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Hoffa Fracture Wikipedia

(A) right knee; (B) left knee. [1] A Hoffa fracture is an intra-articular supracondylar distal femoral fracture, characterized by a fracture in the coronal plane . [1] It is named for Albert Hoffa . [1] References [ edit ] ^ a b c Koné, S.; Bana, A.; Touré, SA.; Koné, S.; Allou, AS.; Kouassi, AN.; Koffi, AG.; Kouamé, IM. (2015).
Envenomation Wikipedia

PMID 24777205 . ^ GRAUDINS, A., M. J. LITTLE, S. S. PINEDA, P. G. HAINS, G. F. KING et al., 2012 Cloning and activity of a novel α-latrotoxin from red-back spider venom.
Nonthrombocytopenic Purpura Wikipedia

Retrieved 2009-01-06 . ^ Cotran, Ramzi S.; Kumar, Vinay; Fausto, Nelson; Nelso Fausto; Robbins, Stanley L.; Abbas, Abul K. (2005). ... External links [ edit ] Classification D ICD - 9-CM : 287.2 v t e Disorders of bleeding and clotting Coagulation · coagulopathy · Bleeding diathesis Clotting By cause Clotting factors Antithrombin III deficiency Protein C deficiency Activated protein C resistance Protein S deficiency Factor V Leiden Prothrombin G20210A Platelets Sticky platelet syndrome Thrombocytosis Essential thrombocythaemia DIC Purpura fulminans Antiphospholipid syndrome Clots Thrombophilia Thrombus Thrombosis Virchow's triad Trousseau sign of malignancy By site Deep vein thrombosis Bancroft's sign Homans sign Lisker's sign Louvel's sign Lowenberg's sign Peabody's sign Pratt's sign Rose's sign Pulmonary embolism Renal vein thrombosis Bleeding By cause Thrombocytopenia Thrombocytopenic purpura : ITP Evans syndrome TM TTP Upshaw–Schulman syndrome Heparin-induced thrombocytopenia May–Hegglin anomaly Platelet function adhesion Bernard–Soulier syndrome aggregation Glanzmann's thrombasthenia platelet storage pool deficiency Hermansky–Pudlak syndrome Gray platelet syndrome Clotting factor Haemophilia A/VIII B/IX C/XI von Willebrand disease Hypoprothrombinemia/II Factor VII deficiency Factor X deficiency Factor XII deficiency Factor XIII deficiency Dysfibrinogenemia Congenital afibrinogenemia Signs and symptoms Bleeding Bruise Haematoma Petechia Purpura Nonthrombocytopenic purpura By site head Epistaxis Haemoptysis Intracranial haemorrhage Hyphaema Subconjunctival haemorrhage torso Haemothorax Haemopericardium Pulmonary haematoma abdomen Gastrointestinal bleeding Haemobilia Haemoperitoneum Haematocele Haematosalpinx joint Haemarthrosis This cutaneous condition article is a stub .

C3, PLAU
Multicentric Carpotarsal Osteolysis Syndrome Wikipedia

JAMA 188:363–368 ^ Zankl A, Duncan EL, Leo PJ, Clark GR, Glazov EA, Addor M-C, Herlin T, Kim CA, Leheup BP, McGill J, McTaggart S, Mittas S, Mitchell, AL, Mortier GR, Robertson SP, Schroeder M, Terhal P, Brown MA (2012) Multicentric carpotarsal osteolysis is caused by mutations clustering in the amino-terminal transcriptional activation domain of MAFB.

MAFB
- Multicentric Carpotarsal Osteolysis Syndrome GARD
  
  Multicentric carpotarsal osteolysis syndrome is a very rare condition characterized by progressive loss of some of the bones of the hand and feet, usually the carpal (bones of the wrist) and tarsal bones (bones of the ankle), as well as chronic kidney (renal) failure in many cases. The bone problems lead to deformity and disability. Some patients also have intellectual disability and facial abnormalities. It is caused by mutations in the MAFB gene. Autosomal dominant inheritance has been described in many families but most cases are sporadic . Treatment is with long-term immunosuppressive therapy .
- Multicentric Carpotarsal Osteolysis Syndrome OMIM
  
