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Thallium Poisoning
Wikipedia
The Guardian . reports. 9 February 2008. v t e Poisoning Toxicity Overdose History of poison Inorganic Metals Toxic metals Beryllium Cadmium Lead Mercury Nickel Silver Thallium Tin Dietary minerals Chromium Cobalt Copper Iron Manganese Zinc Metalloids Arsenic Nonmetals Sulfuric acid Selenium Chlorine Fluoride Organic Phosphorus Pesticides Aluminium phosphide Organophosphates Nitrogen Cyanide Nicotine Nitrogen dioxide poisoning CHO alcohol Ethanol Ethylene glycol Methanol Carbon monoxide Oxygen Toluene Pharmaceutical Drug overdoses Nervous Anticholinesterase Aspirin Barbiturates Benzodiazepines Cocaine Lithium Opioids Paracetamol Tricyclic antidepressants Cardiovascular Digoxin Dipyridamole Vitamin poisoning Vitamin A Vitamin D Vitamin E Megavitamin-B 6 syndrome Biological 1 Fish / seafood Ciguatera Haff disease Ichthyoallyeinotoxism Scombroid Shellfish poisoning Amnesic Diarrhetic Neurotoxic Paralytic Other vertebrates amphibian venom Batrachotoxin Bombesin Bufotenin Physalaemin birds / quail Coturnism snake venom Alpha-Bungarotoxin Ancrod Batroxobin Arthropods Arthropod bites and stings bee sting / bee venom Apamin Melittin scorpion venom Charybdotoxin spider venom Latrotoxin / Latrodectism Loxoscelism tick paralysis Plants / fungi Cinchonism Ergotism Lathyrism Locoism Mushrooms Strychnine 1 including venoms , toxins , foodborne illnesses .
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Selective Mutism
Wikipedia
External links [ edit ] Classification D ICD - 10 : F94.0 ICD - 9-CM : 309.83 313.23 MeSH : D009155 SNOMED CT : 71959007 External resources eMedicine : ped/2660 v t e Emotional and behavioral disorders Emotional/behavioral ADHD Conduct disorder Oppositional defiant disorder Emotional/behavioral disorder (EBD) Separation anxiety Social functioning Selective mutism RAD DAD Tic disorders Tourette syndrome Speech disorders Stuttering Cluttering Stereotypic movement disorder Elimination disorders Enuresis Encopresis
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Complex Post-Traumatic Stress Disorder
Wikipedia
It may help to understand the intersection of attachment theory with C-PTSD and BPD if one reads the following opinion of Bessel A. van der Kolk together with an understanding drawn from a description of BPD: Uncontrollable disruptions or distortions of attachment bonds precede the development of post-traumatic stress syndromes. People seek increased attachment in the face of danger. ... PMID 31143410 . ^ "Religious Trauma Syndrome: It's Time to Recognize it" (PDF) . ndavidhubbardlmhc.com . ... PMID 29029837 . ^ a b c d Herman JL (1992). "Complex PTSD: A syndrome in survivors of prolonged and repeated trauma" (PDF) . ... "The Continuous Traumatic Stress Syndrome. The Single Therapeutic Interview".
- Autosomal Dominant Tubulointerstitial Kidney Disease, Umod-Related Gene_reviews
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Epimerase Deficiency Galactosemia
Gene_reviews
A number of other rare conditions, including the following, can also lead to elevated galactose or galactose metabolites in the blood or urine of an infant consuming milk: Portosystemic venous shunting Hepatic arteriovenous malformations Fanconi-Bickel syndrome (OMIM 227810) due to biallelic pathogenic variants in SLC2A2 .
