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  • Coup Contrecoup Injury Wikipedia
    In 1768, the group met again on the topic, and Louis Sebastian Saucerotte won the prize for his paper describing contrecoup injuries in humans and experiments on animals and recommending treatments such as bloodletting and application of herbs to patients' heads. [17] In popular culture [ edit ] In the Perry Mason TV series , contrecoup lacerations were used as evidence in at least two episodes, including "The Case of the Jaded Joker" (1959) [18] and "The Case of the Bluffing Blast" (1963). [19] [20] In " Hawkeye ", an episode of M*A*S*H , Captain Hawkeye Pierce diagnoses himself as having a contrecoup injury. ... PMID 12391630 . ^ a b Johnson, V. E; Stewart, W; Smith, D. H (2012). "Axonal Pathology in Traumatic Brain Injury" . ... S2CID 46514293 . ^ a b c d e f McKee, A. C; Daneshvar, D. H (2015). The neuropathology of traumatic brain injury . ... Retrieved 2008-01-25 . ^ a b Li, F; Li, H; Xiao, Z; Lu, R; Zhang, Z; Zhu, H; Ren, L (2017). ... PMID 26444405 . ^ Oyetunji, T. A; Jackson, H. T; Obirieze, A. C; Moore, D; Branche, M.
  • Muckle–wells Syndrome Wikipedia
    Brian Goldman , presents a real-life study of the self-diagnosis by and successful treatment of a father and daughter with Muckle–Wells syndrome [ citation needed ] In the episode of popular TV series House , the main patient of the Season 7 episode Recession Proof is ultimately diagnosed with this condition. [ citation needed ] In an episode of TV series Cake Boss , Buddy Valastro works with a girl with this condition through Make-A-Wish Foundation . [ citation needed ] See also [ edit ] Familial cold urticaria , a similar disease List of cutaneous conditions NOMID , a similar disease Urticarial syndromes CINCA Syndrome References [ edit ] ^ ORPHANET - About rare diseases - About orphan drugs ^ Mariathasan S, Weiss DS, Newton K, McBride J, O'Rourke K, Roose-Girma M, Lee WP, Weinrauch Y, et al.
    NLRP3, ZEB2, PLCG2, NLRC4, MME, IL1B, IL1A, CASP1, MEFV, TNF, SLC9A3R2, SCAF11, GEMIN2, TNFRSF1A, ATN1, MAPK1, EBI3, NLRP12, NOD2, CRK, ADA2, POLDIP2, RNF19A, AHSA1, CRP, RET, GRAP2, MAPK14, IL18R1, IL1RN, AIMP2, IL18, NT5E, BTK
    • Muckle-Wells Syndrome Orphanet
      Muckle-Wells syndrome (MWS) is an intermediate form of cryopyrin-associated periodic syndrome (CAPS; see this term) and is characterized by recurrent fever (with malaise and chills), recurrent urticaria-like skin rash, sensorineural deafness, general signs of inflammation (eye redness, headaches, arthralgia/myalgia) and potentially life-threatening secondary amyloidosis (AA type). Epidemiology The prevalence of MWS is unknown. However a French survey through genetic laboratories has reported 135 cases and estimated CAPS prevalence at 1/360,000. Clinical description MWS onset is variable but patients usually present within the first few years of life with recurrent peak of fever (max of 39-40°C, starting generally in the evening (circadian pattern) and lasting a few hours, with a variable recurrence during a week. Intense general malaise and chills occur at the same time and lead to severe disability. Non-pruriginous urticarial rash (diffuse, erythematous, edematous plaques on a background of generalized, faintly erythematous patches) is a key feature of CAPS and is generally present with marked intensification during acute episodes.
    • Muckle-Wells Syndrome MedlinePlus
      Muckle-Wells syndrome is a disorder characterized by periodic episodes of skin rash, fever, and joint pain. Progressive hearing loss and kidney damage also occur in this disorder. People with Muckle-Wells syndrome have recurrent "flare-ups" that begin during infancy or early childhood. These episodes may appear to arise spontaneously or be triggered by cold, heat, fatigue, or other stresses. Affected individuals typically develop a non-itchy rash, mild to moderate fever, painful and swollen joints, and in some cases redness in the whites of the eyes (conjunctivitis).
    • Muckle-Wells Syndrome GARD
      Muckle-Wells syndrome is an autoinflammatory disease , and the intermediate form of cryopyrin-associated periodic syndrome (CAPS). Signs and symptoms may include recurrent episodes of fever, skin rash, joint pain, abdominal pain, and pinkeye ; progressive sensorineural deafness ; and amyloidosis . It is caused by mutations in the NLRP3 gene and is inherited in an autosomal dominant manner. Treatment includes medications such as canakinumab and rilonacept.
    • Muckle-Wells Syndrome OMIM
      A number sign (#) is used with this entry because of evidence that Muckle-Wells syndrome is caused by heterozygous mutation in the gene encoding cryopyrin (NLRP3; 606416) on chromosome 1q44. Description Muckle-Wells syndrome (MWS) is characterized by episodic skin rash, arthralgias, and fever associated with late-onset sensorineural deafness and renal amyloidosis (Dode et al., 2002). See also familial cold-induced autoinflammatory syndrome-1 (FCAS1, CAPS1; 120100), an allelic disorder with overlapping clinical features. Clinical Features Muckle and Wells (1962) described a family in which urticaria, progressive perceptive deafness, and amyloidosis were combined in a dominantly inherited syndrome. Five generations were affected. Autopsy in 2 patients showed absent organ of Corti, atrophy of the cochlear nerve, and amyloid infiltration of the kidneys.
  • Pearl High School Shooting Wikipedia
    Retrieved on April 15, 2015. ^ Perline, Irvin H. and Jona Goldschmidt. The Psychology and Law of Workplace Violence: A Handbook for Mental Health Professionals and Employers . ... External links [ edit ] Mississippi portal Biography portal 1990s portal "Mississippi v. Luke Woodham" . Court TV Online. "Woodham Updates (Final conviction)" . Court TV Online. "Luke Woodham" . Mississippi Department of Corrections.
