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  • White Dot Syndromes Wikipedia
    Ophthalmology Review Manual. 2000:560. ^ Carrasco L, Ramos M, Galisteo R, Pisa D, Fresno M, Gonzalez ME. ... American Journal of Ophthalmology, 135(3), 380-381. ^ Travis GH, Golczak M, Moise AR, Palczewski K. Diseases Caused by Defects in the Visual Cycle: Retinoids as Potential Therapeutic Agents.
  • Absent-Mindedness Wikipedia
    . ^ Weissman, D. H.; Roberts, K. C.; Visscher, K. M.; Woldorff, M. G. (July 2006). "The neural bases of momentary lapses in attention". ... The Psychologist . 16 (9): 476–479. ^ Giambra, L. M. (1995). "A laboratory method for investigating influences on switching attention to task-unrelated imagery and thought" .
  • Spondylocostal Dysostosis Wikipedia
    The syndrome was first described by Saul Jarcho and Paul M. Levin at Johns Hopkins University in 1938. [1] Contents 1 Genetics 2 Diagnosis 2.1 Subtypes and characteristics 2.2 Spondylothoracic dysplasia 2.3 Spondylocostal dysostosis 3 Management 4 Prognosis 5 Epidemiology 6 Terminology 7 References 8 Further reading 9 External links Genetics [ edit ] Types include: Type OMIM Gene Locus SCDO1 277300 DLL3 19q13 SCDO2 608681 MESP2 15q26.1 SCDO3 609813 LFNG 7p22 SCDO4 122600 GDF6 8q22.1 Diagnosis [ edit ] Subtypes and characteristics [ edit ] In 1968, Dr. ... Patient 3: white girl, nine days old, with thoracolombar meningocele. 10 Sparrow DB et al. 2008 1 Caucasian Mediterranean child with hydrocephalus and myelomeningocele, shortened thorax, ectopic and stenotic anus, and talipes associated with SCDO-4 11 Çetinkaya M et al. 2008 1 Male child born at 40 weeks of gestation with lumbosacral myelomeningocele. 12 Kansal R et al. 2011 1 One and half year old male child of Jarcho–Levin syndrome with spina bifida and diastematomyelia (type I split cord malformation) 13 Dizostozis ES et al. 2013 1 2-year-old female, with double nipples on the right side and type I split cord malformation and tethered cord 14 Anjankar SD et al. 2014 1 8 month old male child with lipomyelomeningocele with rib cage defect on left side 15 Rafid Alaskary 2017 2 5 days old neonate with hydrocephalus and spina bifida with absence of 7 ribs in the left side of the chest wall with vertebral deformity and scoliosis. ... Retrieved 21 January 2019 . ^ Franceschini, P.; Grassi, E.; Fabris, C.; Bogetti, G.; Randaccio, M. (1974). "The autosomal recessive form of spondylocostal dysostosis".
    DLL3, TBX6, RIPPLY2, HES7, MESP2, LFNG, PAX1, ROR2, PAX9, SOX9, SLC35A3, GDF6
    • Spondylocostal Dysostosis 6, Autosomal Recessive Omim
      A number sign (#) is used with this entry because of evidence that spondylocostal dysostosis-6 (SCDO6) is caused by compound heterozygous mutation in the RIPPLY2 gene (609891) on chromosome 6q14. One such family has been reported. For a general phenotypic description and a discussion of genetic heterogeneity of spondylocostal dysostosis, see SCDO1 (277300). Clinical Features McInerney-Leo et al. (2015) studied 2 brothers with segmentation defects of the vertebrae. The proband had failure of formation of the posterior elements of C1 to C4 with descent of the occipital bone, causing spinal canal stenosis and spinal cord compression. He also displayed hemivertebrae and butterfly vertebrae between T2 and T7, resulting in mild thoracic scoliosis.
    • Spondylocostal Dysostosis Gard
      Spondylocostal dysostosis is a group of conditions characterized by abnormal development of the bones in the spine and ribs. In the spine, the vertebrae are misshapen and fused. Many people with this condition have an abnormal side-to-side curvature of the spine (scoliosis). The ribs may be fused together or missing. These bone malformations lead to short, rigid necks and short midsections. Infants with spondylocostal dysostosis have small, narrow chests that cannot fully expand. This can lead to life-threatening breathing problems. Males with this condition are at an increased risk for inguinal hernia , where the diaphragm is pushed down, causing the abdomen to bulge out.
