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  • Ehlers-Danlos Syndrome, Musculocontractural Type, 1 Omim
    The brother, who had mitral valve prolapse with moderate insufficiency, died at age 28 years from fulminant endocarditis despite prophylaxis. ... Mean age at the first visit was 13.4 years, with a range of 4 to 28 years. Scoliosis was seen in 8 patients (66.7%), with severe scoliosis in 1.
    CHST14, DSE
    • Ehlers-Danlos Syndrome, Musculocontractural Type, 2 Omim
      A number sign (#) is used with this entry because of evidence that Ehlers-Danlos syndrome musculocontractural type 2 (EDSMC2) is caused by homozygous mutation in the DSE gene (605942) on chromosome 6q22. Description The musculocontractural type of Ehlers-Danlos syndrome is characterized by progressive multisystem fragility-related manifestations, including joint dislocations and deformities; skin hyperextensibility, bruisability, and fragility, with recurrent large subcutaneous hematomas; cardiac valvular, respiratory, gastrointestinal, and ophthalmologic complications; and myopathy, featuring muscle hypoplasia, muscle weakness, and an abnormal muscle fiber pattern in histology in adulthood, resulting in gross motor developmental delay (summary by Muller et al., 2013). For a discussion of genetic heterogeneity of the musculocontractural type of Ehlers-Danlos syndrome, see EDSMC1 (601776). Clinical Features Muller et al. (2013) studied a 2-year-old Indian boy, born of first-cousin parents, who exhibited facial dysmorphism consisting of frontal bossing, open anterior fontanel, downward-slanting palpebral fissures, telecanthus, bluish sclerae, high-arched palate, tent-shaped lips, dental crowding, brachycephaly, and prominent ears, as well as arachnodactyly, adducted thumbs, joint hyperlaxity, inguinal hernia, and congenital bilateral talipes equinovarus. Echocardiography showed a patent foramen ovale, and CT scan of the brain revealed generalized mild cerebral atrophy.
    • Musculocontractural Ehlers-Danlos Syndrome Gard
      Adducted thumb and clubfoot syndrome (ATCS) is an autosomal recessive connective tissue disorder characterized by congenital malformations, contractures of thumbs and feet, a typical facial appearance, and normal cognitive development. This condition is caused by mutations in the CHST14 gene.
    • Musculocontractural Ehlers-Danlos Syndrome Orphanet
      A rare systemic disease characterized by congenital multiple contractures, characteristic craniofacial features (like large fontanel, hypertelorism, downslanting palpebral fissures, blue sclerae, ear deformities, high palate) evident at birth or in early infancy, and characteristic cutaneous features like skin hyperextensibility, skin fragility with atrophic scars, easy bruising, and increased palmar wrinkling. Additional features include recurrent/chronic dislocations, chest and spinal deformities, peculiarly shaped fingers, colonic diverticula, pneumothorax, and urogenital and ophthalmological abnormalities, among others. Molecular testing is obligatory to confirm the diagnosis.
  • Premature Ovarian Failure 1 Omim
    This second woman had a family history of premature ovarian failure; her mother, who underwent premature ovarian failure at 28 years, shared the deletion. The early diagnosis of familial X deletions causing POF allowed for the prediction of impending menopause and the implementation of maneuvers to advance conception. ... Among 109 female premutation carriers, Hundscheid et al. (2000) found that POF had occurred in 23 (28%) of 82 with paternal inheritance and only 1 (3.7%) of 23 with maternal inheritance.
    FMR1, CYP2C19, NR5A1, NFE2L2, WT1, XPNPEP2, MCM9
    • Fragile X-Associated Primary Ovarian Insufficiency Medlineplus
      Fragile X-associated primary ovarian insufficiency (FXPOI) is a condition that affects women and is characterized by reduced function of the ovaries. The ovaries are the female reproductive organs in which egg cells are produced. As a form of primary ovarian insufficiency, FXPOI can cause irregular menstrual cycles, early menopause, an inability to have children (infertility), and elevated levels of a hormone known as follicle stimulating hormone (FSH). FSH is produced in both males and females and helps regulate the development of reproductive cells (eggs in females and sperm in males). In females, the level of FSH rises and falls, but overall it increases as a woman ages.
