-
Party And Play
Wikipedia
The drug of choice is typically methamphetamine , known as crystal meth , tina or T , [2] but other drugs are also used, such as mephedrone , GHB , GBL , [3] and alkyl nitrites (known as poppers ). [4] Slamsex is associated with users who inject the drugs. [5] Some studies have found that people participating in such sex parties have a higher probability of acquiring sexually transmitted diseases , including HIV/AIDS , by having unprotected anal sex with large numbers of sexual partners. For this reason, it is considered "a public health priority." [3] Contents 1 Terminology 2 Participants and drugs 3 Risks 4 Statistics 5 History and cultural significance 6 Criticism 7 See also 8 References 9 Further reading 10 External links Terminology [ edit ] The practice is nicknamed "party 'n' play" ("PNP" or "PnP") by some participants. ... These substances have been used for dancing, socializing, communal celebration and other purposes. [21] The rise of online websites and hookup apps in the 1990s gave men new ways of cruising and meeting sexual partners, including the ability to arrange private sexual gatherings in their homes. [22] From the early 2000s, historic venues of gay socialization such as bars, clubs, and dance events reduced in number in response to a range of factors, including gentrification, zoning laws, licensing restrictions, and the increased number of closeted or under the influence sexually labile men, and the increasing popularity of digital technologies for sexual and social purposes. [23] In this context, PNP emerged as an alternative form of sexualized partying that enabled participants to avoid the public scrutiny and potentially judgmental and anxiety provoking nature of the "public space". ... In some instances, PNP sessions play a part in the formation of loose social networks that are valued and relied upon by participants. [22] For other men, increasing reliance on hookup apps and websites to arrange sex may result in a sense of isolation that may exacerbate the risk of drug dependence, especially in the context of a lack of other venues for gay socializing and sexual community-formation. [23] A 2014 study found that one of the key reasons for taking drugs before and during sex was to boost sexual confidence and reduce feelings of self-doubt, regarding feelings of "internalised homophobia" from society, concerns about an HIV diagnosis, or "guilt related to having or desiring gay sex". A key self-confidence issue for study participants was "body image", a concern that was heightened by the focus on social networking apps on appearance, because on these apps, there is a focus on idealized male bodies that are "toned and muscular".
-
Organ-Limited Amyloidosis
Wikipedia
The associated proteins are indicated in parentheses. Contents 1 Neurological amyloid 2 Cardiovascular amyloid 3 Other 4 References 5 External links Neurological amyloid [ edit ] Alzheimer's disease ( Aβ 39-43 ) Parkinson's disease ( alpha-synuclein ) Huntington's disease ( huntingtin protein) Transmissible spongiform encephalopathies caused by prion protein (PrP) were sometimes classed as amyloidoses, as one of the four pathological features in diseased tissue is the presence of amyloid plaques . These diseases include; Creutzfeldt–Jakob disease (PrP in cerebrum ) Kuru (diffuse PrP deposits in brain) Fatal familial insomnia (PrP in thalamus ) Bovine spongiform encephalopathy (PrP in cerebrum of cows) Cardiovascular amyloid [ edit ] Cardiac amyloidosis Senile cardiac amyloidosis-may cause heart failure Other [ edit ] Amylin deposition can occur in the pancreas in some cases of type 2 diabetes mellitus Cerebral amyloid angiopathy References [ edit ] ^ "Mayo Clinic Proceedings" . External links [ edit ] Classification D ICD - 10 : E85.4 ICD - 9-CM : 277.3 v t e Amyloidosis Common amyloid forming proteins AA ATTR Aβ2M AL Aβ / APP AIAPP ACal APro AANF ACys ABri Systemic amyloidosis AL amyloidosis AA amyloidosis Aβ2M/Haemodialysis-associated AGel/Finnish type AA/Familial Mediterranean fever ATTR/Transthyretin-related hereditary Organ-limited amyloidosis Heart AANF/Isolated atrial Brain Familial amyloid neuropathy ACys+ABri/Cerebral amyloid angiopathy Aβ/Alzheimer's disease Kidney AApoA1+AFib+ALys/Familial renal Skin Primary cutaneous amyloidosis Amyloid purpura Endocrine Thyroid ACal/Medullary thyroid cancer Pituitary APro/Prolactinoma Pancreas AIAPP/Insulinoma AIAPP/Diabetes mellitus type 2
-
Occupational Hearing Loss
Wikipedia
Some recent studies suggest that some smartphone applications may be able to measure noise as precisely as a Type 2 SLM. [15] [16] Although most smartphone sound measurement apps are not accurate enough to be used for legally required measurements, the NIOSH Sound Level Meter app met the requirements of IEC 61672/ANSI S1.4 Sound Level Meter Standards (Electroacoustics - Sound Level Meters - Part 3: Periodic Tests). [17] Ototoxic chemical exposure [ edit ] Chemically-induced hearing loss (CIHL) is a potential result of occupational exposures. ... This program includes: 1.”Monitoring to assess and record noise levels.” 2. “Periodic audiometry.” 3. “Noise Control” 4. ... International Journal of Audiology . 42 Suppl 2: 2S17–20. doi : 10.3109/14992020309074639 . ... "Evaluation of smartphone sound measurement applications (apps) using external microphones-A follow-up study" . ... "Smartphone-based sound level measurement apps: Evaluation of compliance with international sound level meter standards".
-
Pick Disease Of Brain
OMIM
Dermaut et al. (2004) reported a 54-year-old patient with a 2-year history of personality and behavioral changes, including loss of initiative, apathy, emotional blunting, and frontal disinhibition. ... Duration between symptom onset and death also varied between 2 to 16 years, with a mean of 9 years. ... Van Leeuwen et al. (2006) postulated that accumulation of APP+1 and UBB+1, which represents defective proteasome function, contributes to various forms of dementia. ... Groen and Endtz (1982) discussed other reports of families with the disease in 2 or more generations and unpublished observations on 3 other families. ... Molecular Genetics Of 30 cases of pathologically confirmed Pick disease, Pickering-Brown et al. (2000) identified 2 mutations in the tau gene in 2 unrelated patients: G389R (157140.0011) and K257T (157140.0014).
-
Hereditary Cystatin C Amyloid Angiopathy
Wikipedia
Most of the families with the defect gene can be traced to a region in the northwest of Iceland , around Breiðafjörður . [1] Mutations in the cystatin 3 gene are responsible for the Icelandic type of hereditary cerebral amyloid angiopathy , a condition predisposing to intracerebral haemorrhage , stroke and dementia . [2] [3] The condition is inherited in a dominant fashion . ... External links [ edit ] Classification D ICD - 10 : E85.4+ I68.0* OMIM : 105150 External resources Orphanet : 85458 v t e Amyloidosis Common amyloid forming proteins AA ATTR Aβ2M AL Aβ / APP AIAPP ACal APro AANF ACys ABri Systemic amyloidosis AL amyloidosis AA amyloidosis Aβ2M/Haemodialysis-associated AGel/Finnish type AA/Familial Mediterranean fever ATTR/Transthyretin-related hereditary Organ-limited amyloidosis Heart AANF/Isolated atrial Brain Familial amyloid neuropathy ACys+ABri/Cerebral amyloid angiopathy Aβ/Alzheimer's disease Kidney AApoA1+AFib+ALys/Familial renal Skin Primary cutaneous amyloidosis Amyloid purpura Endocrine Thyroid ACal/Medullary thyroid cancer Pituitary APro/Prolactinoma Pancreas AIAPP/Insulinoma AIAPP/Diabetes mellitus type 2
-
Amyloid Purpura
Wikipedia
Amyloid purpura Purpura Specialty Dermatology Amyloid purpura is a condition marked by bleeding under the skin ( purpura ) in some individuals with amyloidosis . [1] Its cause is unknown, but coagulation defects caused by amyloid are thought to contribute. Contents 1 Presentation 2 Cause 3 Diagnosis 4 Treatment 5 Epidemiology 6 See also 7 References Presentation [ edit ] Amyloid purpura usually occurs above the nipple-line and is found in the webbing of the neck and in the face and eyelids. [1] Cause [ edit ] The precise cause of amyloid purpura is unknown, but several mechanisms are thought to contribute. [2] One may be a decrease in the level of circulating factor X , [2] a clotting factor necessary for coagulation . The proposed mechanism for this decrease in factor X is that circulating amyloid fibrils bind and inactivate factor X. [2] Another contributing factor may be enhanced fibrinolysis , [2] the breakdown of clots . Subendothelial deposits of amyloid may weaken blood vessels and lead to the extravasation of blood. [2] [3] Amyloid deposits in the gastrointestinal tract and liver may also play a role in the development of amyloid purpura. [2] Diagnosis [ edit ] This section is empty. ... PMID 7878478 . v t e Amyloidosis Common amyloid forming proteins AA ATTR Aβ2M AL Aβ / APP AIAPP ACal APro AANF ACys ABri Systemic amyloidosis AL amyloidosis AA amyloidosis Aβ2M/Haemodialysis-associated AGel/Finnish type AA/Familial Mediterranean fever ATTR/Transthyretin-related hereditary Organ-limited amyloidosis Heart AANF/Isolated atrial Brain Familial amyloid neuropathy ACys+ABri/Cerebral amyloid angiopathy Aβ/Alzheimer's disease Kidney AApoA1+AFib+ALys/Familial renal Skin Primary cutaneous amyloidosis Amyloid purpura Endocrine Thyroid ACal/Medullary thyroid cancer Pituitary APro/Prolactinoma Pancreas AIAPP/Insulinoma AIAPP/Diabetes mellitus type 2 This cutaneous condition article is a stub .
