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Desmoid Tumors Mayo_clinic

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APC, CTNNB1, TNF, BMPR1A, GREM1, FAP, KIT, COX2, PTGS2, TP53, TGFB1, MCM5, CCN4, SERPINE1, MTCO2P12, SAMD9, CCND1, TCF3, AR, TG, TFE3, TCF20, TWIST1, VEGFA, WT1, ZIC1, SYK, REEP5, NR1I3, AXIN2, MSC, CXADRP1, MIR21, ZIC4, TCF7L1, COL18A1, CTNNBIP1, INTS13, ANO1, LEF1, CD274, CTNNA3, BAMBI, POSTN, TRIM13, SPG7, STAT6, AKT1, SOAT1, S100A4, ESR2, ESR1, EPHB3, EPHA4, ELN, CXADR, CTNNA1, CCN2, CSF1, CASR, BRAF, BCL6, BCL2, ARR3, BIRC3, EYA2, GNAZ, KDR, PDGFA, RET, PTPRF, PITX2, PECAM1, PDGFRB, PDGFB, PCNA, LYN, OAS1, ROR2, MMP7, MITF, MDK, MCM2, PRKAR1A
- Desmoid Tumor Orphanet
  
  A desmoid tumor (DT) is a benign, locally invasive soft tissue tumor associated with a high recurrence rate but with no metastatic potential. Epidemiology DTs account for < 3% of soft tissue tumors. Their annual incidence is estimated to range between 1/250,000-1/500,000. They predominantly affect women and can occur between the ages of 15-60 years, but frequently during early adolescence and with a peak age of about 30 years. Clinical description In principle, DTs can occur in any part of the body: extra-abdominally (neck, shoulders, upper limbs, gluteal region), abdominally (originating from muscle fascia or the abdominal/chest wall), and more rarely intra-abdominally in the mesentery or retroperitoneum. Usually, they are firm and smooth palpable masses upon discovery. Depending on the location of the tumor, symptoms may include pain, fever, and functional impairment or loss of function of the organ involved.
- Aggressive Fibromatosis Wikipedia
  
  This article needs more medical references for verification or relies too heavily on primary sources . Please review the contents of the article and add the appropriate references if you can. Unsourced or poorly sourced material may be challenged and removed . Find sources: "Aggressive fibromatosis" – news · newspapers · books · scholar · JSTOR ( March 2018 ) Aggressive fibromatosis Desmoid tumor as seen on CT scan Specialty Oncology Aggressive fibromatosis is a rare condition marked by the presence of desmoid tumors . Desmoid tumors arise from cells called fibroblasts , which are found throughout the body and provide structural support, protection to the vital organs, and play a critical role in wound healing. These tumors tend to occur in women in their thirties, but can occur in anyone at any age.
- Desmoid Disease, Hereditary Omim
  
  Description Hereditary desmoid disease usually presents as an extraintestinal manifestation of familial adenomatous polyposis (FAP; 175100), also known as Gardner syndrome, which is an autosomal dominant disorder caused by germline mutation in the APC gene. ... Halling et al. (1999) identified a truncating mutation in the APC gene (611731.0040) in affected members of an Amish family with autosomal dominant desmoid disease. In a large French-Canadian kindred with a hereditary desmoid disease, Couture et al. (2000) identified a heterozygous mutation in the APC gene (611731.0045). ... Predisposed to colon cancer GI - Infiltrative fibromatosis of mesentery Inheritance - Autosomal dominant ▲ Close
Haltlose Personality Disorder Wikipedia

M Divac-Jovanovic suggested the ICD-10 explanations of Haltlose, Immature and Psychoneurotic personality disorders appeared "dubious", [73] and sociologist James Cosgrave found psychiatric use to represent a "fringe figure". [74] A graduate student at Bochumer Stadt & Studierendenzeitung condemned the historical diagnosis from an LGBT perspective, opining that "incredibly oppressive language" had been used by the psychiatrists studying it such as "pathological femininity". [75] It may be that the evolution of test-batteries have minimized diagnoses of Haltlosen, differentiating it from some newer models in psychiatry. [16] Physiology [ edit ] Outburst of a Haltlose patient in German, expressing life is hardly worth living since as "war-horses" the Haltlosen suffer from society's efforts to tame them - and he will seek vengeace on the city. [24] Described as bearing a "pronounced heredity burden", [76] the propensity for Haltlose has also been suggested to be passed only through the maternal genes. [12] Only [ dubious – discuss ] able to offer "primitive reactions" [77] [ page needed ] and "poor and immature judgement", [48] [78] they are noted to display an absolute lack of purpose in their lives "except for the simple biological need to continue living". [79] [ year needed ] Gustav von Bergmann , a specialist in internal medicine rather than psychiatry , wrote in 1936 that Haltlose personality disorder was entirely biological rather than fostered through psychological experiences. [80] Indeed, Dr. ... In one hour, they are happy and excited with the whole world lying open for them in the splendor of the joy of life, but the next hour casts aside this optimism and the future now seems bleak, gray on gray...sympathies and antipathies quickly replace each other, what was worshipped yesterday is burned today, and despite all oaths of eternal loyalty, the best friend is transformed into the deeply-loathed enemy overnight." — Dr. ... These are people who are attracted to the Orient on account of the ease with which they are able to live there without steady employment and the freedom from closer supervision of the Western civilization" in 1917. [27] Kraepelin said they were "apt to take senseless journeys, perhaps even becoming vagabonds". [48] [78] Kraepelin argued only lifelong wanderlust was tied to Haltlose, whereas Kahn argued that the Haltlose often lost their wanderlust as they aged and preferred to settle into mediocrity. [62] Some make their fortune, but the disappearance of less fortunate travelers is not mentioned by their families who considered them to have been burdensome. [97] To early twentieth-century researchers, they appeared amiable, well-spoken, self-confident and to be making strong efforts to improve their weaknesses, thus making a misleading first impression and endearing themselves to superiors. [97] The lack of a sense of identity, or internal support, was thought to a lack of resistance to both external and internal impulses in 1927. [9] Their "gradual deterioration in the swamp of neediness and immorality" still does not make a lasting impression on the patients. [24] Thus Haltlose patients who recognize their shortcomings were thought to possibly be overwhelmed by a subconscious fear about participating in the world without restraints in a 1924 account. [19] Similarly, researchers in the early twentieth-century believed that the inauthenticity of their projected self and superficiality of knowledge means that when "someone who is really superior to [them]", after a period of stiffly asserting themselves hoping to avoid submission, will ultimately and without explanation fully embrace the position of the other. [97] Pathological lying is closely linked to Haltlose personality disorder, with Arthur Kielholz noting "They lie like children...this activity always remains just a game which never satisfies them and leaves them with a guilty conscious because neither the super ego nor the Id get their due...Since they are offering such a daydream as a gift, they consider themselves entitled to extract some symbolic gift in return through fraud or theft". [76] [ year needed ] Adler maintained "Memory is usually poor and untrustworthy...often they seem to have no realization of the truth", [27] while Homburger felt they held "no sense of objectivity, no need for truth or consistency". [97] According to early accounts, choices are made, often in mirroring others around them, but "do not leave even a passing imprint on the person's identity". [10] Thus, they can "behave properly for a while under good leadership", [9] and are not to be trusted in leadership positions themselves. [45] Gannushkin noted they must be urged, scolded or encouraged "with a stick, as they say". [56] They demonstrate poor mood control and "react quickly to immediate circumstances" since "mood variation can be extreme and fluctuate wildly", which led to the denotation "unstable psychopath". [112] They have been described as " cold-blooded " [46] and "undisciplined, inclined to ignore the obligations assigned....always needs a strong leader who will direct and show what needs to be done", [34] but must be differentiated from dependent personality disorder , as the two can appear similar, due to the artifice of the Haltlose patient, despite having starkly opposing foundations. [17] Persons with Dependent Personality Disorder are defined by a tendency to embarrassment, [113] and submissiveness [114] which are not genuine facets of those with Haltlose even if they mimic such. ... [his] principles lack natural strength and stand so haphazardly that, like a house of cards , they will collapse at the first touch with the temptations of life". [135] The commitment papers for an "Ida H ... "Varieties of Juvenile Delinquency", pp. 115, 158 and elsewhere ^ a b Elemente der Exakten Triebpsychiatrie, "Klinische Psychologie Experimentelle Syndromatik" , Page 190-191 ^ a b c d e f Aschenbrenner, Alfred (December 1944).
Cholestasis, Benign Recurrent Intrahepatic, 1 Omim