  • Childhood Obesity Mayo Clinic
    Too much time spent in sedentary activities, such as watching television or playing video games, also contributes to the problem. TV shows also often feature ads for unhealthy foods. ... Make it an event — a time to share news and tell stories. Discourage eating in front of a TV, computer or video game screen, which can lead to fast eating and lowered awareness of the amount eaten. ... To increase your child's activity level: Limit TV time. Recreational screen time — in front of a TV, computer, tablet or smart phone — should be limited to no more than two hours a day for children older than 2. ... Does your child, or family, eat while watching TV, texting or using a computer? What you can do in the meantime If you have days or weeks before your child's scheduled appointment, keep a record of what your child eats and how active he or she is.
    FTO, APOA1, CETP, APOA5, ADIPOQ, LEP, MC4R, MC3R, POMC, PPARG, LEPR, INS, FABP4, DRD2, ENPP1, ALMS1, PPARA, NMU, GPT, BDNF, APOE, ANGPTL4, ADRB3, GCG, SIRT1, FAAH, OLFM4, GNB3, IL17A, IL10, IGF1, HP, MMP9, GRN, BCL2, RBP4, TMEM18, CNR2, PON1, UCP2, UCP3, CAT, AMD1, PNPLA3, VEGFA, TST, HCP5, UCP1, SOD2, STAT3, EBP, TGFB1, SLC6A8, SLC6A4, TNF, MKKS, CTPP, RAMP2, NAMPT, HDAC4, GDF15, LRAT, ARHGEF2, SOCS3, WASF1, PER3, PDE8B, NR0B2, ACACB, RRAS2, GNPDA2, MBOAT7, STEAP4, TMEM134, LIMD2, ARID5B, MCHR2, LINC00839, NMS, SKA1, NEDD4L, GPX6, ENHO, MIR17, MIR216A, MIR27A, MIR412, RAMP2-AS1, MIR1203, KCTD15, AKTIP, HIF3A, TNMD, SH2B1, FGF21, MYCBP, FETUB, ACAD8, SFRP5, IL22, SOST, TNNI3K, ZNF771, KLF13, NLK, GHRL, TM6SF2, LRP1B, MAGEL2, RETN, SCG5, PLIN1, SCD, FDXR, CNR1, CORD1, CRP, DNMT1, DRD4, ELAVL2, FAT1, GAD2, CD69, GC, GCKR, GH1, GHR, GHSR, GIPR, GPX1, CNP, CD5L, GPX5, AQP7, ADCY3, ALB, AKR1B1, AMY1A, AMY1B, AMY1C, ANGPT1, ARSD, CALR, ATP5F1E, BBS2, BBS4, BCKDHB, BNIP3, DST, CALCR, GPX4, GYS2, SAA1, PMAIP1, OXTR, SERPINE1, PCK1, PCSK1, PEX1, PGF, ADA, MAP2K5, NUCB2, PYY, PTH, PTPRN2, PTPRS, SNORA73A, RORC, SORT1, TNFRSF11B, NPY2R, HFE, LMNA, HSD11B1, IGF2, IMPDH2, IRS1, ITIH4, KCNC2, LGALS1, LMX1B, NOS3, LPL, MEST, MMP2, MSRA, ATP6, CYTB, MTNR1B, MIR642B
    • Childhood Obesity Wikipedia
      They discovered children were 21.5% more likely to be overweight when watching 4+ hours of TV per day, 4.5% more likely to be overweight when using a computer one or more hours per day, and unaffected by potential weight gain from playing video games . [64] A randomized trial showed that reducing TV viewing and computer use can decrease age-adjusted BMI; reduced calorie intake was thought to be the greatest contributor to the BMI decrease. [65] Technological activities are not the only household influences of childhood obesity. ... They measured weight, waist girth, stretch stature, skinfolds, physical activity, TV viewing, and SES; researchers discovered clear SES inclines to upper class children compared to the lower class children. [66] Childhood inactivity is linked to obesity in the United States with more children being overweight at younger ages. ... Retrieved 15 December 2013 . ^ Javed, A.; Jumean, M.; Murad, M. H.; Okorodudu, D.; Kumar, S.; Somers, V. ... PMID 12224658 . ^ Speiser PW, Rudolf MC, Anhalt H, et al. (2005). "Childhood obesity" . ... PMID 18043605 . ^ a b Horton TJ, Drougas H, Brachey A, Reed GW, Peters JC, Hill JO (1995).
  • Sirenomelia Wikipedia
    Shiloh was the only one of the three survivors of sirenomelia without surgery for separation of the conjoined legs. [17] She died of pneumonia on October 23, 2009, at Maine Medical Center in Portland, Maine , at the age of 10; [18] having appeared on the Oprah Winfrey Show on September 22, 2009. [19] Shiloh gained a following of admirers by documenting her condition on TV , Facebook , and the Internet . Milagros Cerrón [ edit ] Milagros Cerrón Arauco (April 27, 2004 – October 24, 2019) was born in Huancayo , Peru . ... Milagros' parents are from a poor village in Peru's Andes Mountains ; the Solidarity Hospital had given a job to her father Ricardo Cerrón so that the family could remain in Lima , while the City of Lima pledged to pay for many of the operations. [14] She died on October 24, 2019 at the age of 15. [20] [21] References [ edit ] ^ a b c d e f g h i j k l m n o p B., Holmes, Lewis (2011). ... "Prenatal Diagnosis of Sirenomelia with Bilateral Hydrocephalus: Report of a Previously Undocumented form of VACTERL-H Association". American Journal of Perinatology . 15 (3): 193–7. doi : 10.1055/s-2007-993925 . ... BBC News. 28 September 2006. ^ a b " " Mermaid" girl's legs separated" . BBC News. 7 September 2006. ^ TV program Body Shock , 10–11 pm, 18 May 2010, Channel 4 ^ Sammons, Mary Beth (November 26, 2009). "10-Year-Old Girl Born With Legs Fused Together" .