  • Pleural Empyema Wikipedia
    In a study including 78 children with pleural empyema, the causative micro-organism could be identified using direct culture of fresh pleural fluid in 45% of patients, with an additional 28% using PCR on pleural fluid of negative cultures. [10] Pneumococcal antigen detection in pleural fluid samples by latex agglutination can also be useful for rapid diagnosis of pneumococcal empyema. ... Clinical Infectious Diseases . 42 (8): 1135–40. doi : 10.1086/502680 . PMID 16575731 . ^ a b c d "UOTW #28 - Ultrasound of the Week" . Ultrasound of the Week . 3 December 2014 .
    GPT, SHH, SMC4, UCN3
    • Pleural Empyema Orphanet
      A rare pulmonary condition characterized by accumulation of pus in the pleural cavity, most commonly as a consequence of pneumonia, but also trauma and surgical procedures. Clinical signs and symptoms depend on host factors, as well as the nature of the causative microorganism, among others, and include cough, chest pain, dyspnea, and fever.
  • Dermatomyositis Wikipedia
    Often, cutaneous disease persists after adequate control of the muscle disease. [ medical citation needed ] The risk of death from the condition is much higher if the heart or lungs are affected. [14] [16] Epidemiology [ edit ] Incidence of DM peaks at ages 40–50, but the disease can affect people of all ages. [20] [3] It tends to affect more women than men. [3] The prevalence of DM ranges from one to 22 per 100,000 people. [21] [22] [23] History [ edit ] The diagnostic criteria were proposed in 1975 and became widely adopted. [6] [24] Amyopathic DM, also called DM sine myositis, was named in 2002. [6] Society and culture [ edit ] Opera singer Maria Callas (1923–1977) suffered from dermatomyositis from 1975 until her death. [25] Actor Laurence Olivier (1907–1989) suffered from dermatomyositis from 1974 until his death. [26] American football running back Ricky Bell (1955–1984), the runner-up for the Heisman Trophy in 1976, and the number-one choice in the NFL draft in 1977, died at the age of 29 from heart failure caused by this disease. [27] Rob Buckman (1948–2011) a doctor, comedian, author, and the president of the Humanist Association of Canada . [28] [29] Research [ edit ] As of 2016, research was ongoing into causes for DM, as well as biomarkers ; [30] clinical trials were ongoing for use of the following drugs in DM: ajulemic acid (Phase II), adrenocorticotropic hormone gel (Phase IV, open label), IMO-8400, an antagonist of Toll-like receptor 7,8 and 9 (Ph II), abatacept (Phase IV, open label), and sodium thiosulfate (Phase II). [6] References [ edit ] ^ a b c d e f g h i j k l m n o p q r s "Dermatomyositis" . ... PMID 1089199 . ^ "Greek Reporter: 'Maria Callas did not kill herself from grief for Onassis, a rare disease cost her career and life ' " . GR Reporter. 28 December 2010. Archived from the original on 4 January 2015 .