  A number sign (#) is used with this entry because of evidence that multicentric carpotarsal osteolysis syndrome (MCTO) is caused by heterozygous mutation in the MAFB gene (608968) on chromosome 20q12. Description Multicentric carpotarsal osteolysis syndrome is a rare skeletal disorder, usually presenting in early childhood with a clinical picture mimicking juvenile rheumatoid arthritis. Progressive destruction of the carpal and tarsal bone usually occurs and other bones may also be involved. Chronic renal failure is a frequent component of the syndrome. Mental retardation and minor facial anomalies have been noted in some patients. Autosomal dominant inheritance has been documented in many families (Pai and Macpherson, 1988).
- Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy Orphanet
  
  Idiopathic multicentric osteolysis is a very rare syndrome characterized by progressive loss of bone, usually the capsal and tarsal bones, resulting in deformity and disability, as well as chronic renal failure in many cases. The bone and renal disorders are sometimes associated with intellectual deficit and facial abnormalities.
Neuroleptic-Induced Deficit Syndrome Wikipedia

J Clin Psychiatry . 54 : 493–500. PMID 7903967 . ^ a b c d Ueda S, Sakayori T, Omori A, Fukuta H, Kobayashi T, Ishizaka K, et al. (2016). ... PMID 8866773 . ^ a b c Machida N, Shiotsuka S, Semba J (2005). 強迫性障害と抗精神病薬による欠陥症候群(NIDS)の合併例に抗精神病薬中止とSSRIが奏効した一例 [Case of obsessive-compulsive disorder associated with neuroleptics-induced deficit syndrome (NIDS): successfully treated by discontinuation of neuroleptics followed by SSRI.].
Traumatic Pneumorrhachis Wikipedia

.; Wiener, M. D.; Vogler, J. B.; Martinez, S. (1987). "Traumatic pneumorrhachis". ... The Journal of Trauma . 58 (4): 875–9. doi : 10.1097/01.ta.0000158249.77176.9a . PMID 15824674 . ^ Anjankar, S.; Subodh, R. (2014). "Traumatic pneumorrhachis" .
Terry's Nails Wikipedia

. ^ Stulberg, Daniel L.; Linford, Sean; Fawcett, Robert S. (2004-03-15). "Nail Abnormalities: Clues to Systemic Disease - March 15, 2004" . ... ISBN 978-1-4160-2999-1 . ^ a b Nia, AM; Ederer, S; Dahlem, KM; Gassanov, N; Er, F (July 2011).
Chromosome Instability Syndrome Wikipedia

PMC 4259971 . PMID 25480036 . ^ Desai S, Wood-Trageser M, Matic J, Chipkin J, Jiang H, Bachelot A, Dulon J, Sala C, Barbieri C, Cocca M, Toniolo D, Touraine P, Witchel S, Rajkovic A (February 2017).

WRN, PNKP, ATR, BLM, MEN1, TP53
Smoldering Systemic Mastocytosis Orphanet

This mutation probably accounts for the abnormal accumulation of MCs in organ(s)/tissue(s). Multilineage KIT D816V involvement is constantly found in SSM patients.

KIT, IFNG, IL1B, VIP
Charcot-Marie-Tooth Disease, Axonal, Type 2b1 OMIM

On the basis of electrophysiologic criteria, CMT is divided into 2 major types: type 1, the demyelinating form, characterized by a motor median nerve conduction velocity less than 38 m/s (see CMT1B; 118200); and type 2, the axonal form, with a normal or slightly reduced nerve conduction velocity. ... INHERITANCE - Autosomal recessive SKELETAL Spine - Kyphoscoliosis may be present Feet - Pes cavus - Foot deformities NEUROLOGIC Peripheral Nervous System - Distal limb muscle weakness due to peripheral neuropathy - Distal limb muscle atrophy due to peripheral neuropathy - Proximal muscle involvement may occur - 'Steppage' gait - Foot drop - Distal sensory impairment - Hyporeflexia - Areflexia - Normal or mildly decreased motor nerve conduction velocity (NCV) (greater than 38 m/s) - Axonal atrophy on nerve biopsy - Axonal degeneration/regeneration on nerve biopsy - Small 'onion bulbs' may be present - Decreased number of myelinated fibers may be found MISCELLANEOUS - Onset in second decade - Usually begins in feet and legs (peroneal distribution) - Upper limb involvement may occur later - Severe course - Genetic heterogeneity (see CMT2B2, 605589 ) - For autosomal dominant forms of axonal neuropathy, see CMT2A ( 118210 ) MOLECULAR BASIS - Caused by mutation in the lamin A/C gene (LMNA, 150330.0020 ) ▲ Close