-
Primary Cutaneous Amyloidosis
Wikipedia
Primary cutaneous amyloidosis Other names Primary localized cutaneous amyloidosis [1] Macular amyloidosis, located on the right lumbar region of the back Specialty Dermatology Primary cutaneous amyloidosis is a form of amyloidosis associated with oncostatin M receptor . [2] [3] This type of amyloidosis has been divided into the following types: [4] : 520 Macular amyloidosis is a cutaneous condition characterized by itchy, brown, rippled macules usually located on the interscapular region of the back. [4] : 521 Combined cases of lichen and macular amyloidosis are termed biphasic amyloidosis, and provide support to the theory that these two variants of amyloidosis exist on the same disease spectrum. [5] Lichen amyloidosis is a cutaneous condition characterized by the appearance of occasionally itchy lichenoid papules , typically appearing bilaterally on the shins. [4] : 521 Histopathology of lichen amyloidosis, with subepithelial Congo red -positive deposits Nodular amyloidosis is a rare cutaneous condition characterized by nodules that involve the acral areas. [4] : 521 See also [ edit ] Amyloidosis List of cutaneous conditions References [ edit ] ^ "Primary cutaneous amyloidosis | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" . rarediseases.info.nih.gov . ... ISBN 978-0-7216-2921-6 . ^ Lichen amyloidosis of the auricular concha Craig, E. (2006) Dermatology Online Journal 12 (5): 1, University of California, Davis Department of Dermatology External links [ edit ] Classification D ICD - 9-CM : 277.3 OMIM : 105250 MeSH : C562643 DiseasesDB : 29871 v t e Amyloidosis Common amyloid forming proteins AA ATTR Aβ2M AL Aβ / APP AIAPP ACal APro AANF ACys ABri Systemic amyloidosis AL amyloidosis AA amyloidosis Aβ2M/Haemodialysis-associated AGel/Finnish type AA/Familial Mediterranean fever ATTR/Transthyretin-related hereditary Organ-limited amyloidosis Heart AANF/Isolated atrial Brain Familial amyloid neuropathy ACys+ABri/Cerebral amyloid angiopathy Aβ/Alzheimer's disease Kidney AApoA1+AFib+ALys/Familial renal Skin Primary cutaneous amyloidosis Amyloid purpura Endocrine Thyroid ACal/Medullary thyroid cancer Pituitary APro/Prolactinoma Pancreas AIAPP/Insulinoma AIAPP/Diabetes mellitus type 2 This cutaneous condition article is a stub .
-
Wrongful Abortion
Wikipedia
Wrongful Abortion: A Wrong in Search of a Remedy , Yale Journal of Health Policy, Law and Ethics 507 (2005). ^ Baker v. Gordon, 759 S.W.2d 87 (Mo. Ct. App. 1988) (available through LexisNexis Archived 2011-02-04 at the Library of Congress Web Archives and Westlaw ) ^ Appel, J. ... Medicine and Health, Rhode Island . 87 (2): 55–8. PMID 15031969 . ^ Johnson v. ... Supp. 7 (D.D.C. 1993) ^ Breyne v. Potter, 574 S.E.2d 916 (Ga. Ct. App. 2002) ^ Martinez v. Long Island Jewish Hillside Med. ... Physicians, Wrongful Life and the Constitution Medicine & Health, Rhode Island Volume 87, Number 2. February 2004. Further reading [ edit ] Appel, J. ... Medicine and Health, Rhode Island . 87 (2): 55–8. PMID 15031969 . Perry, Ronen & Adar, Yehuda.
-
Neurodegeneration
Wikipedia
Biochemical Society Transactions . 33 (Pt 2): 335–8. doi : 10.1042/BST0330335 . ... Saunders, pp. 329–349, ISBN 978-0-7234-3748-2 , retrieved 2020-12-07 ^ a b c Stys, Peter K.; Tsutsui, Shigeki (2019-12-13). ... "DNA damage and its links to neurodegeneration" . Neuron . 83 (2): 266–282. doi : 10.1016/j.neuron.2014.06.034 . ... "DNA repair deficiency in neurodegeneration" . Progress in Neurobiology . 94 (2): 166–200. doi : 10.1016/j.pneurobio.2011.04.013 . ... Cold Spring Harbor Perspectives in Medicine . 2 (9): a006387. doi : 10.1101/cshperspect.a006387 .NGF, SNCA, APP, EPO, SIRT1, ATXN1, MAPT, HMOX1, PSEN1, PANK2, GDNF, HCRT, IL6, CRYAB, GSTO1, IDO1, TBCD, TTC19, SERPINA1, SOD2, GSTM1, GSTM2, SELENOP, APOD, VIM, KYNU, FTH1, PDE8B, AGPAT3, GSR, NGFR, GPX3, SPTAN1, PKD2, MGST1, GSTM4, GSTM5, SEPTIN5, LRRK2, INA, CAT, FTL, AIMP1, CLEC16A, APLP2, GOT2, ATG7, NQO1, TNF, PRNP, OPA1, RMDN2, CLN3, SACS, MTOR, NPC1, FXN, ATXN7, TREM2, NFE2L2, NEFL, P2RX7, TGM2, ATXN2, FMR1, PPARGC1A, RMDN1, SNCG, TPP1, SETX, TSPO, SNCB, CDK5, PIK3CG, PIK3CD, SMN2, SMN1, SIRT2, PPARG, SNRPN, PIK3CB, C9orf72, PIK3CA, NLRP3, PTPA, PPT1, PRKN, CLU, SOD1, FUS, CSF2, AR, STMN1, APOE, LAMC2, SIGMAR1, GRN, PLA2G6, TTR, DNM1L, IL1B, ABCD1, CDK5R1, HDAC6, SQSTM1, IGFALS, SNURF, MFN2, PARP1, PINK1, IGF1, HTT, HFE, ACTB, HSP90AA1, ACHE, HSPA4, LCN2, OPTN, TARDBP, SYBU, GABPA, BDNF, MAOB, GCG, UCHL1, BCHE, RMDN3, ATXN3, GFAP, VEGFA, VCP, ATM, GRIN2B, EIF2B2, TLR4, GAPDH, GBA, KHDRBS1, GTF2H1, EIF2S2, ANG, CP, EIF2B4, REN, DCTN4, NUP62, EIF2B1, PIN1, TPPP, GSK3B, HSF1, ITM2B, HRES1, S100B, TP53, BACE1, CTSD, MAOA, TMED9, TMEM106B, CASP6, TFEB, CASP3, PTBP1, NGB, MAPK8, MAPK1, DAPK2, MAK16, RBMS3, PNO1, SRRM2, GLP1R, CTNNB1, MGLL, SIRT3, DENR, CNR2, KEAP1, SLC6A4, UTRN, CNTF, CRMP1, OGA, PNPLA6, EPM2A, SLC1A2, LEP, SLC6A3, PREP, AKT1, CLN5, DYRK1A, ITPR1, STH, LY6E, ARSA, HTRA2, DNAJC5, MPO, P4HB, GALC, TRPM2, CHCHD10, AGER, NCL, PTGS2, CHMP2B, ADIPOQ, HDAC9, SGSH, ABHD12, CNR1, TXN, SPP1, WFS1, NRGN, STAT3, TRPV1, EIF2AK