    AKT1, PTEN, RET, ITGA8, FGF20, DACT1, TBC1D24, GREB1L, BMP7, CYP26A1, SGPL1
    • Sirenomelia GARD
      Sirenomelia is a birth defect in which affected infants are born with a single lower extremity or with two legs that are fused together. The symptoms and physical findings associated with the condition vary greatly among affected individuals and may include malformations of the spine and skeletal system (commonly with vertebrae either absent or defective); absent or underdeveloped internal and external sex organs, rectum, kidneys and/or bladder; closed rectal opening (imperforate anus); and other abnormalities of the lower gastrointestinal tract. The exact cause is unknown, but it is believed to result from irregularities in early development of the blood circulating system within the embryo. Surgery has been successful in separating joined legs. Other treatment is symptomatic and supportive.
    • Sirenomelia Orphanet
      Sirenomelia is a rare, genetic, developmental defect during embryogenesis disorder characterized by fusion of the lower limbs and associated with some degree of lower extremity reduction and persistent vitelline artery. Patients also present severe malformations of the musculoskeletal system (e.g. sacral agenesis), as well as the urogenital and lower gastrointestinal tracts (e.g. renal agenesis, absent bladder, rectal/anal atresia, and absent internal genitalia). Most cases are stillborn, or die during, or shortly after, birth.
    • Sacral Defect With Anterior Meningocele OMIM
      A number sign (#) is used with this entry because of evidence that some cases of caudal regression are caused by heterozygous mutation in the VANGL1 gene (610132) on chromosome 1p13. Description Sacral defect with anterior meningocele (SDAM) is a form of caudal dysgenesis. It is present at birth and becomes symptomatic later in life, usually because of obstructive labor in females, chronic constipation, or meningitis. Inheritance is autosomal dominant (Chatkupt et al., 1994). Welch and Aterman (1984) gave a population frequency of 0.14%. Caudal dysgenesis syndrome and caudal regression syndrome are broad terms that refer to a heterogeneous constellation of congenital caudal anomalies affecting the caudal spine and spinal cord, the hindgut, the urogenital system, and the lower limbs.
  • Poland Syndrome Wikipedia
    Clarkson published his series of three cases and named the syndrome after Poland in his article. [18] According to the National Institute of Healh , Poland Syndrome affects 1 in 20,000 newborns (more males than females). [19] Notable cases [ edit ] TV presenter Jeremy Beadle (1948–2008) was known for having this condition. ... Several surgeries in his childhood repaired syndactyly on the left hand. [21] Actor Ted Danson , famous for starring in the TV show Cheers , admitted he had the condition in 2000 to Orange Coast magazine and said that he was bullied as a child because of it. [22] Formula One World Champion Fernando Alonso is affected by Poland syndrome; he is missing the right pectoral muscle. [23] Cricketer Lewis Hatchett was born with Poland syndrome. [24] Australian Paralympian Mathew Silcocks is affected by Poland syndrome. [25] Hailey Dawson of Nevada (born 2010) has a missing right pectoral muscle and is missing three fingers on her right hand due to the condition. She has thrown out the ceremonial first pitch at all 30 Major League Baseball parks , using a 3D-printed robotic right hand fitted for her by engineers at the University of Nevada, Las Vegas . [26] [27] [28] References [ edit ] ^ a b c d e f g h i j k l m n o Reference, Genetics Home (9 October 2018). ... Archived from the original on 12 July 2012. ^ "9-Year-Old Hailey Dawson Throws Out First Pitch At Camden Yards After Completing 'Journey To 30 ' " . WJZ-TV . August 2, 2019 . Retrieved October 3, 2019 . ^ Footer, Alyson (October 28, 2017).
  • Poliosis Wikipedia
    Catherine Cookson wrote a novel and later a TV series called The Mallen Streak , where a family had the condition. ... J Am Acad Dermatol . 69 (4): 625–33. doi : 10.1016/j.jaad.2013.05.022 . PMID 23850259 . } ^ Willacy H. (2010). "Tuberous Sclerosis" . PatientPlus .
    FAS, MITF, PTPN22, TMCO1, BHLHA9
  • Medical Students' Disease Wikipedia
    In popular culture [ edit ] An episode of the TV show Scrubs called "Our Driving Issues" features a class of medical students who, despite having been warned about medical students' disease, nevertheless suffer from it. In the Indian movie Dharmadhurai (Tamil) starring Vijay Sethupathy, one of the lead heroine Dr.Stella suffer from second year syndrome. In episode eight of the Canadian TV show Total Drama, season two, Total Drama Action, called "One Flu Over the Cuckoos Nest" features a challenge for the contestants where they are forced to read medical textbooks all night - combined with the lack of sleep many contestants had Medical Students' Disease, and in the end Leshawna is the one who calms the rest of the contestants down after figuring out that the diseases they all thought they had were fake, securing the win for her and her team.
  • Diastema Wikipedia
    Flattus Maximus , both of GWAR , Melanie Martinez , Becky G , Amy Winehouse , Laura Pausini , Edmund Sylvers , Elton John , Mac DeMarco , Seal , Flea , 50 Cent , Pharoahe Monch , guitarist Steve Howe , and singer Bobby Brown and his daughter Bobbi Kristina Brown ; [7] models Jessica Hart , Lindsey Wixson , Lauren Hutton , [8] Georgia May Jagger , [3] and Lara Stone ; American television news reporter and anchor Michelle Charlesworth ; American football player Michael Strahan ; association football player Ronaldo ; French tennis player Yannick Noah ; British Formula 1 World Champion Lewis Hamilton ; actresses Vanessa Paradis , Léa Seydoux , Amira Casar , Eve Myles , Cécile de France , Brigitte Bardot , Béatrice Dalle , Jorja Fox , Anna Paquin and Uzo Aduba , actors Ernest Borgnine , Terry-Thomas , Jemaine Clement , Willem Dafoe , Elijah Wood and Jamaica's Keith 'Shebada' Ramsay ; former late night TV show host David Letterman ; antiques expert and TV personality Tim Wonnacott ; comedians Jimmy Tarbuck "The Gap-Toothed Chuckle Chappy", Paul F.