Onset in these patients was in the first 2 years of life. Cholestasis was demonstrated by liver biopsy and direct cholangiography. ... Four patients in 3 distantly related sibships, all with consanguineous parents, were described. Affected children first developed pruritus and icterus at ages ranging from 2 to 8 months. ... Houwen et al. (1994) suggested that this was the first example of the use of LD mapping for assignment of a locus that had not previously been mapped. ... In contrast, the search for shared segments treats each chromosome separately and thus is feasible for dominant as well as recessive disorders. ... Both males and females were affected in 2 successive generations and in 4 separate sibships with male-to-male transmission, suggesting autosomal dominant inheritance. Linkage studies excluded 18q and 2q24 where autosomal recessive BRIC1 and BRIC2 have been mapped, indicating genetic heterogeneity.

ATP8B1, ABCB11, GGTLC1, LOC102724197, GGT1, ABCB4, GGTLC5P, GGTLC3, GGT2, GGTLC4P
- Benign Recurrent Intrahepatic Cholestasis Orphanet
  
  Epidemiology The prevalence of BRIC is unknown. Clinical description The first cholestatic episode can occur at any age but onset within the first two decades of life is most common. ... Genetic counseling Both BRIC1 and BRIC2 are inherited in an autosomal recessive manner, although a BRIC family with seemingly autosomal dominant inheritance has been reported.
- Benign Recurrent Intrahepatic Cholestasis Gard
  
  Benign recurrent intrahepatic cholestasis (BRIC) is a rare condition that affects the liver. People with this condition experience episodes of cholestasis , during which the liver cells have a reduced ability to release bile (a digestive fluid). Episodes generally begin in the late teens or early twenties and may be accompanied by jaundice, severe itchiness, a vague feeling of discomfort (malaise), irritability, nausea, vomiting, and a lack of appetite. There are two forms of BRIC which are classified based on the genetic cause of the condition. BRIC1 is caused by changes (mutations) in the ATP8B1 gene and BRIC2 is caused by mutations in the ABCB11 gene.
Mecr-Related Neurologic Disorder Gene_reviews

Sequence analysis of MECR is performed first. If only one pathogenic variant is found, gene-targeted deletion/duplication analysis could be considered; however, to date no exon or whole-gene deletions have been reported. ... Variants may include small intragenic deletions/insertions and missense, nonsense, and splice site variants; typically, exon or whole-gene deletions/duplications are not detected. ... However, a history of hypotonia, increased laxity, and delayed motor development from the first year of life is possible. The motor disability gradually progresses; over time, some affected individuals require a walker or wheelchair for ambulation. ... Typically seen: Parkinsonism & neuropsychiatric abnormalities Brain iron accumulations & (in some cases) accompanying cerebral & cerebellar atrophy on MRI AD = autosomal dominant; AR = autosomal recessive; Mit = mitochondrial; MOI = mode of inheritance; XL = X-linked 1.
Fkbp14 Kyphoscoliotic Ehlers-Danlos Syndrome Gene_reviews

Sequence analysis of FKBP14 detects small intragenic deletions/insertions and missense, nonsense, and splice site variants; typically, exon or whole-gene deletions/duplications are not detected. Perform sequence analysis first. If only one or no pathogenic variant is found, perform gene-targeted deletion/duplication analysis to detect intragenic deletions or duplications. ... Pathogenic variants may include small intragenic deletions/insertions and missense, nonsense, and splice site variants; typically, exon or whole-gene deletions/duplications are not detected. ... Prevalence FKBP14 -kEDS is rare; the exact prevalence is unknown. From its first description in 2012, 30 individuals are known to the Authors at the time of review (2019). ... Disorders to Consider in the Differential Diagnosis of FKBP14 Kyphoscoliotic Ehlers-Danlos Syndrome View in own window Differential Diagnosis Disorder Gene(s) MOI Clinical Features of Differential Diagnosis Disorder Overlapping w/ FKBP14 -kEDS Distinguishing from FKBP14 -kEDS PLOD1 kyphoscoliotic EDS PLOD1 AR Congenital muscular hypotonia Congenital/early onset kyphoscoliosis Generalized joint hypermobility Absence of hearing impairment ↑ ratio of urinary pyridinolines Musculocontractural EDS (OMIM 601776, 615539) CHST14 DSE AR Joint hypermobility Characteristic craniofacial features Peculiar fingers (tapering, slender, cylindric) Collagen type VI-related disorders COL6A1 COL6A2 COL6A3 AD AR Congenital muscular hypotonia Progressive kyphoscoliosis Joint hypermobility Follicular hyperkeratosis Myopathy on muscle biopsy 1 Respiratory muscle failure Absence of skin hyperelasticity & easy bruising Absence of hearing impairment & cardiovascular problems Spondylodysplastic EDS (spEDS) (OMIM 130070, 612350, 615349) B4GALT7 B3GALT6 SLC39A13 AR Congenital muscular hypotonia Kyphoscoliosis ( B3GALT6 -spEDS) Joint hypermobility Pectus deformities Progressive short stature Primary skeletal involvement Dysplastic teeth Myopathic EDS (OMIM 616471) COL12A1 AD AR Congenital muscular hypotonia Motor developmental delay Soft, doughy skin Muscular atrophy Myopathy on muscle biopsy 1 Severe progressive scoliosis AD = autosomal dominant; AR = autosomal recessive; EDS = Ehlers-Danlos syndrome; MOI = mode of inheritance 1.
Global Aphasia Wikipedia

With some time and natural recovery, impairment presentation may progress into expressive aphasia (most commonly) or receptive aphasia. [2] [16] Due to the size and location of the lesion associated with global aphasia, the prognosis for language abilities is poor. [26] Research has shown that the prognosis of long-term language abilities is determined by the initial severity level of aphasia within the first four weeks after a stroke. [26] As a result, there is a poor prognosis for persons who retain a diagnosis of aphasia after one month due to limited initial language abilities. [2] [7] Nonetheless, in the first year post-stroke, patients with global aphasia showed improvement in their Western Aphasia Battery (WAB) scores from baseline. ... The rate of improvement in language function was highest in the first four weeks after stroke. [27] Although the prognosis for persons diagnosed with global aphasia is poor, improvement in varying aspects of language is possible. ... Behavioural Neurology . 2017 : 15 pages. CS1 maint: multiple names: authors list ( link ) ^ "Aphasia" . ... "The rate and extent of improvement with therapy from the different types of aphasia in the first year after stroke". Clinical Rehabilitation . 21 (10): 941–949. doi : 10.1177/0269215507078452 . ... "The rate and extent of improvement with therapy from the different types of aphasia in the first year after stroke". Clinical Rehabilitation . 21 (10): 941–949. doi : 10.1177/0269215507078452 .