    • Spondylocostal Dysostosis 3, Autosomal Recessive Omim
      A number sign (#) is used with this entry because of evidence that autosomal recessive spondylocostal dysostosis-3 (SCDO3) is caused by homozygous or compound heterozygous mutation in the LFNG gene (602576) on chromosome 7p22. For a phenotypic description and a discussion of genetic heterogeneity of spondylocostal dysostosis, see 277300. Clinical Features Sparrow et al. (2006) reported a proband of Lebanese background who presented with extensive congenital vertebral anomalies; long, slender fingers; and camptodactyly of the left index finger. X-ray and magnetic resonance imaging (MRI) scans showed multiple vertebral ossification centers in the thoracic spine, which showed fitted angular shapes similar to those seen in the patient with spondylocostal dysostosis (SCDO2; see 608681) caused by mutation in the MESP2 gene (605195) (Whittock et al., 2004). Severe foreshortening of the spine was emphasized by comparison of the patient's arm span (186.5 cm) with adult height (155 cm; lower segment 92.5 cm).
    • Spondylocostal Dysostosis 2, Autosomal Recessive Omim
      A number sign (#) is used with this entry because autosomal recessive spondylocostal dysostosis-2 (SCDO2) is caused by homozygous or compound heterozygous mutation in the MESP2 gene (605195) on chromosome 15q26. Description Spondylocostal dysostosis is a term given to a heterogeneous group of disorders characterized by abnormal vertebral segmentation. For a general phenotypic description and a discussion of genetic heterogeneity of the disorder, see SCDO1 (277300). Clinical Features Whittock et al. (2004) studied a consanguineous Lebanese Arab family in which 2 offspring were affected with spondylocostal dysostosis. Affected individuals presented with trunkal shortening and short necks but no other abnormalities.
    • Spondylocostal Dysostosis 1, Autosomal Recessive Omim
      A number sign (#) is used with this entry because autosomal recessive spondylocostal dysostosis-1 (SCDO1) is caused by homozygous or compound heterozygous mutation in the DLL3 gene (602768) on chromosome 19q13. Description The spondylocostal dysostoses are a heterogeneous group of axial skeletal disorders characterized by multiple segmentation defects of the vertebrae (SDV), malalignment of the ribs with variable points of intercostal fusion, and often a reduction in rib number. The term 'spondylocostal dysostosis' is best applied to those phenotypes with generalized SDV and a broadly symmetric thoracic cage (summary by Gucev et al., 2010). Genetic Heterogeneity of Spondylocostal Dysostosis Other forms of SCDO include SCDO2 (608681), caused by mutation in the MESP2 gene (605195) on chromosome 15q26; SCDO3 (609813), caused by mutation in the LFNG gene (602576) on chromosome 7p22; SCDO4 (613686), caused by mutation in the HES7 gene (608059) on chromosome 17p13; SCDO5 (122600), caused by mutation in the TBX6 gene (602427) on chromosome 16p11; and SCDO6 (616566), caused by mutation in the RIPPLY2 gene (609891) on chromosome 6q14. Clinical Features Lavy et al. (1966) observed 4 of 7 offspring of a third-cousin marriage who had characteristic vertebral anomalies including hemivertebrae and block vertebrae accompanied by deformity of the ribs.
    • Spondylocostal Dysostosis Medlineplus
      Spondylocostal dysostosis is a group of conditions characterized by abnormal development of bones in the spine and ribs. The bones of the spine (vertebrae) are misshapen and abnormally joined together (fused). Many people with this condition have abnormal side-to-side curvature of the spine (scoliosis ) due to malformation of the vertebrae. In addition to spinal abnormalities, some of the rib bones may be fused together or missing. Affected individuals have short, rigid necks and short torsos because of the bone malformations.
