndrome refers to a condition in which bands develop from the inner lining of the amnion . The amnion is the sac that surrounds the baby in the womb. As the baby develops in the womb, the bands may attach to and affect the development of different areas of the body. This may result in constriction of the affected area or even amputation. The signs and symptoms vary greatly depending on the area(s) of the body involved and may include: shortened or absent digits (fingers and/or toes) or limbs (arms and/or legs), an opening in the abdomen through which various abdominal organs can protrude ( abdominal wall defects ), protrusion of a portion of the brain and its surrounding membranes through a skull defect ( encephalocele ), and cleft lip and/or palate . In most instances, the cause of amniotic bands remains unknown. Researchers have suggested two main theories to explain the development: the extrinsic theory and the intrinsic theory.
  • Sleep Disorder Wikipedia
    According to their results, TBI individuals are most disproportionately at risk for developing narcolepsy, obstructive sleep apnea, excessive daytime sleepiness, and insomnia. [22] The study's complete findings can be found in the table below: Source of data Sleep variable Community TBI Community TBI Sleep category N participants N participants P P Z prob Healthy controls Sleep disturbance Overall 66 85 .32 .56 3.02 .003 Sleep problem Sleep initiation 77 77 .05 .41 5.33 <.001 Excessive daytime sleepiness 85 99 .10 .24 2.65 .008 Community samples Sleep disturbance Overall 2187 1706 .41 .50 5.59 <.001 Sleep disorders Insomnia 1007 581 .10 .29 9.94 <.001 Hypersomnia 7954 212 .10 .28 8.38 <.001 Obstructive sleep apnoea 1741 283 .02 .25 15.51 <.001 Periodic limb movements 18,980 212 .04 .08 2.95 .003 Narcolepsy 18,980 152 .00b .04 17.11 <.001 Sleep problem Snoring 2629 65 .42 .60 3.56 <.001 Insomnia 6340 1001 .31 .50 11.8 <.001 Sleep maintenance 24,600 309 .27 .50 8.96 <.001 Sleep efficiency 1007 119 .27 .49 4.93 <.001 Sleep initiation 24,600 368 .27 .36 3.80 <.001 Nightmares 2187 133 .08 .27 7.43 <.001 Excessive daytime sleepiness 16,583 651 .09 .27 15.27 <.001 Early morning awakening 24,600 364 .18 .38 9.76 <.001 Sleep walking 4972 99 .02 .09 4.85 <.001 Sleep disorders and neurodegenerative diseases [ edit ] Neurodegenerative diseases have been often associated with sleep disorders, mainly when they are characterized by abnormal accumulation of alpha-synuclein , such as multiple system atrophy (MSA), Parkinson's disease (PD) and Lewy body disease (LBD). [23] [24] [25] [26] [27] [28] [29] For instance, people diagnosed with PD have often presented different kinds of sleep concerns, commonly regard to insomnia (around 70% of the PD population), hypersomnia (more than 50% of the PD population), and REM sleep behavior disorder (RBD) - that may affect around 40% of the PD population and it is associated with increased motor symptoms. [23] [24] [25] [26] [27] [29] Furthermore, RBD has been also highlighted as a strong precursor of future development of those neurodegenerative diseases over several years in prior, which seems to be a great opportunity for improving the treatments of the disease. [24] [26] Sleep disturbances have been also observed in Alzheimer's disease (AD), affecting about 45% of its population. [24] [26] [28] Moreover, when it is based on caregiver reports this percentage is even higher, about 70%. [30] As well as in PD population, insomnia and hypersomnia are frequently recognized in AD patients, which have been associated with accumulation of Beta-amyloid , circadian rhythm sleep disorders (CRSD) and melatonin alteration. [24] [26] [30] Additionally, changes in sleep architecture are observed in AD too. [24] [26] [28] Even though with ageing the sleep architecture seems to change naturally, in AD patients it is aggravated. ... The Lancet Neurology . 11 (10): 918–28. doi : 10.1016/S1474-4422(12)70187-4 . ... European Journal of Neurology, 22(8), 1242-1244. ^ a b c Wang, P., Wing, Y.K., Xing, J. et al. Aging Clin Exp Res (2016) 28: 951. https://doi.org/10.1007/s40520-015-0382-8 ^ a b c d McCarter, S., & Howell, J. (2017).
    GHRH, GHRHR, CLOCK
  • Obesity And Fertility Wikipedia
    In the absence of fertilization of a sperm, the endometrium lining will shed, and menstruation will occur in a 28-day cycle. Hyperandrogenism can disrupt this cycle and decrease follicular maturation, leading to irregular menstrual cycles (anovulatory cycles) and decreasing fertility. [11] Obesity in PCOS women amplifies hormonal and metabolic decline, [8] therefore decreasing fertility and oocyte quality in women. ... Due to the perceived biological associations between excess body fat and infertility, overweight and obese women's inability to conceive can be pre-judged by health care providers. [28] Women who are overweight and obese report that their infertility is attributed solely to their excess body weight and that providers may be unwilling to treat infertility in women who are overweight and obese until they lose weight. [28] [29] Of note, no formal guidelines exist from the American Society for Reproductive Medicine or the Society for Assisted Reproductive Technology that dictate when women should receive fertility treatment based on weight. [29] It has also been shown that obese women have higher rates of mood disorders compared to non-obese women. [30] Rates of mood disorders are even higher among women who are treated via in vitro fertilization (IVF) and increase further upon IVF failure. [30] Mood disorders, as well as medications used to treat mood disorders, can exacerbate hormonal and menstrual dysfunction, worsening outcomes of infertility management. [30] Men [ edit ] Sperm count and its relationship to pregnancy rate Numerous studies show the association between obesity in men and infertility. ... World Health Organization . Retrieved 2016-09-28 . ^ Pasquali R, Patton L, Gambineri A (December 2007). ... Journal of Reproduction and Fertility . 28 (2): 213–9. doi : 10.1530/jrf.0.0280213 .
  • Parkinsonian Gait Wikipedia
    Results indicate that this is primarily because L-dopa increases the threshold for FOG to occur but the fundamental pathophysiology for FOG did not change. [26] It has also been shown that other dopamine agonists like ropinirole , pramipexole and pergolide that have a strong affinity to D2 receptors (as opposed to L-dopa which has a strong D1 receptor affinity) increase the frequency of FOGs. [27] Effects on postural sway : Parkinson’s disease have abnormal postural sway in stance and treatment with levodopa increases postural sway abnormalities. [28] During movement, it has been shown that early autonomic postural disturbances are only partially corrected while the later occurring postural corrections are not affected by dopamine. ... DBS in the STN has been reported to reduce freezing of gait significantly at 1 and 2 year follow up. [35] Contradictory results have been reported on the effects on DBS on postural stability [28] [36] The results seem to be highly location specific. The studies which do report positive effects suggest that the effectiveness of DBS in improving postural stability is due to its ability to affect non-dopaminergic pathways (in addition to dopaminergic pathways) which are believed to cause postural sway in PD patients. [28] Several studies suggest that STN stimulation with low frequencies (60–80 Hz) better alleviates gait deficits than with the commonly used high frequencies (>130 Hz). [37] Other treatments strategies [ edit ] Attention strategies : By consciously paying more attention to walking and rehearsing each step before actually making it, PD patients have shown to improve their gait. ... "Ground reaction forces during ambulation in Parkinsonism: pilot study". Arch Phys Med Rehabil . 68 (1): 28–30. PMID 3800620 . ^ Ueno E.; Yanagisawa N.; Takami M. (1993).