3, CX3CL1, TDP1, ATP13A2, VDR, EPHB2, UBB, KL, MS, TAC1, APTX, TTPA, HSP90B2P, DNMT1, PRKCG, DCTN1, SUCLA2, PQBP1, SORT1, MAPK10, VPS13A, CHI3L1, SMUG1, HSPB8, CASP8, ADAM10, KLK6, TRPM7, HMGB1, CST3, REST, STUB1, MIR29A, MIR132, GCHFR, CLN6, HSPD1, TXNIP, ANXA1, SV2A, IL10, UPK3B, IL12A, IREB2, CAMK4, ELP1, SUGP1, BCL2, HAMP, YWHAZ, DNAJB1, MBP, NR1H2, MNAT1, UCP2, CSF1R, AFG3L2, PARK7, MCIDAS, SURF1, UBQLN2, ABCB1, CDCA5, ACE, SST, DKK1, KIF1B, PLA2G1B, TLR2, PLP1, DISC1, SARM1, ATN1, PPARA, EWSR1, DPP4, ATL1, CSTB, CREBBP, FCN2, NPY, HNRNPA1, PTEN, HOXD13, PRKAB1, RHO, REG1A, RIPK1, PRKAA2, IL1A, HDAC3, SI, HSPA1A, HNRNPA2B1, APLN, HSPB1, SYNJ1, TECPR2, IAPP, PSMD2, PTN, SOCS3, MARK4, LGMN, KMO, MAPK3, EPG5, IFNG, PTPN1, EIF2AK2, CCL2, MGAM, NAGLU, TAF15, PRKAA1, HSPA14, CHCHD2, WDR45, COX2, TAT, TYROBP, MTHFR, TYR, GEMIN4, TBP, NOS3, TDO2, TGFB1, S100A1, PDE10A, MSI1, TBK1, POLG, SPTBN2, MCOLN1, KCNC3, CFDP1, MANF, MAP3K12, SPAST, TMEM97, PDYN, VIP, SGSM3, MEFV, MFGE8, PFN1, AHSA1, CD200, PICK1, ALDH2, KIF1A, GLB1, CBLL2, CRH, TAAR1, MUL1, CRP, ATP7A, GPER1, CDNF, ACO2, SESN2, ATF4, PDIA3, GRM5, GRIA2, MIR34A, CBS, HNRNPA1P10, EIF4G2, CX3CR1, CYBB, NR3C1, FOLR2, ALOX5, ADCYAP1, DECR1, ABCA1, AQP4, HDAC2, DYNC1H1, LYST, APEX1, CACNA1A, CASP1, NIPA1, TTBK1, HIF1A, NRG1, DPYSL2, ASPA, DNAJB1P1, FOLR1, HEXA, CYP46A1, MRGPRX3, PLCG2, PLG, PLA2G4A, MRGPRX4, GSTO2, YME1L1, CALB1, TMSB4X, C5, C5AR1, BSCL2, MIR137, DRD2, PON1, TNFRSF1B, TPO, A2M, MIR183, EGFR, CXCR4, GPNMB, SLC11A2, PTK2B, NRTN, NTRK2, WNT1, SLC25A46, SEPSECS, ASAH1, F2R, MTDH, NPC2, GPR166P, VN1R17P, VDAC1, UBQLN1, ERBB2, PDC, PYCARD, PDE4A, DNAH8, PDE7A, SUMO1, CLN8, TYMS, BRAF, PHPT1, POLDIP2, CANT1, RRAS, OXER1, ATXN8OS, EXOSC8, CRK, STIM1, MAPK14, PNKP, CCL11, ZFYVE26, ROS1, PLB1, LPAR3, TACR1, RGS10, HEXD, SGCG, MIR107, SOX3, PCSK9, KDM1A, SNAP25, CETP, GPRC6A, BRAT1, SLC18A2, SGK1, SLC6A2, ACSBG1, SLC2A1, MLKL, CDC42, SPTBN1, PDIK1L, PADI4, RBM3, DBN1, RELN, CASP2, DBH, CD200R1, MAP2K7, LINGO1, TIMM8A, CUX1, CAST, FAM168B, PRKCD, DHCR24, DIO2, DLG4, DAPK1, STIP1, DAG1, CASP9, CYP27A1, PARS2, TMED10, CYP19A1, CLIC4, GPR151, RNF19A, PTPN11, PRDX5, TERT, RIPK3, RAC1, MOK, BDNF-AS, P2RY2, MRGPRX1, MSC, IL4, VPS35, SPG11, IL3, GLE1, MID1, GJA1, MBTPS1, PEA15, BECN1, IL2, ABCD2, MMP9, MMP14, GIP, MOG, SNCAIP, MAD2L1BP, LRPPRC, MTPAP, GH1, IGF2, DNAJB6, MDK, ALS2, NDRG2, HAP1, ADM, ACP3, INSR, RARS2, MTCO2P12, GRIN1, AIFM1, RPSA, SLC52A2, LDLR, GLUL, AGTR1, TUBB4A, CISD1, LPL, LRP1, SLC33A1, VAPB, NARS2, ALB, MAS1, HSD17B10, CCR2, NDUFA1, ABCG2, RNR2, GRAP2, CFH, HGF, SPOAN, PRUNE1, APC, NEDD4, NEFH, HSPA9, HSPA5, ANPEP, ANP32A, HK1, HSPA1B, DNAJB2, ABCA7, AAVS1, SLC25A27, LGR6, AIMP2, HMBS, FZD4, JPH3, BAG3, SNX27, ABL1, BLZF1, ATP6, SLC25A38, OXR1, POLR3A, TMEM189, CIT, LZTS3, RAB21, NDUFS7, CLOCK, UNC13A, PTGES, KIF20B, HES3, TMEM189-UBE2V1, CDC37, SCRN1, TMED10P1, RUFY3, NLRP1, ADAP1, H3P13, DNAJC6, KIF21B, SIRT1-AS, P2RX2, TMEM59, GEN1, DDX19B, NANOS3, PGP, PADI2, GOSR1, RGS6, SLC2A6, C14orf177, NEAT1, NPAS4, MMRN1, STXBP5L, ZNF763, TMEM119, PWAR4, ISG15, IMMT, PDAP1, H3P14, TUSC2, HDAC4, SBNO2, COPD, PSIP1, H3P7, RACK1, SETDB1, CXCL13, RAMP2, COQ7, GDF11, SCGN, ATP6AP2, CEBPZ, NAMPT, TMEM41B, SCA26, SH2B2, SFTPA1, MIR30B, MIR25, CXCR6, MIR21, MIR200A, MIR184, LOC643387, DNAJA2, FIG4, HSPA12A, CLN9, MIR504, CISD2, TUBA1B, CACNG2, KLF2, CLEC10A, NXF1, TFG, KAT5, NOP56, SULT1A4, XRCC6P5, BATF, AKR1A1, SPTLC1, RTN3, PARK12, CTCF, MIR603, MIR155, SLC12A6, SLX1A-SULT1A3, PAPOLA, ARMCX5-GPRASP2, P2RX5-TAX1BP3, TCERG1, NR1H4, ERP29, MVP, SCGB1D4, RBM8A, GDNF-AS1, PGR-AS1, ATXN2-AS, CRYAA2, CLP1, COPS5, LINC01672, RAB10, MRPS30, CYSLTR1, FARS2, MIR146A, MIR144, PPIF, PTGES3, C20orf181, ARPP19, PTPRU, AAA1, CCL27, HPSE, PGRMC1, HBD, ABCB6, AOS, KCNE3, NUP153, NECAB1, MFSD8, SYT14, SYVN1, CCDC115, MINDY4, PPP1R1B, RNF146, ADPRS, OCIAD1, TXNDC5, TESC, GDPD5, DARS2, BHLHB9, SBNO1, ZNF436, ROCK2, NAT10, UBA6, SPTLC3, YOD1, FOXRED1, AMBRA1, PPP4R3A, OPA3, NAXD, IFT122, DNAJC10, TERF2IP, ABLIM2, ADO, NAGPA, RPPH1, CRBN, ABI3, VRK3, BFAR, DNAJC14, NRN1, DCDC2, IL23A, TDP2, ATP6V1H, GDAP1, CIAO2B, RASD1, TPPP3, ORAI1, PARP10, ATP8A2, PTPN5, PANK1, DUOX1, TLR9, TREM1, ASRGL1, ZNF415, SLC8B1, REEP1, ZNF512B, LYNX1, NLN, KIDINS220, TAOK1, SEMA6A, CFAP97, FUNDC2, WNK1, STIM2, DPP10, BCL11B, BIRC6, PORCN, SPG16, MTHFSD, SMURF2, LSM2, PDIA2, SENP2, GORASP1, INF2, SIL1, PROK2, MYORG, SCYL1, L2HGDH, SPHK2, PAG1, CCDC51, SELENOS, HDAC8, ZNF253, PRMT8, SLC2A9, TMPRSS4, TWNK, EFHD2, RETN, FA2H, COLEC11, ACKR3, PCBP4, SLC17A6, RPGRIP1, TIGAR, GGCT, THAP11, GJD2, AICDA, METRN, ABHD6, CHRFAM7A, SDF4, MCU, PLXNB2, CABIN1, SEC14L2, GAREM2, MANEAL, ZNF569, TTBK2, PWAR1, CD2AP, PIWIL4, PRND, HSPBP1, GABARAPL1, MACF1, FBXO7, QPCT, SEMA4A, POLR1A, PPARGC1B, ATL3, SH2B1, ACOT11, ATRNL1, CHD5, OCIAD2, SLC39A14, QPRT, APPL1, MGRN1, FNDC5, NMNAT2, OARD1, FOLH1B, MAST2, RTL3, UBR1, PAOX, RLS1, WWC1, AGTPBP1, ARX, SLC44A1, IDO2, SPATA5, DNAJC13, ZNF629, TOR1AIP2, KCTD7, SIRT5, SLC2A12, NCS1, KCNH4, GPBAR1, GIGYF2, KCNH8, LRSAM1, PADI1, SLC52A3, SLC46A1, PRRT2, PCLO, OPN4, REM1, OSTM1, FLVCR1, FTMT, HIPK2, TMEM230