    TNF, IL1B, IL1A, HLA-B, C2, C9, ANGPTL2, HLA-DPB1, CPN1, PIP, TRIM33, HLA-DRB1, IFIH1, HLA-DPA1, IFNA1, TRIM21, IFNA13, PLAAT4, IFNB1, IL17A, MORC3, VEGFA, DDX58, ROBO3, FOXP3, IL2, NT5C1A, IFNG, IL6, TGFB1, CCL2, CRP, RBM45, TP53, TRIM24, TLR4, TLR3, TGM2, IL10, IL2RA, STAT4, CD163, IL4, RBM14, TNFSF13B, SMUG1, LILRB1, CCL21, RIEG2, IL18, CXCL10, ISG20, LGALS3, MBL2, PUF60, CABIN1, MMP9, DCPS, MUC1, CACYBP, KANK2, RBM14-RBM4, IFN1@, FSD1, BLK, MIR146A, IL31, CD40LG, CLEC4C, CHI3L1, TP53INP1, DMD, FSD1L, FAM167A, TSACC, HSPD1, HLA-DQA1, SLURP1, KHDRBS1, TNFSF12-TNFSF13, MIR223, ISG15, TRIM28, MIR206, IGAN1, MIR200C, MPC1, NFAT5, KRT20, STING1, KDELR1, CD83, SOCS3, USP18, MBD2, EIF2B5, MIR133B, WG, SQSTM1, MIR146B, MIR193B, LOC654780, POTEF, CCR2, TNFSF12, AOC3, DYSF, CXCR4, BTG3, H19, ANKRD55, UCN2, TLR7, SLC2A10, CKLF, IL21, HERC5, HSPA14, DCTN4, MCHR2, IL22, IL21R, CD207, RTRAF, CD274, ATP5IF1, BANK1, AGO2, NECAP2, IL1RAPL2, PTPN22, PRRT2, NLRP3, NUP62, RMI2, TLR9, IL31RA, GLIS3, RNPC3, SYNM, BEST1, ACR, VDR, IFI6, DAG1, ACE, DHX9, DNASE1L3, ELANE, ERBB3, FABP3, FBN1, FCGR3A, GARS1, IL6ST, CXCR3, GTF2H1, GZMB, HGF, HLA-A, HLA-C, HMGB1, HPRT1, ICAM1, CTSL, CTSG, CTLA4, CCN2, ACTN3, AGER, ALB, ALOX5, ANG, AOC2, ATP5F1E, CAMP, CAST, CASP1, CASP6, MS4A1, CD28, CD34, CD40, CD44, CHIT1, CCR7, COL4A5, CCN1, IL15, TYK2, SOD1, RIT2, S100A11, S100B, CCL17, CCL19, CXCL11, ACTB, FSCN1, SOAT1, SPP1, IRF5, STAT1, ADAM17, TRBV20OR9-2, TERT, TIMP1, TNFRSF1B, TPO, TRAF6, TTN, PTGS2, PTGS1, PRKCB, PRKCA, KARS1, MB, MECP2, MEFV, MMP1, MMP2, MMP7, MMP8, MPO, MRC1, MX1, MYH2, NOS2, PDCD1, PKM, PLCL1, PMS1, POMC, SRGN, SFPQ
    • Dermatopolymyositis Wikipedia
      Dermatopolymyositis Other names PM/DM [1] Specialty Rheumatology Dermatopolymyositis is a family of myositis disorders that includes polymyositis and dermatomyositis . As such, it includes both a distinctive skin rash and progressive muscular weakness. [2] It is a rare disease. References [ edit ] ^ Chraibi S, Ibnabdeljalil H, Habbal R, Bennis A, Tahiri A, Chraibi N (November 1998). "Pericardial tamponade as the first manifestation of dermatopolymyositis". Ann Med Interne (Paris) . 149 (7): 464–6. PMID 9921402 . ^ Tymms KE, Webb J (December 1985).
    • Dermatomyositis Mayo_clinic
      Overview Dermatomyositis (dur-muh-toe-my-uh-SY-tis) is an uncommon inflammatory disease marked by muscle weakness and a distinctive skin rash. The condition can affect adults and children. In adults, dermatomyositis usually occurs in the late 40s to early 60s. In children, it most often appears between 5 and 15 years of age. Dermatomyositis affects more females than males. There's no cure for dermatomyositis, but periods of symptom improvement can occur. Treatment can help clear the skin rash and help you regain muscle strength and function.
    • Dermatomyositis Orphanet
      A type of idiopathic inflammatory myopathy characterized by evocative skin lesions and symmetrical proximal muscle weakness. Epidemiology Annual incidence is estimated between 1 to 10 new cases/million population/year, and prevalence between 1/50,000 and 1/10,000. Dermatomyositis (DM) is more common in women than in men (2:1). In the United States, a Black-to-Caucasian ratio of 3:1 has been reported. Clinical description Onset is generally in adulthood, in some cases earlier (Juvenile DM, see this term). Patients typically present a heliotrope rash (erythema of eyelids with or without edema) and Gottron's papules (lichenoid papules over knuckles and sometimes knees, elbows), violaceous erythema (on extensor surfaces and face), poikiloderma (photoexposed areas), and periungual telangiectasias.