L1CAM, PLAT
Abortion In Alabama Wikipedia

Wade ruling meant the state could no longer regulate abortion in the first trimester. [19] In August 2018, the dilation & evacuation (D & E) legislation passed by Texas and Alabama were working their way through the federal courts appeal process. [39] The Eleventh Circuit ruled the D&E legislation to be unconstitutional, blocking it from being enforced, and the Supreme Court of the United States denied to hear its appeal in its 2019 term. ... Markley is a Benedictine priest who was the Birmingham diocesan "Coordinator for Pro-Life Activities". Markley was convicted of first-degree criminal mischief and second-degree burglary. ... Wade : (a) For the stage prior to approximately the end of the first trimester, the abortion decision and its effectuation must be left to the medical judgement of the pregnant woman's attending physician. (b) For the stage subsequent to approximately the end of the first trimester, the State, in promoting its interest in the health of the mother, may, if it chooses, regulate the abortion procedure in ways that are reasonably related to maternal health. (c) For the stage subsequent to viability, the State in promoting its interest in the potentiality of human life may, if it chooses, regulate, and even proscribe, abortion except where it is necessary, in appropriate medical judgement, for the preservation of the life or health of the mother.
Type 1 Diabetes Mayo_clinic

Type 1 diabetes can appear at any age, but it appears at two noticeable peaks. The first peak occurs in children between 4 and 7 years old. ... Physical activity Everyone needs regular aerobic exercise, including people who have type 1 diabetes. First, get your provider's OK to exercise. ... The risk is higher when diabetes is poorly controlled during the first 6 to 8 weeks of pregnancy. Careful management of your diabetes during pregnancy can lower your risk of complications. ... If you're interested in a support group, your provider may be able to recommend one in your area. Or you can visit the websites of the American Diabetes Association (ADA) or the Juvenile Diabetes Research Foundation (JDRF). ... Once you begin insulin treatment, the first symptoms of diabetes should go away.