  • Pesticide Poisoning Wikipedia
    See Note 1 Seizures are typically managed with lorazepam , phenytoin and phenobarbitol , or diazepam (particularly for organochlorine poisonings). [23] Gastric lavage is not recommended to be used routinely in pesticide poisoning management, as clinical benefit has not been confirmed in controlled studies; it is indicated only when the patient has ingested a potentially life-threatening amount of poison and presents within 60 minutes of ingestion. [28] An orogastric tube is inserted and the stomach is flushed with saline to try to remove the poison. ... In paraquat and diquat poisoning, however, oxygen is contraindicated. [23] [38] References [ edit ] ^ Ramesh C. Gupta (28 April 2011). Toxicology of Organophosphate & Carbamate Compounds . ... "Percutaneous penetration of some pesticides and herbicides in man". Toxicol Appl Pharmacol . 28 (1): 126–132. doi : 10.1016/0041-008x(74)90137-9 . PMID 4853576 . ^ a b c Ye, Ming; Beach, Jeremy; Martin, Jonathan; Senthilselvan, Ambikaipakan (28 November 2013). "Occupational Pesticide Exposures and Respiratory Healh" .
  • Burkitt Lymphoma Wikipedia
    Burkitt lymphoma is uncommon in adults, where it has a worse prognosis. [3] In 2006, treatment with dose-adjusted EPOCH with Rituximab showed promising initial results in a small series of patients (n=17), with a 100% response rate, and 100% overall survival and progression-free survival at 28 months (median follow-up). [24] Epidemiology [ edit ] Of all cancers involving the same class of blood cell , 2.3% of cases are Burkitt lymphoma. [25] Epstein-Barr virus infection is strongly correlated with this cancer. [26] Research [ edit ] Gene targets [ edit ] Unique genetic alterations promote cell survival in Burkitt lymphoma, distinct from other types of lymphoma. [27] These TCF3 and ID3 gene mutations in Burkitt correspond to a cell survival pathway that may be found to be amenable to targeted therapy . [28] References [ edit ] ^ synd/2511 at Who Named It? ... Pathogens (Basel, Switzerland) . 7 (1): 28. doi : 10.3390/pathogens7010028 . ... Pathogens (Basel, Switzerland) . 7 (1): 28. doi : 10.3390/pathogens7010028 .
    MYC, TCF3, PBX1, CDKN2A, IGH, TP53, PAX5, BAX, BCR, SMARCA4, ID3, BBC3, RHOA, KMT2A, ABL1, RUNX1, GNA13, PC, ETV6, FLT3, GATA3, HLA-C, HLF, A4GALT, SALL3, AFF1, FOXP1, AUTS2, ARID1A, CCT6B, FTCD, PDGFRA, PIK3R1, IKZF1, RET, PIP4K2A, FAS, MME, PIK3CG, CASP10, IRF4, IL10, PIK3CA, KRT20, PMS2, PIK3CD, PIK3CB, RASGRP1, PDLIM7, AICDA, CD40, MS4A1, PRKCD, BCL2, BCL6, FASLG, RHOH, RTEL1, IL4, MIR155, CD19, AKT1, SH2D1A, PWWP3A, SMUG1, MDM2, CD40LG, MCL1, ICAM1, FCER2, MIR155HG, CD38, PVT1, TCL1A, CD58, STAT3, BCL2L11, TCL1B, LGALS1, APCS, PIM1, HLA-A, EZH2, TGFB1, CD44, TNF, HSP90AA1, DNMT3B, MIR150, NFKB1, IGHV3-52, FGR, MDM4, LMO2, TLR9, CD274, IGK, VIM, IFNA1, IL13, IFNA13, NPR2, VEGFA, PTEN, CCND2, SOX11, TNFRSF8, LOC102723407, LONP1, CASP3, RBL2, CDKN1B, LOC102724971, CCND3, CD79B, MIR29A, CR2, DCLRE1C, ARHGAP24, SYK, TIMP1, HIF1A, TP73, IL6, YY1, HTC2, ZAP70, HSPA5, IGL, IFNG, IL18, KMT2D, KLRK1, ITGB2, SMARCA1, LEF1, NOS2, NOS1, NME1, BCL2L2, ATM, IGHV3-75, PTPA, MAPK1, BMI1, TNFSF13B, MGMT, PTPN6, IGKV3-20, VPREB3, APP, KIT, SLC16A1, DNER, ITGAL, NPC1, H3P10, CSF3, FHIT, FCGR3B, FCGR3A, CLEC4D, ERBB2, BCRP2, EGFR, EGF, E2F4, MIR146A, DUSP5, ATN1, DOK1, DNMT1, NQO1, MIR17, MIR21, CSF2, CDK4, MICA, KLRC4-KLRK1, BCL2L2-PABPN1, COMMD3-BMI1, ENTPD1, CD28, CD6, FH, INSR, TNFRSF13C, GBA, FOXO1, ADCYAP1R1, XIAP, DLEU1, OPN1MW2, TRIM13, DHRS9, EBI3, BIRC5, CCR2, TUBA1B, RNA28SN5, NR1I3, DLEC1, NUAK1, FCRL5, HDAC9, HERPUD1, CXADRP1, DLC1, COG1, BCRP3, C11orf58, MIR30B, BRD8, MIR34B, PPP1R13L, MIR17HG, PLK2, MASP2, PIM3, APEX1, ZFAS1, BIRC3, DCTN6, CXCL13, ZNRD2, NOP56, CIB1, MEF2B, KLF4, C4B_2, IL24, CAMK1, NR0B2, PRRT2, MIR4728, CDCA7, DEL13Q14, OPN1MW3, MIXL1, CDR3, BMS1P20, RNA28SN4, CXCR4, DAP3, ZNF7, RNA28S5, H3P23, VPREB1, LMO4, PSMG1, DYNLL1, SPAG9, MIR1204, MSC, SMC3, SLC16A3, TMED7-TICAM2, LINC01672, SLC16A4, NOL3, TNFSF10, TCF7L1, IL18R1, IL18RAP, TNFRSF6B, NLRP3, RAB11A, TNFSF9, MLLT11, WWP2, AKR1B10, WDR5, IL21, GCSAM, IL22, ADGRE2, MIRLET7C, SENP1, MIR127, MIR142, MIR143, SIRPA, SETD2, MCTS1, BACH2, CKS1BP7, TRDC, MIR145, CHAC1, TMED7, GMNN, ASPG, JAG1, PBK, CDCA7L, PINX1, QPCTL, PLIN2, HACE1, MIB1, FANCM, TICAM2, P2RY8, SERPINA9, NLK, SEC14L3, NBAS, HDAC7, ZC3H12D, TRDD3, RTL10, TRDJ1, SIRT4, MIR23A, MIR27B, CGB8, RBFOX2, SEC14L2, DUSP16, BRD4, TBC1D9, NAA15, KIFAP3, MIR28, MIR29B1, POLI, MIR29B2, MIR29C, RASSF1, APAF1, MIR197, DLL1, MCAT, IGHV1-12, TMEM132D, PIK3AP1, MRGPRF, IGHV4-34, POLM, APOBEC3C, HPGDS, E2F8, NAAA, AGO2, ALB, ALOX5, MIR15A, SMR3A, PHGDH, CGB5, CASP9, VAV1, OPN1MW, BVR1, HK2, HELLS, GSK3B, NR3C1, GPER1, GLI1, GLB1, GH1, GDNF, KAT2A, BTK, C4A, GATA2, GAPDH, G6PD, FRA8C, FN1, C4B, FLI1, FAU, FANCB, HLA-DQA1, HMGA1, JAK2, IGLC6, ISG20, IRF5, BMP6, ING1, IL13RA2, IL12RB2, BRCA1, IL2RA, IL2, IL1B, IGLC5, HNRNPK, IGLC4, IGLC3, IGLC2, IGLC1, BRAF, IFNAR2, IFI27, IDH2, ID4, ZFP36L2, CA2, ETS1, ESR2, CD70, CENPC, CDKN2B, SLC25A20, CDKN1A, CDK6, CDK2, CDC25C, ADGRE5, CD81, CD79A, CD69, ERN1, CD59, CD47, CAD, CD36, TNFSF8, CD22, CALCA, CAPG, CAT, CASR, CGB3, CHGB, CKS1B, CMA1, EPS8, EPHB2, EP300, ENO1, ELN, E2F1, DUT, DUSP2, DDX3X, DDT, DDIT3, DAP, CXADR, CST3, CSF3R, CSE1L, MAPK14, CRYZ, ATF2, KLF6, PLK3, JAK1, JUNB, UROD, RASA1, SDC1, CCL20, CCL17, SCN7A, SAT1, RPS6, ROS1, RGS13, RGS1, ATF4, RANGAP1, SELP, RAG1, RAF1, PVR, PTPRC, PTK7, PTGS2, PSMD9, PSMB8, PSMB6, PSMA6, CXCL12, SKP2, LAMC2, TFE3, UCK2, TYRO3, TYK2, TSG101, TSC1, TRAF3, TPP2, TGFBR2, TGFA, TFRC, TFAP4, SLC3A2, TRD, ARNTL, TAP2, TAP1, STAT6, SRM, SPG7, SOAT1, SMO, ARR3, MAP2K1, MAPK10, MAPK11, MKI67, NCAM1, NAGLU, NAB2, MYCN, BCRP4, MST1R, MSH3, ABCC1, BDNF, PRDM1, MIF, MAPK3, MHS4, MET, CD46, MCM2, MAX, SMAD1, LIG4, LGALS9, LGALS4, LCN2, NCL, NFATC2, NFKB2, NFKBIA, ABL2, PRKCB, PRKCA, PRKAR1A, POU2F2, PMAIP1, PLK1, PLCG2, RERE, ATP2A3, B2M, BCL2A1, PIGA, ABCB1, PDK1, BCL5, PCBP1, BCL7A, BCL9, NOTCH2, NOTCH1, RPN1