    HMGB3, MGAT2, NHS, KDM5C, CHSY1, ACTL6B, IFT57, PACS1, UBE3B
  • Sarcomatoid Carcinoma Of The Lung Wikipedia
    Little is known about the effects of EGFR inhibitors in SC, although some evidence suggests that these tumors are not likely to be highly responsive. [2] Prognosis [ edit ] As a group, SCL prognosis is considered to be worse than that of most types of NSCLC. [ citation needed ] References [ edit ] ^ a b c d Travis, William D; Brambilla, Elisabeth; Muller-Hermelink, H Konrad; et al., eds. (2004). Pathology and Genetics of Tumours of the Lung, Pleura, Thymus and Heart (PDF) . ... PMID 2987102 . ^ Brambilla E, Travis WD, Colby TV, Corrin B, Shimosato Y (December 2001).
    ALK, CALB2, CLDN4, EGFR, GATA3, JAK2, MET, MUC4, KDM6B, EML4, RRM2B
  • Basaloid Large Cell Carcinoma Of The Lung Wikipedia
    Elisabeth Brambilla and her colleagues in 1992. [10] They were first recognized as distinct clinicopathological variants of both squamous cell and large cell lung cancers in 1999, within the third revision of the World Health Organization lung tumor typing and classification scheme. [3] References [ edit ] ^ a b Travis, William D; Brambilla, Elisabeth; Muller-Hermelink, H Konrad; Harris, Curtis C, eds. (2004). ... PMID 2987102 . ^ a b Brambilla E, Travis WD, Colby TV, Corrin B, Shimosato Y (December 2001).
  • Xyy Syndrome Wikipedia
    Archived from the original on 2010-03-07. ^ a b c d e f g h i Gravholt, Claus Højbjerg (2013). ... PMID 6031815 . S2CID 4158233 . Price, William H.; Whatmore, Peter B. (March 4, 1967). ... Court Brown, W. Michael; Price, William H.; Jacobs, Patricia A. (May 11, 1968). ... Jacobs, Patricia A.; Price, William H.; Court Brown, W. Michael; Brittain, Robert P.; Whatmore, Peter B. ... Court Brown, W. Michael; Price, William H.; Jacobs, Patricia A. (November 23, 1968).
    SRY
    • 47,xyy Syndrome Orphanet
      47, XYY syndrome is a sex chromosome aneuploidy where males receive an additional Y chromosome, and is characterized clinically by tall stature evident from childhood, macrocephaly, facial features (mild hypertelorism, low set ears, a mildly flat malar region), speech delay and an increased risk for social and emotional difficulties, attention deficit hyperactive disorder and autistic spectrum disorder.
  • Machado–joseph Disease Wikipedia
    It is named after two men ("William Machado" and "Antone Joseph") who were the patriarchs of the families in which the condition was initially described. [20] The highest prevalence of the condition is on Australia's Groote Eylandt where 5% of the population are currently symptomatic or at risk, [21] followed by the Azorean island of Flores where around 1 in 140 individuals in the population are diagnosed with MJD. [22] Notable cases [ edit ] Brazilian comedian, actor and TV personality Guilherme Karam was diagnosed with Machado–Joseph disease, having inherited it from his mother, like his brother and sister. [23] He died on 7 July 2016. [24] In a video on Facebook just days after Karam's death, Brazilian personality, journalist and television presenter, Arnaldo Duran publicly acknowledged his affliction with Machado-Joseph. ... Some disadvantages include the anticipation of negative results and the individual's difficulties in adapting to this outcome. [ citation needed ] References [ edit ] ^ a b c d e f g h i j k l m n Paulson, H. (8 March 2011). ... -W.; Watanabe, M.; Giunti, P.; Stevanin, G.; Riess, O.; Sasaki, H.; Hsieh, M.; Nicholson, G. A.; Brunt, E.; Higgins, J. ... Retrieved 2 February 2014 . ^ Noshir H. Wadia (2005). Neurological Practice: An Indian Perspective . ... Retrieved 14 October 2016 . ^ "Arnaldo Duran revela que está com doença neurológica degenerativa, sem cura e fatal - Entretenimento - R7 Famosos e TV" . 20 July 2016 . Retrieved 14 October 2016 . ^ Appel J, Friedman JH (January 2004).
    ATXN3, SLC18A2, TH, ATXN2, LY6E, CACNA1A, ATXN1, ATXN7, HTT, BECN1, FXN, APOE, VCP, TP53, DNAJB1, AR, ATN1, NFE2L2, HSPB2, TBP, PNKP, TK2, HSPB3, SNCA, CUL1, TTR, TPO, ATXN8OS, SOD1, SLC6A3, HSPB1, IL1RN, BEAN1, GFAP, CA8, DNAJB1P1, CAST, FUS, GEMIN4, RPPH1, ATG16L2, PLA2G6, ACY3, UBB, TNFRSF13C, HSP90B2P, RMDN2, PDIK1L, ATG12, TNF, ZUP1, FBXO33, TMC3, MIR370, MIR494, PPP1R1B, SNAP29, MSC, UBQLN2, RMDN1, RMDN3, DNMT3L, FLVCR1, FBXW7, BBC3, HSPB8, PLEKHG4, ATXN10, HSPBP1, TARDBP, SYBU, GABARAP, TWNK, CFDP1, TSHZ1, OPTN, PICK1, AICDA, TDO2, SERPINA3, TAF4, DNMT3A, IGFALS, HSP90AA1, HSPA4, HMBS, HCRT, GSTM2, GABPA, ELAVL3, EIF4G2, EFNA3, TOR1A, DMPK, IRF1, CTRL, CST3, CREBBP, CREB1, CDK5, CA11, BAX, AVP, ATM, ARSB, ACP1, IL6, IVL, SPTBN2, PLA2G2A, SOD2, SLC22A2, SLC2A1, SKP1, ASIC1, RORA, RANGAP1, RAB1A, PTPN13, PSMD2, POU2F2, PLA2G1B, KPNA3, PDYN, PAH, NPY, NEFL, ND4, ND1, MSI1, MMP2, FOXO4, KITLG, LAMP2, MIR543
    • Machado-Joseph Disease OMIM
      A number sign (#) is used with this entry because Machado-Joseph disease (MJD), also known as spinocerebellar ataxia-3 (SCA3), is caused by a heterozygous (CAG)n trinucleotide repeat expansion encoding glutamine repeats in the ataxin-3 gene (ATXN3; 607047) on chromosome 14q32. Normal individuals have up to 44 glutamine repeats, and MJD patients have between 52 and 86 glutamine repeats. Incomplete penetrance is associated with 45 to 51 repeats (Todd and Paulson, 2010). For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (164400). Description Machado-Joseph disease, named for affected families of Azorean extraction, is an autosomal dominant progressive neurologic disorder characterized principally by ataxia, spasticity, and ocular movement abnormalities.