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ADA, PIK3CA, LPA, PIK3CG, PIK3CB, CD40, TIMP1, SOD1, CCL2, HSPA4, IDDM8, TLR2, IL7, SLC2A4, IL1RN, TXNIP, PTGS2, CD14, CCR2, ESR1, IL22, HIF1A, CTNNB1, GFAP, KIR2DS1, POMC, RENBP, FOXO1, TCF7, IDDM4, REG1A, DCN, OAS1, PPARG, CYBA, NLRP3, GC, KIR3DL2, TG, TNFSF11, CYP2R1, SERPINA1, LINC02605, ITGAM, C4B, GCGR, DEXI, KRT20, RCBTB1, SLC2A2, TLR3, AVP, CXCL8, SOX13, GOLGA6A, IL15, GDF5, IDDM13, HSP90AA1, MOK, SOST, MS4A1, IL23A, HSPD1, IDDM7, LCN2, CYP24A1, NUDT10, NLRP1, DMD, BEST1, SOCS1, MIR155, SLC14A1, MIR146A, TADA1, TNFRSF9, SNCA, CD80, MTHFR, NFKB1, RAPGEF5, SPP1, IRS1, FN1, LCK, CHRM3, PDLIM7, MBL3P, NPY, GZMB, LAD1, PTPRU, ACTB, SELE, HLA-DRB5, MIR21, HOTAIR, MAFD2, HSPA5, GSTM1, HLA-DRB4, TNFRSF1A, TNFRSF1B, HBA1, ADAMTS5, HLA-DRB3, TRPC6, IDDM6, IDDM3, WG, EGF, TXN, HLA-G, SLC25A3, IL12A, MIR222, MIR34A, THY1, FAS, FOXD3, HAVCR1, IL2RB, APCS, CSN2, HMGB1, GCLC, PTPRC, ACE2, GLO1, VTCN1, DBP, CREM, TJP1, TRAF6, TNFAIP3, FCRL3, CTSC, CHGA, CST3, CISH, COL9A3, CPE, MPO, SERPINE1, CAPSL, CD36, PLXNA2, PML, APC, ANXA1, ANPEP, AMD1P2, MAPK1, AMD1, S100B, ALOX15, C4B_2, RPL17, AHSG, RPL17-C18orf32, ADM, LOC102723407, PERCC1, MTCO2P12, PTH, SHBG, APP, MIR15A, STAT5B, CD34, CD86, TRB, CD19, NHS, HNF1B, CALD1, TBP, STAT5A, MIR126, C4A, TSPO, BTF3P11, BMP2, CXCR5, UCP2, BDNF, MIR125A, CIITA, HRAS, UMOD, HSPA14, SPATA2, IDO1, GDF15, MTOR, FOS, IRF1, IRF7, FOXM1, KL, CD163, TBX21, FCGR3B, NR1I2, HDAC3, KIR2DL2, IL18RAP, TNFRSF11A, ACAD8, IL9, PRPF31, IFNA2, HMOX1, HSPA1A, HPSE, PRSS16, HGF, IDDM11, IDDM15, DKK1, CBLIF, TAB2, GPX4, IGFBP1, IGFBP3, GPT, IGHG3, TPGS2, DLK1, IRF5, TRPV1, RETN, LRP5, IL17D, DPYD, MYDGF, EDNRA, ARNTL2, CELA1, LPL, MIR494, SIRT3, MIR375, USE1, NAMPT, FTO, XYLT1, IL18BP, SELP, GDE1, TNFAIP6, CD2AP, CCL5, ZAP70, MIR326, WDR11, DGCR2, NR1D2, ATP2C1, MIR210, SLC2A3, TSPAN7, TAF5L, CELA3A, CCL3, CCL4, MEPE, TNFSF13B, TRIB3, CXCR6, DEAF1, UPK3B, NFAT5, YAP1, TUBB4B, EBNA1BP2, PLAAT4, RBP4, LANCL1, TNFRSF4, MIR204, RGS1, CLIP2, LINC01672, SLC7A9, CLIP1, S100A12, RABEPK, DDX39A, YES1, SRL, NOD2, COBL, CHDH, HPGDS, MIR20A, NR4A3, ARMH1, SOCS3, PCSK9, SELENBP1, IL33, HFM1, TREM1, TAS2R13, CDK5R1, PROM1, TLR1, NRP1, IL18R1, TSPAN33, RASSF7, CDCA5, ADIPOR1, IDDM17, TGFBI, TP63, SLCO6A1, THBS1, CDR3, TLR8, ISYNA1, SIRT6, NOX4, CNDP1, TNFRSF13C, SOD3, TRBV20-1, TRBV16, MIR132, SLC22A3, SLC22A2, SLC22A4, TRBV7-9, MIR127, SOAT1, TRBC1, ZC3H12A, NCR1, SOX9, ZFP57, SLC19A3, CD101, TUG1, SPRR2A, UCP1, GSTK1, CCHCR1, SIAE, PLA2G7, MSC, IL32, ARHGEF2, ACKR3, H3P28, PTPN1, KLRD1, RUNX2, RUNX1, LBR, CD1D, RPSA, CD3E, CD4, CD27, ENTPD1, LRP1, CD59, KIR3DS1, FCGRT, KIR2DL3, KIR2DL1, KIF5A, KDR, JAK2, LPP, LRP6, CETP, MMP3, APOA1, NFKBIA, MYO9B, ATP4A, B2M, MNAT1, MMP13, MMP9, MMP1, MAP6, BCL2A1, BMP6, MIF, BTC, MEFV, CALCA, MCL1, CALCR, CDKN2A, ITGB7, P2RX7, GCHFR, HBA2, SARDH, DNTT, GPR183, EIF5A, ENG, ENPEP, GLA, ERN1, DHCR7, ESR2, EZH2, G6PC, FYN, GAST, FAT1, FBN1, FCGR3A, HCCS, DEFB1, CCR6, IFN1@, INPP5D, COL1A1, IL6R, IL3, IGH, IGFBP5, IGF1R, CSF2, IDE, HHEX, HSPG2, HSPA2, HSPA1B, HSD11B1, CYBB, CYP2E1, DDOST, DECR1, OXA1L, FCN2, PFKFB3, ADAM10, ACR, PROC, ALOX5, AMY2A, ACTN4, ALOX12, ADRB2, PPARA, ADORA1, PSMD7, AGTR2, AKT1, PCSK1, REG3A, PRKCSH, PRKCB, CUX1, SMOC1, UGDH-AS1, NQO1, CYP2D6, XYLT2, ADORA2A, DHPS, CYP7A1, CTSV, ROBO3, NSD1, CTSL, GORASP1, WDR13, DIAPH2, ERVK-6, GAS5, ADD1, KIR2DL5A, DES, GBA3, STIM2, ZNF410, CFAP97, DEFB4A, SEMA6A, ADD2, DEFA1, ADH5, ADCY3, AICDA, LGR6, LINC-ROR, DAXX, LOC102723971, CYP27A1, PLEKHA1, PLF, IPPK, CRK, CRYZ, FHOD3, AGA, PNPLA3, CRYGD, PDCD1LG2, CD276, CRYAB, AKT2, LINC00958, IL25, CREBBP, CR1, COL11A2, COL4A2, SPX, SETD7, COL2A1, TXNDC5, CNR1, KLRC4-KLRK1, POF1B, PIP4K2C, CSF3, PINK1, DLAT, ERVK-15, UBE2Z, PARP1, GGCT, CTSG, CTSB, ADRA1A, CTRL, OR5H5P, MUL1, ADIPOR2, CCN2, NLRX1, VCAN, ADRA2B, CSK, SUV39H2, WNK1, U2AF1L5, PELI1, PCBP4, F2R, F2, ARID4B, ADA2, RN7SL263P, ETS1, DUOX1, TLR9, ERRFI1, TREM2, ETFA, ESRRA, ABL1, APBB1IP, ESD, DDIT4, CST12P, ERG, LOC105379528, TET2, ERCC1, ABCA1, DINOL, F2RL1, PTK2B, TNDM1, FCGR1B, FCGR1A, FCER2, AAVS1, NDUFA13, ERVK-32, FASN, RMDN1, TUBE1, LARS1, ACSL1, CRBN, FABP2, TLR7, FABP1, KLRF1, CSAD, FABP4, NELFCD, TRPM7, ASPN, ELP6, TOR1A, CNDP2, CSGALNACT1, IL26, ADCY10, PAG1, SELENOS, S1PR1, LMO3, ANGPTL8, DSPP, SYBU, SLC26A3, SLC2A9, PANX2, DPYS, NMUR2, LOC102724971, DNAH8, PRDM10, IDDM18, EDN1, STAP2, CASZ1, QRSL1, SARS2, EPO, BANK1, EPHB4, SLC52A1, MTPAP, RMDN3, ACTG1, KIRREL1, ENO2, MIOX, GIMAP4, ACTG2, ELF3, ELAVL2, EIF4E, EFNA1, EEF2, IL17RB, PLXNA3, ABCC2, CCR8, FAM167A, LTB4R, LOC390714, BLK, BCR, TNFRSF17, MIR487A, MIR486-1, ANXA11, BCAT1, MIR432, BAK1, BAD, MIR202, MIR409, SCGB1D4, CIMT, MIRLET7G, BAAT, ATP7A, MIR130B, ATP6V1E1, MIR136, C1QTNF8, MAFA, POTEM, CA5A, MIR449B, STPG4, SLC9C1, RNF180, SLC25A20, CELIAC2, MMAB, C1QTNF9, DDR1, VWA2, RTL1, CA2, ACTBL2, VPS51, H3P44, C3, NCF1, BRS3, ANXA5, THEMIS, MIR141, MIR142, MIR143, AQP7, MIR27A, MIR29A, MIR30D, MIR31, AQP9, MIR34C, MIR93, MIR96, MIR17HG, AQP3, MIR221, PSG8, APRT, POTEKP, APOA4, OR14J1, ANXA13, MIR328, AOC2, MIR338, AR, MIR216A, MIR145, MIR15B, KIR2DL5B, MIR148A, MIR149, MIR424, MIR150, MIR152, MIR154, ATIC, ATF3, MIR17, ARG2, MIR192, MIR377, MIR193A, MIR195, MIR197, ATD, SERPINC1, MIR206, ARNTL, LYPD5, MIR573, GSDMA, CDK2, CEACAM5, CDX2, CD52, CDKN2B, DEFB4B, KIR3DL3, CDKN1B, APOA5, LEAP2, TAGAP, MIR3150A, CDH13, CDC25C, LRBA, ADAD1, CD74, MIR1225, TRAP, KIR2DS2, SOD2-OT1, ALDH3A2, IL17F, ALOX15B, RBM17, CDCA7, TARP, ASCC2, ZCCHC7, ALDH2, GPT2, CCR4, HAVCR2, ORAI1, ABCC11, PRRT2, CCR3, TSLP, CEACAM21, MCU, CCR1, CHAT, UBXN11, MFSD4B, PRDM6, FAM83H-AS1, CD48, MIR589, DEFA1B, ARID2, KRT8P3, CCNY, PI16, RNASEH1, POTEF, CAV2, NPB, CAV1, ANGPT2, CBR1, MIR640, COPD, SEC14L3, CASP8, CASP1, MIR625, LINC00641, NPW, PGP, SERPINA6, CCK, CD44, EFHB, TNFSF8, DOCK11, MIR885, TNFRSF8, CACUL1, MIR665, AMPD1, CD247, RMDN2, BTLA, CD1A, SLC2A12, CBLL2, SLC35G1, SLC5A8, CD3D, LINC00917, GIMAP7, ANGPT1, OIP5-AS1, CD63, IGHV3OR16-7, IL21R, TM7SF2, MNDA, MMP12, MMP10, TP53BP1, TRP-TGG3-1, TRPC3, MME, TSHR, TTC3, TTC4, TTR, KMT2A, MLH1, CXCL9, U2AF1, UBC, UBE2G1, UBE2I, SUMO1, MGAT5, MGAT1, UCP3, MFGE8, MPP1, MYO1B, KIR2DS4, CYTB, NGFR, NGF, NFKBIL1, TRA, NFKB2, TRG, TRGC1, TFRC, NFATC2, NF2, NEFL, NCAM1, MYD88, THBS2, MYC, MUC1, TIMP2, TIMP3, TRNT, TKT, MTRR, MTTP, NUDT1, MFAP4, VCAM1, MFAP1, MET, MADCAM1, LDHC, F8A1, AXIN2, LAIR1, PLA2G6, DOC2B, CUL4B, CUL4A, CILP, PIK3R3, LAG3, KRT18, KRT8, RNASET2, AOC3, KNG1, PDE5A, TNFRSF25, KLRC3, RIPK2, FADD, TNFRSF18, LEPR, KMT2D, PDHX, MAS1, VEGFC, VIL1, VIM, MAP3K1, MEF2A, WARS1, MDM4, XBP1, XDH, MC4R, NPHS2, LGALS1, ALMS1, SMAD7, MXD1, LIPC, LIF, AIMP2, LHCGR, LGALS3BP, CUBN, PROA, NM, NOTCH2, NOTCH3, SCG5, RXRB, S100A1, S100A8, MAPK8, MAPK7, SARS1, SAT1, MAPK3, SCD, SCO1, PRKCA, CCL3L1, PRKAB1, PRKAA2, CCL8, PRKAA1, PREP, CCL21, SDC2, PPBP, SEL1L, PPARD, POLE, PRL, RPS6KB1, HTRA1, OPN1LW, PSMD12, PSMD8, PVT1, RAC2, RAD51, PSMC6, RAG2, RARB, PSMB5, PSMA6, PSMA3, ROS1, REG1B, RELA, RELB, PSG7, PSG2, PSG1, RGS2, RIT2, RMRP, PRTN3, SRSF5, PLIN1, NOVA1, PLEK, PAEP, P4HB, SST, SSTR4, ORM1, OAS3, NTS, NTRK2, NRAS, STAT6, SULT1E1, STIM1, NPY2R, NPPC, SUV39H1, SYT1, TAC1, TAC3, ADAM17, NPPA, NPHS1, TAPBP, TAT, SPARC, SP3, SOX2, PF4V1, PMEL, PLG, PLAU, PKD1, PI3, PHB, ABCB1, SLC6A6, SERPINA3, CFP, PF4, PRKN, PER1, SERPINF1, PDR, ENPP1, SLC22A5, SUMO2, PDCD2, FSCN1, PCMT1, PAX6, KISS1, KAT2B, FGB, CXCL1, GRN, GRB10, GPX3, ANKS1A, ICOSLG, GPX1, ZDHHC17, SIRT5, FFAR2, GPR42, XCR1, CELA3B, GPI, DDAH2, PADI4, DDAH1, DDX58, GNB3, CA14, SNHG1, PPIL2, IL17RA, PANX1, NR3C1, MLC1, KCNQ1, PMPCA, BTN3A2, FAF1, HCRT, NUDT3, SLC2A6, POLG2, USP18, HARS1, ACOT7, IKZF3, H2AX, CARD8, KLRK1, MMRN1, SIRT2, GYS1, TPX2, GSTM2, GSR, GSN, MCF2L2, GSK3B, NCDN, QPCT, LMOD1, PART1, GLB1, DESI1, PTGER4, IGHV3-69-1, FYB1, TRBV2, TRAV29DV5, TRAJ60, TRAC, FPR3, FLVCR1, FPR2, FMR1, FOXO3, FOXF1, NENF, FGR, SLC2A8, FGF14, FGF3, CD209, FGF2, DUOX2, FGF1, PCSK1N, SLC37A4, PDCD4, GCKR, RNF19A, SOSTDC1, GORASP2, APPL1, POLDIP2, B4GALT1, NOC2L, GFER, MSTN, OR7E66P, GATA4, IL17B, GALNT3, UTP25, SND1, FOXP1, B3GAT1, B4GALNT1, DKK4, NAAA, IL37, IL17C, CIT, HFE, CFHR2, IL5, GRAP2, NTN1, ABCG2, INSRR, INPPL1, FHL5, CHST3, ATG5, STX8, ADAMTS4, ADAMTS3, ADAMTS1, GAL3ST1, IL15RA, SOCS5, CEP135, SART3, IL13RA1, IL12RB2, ELMO1, PUM3, ARHGAP25, MVP, IRAK1, NRXN1, ITGA2B, IVL, KCNJ3, KCNE1, APLN, SPHK1, HERC2, KCNC4, HSPB3, JUN, MAP3K14, JAK1, HGS, ITGA4, SCAF11, LPAR2, IL1RL1, XPR1, ITGB3, ITGB2, ITGB1, STK17B, ITGAX, ITGAL, IL12RB1, ABCB6, SDS, DNM1L, SLC19A2, AHSA1, SLCO1B1, HES1, IGF2BP2, HPRT1, HOXD8, HNRNPK, HNRNPF, HMGCS2, OGA, HLA-E, YME1L1, PHTF1, MASP2, NES, CCL27, HK2, LILRB1, HK1, PPARGC1A, NRG1, KCNQ1OT1, SLC35A1, HSD17B4, PRDX4, RAMP2, IGHM, TSPAN5, IGF2R, EBI3, ALYREF, IFNW1, IFNB1, OLIG2, KLRG1, IFNA17, ID3, BATF, SIGMAR1, ID2, IRF8, AKR1A1, TLR6, HTR1A, CEPT1, NOD1, HSPE1, UNC13B, NAT2
- Diabetes Mellitus, Insulin-Dependent Omim
  