    • Burkitt Lymphoma Gard
      Burkitt lymphoma (BL) is a very fast-growing type of cancer. It is a form of B-cell non-Hodgkin's lymphoma . There are 3 recognized forms of BL: Endemic (African) - the most common form, found mainly in central Africa, where it is associated with the Epstein Barr virus (EBV) . It is most common in children. This form often manifests as enlargement of the jaw or facial bones. Sporadic - a rarer form, seen in all parts of the world, that often develops in the abdomen with bone marrow involvement. The kidneys, ovaries, breasts or other organs may also be involved. This form commonly affects children and young adults.
    • Burkitt Lymphoma Omim
      A number sign (#) is used with this entry because of evidence that Burkitt lymphoma can be caused by somatic mutation in the MYC gene (190080) in addition to translocations involving the MYC gene and immunoglobulin genes (see 147220). Description Burkitt lymphoma is a rare, aggressive B-cell lymphoma that accounts for 30 to 50% of lymphomas in children but only 1 to 2% of lymphomas in adults (Harris and Horning, 2006). It results from chromosomal translocations that involve the MYC gene (190080) and either the lambda or the kappa light chain immunoglobulin genes (147220, 147200). Burkitt lymphoma is causally related to the Epstein-Barr virus (EBV), although the pathogenetic mechanisms are not clear. Clinical Features Anderson et al. (1986) described 2 sisters in an American family who died of Burkitt lymphoma at ages 11 and 22 years.
    • Leukemia, Acute Lymphoblastic, Susceptibility To, 3 Omim
      A number sign (#) is used with this entry because of evidence that susceptibility to acute lymphoblastic leukemia-3 (ALL3) is conferred by heterozygous mutation in the PAX5 gene (167414) on chromosome 9p13. For a general phenotypic description and a discussion of genetic heterogeneity of acute lymphoblastic leukemia, see 613065. Clinical Features Shah et al. (2013) reported 2 unrelated families in which multiple individuals in several generations had childhood onset of B-cell acute lymphoblastic leukemia (B-ALL). Relapse was common. One of the families was of Puerto Rican descent and the other was of African American descent. Gu et al. (2019) characterized 2 subtypes of B-ALL, PAX5alt (PAX5-altered) and PAX5 pro80 to arg (P80R), that are defined by PAX5 alterations (see MOLECULAR GENETICS).
    • Burkitt Lymphoma Orphanet
      Burkitt lymphoma is a rare form of malignant mature B-cell non-Hodgkin lymphoma. Epidemiology In Europe and north America it represents around half of all malignant non-Hodgkin lymphoma in children and around 2% in adults. Two incidence peaks occur: one in childhood/adolescence and the second after the age of 40 years. In Europe the standardized incidence ratio is 1/530,000 for individuals aged between 0 and 14 years and 1/670,000 for individuals aged between 15 and 19 years. Males are affected more than females. Clinical description Patients with HIV in whom antiviral treatment is ineffective are particularly susceptible to Burkitt lymphoma.
  • Ascariasis Wikipedia
    The larva of Ascaris lumbricoides developing in the egg Ascaris lumbricoides adult worms (with measuring tape for scale) Ascaris lumbricoides adult worms Ascaris egg, incubation process: The Ascaris egg incubation process consists in placing the egg in a controlled environment, at 26 °C during 28 days, in acidic conditions. This process allows for evaluation of an egg to determine if it is viable or not, by watching the bipartition of the nucleus, and the growth of the larva. ... Due to the large quantity of eggs laid, diagnose can generally be made using only one or two fecal smears . [28] The diagnosis is usually incidental when the host passes a worm in the stool or vomit. ... Archived from the original on 4 December 2014 . Retrieved 28 November 2014 . ^ Ziegelbauer K, Speich B, Mäusezahl D, Bos R, Keiser J, Utzinger J (January 2012). ... Archived (PDF) from the original on 2013-02-28. ^ Conterno LO, Turchi MD, Corrêa I, Monteiro de Barros Almeida RA, et al.
    GOT2, IFNG, STAT6
    • Ascariasis Mayo_clinic
      Overview Ascariasis (as-kuh-RIE-uh-sis) is a type of roundworm infection. These worms are parasites that use your body as a host to mature from larvae or eggs to adult worms. Adult worms, which reproduce, can be more than a foot (30 centimeters) long. Ascariasis worm Ascariasis worms are typically pink or white with tapered ends. Female worms can be more than 15 inches (40 centimeters) long and a little less than a quarter inch (6 millimeters) in diameter.
