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Roemheld Syndrome
Wikipedia
The American Journal of Emergency Medicine . 36 (8): 1525.e5–1525.e7. doi : 10.1016/j.ajem.2018.05.002 . ... S2CID 21725954 . ^ "Current Medical Literature volume 97 number 12" (PDF) . p882 This complex of symptoms, for which the term "gastrocardiac syndrome" (gastric cardiopathy ^ "Clinical experience of treating 82 cases of gastric cardiac syndrome with traditional Chinese medicine" . ^ a b Modestus, Jamey Franciscus (October 2011). ... International Journal of Cardiology . 54 (3): 231–6. doi : 10.1016/0167-5273(96)02601-0 . PMID 8818746 . ^ Sharma, Shekhar.
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Catamenial Epilepsy
Wikipedia
Broadly defined, estrogen and its many forms are thought to be “proconvulsant,” whereas progesterone is thought to be “anticonvulsant” by virtue of its conversion to the neurosteroid allopregnanolone . [5] Estrogen (estradiol, estrone, estriol) [ edit ] Estrogen can be found in the female body in various forms, all of which affect women with catamenial epilepsy. Estrone (E1), estradiol (E2), and estriol (E3) are the three principal circulating estrogens in the body. These three forms influence neuronal excitability, but very little is known about their inter-hormone interactions, the relative concentrations and ratios of E1/E2/E3 and how that may influence the seizure frequency behavior in women with epilepsy. ... "Control of uterine estrogen receptor levels by progesterone" . Endocrinology . 98 (2): 438–44. doi : 10.1210/endo-98-2-438 . ... "Hormone Replacement Therapy: Will it affect seizure control and AED levels?" . Seizure . 17 (2): 176–80. doi : 10.1016/j.seizure.2007.11.026 .
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Pilon Fracture
Wikipedia
"Decisions and staging leading to definitive open management of pilon fractures: where have we come from and where are we now?". J Orthop Trauma . 26 (8): 488–98. doi : 10.1097/BOT.0b013e31822fbdbe . PMID 22357091 . ^ Crist, BD; Khazzam, M; Murtha, YM; Della Rocca, GJ (Oct 2011). ... Journal of Orthopaedics, Trauma and Rehabilitation . 24 : 84–89. doi : 10.1016/j.jotr.2017.08.001 . ^ Jacob N, Amin A, Giotakis N, Narayan B, Nayagam S, Trompeter AJ (November 2015). ... "Tibial pilon fractures: which method of treatment?". Injury . 41 (11): 1183–90. doi : 10.1016/j.injury.2010.08.041 .
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Mitochondrial Dna Depletion Syndrome 8a (Encephalomyopathic Type With Renal Tubulopathy)
Omim
A number sign (#) is used with this entry because mitochondrial DNA depletion syndromes 8A (MTDPS8A) and 8B (MTDPS8B) are caused by homozygous or compound heterozygous mutation in the RRM2B gene (604712) on chromosome 8q22. ... Description Mitochondrial DNA depletion syndrome-8A is a severe autosomal recessive disorder characterized by neonatal hypotonia, lactic acidosis, and neurologic deterioration. ... Mitochondrial DNA depletion syndrome-8B is characterized by ophthalmoplegia, ptosis, gastrointestinal dysmotility, cachexia, peripheral neuropathy, and brain MRI changes, known as the MNGIE phenotype (Shaibani et al., 2009). ... Molecular Genetics In 3 Moroccan sibs with severe autosomal recessive mtDNA depletion syndrome-8A, Bourdon et al. (2007) identified homozygous or compound heterozygous mutations in the RRM2B gene (604712.0001-604712.0005). Kollberg et al. (2009) reported 2 Sudanese brothers, born of consanguineous parents, with a severe form of fatal autosomal recessive encephalomyopathic mtDNA depletion syndrome-8B caused by a homozygous mutation in the RRM2B gene (G229V; 604712.0007).