, TBCK, CYGB, PILRB, DNER, NOP53, ERVW-1, DUOX2, MTG1, ASAP1, HDGFL3, GMNN, PLXNA4, ADIPOR1, CYP2U1, GPRASP2, AHSA2P, BBC3, PTPN22, FBXL5, HIBCH, BHLHE23, FGF20, GNL3, SLC17A5, RNF11, FETUB, SIGLEC7, B3GAT1, DKK3, UHRF2, EXOSC6, AGO2, IP6K3, COQ2, TNFRSF21, PDLIM3, APEX2, HPGDS, RAB39B, NXNL1, RABGEF1, ATXN10, SORL1, SH3BP5, GRM4, GLRX, GM2A, GMFB, CXCR3, GPR17, GPR18, MCHR1, GPR26, GPR42, GRK5, GRIK3, GRIN2D, GRM2, GRM3, GSN, HSPA6, GSS, GSTP1, GUSB, HBB, HCLS1, HDAC1, HEXB, UBE2K, HK2, HLA-C, HLA-G, HMGA1, NR4A1, HPX, GLO1, GIPR, CBLIF, GHRH, EPRS1, EREG, ERN1, ESR2, EZH2, F2RL1, F3, F5, F9, FAAH, FABP3, BPTF, FDPS, FGF1, FGF9, FOXO1, FOXO3, FLNB, FOLH1, FOS, FOSB, FPR2, FRAXE, G6PD, GAD1, GAP43, GBAP1, KAT2A, GFER, AGFG1, HSPB2, ENO2, MECP2, KCNN1, KIT, LGALS1, LGALS3, LIFR, LIPC, LMNB1, LMX1B, LOX, LPA, NBR1, MARK1, MCL1, MDM2, MAP3K5, HSP90AB1, KITLG, MGST3, MIF, MLF1, MAP3K11, KMT2A, MMP1, MMP2, MPP1, MPST, MPZ, MRC1, MSH2, MSN, KCNMA1, KCND3, KCNB1, JUND, HTR2A, HTR2C, ICAM1, IRF8, IDE, IDH2, IFIT3, RBPJ, IKBKB, IL1RN, IL2RA, IL2RB, IL7R, CXCL8, IL13, IL13RA1, IL15, IL17A, IL18, INPPL1, IRF4, ISG20, ITGAM, ITGB2, ITIH4, ITPR2, ITPR3, JUN, JUNB, EPHA1, ENG, MST1, C9, ATR, AVP, BAX, BCL2L1, BCL6, BCYRN1, BGN, BLMH, BLVRA, BNIP3, BRCA2, BRS3, BTK, CAPN5, CAD, SEPTIN7, CAPN2, CASP7, CASR, CAV1, CAV2, CD14, CD33, SCARB2, CD38, CD40, CD40LG, CD63, CD68, CDK1, ATP5MC1, ATHS, ARNTL, RHOA, SERPINA3, ACADM, ACOX1, ACP1, ACYP2, ADCYAP1R1, ADORA1, ADORA2A, ADRA1A, ADRA2B, ADRB2, AHR, AHSG, AIF1, AK4, AKT2, ALOX12, ALOX15, ALPP, AMD1, AMD1P2, AMPD2, ANK1, APAF1, APBB1, APLP1, APOA1, KLK3, AQP1, CDK11B, CDC27, MARK2, DMPK, CTBP2, CCN2, CTSB, CTSK, CTSZ, CYP2B6, CYP2D7, CYP2D6, DARS1, DBI, DDX3X, DES, COCH, DLST, DOCK2, CDH1, SLC26A3, DRD1, DUSP2, DUSP6, E2F1, EDN1, EDNRA, EEF1A1, EGF, EIF4E, EIF4G1, ELANE, ELAVL2, ELK1, CST6, SLC25A10, VCAN, CSNK1D, CDH15, CDK2, CDK6, CDK9, CDKN2A, CDKN2D, CEBPD, CETN1, CFL2, CHAT, CHD2, CHGA, CHIT1, CHRM1, CHRNA4, CHRNA7, CISH, CLK1, CCR5, COL11A2, COL17A1, COMT, COX8A, CPN1, CPOX, ATF2, CRHR1, CRYAA, CRYZ, MSRA, MT3, AIM2, TNFRSF1A, TF, TFAM, TFCP2, TFRC, THBS1, THOP1, THY1, TIA1, TIMP1, TIMP2, TIMP3, TKT, TLR1, TLR3, TNR, VEGFB, TPP2, TPR, TPT1, TRAF6, TRPC3, TRPC5, TSC1, TSC2, TUBA4A, UBC, UBE2V1, UBE3A, UCHL3, UNG, TMBIM6, TEAD1, PRDX2, TCF3, SLC9A5, SLC18A1, SLC18A3, SLC20A2, SLPI, SON, NAT2, SOS1, SP100, SPARC, SPG7, SPR, SRF, TRIM21, SSTR4, STAT1, STC1, ELOVL4, STX5, SULT1A3, SUPT4H1, SUPT5H, SYK, SYN1, SYT1, TAF1, TAF2, TAP1, CNTN2, VARS1, VGF, SKIL, USP14, RAB11A, ASAP2, NR1I2, SPHK1, SGPL1, MTMR2, ENDOU, CACNA1G, BSN, MBD2, HSPB3, KALRN, F2RL3, SPAG9, P2RX6, VRK2, SYNGR3, LPAR2, XPR1, NOG, TSPOAP1, PIWIL1, GPR55, KLF4, SLIT2, PPIG, PPT2, COX5A, SELENOF, CYP7B1, PABPC4, RNMT, EIF3A, USO1, VSNL1, WNT2, XBP1, XK, XPNPEP1, YY1, SLC30A3, RAB7A, BAG6, SLC39A7, TFPI2, ARHGEF5, NCOA4, AAAS, CLLS2, GAN, GDF5, TAM, USP9X, EPX, TRRAP, PICALM, BAP1, NR0B2, SUPT3H, OGT, KHSRP, AKR7A2, PRKRA, SLC5A2, SHH, NUDT1, PDE2A, P2RX3, P2RX4, P2RX5, P2RY1, PAEP, PRDX1, PAK1, PAK3, REG3A, PAWR, PAX6, PCBP1, PCBP2, PCSK1, PDE4D, PML, PDE9A, PDK1, SERPINF1, PEX6, PFDN5, SLC25A3, PHEX, PHF1, SERPINI1, PITX2, PLA2G2A, PLA2G5, PLAT, PLS3, P2RX1, OXT, OPRD1, OGG1, MTM1, ND3, ND5, MUTYH, MYOC, PPP1R12A, NACA, NAP1L2, NDN, NDUFAB1, NDUFS8, NEK1, NF2, NFKB1, NNAT, NME3, NQO2, NOS1, NOTCH1, NOTCH3, NOVA1, PNP, NPPA, NPY2R, NTF3, NTRK1, NTS, NR4A2, OGDH, PLXNA2, PMP22, SH3GL3, RPE, RAN, RAP1A, RARB, RARS1, RASA1, RASGRF1, RBBP6, OPN1LW, RELA, RENBP, RNASE4, BRD2, RORC, RPGR, RPS4X, PRRX1, RPS6KB1, RPS25, RPS27A, RREB1, RRM2, RXRA, S100A6, S100A9, S100A10, SCN8A, SCP2, SCT, SRSF7, ITSN1, RAB1A, QARS1, PTPRA, PTPN13, SEPTIN4, POLD1, POU3F2, POU3F4, PPARD, PPIA, PPID, PPP1CB, PPP2CA, PPP2R2B, PPP5C, PRKAR1B, PRKCA, PRKCB, PRKD1, MAPK9, MAP2K5, PRL, PROC, HTRA1, PSD, PSEN2, PSG5, PSMC1, PSMD1, PSMD8, PSMD12, PTK2, PTPN6, H3P17
-
Haemodialysis-Associated Amyloidosis
Wikipedia
Haemodialysis-associated amyloidosis is a form of systemic amyloidosis associated with chronic kidney failure . [1] Even if this is common in CKD patients with chronic regular dialysis, it can be also seen in patient with CKD but have never dialysed too. [2] Contents 1 Presentation 2 Diagnosis 3 Prevention 4 Management 5 See also 6 References 7 External links Presentation [ edit ] Long-term haemodialysis results in a gradual accumulation of β 2 microglobulin , a serum protein, in the blood. [3] It accumulates because it is unable to cross the dialysis filter. ... There are several steps in prevention of dialysis related amyloidosis. [4] Use of high flux dialyzers Use of Beta 2 globulin absorber Preserve the residual kidney functions Early kidney transplant In addition low copper dialysis is theorized to prevent or delay onset. [5] Management [ edit ] Management of haemodialysis associated amyloidosis is symptomatic. ... See also [ edit ] Hepatoerythropoietic porphyria List of cutaneous conditions References [ edit ] ^ Miyata T, Oda O, Inagi R, et al. (September 1993). "beta 2-Microglobulin modified with advanced glycation end products is a major component of