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Management Of Drug-Resistant Epilepsy
Wikipedia
This procedure is only performed on a small group of patients under the age of 13 that have severe damage or malformation of one hemisphere, patients with Sturge Weber syndrome or patients with Rasmussen's encephalitis.DNM1L, RHEB, ABCB1, KIF1A, CDKL5, TBC1D9, MDH2, SCN1A, MTOR, SCN2A, ABCC2, GRIN2A, GFAP, MVP, HIF1A, IL6, ABCB6, SLC12A2, SLC12A5, ABCC1, CYP2C19, PAFAH1B1, LRP2, IL1B, HTC2, HMGB1, HSD17B10, ADK, PTPN4, CCL2, SYT1, SYNJ1, SV2A, MCF2L, PANX1, KCNT1, PIGO, EFHC1, MIR146A, SLC2A1, REST, CYP2C9, GAD2, BDNF, ALB, CYP3A4, HSD17B6, FARS2, TLR7, NT5C, FOXD3, PART1, ALDH7A1, SMUG1, BCL2, PLCB1, FBXO28, WAS, SACM1L, NTNG1, RALBP1, HPSE, CXCL13, NR1I2, CXCR5, ZDHHC3, RND2, BRAF, CACNA1C, CASP1, KEAP1, MLRL, CLOCK, MED23, ABCG2, ADIPOQ, CACNA1H, CASP3, GJA1, FZR1, TYR, AKT1, ARX, BRAT1, NEXMIF, MIR139, MIR142, MIR145, MIR223, TDP2, MIR301A, MIR323A, OPN1MW2, CCR2, MIR298, KIRREL3-AS2, AQP4-AS1, STRADA, SLC25A4, NTNG2, L2HGDH, UBA5, NARS2, HSPBAP1, WNK1, GORASP1, LGR6, SLC25A6, APOE, TBC1D24, FAM20C, RBFOX1, TREM2, VIP, TRIO, TSC2, LAMA2, EPO, IL17A, INSR, KCNA1, KCNA4, KCND3, LEP, CYP3A5, EIF4E, MAP2, DSCAM, TIMM8A, NFE2L2, NTRK2, EPRS1, IL1A, FOXG1, HNRNPU, FPR2, GABRA1, GSR, GRM3, GRM2, GRM1, GRIN2D, OPN1MW, GRIN1, GRIK2, GRIA3, GRIA2, GLO1, P2RX7, PDGFRB, GLI3, SLC6A8, CRK, SCN8A, COMT, SGK1, SLA, CNN3, CHI3L1, PIK3CA, SLC12A3, CDK5, CBR1, TGFB1, TIMP4, TNF, RPS6, ROM1, CYP2C18, TRIM27, AGER, RELA, QARS1, CYP2D6, PROS1, PPP3CA, PPARG, POMC, POLG, PIN1, PIK3CG, PIK3CD, PIK3CB, OPN1MW3
- Nipah Virus Infection Wikipedia
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Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Gene_reviews
Vascular retinopathy can also be caused by systemic lupus erythematosus, sarcoidosis, and ophthalmologic infections (which are outside of the scope of this GeneReview ). In Susac syndrome, vascular retinopathy and encephalopathy are part of the symptomatology, as is hearing loss, but hearing loss is very rare in RVCL-S.
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Progressive Myoclonus Epilepsy, Lafora Type
Gene_reviews
Although the occurrence of myoclonus and generalized tonic-clonic seizures in adolescence may raise the possibility of juvenile myoclonic epilepsy (OMIM 254770), the persistence of EEG background slowing and cognitive deterioration should raise the suspicion of a more severe epilepsy syndrome, such as progressive myoclonus epilepsy.NHLRC1, EPM2A, SNCA, APOE, CBLL2, PRKN, MUL1, GBA, CSTB, NNAT, CTSD, LAMP2, MAPT, OPN1MW, CYP2D6, OPN1MW3, EPM2AIP1, LRRK2, OPN1MW2, SNCB, LAMP1, ATP13A2, DNM1L, BCKDK, SQSTM1, DENR, KHDRBS1, VCP, LMTK2, TRIM32, DNAJC13, HIPK2, TARDBP, DAPK2, MIR4697, MICOS10-NBL1, RMDN2, STX1B, MAP1LC3A, PPP1R3B, DCP1A, SYBU, RMDN3, DCTN4, CHCHD2, RMDN1, EJM2, TTR, NFU1, BCL2L13, NUP62, UTRN, ACHE, HSP90B1, CLN3, GLUL, GFAP, FGFR3, DSP, CST3, CRMP1, CLN5, TPP1, GRN, CHI3L1, CASP2, BDNF, BCHE, AR, AMY2A, GRK2, GRK5, GTF2H1, SNCG, PARN, SLC1A2, SCN1A, ACP1, PTEN, PPP1R3C, SERPINI1, PFKL, NGF, GYG1, NBL1, MECP2, KRAS, INSRR, HSPA5, HSPA4, HSF1, PVALB
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Gaucher Disease
Gene_reviews
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Search Gaucher's disease case abstracts