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Hypobetalipoproteinemia, Familial, 2
Omim
In the third kindred, the proband presented at 85 years of age with an acute respiratory tract infection, at which time she was found to have marked hypolipidemia. She died suddenly at 91 years of age. Martin-Campos et al. (2012) studied 2 unrelated Spanish families with hypobetalipoproteinemia, including a brother and sister from the first family and a male patient from the second, who showed the typical lipid profile of FHBL, with total, HDL, and LDL cholesterol and triglyceride levels below the 5th percentile of the age- and sex-matched Spanish population. ... All family members studied were carriers of the common E3/E3 APOE genotype (107741.0015) except for 1 individual who was E2/E2 (107741.0001). ... Subsequently, 44 human participants, with triglyceride levels of either 90 to 150 mg per deciliter or greater than 150 mg per deciliter, depending on the dose group, were randomly assigned to receive subcutaneous injections of placebo or an antisense oligonucleotide targeting ANGPTL3 mRNA in a single dose (20, 40, or 80 mg) or multiple doses (10, 20, 40, or 60 mg per week for 6 weeks).
- Teratospermia Wikipedia
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Acute Liver Failure
Wikipedia
Proc. Soc. Exp. Biol. Med . 222 (2): 99–112. doi : 10.1046/j.1525-1373.1999.d01-120.x . ... PMID 8095592 . S2CID 20859855 . ^ a b c Gimson AE (1996). "Fulminant and late onset hepatic failure". ... "Early indicators of prognosis in fulminant hepatic failure". Gastroenterology . 97 (2): 439–45. doi : 10.1016/0016-5085(89)90081-4 . ... Seminars in Liver Disease . 23 (3): 271–82. doi : 10.1055/s-2003-42645 . PMID 14523680 . ... PMID 3732998 . S2CID 46521479 . ^ Gimson AE, O'Grady J, Ede RJ, Portmann B, Williams R (1986).TNF, ATP7B, HGF, FAS, ALB, IL1RN, GC, MAPK8, KRT8, KRT18, GFER, FASLG, CSF3, SERPINC1, CAST, GPNMB, PANX1, CD74, FST, POMC, SCO1, ALDOB, INHBA, INS, IL6, TLR4, CASP3, NOS3, PTGS2, ABCC2, NOS2, MET, CD14, CASP9, ATM, KCNJ10, PTAFR, CASP12, UCP2, COL1A2, HSPA8, FGA, BRIP1, THBD, INS-IGF2, LTC4S, NBAS, POLG, RINT1, TRMU, FAH, POLG2, JAK2, SCYL1, MST1, PORCN, HADH, GPT, GPR35, VPS13A, MPV17, ITCH, F5, CYC1, RYR1, GFM1, ACAD9, IKZF1, MEFV, CACNA1S, EIF2AK3, LARS1, TCF4, HLA-B, HMGB1, IL1B, F2, CCL4, IL10, MIR122, HMOX1, PPARA, STON1, AFM, GTF2A1L, MIR223, NLRP3, SLC1A2, HDAC2, STON1-GTF2A1L, HDAC6, MSC, IL1A, UGT1A, TP53, SLC17A5, ABCG2, SYT1, CXCL12, PEBP1, OTC, PRKAA1, RELA, WNK1, BCHE, AFP, IFNG, AHSG, GORASP1, GSK3B, PIM3, DDIT3, DGUOK, EXOSC3, BCL2L11, MIR17, MFN2, MIR155, ABCB6, AIM2, BTBD8, YAP1, IFNL3, PPARGC1B, APOA5, PIK3IP1, LMLN, MIR19A, LONP1, MIR210, ATG7, PPIG, MIR214, RGN, TIMELESS, SQSTM1, MIR375, MIR1224, TNFRSF10B, RIPK1, OCLN, BECN1, SOCS1, ARHGEF5, SHANK3, KHDRBS1, TXNIP, KCTD9, HAMP, ACKR3, NAT10, HAVCR1, SIGLEC9, PDLIM3, IGHV1-3, ATRNL1, TLR9, STX18, ERO1A, SCLC1, RRM2B, SLC25A37, CXCL16, NUP62, SERAC1, SLC27A5, DCTN4, CYSLTR1, CCL27, SLA2, EVA1A, TMPRSS13, SESN2, SIRT1, PARP9, ASRGL1, DHDDS, GSDMD, SIRT2, TBC1D9, TFEB, ACADM, VWF, GABPA, CYP2E1, CYP3A4, ESR1, FABP1, FABP7, FBP1, FCGR3A, FCGR3B, FOXO3, G6PD, GFAP, VIP, CXCR3, GTF2H1, HIF1A, HNF4A, HSPA5, HSPG2, ID1, IFNA1, IFNA13, IFNB1, CYP1A2, CX3CR1, CTNNB1, CTLA4, AHR, AKT1, ALAS1, ALPP, AMCN, AQP4, AR, ATHS, BCL2, OPN1SW, BID, BST2, CASP8, CD86, ENTPD1, CD40LG, CEL, CGA, CCR5, KLF6, CRP, IL1R1, IL2, CXCL8, S100A10, CCL2, SDC1, SLC6A12, SLC12A2, SLPI, SOAT1, STAR, STAT1, STAT3, MAP3K7, PPP1R11, TGFB1, TGFBR2, THBS1, THPO, TLR2, TLR3, TNFAIP3, TNFAIP6, TXN, UGT2B7, S100A12, RHD, IL18, ACP3, ITGAM, MARS1, KMT2A, MPO, MSMB, COX2, MYD88, NFE2L2, NT5E, SERPINE1, ABCB1, PIK3CA, PIK3CB, PIM1, PIK3CD, PIK3CG, SERPINF2, PPP2R5A, PRKAA2, PRKAB1, RBP4, MTCO2P12
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Pulmonary Capillary Hemangiomatosis
Wikipedia
Pathol Res Pract . 192 (3): 290–5, discussion 296–9. doi : 10.1016/S0344-0338(96)80232-9 . PMID 8739476 . ^ El-Gabaly M, Farver CF, Budev MA, Mohammed TL (2007). ... The American Journal of Surgical Pathology . 30 (7): 850–857. doi : 10.1097/01.pas.0000209834.69972.e5 . PMID 16819327 . S2CID 25595167 . ^ Chaisson NF, Dodson MW, Elliott CG (2016) Pulmonary Capillary Hemangiomatosis and Pulmonary Veno-occlusive Disease. ... Chest 151(4):821-828 ^ Park MA, Shin SY, Kim YJ, Park MJ, Lee SH (2017) Vascular Ehlers-Danlos syndrome with cryptorchidism, recurrent pneumothorax, and pulmonary capillary hemangiomatosis-like foci: A case report.Medicine (Baltimore) 96(47):e8853 ^ Diao XL, Mu XD, Jin ML (2017) Pulmonary capillary hemangiomatosis associated with CREST syndrome: A challenge of diagnosis and treatment. ... Acta Med Okayama 69(3):129-136 ^ Szturmowicz M, Kacprzak A, Szołkowska M, Burakowska B, Szczepulska E, Kuś J (2018) Pulmonary veno-occlusive disease: pathogenesis, risk factors, clinical features and diagnostic algorithm - state of the art. Adv Respir Med 86(3) ^ Sposito Cavallo SL, Macias Sobrino LA, Marenco Altamar LJ, Mejía Alquichire AF (2017) Congenital pulmonary capillary hemangiomatosis in a newborn.
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High Ankle Sprain
Wikipedia
Since the talus is wider anteriorly (in the front) than posteriorly (at the back), as the front of the foot is raised (dorsiflexed) reducing the angle between the foot and lower leg to less than 90°, then the mortise is confronted with an increasingly wider talus. ... In some cases, the diagnosis is only made after treatment for the more common, lateral, ankle sprain fails. [2] Diagnosis may also be delayed because swelling is usually minor or nonexistent and the true nature of the injury unappreciated. [3] A variety of diagnostic tests have been described such as the 'squeeze' (compressing the tibia and fibula above the midpoint of the calf), 'dorsiflexion with compression' (patient dorsiflexes the foot while the examiner compresses the internal and external malleolus), and 'external rotation' (patient sits with leg dangling and ankle at 90° and external rotation then applied to the foot) etc. ... "Diagnosis and treatment of acute ankle injuries: development of an evidence-based algorithm" . Orthop Rev (Pavia) . 4 (1): e5. doi : 10.4081/or.2012.e5 . PMC 3348693 .