hemodialysis-associated amyloidosis" . ... Nephron 1991; 59: 654–657 ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set . St. Louis: Mosby. ISBN 978-1-4160-2999-1 . ^ "Dialysis Related Amyloidosis" . ^ "BU Amyloid Treatment & Research Program" . ... External links [ edit ] https://academic.oup.com/ndt/article-pdf/13/suppl_1/58/9896967/130058.pdf Classification D ICD - 10 : E85.3 ICD - 9-CM : 277.3 External resources eMedicine : med/3384 v t e Amyloidosis Common amyloid forming proteins AA ATTR Aβ2M AL Aβ / APP AIAPP ACal APro AANF ACys ABri Systemic amyloidosis AL amyloidosis AA amyloidosis Aβ2M/Haemodialysis-associated AGel/Finnish type AA/Familial Mediterranean fever ATTR/Transthyretin-related hereditary Organ-limited amyloidosis Heart AANF/Isolated atrial Brain Familial amyloid neuropathy ACys+ABri/Cerebral amyloid angiopathy Aβ/Alzheimer's disease Kidney AApoA1+AFib+ALys/Familial renal Skin Primary cutaneous amyloidosis Amyloid purpura Endocrine Thyroid ACal/Medullary thyroid cancer Pituitary APro/Prolactinoma Pancreas AIAPP/Insulinoma AIAPP/Diabetes mellitus type 2 This dermatology article is a stub .
-
Hearing Loss
Mayo Clinic
Maximum job-noise exposure allowed by law Sound level, decibels Duration, daily Based on The National Institute for Occupational Safety and Health (NIOSH), 2018. 90 8 hours 92 6 hours 95 4 hours 97 3 hours 100 2 hours 102 1.5 hours 105 1 hour 110 30 minutes 115 15 minutes or less Complications Hearing loss can make life less pleasant. ... A whisper test, which involves covering one ear at a time while listening to words spoken at many volumes, can show how you react to other sounds. App-based hearing tests. You can use a mobile app on your tablet to screen yourself for hearing loss. ... These include TV-listening systems or devices that make phone sounds stronger, smartphone or tablet apps, and closed-circuit systems in public places.SLC26A4, PCDH15, USH1G, MSRB3, GSDME, DNMT1, TJP2, TECTA, WFS1, GJB6, GJB2, MYO7A, GJB3, OTOF, USH2A, CDH23, EYA4, TMPRSS3, TMC1, PRPS1, ACTG1, WHRN, TRIOBP, USH1C, LRTOMT, MYO15A, MARVELD2, ILDR1, SIX1, POU3F4, PJVK, COL4A5, FGFR3, ADGRV1, CHD7, MYO3A, SALL4, TMIE, FOXC1, GRXCR1, DSPP, FANCC, FGF3, PITX2, COCH, GIPC3, TPRN, EYA1, SLC33A1, CLDN14, FANCG, FANCA, BTD, ARSB, PNPT1, SLC29A3, APOE, CLRN1, GRHL2, SMPX, ESRRB, CIB2, SLC26A5, COL11A2, LOXHD1, CRYM, DIAPH1, SH3PXD2B, TIMM8A, OTOA, RDX, LMX1A, STAG2, CACNA2D2, TLR4, ERCC6, MN1, NTF3, RPS6KA3, TRAPPC4, ABHD5, RPGR, HSD17B4, DIABLO, FOXI1, CCDC50, SOD1, ATP6V1B1, MIR96, ABHD12, BCL2L1, CISD2, BSND, MYO1A, SLC17A8, STAT1, CDK8, SERPINB6, UCP2, BDNF, PDE5A, UCP3, IL10, ARC, KCNQ4, STRC, POU4F3, ELMOD3, OTOGL, SLC26A2, LHFPL5, ESPN, CEACAM16, TBC1D24, SOX10, PAX3, GUSB, TFAP2A, IQGAP2, LMNA, GJB1, GJB4, MANBA, ATP6, KCNE1, MPZ, COL2A1, CDC14A, COL4A4, PMP22, CABP2, RMND1, OTOG, EDN1, TFAP2B, TCF12, HNF1B, UBE2A, FIG4, TWIST1, ALMS1, TELO2, IFT140, PIEZO1, MED12, SEMA3E, SHOC2, CEP57, IQCB1, GDF3, GABBR2, AMMECR1, CREB3L1, SCO2, CERT1, ZMPSTE24, SF3B4, COQ7, KDM6A, BCAP31, SLX4, PIGO, TBX1, NSD2, ZIC1, PQBP1, TBX15, NELFA, LMNB2, WNT5A, ABCB6, XRCC2, PPP1R15B, TULP1, KMT2D, ARL6, TBX4, BMP15, TRRAP, SHANK3, CDC45, BUB3, PLA2G6, AIFM1, SMC3, PLOD3, KYNU, TGFB1, ZNF469, PEX11B, TNFRSF11A, PHF6, OFD1, TP63, TNFSF11, CNTNAP1, TGM1, STUB1, LRAT, TERT, MKKS, PIGL, CHST3, ANTXR1, ITM2B, TERC, RECQL4, COG1, USP9X, ARID1A, RBM10, USP45, TK2, NRXN1, THRB, TRIP13, NAA10, RNF135, AP1S2, CEP290, TCIRG1, TBL1XR1, DARS2, MSTO1, WRAP53, FANCL, CARS2, PHIP, SH3TC2, IMPAD1, MKS1, NSUN2, BCOR, UGT1A1, LZTFL1, NDUFB11, USB1, RTEL1, OTUD6B, LIPT1, MBTPS2, DACT1, WAC, TACO1, TRAPPC12, NDUFA13, WDPCP, GMNN, TPRKB, SOST, TBX22, RFWD3, BBS7, FANCI, HYMAI, PORCN, NMNAT1, EPS8L2, NXN, SLC39A8, PIEZO2, ALOXE3, NDUFAF5, GBA2, FANCM, ARID1B, NUP107, RPGRIP1, COQ8A, NOP10, MRPS22, TWNK, CCDC28B, KLHL7, NDUFA12, VPS11, SPATA7, MCTP2, VAC14, NHP2, PIGV, SLC52A2, FOXRED1, RRM2B, PALB2, NDRG1, NARS2, CTC1, CRB1, SURF1, PLXND1, POGZ, TRIM32, P2RX2, DHX30, MORC2, NTNG1, PUF60, EXOSC8, POLG2, POLR3A, PRDM5, IFT27, SLC19A3, SDCCAG8, CDT1, RAI1, YME1L1, EBP, STAMBP, BRIP1, POMT1, COLEC10, NOP56, SEC23B, MAD2L2, SPIDR, KAT6B, CDK20, IFT172, PYCR2, PSMC3IP, SNX10, ANKRD11, UBE2T, NDUFAF4, BBS10, PCLO, PGAP2, BBS9, INTU, EHMT1, TINF2, ABCA12, WBP2, ZBTB20, CNTNAP2, DNAH1, SIN3A, NDUFAF3, ANAPC15, L2HGDH, RAB3GAP2, AIPL1, KCNE5, DCAF17, ORC6, LEMD3, TAF1, TTR, ABCC8, GCK, GBA, ARID2, FLCN, GALNS, GALC, GAA, FZD2, KDSR, FUCA1, NR5A1, FSHR, FXN, FMR1, CERS3, FLNA, FOXG1, FGFR2, FGFR1, GPC4, FDXR, FANCF, FANCB, ACSL4, FANCE, FANCD2, RNASEH1, NALCN, ERCC5, ERCC4, GCH1, GJA1, STXBP1, GPC3, ITGB6, PDX1, INS, IMPDH1, BEAN1, SIX5, IFRD1, IDUA, IDS, TNC, HSPD1, HNRNPK, HNF4A, HIVEP1, HEXA, HCCS, HBB, HARS1, GUCY2D, C8orf37, BBS12, LCA5, GSN, ASXL1, GNS, GNAS, GNAI3, GLI3, GLB1, ERCC3, ERCC2, EP300, EDNRB, PTPRQ, RUNX2, PCARE, CACNA1D, BUB1B, BUB1, BTK, BRCA2, BRAF, BRCA1, BCS1L, BBS4, BBS2, BBS1, GDF6, ASPA, ARSL, C10orf105, ALG11, APC, SLC25A4, ALOX12B, ABCD1, AKT1, AK2, AHSG, PET100, KLLN, ACVR1, NDUFS7, CDC6, CHD4, CRX, EDN3, ECHS1, DVL3, DVL1, ATN1, SUMF1, DKC1, DHCR7, PNPLA1, SLC26A4-AS1, DDX11, DDX3X, CTNNB1, CREBBP, NIPAL4, COX15, COX7B, RD3, COL10A1, ZFP57, COL7A1, COL4A6, COL4A3, COL1A2, COL1A1, CLCN7, AP1S1, CKMT1B, KARS1, KCNC3, TTC8, RET, SMIM12, COLEC11, RAD51, PTH1R, NLRP3, PTEN, MASP1, GPRASP2, PRKAR1A, PPP1CB, CTSA, POLR2F, POLG, NUS1, PLCB4, PLAGL1, PIK3CA, PIK3C2A, PIGA, TWIST2, PHEX, ATP8B1, PEX13, PEX6, PEX1, PEPD, PDHA1, PDE9A, PDE4D, DPF2, REV3L, PCYT1A, CHST14, CDKL5, STAT3, SRY, SRP72, SOX11, SOX9, SOX4, SOX2, SON, SMARCE1, SMARCC2, SMARCB1, SMARCA4, SNAI2, RFT1, NDUFAF2, COG7, SGSH, SDHD, SDHC, SDHB, SDHA, BBIP1, G6PC3, SC5D, SALL1, DTD1, RPL11, RPE65, PDE1C, RAD51C, KCNJ11, SMAD4, MYCN, TRNL1, MTHFD1, ATP8, BBS5, VPS37A, NDUFAF6, MITF, MGP, HGSNAT, MEOX1, MECP2, MAF, B3GLCT, PAX2, LRP5, LRP4, RDH12, LMX1B, LMNB1, LIG4, LHX1, LETM1, KRAS, KIT, KIF5A, KCNQ1, KCNJ13, MYD88, MYH3, NDUFV1, TNFRSF11B, OAT, ROR2, ORC1, NPHP1, NOTCH2, NFIX, MTFMT, NDUFV2, NDUFS8, NDUFS4, NDUFS3, NDUFS2, NDUFS1, NDUFB8, NDUFA10, ORC4, NDUFA9, NDUFA4, NDUFA2, PARN, NAGLU, NAGA, RNR1, MYO6, MYH9, OPA1, MYH6, NT5E, MYH14, COX1, KCNJ10, NAT2, GSTM1, GATA3, IGF1, ADA, ADCY1, CD226, ACE, UCN, MTHFR, S1PR2, ATP2B2, TRS-AGA2-3, GRM7, CRP, F11, ETS1, TRPV4, EPO, FABP2, SLC26A3, SLC26A11, RSPO1, DFNA47, GATA2, FCGR1A, FOXO3, FLI1, FLNC, DMD, PTCRA, DFNB33, GSTM3, GSTP1, GSTT1, HOXA1, IDH2, SH2D6, CYP2A6, DFNA16, DFNA7, DFNB71, ADCYAP1, DFNB55, ALB, DFNB47, DFNB45, BIRC5, ARL2, MIR34A, CHCHD10, BAK1, BCL2, CALCA, CAPG, CD5L, CD40LG, CD69, GJC3, CKB, COL9A3, COL11A1, DFNB38, DFNA49, KLKB1, DFNX3, IL1B, MET, LRP2, LY6E, UCP1, UROD, BEST1, CD164, ADIPOQ, FHL5, BAG3, SNAP91, PDLIM5, GIPC1, EHD1, SIRT1, BACE1, DFNA24, PDZD7, MTO1, EHF, HPGDS, REM1, EHD4, EHD3, EHD2, TSPEAR, MCPH1, THG1L, FKBP14, POMGNT1, ACTB, TPO, TGFB3, PRKCG, ANKH, ATXN3, MSX1, MTAP, ND4, MTR, TRNS1, NEFL, PAX9, SERPINA1, PLOD1, PLS1, PTGDS, DFNA18, RASA1, ROM1, SERHL, ACSM3, ATXN2, SCD, SKP1, SLC6A11, SLC6A13, SKP1P1, SLC25A21, TGFA, ERICD
-
Supranuclear Palsy, Progressive, 1
OMIM
Neuroradiologic Studies Piccini et al. (2001) studied regional cerebral dopaminergic function and glucose metabolism in members of 2 large kindreds with familial PSP in an effort to identify subclinical cases. ... Clinical Variability Nicholl et al. (2003) described a form of PSP characterized by fatal respiratory hypoventilation in 2 sibs from a consanguineous marriage. ... Pathogenesis Van Leeuwen et al. (2006) detected aberrant frameshifted proteins, APP+1 (APP; 104760) and UBB+1 (UBB; 191339), within the neuropathologic hallmarks of Alzheimer disease (AD; 104300) and other MAPT-related dementias, including Pick disease, progressive supranuclear palsy, and less commonly frontotemporal dementia. Van Leeuwen et al. (2006) postulated that accumulation of APP+1 and UBB+1, which represents defective proteasome function, contributes to various forms of dementia. ... The presence of affected members in at least 2 generations in 8 of the 12 families reported by Rojo et al. (1999) and the absence of consanguinity suggested autosomal dominant transmission with incomplete penetrance.MAPT, STX6, MOBP, EIF2AK3, SRSF2, TRA2B, SLCO1A2, TRIM11, SP1, PSPH, REG1A, SNCA, RIDA, STXBP3, MSMB, PSPN, TPO, CD8B, ASAP1, RUNX2, BPIFA2, PIK3C2G, IRF4, APOE, SLC6A3, TARDBP, LRRK2, NEFL, SOD1, CIT, C9orf72, CSF2, MAOB, GRN, LAMC2, DCTN1, STH, SMUG1, PRKN, UBB, PYCARD, NPC1, APP, TYMS, CRHR1, TH, TGM2, SLC25A38, ATXN2, GFAP, IGLON5, CST3, NPEPPS, VEGFA, RAB35, YWHAE, OGA, CXCR4, PICALM, NPC2, SNCAIP, BSN, MAP3K14, OPN1MW3, DUSP10, ARL17B, ROCK2, SCRN1, MAP4K4, NF1P1, UNC13A, DNAJB1P1, FLAD1, UBASH3B, SPECC1, FOXP2, RMDN2, ASXL1, MCIDAS, SETX, MIR132, MIR518E, GGTLC5P, GGTLC3, GGT2, OPN1MW2, CTNNBL1, SYBU, PSPC1, RMDN3, LRRC37A4P, TET2, TMEM106B, TREM2, LCMT1, PPME1, RMDN1, GGTLC4P, PSAT1, TBK1, CSDC2, LMOD1, SF3B1, MINK1, NAT1, TPI1, OPN1MW, FMR1, MTOR, FUS, GABPA, GABRG2, GBA, GGT1, EGFR, GLDC, GSTM1, NRG1, HSPA4, DNAJB1, IFNG, ERBB4, DLX1, IGFALS, CASP3, AP2A2, ANXA6, KLK3, BDNF, BNIP1, BRCA1, CBS, ACE, CDK5, CHI3L1, CLU, CRP, CTSS, CYP2D6, IGF1, IL2, TP53BP1, MAP2K4, PSEN2, PTEN, PTPRC, RAPSN, ROCK1, ATXN8OS, NAT2, PROS1, SPOCK1, SPP1, TCOF1, TGFB1, TGM1, TNF, PSEN1, PRNP, IL6, NR4A2, IRS1, MUSK, NFE2L2, NGF, NOS1, NSF, PAEP, PTPA, PAFAH1B1, PDK1, PIN1, PLAG1, PLCG2, PLXNA2, ATXN2-AS
-
Familial Renal Amyloidosis
Wikipedia
Familial renal amyloidosis Other names Familial visceral amyloidosis, hereditary amyloid nephropathy This condition is inherited in an autosomal dominant manner Specialty Nephrology Familial renal amyloidosis is a form of amyloidosis primarily presenting in the kidney . [1] It is associated most commonly with congenital mutations in the fibrinogen alpha chain and classified as a dysfibrinogenemia (see Hereditary Fibrinogen Aα-Chain Amyloidosis ). [2] [3] and, less commonly, with congenital mutations in apolipoprotein A1 [4] and lysozyme . [5] [6] It is also known as "Ostertag" type, after B. ... Journal of the American Society of Nephrology . 20 (2): 444–51. doi : 10.1681/ASN.2008060614 . ... "Underdiagnosed amyloidosis: amyloidosis of lysozyme variant". Am. J. Med . 