  • Alexithymia Wikipedia
    Among the adult control, only 17% was impaired; none of them severely. [27] [28] Fitzgerald & Bellgrove pointed out that, "Like alexithymia, Asperger's syndrome is also characterised by core disturbances in speech and language and social relationships". [29] Hill & Berthoz agreed with Fitzgerald & Bellgrove (2006) and in response stated that "there is some form of overlap between alexithymia and ASDs". ... Alexithymic traits in AS may be linked to clinical depression or anxiety ; [28] the mediating factors are unknown and it is possible that alexithymia predisposes to anxiety. [31] On the other hand, while the total alexithymia score as well as the difficulty in identifying feelings and externally oriented thinking factors are found to be significantly associated with ADHD , and while the total alexithymia score, the difficulty in identifying feelings, and the difficulty in describing feelings factors are also significantly associated with symptoms of hyperactivity/impulsivity, there's no significant relationship between alexithymia and inattentiveness symptom. [32] There are many more psychiatric disorders that overlap with alexithymia. ... Single study prevalence findings for other disorders include 63% in anorexia nervosa , [36] 56% in bulimia , [36] 45% [37] to 50% [38] in major depressive disorder , 34% in panic disorder , [39] 28% in social phobia, [39] and 50% in substance abusers . [40] Alexithymia is also exhibited by a large proportion of individuals with acquired brain injuries such as stroke or traumatic brain injury . [41] [42] [43] Alexithymia is correlated with certain personality disorders , particularly schizoid , avoidant , dependent and schizotypal , [44] [45] substance use disorders , [46] [47] some anxiety disorders [48] and sexual disorders [49] as well as certain physical illnesses, such as hypertension , [50] inflammatory bowel disease [51] and functional dyspepsia . [52] Alexithymia is further linked with disorders such as migraine headaches, lower back pain, irritable bowel syndrome , asthma, nausea, allergies and fibromyalgia . [53] An inability to modulate emotions is a possibility in explaining why some people with alexithymia are prone to discharge tension arising from unpleasant emotional states through impulsive acts or compulsive behaviors such as binge eating , substance abuse , perverse sexual behavior or anorexia nervosa . [54] The failure to regulate emotions cognitively might result in prolonged elevations of the autonomic nervous system (ANS) and neuroendocrine systems , which can lead to somatic diseases. [53] People with alexithymia also show a limited ability to experience positive emotions leading Krystal (1988) and Sifneos (1987) to describe many of these individuals as anhedonic . [55] Causes [ edit ] It is unclear what causes alexithymia, though several theories have been proposed. ... Munich: Lawrence Erlbaum Associates pp. 28–31 ^ Hoppe KD, Bogen JE (1977). "Alexithymia in twelve commissurotomized patients". Psychotherapy and Psychosomatics . 28 (1–4): 148–55. doi : 10.1159/000287057 .
    THAS, SLC6A4, COMT, SCLY, KRT7, TAL1, ANKK1, BDNF, DRD2, OXTR, YWHAE, CHST3, BAG3, ARSD, ARHGAP32, SF3B1, TET2, ATF7IP, TP53AIP1, GOLPH3, ASXL1, TMEM88B, TNF, ACSM3, TBCA, REN, TAS2R38, PAFAH1B1, IL18, IL6, IL1B, IL1A, HTR1A, ESR1, ACE, CASP8, CAST, SERPING1, LOC110806262
  • Hyperkalemia Wikipedia
    Ineffective elimination can be hormonal (in aldosterone deficiency) or due to causes in the kidney that impair excretion. [28] Increased extracellular potassium levels result in depolarization of the membrane potentials of cells due to the increase in the equilibrium potential of potassium. ... Mayo Clinic. 18 November 2011. Archived from the original on 28 February 2014 . Retrieved 28 February 2014 . ^ "What is Hyperkalemia?" ... "Causes and evaluation of hyperkalemia in adults" . UpToDate . Retrieved 28 September 2017 . ^ Hwa Lee, Chang; Ho Kim, Gheun (31 December 2007).
    CYP17A1, INS, WNK4, CA12, NNT, CUL3, ABCB6, SLC30A9, TXNRD2, LPIN1, KLHL3, SLC2A1, INVS, SAMD9, MRAP, WNK1, STAR, SCNN1G, CACNA1S, SCNN1B, SCNN1A, SCN4A, RYR1, NR3C2, MC2R, HSD3B2, GABRA3, CYP11B2, CYP11B1, CYP11A1, CLCN5, KCNJ18
  • Oppositional Defiant Disorder Wikipedia
    Although the association between family factors and conduct problems is well established, the nature of this association and the possible causal role of family factors continues to be debated. [17] In a number of studies, low socioeconomic status has also been associated with disruptive behaviors such as ODD. [25] [26] Other social factors such as neglect, abuse, parents that are not involved, and lack of supervision can also contribute to ODD. [27] Externalizing problems are reported to be more frequent among minority-status youth, a finding that is likely related to economic hardship, limited employment opportunities, and living in high-risk urban neighborhoods. [17] Studies have also found that the state of being exposed to violence was also a contribution factor for externalizing behaviors to occur. [25] [26] [28] Diagnosis [ edit ] For a child or adolescent to qualify for a diagnosis of ODD, behaviors must cause considerable distress for the family or interfere significantly with academic or social functioning. ... Psychology of Addictive Behaviors . 28 (1): 139–153. doi : 10.1037/a0032632 . ... Manhattan Psychology Group . Retrieved 2015-01-28 . ^ a b Steiner, Hans; Remsing, Lisa; The Work Group on Quality Issues (January 2007). ... Child Care Health Dev . 38 (5): 611–28. doi : 10.1111/j.1365-2214.2012.01366.x .
    DRD4, S100B, OSR1, SLC6A4, SNAP25, MAOA, SLC6A3, DRD5, COMT, WASF2, SCLY, SMC2, TAL1, LXN, TPH2, LINC01194, TCN1, BDNF, SYT1, OXTR, MAOB, KRT7, INS, NR3C1, ENPEP, DRD2, LOC110806262
  • Aggressive Periodontitis Wikipedia
    The impairment of their phagocytic activity results in persistent inflammation in periodontal tissues. [23] Hyper-responsive macrophage phenotype . [15] Due to the increased responsiveness, the macrophages produce excessive levels of inflammatory mediator and cytokine , such as prostaglandin E2 (PGE2) and interleukin-1β (IL-1B). [15] Their hyperactivity is associated with periodontal tissue destruction and bone loss. [24] Progression of attachment loss and bone loss may be self-arresting. [15] In some patients, the disease may burnout without any cause-related therapy. [25] Clinical & Radiographic Features of Localised and Generalized Aggressive Periodontitis [ edit ] Localised Aggressive Periodontitis [ edit ] Clinical Features [ edit ] LAP begins around the age of puberty where there is interproximal loss of attachment of the first molar, and or incisors [26] on at least two permanent teeth (one which is a first molar) and no involvement of more than two teeth other than the first molars and incisors, [26] [27] lack of inflammation and evidence of deep periodontal pocket with advanced bone loss. [26] There is also a relatively fast progression of periodontal tissue loss. [27] With an increase in the age of the patient, there may be progression of the disease involving the adjacent teeth and lead to the patient developing GAP. [28] [29] The periodontal tissue also exhibits minimal signs of inflammation clinically [30] and show a robust response with serum antibodies to pathogens. [27] The amount of plaque present is inconsistent with the amount and severity of tissue destruction [26] [27] but with a high plaque pathogenicity due to the presence of increased levels of bacteria like Aggregatibacter actinomycetemcomitans (A.a) and Porphyromonas Gingivalis (P.g). [26] Secondary features of LAP may also be present including; [26] diastema formation with disto-labial migration of the incisors increased mobility of the affected teeth, sensitivity due to exposed root, deep dull pain that radiates to the jaw periodontal abscess with lymph node enlargement Radiographic Features [ edit ] Radiographically, the periodontal lesion often presents with alveolar bone loss in a horizontal pattern at the interproximal surface of the permanent first molars [26] [27] [28] and usually horizontal bone pattern of bone loss at the interproximal surface of the incisors as the bone is thinner than at the interproximal surface of the molars. [27] The alveolar bone loss patterns are usually bilateral and similar on both sides and has been referred to as being a ‘mirror-image’ pattern. [28] [27] In advanced cases the alveolar bone loss may be depicted as a horizontal bone loss pattern radiographically. [27] [28] Generalized Aggressive Periodontitis [ edit ] Clinical Features [ edit ] Mostly in individuals under 30 years old [31] In GAP, the clinical appearance of the disease resembles chronic periodontitis. ... PMID 20042739 . ^ Asano, Masahiro; Asahara, Yoji; Kirino, Akinori; Ohishi, Mika; Akimaru, Noriko; Hama, Hideki; Sury, Yono; Shionoya, Akemi; Kido, Jun-ichi (2003-09-28). "Case Report of an Early-onset Periodontitis Patient Showing Self-Arrest of Alveolar Bone Loss after Puberty" .