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Gluten-Sensitive Enteropathy–associated Conditions
Wikipedia
Depression and anger may also be the result of lower quality of life issues as a result of gluten-free diet. [86] Depression appears to persist on gluten free diet in a sizable fraction of GSE. [87] Elevated anger has been noted also with GSE. ... Reduced iron and the lack of vitamins folate, B 6 , B 12 and malabsorption of essential fatty acids can cause depression and chronic fatigue. [90] Anti-gliadin antibodies correlate with higher risk for chronic-fatique when no clinical finding of CD is present. [91] While fatigue is reduced on gluten-free diet, bouts of depression can become worse. [90] Connective tissue disorders [ edit ] Arthritis [ edit ] Some instance of arthritis with small bowel villous atrophy have been found to resolve on gluten free diet, [92] and anti-connective tissue antibodies have been found in increased levels in celiac disease. [93] Anti-rheumatoid factor antibodies are also increased. [94] In addition, cross-reactive anti-beef-collagen antibodies (IgG) may explain some rheumatoid arthritis (RA) incidences. [95] Although the presence of anti-beef collagen antibodies does not necessarily lead to RA, the RA association with Triticeae consumption is secondary to GSE and involves DRB1*0401/4 linkages to DQ8 [96] and is debatable. ... PMID 16609761 . ^ Hodgson HJ, Davies RJ, Gent AE (1976). "Atopic disorders and adult coeliac disease". ... British Journal of Obstetrics and Gynaecology . 82 (4): 293–6. doi : 10.1111/j.1471-0528.1975.tb00637.x . ... Endosc . 50 (6): 823–827. doi : 10.1016/S0016-5107(99)70166-5 . PMID 10570344 . ^ Nanda R, Anand BS (1993).
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Pachyonychia Congenita
Gene_reviews
Diagnosis Clinical diagnostic criteria for pachyonychia congenita (PC) include the triad of toenail thickening, plantar keratoderma, and plantar pain, which is present in 97% of individuals with genetically confirmed PC by age ten years [International Pachyonychia Research Registry, Eliason et al 2012]. ... Molecular Genetic Testing Used in Pachyonychia Congenita (PC) View in own window Gene 1 Proportion of PC Attributed to Pathogenic Variants in Gene 2, 3 Proportion of Pathogenic Variants 4 Detectable by Method Sequence analysis 5 Gene-targeted deletion/duplication analysis 6 KRT6A 304/774 (39%) >99% Unknown 7 KRT6B 70/774 (9%) >99% Unknown 7 KRT6C 22/774 (3%) >99% Unknown 7 KRT16 247/774 (32%) >99% Unknown 7 KRT17 8 130/774 (17%) >99% Unknown 7 1. ... International Pachyonychia Congenita Research Registry (IPCRR) Data Summary (as of 10 May 2017) View in own window Gene in Which Pathogenic Variants Were Confirmed KRT6A KRT6B KRT6C KRT16 KRT17 TOTAL Number evaluated for finding 1 304 71 22 247 130 774 Toenails thickened 10 toenails 286 (94%) 26 (37%) 0 (00%) 99 (40%) 100 (77%) 511 (66%) 7-9 toenails 9 (03%) 14 (20%) 0 (00%) 52 (21%) 11 (08%) 86 (11%) 4-6 toenails 2 (01%) 21 (30%) 3 (14%) 63 (26%) 7 (05%) 96 (12%) 1-3 toenails 4 (01%) 9 (13%) 10 (45%) 44 (18%) 8 (06%) 75 (10%) Total w/toenails thickened 301 (99%) 70 (99%) 13 (59%) 238 (96%) 126 (97%) 748 (97%) Age at onset Birth - <1 yr 264 (88%) 10 (14%) 1 (08%) 45 (19%) 92 (73%) 412 (54%) 1-4 yrs 33 (11%) 19 (27%) 6 (46%) 78 (33%) 24 (19%) 160 (21%) 5-14 yrs 4 (01%) 34 (49%) 4 (31%) 74 (31%) 10 (08%) 126 (17%) ≥15 yrs 0 (00%) 7 (10%) 2 (15%) 43 (18%) 