118 (3): 321–2. doi : 10.1016/j.amjmed.2004.10.022 . ... External links [ edit ] Classification D ICD - 10 : E85.0 ICD - 9-CM : 277.3 OMIM : 105200 MeSH : C538249 DiseasesDB : 33335 External resources eMedicine : med/3379 v t e Amyloidosis Common amyloid forming proteins AA ATTR Aβ2M AL Aβ / APP AIAPP ACal APro AANF ACys ABri Systemic amyloidosis AL amyloidosis AA amyloidosis Aβ2M/Haemodialysis-associated AGel/Finnish type AA/Familial Mediterranean fever ATTR/Transthyretin-related hereditary Organ-limited amyloidosis Heart AANF/Isolated atrial Brain Familial amyloid neuropathy ACys+ABri/Cerebral amyloid angiopathy Aβ/Alzheimer's disease Kidney AApoA1+AFib+ALys/Familial renal Skin Primary cutaneous amyloidosis Amyloid purpura Endocrine Thyroid ACal/Medullary thyroid cancer Pituitary APro/Prolactinoma Pancreas AIAPP/Insulinoma AIAPP/Diabetes mellitus type 2 v t e Disease of the kidney glomerules Primarily nephrotic Non-proliferative Minimal change Focal segmental Membranous Proliferative Mesangial proliferative Endocapillary proliferative Membranoproliferative/mesangiocapillary By condition Diabetic Amyloidosis Primarily nephritic , RPG Type I RPG / Type II hypersensitivity Goodpasture syndrome Type II RPG / Type III hypersensitivity Post-streptococcal Lupus diffuse proliferative IgA Type III RPG / Pauci-immune Granulomatosis with polyangiitis Microscopic polyangiitis Eosinophilic granulomatosis with polyangiitis General glomerulonephritis glomerulonephrosis v t e Inborn error of lipid metabolism : dyslipidemia Hyperlipidemia Hypercholesterolemia / Hypertriglyceridemia Lipoprotein lipase deficiency/Type Ia Familial apoprotein CII deficiency/Type Ib Familial hypercholesterolemia/Type IIa Combined hyperlipidemia/Type IIb Familial dysbetalipoproteinemia/Type III Familial hypertriglyceridemia/Type IV Xanthoma/Xanthomatosis Hypolipoproteinemia Hypoalphalipoproteinemia/HDL Lecithin cholesterol acyltransferase deficiency Tangier disease Hypobetalipoproteinemia/LDL Abetalipoproteinemia Apolipoprotein B deficiency Chylomicron retention disease Lipodystrophy Barraquer–Simons syndrome Other Lipomatosis Adiposis dolorosa Lipoid proteinosis APOA1 familial renal amyloidosis This article about a disease , disorder, or medical condition is a stub .
-
Polyphagia
Wikipedia
It is frequently a result of abnormal blood glucose levels (both hyperglycemia and hypoglycemia ), and, along with polydipsia and polyuria , it is one of the "3 Ps" commonly associated with diabetes mellitus . [2] [3] Contents 1 Etymology and pronunciation 2 Underlying conditions and possible causes 3 Polyphagia in diabetes 4 See also 5 References 6 External links Etymology and pronunciation [ edit ] The word polyphagia ( / ˌ p ɒ l i ˈ f eɪ dʒ i ə / ) uses combining forms of poly- + -phagia , from the Greek words πολύς (polys), "very much" or "many", and φαγῶ (phago), "eating" or "devouring". ... As a symptom of Kleine–Levin syndrome , it is sometimes termed megaphagia. [4] Knocking out vagal nerve receptors has been shown to cause hyperphagia. [5] According to the National Center for Biomedical Information, polyphagia is found in the following conditions: [6] Chromosome 22q13 duplication syndrome Chromosome Xq26.3 duplication syndrome Congenital generalized lipodystrophy type 1 Congenital generalized lipodystrophy type 2 Diabetes mellitus type 1 Familial renal glucosuria Frontotemporal dementia Frontotemporal dementia , ubiquitin -positive Graves' disease Hypotonia - cystinuria syndrome Kleine-Levin syndrome Leptin deficiency or dysfunction Leptin receptor deficiency Luscan-lumish syndrome Macrosomia adiposa congenita Mental retardation, autosomal dominant 1 Obesity, hyperphagia, and developmental delay (OBHD) Pick's disease Prader-Willi syndrome Proopiomelanocortin deficiency Schaaf-yang syndrome Polyphagia in diabetes [ edit ] Diabetes mellitus causes a disruption in the body's ability to transfer glucose from food into energy. ... Polyphagia usually occurs early in the course of diabetic ketoacidosis . [7] However, once insulin deficiency becomes more severe and ketoacidosis develops, appetite is suppressed. [8] See also [ edit ] Anorexia Binge eating Charles Domery Compulsive overeating Counterregulatory eating Eating disorder Effects of cannabis Erysichthon of Thessaly Hedonic hunger Tarrare References [ edit ] ^ https://hpo.jax.org/app/browse/term/HP:0002591 ^ Diabetes.co.uk ^ Healthline.com article "What are the 3 Ps of Diabetes?"
-
Equine Protozoal Myeloencephalitis
Wikipedia
Journal of Veterinary Internal Medicine . 30 (2): 491–502. doi : 10.1111/jvim.13834 . ... "SnSAG5 is an alternative surface antigen of Sarcocystis neurona strains that is mutually exclusive to SnSAG1". Veterinary Parasitology . 158 (1–2): 36–43. doi : 10.1016/j.vetpar.2008.08.012 . ... Journal of Parasitology . 92 (3): 637–643. doi : 10.1645/0022-3395(2006)92[637:PAOPRC]2.0.CO;2 . ^ Ellison, Siobhan P.; Lindsay, David S. (2012). ... P., Greiner, E., Brown, K K., Kennedy, T. 2, 2004, J App Res Vet Med, Vol.2, pp. 79–89. ... Marsh AE, Johnson PJ, Ramos-Vara J, Johnson GC. 2–4, Feb 2001, Vet Parasitol, Vol. 95, pp. 143–54.