    CTSC, POSTN, SIGLEC5, IL10, IL1A, TNF, IL1B, OSTCP2, IL6, TLR4, IL4, FPR1, IL13, CXCL8, GLT6D1, VDR, CD14, IL1RN, IFNG, DEFB1, ITGB2, IL36RN, CCL2, HLA-DRB1, HLA-DQB1, IL37, S100A8, CTLA4, BRINP3, CDKN2B-AS1, CAMP, MMP8, NOS2, IL17C, WNT5A, HLA-DQA1, CCR5, IL23A, CSF1, STAT1, RBM45, FCGR3B, FCGR3A, TNFRSF11B, NOD2, PLG, ITGAM, IGF1R, HSPB3, ADAM23, IL1R2, CNOT8, ZNF136, DEFA1A3, DEFA1B, VCAM1, SFXN1, TYK2, TPO, TP53, TNFRSF1B, AIM2, CCR2, TLR2, TIMP2, TRBV20OR9-2, SLC6A4, SELE, CCL3, DEFB4B, SCN4A, TGFBRAP1, PES1, CIR1, AP1S3, GPRIN1, UBE3D, MMP28, MMP25, POPDC2, EEFSEC, SLAMF7, BEGAIN, ADGRG6, SELENOS, SMPD3, TREM1, HSPA14, IL20, KRT25, SLC23A1, IL19, PTGS2, CKAP2L, PYDC2, GPRC6A, KRT23, IL17RA, IFNL2, IFNL3, IFNL1, UCN2, H19, IL24, NOD1, ALOX5, MPO, PRTN3, FCGR2A, DECR1, DEFA1, DEFB4A, ATN1, ELN, ESR2, FCAR, GATA3, HSPB1, GC, GNAS, CXCR3, GSTM1, GSTT1, HLA-A, HLA-B, DGKA, CYP1A1, CYBA, CTSD, BAD, CFB, PRDM1, BTF3P11, CASP8, CASP9, CD28, CDB2, CDKN2A, CDKN2B, CDX2, CLU, CCR6, KLF6, CSF3, HLA-C, HSPB2, HTRA1, COX2, CXCL9, MKLN1, MMP1, MMP2, MMP3, MMP9, APOH, MUC2, HSPD1, MUC5AC, MUC6, NOTCH1, PAFAH1B1, SERPINA1, PI3, PON1, MBL2, SMAD7, SMAD4, LTF, IL1R1, IL2, IL2RA, IL12RB2, IL17A, IL18, INHA, CXCL10, IRF5, ISG20, ITGAL, KCNJ5, LCN2, LRPAP1, LTA, MTCO2P12
    • Periodontitis, Aggressive, 1 Omim
      Inheritance Beaty et al. (1987) performed segregation analysis of data from 28 families ascertained through a proband with juvenile periodontitis.
  • Seborrhoeic Dermatitis Wikipedia
    ., that seen in polycystic ovary syndrome ). [26] [27] In addition, seborrhoea, as well as acne , are commonly associated with puberty due to the steep increase of androgen levels at that time. [28] In accordance with the involvement of androgens in seborrhoea, antiandrogens, such as cyproterone acetate , [29] spironolactone , [30] flutamide , [31] [32] and nilutamide , [33] [34] are highly effective in alleviating the condition. [26] [35] As such, they are used in the treatment of seborrhoea, [26] [35] particularly severe cases. [36] While beneficial in seborrhoea, effectiveness may vary with different antiandrogens; for instance, spironolactone (which is regarded as a relatively weak antiandrogen) has been found to produce a 50% improvement after three months of treatment, whereas flutamide has been found to result in an 80% improvement within three months. [26] [32] Cyproterone acetate is similarly more potent and effective than spironolactone, and results in considerable improvement or disappearance of acne and seborrhoea in 90% of patients within three months. [37] Systemic antiandrogen therapy are generally used to treat seborrhoea only in women, and not in men, as these medications can result in feminization (e.g., gynecomastia ), sexual dysfunction , and infertility in males. [38] [39] In addition, antiandrogens theoretically have the potential to feminize male fetuses in pregnant women, and for this reason, are usually combined with effective birth control in sexually active women who can or may become pregnant. [37] Antihistamines [ edit ] Antihistamines are used primarily to reduce itching , if present. ... Retrieved 20 October 2017 . ^ a b c d e f g Okokon, EO; Verbeek, JH; Ruotsalainen, JH; Ojo, OA; Bakhoya, VN (28 April 2015). "Topical antifungals for seborrhoeic dermatitis" . ... "Seborrheic dermatitis-Looking beyond Malassezia" . Exp. Dermatol . 28 (9): 991–1001. doi : 10.1111/exd.14006 . ... Journal of the European Academy of Dermatology and Venereology : JEADV . 28 (1): 16–26. doi : 10.1111/jdv.12197 .
    ARVCF, TBX1, KIAA1324L, JMJD1C, TMC8, CARMIL2, ZNF750, MCCC2, TMC6, TRAF3IP2, CIB1, RBM8A, SEC24C, XPA, UFD1, BTD, HIRA, SLCO2A1, IL7, COMT, GP1BB, GRM3, HPGD, MAST4, PIK3CA, RREB1, ATOD1, MPZL3, IL17A, CXCL8, ANP32B, NFE2L2, TNF, IL1A, TNFSF13, POMC, GABPA, EPGN, IL1B
    • Seborrheic Dermatitis Mayo_clinic
      Overview Seborrheic (seb-o-REE-ik) dermatitis is a common skin condition that mainly affects your scalp. It causes scaly patches, inflamed skin and stubborn dandruff. It usually affects oily areas of the body, such as the face, sides of the nose, eyebrows, ears, eyelids and chest. This condition can be irritating but it's not contagious, and it doesn't cause permanent hair loss. Seborrheic dermatitis may go away without treatment. Or you may need to use medicated shampoo or other products long term to clear up symptoms and prevent flare-ups. Seborrheic dermatitis is also called dandruff, seborrheic eczema and seborrheic psoriasis.
  • Premature Birth Mayo_clinic
    Moderately preterm, born between 32 and 34 weeks of pregnancy. Very preterm, born between 28 and 32 weeks of pregnancy. Extremely preterm, born before 28 weeks of pregnancy. ... Weight, length and head circumference by gestational age for boys Gestational age Weight Length Head circumference 40 weeks 7 lbs., 15 oz. (3.6 kg) 20 in. (51 cm) 13.8 in. (35 cm) 35 weeks 5 lbs., 8 oz. (2.5 kg) 18.1 in. (46 cm) 12.6 in. (32 cm) 32 weeks 3 lbs., 15.5 oz. (1.8 kg) 16.5 in. (42 cm) 11.6 in. (29.5 cm) 28 weeks 2 lbs., 6.8 oz. (1.1 kg) 14.4 in. (36.5 cm) 10.2 in. (26 cm) 24 weeks 1 lb., 6.9 oz. (0.65 kg) 12.2 in. (31 cm) 8.7 in. (22 cm) Weight, length and head circumference by gestational age for girls Gestational age Weight Length Head circumference 40 weeks 7 lbs., 7.9 oz. (3.4 kg) 20 in. (51 cm) 13.8 in. (35 cm) 35 weeks 5 lbs., 4.7 oz. (2.4 kg) 17.7 in. (45 cm) 12.4 in. (31.5 cm) 32 weeks 3 lbs., 12 oz. (1.7 kg) 16.5 in. (42 cm) 11.4 in. (29 cm) 28 weeks 2 lbs., 3.3 oz. (1.0 kg) 14.1 in. (36 cm) 9.8 in. (25 cm) 24 weeks 1 lb., 5.2 oz. (0.60 kg) 12.6 in. (32 cm) 8.3 in. (21 cm) Special care If you give birth to a preterm baby, your baby will likely need to stay in a special nursery unit at the hospital.