    • Spinocerebellar Ataxia Type 3 Orphanet
      Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease, is the most common subtype of type 1 autosomal dominant cerebellar ataxia (ADCA type 1; see this term), a neurodegenerative disorder, and is characterized by ataxia, external progressive ophthalmoplegia, and other neurological manifestations. Epidemiology Prevalence is estimated to be 1-2 in 100,000 with significant geographical and ethnic variations: the highest prevalence has been found in the Azores (Flores Island (1/239)), intermediate prevalence rates in Portugal, Germany, the Netherlands, China and Japan, and lower prevalence in North America, Australia and India. Accurate estimates of prevalence are not available. However, SCA3 is the most common form of ADCA1 in most genetically characterized populations and accounts for up to 72 % of families with ataxia. Based on an English language literature review about 600 cases have been published. Clinical description SCA3 is divided into 3 forms. SCA3 type 1 (MJD Type 1, see this term) is associated with ataxia, ophthalmoparesis, pyramidal signs such as spasticity and hyperreflexia, and extrapyramidal signs including dystonia and other movement disorders presenting in adolescence.
    • Spinocerebellar Ataxia Type 3 GeneReviews
      Summary Clinical characteristics. Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease (MJD), is characterized by progressive cerebellar ataxia and variable findings including pyramidal signs, a dystonic-rigid extrapyramidal syndrome, significant peripheral amyotrophy and generalized areflexia, progressive external ophthalmoplegia, action-induced facial and lingual fasciculations, and bulging eyes. Neurologic findings tend to evolve as the disorder progresses. Diagnosis/testing. The diagnosis of SCA3 is established in a proband with suggestive findings and a heterozygous abnormal CAG trinucleotide repeat expansion in ATXN3 identified by molecular genetic testing. Management. Treatment of manifestations : Management is supportive as no medication slows the course of disease. The goals of treatment are to maximize function and reduce complications.
    • Spinocerebellar Ataxia Type 3 MedlinePlus
      Spinocerebellar ataxia type 3 (SCA3) is a condition characterized by progressive problems with movement. People with this condition initially experience problems with coordination and balance (ataxia). Other early signs and symptoms of SCA3 include speech difficulties, uncontrolled muscle tensing (dystonia), muscle stiffness (spasticity), rigidity, tremors, bulging eyes, and double vision. People with this condition may experience sleep disorders such as restless leg syndrome or REM sleep behavior disorder. Restless leg syndrome is a condition characterized by numbness or tingling in the legs accompanied by an urge to move the legs to stop the sensations.
    • Spinocerebellar Ataxia 3 GARD
      Spinocerebellar ataxia 3 (SCA3) is a rare, inherited form of ataxia . Signs and symptoms may begin between childhood and late adulthood and vary greatly. Symptoms may include slowly progressive clumsiness in the arms and legs; a manner of walking (gait) that may be mistaken for drunkenness; difficulty speaking and swallowing; impaired eye movements or vision; and lower limb spasticity. Some people with SCA3 develop dystonia or symptoms similar to those of Parkinson’s disease ; twitching of the face or tongue; nerve damage (neuropathy); or problems with urination and the autonomic nervous system . SCA3 is caused by a mutation in the ATXN3 gene and inheritance is autosomal dominant.
  • Polymelia Wikipedia
    Piglet with dipygus at Ukrainian National Chernobyl Museum in Kiev A four-legged chicken was born at Brendle Farms in Somerset, Pennsylvania , in 2005. [6] The story was carried on the major TV network news programs and USA Today . ... See also [ edit ] Dipygus Dysmelia Polydactyly Polysyndactyly Supernumerary body parts References [ edit ] ^ Google search ^ "Polymelia" . ^ Kelani, A. Bariath; Moumouni, H.; Younsa, H.; James Didier, L.; Hima, A.
  • Simulated Pregnancy Wikipedia
    Retrieved 2012-06-06 . ^ "Fake Pregnancy" . TV Tropes . Retrieved 2021-01-08 . This psychology -related article is a stub .