    • Autosomal Recessive Spondylocostal Dysostosis Orphanet
      A rare condition of variable severity associated with vertebral and rib segmentation defects and characterised by a short neck with limited mobility, winged scapulae, a short trunk, and short stature with multiple vertebral anomalies at all levels of the spine. Epidemiology The incidence and prevalence are unknown. The disease seems to be more frequent in the Puerto Rican population. Clinical description Autosomal recessive spondylocostal dysostosis (ARSD) is usually diagnosed in the neonatal period. The main skeletal malformations include fusion of the vertebrae, hemivertebrae, and rib fusion with other rib malformations. Deformity of the chest and spine (severe scoliosis, kyphoscoliosis and lordosis) is a natural consequence of these malformations and leads to a dwarf-like appearance.
    • Spondylothoracic Dysostosis Gard
      Spondylothoracic dysostosis (STD) is a rare condition that affects the bones of the spine and the ribs. The term “Jarcho-Levin syndrome” in many cases is used as a synonym for STD, and sometimes as a synonym for another condition known as spondylocostal dysostosis , which has several common features with STD. Also, the term “Jarcho-Levin syndrome” is often used for all radiologic features that include defects of the vertebrae and abnormal rib alignment. Signs and symptoms of STD are generally present at birth and may include short-trunk dwarfism (a short body with normal length arms and legs); a small chest cavity; misshapen and abnormally-fused vertebrae (bones of the spine); and fused ribs at the part nearest the spine. Affected people may also have life-threatening breathing problems and recurrent lung infections, which can significantly reduce lifespan.
    • Spondylocostal Dysostosis 4, Autosomal Recessive Omim
      A number sign (#) is used with this entry because spondylocostal dysostosis-4 (SCDO4) is caused by homozygous or compound heterozygous mutation in the HES7 gene (608059) on chromosome 17p13. For a general phenotypic description and a discussion of genetic heterogeneity of spondylocostal dysostosis (SCDO), see SCDO1 (277300). Clinical Features Sparrow et al. (2008) described a consanguineous family of Caucasian Mediterranean origin in which the proband was diagnosed prenatally with hydrocephalus and myelomeningocele, and at birth was found to have a bell-shaped, symmetric, and shortened thorax, lumbosacral myelomeningocele, ectopic and stenotic anus, and talipes. Radiologic examination showed shortening of the spine, with multiple and contiguous vertebral segmentation defects involving all spinal regions, but mainly the thoracic spine. The ribs had very crowded origins on the left side, and were irregularly aligned with variable points of fusion along their length on the right side.
    • Spondylothoracic Dysostosis Medlineplus
      Spondylothoracic dysostosis is a condition characterized by malformation of the bones of the spine and ribs. The bones of the spine (vertebrae) do not develop properly, which causes them to be misshapen and abnormally joined together (fused). The ribs are also fused at the part nearest the spine (posteriorly), which gives the rib cage its characteristic fan-like or "crab" appearance in x-rays. Affected individuals have short, rigid necks and short torsos because of the bone malformations. As a result, people with spondylothoracic dysostosis have short bodies but normal-length arms and legs, called short-trunk dwarfism.
  • Internet Sex Addiction Wikipedia
    Retrieved 2 April 2013 . ^ Laier, C.; Pawlikowski, M.; Pekal, J.; Schulte, F. P.; Brand, M. (2013). ... "Sex on the superhighway: Understanding and treating cybersex addiction". In Carnes, P. J.; Adams, K. M. (eds.). Clinical Management of Sex Addiction .
  • Gingival Cyst Wikipedia
    They are developed late in life, generally up to the sixth decade of age. [1] References [ edit ] ^ a b Browne, Roger M. (1991). "The Classification of Odontogenic Cysts". In Browne, Roger M. (ed.). Investigative Pathology of Odontogenic Cysts . ... Pediatric Dermatology . 29 (3): 301–305. doi : 10.1111/j.1525-1470.2011.01433.x . PMID 21995277 . ^ Larralde, M.; Luna, P.C. (2011). "Bening Oral Neonatal Lesions".