  The human MHC class II molecule encoded by DQA1*0102/DQB1*0602 (termed DQ0602) confers strong susceptibility to narcolepsy (161400) but dominant protection against type I diabetes. ... The average risk to sibs is 6% (Todd, 1990). Recessive, dominant, and multifactorial hypotheses have been advanced, as well as 'susceptibility' hypotheses (Rotter, 1981). ... Nilsson (1964) commented on the difficulties of distinguishing dominant and recessive inheritance when gene frequency is high. ... See 125850 for a clear example of an autosomal dominant type of diabetes mellitus: maturity-onset diabetes of the young (MODY). ... This was 'dominant protection,' i.e., it did not matter what other allele was present.
- Type 1 Diabetes Wikipedia
  
  Depending on locus or combination of loci, they can be dominant, recessive, or somewhere in between. ... Increases have been measured up to 37% during the first year of diagnosis, while c-peptide levels (indicative of islet-derived insulin), decline by up to 45%. [40] Insulin production will continue to fall as the immune system follows its course of progressive beta cell destruction, and islet-derived insulin will continue to be replaced by therapeutic exogenous insulin. ... Another hallmark of type 1 diabetes is islet autoreactivity, which is generally measured by the presence of autoantibodies directed towards the beta cells. [ citation needed ] Autoantibodies [ edit ] The appearance of diabetes-related autoantibodies has been shown to be able to predict the appearance of diabetes type 1 before any hyperglycemia arises, the main ones being islet cell autoantibodies , insulin autoantibodies , autoantibodies targeting the 65- kDa isoform of glutamic acid decarboxylase (GAD), autoantibodies targeting the phosphatase -related IA-2 molecule, and zinc transporter autoantibodies (ZnT8). [18] By definition, the diagnosis of diabetes type 1 can be made first at the appearance of clinical symptoms and/or signs, but the emergence of autoantibodies may itself be termed " latent autoimmune diabetes ". ... This association can be explained by shared genetic factors, and inflammation or nutritional deficiencies caused by untreated celiac disease, even if type 1 diabetes is diagnosed first. [6] Urinary tract infection [ edit ] People with diabetes show an increased rate of urinary tract infection . [92] The reason is bladder dysfunction is more common in people with diabetes than people without diabetes due to diabetes nephropathy. ... Aboriginals and Torres Strait Islander people are less affected. [102] [103] History [ edit ] Further information: History of diabetes Type 1 diabetes was described as an autoimmune disease in the 1970s, based on observations that autoantibodies against islets were discovered in diabetics with other autoimmune deficiencies. [104] It was also shown in the 1980s that immunosuppressive therapies could slow disease progression, further supporting the idea that type 1 diabetes is an autoimmune disorder. [105] The name juvenile diabetes was used earlier as it often first is diagnosed in childhood. Society and culture [ edit ] See also: List of people with type 1 diabetes Type 1 and 2 diabetes was estimated to cause $10.5 billion in annual medical costs ($875 per month per diabetic) and an additional $4.4 billion in indirect costs ($366 per month per person with diabetes) in the U.S. [106] In the United States $245 billion every year is attributed to diabetes.
Zinc Deficiency Wikipedia

Zinc deficiency Zinc Specialty Endocrinology Causes a diet high in phytate-containing whole grains Zinc deficiency is defined either as insufficient zinc to meet the needs of the body, or as a serum zinc level below the normal range. ... Other good sources of zinc are nuts, whole grains, legumes, and yeast. [55] Although whole grains and cereals are high in zinc, they also contain chelating phytates which bind zinc and reduce its bioavailability. [5] Oral repletion via tablets (e.g. zinc gluconate) or liquid (e.g. zinc acetate). ... In 1950 a normal serum zinc level was first defined, and found to be 17.3–22.1 micromoles/liter. ... In 1963 zinc was determined to be essential to human growth, three enzymes requiring zinc as a cofactor were described, and a report was published of a 21-year-old Iranian man with stunted growth, infantile genitalia, and anemia which were all reversed by zinc supplementation. [60] In 1972 fifteen Iranian rejected army inductees with symptoms of zinc deficiency were reported: all responded to zinc. In 1973 the first case of acrodermatitis enteropathica due to severe zinc deficiency was described. ... In the 1990s there was increasing attention on the role of zinc deficiency in childhood morbidity and mortality in developing countries. [61] In 2002 the zinc transporter protein ZIP4 was first identified as the mechanism for absorption of zinc in the gut across the basolateral membrane of the enterocyte.