  • Rickettsialpox Wikipedia
    Mice were found in the basement of this building, as well as mites belonging to the same class found in Queens. [5] In addition to the initial cases from the first outbreak in Queens, over 500 cases of the disease were diagnosed in New York City from 1947 to 1951. [8] References in Media [ edit ] House (TV Series) , Season 7, Episode 7 ("A Pox On Our House") - a patient contracts rickettsialpox after breaking a glass jar found sealed in the bottom of a shipwreck [9] [10] [11] See also [ edit ] List of mites associated with cutaneous reactions Notes [ edit ] ^ " rickettsialpox " at Dorland's Medical Dictionary ^ "eMedicine - Rickettsialpox : Article by Julie A Ake" . 2019-07-10. ... External links [ edit ] Classification D ICD - 10 : A79.1 ICD - 9-CM : 083.2 MeSH : D012288 DiseasesDB : 32057 External resources MedlinePlus : 001351 eMedicine : med/2035 v t e Proteobacteria -associated Gram-negative bacterial infections α Rickettsiales Rickettsiaceae / ( Rickettsioses ) Typhus Rickettsia typhi Murine typhus Rickettsia prowazekii Epidemic typhus , Brill–Zinsser disease , Flying squirrel typhus Spotted fever Tick-borne Rickettsia rickettsii Rocky Mountain spotted fever Rickettsia conorii Boutonneuse fever Rickettsia japonica Japanese spotted fever Rickettsia sibirica North Asian tick typhus Rickettsia australis Queensland tick typhus Rickettsia honei Flinders Island spotted fever Rickettsia africae African tick bite fever Rickettsia parkeri American tick bite fever Rickettsia aeschlimannii Rickettsia aeschlimannii infection Mite-borne Rickettsia akari Rickettsialpox Orientia tsutsugamushi Scrub typhus Flea-borne Rickettsia felis Flea-borne spotted fever Anaplasmataceae Ehrlichiosis : Anaplasma phagocytophilum Human granulocytic anaplasmosis , Anaplasmosis Ehrlichia chaffeensis Human monocytotropic ehrlichiosis Ehrlichia ewingii Ehrlichiosis ewingii infection Rhizobiales Brucellaceae Brucella abortus Brucellosis Bartonellaceae Bartonellosis : Bartonella henselae Cat-scratch disease Bartonella quintana Trench fever Either B. henselae or B. quintana Bacillary angiomatosis Bartonella bacilliformis Carrion's disease , Verruga peruana β Neisseriales M+ Neisseria meningitidis/meningococcus Meningococcal disease , Waterhouse–Friderichsen syndrome , Meningococcal septicaemia M− Neisseria gonorrhoeae/gonococcus Gonorrhea ungrouped: Eikenella corrodens / Kingella kingae HACEK Chromobacterium violaceum Chromobacteriosis infection Burkholderiales Burkholderia pseudomallei Melioidosis Burkholderia mallei Glanders Burkholderia cepacia complex Bordetella pertussis / Bordetella parapertussis Pertussis γ Enterobacteriales ( OX− ) Lac+ Klebsiella pneumoniae Rhinoscleroma , Pneumonia Klebsiella granulomatis Granuloma inguinale Klebsiella oxytoca Escherichia coli : Enterotoxigenic Enteroinvasive Enterohemorrhagic O157:H7 O104:H4 Hemolytic-uremic syndrome Enterobacter aerogenes / Enterobacter cloacae Slow/weak Serratia marcescens Serratia infection Citrobacter koseri / Citrobacter freundii Lac− H2S+ Salmonella enterica Typhoid fever , Paratyphoid fever , Salmonellosis H2S− Shigella dysenteriae / sonnei / flexneri / boydii Shigellosis , Bacillary dysentery Proteus mirabilis / Proteus vulgaris Yersinia pestis Plague / Bubonic plague Yersinia enterocolitica Yersiniosis Yersinia pseudotuberculosis Far East scarlet-like fever Pasteurellales Haemophilus : H. influenzae Haemophilus meningitis Brazilian purpuric fever H. ducreyi Chancroid H. parainfluenzae HACEK Pasteurella multocida Pasteurellosis Actinobacillus Actinobacillosis Aggregatibacter actinomycetemcomitans HACEK Legionellales Legionella pneumophila / Legionella longbeachae Legionnaires' disease Coxiella burnetii Q fever Thiotrichales Francisella tularensis Tularemia Vibrionaceae Vibrio cholerae Cholera Vibrio vulnificus Vibrio parahaemolyticus Vibrio alginolyticus Plesiomonas shigelloides Pseudomonadales Pseudomonas aeruginosa Pseudomonas infection Moraxella catarrhalis Acinetobacter baumannii Xanthomonadaceae Stenotrophomonas maltophilia Cardiobacteriaceae Cardiobacterium hominis HACEK Aeromonadales Aeromonas hydrophila / Aeromonas veronii Aeromonas infection ε Campylobacterales Campylobacter jejuni Campylobacteriosis , Guillain–Barré syndrome Helicobacter pylori Peptic ulcer , MALT lymphoma , Gastric cancer Helicobacter cinaedi Helicobacter cellulitis v t e Mite -borne diseases and infestations Infestations Acariasis Baker's itch Cheyletiellosis Demodicosis Feather pillow dermatitis Gamasoidosis Grain itch Grocer's itch Rodent mite dermatitis Scabies Trombiculosis Other diseases House dust mite allergy Oral mite anaphylaxis List of mites associated with cutaneous reactions Species and bites Trombidiformes Demodex brevis / Demodex folliculorum demodicosis Demodex mite bite Trombicula trombiculosis Pyemotes herfsi Cheyletiella ( cheyletiellosis ) Leptotrombidium deliense Sarcoptiformes Sarcoptes scabiei scabies Mesostigmata Dermanyssus gallinae gamasoidosis Liponyssoides sanguineus rickettsialpox Other House dust mite
    • Rickettsialpox Orphanet
      A rare, acquired, self-limiting, infectious disease due to the mite-borne bacteria Rickettsia akari characterized by an asymptomatic, 0.5 to 2 cm in diameter papulovesicle that typically ulcerates and forms an eschar, followed by a generalized papulovesicular rash associating variable constitutional symptoms, such as localized lymphadenopathy, fever, malaise, and headaches. Additonal symptoms may include diaphoresis, myalgia and, less frequently, rhinorrhea, pharyngitis, nausea, vomiting, splenomegaly, conjunctival hyperemia, and abdominal pain. Systemic symtoms resolve within 6-10 days.
  • Amnesic Shellfish Poisoning Wikipedia
    In popular culture [ edit ] In the TV series Elementary episode "The Red Team" (original air date January 31, 2013), a witness is intentionally poisoned with domoic acid. ... M.; Gulland, F. M.; Rowles, T. K.; Schwacke, L. H. (2008). "Production and Toxicity of the Marine Biotoxin Domoic Acid and its Effects on Wildlife: A Review" (PDF) . ... L.; Fleming, L. E.; Solo-Gabriele, H.; Gerwick, W. H. (eds.). Oceans and Human Health: Risks and Remedies from the Sea . ... Marine Mammal Science . 28 (2): 237–253. doi : 10.1111/j.1748-7692.2011.00480.x . ^ Lelong, A.; Hégaret, H.; Soudant, P.; Bates, S. S. (2012). " Pseudo-nitzschia (Bacillariophyceae) Species, Domoic Acid and Amnesic Shellfish Poisoning: Revisiting Previous Paradigms".
  • Lymphangiomatosis Wikipedia
    American Journal of Roentgenology . 182 (4): 1068. doi : 10.2214/ajr.182.4.1821068 . PMID 15039189 . ^ a b c d e f g h i j k l m n o p q r s t u v w x Faul J.L., Berry G.J., Colby T.V., Ruoss S.J., Walter M.B, Rosen G.D., Raffin T.A. (2000). ... Web. 6 Sep 2011. http://www.pathologyoutlines.com/topic/softtissue3lymphangiomatosis.html . ^ a b c d e f g Tazelaar HD, Kerr D, Yousem SA, Saldana MJ, Langston C, Colby TV (Dec 1993). "Diffuse pulmonary lymphangiomatosis". ... J Thorac Cardiovasc Surg. 2007 Jun;133(6):1664-5. ^ Hakeem A, Gojwari TA, Reyaz S, Rasool S, Shafi H, Mufti S (Jan 2010). "Computed tomography findings in bilateral perinephric lymphangiomatosis" . ... CS1 maint: multiple names: authors list ( link ) ^ a b Swensen SJ, Hartman TE, Mayo JR, Colby TV, Tazelaar HD, Müller NL (1995). "Diffuse pulmonary lymphangiomatosis: CT findings".
    GLA, NRAS, AKT1, NBEAP1, PIK3CA, PIK3CB, PIK3CD, PIK3CG, PTEN, POTEB
  • Vaginitis Wikipedia
    While the exact association between trichomoniasis infection and HIV genital shedding has not been consistently demonstrated, "there is good evidence that TV treatment reduces HIV genital shedding. ... Retrieved October 14, 2018 . ^ a b c d e f g h "Overview of Vaginitis" . Merck Manuals Professional Edition . ... New York: Bantam. pp. 297–9. ^ Choices, N. H. S. (2018). "What causes a woman to bleed after sex? ... PMID 22509319 . ^ Senok AC; Verstraelen H; Temmerman M; Botta GA (October 2009). ... PMID 26679628 . ^ Wang, C.; Han, C.; Geng, N.; Fan, A.; Wang, Y.; Yue, Y.; Zhang, H.; Xue, F. (2016). "Efficacy of oral moxifloxacin for aerobic vaginitis".
    PLG, SOD1, CDR1, GLA, IGFALS, IL2, IVD, MBL2, ABCB1, SLC5A2, TBC1D9, MIR1976
    • Vaginitis Mayo Clinic
      Overview Vaginitis is an inflammation of the vagina that can result in discharge, itching and pain. The cause is usually a change in the balance of vaginal bacteria or an infection. Reduced estrogen levels after menopause and some skin disorders also can cause vaginitis. The most common types of vaginitis are: Bacterial vaginosis. This results from an overgrowth of the bacteria naturally found in your vagina, which upsets the natural balance. Yeast infections. These are usually caused by a naturally occurring fungus called Candida albicans.
  • Hepatoblastoma Wikipedia
    Uncommon liver cancer occurring in infants and children Hepatoblastoma Micrograph of a hepatoblastoma. H&E stain . Specialty Oncology Hepatoblastoma is an uncommon malignant liver cancer occurring in infants and children and composed of tissue resembling fetal liver cells, mature liver cells, or bile duct cells. ... Pathophysiology [ edit ] Micrograph showing a hepatoblastoma (right of image) and normal liver (left of image). H&E stain . Liver tumor types by relative incidence in adults in the United States, with hepatoblastoma at right. [4] Hepatoblastomas originate from immature liver precursor cells, are typically unifocal, affect the right lobe of the liver more often than the left lobe, and can metastasize . ... PMID 16106429 . ^ Anna CH, Sills RC, Foley JF, Stockton PS, Ton TV, Devereux TR (June 2000). "Beta-catenin mutations and protein accumulation in all hepatoblastomas examined from B6C3F1 mice treated with anthraquinone or oxazepam" .