    TNF, IL4, IL6, CAT, OGG1, EDN1, PTGS2, MMP9, SOD2, MBL2, LTF, ADAMTS2, SF3B4, PEX16, KMT2B, TMEM94, FIG4, MED12, ACTA1, ZMPSTE24, KLHL41, WDR4, MAGED2, SLC27A4, NIPBL, COG4, TRIP4, FOXH1, AIMP1, SMC3, SIX3, SLC12A1, TDGF1, TGFB1, TGIF1, TPM3, TSHR, TUB, ZIC2, BSND, LZTR1, SMC1A, LAGE3, FZD4, PEX3, CNTNAP1, DNAH11, PEX11B, SLC17A5, ABCA12, TPRKB, DLL1, TP53RK, ARHGAP31, DOCK6, NLRC4, EEFSEC, IFIH1, WDR73, DISP1, STRADA, TBCK, NLRP3, CDON, KLHL40, ESCO2, ADCY4, HYLS1, COL24A1, EOGT, KIF7, RNU4ATAC, MICOS10-NBL1, ARID1B, PRR12, NUP107, LMOD3, RPS19, ASCC1, WAC, SUFU, NDUFB11, MAGEL2, DLL4, SARS2, TMEM70, BANP, PNPO, SETD5, ASXL2, CHD7, FLVCR2, OSGEP, PEX26, NUP133, HDAC8, SHH, RPL10, LRP5, HOXD13, FLI1, FLNB, MTOR, GAS1, GBA, GLI2, GNAQ, GNAS, HRAS, FGF8, IGHMBP2, RBPJ, ITGB4, KCNJ1, KRAS, LMNA, ALB, MECP2, FGFR1, FBN1, KMT2A, COL1A2, ATP5F1D, BCR, BRAF, CAPN1, CLCN7, CLCNKA, CLCNKB, COL1A1, COL3A1, DYRK1A, COL5A1, COL5A2, COL11A1, CRKL, CYP11A1, DHCR7, DYNC1H1, SLC26A3, MIPEP, SNHG22, ATP6, MAP2K1, PEX10, PEX13, PEX14, ATP8B1, ABCB4, PLEC, PMM2, MAPK1, MAP2K2, PEX1, PTCH1, PTH1R, PTPN11, PEX19, PEX2, PEX5, RAD21, RIT1, PEX6, PEX12, NOTCH2, NODAL, NDUFB3, NEB, NDP, MUSK, MYH7, MYO5B, NBL1, NOTCH1, LTA, SLC23A1, RLN1, CFB, TLR2, TLR4, IL1RN, IL13, IL6R, VEGFA, IL1B, IL1A, PPARG, SLC23A2, NR3C1, GDF15, MTHFR, CXCL5
    • Preterm Birth Wikipedia
      Neurological problems include apnea of prematurity , hypoxic-ischemic encephalopathy (HIE), retinopathy of prematurity (ROP), [27] developmental disability , transient hyperammonemia of the newborn , cerebral palsy and intraventricular hemorrhage , the latter affecting 25% of babies born preterm, usually before 32 weeks of pregnancy. [28] Mild brain bleeds usually leave no or few lasting complications, but severe bleeds often result in brain damage or even death. [28] Neurodevelopmental problems have been linked to lack of maternal thyroid hormones , at a time when their own thyroid is unable to meet postnatal needs. [29] Cardiovascular complications may arise from the failure of the ductus arteriosus to close after birth: patent ductus arteriosus (PDA). ... Water can be carefully provided to prevent dehydration but no so much to increase risks of side effects. [143] In terms of respiratory support, there may be little or no difference in the risk of death or chronic lung disease between high flow nasal cannulae (HFNC) and continuous positive airway pressure (CPAP) or nasal intermittent positive pressure ventilation (NPPV). [144] For extremely preterm babies (born before 28 weeks' gestation), targeting a higher versus a lower oxygen saturation range makes little or no difference overall to the risk of death or major disability. [145] Babies born before 32 weeks' probably have a lower risk of death from bronchopulmonary dysplasia if they have CPAP immediately after being born, compared to receiving either supportive care or assisted ventilation. [146] One review found that when premature infants are given osteopathic manipulations , they are less likely to require as lengthy of a hospital stay than if they are not manipulated. [147] There is insufficient evidence for or against placing preterm stable twins in the same cot or incubator (co-bedding). [148] Nutrition [ edit ] In a 2012 policy statement, the American Academy of Pediatrics recommended feeding preterm infants human milk , finding "significant short- and long-term beneficial effects," including lower rates of necrotizing enterocolitis (NEC). [149] In the absence of evidence from randomised controlled trials about the effects of feeding preterm infants with formula compared with mother's own breast milk, data collected from other types of studies suggest that mother's own breast milk is likely to have advantages over formula in terms of the baby's growth and development. [150] It is unclear if fortification of breast milk improves outcomes in preterm babies, though it may speed growth. [151] Supplementing human milk with extra protein may increase short-term growth but the longer-term effects on body composition, growth and brain development are uncertain. [152] The evidence from clinical trials is uncertain regarding the effects on preterm babies' growth of supplementing human milk with carbohydrate [153] and fat. [154] When a mother's breastmilk is not available, formula is probably better than donor breast milk for preterm babies in terms of weight gain, linear growth and head growth but there may be little or no difference in terms of neurodevelopmental disability, death or necrotising enterocolitis. [155] There is some indication that preterm babies who cannot breastfeed may do better if they are fed only with diluted formula compared to full strength formula but the clinical trial evidence remains uncertain. [156] Higher protein formula (between 3 and 4 grams of protein per kilo of body weight) may be more effective than low protein formula (less than 3 grams per kilo per day) for weight gain in formula-fed low birth weight infants. [157] There is limited evidence to support prescribing a preterm formula for the preterm babies after hospital discharge. [158] Hearing assessment [ edit ] The Joint Committee on Infant Hearing (JCIH) state that for preterm infants who are in the neonatal intensive care unit (NICU) for a prolonged time should have a diagnostic audiologic evaluation before they are discharged from the hospital. [159] Well babies follow a 1-2-3 month benchmark timeline where they are screened, diagnosed, and receiving intervention for a hearing loss.
  • Hypogonadotropic Hypogonadism 1 With Or Without Anosmia Omim
    Colorblindness was also segregating in families described by Kallmann et al. (1944); however, the information was too limited to give conclusive evidence on possible X-linkage of this syndrome. De Morsier (1954) collected 28 reported cases of agenesis of the olfactory lobes in which complete autopsy was performed and found that abnormalities of the sexual organs, mainly cryptorchidism and testicular atrophy, had been noted in 14. ... Pittman (1966) found anosmia in 16 of 28 cases of hypogonadotropic hypogonadism. ... Since therapeutic success with substitution therapy, leading to endogenous sex-steroid secretion and even reproduction, is probably age dependent (Rogol et al., 1980), early diagnosis is important. In a 28-year-old man with Kallmann syndrome, Oppermann et al. (1987) caused the induction and maintenance of spermatogenesis and biologic paternity by intranasal administration of gonadotropin-releasing hormone (152760) in low dose. ... In a clinical assessment and molecular analysis of KAL1 and FGFR1 (136350, mutations in which cause KS (HH2), 147950) in 28 patients with Kallmann syndrome, Sato et al. (2004) found submicroscopic deletions at Xp22.3 involving VCXA (300533), STS (300747), KAL1, and OA1 (300808) in 3 familial cases and 1 sporadic male case affected by a contiguous gene syndrome.