LMNA, NEFL, MED25
- Charcot-Marie-Tooth Disease Type 2b1 Orphanet
  
  Charcot-Marie-Tooth disease, type 2B1 (CMT2B1, also referred to as CMT4C1) is an axonal CMT peripheral sensorimotor polyneuropathy. Epidemiology It has been described exclusively in families originating from North-Western Africa (northwest Algeria and the east of Morocco). Clinical description Onset occurs in the second decade of life. The disease course and severity are variable, even between affected members of the same family. In general, the disease manifests as distal muscle weakness and atrophy that progress gradually to the proximal muscles. Involvement of the upper and lower limbs has been reported. Sensory impairment may also be present but foot deformities are either moderate or absent.
Cryptomnesia Wikipedia

Yet it can sometimes be shown convincingly that what he has written bears a striking similarity to the work of another author — a work that he believes he has never seen." Jorge Luis Borges 's story, " Pierre Menard, Author of the Quixote ," is a meta-fictive enactment of cryptomnesia. ... Cases [ edit ] Nietzsche [ edit ] Jung gives the following example in Man and His Symbols . [18] Friedrich Nietzsche 's book Thus Spoke Zarathustra includes an almost word for word account of an incident also included in a book published about 1835, half a century before Nietzsche wrote. ... Josef Popper-Lynkeus and the theory of dreams . SE 19. pp. 259–263. ^ Brown, A. S., & Murphy, D. R. (1989). Cryptomnesia: Delineating inadvertent plagiarism. ... American Psychologist, 38, 239–244. ^ Brown, A. S., & Halliday, H. E. (1991). Cryptomnesia and source memory difficulties. American Journal of Psychology, 104, 475–490. ^ Bredart, S., Lampinen., J. M., & Defeldre, A. (2003) Phenomenal characteristics of cryptomnesia.
Uveal Melanoma Wikipedia

PMID 17295241 . ^ Damato B; Coupland S (2008). "Ocular melanoma" . Melanoma Molecular Map Project . ... PMID 21083380 . ^ Onken MD, Worley LA, Long MD, Duan S, Council ML, Bowcock AM, Harbour JW (2008). ... PMID 18719078 . ^ a b Harbour JW, Onken MD, Roberson ED, Duan S, Cao L, Worley LA, Council ML, Matatall KA, Helms C, Bowcock AM (2010). ... PMID 15492234 . ^ Petrausch U, Martus P, Tönnies H, Bechrakis NE, Lenze D, Wansel S, Hummel M, Bornfeld N, Thiel E, Foerster MH, Keilholz U (2008). ... Retrieved 30 March 2012 . ^ Kaliki S, Shields CL (2017). "Uveal melanoma: relatively rare but deadly cancer" .