Dyspnea and cyanosis with digital clubbing attributed to hepatopulmonary syndrome have been described in individuals with liver dysfunction, often caused by an intercurrent disease (e.g., viral hepatitis).GBA, CHIT1, SNCA, ACE, CLN8, GBAP1, PSAP, UGCG, GBA2, SCARB2, GRN, CTNNB1, VDR, IL6, CHI3L1, TFEB, GBA3, ELF3, OGA, GPNMB, TNF, GLB1, CD1D, C5AR1, C5, HEXA, SMPD1, HAX1, GRAP2, HDAC9, DCAF1, AHSA1, GDF15, ANGPT1, HSPB3, MGAM, NR1I2, RIPK1, AIMP2, NES, VEGFA, UGT1A, TTK, THBS3, TCP1, SPP1, SLC25A1, CXCR4, FGF21, RIPK3, UGT1A4, PLF, MIR155, MPEG1, CBLL2, PWAR1, RPAIN, ITCH, MUL1, SLC52A2, PINK1, HAMP, UGT1A3, UGT1A1, UGT1A9, MPRIP, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A10, INPP5K, DNAJB11, FOXP3, LAMP3, CCL18, POLDIP2, RNF19A, ATP13A2, SI, PKLR, CCL3, CTSB, GJB2, GEM, GC, GALC, FCGR3B, FCGR3A, F9, F2R, EPO, DVL1, CTSS, CTSK, CTSD, MAPK14, CCL2, CRK, CCR5, CCR4, CFTR, CD63, CD34, CD14, CAMP, BTF3P11, BGLAP, ATR, ASPA, ARSA, GLA, HFE, AGFG1, HSPA4, RPS27, RNASE1, PSEN1, MAPK1, PPT1, APCS, PRKN, TNFRSF11B, NPC1, MTX1, MTHFR, MAN1A1, SH2D1A, LSAMP, LEP, LAMP1, KIR3DL1, ISLR, ISG20, IRF6, IL2RA, IGHG3, IGH, IDUA, HSP90AA1, HSPB2, HSPB1, APELA
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Gnptab-Related Disorders
Gene_reviews
Even in the event of normal or near-normal small hand bones, colinear axis deviation of the fingers is frequent due to slowly progressive hardening of periarticular and tendon connective tissue; true claw-type hand deformation is rare in ML IIIα/β, but carpal tunnel syndrome is a regular feature. Supportive Biochemical Findings Assay of oligosaccharides (OSs) in urine. ... Autosomal Recessive Lysosomal Storage Disorders to Consider in the Differential Diagnosis of ML II View in own window Differential Diagnosis Disorder Gene Clinical Features of Differential Diagnosis Disorder Overlapping w/ML II Distinguishing from ML II Severe mucopolysaccharidosis type I (MPS I; Hurler syndrome) IDUA Coarse features Slowed statural growth Clawed hands MPS I is more prevalent, has more signs of storage on physical examination, & has less severe dysostosis multiplex on radiographs. ... Formerly referred to as Hurler-Scheie syndrome or Scheie syndrome 2. Also referred to as Hunter syndrome 3. In the past, mucopolysaccharidosis type IVB was referred to as Morquio syndrome type B. 4. Also referred to as Maroteaux-Lamy syndrome 5. Also referred to as Sly syndrome 6. A late-manifesting type II collagenopathy 7.
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Free Sialic Acid Storage Disorders
Gene_reviews
Additional reported features include nephropathy and/or nephrotic syndrome and hernias [Lemyre et al 1999, Ishiwari et al 2004]. ... At each visit Musculoskeletal Physical medicine &/or rehabilitation medicine, OT/PT assessment of mobility, self-help skills At each visit Nutritional monitoring incl vitamin D intake Cardiomegaly ECG and echocardiography Annually for signs of cardiomegaly Nephrotic syndrome Urinalysis for protein Annually Other Assess family need for social work support (e.g., palliative/respite care, home nursing, other local resources) & care coordination.
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Charcot-Marie-Tooth Neuropathy Type 4c
Gene_reviews
Mutation of SURF1 has also been associated with Leigh syndrome. TRIM2 . Compound heterozygous pathogenic variants have been reported in a female with childhood-onset axonal and demyelinating neuropathy with low weight and small muscle mass [Ylikallio et al 2013].
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Chchd10-Related Disorders
Gene_reviews
However, based on published data, CHCHD10- related ALS may include upper-limb onset, flail-arm syndrome, and bulbar signs [Müller et al 2014, Bannwarth et al 2015, Kurzwelly et al 2015, Ronchi et al 2015].
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Adcy5 Dyskinesia
Gene_reviews
SLC2A1 Paroxysmal choreoathetosis w/spasticity (See Glucose Transporter Type 1 Deficiency Syndrome.) AD (AR) Presents w/dystonic paroxysms affecting toes, legs, & arms; dysarthria; & changes in perioral sensation No distinguishing clinical characteristics AD = autosomal dominant; AR = autosomal recessive; DYT = dystonia; MOI = mode of inheritance 1.
