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Xp11.2 Duplication
Wikipedia
A change of guanine nucleotide exchange factor activity may influence the regulation of actin cytoskeleton organization and neuronal development in the brain by reduced activation of the ARF6 substrate or a defect in the GTP-binding activity. [26] Two intragenic duplications predicted to cause termination mutations on the X-chromosome involving IQSEC2 were identified in two de novo cases, and one nonsense mutation was described in three additional male patients presenting severe intellectual disability and additional clinical features including neonatal hypotonia , delayed motor skills, seizures, strabismus , autistic-like behavior, stereotypic midline hand movements, microcephaly , little-to-no walking, little-to-no language skills, significant behavioral issues, and mildly abnormal facial features. [27] A novel de novo mutation in the IQSEC2 gene identified through diagnostic exome sequencing showed significant developmental delay, seizures, hypotonia, vision impairments, plagiocephaly , autistic-like features, absent language skills, and abnormal MRI findings. [28] IQSEC2 gene plays a larger role in the cause of X-linked cognitive impairment than previously thought. ... No mutations in SHROOM4 were identified in more than 1000 control X chromosomes. [30] [31] See also [ edit ] X-linked Intellectual Disability References [ edit ] ^ a b c d "Unique The Rare Chromosome Disorder Support Group" . www.rarechromo.org . Retrieved 2018-02-28 . ^ "Microduplication Xp11.22-p11.23 syndrome | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" . rarediseases.info.nih.gov . Retrieved 2018-02-28 . ^ a b c d e f g h Giorda R, Bonaglia MC, Beri S, Fichera M, Novara F, Magini P, et al. ... Human Phenotype Ontology . Retrieved 2018-02-28 . ^ Nizon M, Andrieux J, Rooryck C, de Blois MC, Bourel-Ponchel E, Bourgois B, et al.
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Anencephaly
Wikipedia
These include waiting for death to occur before procuring organs, expanding the definition of death, creating a special legal category for anencephalic infants, and defining them as non-persons. [28] In the United Kingdom , a child born with anencephaly was reported as the country's youngest organ donor. ... Archived from the original on 2011-08-05 . Retrieved 28 August 2011 . ^ Badano, Jose L.; Mitsuma, Norimasa; Beales, Phil L.; Katsanis, Nicholas (2006). ... Archived from the original on 2014-03-28 . Retrieved 2017-10-31 . ^ a b Neural Tube Defects : From Origin to Treatment: From Origin to Treatment . ... PMID 1735049 . ^ [1] Archived 2018-05-28 at the Wayback Machine . BBC News.TRIM36, MTHFR, VANGL2, THAS, LMO4, EFNA5, CECR2, FUZ, KIAA0586, TMEM216, WDPCP, DACT1, B4GAT1, TBXT, MKS1, CCL2, CEP55, RPGRIP1L, RPGRIP1, B9D1, CC2D2A, TMEM231, HOXD13, CSPP1, TCTN2, CEP290, B9D2, VANGL1, TMEM107, TMEM67, KIF7, AFP, WIPI1, MIR212, ABO, CELSR1, SCRIB, HOXA10, BMP4, CASP3, CASP8, COMT, DVL3, FAP, FOLH1, GOLGA4, HLA-B, IRF6, TUBGCP2, LMNB1, MSX2, MTHFD1, MTRR, PCMT1, PRKACB, CXCL6, CUL4B, FOXN1, MIR451A
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Legg–calvé–perthes Disease
Wikipedia
It is most commonly seen in persons aged three to 12 years, with a median of six years of age. [ citation needed ] The UK incidence rates show an intriguing pattern with low incidence rates in London, and a progressive increase in disease in more northerly areas (maximal in Scotland). [15] Some evidence suggests, at least in developed countries, more socioeconomically deprived communities have a greater risk of disease (a similar trend to diseases such as adult heart disease), though the reason for this remains unknown. [15] [16] [17] [18] [19] [20] One possible explanation that has been considered is tobacco smoke exposure, though this is significantly confounded by the strong socioeconomic gradient common to both smoking and Perthes' disease. [3] [21] History [ edit ] 1897: The disease was first described by Karel Maydl (1853–1903). [22] 1909: Henning Waldenström (1877–1972) described the disease, attributing it to tuberculosis. [23] 1910: The disease was recognized as being unrelated to tuberculosis by three physicians working independently. [24] Legg–Calvé–Perthes is named after these three doctors: [24] Arthur Legg (1874–1939), [25] Jacques Calvé (1875–1954), [26] and Georg Perthes (1869–1927). [27] Research directions [ edit ] In the UK in 2016, a nationwide study began collecting details of every case of Perthes' disease as part of the British Orthopaedic Surgery Surveillance Study. [28] This aims to get core information about the disease, prior to starting extensive clinical trials about the best forms of treatment. ... Chief Editor: Felix S Chew. Updated: May 28, 2008 ^ Yochum, Rowe (1987). Essentials of Skeletal Radiology . p. 995. ... "Perthes' disease: deprivation and decline". Arch Dis Child . 96 (12): 1124–28. doi : 10.1136/archdischild-2011-300413 . ... ISBN 9781852337865 . ^ "The BOSS Study: British Orthopaedic Surgery Surveillance Study" . www.boss.surgery . Retrieved 28 February 2016 . ^ Tutt JFD (1935).