GNA11, BAP1, GNAQ, SF3B1, CYSLTR2, PLCB4, EIF1AX, JMJD6, GRM1, CLPTM1L, TDP1, LRP1B, OCA2, TP53, CDKN2A, MAP2K7, BRAF, STAP1, CACNA2D1, VEGFA, OCM, RASSF1, AKT1, YAP1, HIF1A, CD274, CTLA4, TYR, PRAME, H3P10, ACKR3, PIK3CG, PIK3CA, PIK3CB, PIK3CD, CXCR4, CXCR6, LPAR2, ADRA1A, ADRA2B, KIT, MET, EDNRA, ATN1, SSTR4, BRS3, PTP4A3, IGF1, MAPK3, BCL2, GPR42, TNF, HSPB1, HSPB2, IL6, NME1, HTR2B, PTEN, PVT1, EGF, CD47, BRCA2, PERP, HSPB3, CDK4, PROM1, GPR151, COASY, PRRT2, MRGPRX3, PRKCB, PRKCA, MRGPRX4, RASEF, CCL2, OXER1, GPRC6A, MRGPRX1, PDCD1, RTL1, ANXA2R, NRAS, VN1R17P, GPR166P, RPE65, LGR6, CXCL12, TNFSF10, TP63, FZD4, MBD4, CD163, UVRAG, GDF15, EFS, CDC42EP3, SMR3B, CKAP4, TIMP3, LPAR3, RASGRP3, SSTR2, SST, SETD2, SPP1, SOX10, SRSF2, MC1R, TERT, FGF2, GNRH1, CXCL8, HTC2, CXCL10, CD68, HSP90AA1, BRCA1, MLANA, PARP1, EGFR, FOXO3, CCR7, IFNG, COL11A2, IDH1, CD80, KIF15, NLRP2, BTNL2, DDX43, LGR4, MUC13, SULF2, KISS1, CCK, RUNX1, PRX, FBXW7, CAV1, SIL1, SPANXD, SPANXC, BRD9, ZBTB10, DLK2, RHPN1-AS1, TRPM8, CHAC1, ABTB1, ANKRD36B, CD44, ZNF654, SEC14L2, PRDX3, RAB31, CD160, PSIP1, CCR6, PHB2, TBC1D9, CDKN2B, DICER1, CDKN1B, BRD4, RPL13A, CDKN1A, CDK9, PHF10, CDK7, CDK2, B3GAT1, TMEM97, CDC25B, NXT1, RBM15B, RMC1, SPANXA1, FOXP3, ANGPTL4, ADA2, CCND1, BMP7, MAGT1, LBH, MIR145, MIR155, MIR17, MIR182, MIR20A, MIR216A, MIR224, MIR27A, MIR34A, MIR34B, ALPI, ALCAM, XRCC6P5, MIR367, WG, JPX, MIR506, POU5F1P3, POU5F1P4, MIR652, SPANXA2, MIR454, MIR873, FTX, MICA, CENPS-CORT, PAUPAR, LOC110806263, H3P9, H3P42, MIR146A, MIR144, ARHGAP24, MIR143, SESN2, COX8A, DNER, BAX, AHNAK2, ADPRHL1, MIR155HG, RHPN1, KCTD12, BAD, B2M, CANT1, ATM, RSS, BTNL9, CNKSR3, ARF6, XIAP, HOXA11-AS, APC, ANGPT2, CENPS, ANGPT1, ALPP, CASC15, MIRLET7B, MIR134, MIR137, MIR142, SUB1, MRPL28, USP19, RNF2, PMS2, POU5F1, IFNA13, PRKDC, IFNA1, LGMN, ICAM1, IAPP, RAD51, RARB, REL, RELB, RET, RPS19, IGF1R, S100A2, SCN10A, HSPG2, CCL22, SDCBP, SDHD, HLA-G, SKP2, SLC2A1, SNAI2, SMS, SOS1, HLA-A, PLG, CCN1, HK2, NF1, KTN1, LEP, ITGB2, MCAM, MDM2, RAB8A, ITGAL, MGMT, CIITA, MLH1, MMP2, MYC, NBN, NFKB1, IL1A, NFKB2, NGF, IDO1, NTRK2, P2RX7, PEBP1, PAK1, PCNA, IL2, SERPINF1, ABCB1, IL1RN, IL1B, SPARC, HIC1, CYSLTR1, HDAC9, SQSTM1, NAE1, F3, EZH2, LATS1, ATG12, ERBB2, MAGI1, COX5A, LIPG, ABCG2, ATG5, EDNRB, HDAC4, TNFRSF10C, GAB2, AKT3, EIF1, CTDSPL, GDF11, DPYSL2, WARS2, DES, CIB1, JAG2, CTNNB1, CPOX, NES, FABP3, TNFRSF10D, SSTR1, TPI1, GTF2H4, GRN, SSTR5, STAT3, ADAM17, TAZ, ZEB1, ADAM10, TFPI, THBS2, GNA12, GLI1, TP73, TRIO, FANCD2, GFAP, FTH1P3, MTOR, VIM, TRPV1, WARS1, XIST, SEM1, MIA, BRAP, FKBP4, LOH19CR1, IKBKG, ACTB
- Intraocular Melanoma GARD
  
  Intraocular melanoma is a cancer of the pigment-producing cells (melanocytes) in the middle layer of the eye, called the uveal tract . The uveal tract has 3 main parts: (1) the choroid (the tissue layer filled with blood vessels); (2) the ciliary body (the ring of muscle tissue that changes the size of the pupil and the shape of the lens); and (3) the iris (the colored part of the eye). Most cases (90%) of intraocular melanoma develop in the choroid, called choroidal melanoma; the ciliary body is less commonly a site of origin, and the iris is the least common. Each manifests with different clinical features and symptoms. Treatment depends on the site of origin (choroid, ciliary body, or iris), size and location of the tumor, the age of the individual, and other factors.
- Uveal Melanoma Orphanet
  