SLC39A13, IGF1, SLC39A4, IL6, TEX11, SLC39A2, SHOC1, ZNF569, SLC30A2, TGFB1, MIR31, SHANK3, SHANK2, SOD1, SOCS6, BCL10, SKAP2, ADIPOQ, SLC30A3, AIMP2, SLC30A4, PARP2, TP53, TOP2B, TFRC, SYT1, STAT1, GRAP2, POLDIP2, AHSA1, SLC39A8, MIR21, MIR143, COMMD1, WNK1, GORASP1, CARD9, SEMA6A, RNF19A, SCYL1, CTNNBL1, IL23A, HSD17B7, SETD2, S100A9, SCD, ACTB, ALB, FOSB, HSPA1A, HMOX1, HMBS, HIF1A, GPR39, GATA3, GAPDH, GABPA, FOS, HSPA2, FBL, CYBB, MAPK14, CRK, CDH13, CD40LG, VPS51, BDNF, HSPA1B, IGFALS, RPE, NFE2L2, RELA, MAPK3, MAPK1, PAX4, OGG1, NPC1, NOS3, NFKB1, NEDD9, IL4, MT2A, MPO, MBP, JUND, JUNB, JUN, PDX1, IL17A, S100A8
Uric Acid Concentration, Serum, Quantitative Trait Locus 5 Omim

Mapping Sulem et al. (2011) tested 16 million SNPs, identified through whole-genome sequencing of 457 Icelanders, for association with gout and serum uric acid levels.
End Stage Pulmonary Disease Wikipedia

"Caregivers for people with end-stage lung disease: Characteristics and unmet needs in the whole population" . International Journal of Chronic Obstructive Pulmonary Disease . 3 (4): 753–762. doi : 10.2147/COPD.S3890 .
Acalvaria Orphanet

In rare cases, acalvaria involves the whole of the dome-like superior portion of the cranium comprising the frontal, parietal, and occipital bones.

NAT2, PYY, VANGL1, FUZ, GRHL3, VANGL2, GHRL, CECR2, SPINT2, ZIC2, TBXT, SKI, CCL2, BHMT, RRM1, PRSS8, PAX3, NPY1R, MTHFR, MTHFD1, INS, IFNG, GLI3, FOLR2, FOLR1, CYP1A2, CSF2, ZIC5, ALX1, TRAF4, RAB11FIP3
- Acrania Wikipedia
  
  "Headless" redirects here. For other uses, see Headless (disambiguation) . Acrania Partial absence of skull, bones, and scalp Specialty Medical genetics Acrania is a rare congenital disorder that occurs in the human fetus in which the flat bones in the cranial vault are either completely or partially absent. [1] The cerebral hemispheres develop completely but abnormally. [1] The condition is frequently, though not always, associated with anencephaly . The fetus is said to suffer from acrania if it meets the following criteria: the foetus should have a perfectly normal facial bone, a normal cervical column but without the fetal skull and a volume of brain tissue equivalent to at least one third of the normal brain size. [2] Contents 1 Causes 1.1 Genetics 1.1.1 Genetic counseling 1.2 Amniotic band syndrome 2 Mechanism 2.1 Ectodermal mesenchyme 3 Diagnosis 4 Prognosis 5 References 6 External links Causes [ edit ] Infant with both acrania and anencephaly . Genetics [ edit ] There are no known family ties in acrania and recurrence rates are extremely low. Not much is known about the exact mechanism involved in acrania. It is hypothesized that like other developmental malformations, there are multiple origins for acrania.
- Acalvaria Gard
  
  Primary acalvaria is an extremely rare malformation characterized by the absence of the flat skull bones of the brain, dura mater , and scalp muscles. The skull base and facial features are fully formed and usually appear normal. The cause of acalvaria is still unknown. Acalvaria can be distinguished from anencephaly , the most common differential diagnosis, by the presence of a layer of skin overlying the brain matter and normal cerebral hemispheres. This malformation is most often lethal at birth due to other associated anomalies or to trauma during delivery, but a few surviving infants have been reported. Prenatal diagnosis via transvaginal ultrasound and/or magnetic resonance imaging is critical for better pregnancy management.
Steatorrhea Wikipedia

Contents 1 Causes 1.1 Associated diseases 1.2 Medications 1.3 Excess whole nuts in diet 1.4 Natural fats 1.5 Artificial fats 2 Diagnosis 3 Treatment 4 See also 5 References 6 External links Causes [ edit ] Impaired digestion or absorption can result in fatty stools. ... As a result, some fat cannot be absorbed from the gut and is excreted in the feces instead of being metabolically digested and absorbed, sometimes causing oily anal leakage. [5] [6] [7] Vytorin (ezetimibe/simvastatin) tablets can cause steatorrhea in some people. [5] [7] Excess whole nuts in diet [ edit ] Some studies have shown that stool lipids are increased when whole nuts are eaten, compared to nut butters, oils or flour [8] and that lipids from whole nuts are significantly less well absorbed. [9] Natural fats [ edit ] Consuming jojoba oil has been documented to cause steatorrhea and anal leakage because it is indigestible. [10] Consuming escolar and oilfish (sometimes mislabelled as butterfish ) will often cause steatorrhea, also referred to as Gempylotoxism or Gempylid Fish Poisoning or keriorrhea . [11] Artificial fats [ edit ] The fat substitute Olestra , used to reduce digestible fat in some foods, was reported to cause leakage in some consumers during the test-marketing phase.

BAAT, SLC7A7, CYP7B1, EIF2AK3, CTRC, SHPK, SBDS, SAR1B, PTRH2, HYMAI, EFL1, CLMP, HSD3B7, COX4I2, ANTXR2, DNAJC21, PTF1A, TJP2, ACOX2, CFTR, ABCC8, EPHX1, HLA-DQA1, HLA-DQB1, KCNJ11, LBR, LIPA, PEX12, PLAGL1, PNLIP, PRSS1, PRSS2, SLC10A2, SPINK1, AKR1D1, SRP54, ZFP57
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome Omim

They studied 4 cases from 2 families. Jacobs' first family was American black and the second Pakistani (Jacobs, 1981). Athreya and Schumacher (1978) reported the condition in the first, third, and fifth sibs of a 5-sib family born to parents who were not known to be related, but came from the same small village in Ireland. The first sib, a girl aged 16 at study, was born with flexion deformity of the right middle finger and developed polyarticular large joint arthritis in early infancy. ... Camptodactyly of the hands was the first sign seen in most patients (68%). ... In this cohort, 6 frameshift mutations, 2 nonsense mutations, and the first case of a homozygous deletion of a complete exon (604283.0007) were identified.

PRG4, TPR, UROD, PSTPIP1, STAMBP
- Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome Orphanet
  
  Camptodactyly-arthropathy-coxa-vara-pericarditis (CACP) syndrome is a rare, genetic, rheumatologic disease characterized by congenital or early-onset camptodactyly and symmetrical, polyarticular, non-inflammatory, large joint arthropathy with synovial hyperplasia, as well as progressive coxa vara deformity and, occasionally, non-inflammatory pericarditis.
- Camptodactyly Arthropathy Coxa Vara Pericarditis Syndrome Gard
  
  This gene is responsible for making a protein that lubricates the joints.The condition is inherited in an autosomal recessive manner. CACP may be at first confused with juvenile idiopathic arthritis because the two diseases have similar symptoms.
- Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome Wikipedia
  
  Contents 1 Presentation 2 Genetics 3 Diagnosis 3.1 Laboratory 3.2 Radiology 4 Management 5 References 6 External links Presentation [ edit ] This condition was first described in 1986. [1] and is a syndrome of camptodactyly , arthropathy , coxa vara and pericarditis . [2] It may also include congenital cataracts . [3] The cause of this syndrome was discovered in 1999. [4] Children with this syndrome often present with a joint effusion that is cool and resistant to anti-inflammatory therapy.
Irlen Syndrome Wikipedia

Please help improve it or discuss these issues on the talk page . ( Learn how and when to remove these template messages ) This article possibly contains original research . ... Similar symptoms were separately described by Meares and Irlen—each unaware of the other's work. Irlen, who was the first to systematically define the condition, named her findings "scotopic sensitivity", though in the discussions and debates over the following years, some referred to it as Meares-Irlen syndrome . ... In Australia, Irlen syndrome was researched by Paul Whiting at the University of Sydney . Whiting set up the first Irlen Dyslexia Centre in Australia, which operated in the Children's Centre at Sydney University for more than 15 years. [9] Irlen syndrome was also studied in Australia by Greg Robinson (1944–2008) at the University of Newcastle . He was director of the Special Education Centre at the School of Education. [10] In the US, peer-reviewed literature on the topic suggests that much is unknown about the cause of these disorders, ranging from the 2011 study in a journal of the American Academy of Pediatrics , "Irlen Colored Overlays Do not Alleviate Reading Difficulties" [4] and the 2012 study in the journal Brain Topography , "A Functional Neuroimaging Case Study of Meares–Irlen Syndrome". [3] The first, purely in relation to Meares-Irlen syndrome, finds that there is no evidence for one of the fundamental claims of therapeutic benefit.