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Avoidant Personality Disorder
Wikipedia
He identified four adult subtypes of avoidant personality disorder. [27] [28] Subtype and description Personality traits Phobic avoidant (including dependent features) General apprehensiveness displaced with avoidable tangible precipitant; qualms and disquietude symbolized by a repugnant and specific dreadful object or circumstances. ... Self-deserting avoidant (including depressive features) Blocks or fragments self-awareness ; discards painful images and memories; casts away untenable thoughts and impulses; ultimately jettisons self (suicidal). [28] Others [ edit ] In 1993, Lynn E. ... Archived from the original on 2014-10-28 . Retrieved 2013-07-22 . ^ Will, Retzlaff, ed. (1995). p. 97 ^ Hoeksema, Nolen (2014). ... Archived from the original on 2007-09-28 . Retrieved 2006-02-26 . ^ Eikenaes, Ingeborg; Pedersen, Geir; Wilberg, Theresa (September 2016).
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Food Addiction
Wikipedia
A sugar tax is set to be introduced in Ireland to minimise the consumption of harmful foods and drinks . [28] Summary of addiction-related plasticity [ edit ] Form of neuroplasticity or behavioral plasticity Type of reinforcer Sources Opiates Psychostimulants High fat or sugar food Sexual intercourse Physical exercise (aerobic) Environmental enrichment ΔFosB expression in nucleus accumbens D1-type MSNs ↑ ↑ ↑ ↑ ↑ ↑ [1] Behavioral plasticity Escalation of intake Yes Yes Yes [1] Psychostimulant cross-sensitization Yes Not applicable Yes Yes Attenuated Attenuated [1] Psychostimulant self-administration ↑ ↑ ↓ ↓ ↓ [1] Psychostimulant conditioned place preference ↑ ↑ ↓ ↑ ↓ ↑ [1] Reinstatement of drug-seeking behavior ↑ ↑ ↓ ↓ [1] Neurochemical plasticity CREB phosphorylation in the nucleus accumbens ↓ ↓ ↓ ↓ ↓ [1] Sensitized dopamine response in the nucleus accumbens No Yes No Yes [1] Altered striatal dopamine signaling ↓ DRD2 , ↑ DRD3 ↑ DRD1 , ↓ DRD2 , ↑ DRD3 ↑ DRD1 , ↓ DRD2 , ↑ DRD3 ↑ DRD2 ↑ DRD2 [1] Altered striatal opioid signaling No change or ↑ μ-opioid receptors ↑ μ-opioid receptors ↑ κ-opioid receptors ↑ μ-opioid receptors ↑ μ-opioid receptors No change No change [1] Changes in striatal opioid peptides ↑ dynorphin No change: enkephalin ↑ dynorphin ↓ enkephalin ↑ dynorphin ↑ dynorphin [1] Mesocorticolimbic synaptic plasticity Number of dendrites in the nucleus accumbens ↓ ↑ ↑ [1] Dendritic spine density in the nucleus accumbens ↓ ↑ ↑ [1] See also [ edit ] Binge eating disorder Binge eating Bulimia nervosa Eating disorder Eating disorder not otherwise specified Food Addicts in Recovery Anonymous Food Addicts Anonymous Gluttony Hyperalimentation – overnutrition Overeaters Anonymous Overeating Polyphagia – excessive hunger SMART Recovery Sugar industry References [ edit ] ^ a b c d e f g h i j k l m n o p q r Olsen CM (December 2011). ... ISBN 9781308211503 . ^ "Food Addiction Signs and Treatments" . WebMD . Retrieved 2017-02-28 . ^ a b c "What Are The Effects of Food Addiction" . Authority Nutrition . 2013-02-18 . Retrieved 2017-02-28 . ^ a b c "About Food Addiction: Signs, Symptoms, Causes & Articles For Treatment Help" . www.eatingdisorderhope.com . Retrieved 2017-02-28 . ^ Liu Y, von Deneen KM, Kobeissy FH, Gold MS (June 2010).