  Uveal melanoma is a rare tumor of the eye, arising from the choroid in 90% of cases and from the iris and ciliary body in the other 10% of cases, which clinically presents with visual symptoms (including blurred vision, photopsia, floaters, and visual field reduction), a visible mass and pain. Fatal metastatic disease is seen in about half of all patients, with the liver being the most frequent site of metastasis.
Dejerine–roussy Syndrome Wikipedia

CS1 maint: multiple names: authors list ( link ) ^ a b Quiton, R. L., Masri, R., Thompson S. M., Keller, A.; Masri; Thompson; Keller (2010). ... F., Taira, T., Ochiai, T., Nakaya, K., Tamura, N., Goto, S., Yomo, S., Kouyama, N., Katayama, Y. ... National Organization for Rare Disorders . 2003. ^ Auer-Grumbach, M., Strasser-Fuchs, S., Wagner, K., Korner, E., Fazekas, F.; Strasser-Fuchs; Wagner; Körner; Fazekas (1998). ... CS1 maint: multiple names: authors list ( link ) ^ Haubrich, C., Krings, T., Senderek, J., Zuchner, S., Schroder, J. M., Noth, J., Topper, R.; Krings; Senderek; Züchner; Schröder; Noth; Töpper (2002). ... CS1 maint: multiple names: authors list ( link ) ^ Zubair, S., Holland, N. R., Beson, B., Parke, J.
Yunis–varon Syndrome Wikipedia

S2CID 21944556 . ^ a b Christie J, Sacks S, Decorato D, Bergasa NV (September 1999). ... PMID 21655088 . ^ Chow, Clement Y.; Landers, John E.; Bergren, Sarah K.; Sapp, Peter C.; Grant, Adrienne E.; Jones, Julie M.; Everett, Lesley; Lenk, Guy M.; McKenna-Yasek, Diane M.; Weisman, Lois S.; Figlewicz, Denise (January 2009). ... PMC 2271033 . PMID 17572665 . ^ Sharma S, Carmona A, Skowronek A, Yu F, Collins MO, Naik S, et al. ... PMC 3711465 . PMID 22131434 . ^ Baulac S, Lenk GM, Dufresnois B, Ouled Amar Bencheikh B, Couarch P, Renard J, et al. ... European Journal of Medical Genetics . 54 (1): 76–81. doi : 10.1016/j.ejmg.2010.09.013 . PMID 20932945 . ^ a b Bhatia S, Holla RG (April 2005). "Yunis-Varon syndrome" (PDF) .

FIG4, VAC14, MCOLN1
- Yunis-Varon Syndrome GARD
  
  Yunis-Varon syndrome is a rare condition that affects many different parts of the body. Signs and symptoms are generally present from birth and may include underdeveloped or absent collarbones (clavicles); large fontanelles ; characteristic facial features; hypotonia (reduced muscle tone) and/or abnormalities of the fingers and toes. Affected people may also experience feeding difficulties, breathing problems, brain malformations, heart defects , skeletal abnormalities, developmental delay, and/or intellectual disability. Yunis-Varon syndrome is caused by changes (mutations) in the FIG4 gene and is inherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person.
- Yunis-Varon Syndrome OMIM
  
  A number sign (#) is used with this entry because Yunis-Varon syndrome (YVS) is caused by homozygous or compound heterozygous mutation in the FIG4 gene (609390) on chromosome 6q21. Description Yunis-Varon syndrome is a severe autosomal recessive disorder characterized by skeletal defects, including cleidocranial dysplasia and digital anomalies, and severe neurologic involvement with neuronal loss. Enlarged cytoplasmic vacuoles are found in neurons, muscle, and cartilage. The disorder is usually lethal in infancy (summary by Campeau et al., 2013). Clinical Features Yunis and Varon (1980) described 5 children in 3 families with cleidocranial dysplasia (absent clavicles, macrocrania, diastasis of sutures), micrognathia, absent thumbs and distal phalanges of fingers, hypoplasia of proximal phalanx and absence of distal phalanx of the big toes, pelvic dysplasia, bilateral hip dislocation, and retracted and poorly delineated lips.
- Yunis-Varon Syndrome Orphanet
  