  • Steatorrhea Wikipedia
    PMID 20626336 . ^ Dogliotti, L; Tampellini, M; Stivanello, M; Gorzegno, G; Fabiani, L (2001). ... But while Alli's most troublesome side effect, anal leakage, is sure to be good for a few laughs, millions of people who are desperate to take off weight may still decide the threat of an accident is worth it. ^ Traoret, C J; Lokko, P; Cruz, A C R F; Oliveira, C G; Costa, N M B; Bressan, J; Alfenas, R C G; Mattes, R D (2007).
    BAAT, SLC7A7, CYP7B1, EIF2AK3, CTRC, SHPK, SBDS, SAR1B, PTRH2, HYMAI, EFL1, CLMP, HSD3B7, COX4I2, ANTXR2, DNAJC21, PTF1A, TJP2, ACOX2, CFTR, ABCC8, EPHX1, HLA-DQA1, HLA-DQB1, KCNJ11, LBR, LIPA, PEX12, PLAGL1, PNLIP, PRSS1, PRSS2, SLC10A2, SPINK1, AKR1D1, SRP54, ZFP57
  • Phossy Jaw Wikipedia
    P; Baron, R; Buckland, D. H; Cooke, M. A; Craig, J. D; Duffield, D. P; Grosart, A. ... RDH Magazine . July 2009. ^ a b c d e Myers, M. L; McGlothlin, J. D (1996). "Matchmakers' "phossy jaw" eradicated" . ... Retrieved on 2018-04-12. ^ Durie BG; Katz M; Crowley J (July 2005). "Osteonecrosis of the jaw and bisphosphonates".
  • Abortion In Japan Wikipedia
    . ^ “Sosei Receives Approval From Japan MHLW for NorLevo(R) TABLETS 0.75mg Emergency Contraceptive Pill”, Sosei Group Corporation press release, 23 February 2011 ^ a b c d e f g h i j k l m Norgren, Tiana. Abortion before Birth Control: The Politics of Reproduction in Postwar Japan Princeton, NJ: Princeton University Press, 2001. ^ Obayashi, M. (1982). ... Tokyo; Mainichi Newspapers. ^ J Stage Environmental Health and Preventative Medicine vol. 10 2005 [ permanent dead link ] ^ a b Goto, A., Fujiyama-Koriyama, C., Fukao, A., & Reich, M. "Abortion Trends in Japan, 1975–95".
  • Congenital Dyserythropoietic Anemia Wikipedia
    .; Paraskevas, Frixos; Rodgers, George M. (2013-08-29). Wintrobe's Clinical Hematology . ... PMID 12933587 . ^ a b Iolascon, A.; Esposito, M. R.; Russo, R. (2012-12-01). "Clinical aspects and pathogenesis of congenital dyserythropoietic anemias: from morphology to molecular approach" . ... Further reading [ edit ] Greer, John P.; Arber, Daniel A.; Glader, Bertil; List, Alan F.; Means, Robert T.; Paraskevas, Frixos; Rodgers, George M. (2013-08-29). Wintrobe's Clinical Hematology .
    SEC23B, KLF1, C15orf41, CDAN1, LPIN2, MAN2A1, GATA1, CD44, TSPYL2, RPS19, CDAN3, AICDA, PARP1, MINDY4, HFE, APP, GANC, G6PD, CDKN2C, CDKN2A, CDA, CAD, AQP1, RN7SL263P
    • Congenital Dyserythropoietic Anemia Orphanet
      Congenital dyserythropoietic anemia (CDA) is a heterogenous group of hematological disorders of late erythropoiesis and red cell abnormalities that lead to anemia. Five types of CDA are defined: CDA I, CDA II, CDA III, CDA IV and thrombocytopenia with CDA (see these terms). Epidemiology A global CDA prevalence figure is not precisely known. Over a 42 year period (1967-2009), 122 CDA I and 367 CDA II cases were reported in Europe. About 60 cases of CDA III have been reported worldwide as well as 4 cases of CDA IV to date. Three families have been reported to have thrombocytopenia with CDA. Clinical description Onset of CDA generally occurs in childhood or early adulthood, even if clinical signs can occasionally be observed in the neonatal period.