1 (01%) 53 (07%) Fingernails thickened 10 fingernails 271 (89%) 4 (06%) 0 (00%) 73 (30%) 62 (48%) 410 (53%) 7-9 fingernails 10 (03%) 4 (06%) 0 (00%) 11 (04%) 13 (10%) 38 (05%) 4-6 fingernails 14 (05%) 17 (24%) 0 (00%) 30 (12%) 28 (22%) 89 (11%) 1-3 fingernails 6 (02%) 7 (10%) 0 (00%) 28 (11%) 9 (07%) 50 (06%) Total w/fingernails thickened 301 (99%) 32 (45%) 0 (00%) 142 (57%) 112 (86%) 587 (76%) Age at onset Birth - <1 yr 267 (89%) 4 (13%) 0 (00%) 33 (23%) 85 (76%) 389 (66%) 1-4 yrs 30 (10%) 8 (25%) 0 (00%) 42 (30%) 19 (17%) 99 (17%) 5-14 yrs 3 (01%) 11 (34%) 0 (00%) 34 (24%) 6 (05%) 54 (09%) ≥15 yrs 1 (00%) 10 (31%) 0 (00%) 34 (24%) 3 (03%) 48 (08%) Plantar keratoderma Always (never completely goes away) 254 (84%) 67 (94%) 19 (86%) 240 (97%) 86 (66%) 666 (86%) Sometimes (feet clear up completely at times) 7 (02%) 1 (01%) 0 (00%) 1 (00%) 14 (11%) 23 (03%) Seldom (feet usually clear of symptoms) 5 (02%) 0 (00%) 0 (00%) 0 (00%) 4 (03%) 9 (01%) Total w/plantar keratoderma 266 (88%) 68 (96%) 19 (86%) 241 (98%) 104 (80%) 698 (90%) Age at onset Birth - <1 yr 39 (15%) 2 (03%) 1 (05%) 23 (10%) 12 (12%) 77 (11%) 1-4 yrs 152 (57%) 23 (34%) 9 (47%) 130 (54%) 35 (34%) 349 (50%) 5-14 yrs 70 (26%) 42 (62%) 9 (47%) 82 (34%) 43 (41%) 246 (35%) ≥15 yrs 5 (02%) 1 (01%) 0 (00%) 8 (03%) 15 (14%) 29 (04%) Plantar pain w/plantar keratoderma 2 Often require medication for pain 65 (24%) 12 (18%) 5 (26%) 74 (31%) 19 (18%) 175 (25%) Very painful, but do not use medication 114 (43%) 32 (47%) 11 (58%) 111 (46%) 34 (33%) 302 (43%) Somewhat painful 77 (29%) 24 (35%) 3 (16%) 50 (21%) 36 (35%) 190 (27%) Total w/plantar keratoderma/pain 256 (96%) 68 (100%) 19 (100%) 235 (98%) 89 (86%) 667 (96%) Palmar keratoderma Always (never completely goes away) 86 (28%) 11 (15%) 2 (09%) 148 (60%) 21 (16%) 268 (35%) Sometimes (hands clear up completely at times) 32 (11%) 7 (10%) 1 (05%) 15 (06%) 22 (17%) 77 (10%) Seldom (hands usually clear of symptoms) 49 (16%) 13 (18%) 3 (14%) 22 (09%) 27 (21%) 114 (15%) Total w/palmar keratoderma 167 (55%) 31 (44%) 6 (27%) 185 (75%) 70 (54%) 459 (59%) Additional findings Oral leukokeratosis 269 (88%) 18 (25%) 4 (18%) 88 (36%) 34 (26%) 413 (53%) Cysts 188 (62%) 49 (69%) 4 (18%) 64 (26%) 121 (93%) 426 (55%) Follicular hyperkeratosis 162 (53%) 30 (42%) 0 (00%) 30 (12%) 86 (66%) 308 (40%) Natal or prenatal teeth 12 (04%) 0 (00%) 0 (00%) 0 (00%) 99 (76%) 111 (14%) 1.
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Endocardial Fibroelastosis
Wikipedia
EFE has two distinct genetic forms, each having a different mode of inheritance . ... Many of the cases of infantile cardiac failure were accordingly called "primary cardiomyopathy" as well as "primary EFE", while those with identifiable congenital anomalies stressing the heart were called "secondary EFE". ... After each epidemic there were increased numbers of cases with EFE coming to autopsy. On closer study there were cases of pure acute myocarditis, cases of mixed myocarditis and EFE, and cases where myocarditis had healed, leaving just EFE. ... It seems undeniable that transplacental mumps infection had been in the past the major cause of EFE, and that immunization was indeed the cause of EFE having become rare. [ citation needed ] Non-infectious causes of EFE have also been studied, spurred by the opening of new avenues of genetics research. ... EFE can now be found non-invasively by the recording of increased endocardial echos.