  A rare, genetic, multiple congenital malformation syndrome, characterized by cleidocranial dysplasia (wide fontanelles, calvaria dysostosis, absent or hypoplastic clavicles), absent thumbs and halluces, hypoplastic distal and medial phalanges of fingers, pelvic dysplasia with hip dislocations. Dysmorphic features include sparse scalp hair, protruding eyes, low-set ears, anteverted nares, midfacial hypoplasia, tented upper lip, high arched palate, and micrognathia. Brain malformations are frequently associated. From birth, affected individuals tend to be significantly hypotonic and present with global developmental delay, and respiratory, feeding and swallowing difficulties.
Neuroleptic Malignant Syndrome Wikipedia

PMID 22952071 . ^ Mihara K, Kondo T, Suzuki A, Yasui-Furukori N, Ono S, Sano A, Koshiro K, Otani K, Kaneko S (2003). ... PMID 19149529 . ^ a b "UpToDate" . www.uptodate.com . ^ a b Ananth J, Parameswaran S, Gunatilake S, Burgoyne K, Sidhom T (2004). ... PMC 155963 . PMID 12771076 . ^ Dhib-Jalbut S, Hesselbrock R, Mouradian MM, Means ED (1987). ... PMID 9735957 . ^ Hernández JL, Palacios-Araus L, Echevarría S, Herrán A, Campo JF, Riancho JA (1997). ... PMID 12151905 . S2CID 29010904 . ^ Hasan S, Buckley P (1998). "Novel antipsychotics and the neuroleptic malignant syndrome: a review and critique".

CYP2D6, DRD2, RYR1, ECT, CPT2, GCH1, HTR1A, HTR2A, PIK3C2A, RENBP, TAF1, DPM2, KCNE3, LRRK2, ANKK1, LOC107987479
- Neuroleptic Malignant Syndrome GARD
  
  Neuroleptic malignant syndrome is a rare neurological condition that is caused by an adverse reaction to neuroleptic (tranquilizer) or antipsychotic drugs. These drugs are commonly prescribed for the treatment of schizophrenia and other neurological, mental, or emotional disorders. Affected people may experience high fever, muscle stiffness, sweating, unstable blood pressure, altered mental status, and autonomic dysfunction . In most cases, the condition develops within the first 2 weeks of treatment with the drug; however, it may develop any time during the therapy period. The exact underlying cause of neuroleptic malignant syndrome is unknown.
- Neuroleptic Malignant Syndrome Orphanet
  
  A rare neuropsychiatric syndrome associated with administration of antipsychotic or other central dopamine (D2) receptor antagonists, and characterized by hyperthermia, muscular rigidity, autonomic dysfunction and altered consciousness. Epidemiology Neuroleptic malignant syndrome (NMS) occurs in 1/5,000 to 10,000 patients treated with antipsychotics or other central dopamine (D2) receptor antagonists (all age groups; male:female ratio 2:1 in some studies; higher incidence rates have been reported in the past). The incidence may be lower with newer less potent antipsychotics and with reduced severity of symptoms, particularly for clozapine. Clinical description In about 16% of patients, the syndrome occurs within 24 hours after the initiation of the antipsychotic treatment, 66% within the first week, and less commonly within or after 30 days on stable medication regimens. Manifestations include hyperthermia, muscular rigidity and tremor, mental status alteration and autonomic dysfunction.
Immature Teratoma Wikipedia

. ^ Brammer, H. M.; Buck, J. L.; Hayes, W. S.; Sheth, S.; Tavassoli, F. A. (July 1990). ... American Cancer Society . ^ - Vaidya, SA; Kc, S; Sharma, P; Vaidya, S (2014). "Spectrum of ovarian tumors in a referral hospital in Nepal" . ... F.; Favara, B. E.; Major, F. J.; Silverberg, S. G. (November 1976). "Immature teratoma of the ovary with a neural component ("solid" teratoma). ... ISSN 0029-7844 . PMID 3763073 . ^ a b Williams, S.; Blessing, J. A.; Liao, S. Y.; Ball, H.; Hanjani, P. ... PMID 7512129 . ^ Slayton, R. E.; Park, R. C.; Silverberg, S. G.; Shingleton, H.; Creasman, W.
Balo Concentric Sclerosis Wikipedia

., Campbell G., Lax N., White K., Hanson P. S., Lassmann H., Turnbull D. M. (2009). ... PMID 21459811 . S2CID 24127230 . ^ a b Jarius S, Würthwein C, Behrens JR, Wanner J, Haas J, Paul F, Wildemann B (2018). ... "[A case-report of Balo concentric sclerosis transformed into definite multiple sclerosis]" . Zh Nevrol Psikhiatr Im S S Korsakova . 118 (8): 103–106. doi : 10.17116/jnevro2018118082103 . ... PMID 24423690 . S2CID 29304147 . ^ Lindquist S (2007). "Histopathology and serial, multimodal magnetic resonance imaging in a multiple sclerosis variant". ... CS1 maint: multiple names: authors list ( link ) ^ Jarius S, Würthwein C, Behrens JR, Wanner J, Haas J, Paul F, Wildemann B (2018).