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Hemophagocytic Lymphohistiocytosis
Wikipedia
The case fatality rate is 14.6% among dengue hemophagocytic lymphohistiocytosis patients. [28] See also [ edit ] Emperipolesis X-linked lymphoproliferative disease#XLP2 References [ edit ] ^ Fisman, David N. (2000). ... Reviews in medical virology. 2018 Nov;28(6):e2005. https://onlinelibrary.wiley.com/doi/abs/10.1002/rmv.2005 https://doi.org/10.1002/rmv.2005 ^ a b Wysocki CA (December 2017). ... PMID 26022711 . ^ Mehta, Puja; McAuley, Daniel F.; Brown, Michael; Sanchez, Emilie; Tattersall, Rachel S.; Manson, Jessica J. (2020-03-28). "COVID-19: consider cytokine storm syndromes and immunosuppression" . ... "Dengue hemophagocytic syndrome: A systematic review and meta-analysis on epidemiology, clinical signs, outcomes, and risk factors". Reviews in Medical Virology . 28 (6): e2005. doi : 10.1002/rmv.2005 .XIAP, RC3H1, HAVCR2, RAB27A, ELP1, PRF1, IL2, IFNG, SH2D1A, UNC13D, STX11, STXBP2, LYST, FHL2, TNF, AP3B1, APCS, IL2RA, IL10, ISG20, ITK, IL18, NLRC4, IL6, ALB, PTPRC, FHL3, NCAM1, CXCL10, CXCL9, PDLIM7, TRBV20OR9-2, LAMP1, TFF1, CD163, CRP, SMUG1, GNLY, GZMB, CCL2, QRSL1, RAPH1, TCN2, TCF3, ASRGL1, MAGT1, THBD, SPG7, IL33, SRSF6, SRSF1, CCL4, SIRPA, TLR9, NAAA, CCDC22, NR1I3, B3GAT1, TNFRSF1A, ACSBG1, EEA1, WG, ATF5, APOL1, HAX1, TRIM13, TMEM201, TNFSF12, PTF1A, VPS13B, ACTB, PROX1, CSF2, GPT, GATA4, GATA2, FUT1, FGL1, DNASE1L3, CXADR, CTSB, CTLA4, CD52, MAP2K7, CDC42, CD47, CD40LG, RUNX1, CASR, BRAF, BCL3, ARR3, ALK, HADHA, HHEX, HIF1A, HMOX1, PRKAR1A, PFN1, MIP, MAS1, ADA, KIR3DS1, KIR3DL2, KIR2DS5, KIR2DS1, IRF5, IL16, CXCL8, IL4, IL1B, IL1A, IFNGR1, IFNA13, IFNA1, HPS1, CXADRP1
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Transverse Myelitis
Wikipedia
Bastian's initial description included few conclusive diagnostic criteria; by the 1980s, basic diagnostic criteria were established, including acutely developing paraparesis combined with bilateral spinal cord dysfunction over a period of <4 weeks and a well-defined upper sensory level, no evidence of spinal cord compression, and a stable, non-progressive course. [26] [27] Later definitions, were written in order to exclude patients with underlying systemic or neurological illnesses and to include only those who progressed to maximum deficit in fewer than 4 weeks. [28] Word origin [ edit ] The word is from Latin: myelitis transversa and the disorder's name is derived from Greek myelós referring to the " spinal cord ", and the suffix -itis , which denotes inflammation . [29] See also [ edit ] Acute disseminated encephalomyelitis References [ edit ] ^ a b c d e f g h i West TW (October 2013). ... Current Neuropharmacology . 9 (3): 417–28. doi : 10.2174/157015911796557948 . ... ISBN 978-1-898683-66-7 . ^ Alexander MA, Matthews DJ, Murphy KP (28 May 2015). Pediatric Rehabilitation, Fifth Edition: Principles and Practice . ... "An approach to the diagnosis of acute transverse myelitis" . Seminars in Neurology . 28 (1): 105–20. doi : 10.1055/s-2007-1019132 .