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Chemotherapy-Induced Acral Erythema
Wikipedia
With each subsequent cycle of chemotherapy, the reaction will appear more quickly, be more severe and will take longer to heal. [24] History [ edit ] Hand-foot syndrome was first reported in association with chemotherapy by Zuehlke in 1974. [25] Synonyms for acral erythema (AE) include: hand-foot syndrome, palmar-plantar erythrodysesthesia, peculiar AE, chemotherapy-induced AE, toxic erythema of the palms and soles, palmar-plantar erythema, and Burgdorf's reaction. ... Palmar-plantar rash with cytarabine therapy". N. Engl. J. Med . 364 (3): e5. doi : 10.1056/NEJMicm1006530 . PMID 21247311 . ^ a b c Baack BR, Burgdorf WH (1991). ... Dermatol . 24 (3): 457–61. doi : 10.1016/0190-9622(91)70073-b . PMID 2061446 . ^ Demirçay Z, Gürbüz O, Alpdoğan TB, Yücelten D, Alpdoğan O, Kurtkaya O, Bayik M (1997). ... "Erythematous eruption of the palms and soles associated with mitotane therapy". Dermatologica . 148 (2): 90–2. doi : 10.1159/000251603 . PMID 4276191 .
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Celiac Disease, Susceptibility To, 1
Omim
Thus, the estimated biopsy-proved prevalence was 1 case in 99 children. All but 2 of the antibody-positive subjects had either the HLA-DQ2 or the HLA-DQ8 haplotype. ... Pathogenesis Falchuk et al. (1972) found that a particular HLA type (A8) showed an abnormally high frequency in patients with this disorder. ... Antibody occurred in these persons regardless of whether HLA-B8 and/or HLA-DR3 antigen was present. ... Simoons (1981) observed a negative correlation between the frequency of antigen HLA-B8 and the length of time that wheat farming has been practiced in various parts of Europe. ... Like celiac disease, dermatitis herpetiformis shows a high frequency of HLA-A8 (Falchuk et al., 1972; Katz et al., 1972).
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Microalbuminuria
Wikipedia
Andersen S, Blouch K, Bialek J, Deckert M, Parving HH, Myers BD (2000). "Glomerular permselectivity in early stages of overt diabetic nephropathy". ... Lancet . 355 (9200): 253–9. doi : 10.1016/S0140-6736(99)12323-7 . PMID 10675071 . Lemley KV, Abdullah I, Myers BD, et al. (2000). ... Controlled Clinical Trials . 21 (4): 383–96. doi : 10.1016/S0197-2456(00)00060-X .
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Dopamine Supersensitivity Psychosis
Wikipedia
The people that met the criteria were more likely than others to have worse symptoms when their psychosis returned (relapsed), have residual psychotic symptoms, had overall worse health outcomes at 6 month follow-up, and were more likely to live in residential care. [14] Further reading [ edit ] Chouinard G, Jones BD (1980). "Neuroleptic-induced supersensitivity psychosis: clinical and pharmacologic characteristics". ... Katzung & Trevor's Pharmacology: Examination & Board Review (12 ed.). McGraw-Hill. ^ Chouinard G, Jones BD, Annable L (1978). "Neuroleptic-induced supersensitivity psychosis". ... "Tardive psychosis: Does it exist?". Psychopharmacology . 94 (1): 144–5. doi : 10.1007/BF00735897 . ... Schizophr Res . 5 (1): 21–33. doi : 10.1016/0920-9964(91)90050-2 . PMID 1677263 . ^ Whitaker, Robert (2015).