    • Congenital Dyserythropoietic Anemia Gard
      Congenital dyserythropoietic anemia is a hereditary disease that affects the production of red blood cells (erythropoiesis) and is characterized by anemia and problems in various organs. The signs and symptoms may include fatigue, weakness, pale skin, yellowing of the skin and eyes (jaundice), larger-than-normal liver and spleen (hepatosplenomegaly), and problems of the heart. There are four major types of the condition. Each type has a different cause and the additional signs and symptoms mentioned below: Type 1 : Characterized by moderate to severe anemia; jaundice; hepatosplenomegaly; and iron overload, which can lead to heart problems, liver disease (cirrhosis), and diabetes. Some people are born with skeletal defects of the fingers and/or toes. In some cases, the disease can be detected before birth as a hydrops fetalis .
  • Human Genetic Enhancement Wikipedia
    -Reum; Kim, Daesik; Kim, Sang-Tae; Gong, Jianhui; Gu, Ying; Xu, Xun; Battaglia, David; Krieg, Sacha A.; Lee, David M.; Wu, Diana H.; Wolf, Don P.; Heitner, Stephen B.; Belmonte, Juan Carlos Izpisua; Amato, Paula; Kim, Jin-Soo; Kaul, Sanjiv; Mitalipov, Shoukhrat (August 2017). ... PMID 18070247 . ^ Alexander, Brian; Warner-Schmidt, Jennifer; Eriksson, Therese M.; Tamminga, Carol; Arango-Lievano, Margarita; Ghose, Subroto; Vernov, Mary; Stavarache, Mihaela; Musatov, Sergei; Flajolet, Marc; Svenningsson, Per; Greengard, Paul; Kaplitt, Michael G. (20 October 2010). ... PMID 20178983 . ^ Spencer, Brian; Marr, Robert A; Rockenstein, Edward; Crews, Leslie; Adame, Anthony; Potkar, Rewati; Patrick, Christina; Gage, Fred H; Verma, Inder M; Masliah, Eliezer (12 November 2008).
  • Hypertonia Wikipedia
    . ^ Sanger, T. D.; Chen, D.; Delgado, M. R.; Gaebler-Spira, D.; Hallett, M.; Mink, J. ... PMID 2350220 . ^ Potempa, K.; Lopez, M.; Braun, L. T.; Szidon, J. P.; Fogg, L.; Tincknell, T. (1995).
    OXT, ACOX1, PLK4, AFG3L2, POLR3A, PLPBP, POLG2, RNF13, FAN1, NFASC, ARHGEF9, ADNP, ATP13A2, CLCF1, NIPBL, COG4, NECAP1, TINF2, MLH3, TUBGCP4, HTRA2, GMPPB, POMT2, WDR4, EBP, RRM2B, POMT1, PLA2G6, CASK, CDK13, EED, KYNU, SMC3, SLC6A5, LARGE1, CRLF1, ADGRG1, PLAA, ITM2B, EIF2AK3, KMT2B, MFN2, HUWE1, ALG3, GPHN, ABCA7, TUBB4A, TOMM40, PSAT1, TPRKB, NAA10, IRF2BPL, ARV1, ACD, FTO, MBOAT7, FKRP, SLC19A3, ASXL3, TRAF7, ATAD1, WDR73, TUBGCP6, PRRT2, TP53RK, TANGO2, VPS37A, B3GALNT2, ARX, BRAT1, TSEN54, EOGT, SLC6A19, SEMA4A, IFIH1, OTUD6B, ZSWIM6, RTEL1, TREM2, MAGEL2, DLL4, TMEM106B, NCAPG2, PHIP, PNPO, SETD5, POMGNT1, OSGEP, VAC14, NUP133, HDAC8, KMT2E, DNAJC12, TWNK, COQ9, NUP107, ARHGAP31, DOCK6, LAGE3, SMC1A, SLC25A4, KCNQ2, ERCC5, ERCC6, ERF, EYA1, EZH2, FKTN, GALC, GAMT, GBA, GLRA1, GLRB, GM2A, GRIN2A, GRIN2D, MSH6, H1-4, HEXA, HLCS, HNRNPH2, HSPG2, RBPJ, ERCC2, ERCC1, EIF2S3, LYST, APP, ATP5F1D, ATP7A, BCKDHA, BCKDHB, BMPR1A, BRAF, BTD, CACNA1A, CP, TOR1A, DBT, DCX, DHCR7, CYB5R3, DKC1, DMPK, DPAGT1, DPYD, DYRK1A, KCNA1, KCNQ3, TTPA, KRAS, PSEN2, PSPH, PTS, QDPR, RAB27A, RAD21, RANBP2, RPS20, SCN2A, SCN4A, SCN8A, SLC1A4, SLC6A3, SLC6A8, SLC6A9, SORL1, SOX10, SUOX, TERT, TGFBR2, TP53, PSEN1, PSAP, PRF1, NOTCH1, LAMA2, EPCAM, MGAT2, MIPEP, MLH1, KMT2A, MSH2, MYO5A, NDP, OGDH, POLG, OTX2, PAH, PARN, PAX1, PCBD1, PIK3CA, PITX3, PMS1, PMS2, LINC02245
  • Puerperal Disorder Wikipedia
    PMID 22439056 . ^ Glazener, Cathryn M. A.; Abdalla, Mona; Stroud, Patricia; Templeton, Allan; Russell, Ian T.; Naji, Simon (April 1995). ... S2CID 23788896 . ^ Pearson, Gail D.; Veille, Jean-Claude; Rahimtoola, Shahbudin; Hsia, Judith; Oakley, Celia M.; Hosenpud, Jeffrey D.; Ansari, Aftab; Baughman, Kenneth L. (1 March 2000). ... PMID 16724884 . ^ a b Olde, E; Vanderhart, O; Kleber, R; Vanson, M (January 2006). "Posttraumatic stress following childbirth: A review".
  • Orofacial Granulomatosis Wikipedia
    Treatment [ edit ] Anti-tumour necrosis factor α drugs (e.g. infliximab ) [10] Dietary restriction of a particular suspected or proven antigen may be involved in the management of OFG, such as cinnamon or benzoate-free diets. [8] Epidemiology [ edit ] OFG is uncommon, but the incidence is increasing. [2] The disease usually presents in adolescence or young adulthood. [6] It may occur in either sex, but males are slightly more commonly affected. [6] History [ edit ] OFG was first described in 1985. [1] References [ edit ] ^ a b c d e Grave, B; McCullough, M; Wiesenfeld, D (January 2009). "Orofacial granulomatosis--a 20-year review". ... ISBN 978-1840761818 . ^ Welbury R; Duggal M; Hosey MT (2012). Paediatric dentistry (4th ed.). ... ISBN 9780702049484 . ^ Zbar, AP; Ben-Horin, S; Beer-Gabel, M; Eliakim, R (March 2012). "Oral Crohn's disease: is it a separable disease from orofacial granulomatosis?
    NOD2, BTNL2, IL23R
    • Orofacial Granulomatosis Gard
      Orofacial granulomatosis (OFG) is a condition characterized by granulomatous inflammation of regions of the mouth, jaw and face ( maxillofacial), in the absence of a recognised systemic condition known to cause granulomas. Features include lip enlargement, swelling inside and around the mouth, oral ulcerations (sores), and inflammation of the gums ( gingivitis). There may be only swelling inside the mouth or permanent disfiguring swelling of the lips and face. OFG includes granulomatous cheilitis (when it presents as a persistent or recurrent lip swelling), and Melkersson-Rosenthal syndrome (which includes CG, facial nerve palsy and fissured tongue) that can manifest with only CG. In some cases, orofacial granulomatosis is part of another disease such as Crohn's disease , sarcoidosis , and infectious diseases such as tuberculosis .