    • Dermatomyositis Gard
      Dermatomyositis is an autoimmune condition that causes skin changes and muscle weakness. Symptoms can include a red skin rash around the eyelids, red bumps around the joints, and muscle weakness in the arms and legs. Dermatomyositis is most common in adults between ages 40 and 60, or in children between ages 5 and 15. Muscle weakness gets worse over time and can lead to stiff joints and muscle wasting. The cause for dermatomyositis is unknown. Diagnosis is made through a clinical exam and microscopic examination of a piece of skin and muscle.
  • Abortion In Kansas Wikipedia
    The US Supreme Court did allow for only one doctor in the case of an emergency. [10] In 2018, the Kansas Supreme Court ruled on the state's 2015 abortion ban. [28] Clinic history [ edit ] Number of abortion clinics in Kansas by year See also: Abortion clinic Between 1982 and 1992, the number of abortion clinics in the state decreased by eight, going from 23 in 1982 to fifteen in 1992. [29] In 2014, there were four abortion clinics in the state. [30] In 2014, 97% of the counties in the state did not have an abortion clinic. ... Kansas State House Abortion Act invokes shaky science for political gain" . Slate Magazine . Retrieved 28 June 2015 . ^ "Misinformed Consent: The Medical Accuracy of State-Developed Abortion Counseling Materials" . 25 October 2006. ^ "TRAP Laws Gain Political Traction While Abortion Clinics—and the Women They Serve—Pay the Price" .
  • Culture-Bound Syndrome Wikipedia
    In a 130-page report on the condition commissioned by the government and published in 2006, a team of psychologists, political scientists, and sociologists hypothesized that it was a culture-bound syndrome. [28] A startle disorder similar to latah, called imu (sometimes spelled imu: ), is found among Ainu people , both Sakhalin Ainu and Hokkaido Ainu. [29] [30] A condition similar to piblokto, called menerik [ ru ] (sometimes meryachenie ), is found among Yakuts , Yukaghirs , and Evenks living in Siberia. [31] See also [ edit ] Psychology portal Cross-cultural psychiatry Cross-cultural psychology Cultural competence in healthcare Mass psychogenic illness Hikikomori Hi-wa itck Medical anthropology Neurasthenia Zen sickness References [ edit ] ^ a b Diagnostic criteria for research , p. 213–225 ( WHO 1993) ^ Porta, Miquel, ed. (2008). ... Challenging the Medicalization of Women's Bodies Archived 2011-06-28 at the Wayback Machine Journal article by Alia Offman, Peggy J.
  • Early Childhood Caries Wikipedia
    Journal of the California Dental Association . 44 (1): 16–28. PMC 4778976 . PMID 26897901 . ^ Crystal, Yasmi; Niederman, Richard (Jan 2019). ... Available from: www.icohirp.com ^ a b Dorri, Mojtaba; Martinez-Zapata, Maria José; Walsh, Tanya; Marinho, Valeria Cc; Sheiham Deceased, Aubrey; Zaror, Carlos (December 28, 2017). "Atraumatic restorative treatment versus conventional restorative treatment for managing dental caries" .
    IL6, TNF, AGRP, PSAP, SCLT1, LRRCC1, ANLN, CD2AP, KLK4, MMP20, ARTN, TUFT1, TIMP2, TIMP1, PTPRH, MTRR, ALOX15, MTR, MMP9, MBL2, LTF, LCN2, CXCL8, ELK4, ELK3, EEC1, DEFB4A, DAG1, CA6, DEFB4B
  • Refractive Error Wikipedia
    October 2010. Archived from the original on 28 July 2016 . Retrieved 29 July 2016 . ^ "Care of the Patient with Amblyopia" (PDF) . ... "Epidemiology of myopia" . Eye (London, England) . 28 (2): 202–8. doi : 10.1038/eye.2013.280 .