POLG, PARS2, RLBP1, FANCI, EDAR, AHSG, ABL2, NARS2, TWNK, DARS2, FARS2, SOD1, SNCB, SMN2, SMN1, PRNP, NPTX2, MPV17, IGFALS, HTC2, HTT, TYMP, DGUOK, CTSC, CARS1, RERE, FAS, OSR1
- Alpers-Huttenlocher Syndrome Orphanet
  
  A cerebrohepatopathy and a rare and severe form of mitochondrial DNA (mtDNA) depletion syndrome characterized by the triad of progressive developmental regression, intractable seizures, and hepatic failure. Epidemiology The incidence of AHS is estimated to be between 1/100,000 and 1/250,000. Clinical description Development is usually normal until disease onset and presentations are highly variable. The most common age of onset is between 2-4 years (ranges from 3 months to 36 years). Seizures (mainly partial, secondary generalized tonic-clonic, or myoclonic) are often the presenting feature, evolving into focal status epilepticus, epilepsia partialis continua, and/or multifocal myoclonic epilepsy.
- Alpers-Huttenlocher Syndrome MedlinePlus
  
  Alpers-Huttenlocher syndrome is one of the most severe of a group of conditions called the POLG -related disorders. The conditions in this group feature a range of similar signs and symptoms involving muscle-, nerve-, and brain-related functions. Alpers-Huttenlocher syndrome typically becomes apparent in children between ages 2 and 4. People with this condition usually have three characteristic features: recurrent seizures that do not improve with treatment (intractable epilepsy), loss of mental and movement abilities (psychomotor regression), and liver disease. People with Alpers-Huttenlocher syndrome usually have additional signs and symptoms.
- Mitochondrial Dna Depletion Syndrome 4a (Alpers Type) OMIM
  
  A number sign (#) is used with this entry because mitochondrial DNA (mtDNA) depletion syndrome-4A (MTDPS4A), which manifests as Alpers syndrome, is caused by homozygous or compound heterozygous mutation in the nuclear gene encoding mitochondrial DNA polymerase gamma (POLG; 174763) on chromosome 15q26. Description Mitochondrial DNA depletion syndrome-4A, also known as Alpers syndrome, is an autosomal recessive disorder characterized by a clinical triad of psychomotor retardation, intractable epilepsy, and liver failure in infants and young children. Pathologic findings include neuronal loss in the cerebral gray matter with reactive astrocytosis and liver cirrhosis. The disorder is progressive and often leads to death from hepatic failure or status epilepticus before age 3 years (review by Milone and Massie, 2010). Some affected individuals may show mild intermittent 3-methylglutaconic aciduria and defects in mitochondrial oxidative phosphorylation (Wortmann et al., 2009).
- Alpers Syndrome GARD
  
  Alpers syndrome is a progressive neurologic disorder that begins during childhood and is complicated in many instances by serious liver disease. Symptoms include increased muscle tone with exaggerated reflexes (spasticity), seizures, and loss of cognitive ability (dementia). Most often Alpers syndrome is caused by mutations in the POLG gene.
In Situ Lymphoid Neoplasia Wikipedia