  • Posterior Reversible Encephalopathy Syndrome Wikipedia
    Of the blood pressure lowering agents available, nitrates may need to be avoided as there is a concern that this may aggravate the PRES even while lowering the blood pressure. [1] In PRES secondary to pre-eclampsia, magnesium sulfate may be administered. [1] Prognosis [ edit ] With adequate treatment, 70-90% of people with PRES make a full recovery within hours to days. 8–17% of people with PRES die, [1] although this is not always a direct consequence of the PRES. [4] Of those who have residual symptoms after PRES, this is attributable largely to hemorrhage. [1] [3] Non-resolution of MRI abnormalities has been linked with poorer outcomes. [3] If PRES was caused by pre-eclampsia the prognosis is better than in PRES due to other causes. [1] Factors that predict poorer prognosis are the person's age, the level of C-reactive protein in the blood (a marker of inflammation), altered mental state at the time of diagnosis, and altered markers of coagulation . [1] People with diabetes may have a worse outcome, and abnormalities in the corpus callosum on MRI have been linked with worse prognosis. [4] Some patterns on electroencephalography (EEG) are also associated with a poorer outcome. [1] After an episode of PRES, even when it was associated with seizure activity, only a small proportion of people remains at risk of ongoing seizures and the majority can eventually discontinue anticonvulsant treatment. [2] Epidemiology [ edit ] The incidence (number of cases per year) of PRES is not known, but increasing use of MRI scans has led to increased recognition. [1] [3] [4] History [ edit ] PRES was first described in 1996 in a group of 15 patients identified retrospectively in the records of the New England Medical Center in Boston and Hôpital Sainte Anne in Paris. [2] [6] The name was revised in 2000 from "leukencephalopathy" to "encephalopathy" as the former suggested that it only affects the white matter of the brain, which is not the case. [4] References [ edit ] ^ a b c d e f g h i j k l m n o p q r s t u v w x y z aa ab ac Liman, Thomas G.; Siebert, Eberhard; Endres, Matthias (February 2019). ... S2CID 54471795 . ^ a b c d e f g h i j k l m n o Fischer, Marlene; Schmutzhard, Erich (4 January 2017). ... PMID 28054130 . ^ a b c d e f g h i j k l m n o p q r s Tetsuka, Syuichi; Ogawa, Tomoko (September 2019).
    TGFB1
  • Relationship Obsessive–compulsive Disorder Wikipedia
    OCLC 233635903 . [ page needed ] ^ Radomsky, Adam S.; Alcolado, Gillian M.; Abramowitz, Jonathan S.; Alonso, Pino; Belloch, Amparo; Bouvard, Martine; Clark, David A.; Coles, Meredith E.; Doron, Guy; Fernández-Álvarez, Hector; Garcia-Soriano, Gemma; Ghisi, Marta; Gomez, Beatriz; Inozu, Mujgan; Moulding, Richard; Shams, Giti; Sica, Claudio; Simos, Gregoris; Wong, Wing (2014). ... Journal of Obsessive-Compulsive and Related Disorders . 3 (3): 269–279. doi : 10.1016/j.jocrd.2013.09.002 . ^ Moulding, Richard; Coles, Meredith E.; Abramowitz, Jonathan S.; Alcolado, Gillian M.; Alonso, Pino; Belloch, Amparo; Bouvard, Martine; Clark, David A.; Doron, Guy; Fernández-Álvarez, Héctor; García-Soriano, Gemma; Ghisi, Marta; Gómez, Beatriz; Inozu, Mujgan; Radomsky, Adam S.; Shams, Giti; Sica, Claudio; Simos, Gregoris; Wong, Wing (2014). ... Behaviour Research and Therapy . 35 (7): 667–681. 1997. doi : 10.1016/s0005-7967(97)00017-x . PMID 9193129 . ^ Salkovskis, Paul M. (1989). "Cognitive-behavioural factors and the persistence of intrusive thoughts in obsessional problems".
  • Interrupted Aortic Arch Wikipedia
    .; Williams, Marc S.; Lin, Angela E.; Graham, John M. (2 July 2016). "CHARGE Association: An Update and Review for the Primary Pediatrician". ... PMID 15227058 . ^ Sharma, Mukti; Sasikumar, M; Karloopia, SD; Shahi, BN (April 2001). ... Further reading [ edit ] Collins-Nakai, RL; Dick, M; Parisi-Buckley, L; Fyler, DC; Castaneda, AR (1976).