    RASGRF1, GJD2, ACTC1, RBFOX1, SHISA6, ZMAT4, C14orf39, PTPRR, CHDH, PCCA, CNDP2, KCNQ5, RORB, MYO1D, LINC00989, LAMA2, GRIA4, ANKRD34C-AS1, CACNA1D, CHRNG, TJP2, RDH5, PAX6, HGF, PLXNA2, PRSS56, TOX, ECEL1, B3GAT3, WDHD1, HERC2, DKK1, VANGL2, FZD5, SLC38A1, ARID2, MT1DP, HCP5B, SMIM10L2A, ZC3H11B, SMIM10L2B, SLC14A2, AAVS1, WNT2B, VIPR2, APC, APLP2, AXL, PLK3, CTNNB1, DNAH9, ERG, GRM6, LRP2, MET, MMP2, MMP3, MMP9, MYOC, MYP2, NRL, SERPINI2, MAP2K1, RHO, RS1, SOX2, AURKA, TIMP1, TIMP2, PHLDA2, SFRP1
  • Starvation Wikipedia
    Year 1970 1980 1990 2004 2007 2009 Proportion of undernourished people in the less-developed world [17] [21] [22] 37 % 28 % 20 % 16 % 17 % 16 % Capital punishment [ edit ] This section needs additional citations for verification . ... "Because of population growth, the very small decrease in the number of hungry people has nevertheless resulted in a reduction in the proportion of undernourished people in the developing countries by 3 percentage points – from 20 percent in 1990–92 to 17 percent in 2001–03. (…) the prevalence of undernourishment declined by 9 percent (from 37 percent to 28 percent) between 1969–71 and 1979–81 and by a further 8 percentage points (to 20 percent) between 1979–81 and 1990–92.". ^ Food and Agriculture Organization Economic and Social Development Department.
    TDO2, ADM, ACSL1, GIP, HP, SI, RAMP2, UGT1A1, BCL2, LEP
  • Cryoglobulinemia Wikipedia
    One or more skin lesions including palpable purpura, ulcers, digital gangrene , and areas of necrosis occur in 69-89% of these mixed disease cases (see attached photograph); less common findings include painful peripheral neuropathy (often manifesting as mononeuritis multiplex in 19-44% of cases), kidney disease (primarily membranoproliferative glomerulonephritis (30%), joint pain (28%), and, less commonly, dry eye syndrome , Raynaud phenomenon (i.e., episodic painful reductions in blood flow to the fingers and toes). [9] [12] While the glomerulonephritis occurring in mixed disease appears to be due to inflammatory vasculitis, the glomerulonephritis occurring in type I disease appears due to the interruption of blood flow. [12] The hematological, infectious, and autoimmune diseases underlying type II cryoglobulinemic disease and the infectious and autoimmune diseases underlying type III cryoglobulinemic disease are also critical parts of the disease's clinical findings. ... European Journal of Internal Medicine . 42 : 24–28. doi : 10.1016/j.ejim.2017.04.001 .
    TSLP, NOTCH4, MYD88, HLA-DRB1, CXCL10, TNF, GPT, IFNA13, IFNL3, IFNA1, IFNG, TLR2, NLRP3, CCR5, BTG3, TNFSF13B, IVNS1ABP, CXCL13, NR1D2, IL1R2, VIPR1, VCAM1, CRYGD, SMN2, IGHG3, SMN1, CCL2, PTPN11, PAEP, BCL2, HLA-A, MYC, LAG3, KIR3DL1, ITGAM, IL1RN, ADK
    • Cryoglobulinemia Mayo_clinic
      Overview Cryoglobulins are abnormal proteins in the blood. If you have cryoglobulinemia (kry-o-glob-u-lih-NEE-me-uh), these proteins may clump together at temperatures below 98.6 F (37 C). These gelatinous protein clumps can impede your blood circulation, which can damage your skin, joints, nerves and organs — particularly your kidneys and liver. Cryoglobulinemia care at Mayo Clinic Symptoms Symptoms usually come and go, and may include: Skin lesions. Most people with cryoglobulinemia develop purplish skin lesions on their legs. In some people, leg ulcers also occur. Joint pain. Symptoms resembling rheumatoid arthritis are common in cryoglobulinemia.
    • Simple Cryoglobulinemia Gard
      Simple cryoglobulinemia occurs when the body makes an abnormal immune system protein called a cryoglobulin. At temperatures less than 98.6 degrees Fahrenheit (normal body temperature), cryoglobulins become solid or gel-like and can block blood vessels. This causes a variety of health problems. Many people with cryoglobulins will not experience any symptoms. If symptoms occur, they may include skin ulcers, purple skin spots ( purpura ), numbness in the fingers and toes ( Raynaud's phenomenon ), joint pain, and kidney problems. The underlying cause is unknown. Simple cryoglobulinemia is typically associated with immune system cancers, such as multiple myeloma or non-Hodgkin lymphoma.