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Tethered Spinal Cord Syndrome
Wikipedia
Thieme Medical Publishers, Inc. p. 90. ISBN 978-1-60406-241-0 . The diagnosis of TCS is primarily based on neurological and musculoskeletal signs and symptoms. ... "Pediatric urodynamics: basic concepts for the neurosurgeon" . Neurosurg Focus . 23 (2): E8. doi : 10.3171/FOC-07/08/E8 . PMID 17961012 . ^ Hadley, H. ... ISBN 978-1-60406-241-0 . ^ "TETHERED CORD SYNDROME" . ^ Iskandar BJ, Fulmer BB, Hadley MN, Oakes WJ (2001). "Congenital tethered spinal cord syndrome in adults" . ... "Management of Recurrent Adult Tethered Cord Syndrome". Neurosurgical Focus . 29 (1): E5. doi : 10.3171/2010.3.FOCUS1073 .MTHFR, PAX3, PDGFRA, VANGL2, PCMT1, CFL1, PON1, CHKA, CCL2, TXN2, PCYT1A, FGFR2, RNF2, SUZ12, MTRR, MTR, MTHFD1, BRCA1, SLC25A1, PTCH1, DLL4, FLI1, FANCL, RFWD3, FANCI, TRIM36, FANCC, SUFU, PSAT1, UBE2T, PHGDH, FANCF, HAAO, MEOX1, PTCH2, MAD2L2, LMX1B, RBM8A, BMS1, KIF22, FANCG, GDF3, FANCB, CREBBP, BRIP1, BRCA2, RAD51C, SLX4, RAD51, PALB2, FANCE, RMRP, PORCN, XRCC2, GDF6, SLC25A19, FANCM, ERCC4, FANCA, FANCD2, ZIC2, DHFR, GRHL3, FUZ, BHMT, CELSR1, TYMS, PTK7, CBS, NOS3, LEPR, NAT1, PAX1, PRCP, SLC19A1, TIMP2, CYP26A1, GRHL2, CBSL, AFP, PGPEP1, FOLR1, FOLR2, SCRIB, COMT, BMP1, ZIC1, VSIR, PKD2L1, VANGL1, ANKEF1, CD200R1, PRICKLE2, UCP2, PCSK9, TP53, SLC5A11, SLC39A4, CCDC88A, ALDH1A2, ISYNA1, TGIF1, TRIM26, FZD3, FKBP8, BHMT2, GPR161, CUBN, DVL1P1, FOXN1, ALDH1L1, MTHFD2, TNIP1, NKX2-8, NNMT, TGFB1, SOX3, GCKR, FOSB, FOS, FOLH1, FLT4, GPC5, FGF3, FAP, ERCC2, EPHA4, DVL3, DVL1, DPP4, TRDMT1, SARDH, CSF2, CRABP2, ABCC2, CD38, CASP8, CASP3, BMP4, BDNF, ARSA, APOE, APOB, APEX1, APAF1, ABO, GLI2, GNAS, UTS2R, LAMC2, SLC2A1, SKI, RFC1, PRKCB, PRKCA, NAT2, NGF, MS, CD200, MMP2, LRP6, LMNB1, LEP, JUND, HK1, JUNB, JUN, JARID2, ITPK1, IL18, IL13, IL10, HOXD@, HOXC@, HOXB@, HOXA@, HMOX1, HLA-DRB4, RN7SL263P
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Lipoyltransferase 1 Deficiency
Omim
Overall PDHC activity was decreased compared to controls, but partial reactions catalyzed by the E1 (PDHA1, 300502 and PDHB, 179060) and E3 (DLD; 238331) subunits were normal; E2 (DLAT; 608770) activity was not measured, but sequence analysis of DLAT was normal. ... Immunoblot analysis of patient fibroblasts showed absence of the LIPT1 protein and absence of the expected lipoylated E2 proteins of KGDH, PDHC, and BCKDH. ... Immunostaining analysis of patient cells showed decreased levels of lipoylated E2-PDH and E2-KGDH. There was normal lipoylation of the H protein (GCSH; 238330) of the glycine cleavage system (GCS) and normal activity of the GCS, suggesting that the LIPT1 mutations caused a defect of lipoic acid transfer to particular proteins rather than a general impairment of lipoic acid biosynthesis.
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Hellp Syndrome
Wikipedia
Obstet Gynecol . 103 (5 Pt 1): 981–91. doi : 10.1097/01.AOG.0000126245.35811.2a . ... PMID 14988839 . ^ Rinehart BK, Terrone DA, Magann EF, Martin RW, May WL, Martin JN Jr (March 1996). ... Br J Obstet Gynaecol . 104 (8): 877–91. doi : 10.1111/j.1471-0528.1997.tb14346.x . ... PMID 7661469 . ^ Martin JN Jr, Rinehart BK, May WL, Magann EF, Terrone DA, Blake PG (June 1999). ... "Intravascular hemolysis, thrombocytopenia and other hematologic abnormalities associated with severe toxemia of pregnancy". N Engl J Med . 250 (3): 89–98. doi : 10.1056/NEJM195401212500301 .CD46, CFH, CFI, HELLPAR, FASLG, FAS, PGF, F5, LEP, HADHA, F2, TNF, HPGDS, LGALS13, FLT1, VEGFA, MTHFR, MAPK14, TLR4, AIMP2, TLR2, MAPK3, TPBG, VEGFC, TGFB3, VWF, MAPK1, ABCG2, TFPI2, IL18R1, GRAP2, EBI3, AHSA1, ADAMTS13, SIRT4, RNF19A, POLDIP2, SLC17A5, ERVW-1, MBL3P, AHSP, NOD2, POTEF, SERPINE2, ACTB, SERPINE1, PAH, APC, CFB, CA9, CD40LG, CD59, CDKN1C, COX8A, CP, CRK, ENG, EPHX1, GAPDH, GNB3, GPT, NR3C1, GSTM1, GSTT1, HSPA4, HSPG2, IFNG, IL1B, IL1RN, CXCL8, IL10, LEPR, LNPEP, ADM, NOS3, PAEP, MBL2
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Scapular Fracture
Wikipedia