RHO, APOB
Tangier Disease Gene_reviews

Sequence analysis of ABCA1 detects small intragenic deletions/insertions and missense, nonsense, and splice site variants; typically, exon or whole-gene deletions/duplications are not detected. Perform sequence analysis first. If only one or no pathogenic variant is found, perform gene-targeted deletion/duplication analysis to detect intragenic deletions or duplications. ... Pathogenic variants may include small intragenic deletions/insertions and missense, nonsense, and splice site variants; typically, exon or whole-gene deletions/duplications are not detected. ... Histiocytic manifestations Hyperplastic yellow-orange palatine and pharyngeal tonsils are typically first noted in late childhood or adolescence.

ABCA1, APOA1, HEATR6, APOE, ABCA4, GPR162, HDL3, APOB, LPAL2, APOA2, RAC2, ANGPTL3, NPC2, ABCG1, ABCG2, ABCB5, PLA2G10, TERT, SERPINA1, RAC1, PLA2G2A, NPC1, LDLR, LCAT, HSPG2, GPLD1, GJA1, CDC42, APOA4, ABCD1, LINC01672
- Tangier Disease Omim
  
  ., 1961), most of whom were descendants of first settlers of 1686. Other affected families have been discovered in Missouri and Kentucky. ... The patient of Pietrini et al. (1985) had widespread neuropathy with facial diplegia, bilateral wasting of the hand muscles, and dissociated loss of pain and temperature sensation sparing the distal parts of the limbs, known as a 'syringomyelia-like' syndrome. First neurologic symptoms appeared at age 37; he burned the base of the neck by application of an excessively hot heating pad and noted induced sensation to heat and pain in some areas of the shoulder and later in the hand and arm.
- Tangier Disease Orphanet
  
  A rare, genetic neurometabolic disease characterized biochemically by an almost complete absence of plasma high-density lipoproteins (HDL), and clinically by liver, spleen, lymph node and tonsil enlargement along with multifocal peripheral neuropathy, corneal, skin and nail and, occasionally, cardiovascular disease. Epidemiology Tangier disease (TD) prevalence is unknown. Approximately 200 cases have been described worldwide. Clinical description The clinical presentation and the severity of symptoms vary widely between patients. Although extremely low plasma HDL cholesterol may be detected fortuitously from birth, the most characteristic finding in children is large tonsils with a particular orange-yellow color due to carotene-enriched low-density lipoprotein (LDL) tissue-accumulation. Patients may also show asymptomatic hepatosplenomegaly, lymph node enlargement, corneal opacities and skin lesions with onset typically in childhood or adolescence.
- Tangier Disease Wikipedia
  
  This article needs additional citations for verification . Please help improve this article by adding citations to reliable sources . Unsourced material may be challenged and removed. Find sources: "Tangier disease" – news · newspapers · books · scholar · JSTOR ( December 2007 ) ( Learn how and when to remove this template message ) Tangier disease Other names Familial alpha-lipoprotein deficiency [1] : 535 Specialty Endocrinology Tangier disease or hypoalphalipoproteinemia is an extremely rare inherited disorder characterized by a severe reduction in the amount of high density lipoprotein (HDL), often referred to as "good cholesterol ", in the bloodstream. [2] Worldwide, approximately 100 cases have even been identified. [3] [4] The disorder was originally discovered on Tangier Island off the coast of Virginia , but has now been identified in people from many different countries. Contents 1 Signs and symptoms 2 Genetics 3 Diagnosis 4 Treatment 5 History 6 References 7 External links Signs and symptoms [ edit ] Individuals that are homozygotes for Tangier's disease develop various cholesterol ester depositions. These are especially visible in the tonsils , as they may appear yellow/orange. The cholesterol esters may also be found in lymph nodes, bone marrow, the liver and spleen.
- Tangier Disease Medlineplus
  
  This condition is named after an island off the coast of Virginia where the first affected individuals were identified.
- Tangier Disease Gard
  
  Tangier disease is an inherited disorder characterized by significantly reduced levels of high-density lipoprotein (HDL) - the 'good cholesterol' - in the blood. Because people with Tangier disease have very low levels of HDL, they have a moderately increased risk of cardiovascular disease. Tangier disease is caused by mutations in the ABCA1 gene. It is inherited in an autosomal recessive pattern.
Dry Macular Degeneration Mayo_clinic

You lose the ability to see fine detail. These changes may be the first sign of macular degeneration, particularly if you're over age 60. ... Nonmeat sources include milk, cheese, yogurt, whole-grain cereals and whole-wheat bread. ... What to expect from your doctor Your eye doctor is likely to ask you a few questions, such as: When did you first notice your vision problem? Does the condition affect one or both eyes?

ARMS2, CFH, CFI, CFHR3, APOE, CFB, C3, CFHR1, SYN3, SLC16A8, STK19, ALDH1A2, ABCA1, PILRA, SRPK2, SKIV2L, RDH5, TMEM97, ARHGAP21, NPLOC4, PBX2, MARK4, TRPM3, ACAD10, CFHR5, HMCN1, EXOC3L2, B3GLCT, KCNT2, MFF-DT, ADAMTS9-AS2, PLXNA2, RAD51B, C2-AS1, CETP, FUT6, CYP21A2, COL8A1, COL4A3, CNN2, IMPDH1, LIPC, C9, C2, AMD1P2, AMD1, HTRA1, RPE, DICER1, VEGFA, TLR3, NLRP3, GFAP, CFD, ABCA4, MMP9, IL6, VIM, MMP2, MIR424, MIR301A, TSPO, CD200, TDRP, LRPAP1, CGAS, C1QTNF5, PGF, CASP8, CD59, CHRM3, TNR, ATF7IP2, PRPH2, CXCL8, SOD2, CRP, CRYAB, CX3CR1, TIMP1, CD46, HDAC9, EFEMP1, TNF, MBP
- Geographic Atrophy Wikipedia
  
  An advanced form of age-related macular degeneration Geographic atrophy (GA) , also known as atrophic age-related macular degeneration (AMD) or advanced dry AMD, is an advanced form of age-related macular degeneration that can result in the progressive and irreversible loss of retina (photoreceptors, retinal pigment epithelium, choriocappillaris) which can lead to a loss of visual function over time. [1] [2] [3] [4] It is estimated that GA affects >5 million people worldwide and approximately 1 million patients in the US, [5] [6] which is similar to the prevalence of neovascular (wet) AMD, the other advanced form of the disease. The incidence of advanced AMD, both geographic atrophy and neovascular AMD, increases exponentially with age and while there are therapies for wet AMD, GA currently has no approved treatment options. The aim of most current clinical trials is to reduce the progression of GA lesion enlargement. [7] Contents 1 Presentation 2 Pathogenesis 3 Diagnosis 4 Treatment 5 References Presentation [ edit ] Geographic atrophy is a chronic disease, which leads to visual function loss. This often results in difficulties performing daily tasks such as reading, recognizing faces, and driving, and ultimately has severe consequences on independence. [8] [9] [10] Initially, patients often have good visual acuity if the GA lesions are not involved in the central macular, or foveal, region of the retina. [7] [11] As such, a standard vision test may underrepresent the visual deficit experienced by patients who report challenges reading, driving or seeing in low light conditions. [12] While fluorescein angiography and optical coherence tomography are today well established for diagnosing and tracking progression in geographic atrophy more complex diagnostic assessments may be required in the context of clinical trials. [13] Pathogenesis [ edit ] The pathogenesis of GA is not fully understood yet. It is likely multifactorial and triggered by intrinsic and extrinsic stressors of the poorly regenerative retinal pigment epithelium (RPE), particularly oxidative stress caused by the high metabolic demand of photoreceptors, photo-oxidation, and environmental stressors such as cigarette smoke.
Ruptured Eardrum (Perforated Eardrum) Mayo_clinic