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Urologic Disease
Wikipedia
RCC is the most common type of kidney cancer in adults, responsible for approximately 90–95% of cases. [26] Prostate cancer is the development of cancer in the prostate , a gland in the male reproductive system . [27] Most prostate cancers are slow growing; however, some grow relatively quickly. [28] [29] The cancer cells may spread from the prostate to other areas of the body, particularly the bones and lymph nodes . [30] It may initially cause no symptoms. [28] In later stages, it can lead to difficulty urinating , blood in the urine or pain in the pelvis , back, or when urinating. [31] A disease known as benign prostatic hyperplasia may produce similar symptoms. [28] Other late symptoms may include feeling tired due to low levels of red blood cells . [28] Urinary tract obstruction is a urologic disease consisting of a decrease in the free passage of urine through one or both ureters and/or the urethra .
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Lennox–gastaut Syndrome
Wikipedia
Since 2010, this assumption has been challenged. [28] Two studies on LGS patients series who underwent curative surgery in Korea [29] and China, [30] showed very good results, up to seizure freedom for 80% of these patients below 5 years old, and 40% above 5 years old. ... Out of 20 children, only 1 experienced a serious side effect ( dyskinesia ). [35] Zonisamide showed promise in an overview of controlled and uncontrolled trials conducted in Japan. [36] However, in a physician survey conducted December 2004, only 28% of Lennox–Gastaut and West syndrome patients improved on zonisamide. [37] One yet to be published study from 2017 supported the use of cannabidiol . [38] A study published in the New England Journal of Medicine has shown a significant reduction of seizures in patients taking 10 and 20 mg/kg a day compared to placebo. [ citation needed ] References [ edit ] ^ Markand, Omkar N. (2003-12-01). ... Genet Test Mol Biomarkers ^ Hancock, EC; Cross, JH (28 February 2013). "Treatment of Lennox–Gastaut syndrome" . ... "Surgical options for patients with Lennox–Gastaut syndrome" . Epilepsia . 55 : 21–28. doi : 10.1111/epi.12742 . PMID 25284034 . ^ Lee, Yun Jin (2010).
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Candidiasis, Familial, 2
Omim
One patient who died of meningitis was a 28-year-old woman who had suffered from recurrent episodes of mild oral thrush since age 16 years. ... Four patients with clinically active deep dermatophytosis died at the ages of 28, 29, 37, and 39 years. None of the 17 patients had any detectable T-cell immunodeficiency known to confer a predisposition to severe dermatophyte infection.
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Neutropenia, Severe Congenital, 3, Autosomal Recessive
Omim
She had impaired motor function without evidence of spasticity or ataxia, mental retardation, combined conductive and inner ear hearing loss, and severe epilepsy. Examination at age 28 years suggested a peripheral neuropathy. ... In 3 HAX1-deficient individuals, they identified somatic mutations in CSF3R. In 5 (28%) of 18 Japanese patients with severe congenital neutropenia, Ishikawa et al. (2008) identified homozygous or compound heterozygous mutations in the HAX1 gene (605998.0005; 605998.0006).
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Novelty Seeking Personality Trait
Omim
Genetic modeling showed that at age 12, heritability for risk-taking was modest but significant for both sexes (28% for males and 17% for females). However, at age 14, heritability increased to 55% in males and became nonsignificant in females. ... Homozygous carriers of the short allele of the 5-HTTLPR SLC6A4 promoter polymorphism (182138.0001) took 28% less risk compared to those carrying the long allele.
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Robin Sequence With Cleft Mandible And Limb Anomalies
Omim
Favaro et al. (2011) reported a 20-year follow-up of 28 patients from 25 apparently unrelated Brazilian families, including 12 previously reported patients (Richieri-Costa and Pereira, 1992; Richieri-Costa and Pereira, 1993; Tabith and Bento-Goncalves, 1996; Guion-Almeida and Richieri-Costa, 1998; Tabith and Bento-Goncalves, 2003). ... Inheritance Normal parents, parental consanguinity in 3 instances, recurrence in sibs, and normal karyotype in the patients reported by Richieri-Costa and Pereira (1992) suggested autosomal recessive inheritance. In a review of 28 patients from 25 apparently unrelated Brazilian families, Favaro et al. (2011) observed high rates of recurrence in sibs and cousins (36%) and parental consanguinity (44%), supporting the hypothesis of autosomal recessive inheritance.