    FGFR1, GATA6, KRAS, TBX1, SEMA3E, CHD7, SMG9, MMP21, DIS3L2, CFD, FOXC2, HOXA1, HTC2
    • Aortic Arch Interruption Orphanet
      A rare heart defect characterized by complete lack of anatomical continuity between the transverse aortic arch and the descending thoracic aorta. AAI should be distinguished anatomically from atresia of the aortic arch where continuity between these segments is achieved by an imperforate fibrous strand of various lengths.
  • Sex Differences In Medicine Wikipedia
    . ^ editors, Committee on Understanding the Biology of Sex and Gender Differences; Theresa M. Wizemann and Mary-Lou Pardue (2001). ... ISBN 978-0-89042-555-8 . ^ Di Carlo A, Baldereschi M, Amaducci L, Lepore V, Bracco L, Maggi S, Bonaiuto S, Perissinotto E, Scarlato G, Farchi G, Inzitari D (January 2002). ... PMID 17626963 . ^ Alegria, Analucia A.; Blanco, Carlos; Petry, Nancy M.; Skodol, Andrew E.; Liu, Shang-Min; Grant, Bridget; Hasin, Deborah (July 2013).
  • Fetal Adenocarcinoma Wikipedia
    . ^ a b c d Thompson RJ, Hasleton PS, Taylor PM, Woodhead M, Byrd LM (2010). "Haemoptysis in pregnancy caused by a well-differentiated fetal adenocarcinoma: a case report" . ... PMC 2823759 . PMID 20205788 . ^ Longo M, Levra MG, Capelletto E, et al. (April 2008). ... PMID 8666362 . ^ a b c d e Cutler CS, Michel RP, Yassa M, Langleben A (February 1998). "Pulmonary blastoma: case report of a patient with a 7-year remission and review of chemotherapy experience in the world literature" .
    TP53, DICER1
  • Tick Paralysis Wikipedia
    Tick repellents containing DEET (N,N, diethyl-m-toluamide) are only marginally effective and can be applied to skin or clothing. ... Retrieved June 9, 2018 . ^ Doube B. M. (1975). "Cattle and Paralysis Tick Ixodes-Holocyclus". ... PMID 1220655 . ^ B. F. Stone; K. C. Binnington; M. Gauci; J. H. Aylward (1989). "Tick/host interactions forIxodes holocyclus: Role, effects, biosynthesis and nature of its toxic and allergenic oral secretions".
  • 5α-Reductase Deficiency Wikipedia
    Notable people with 5α-Reductase deficiency [ edit ] Caster Semenya [12] See also [ edit ] Intersex Disorders of sexual development , pseudohermaphroditism , and ambiguous genitalia Inborn errors of steroid metabolism 5α-Reductase ( I , II ) Androgen ( testosterone and dihydrotestosterone ) Ambiguous genitalia Intersex surgery Androgen insensitivity syndrome References [ edit ] ^ a b "5-alpha reductase deficiency" . GPnotebook . ^ Bahceci M, Ersay AR, Tuzcu A, Hiort O, Richter-Unruh A, Gokalp D (2005). ... PMID 16098368 . ^ Eberhard Nieschlag; Hermann M. Behre; Susan Nieschlag (July 2009). ... Retrieved 2017-03-08 . ^ Imperato-McGinley J, Miller M, Wilson JD, Peterson RE, Shackleton C, Gajdusek DC (Apr 1991).
    SRD5A2, AR, HSD17B3, GART, GHR, PRPH2, SHBG, PAICS
    • Pseudovaginal Perineoscrotal Hypospadias Omim
      A number sign (#) is used with this entry because pseudovaginal perineoscrotal hypospadias (PPSH) is caused by homozygous or compound heterozygous mutation in the steroid 5-alpha-reductase-2 gene (SRD5A2; 607306) on chromosome 2p23. Description Pseudovaginal perineoscrotal hypospadias is a form of male pseudohermaphroditism in which 46,XY males show ambiguous genitalia at birth, including perineal hypospadias and a blind perineal pouch, and develop masculinization at puberty. The name of the disorder stems from the finding of a blind-ending perineal opening resembling a vagina and a severely hypospadiac penis with the urethra opening onto the perineum. Clinical Features De Vaal (1955) reported 3 brothers who were thought for a time to be girls. The parents and grandparents on one side were first cousins, and the great-grandparents were also related.
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