    CTNNB1, IGF2, APC, TGFA, PCNA, GPC3, TP53, AXIN1, ABCB1, CDKN2A, HNF1A, PPARA, CDK1, MYC, CDKN1A, PTK2, INSR, CDH1, KRAS, MET, CASP3, HNF4A, DNMT1, ABCA1, ENG, NR1H4, TERT, FAS, XDH, HAMP, SAV1, TFRC, IL10, IL6ST, TGFBR2, COL18A1, HPRT1, HNRNPD, HNRNPA2B1, VAV1, MTHFD2, SMAD2, RGN, GJB2, GC, G6PD, FTH1, FOXM1, FHIT, MCM9, GMPS, MIR106B, MIR145, EP300, HIF1A, SMAD4, PTGS2, NFE2L1, PTEN, IQGAP2, CADM1, PPAT, FOXP1, POLG, PLAU, GNMT, ABCB4, SRSF1, PFAS, SHC1, TXNIP, TEK, LPAR1, ND5, COX1, ING3, UACA, MME, SKP2, MECP2, PPP1R9A, SRF, MCM7, CARM1, A2M, ABCC3, CASP9, MIR96, AKR1B1, CTSL, CTSB, CSK, APRT, MIR195, MIR25, ASNS, MIR93, AKT2, ALDOC, C3, CAD, DNMT3A, CCNE1, DNMT3B, MIR181C, MIR18A, CAPN3, CASP8, CDKN1C, H19, KCNQ1OT1, KCNQ1, SETBP1, SKIV2L, AFP, SLC37A4, TTC37, H19-ICR, GPC4, TNF, IL6, SELENOI, TBC1D9, NQO1, APOB, BCL2, YAP1, IL1B, AXIN2, EGFR, NFE2L2, ACTB, PLAG1, GATA4, VEGFA, THPO, TAC1, SMARCB1, GLUL, HGF, PIK3CD, PSC, PLK1, PIK3CG, EPCAM, PIK3CA, PIK3CB, EPO, CYP3A4, PROM1, MIR21, APOA1, CAT, KRT19, RASSF1, APOE, HSPG2, ALB, MYCN, DCTN6, SLC22A18, SERPINA7, MIR492, SERPINB3, SPOP, GPR162, ROCK1, REG1A, PSMD9, ADIPOQ, DKK1, H3P23, ZNRD2, SREBF2, CCND1, ATM, DKK3, AKT1, TMED7-TICAM2, AGT, POR, TACR1, EGF, MT1G, CDKN1B, CDKN2C, CEBPA, IGFBP3, IGFBP2, IGF1, IFI27, ICAM1, SLC38A1, HOXD13, HLF, GLI1, GCG, SLCO6A1, MTOR, AMER1, MIR193A, TICAM2, GSTK1, ELANE, PIM3, TMED7, MLH1, SERPINA6, CD44, TUG1, MSH2, MIR214, GREB1, PCLAF, KEAP1, ASZ1, MIR19B1, NR1I3, GOLM1, MIR206, SAR1B, ZFAS1, PGR-AS1, ATRAID, STUB1, CTXND1, SIGMAR1, TPPP2, MYCNOS, MIR378A, NLRP3, WDR20, ZNF197, SLC35G1, LAMTOR1, IL1RL1, MIR17, BTRC, MALAT1, ERRFI1, CLDN2, CLDN1, NEAT1, HGS, PCSK9, CIB2, SLC33A1, PPIG, CDC20B, LOC110806263, ABCG2, EEF1E1, PRDX6, KLK4, H3P12, MIR371A, DERL3, DNLZ, MIR302D, DLK1, MIR1250, SIRT1, MIR34A, SF3B1, SMUG1, OIP5-AS1, WWTR1, IL25, LPIN1, POTEF, POU5F1P4, DRAM1, CRNDE, HHIP, POU5F1P3, NDRG2, PNPLA2, APOM, DESI1, CAPRIN2, MYDGF, ASAP1, CIB1, NKD1, SYVN1, HTATIP2, MIR217, DERL2, MIR222, KREMEN1, POSTN, ANLN, RALY, MIR224, CXXC4, MIR4510, LUCAT1, UHRF1, ASRGL1, DLL1, PIM2, NANOG, CELF1, PTCH1, FADD, GLB1, NR5A2, FN1, FOXG1, FGFR3, FAP, F7, F2, EZH2, ESRRB, ESR1, ERBB2, EPOR, EPHB2, EIF4EBP1, DVL2, GABPA, HAL, BECN1, HDAC1, LECT2, LDLR, LCN2, CXCR2, IGF1R, IFNG, MRPL58, HTC2, HSPB1, HSPA5, HES1, HMOX1, HMGCS1, HK1, HDAC2, DPEP1, DNASE1, DAPK3, CYP7A1, BAK1, BAAT, ATP6V0A1, ATP6V1B1, ATP4A, ATP12A, ARG1, FASLG, APOC3, BIRC5, ANPEP, ALPG, AHR, AGTR1, PARP1, BAX, BRCA2, CALCA, CFTR, CYP2B6, CYP1A2, CYP1A1, CST3, CLDN7, ABCC2, CFL1, CCK, CEBPB, CDKN3, CDKN2B, CDC25C, CD34, CCNA2, LIF, CYP4F3, SMAD7, S100A6, TGFB1, TEP1, TEAD4, ZEB1, TBX3, TAZ, TAT, ABCC8, STAT3, SOX2, SOAT1, SLC6A6, SHH, SHBG, SFRP1, THY1, TLR4, TMSB4X, YY1, SOCS1, TEAD2, ACOX2, MAFK, USP7, MAP3K12, WT2, TOP1, WNT1, VIPR1, UROD, UCP2, UBE2I, TTR, CXCL5, RRM1, CD46, RPL36A, SERPINE1, P2RX5, OXA1L, OTC, NOS2, NOS1, NQO2, NEUROD1, MTTP, MT1F, MT1B, CITED1, MPO, MDM4, MDM2, REG3A, SERPINF1, ATP8B1, PSMD10, RBBP8, RB1, PVT1, NECTIN1, PTPN13, PTPN11, MAPK3, PIM1, MAPK1, PTPA, PPBP, PPARG, POU5F1, POLD1, H3P10
    • Hepatoblastoma Orphanet
      A malignant hepatic tumor, typically affecting the pediatric population, arising mostly in an otherwise healthy liver. The most common signs are addominal distension and abdominal mass. Sometimes patients present with anorexia, weight loss, fatigue. Most HBLs are sporadic, but some cases are associated with genetic factors, especially overgrowth syndromes, such as Beckwith-Wiedemann syndrome (BWS) or hemihypertrophy, and familial adenomatous polyposis (FAP). Epidemiology Hepatoblastoma (HB) accounts for about 0,5-2% of all pediatric tumors and for 2/3 of primary hepatic tumors in children. Its incidence is estimated to be 1/1,000,000 in Europe and 1-1,5/1,000,000 in USA.
    • Hepatoblastoma GARD
      Hepatoblastoma is a rare malignant (cancerous) tumor of the liver that usually occurs in the first 3 years of life. In early stages of the condition, there may be no concerning signs or symptoms. As the tumor gets larger, affected children may experience a painful, abdominal lump; swelling of the abdomen; unexplained weight loss; loss of appetite; and/or nausea and vomiting. The exact underlying cause of hepatoblastoma is poorly understood. Risk factors for the tumor include prematurity with a very low birth weight, early exposure to hepatitis B infection, biliary atresia, and several different genetic conditions (i.e. Beckwith-Wiedemann syndrome , familial adenomatous polyposis , Aicardi syndrome , Glycogen storage disease , and Simpson-Golabi-Behmel syndrome ).
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