The most commonly injured areas are the scapular body, spine, neck, and glenoid rim; the scapular body or neck is injured in about 80% of cases. Fractures that occur in the body may be vertical, horizontal, or comminuted (involving multiple fragments). ... Lateral view of the left scapula Diagnosis [ edit ] X-ray showing a fracture of the clavicula and scapula Most fractures of the scapula can be seen on a chest X-ray ; however, they may be missed during examination of the film. [1] Serious associated injuries may distract from the scapular injury, [4] and diagnosis is often delayed. [3] Computed tomography may also be used. [1] Scapular fractures can be detected in the standard chest and shoulder radiographs that are given to patients who have suffered significant physical trauma , but much of the scapula is hidden by the ribs on standard chest X-rays . [4] Therefore, if scapular injury is suspected, more specific images of the scapular area can be taken. [4] Classification [ edit ] Body fractures [ edit ] Described based upon anatomic location Neck fractures [ edit ] Coracoid process fractures [ edit ] Type Description I Fracture proximal to the coracoclavicular ligament II Fracture distal to the coracoclavicular ligament Acromion fractures [ edit ] Type Description I Non- or minimally-displaced II Displaced but not affecting the subacromial space III Displacement compromising the subacromial space Glenoid fossa fractures [ edit ] Described by the Ideberg classification Treatment [ edit ] Treatment involves pain medication and immobilization at first; later, physical therapy is used. [1] Ice over the affected area may increase comfort. [6] Movement exercises are begun within at least a week of the injury; with these, fractures with little or no displacement heal without problems. [6] Over 90% of scapular fractures are not significantly displaced; therefore, most of these fractures are best managed without surgery. [3] Fractures of the scapular body with displacement may heal with malunion, but even this may not interfere with movement of the affected shoulder. [6] However, displaced fractures in the scapular processes or in the glenoid do interfere with movement in the affected shoulder if they are not realigned properly. [6] Therefore, while most scapular fractures are managed without surgery, surgical reduction is required for fractures in the neck or glenoid; otherwise motion of the shoulder may be impaired. [7] Epidemiology [ edit ] Scapular fracture is present in about 1% of cases of blunt trauma [1] and 3–5% of shoulder injuries. [4] An estimated 0.4–1% of bone fractures are scapular fractures. [2] The injury is associated with other injuries 80–90% of the time. [1] Scapular fracture is associated with pulmonary contusion more than 50% of the time. [8] Thus when the scapula is fractured, other injuries such as abdominal and chest trauma are automatically suspected. [1] People with scapular fractures often also have injuries of the ribs, lung, and shoulder. [4] Pneumothorax (an accumulation of air in the space outside the lung ), clavicle fractures , and injuries to the blood vessels are among the most commonly associated injuries. [4] The forces involved in scapular fracture can also cause tracheobronchial rupture , a tear in the airways. [9] Fractures that occur in the scapular body are the type most likely to be accompanied by other injuries; other bony and soft tissue injuries accompany these fractures 80–95% of the time. [3] Associated injuries can be serious and potentially deadly, [3] and usually it is the associated injuries, rather than the scapular fracture, that have the greatest effect on the outcome. [4] Scapular fractures can also occur by themselves; when they do, the death rate ( mortality ) is not significantly increased. [4] The mean age of people affected is 35–45 years. [2] Notes [ edit ] ^ a b c d e f g h Livingston DH, Hauser CJ (2003). ... ISBN 0-07-137069-2 . ^ a b c d e Wiedemann et al. (2000) pp. 504–507 ^ a b c d e f g Goss TP, Owens BD (2006). "Fractures of the scapula: Diagnosis and treatment". ... Baillière's Clinical Anaesthesiology . 10 (1): 123–153. doi : 10.1016/S0950-3501(96)80009-2 . References [ edit ] Wiedemann E, Euler E, Pfeifer K (2000).