  • Rohhad Wikipedia
    These conditions are now permanently differentiated from one other, as patients with CCHS have mutations in the PHOX2B gene, whereas ROHHAD patients do not. [28] Society [ edit ] The ROHHAD Association is an organization that aims to increase awareness for ROHHAD and promote research opportunities. ... Retrieved 2018-06-06 . ^ "Primary alveolar hypoventilation" . Scripps Health . 2008-08-28 . Retrieved 2018-06-06 . ^ "autonomic nervous system | Divisions & Functions" .
    ADCYAP1, BDNF, HCRT, HCRTR2, HTR1A, RAI1
    • Rohhad Gard
      ROHHAD is an acronym for rapid-onset obesity (RO) with hypothalamic dysregulation (H), hypoventilation (H), and autonomic dysregulation (AD). It is a rare, life-threatening syndrome that affects the autonomic nervous system (which controls involuntary actions like breathing and your heartbeat) and the endocrine system . As the name suggests, the key features include dramatic weight gain over a six- to 12-month period in the first 10 years of life, followed by hypothalamic dysfunction , dysregulation of the autonomic nervous system, and alveolar hypoventilation . Children with ROHHAD appear to have normal growth, development, and general health prior to onset of symptoms. The cause of ROHHAD is currently unknown. Treatment varies based on the signs and symptoms present in each person.
    • Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome Orphanet
      A rare syndromic endocrine disease characterized by childhood-onset hyperphagia and obesity, alveolar hypoventilation, dysautonomia, hypothalamic dysfunction and neurobehavioral disorders. Central hypothyroidism, endocrine anomalies, electrolyte imbalances and respiratory failure may also be associated. Epidemiology Fewer than 100 cases have been reported in the medical literature to date. Clinical description Disease onset is between 1.5 to 7 years of age with dramatic weight gain (approximately 9-13 kg over a 3-12 month period) associated with alveolar hypoventilation in a previously healthy child. This rapid-onset obesity is considered as the first sign of hypothalamic dysfunction.
  • Postpartum Blues Wikipedia
    This is in addition to existing recommendations for annual depression screening in all women. [25] American Academy of Pediatrics (AAP): In 2017, the AAP recommended universal screening of mothers for postpartum depression at the 1-, 2-, 4-, and 6-month well child visits. [26] [27] United States Preventative Services Task Force (USPSTF): In 2016, the USPSTF recommended depression screening in the general adult population, including pregnant and postpartum women. [28] Their recommendations did not include guidelines for frequency of screening. ... Clinical Obstetrics & Gynaecology . 28 (1): 3–12. doi : 10.1016/j.bpobgyn.2013.09.002 .
  • Lafora Disease Wikipedia
    Recent research is looking into how inhibition of glycogen synthesis, since increased glucose uptake causes increased glycogen, could potentially stop the formation of the Lafora Bodies in neurons in laforin-deficient mice models while also reducing the chances of seizures . [28] The adipocyte hormone Leptin is what this research targeted by blocking the leptin signaling to reduce glucose uptake and stop Lafora bodies from forming. [28] Other researchers are looking into the ways in which Lafora bodies are being regulated at the level of gene expression.