    WDR11, PROKR2, ANOS1, CHD7, FGFR1, PROK2, FGF8, SOX10, KISS1R, TACR3, SEMA3A, NSMF, CCDC141, FEZF1, HESX1, FLRT3, SOX3, OTX2, SOX2, ARNT2, DCC, DUSP6, HS6ST1, SPRY4, IL17RD, FGF17, GNRHR, GNRH1, KISS1, GHRH, CSHL1, NR5A1, SERPINA4, STS, NR0B1, PRKAR2A, FN1, SSTR4, SEMA7A, BRD2, ADRA2B, ADRA1A, TUBB3, PLXNA1, BRS3, EDNRA, GPR42, IHH, ACKR3, CXCR6, LPAR2, NTN1, NRP1, SEMA3E, EBF2, RMST, TSHZ1, PALM2AKAP2, LINC01672, PROP1, NRP2, SCEL, AMH, ANK1, AXL, CD44, CD55, EMX1, EMX2, FGF1, GLI3, ANOS2P, LEP, LEPR, NDN, NT5E, NTRK1, PAX2, PCSK1, POMC, PRL, RMRP, ROBO1, SHOX, SIX3, RN7SL263P
    • Hypogonadotropic Hypogonadism 16 With Or Without Anosmia Omim
      A number sign (#) is used with this entry because of evidence that susceptibility to hypogonadotropic hypogonadism-16 with or without anosmia (HH16) can be conferred by variation in the SEMA3A gene (603961) on chromosome 7, sometimes in association with mutations in other genes, e.g., KAL1 (300836) and FGFR1 (136350). Description Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic hypogonadotropic hypogonadism can be caused by an isolated defect in gonadotropin-releasing hormone (GNRH; 152760) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by Raivio et al., 2007).
    • Hypogonadotropic Hypogonadism 6 With Or Without Anosmia Omim
      A number sign (#) is used with this entry because autosomal dominant hypogonadotropic hypogonadism-6 with or without anosmia (HH6) is caused by heterozygous mutation in the fibroblast growth factor-8 gene (FGF8; 600483) on chromosome 10q24, sometimes in association with mutation in another gene, e.g., FGFR1 (136350). Description Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic hypogonadotropic hypogonadism can be caused by an isolated defect in gonadotropin-releasing hormone (GNRH; 152760) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by Raivio et al., 2007).
    • Kallmann Syndrome 1 Gard
      Kallmann syndrome 1 is an inherited disorder characterized by delayed or absent puberty and an impaired sense of smell. Other symptoms may include color blindness , cleft lip or palate , abnormal eye movements, hearing loss, failure of one of the kidneys to develop, mirror image hand movements, abnormalities of tooth development, and infertility . This disorder is a form of hypogonadotropic hypogonadism . Affected males are usually born with a small penis and undescended testicles. Affected females usually do not begin menstruating at puberty and have little or no breast development. Kallmann syndrome 1 is the most common type of Kallmann syndrome (there are four types identified at this time).
    • Septo-Optic Dysplasia Spectrum Orphanet
      Septooptic dysplasia (SOD) is a clinically heterogeneous disorder characterized by the classical triad of optic nerve hypoplasia, pituitary hormone abnormalities and midline brain defects. Epidemiology Incidence is estimated at 1/10,000 live births. Clinical description Severity varies and only 30% of patients manifest the complete clinical triad with many patients having associated findings. Some patients present at birth with SOD associated with multiple congenital anomalies, whereas others present during childhood with growth failure and/or visual anomalies (most frequently strabismus or nystagmus). The optic nerve hypoplasia can be uni- or bilateral (57% and 32% of cases, respectively) and significant visual impairment occurs in 23% of patients. Hypopituitarism is present in 62-80% of patients and although growth hormone deficiency (leading to short stature in childhood) is the most frequent endocrine anomaly, additional hormone insufficiencies may develop (thyroid-stimulating, adrenocorticotropic and gonadotropin-releasing hormone deficiencies).
    • Hypogonadotropic Hypogonadism 22 With Or Without Anosmia Omim
      A number sign (#) is used with this entry because of evidence that hypogonadotropic hypogonadism-22 with or without anosmia (HH22) is caused by homozygous mutation in the FEZF1 gene (613301) on chromosome 7q31. Description Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic hypogonadotropic hypogonadism is caused by an isolated defect in gonadotropin-releasing hormone (GNRH; 152760) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by Raivio et al., 2007).
    • Hypogonadotropic Hypogonadism 14 With Or Without Anosmia Omim
      A number sign (#) is used with this entry because of evidence that hypogonadotropic hypogonadism-14 with or without anosmia (HH14) can be caused by heterozygous mutation in the WDR11 gene (606417) on chromosome 10q26. Description Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic hypogonadotropic hypogonadism can be caused by an isolated defect in gonadotropin-releasing hormone (GNRH; 152760) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by Raivio et al., 2007).
    • Kallmann Syndrome Orphanet
      Kallmann syndrome (KS) is a developmental genetic disorder characterized by the association of congenital hypogonadotropic hypogonadism (CHH) due to gonadotropin-releasing hormone (GnRH) deficiency, and anosmia or hyposmia (with hypoplasia or aplasia of the olfactory bulbs). Epidemiology The prevalence is estimated at 1/8,000 males and 1/40,000 females, but is probably underestimated. Clinical description Most cases are diagnosed at the time of puberty due to lack of sexual development, but KS may also be suspected in infancy in males with cryptorchidism, micropenis or associated non reproductive signs. The main clinical features consist of the absence of complete spontaneous puberty and a partial or total impairment of the sense of smell (anosmia) in both sexes. Untreated adult males usually have decreased bone density and muscle mass, decreased testicular volume (< 4 mL), erectile dysfunction, diminished libido and infertility.
    • Kallmann Syndrome Wikipedia
      Any problems with the development of the olfactory nerve fibres will prevent the progression of the GnRH releasing neurons towards the brain. [26] Diagnosis [ edit ] Diagnosing KS and other forms of CHH is complicated by the difficulties in distinguishing between a normal constitutional delay of puberty or a case of KS/CHH. [27] [4] [28] The diagnosis is often one of exclusion found during the workup of delayed puberty . [29] [30] [31] In males, the use of age appropriate levels of testosterone can help to distinguish between a case of KS/CHH from a case of delayed puberty.
    • Kallmann Syndrome Gard
      Kallmann syndrome (KS) is a condition that causes hypogonadotropic hypogonadism (HH) and an impaired sense of smell. HH affects the production of the hormones needed for sexual development. It is present from birth and is due to deficiency of gonadotropin-releasing hormone (GnRH). KS is often diagnosed at puberty due to lack of sexual development. It may first be suspected in infancy in males with undescended testicles or a small penis. Symptoms in untreated, adult males may include decreased bone density and muscle mass; small testicles; erectile dysfunction ; low sex drive; and infertility.