ISLN differs from MCL in that its B-cells are found mainly in lymphoid tissue, it involves different monoclonal B-cell types, and it usually progresses to a set of different types of lymphoid malignancies. [2] [6] [7] However, 1) MBL disorders can progress to FL or MCL, 2) small numbers of the B-cells involved in ISFN may circulate in individuals who have or will develop ISFN, [1] and 3) the B-cells in MBL may accumulate in lymphoid tissues. [7] Contents 1 Presentation 2 Pathophysiology 2.1 In situ follicular lymphoma 2.2 In situ mantle cell neoplasia 3 Diagnosis 3.1 ISFL 3.1.1 Differential diagnosis 3.2 ISMCL 3.2.1 Differential diagnosis 4 Treatment 5 References Presentation [ edit ] ISFL and ISMCL are generally asymptomatic disorders discovered in lymphoid tissues which were examined for other reasons. Typically, a follicle(s) in a superficial lymph node(s) is the site of these disorders. However, the follicles in deep lymph nodes the abdomen or of the tonsils, intestines, spleen, parotid gland , or thyroid may harbor the disorder in ISFL whereas a follicle(s) in the small intestine, appendix, ocular adnexa , nasopharynx , oropharynx , or spleen may harboring the disorder in ISMCL. ... "q") arm of chromosome 14 and position 21 on chromosome 18's q arm. This same t(14:18)q32:q21) translocation is a genetic hallmark of FL [2] and juxtaposes the B-cell lymphoma 2 ( BCL2 ) gene on chromosome 18 at position q21.33 with the immunoglobulin heavy chain locus ( IGH@ ) on chromosome 14 at position q21. ... The translocation is proposed to occur during the early development of immature bone marrow B-cells (i.e. pre-B-cells/pro-B-cells) after which these cells circulate freely and in rare cases accumulate in the germinal centers of lymphoid follicles to form ISFL. The mechanism(s) favoring this localization and accumulation is unclear. ... In situ lymphoid neoplasia patients who have or develop FL, MCL, or other lymphoid malignancy are treated for their malignancies. [5] References [ edit ] ^ a b c d e f g h i j k l m n o Oishi N, Montes-Moreno S, Feldman AL (January 2018). "In situ neoplasia in lymph node pathology".
Post-Chemotherapy Cognitive Impairment Wikipedia

Q J Nucl Med Mol Imaging . 56 (6): 559–568. PMID 23172518 . ^ a b Taillibert S, Voillery D, Bernard-Marty C (November 2007). ... Feb 23, 2010 [ archived 2011-12-11];7(4):6. ^ Grisold W, Oberndorfer S, Windebank AJ. Chemotherapy and polyneuropathies . ... PMID 17992096 . S2CID 25985136 . ^ Myers J. S., Pierce J., Pazdernik T. (2008). ... S2CID 15386152 . ^ Kovalchuk A, Rodriguez-Juarez R, Ilnytskyy Y, Byeon B, Shpyleva S, Melnyk S, Pogribny I, Kolb B, Kovalchuk O (April 2016). ... PMID 20831527 . ^ Khaw P. T., Sherwood M. B., MacKay S. L., Rossi M. J., Schultz G. (1992).
Neonatal Jaundice Wikipedia

Neonatal Network, 24(2), 7-19, 59-62 ^ Colletti, JE; Kothari, S; Kothori, S; Jackson, DM; Kilgore, KP; Barringer, K (November 2007). ... PMID 17148008 . ^ Shah, Z; Chawla, A; Patkar, D; Pungaonkar, S (March 2003). "MRI in kernicterus". ... PMID 16398972 . ^ Gómez, M; Bielza, C; Fernández del Pozo, JA; Ríos-Insua, S (2007). "A graphical decision-theoretic model for neonatal jaundice". ... Retrieved 14 June 2010 . ^ Leung, A. K.; Sauve, R. S. (1989-12-01). "Breastfeeding and breast milk jaundice". ... PMID 14228539 . ^ Murphy, J F; Hughes I; Verrier Jones ER; Gaskell S; Pike AW (1981). "Pregnanediols and breast-milk jaundice" .

NR1I2, G6PD, UGT1A1, UGT1A, GSTM1, GSTK1, NR1I3, SLCO1B1, GGTLC1, SLCO6A1, ABO, SMIM10L2B, GGTLC5P, GGTLC3, GGT2, GGTLC4P, SMIM10L2A, SPTA1, SLC35A2, ACP1, PRL, OSM, NPC1, HMOX1, HK1, GSTT1, GPI, GCLC, GGT1, GALT, BTD, ADA, LOC102724197
- Infant Jaundice Mayo Clinic
  
  Overview Infant jaundice is yellow discoloration of a newborn baby's skin and eyes. Infant jaundice occurs because the baby's blood contains an excess of bilirubin (bil-ih-ROO-bin), a yellow pigment of red blood cells. Infant jaundice is a common condition, particularly in babies born before 38 weeks' gestation (preterm babies) and some breast-fed babies. Infant jaundice usually occurs because a baby's liver isn't mature enough to get rid of bilirubin in the bloodstream. In some babies, an underlying disease may cause infant jaundice. Most infants born between 35 weeks' gestation and full term need no treatment for jaundice.