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Hexa Disorders
Gene_reviews
CSF = cerebrospinal fluid; ERG = electroretinogram; HEX A = beta-hexosaminidase A; HEX B = hexosaminidase B; TSD = Tay-Sachs disease Spinocerebellar ataxia (SCA). Some spinocerebellar ataxia syndromes (e.g., ataxia caused by mutation of FGF14 , MTCL1 , or TXN2 or SCA7 with extreme anticipation) may be associated with early onset and can be considered in the differential diagnosis of subacute juvenile TSD (see Hereditary Ataxia Overview).
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Fabry Disease
Gene_reviews
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Search Fabry disease case abstracts
Proteinuria, isosthenuria, and a gradual deterioration of tubular reabsorption, secretion, and excretion occur with advancing age. Polyuria and a syndrome similar to vasopressin-resistant diabetes insipidus occasionally develop. ... Symptoms in individuals with Fabry disease are similar to those of other disorders including rheumatoid arthritis, juvenile arthritis, rheumatic fever, systemic lupus erythematosus (SLE), "growing pains," petechiae, Raynaud syndrome, early-onset stroke [Cabrera-Salazar et al 2005, Rolfs et al 2005] and multiple sclerosis [Callegaro & Kaimen-Maciel 2006].GLA, GLB1, NAGA, AGA, RPL36A-HNRNPH2, GAL, NOS3, UGCG, TTR, GAA, IDS, ELF3, TNF, ICAM1, UMOD, ABCB1, LAMP2, F5, VEGFA, TGFB1, NOS2, COL4A1, NOTCH3, TBC1D9, TTK, VCAM1, SOX2, TNNT1, SI, SMPD1, TLR4, SOD2, PRDX2, HNF1B, VDR, CDK5R1, VWF, UGT1A1, MIR451A, MIR423, MIR126, MPEG1, C16orf82, ATAD1, ACD, INF2, IGAN1, CHDH, PRKAG2, NPHS2, SMUG1, DAAM2, MCF2L, MLC1, SYNPO, RAPGEF5, ADIPOQ, MGAM, RPS27, CTSF, SELE, ACTB, PTGDS, DPP4, HNRNPA2B1, HNRNPA1, GUSB, SFN, G6PD, G6PC, FOS, F10, EPHA3, CTH, CTSA, CRP, SCARB2, CD80, BTK, ARSB, ARSA, APOE, AMBP, AGT, HSPA1A, HSPA1B, HSPA2, IDUA, PPBP, PON1, PODXL, PECAM1, NOTCH1, NOS1, NAIP, MYO5B, MPO, MEFV, MANBA, LRP2, LGALS3, LCN2, LAMP1, IL10, IL6, IL4, IL1A, NT5E
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Erythropoietic Protoporphyria, Autosomal Recessive
Gene_reviews
Acquired causes Polymorphous light eruption Solar urticaria Drug-induced photosensitivity Acquired late-onset EPP phenotype has been described in rare instances secondary to myelodysplastic syndrome caused by somatic pathogenic variant(s) that decrease ferrochelatase activity, presumably a result of the genomic instability associated with myelodysplasia [Aplin et al 2001, Sarkany et al 2006, Blagojevic et al 2010].
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Dystonia/parkinsonism, Hypermanganesemia, Polycythemia, And Chronic Liver Disease
Gene_reviews
Overexposure to manganese is known to be neurotoxic and causes ‘‘manganism’’ – a distinct syndrome of extrapyramidal movement disorder (dystonia/parkinsonism) combined with high signal intensity of the basal ganglia on T 1 -weighted MR images of the brain resulting from manganese accumulation in the basal ganglia [Racette et al 2012].
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Gaucher Disease, Type I
Omim
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Search Gaucher's disease case abstracts
In addition, there have been rare instances of Gaucher cells occluding pulmonary capillaries, with resulting pulmonary hypertension. The hepatopulmonary syndrome, as manifested by intrapulmonary shunting and hypoxemia, may also complicate type I Gaucher disease.GBA, SNCA, CHIT1, ACE, SCARB2, FBXO11, MSH6, GBAP1, CYP2D6, TNF, VDR, UGCG, H4C13, H4C5, H4C14, H4C2, SF3B1, BDNF, ABCG8, TET2, GBA3, HAMP, ABCG5, H4C3, PINK1, H4-16, ASXL1, PLF, H4C8, H4C9, H4C11, H4C12, CD34, CTNNB1, DVL1, DVL2, GJB2, HFE, TNFRSF11B, PAFAH1B1, PSAP, SLC6A3, YWHAE, BTF3P11, H4C1, H4C4, H4C6, H4C15