    • Hypogonadotropic Hypogonadism 8 With Or Without Anosmia Omim
      A number sign (#) is used with this entry because hypogonadotropic hypogonadism-8 with or without anosmia (HH8) is caused by homozygous or compound heterozygous mutation in the GPR54 gene (KISS1R; 604161) on chromosome 19p13, sometimes in association with mutation in other genes, e.g., IL17RD (606807). Description Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic hypogonadotropic hypogonadism can be caused by an isolated defect in gonadotropin-releasing hormone (GNRH; 152760) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by Raivio et al., 2007).
    • Hypogonadotropic Hypogonadism 2 With Or Without Anosmia Omim
      A number sign (#) is used with this entry because hypogonadotropic hypogonadism-2 with or without anosmia (HH2) is caused by heterozygous mutation in the gene encoding fibroblast growth factor receptor-1 (FGFR1; 136350) on chromosome 8p11, sometimes in association with mutation in other genes, e.g., FGF8 (600483) and GNRHR (138850). Description Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic hypogonadotropic hypogonadism can be caused by an isolated defect in gonadotropin-releasing hormone (GNRH; 152760) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by Raivio et al., 2007).
    • Hypogonadotropic Hypogonadism 17 With Or Without Anosmia Omim
      A number sign (#) is used with this entry because hypogonadotropic hypogonadism-17 with or without anosmia (HH17) can be caused by heterozygous mutation in the SPRY4 gene (607984) on chromosome 5q31, sometimes in association with mutations in other genes, e.g., FGFR1 (136350) and DUSP6 (602748). Description Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic hypogonadotropic hypogonadism can be caused by an isolated defect in gonadotropin-releasing hormone (GNRH; 152760) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by Raivio et al., 2007).
    • Hypogonadotropic Hypogonadism 18 With Or Without Anosmia Omim
      A number sign (#) is used with this entry because of evidence that hypogonadotropic hypogonadism-18 with or without anosmia (HH18) is caused by heterozygous or homozygous mutation in the IL17RD gene (606807) on chromosome 3p14, sometimes in association with mutation in other genes, e.g., FGFR1 (136350) and KISS1R (604161). Description Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic hypogonadotropic hypogonadism can be caused by an isolated defect in gonadotropin-releasing hormone (GNRH; 152760) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by Raivio et al., 2007).
    • Hypogonadotropic Hypogonadism 19 With Or Without Anosmia Omim
      A number sign (#) is used with this entry because hypogonadotropic hypogonadism-19 with or without anosmia (HH19) can be caused by heterozygous mutation in the DUSP6 gene (602748) on chromosome 12q22, sometimes in association with mutations in other genes, e.g., FGFR1 (136350) and SPRY4 (607984). Description Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic hypogonadotropic hypogonadism can be caused by an isolated defect in gonadotropin-releasing hormone (GNRH; 152760) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by Raivio et al., 2007).
    • Hypogonadotropic Hypogonadism 20 With Or Without Anosmia Omim
      A number sign (#) is used with this entry because hypogonadotropic hypogonadism-20 with or without anosmia (HH20) can be caused by heterozygous mutation in the FGF17 gene (603725) on chromosome 8p21, sometimes in association with mutations in other genes, e.g., FGFR1 (136350), HS6ST1 (604846), and FLRT3 (604808). Description Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic hypogonadotropic hypogonadism can be caused by an isolated defect in gonadotropin-releasing hormone (GNRH; 152760) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by Raivio et al., 2007).
    • Kallmann Syndrome Medlineplus
      Kallmann syndrome is a condition characterized by delayed or absent puberty and an impaired sense of smell. This disorder is a form of hypogonadotropic hypogonadism, which is a condition resulting from a lack of production of certain hormones that direct sexual development. These hormones are normally made in a part of the brain called the hypothalamus. Males born with hypogonadotropic hypogonadism often have an unusually small penis (micropenis) and undescended testes (cryptorchidism). At puberty, most affected individuals do not develop secondary sex characteristics, such as the growth of facial hair and deepening of the voice in males, the start of monthly periods (menstruation) and breast development in females, and a growth spurt in both sexes.
    • Hypogonadotropic Hypogonadism 21 With Or Without Anosmia Omim
      A number sign (#) is used with this entry because hypogonadotropic hypogonadism-21 with or without anosmia (HH21) can be caused by heterozygous mutation in the FLRT3 (604808) gene on 20p11, sometimes in association with mutations in other genes, e.g., FGFR1 (136350), HS6ST1 (604846), and FGF17 (603725). Description Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic hypogonadotropic hypogonadism can be caused by an isolated defect in gonadotropin-releasing hormone (GNRH; 152760) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by Raivio et al., 2007).
    • Hypogonadotropic Hypogonadism 15 With Or Without Anosmia Omim
      A number sign (#) is used with this entry because of evidence that susceptibility to hypogonadotropic hypogonadism-15 with or without anosmia (HH15) can be conferred by variation in the HS6ST1 gene (604846) on chromosome 2q14, sometimes in association with mutations in other genes, e.g., FGFR1 (136350) and NELF (608137). Description Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic hypogonadotropic hypogonadism can be caused by an isolated defect in gonadotropin-releasing hormone (GNRH; 152760) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by Raivio et al., 2007).
    • Hypogonadotropic Hypogonadism 9 With Or Without Anosmia Omim
      A number sign (#) is used with this entry because autosomal dominant hypogonadotropic hypogonadism-9 with or without anosmia (HH9) is caused by heterozygous mutation in the NELF gene (NSMF; 608137) on chromosome 9q34, sometimes in association with mutation in other genes, e.g., FGFR1 (136350) and HS6ST1 (604846). Description Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic hypogonadotropic hypogonadism can be caused by an isolated defect in gonadotropin-releasing hormone (GNRH; 152760) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by Raivio et al., 2007).
    • Hypogonadotropic Hypogonadism 11 With Or Without Anosmia Omim
      A number sign (#) is used with this entry because hypogonadotropic hypogonadism-11 with or without anosmia (HH11) can be caused by homozygous mutation in the TACR3 gene (162332) on chromosome 4q24. Description Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic hypogonadotropic hypogonadism can be caused by an isolated defect in gonadotropin-releasing hormone (GNRH; 152760) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by Raivio et al., 2007).
    • Hypogonadotropic Hypogonadism 4 With Or Without Anosmia Omim
      A number sign (#) is used with this entry because autosomal dominant hypogonadotropic hypogonadism-4 with or without anosmia (HH4) is caused by heterozygous mutation in the prokineticin-2 gene (PROK2; 607002) on chromosome 3p13, sometimes in association with mutation in another gene, e.g., PROKR2 (607123). Description Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic hypogonadotropic hypogonadism can be caused by an isolated defect in gonadotropin-releasing hormone (GNRH; 152760) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by Raivio et al., 2007).
    • Hypogonadotropic Hypogonadism 5 With Or Without Anosmia Omim
      A number sign (#) is used with this entry because autosomal dominant hypogonadotropic hypogonadism-5 with or without anosmia (HH5) is caused by heterozygous mutation in the chromodomain helicase DNA-binding protein-7 gene (CHD7; 608892) on chromosome 8q12. Description Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic hypogonadotropic hypogonadism can be caused by an isolated defect in gonadotropin-releasing hormone (GNRH; 152760) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by Raivio et al., 2007).
    • Hypogonadotropic Hypogonadism 3 With Or Without Anosmia Omim
      A number sign (#) is used with this entry because hypogonadotropic hypogonadism-3 with or without anosmia (HH3) is caused by heterozygous mutation in the G protein-coupled prokineticin receptor-2 gene (PROKR2; 607123) on chromosome 20p12, sometimes in association with mutation in another gene, e.g., KAL1 (300836). Description Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic hypogonadotropic hypogonadism can be caused by an isolated defect in gonadotropin-releasing hormone (GNRH; 152760) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by Raivio et al., 2007).
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