    NHLRC1, EPM2A
  • Freeman–sheldon Syndrome Wikipedia
    Krakowiak et al. (1998) mapped the distal arthrogryposis multiplex congenita (DA2B; MIM #601680) gene , a syndrome very similar in phenotypic expression to classic FSS, to 11p15.5-pter. [7] [8] Other mutations have been found as well. [9] [10] In FSS, inheritance may be either autosomal dominant , most often demonstrated. [11] [12] [13] or autosomal recessive (MIM 277720). [14] [15] [16] [17] Alves and Azevedo (1977) note most reported cases of DA2A have been identified as new allelic variation . [18] Toydemir et al. (2006) showed that mutations in embryonic myosin heavy chain 3 (MYH3; MIM *160270), at 17p-13.1-pter, caused classic FSS phenotype, in their screening of 28 (21 sporadic and 7 familial) probands with distal arthrogryposis type 2A. [19] [20] In 20 patients (12 and 8 probands, respectively), missense mutations (R672H; MIM *160270.0001 and R672C; MIM *160270.0002) caused substitution of arg672, an embryonic myosin residue retained post-embryonically. [19] [20] [20] Of the remaining 6 patients in whom they found mutations, 3 had missense private de novo (E498G; MIM *160270.0006 and Y583S) or familial mutations (V825D; MIM *160270.0004); 3 other patients with sporadic expression had de novo mutations (T178I; MIM *160270.0003), which was also found in DA2B; 2 patients had no recognized mutations. [19] [20] Diagnosis [ edit ] Freeman–Sheldon syndrome is a type of distal arthrogryposis , related to distal arthrogryposis type 1 (DA1). [21] In 1996, more strict criteria for the diagnosis of Freeman–Sheldon syndrome were drawn up, assigning Freeman–Sheldon syndrome as distal arthrogryposis type 2A (DA2A). [3] On the whole, DA1 is the least severe; DA2B is more severe with additional features that respond less favourably to therapy. ... These included two or more features of distal arthrogryposis: microstomia , whistling-face , nasolabial creases , and 'H-shaped' chin dimple. [2] Management [ edit ] Surgical and anesthetic considerations [ edit ] Patients must have early consultation with craniofacial and orthopaedic surgeons , when craniofacial, [23] [24] [25] clubfoot , [26] or hand correction [27] [28] [29] [30] is indicated to improve function or aesthetics.
  • Nocturia Wikipedia
    Dutasteride and tamsulosin are on the market as combined therapy and results have shown that they improve symptoms significantly versus monotherapy . [27] [28] Antimuscarinic agents such as oxybutynin , tolterodine , solifenacin are especially used in patients who suffer from nocturia due to an overactive bladder and urgency incontinence because they help bladder contractility. [29] Surgery [ edit ] If the cause of nocturia is related to benign prostatic hyperplasia or an overactive bladder , surgical actions may be sought out. ... "Nocturnal polyuria versus overactive bladder in nocturia". Urology . 60 (5 Suppl 1): 28–32, discussion 32. doi : 10.1016/S0090-4295(02)01789-2 .
    TWNK, DBH, SLC25A4, SLC12A3, RRM2B, POLG, POLG2, CLCNKB, CLOCK, AVP, KLK3, PDSS2, CENPJ, MIA3, PSAT1, ARIH1, AMBP, TLR4, NPEPPS, WIPF1, TNS1, TGFB1, PROS1, PLAG1, GJB2, GJA5, ARNT, PSS
  • Asbestos-Related Diseases Wikipedia
    Tubercle . 10 (8): 353–363. doi : 10.1016/S0041-3879(29)80024-4 . 1930 Correspondence, Foreign Letters (June 28, 1930). "Compensation Act to be Extended to Asbestosis". JAMA . 94 (26): 2078. doi : 10.1001/jama.1930.02710520044016 . 1930 Mills, R.G. (June 28, 1930). "Report of a Case". Minnesota Medicine : 495–499. 1930 Editorial (1930).
  • African Tick Bite Fever Wikipedia
    Archived from the original on 6 October 2017 . Retrieved 28 October 2017 . ^ a b c d e f g h i j k l m n o p q Jensenius, M; Fournier, PE; Kelly, P; Myrvang, B; Raoult, D (September 2003). ... Archived from the original on 29 October 2017 . Retrieved 28 October 2017 . ^ a b c d e "Chapter 174.
    • African Tick Typhus Orphanet
      A rare bacterial infectious disease caused by the tick-borne bacterium Rickettsia africae , characterized by acute onset of fever accompanied by myalgia, localized lymphadenitis, and a papulovesicular rash. In most cases at least one, sometimes multiple, inoculation eschars are observed. Clustering of cases is frequent.
  • Parry–romberg Syndrome Wikipedia
    "Neurological Manifestations in Parry-Romberg Syndrome: 2 Case Reports" . Medicine . 94 (28): e1147. doi : 10.1097/MD.0000000000001147 . ... Journal Français d'Ophtalmologie (in French). 28 (8): 866–70. doi : 10.1016/S0181-5512(05)81008-3 .