-
Relationship Obsessive–compulsive Disorder
Wikipedia
The fact that they are unable to concentrate on anything but their partner's flaws causes the sufferer great anxiety, and often leads to a strained relationship. [3] Recent investigations suggest partner-focused ROCD symptoms may also occur in the parent-child context. [2] In such cases, parents may be overwhelmed by preoccupations that their child is not socially competent, good looking, moral or emotionally balanced enough. ... Journal of Obsessive-Compulsive and Related Disorders . 3 (2): 169–180. doi : 10.1016/j.jocrd.2013.12.005 . ^ a b c Doron, Guy; Derby, Danny; Szepsenwol, Ohad; Nahaloni, Elad; Moulding, Richard (2016). ... "Can Brief, Daily Training Using a Mobile App Help Change Maladaptive Beliefs? Crossover Randomized Controlled Trial" . JMIR mHealth and uHealth . 7 (2): e11443. doi : 10.2196/11443 . PMC 6391643 . ... "Assisting relapse prevention in OCD using a novel mobile app–based intervention: A case report".
-
Human Genetic Enhancement
Wikipedia
These genetic enhancements may or may not be done in such a way that the change is heritable (which has raised concerns within the scientific community. [2] Contents 1 Gene therapy 2 Disease prevention 3 Gene doping 4 Other uses 4.1 Physical appearance 4.2 Behavior 5 See also 6 References Gene therapy [ edit ] Further information: Gene therapy Genetic modification in order to cure genetic diseases is referred to as gene therapy . ... "Current anti-doping policy: a critical appraisal" . BMC Medical Ethics . 8 (1): 2. doi : 10.1186/1472-6939-8-2 . PMC 1851967 . ... "Reversal of Depressed Behaviors by p11 Gene Therapy in the Nucleus Accumbens" . Science Translational Medicine . 2 (54): 54ra76. doi : 10.1126/scitranslmed.3001079 . ... "Long-term neprilysin gene transfer is associated with reduced levels of intracellular Abeta and behavioral improvement in APP transgenic mice" . BMC Neuroscience . 9 : 109. doi : 10.1186/1471-2202-9-109 . ... "Adeno-associated Viral (AAV) Serotype 5 Vector Mediated Gene Delivery of Endothelin-converting Enzyme Reduces Aβ Deposits in APP + PS1 Transgenic Mice" . Molecular Therapy . 16 (9): 1580–1586. doi : 10.1038/mt.2008.148 .
-
Familial Amyloid Cardiomyopathy
Wikipedia
Familial amyloid cardiomyopathy Specialty Cardiology Familial amyloid cardiomyopathy (FAC), or transthyretin amyloid cardiomyopathy (ATTR-CM) results from the aggregation and deposition of mutant and wild-type transthyretin (TTR) protein in the heart. [1] TTR amyloid fibrils infiltrate the myocardium , leading to diastolic dysfunction from restrictive cardiomyopathy, and eventual heart failure. [2] Both mutant and wild-type transthyretin comprise the aggregates because the TTR blood protein is a tetramer composed of mutant and wild-type TTR subunits in heterozygotes . ... FAC is clinically similar to senile systemic amyloidosis , [3] in which cardiomyopathy results from the aggregation of wild-type transthyretin exclusively. [4] [5] Contents 1 Presentation 2 Diagnosis 3 Management 4 See also 5 References Presentation [ edit ] The onset of FAC caused by aggregation of the V122I mutation and wild-type TTR, and senile systemic amyloidosis caused by the exclusive aggregation of wild-type TTR, typically occur after age 60. ... Med. 363, 1464-1470. v t e Amyloidosis Common amyloid forming proteins AA ATTR Aβ2M AL Aβ / APP AIAPP ACal APro AANF ACys ABri Systemic amyloidosis AL amyloidosis AA amyloidosis Aβ2M/Haemodialysis-associated AGel/Finnish type AA/Familial Mediterranean fever ATTR/Transthyretin-related hereditary Organ-limited amyloidosis Heart AANF/Isolated atrial Brain Familial amyloid neuropathy ACys+ABri/Cerebral amyloid angiopathy Aβ/Alzheimer's disease Kidney AApoA1+AFib+ALys/Familial renal Skin Primary cutaneous amyloidosis Amyloid purpura Endocrine Thyroid ACal/Medullary thyroid cancer Pituitary APro/Prolactinoma Pancreas AIAPP/Insulinoma AIAPP/Diabetes mellitus type 2
-
Arteriogenesis
Wikipedia
Please help to improve this article by introducing more precise citations. ( May 2019 ) ( Learn how and when to remove this template message ) Arteriogenesis refers to an increase in the diameter of existing arterial vessels. Contents 1 Mechanical Stimulation 2 Chemical Stimulation 2.1 General 2.2 bFGF 2.3 CCL2 3 Applications of Arteriogenesis 3.1 Exercise 3.2 Atherosclerosis 4 See also 5 References 6 Sources Mechanical Stimulation [ edit ] Mechanically, arteriogenesis is linked to elevated pressure, which increases radial wall stress, and elevated flow, which increases endothelial surface stress. ... What makes vessels grow with exercise training? J App Physiol 97: 1119-28, 2004. Tronc F, Wassef M, Exposito B, Henrion D, Glagov S, and Tedgui A.
-
Al Amyloidosis
Wikipedia
These light chains come together to form amyloid deposits which can cause serious damage to different organs. [2] [3] Abnormal light chains in urine are sometimes referred to as " Bence Jones protein ". Contents 1 Signs and symptoms 2 Causes 3 Diagnosis 4 Treatment 5 Prognosis 6 Epidemiology 7 See also 8 References 9 External links Signs and symptoms [ edit ] AL amyloidosis can affect a wide range of organs, and consequently present with a range of symptoms. ... External links [ edit ] Classification D ICD - 10 : E85 ICD - 9-CM : 277.3 OMIM : 254500 MeSH : C531616 DiseasesDB : 315 External resources MedlinePlus : 000533 eMedicine : med/3363 v t e Amyloidosis Common amyloid forming proteins AA ATTR Aβ2M AL Aβ / APP AIAPP ACal APro AANF ACys ABri Systemic amyloidosis AL amyloidosis AA amyloidosis Aβ2M/Haemodialysis-associated AGel/Finnish type AA/Familial Mediterranean fever ATTR/Transthyretin-related hereditary Organ-limited amyloidosis Heart AANF/Isolated atrial Brain Familial amyloid neuropathy ACys+ABri/Cerebral amyloid angiopathy Aβ/Alzheimer's disease Kidney AApoA1+AFib+ALys/Familial renal Skin Primary cutaneous amyloidosis Amyloid purpura Endocrine Thyroid ACal/Medullary thyroid cancer Pituitary APro/Prolactinoma Pancreas AIAPP/Insulinoma AIAPP/Diabetes mellitus type 2 v t e Immunoproliferative immunoglobulin disorders PCDs / PP Plasmacytoma Multiple myeloma ( Plasma cell leukemia ) MGUS IgM ( Macroglobulinemia / Waldenström's macroglobulinemia ) heavy chain ( Heavy chain disease ) light chain ( Primary amyloidosis ) Other hypergammaglobulinemia CryoglobulinemiaCCND1, LINC02343, CBX7, LINC00457, SMARCD3, TTR, DNAH11, CD38, SCT, GDF15, NPPB, SPP1, IGKV2-29, MIR34A, SMN1, SMN2, ST2, TNF, BMS1P20, KRT20, IGKV1-8, BABAM2, GLIPR1, WDHD1, MAGEC2, SLC1A4, PLXNB2, IGKV3D-15, IGKV1D-8, IGKV3-20, PRAME, ALB, SDC1, FGA, BCR, PRDM1, CAT, MS4A1, CDA, CDH1, CRP, CSF3, CYP1B1, DDT, ETFA, GSN, FAS, IGKV@, LGALS3, LGALS4, MDK, MMP1, MMP2, MUC1, MYD88, NCAM1, PFDN5, RPS27A, SAA1