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Abby And Brittany Hensel
Wikipedia
ABC TV also did a documentary called "Joined For Life". [14] [15] A UK television special in 2005 as part of the series Extraordinary People . [16] In 2006, Advanced Medical made another documentary, Joined for Life: Abby & Brittany turn 16 , [17] that discusses their adolescence, school, social life, and activities such as getting their driver's licenses . [7] The twins starred in the reality TV show Abby & Brittany that started in August 2012. [2] Abby and Brittany: Joined for Life was shown by the BBC in the UK in May 2013, and covers the period from their finishing college to starting a part-time teaching job. [18] Filmography [ edit ] Documentaries and other television appearances include: First aired Title Distributor Produced by April 8, 1996 The Oprah Winfrey Show King World Productions Harpo Productions March 27, 2003 Joined for Life Discovery Channel Advanced Medical Productions, American Broadcasting Company December 17, 2006 Joined for Life: Abby and Brittany Turn 16 [19] TLC Advanced Medical Productions February 19, 2007 Extraordinary People: The Twins Who Share a Body [20] Five (UK) One North August 28, 2012 Abby & Brittany TLC References [ edit ] ^ "Sunnyside Staff Directory / Sunnyside Staff Directory" . ... Retrieved 2011-12-23 . ^ a b Abby & Brittany , Episode 4 ^ a b Hoffman, Kevin (2008-02-28). "Minnesota's Abby and Brittany Hensel, conjoined twins, make Newsweek" . citypages.com .
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Abortion In South Africa
Wikipedia
Statistics [ edit ] There has since the legalisation of abortion on demand been a decrease in deaths from backstreet abortions, but the number of deaths following abortions are still quite high according to statistics gathered in Gauteng province—5% of maternal deaths following childbirth are abortion related, and 57% of these are related to illegal abortions. [7] A 2003 study in Soweto showed the following: the rate of abortions for women older than 20 years decreased from 15.2% in 1999 to 13.2% in 2001, the rate for women aged 16–20 decreased from 21% to 14.9%, and the rate for women aged 13–16 decreased from 28% to 23%. In 2001, 27% of abortions were second-trimester. [7] See also [ edit ] Abortion by country Abortion debate Abortion law Law of persons in South Africa Religion and abortion Choice on Termination of Pregnancy Act, 1996 History of Abortion Law Debate Birth control in Africa Literature [ edit ] Susanne M. ... South African History Online. Archived from the original on 28 October 2018 . Retrieved 27 August 2011 . ^ "Abortion.pdf" (PDF) .
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Ischemic Hepatitis
Wikipedia
. ^ "Cardiac Cirrhosis and Congestive Hepatopathy: Background, Pathophysiology, Epidemiology" . 2018-06-28. Cite journal requires |journal= ( help ) ^ Wilson, William C.; Grande, Christopher M.; Hoyt, David B. (2007-02-05). ... Irwin, Richard S.; Rippe, James M. (2012-03-28). Manual of Intensive Care Medicine .
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Traction Alopecia
Wikipedia
Seminars in Cutaneous Medicine and Surgery . 28 (2): 109–114. doi : 10.1016/j.sder.2009.04.004 . ... "Traction Alopecia in Two Adolescent Sikh Brothers-An Underrecognized Problem Unmasked by Migration". Pediatric Dermatology . 28 (3): 336–338. doi : 10.1111/j.1525-1470.2011.01241.x .
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Aphantasia
Wikipedia
His aphantasia may have influenced his long interest in photography. [22] [23] Blake Ross , co-creator of the web browser Mozilla Firefox . [24] Richard Herring , British comedian and podcaster. [25] Yoon Ha Lee , science fiction author. [26] Michelle Sagara , fantasy author. [27] James Harkin , co-host of podcast No Such Thing as a Fish , researcher for television show QI . [28] See also [ edit ] Creative visualization Engineering and the Mind's Eye Number form Prefrontal Synthesis References [ edit ] ^ Larner, A. ... Archived from the original on 2017-08-28. ^ Gallagher, James (9 April 2019).
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Crush Syndrome
Wikipedia
Archived from the original (PDF) on 28 October 2011. Cite journal requires |journal= ( help ) ^ Walters, Thomas (28 December 2016).
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Female Genital Mutilation In Nigeria
Wikipedia
"Nigeria's female genital mutilation ban is important precedent, say campaigners" . the Guardian . Retrieved 2016-05-28 . ^ "Female Genital Mutilation/Cutting in the United States: Updated Estimates of Women and Girls at Risk, 2012" (PDF) . ... The Huffington Post . Retrieved 2016-05-28 . ^ Agusiobo, Benedicta (2018-10-04).