    CD38, OXTR, STX1A, EBNA1BP2
    • Hemifacial Atrophy, Progressive Omim
      Clinical Features This syndrome, originally described by Parry (1825) and Henoch and Romberg (1846), consists of slowly progressive atrophy of the soft tissues of essentially half the face, accompanied usually by contralateral Jacksonian epilepsy, trigeminal neuralgia, and changes in the eyes and hair (Walsh, 1939; Wartenberg, 1945). Lewkonia and Lowry (1983) reported the case of a 16-year-old boy who developed facial changes at age 7 and had localized scleroderma on one leg and the trunk. The presence of antinuclear antibodies in his serum suggested that the Parry-Romberg syndrome may be a form of localized scleroderma. A review of the literature did not support autosomal dominant inheritance. Lakhani and David (1984) also reported the concurrence of HFA and localized scleroderma.
    • Progressive Hemifacial Atrophy Orphanet
      Progressive hemifacial atrophy (PHA) is a rare acquired disorder, characterized by unilateral slowly progressive atrophy of the skin and soft tissues of half of the face leading to a sunken appearance. Muscles, cartilage and the underlying bony structures may also be involved. Epidemiology The prevalence is estimated to be at least 1/700,000 individuals, women being slightly more affected than men. Clinical description PHA usually presents during the first 20 years of life, characterized by slowly progressive unilateral atrophy of various tissues (skin, connective tissue, fat, muscle and rarely, underlying bony structures) in the territory of the 5th cranial nerve. PHA may start with alopecia, hair hypopigmentation, and atrophy may be preceded by cutaneous induration and hypo- or hyperpigmentation.
    • Progressive Hemifacial Atrophy Gard
      Progressive hemifacial atrophy (PHA), also known as Parry-Romberg syndrome, is characterized by slowly progressive deterioration of the skin and soft tissues on one side of the face. It sometimes occurs on both sides of the face and occasionally involves the arm, trunk, and/or leg. The condition may worsen for 2 to 20 years and then stabilize. It usually begins around age 10 but can begin as early as infancy or as late as mid-adulthood. The severity varies greatly. While the cause is not well understood, it may differ among affected people. PHA is often associated with a type of linear scleroderma called "en coupe de sabre" (ECDS), and many researchers believe that PHA is also a form of linear scleroderma.
  • Sacrococcygeal Teratoma Wikipedia
    "Terminal myelocystocele and sacrococcygeal teratoma: a comparison of fetal ultrasound presentation and perinatal risk" . AJNR Am J Neuroradiol . 28 (6): 1058–60. doi : 10.3174/ajnr.A0502 . ... The American Journal of Forensic Medicine and Pathology . 28 (2): 121–7. doi : 10.1097/01.paf.0000257373.91126.0d .
    MNX1, APC2, SETBP1, SETD2, NSD1, AFP, NIPBL
    • Sacrococcygeal Teratoma Gard
      A sacrococcygeal teratoma is a tumor that grows at the base of the spine in a developing fetus. It occurs in one in 40,000 newborns and girls are four times more likely to be affected than boys. Though it is usually benign , there is a possibility that the teratoma could become malignant . As such, the recommended treatment of a teratoma is complete removal of the tumor by surgery, performed soon after the birth. If not all of the tumor is removed during the initial surgery, the teratoma may grow back ( recur ) and additional surgeries may be needed.
  • Earworm Wikipedia
    Women and men experience the phenomenon equally often, but earworms tend to last longer for women and irritate them more. [27] Kellaris produced statistics suggesting that songs with lyrics may account for 73.7% of earworms, whereas instrumental music may cause only 7.7%. [28] In 2010, published data in the British Journal of Psychology directly addressed the subject, and its results support earlier claims that earworms are usually 15 to 30 seconds in length and are more common in those with an interest in music. [21] Earworms can occur with 'positive' or 'negative' music. [29] Positive music in this case would be music that sounds happy and/or calm. ... "The Persistence of Musical Memories: A Descriptive Study of Earworms" . Music Perception . 28 (4): 425–432. doi : 10.1525/mp.2011.28.4.425 .
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