When sound waves strike it, the eardrum vibrates — the first step by which structures of the middle and inner ears translate sound waves into nerve impulses. ... With this office procedure, your ENT doctor may apply a chemical to the edges of the tear, which can promote ear drum healing, and then apply a patch over the hole. ... What to expect from your doctor Your provider is likely to ask you a number of questions, including: When did you first experience symptoms? Did you have symptoms such as pain or vertigo that cleared up?
Juvenile Idiopathic Arthritis Mayo_clinic

While your child might not complain of joint pain, you may notice that he or she limps — especially first thing in the morning or after a nap. ... Joint swelling is common but is often first noticed in larger joints such as the knee. ... Exercise is important because it promotes both muscle strength and joint flexibility.

SMAD3, JMJD1C, ADCY7, IL1RN, SLC11A1, CTLA4, LPP, NDEL1, BTG3, CD14, CXCL1, CXCR4, OSM, PLAUR, PLOD2, NRG1, ASAP1, MAPK1, SLC22A16, PGM5, RNF103, PROS1, TUBB2A, H2AC8, FOXP1, MIR22HG, SIPA1L1, TNFAIP8, ANKRD9, MAFF, KAT6B, GP1BB, GNG11, GMPR, BEND2, STAB1, FOSL2, FOSB, FOS, PER1, TNFRSF10C, AOPEP, H2BC8, HERPUD2, KRAS, MTSS1, KCNJ15, JUN, ITGB5, ITGA2B, ETNK1, FAM20A, MAP2, MAD1L1, RBM47, CXCR2, DYSF, HSPA6, WWOX, SH3BGRL2, MSN, NR4A3, MS4A4A, MEX3C, IGF1R, NR4A2, C2orf88, MAML2, ACRBP, OLR1, FCGR1A, AVL9, TTLL5, CMTM2, CALD1, BTG1, RHOBTB1, TFPI, LILRA5, C8B, TFDP1, TREML1, CREM, PACSIN2, CD8B, TCF7L2, STIM1, CLU, STAT3, CD83, THBS1, FAXDC2, RERE, KLF4, B4GALT5, AREG, FCHSD2, AQP9, PCYT1B, TNFAIP6, UBE3C, ALOX12, MYZAP, WASF3, PLK2, ACP3, R3HDM2, NEAT1, CAMSAP1, DUSP2, DDIT3, ZFC3H1, RASGEF1B, SIK1, HBEGF, DUSP1, DUSP4, DAPK1, EGF, EGR1, ELF2, CTTN, UHRF1BP1L, ETV6, GADD45A, ZFAND3, APOBEC3A, UBE2E1, TNIK, SLC2A3, C9orf72, HLA-DRB1, PTPN22, IL6, IL2RA, STAT4, VTCN1, MIF, LACC1, PTPN2, IL23R, CD247, ACP5, ANKRD55, REEP3, ZMIZ1, IL2RB, TIMMDC1, ATG16L1, CRB1, ADGRL2, SUOX, ATXN2L, ERAP2, TNF, IGF2-AS, NRBF2, FNBP1, LINC00993, CARD9, CTTNBP2, CACNA1I, ANGPTL5, HLA-A, DAG1, IL1B, IL1A, FUT2, TSBP1, CCDC26, RBM45, GPR35, NKD1, LRRK2, HLA-DPB1, FAM169B, ANKRD30A, LURAP1L, C1orf141, DCLRE1C, CSMD1, TSBP1-AS1, LINC01250, INS-IGF2, IL10, IRF1-AS1, TNFSF15, CCR5, FOXP3, IFNG, IL4, IL17A, HLA-DQA1, TRAF1, CRP, ESR1, IL2, S100A12, CXCR3, NLRP3, DEK, MEFV, IL18, TLR4, ERAL1, IL6R, ISG20, TNFRSF11B, CRYGD, GZMB, UNC13D, MTHFR, GH1, CXCL8, HSPD1, MIR146A, VDR, MMP9, TRBV20OR9-2, COMP, CD226, TNFSF11, TNFRSF1A, CCR4, MMP3, NLRP1, TAP1, IL6ST, TLR2, TIMP2, TNFAIP3, LINC01193, IRF1, USO1, MBL2, SPP1, CXCL10, MIR155, TIMP1, IRF5, HLA-C, HLA-B, CSF2, IL33, PSMA6, PSMB9, NXF1, PRKCQ, VIL1, HLA-DQB1, VEGFA, IL21, S100A8, HLA-DRB3, HMGB1, HSPA14, SEC14L2, CCL3, CCL5, TNFRSF11A, IGF1, FLNB, MTX1, CXCR6, ABCB6, POSTN, NR1I3, SH2B3, HMGB1P5, TRIM13, NAMPT, CARD14, CCL27, SUMO4, NT5C1A, EBPL, FCRL3, HT, PYDC1, FAM177A1, SERPINA2, CARD8, MIR125A, MIR204, MIR21, WG, CXADRP1, KIR2DS2, TLR10, NAA25, CXCL16, ZNF395, RSBN1, SIAE, TREM1, ERAP1, IL23A, TLR7, LINC00328, MBL3P, CD274, IL37, ACAD8, PADI4, CLEC16A, BMS1, ACACA, HDAC9, GSTT1, HMOX1, HLA-G, HLA-DRB5, HLA-DPA1, HIF1A, HFE, GSTP1, HYAL1, GSTM1, GHR, GEM, GATA3, GAS6, FCN2, HNF4A, ICAM1, ELK3, ITPA, KIR2DS4, KIR2DS1, KIR2DL3, KIR2DL2, KIR2DL1, KIF5A, IRAK1, IFN1@, IL13, IL7R, IL4R, IGHG3, IFNA13, IFNA1, FBN1, SLC26A2, KIR3DL2, ARR3, C2, BMP4, BGLAP, BCL2, ATM, ATIC, AR, C4BPA, FAS, ANXA11, AMH, ACAN, ADRB2, ADA, C4A, C5, ATN1, CCR7, DPP4, DHCR7, CXADR, CTNNB1, CSF3, CNR2, CHIT1, CALCR, CDK6, LRBA, ENTPD1, CD28, CAT, CASR, KIR3DL1, KIR3DS1, PRORP, SNAI1, TGFB1, PRDX2, TAP2, STXBP2, STAT1, SPG7, SLC19A1, TLR3, SELP, SELE, CXCL11, CXCL6, CCL21, CCL20, TGM2, TNFRSF1B, ATXN2, ABCC3, NCR2, IL32, PSTPIP1, SH2D2A, KSR1, CCN6, DGKZ, TP53, CDR3, VIM, VCAM1, TYK2, TWIST1, TTN, CCL19, SAG, AFF3, MME, NGF, NFKBIA, NCAM1, MMP8, MMP2, MMP1, CIITA, NOS3, MECP2, LYZ, LTA, LIG4, LEP, LBP, NM, NT5E, SAA1, PTX3, S100B, S100A9, S100A1, BRD2, RBP3, RAB27A, PTPRC, PDCD1, PSMC6, PSMA3, PRNP, PRKAR1A, PRF1, ABCB1, CCL2
- Childhood Arthritis Wikipedia
  
  Contents 1 Signs and symptoms 2 Cause 3 Diagnosis 3.1 Definition 4 Treatment 5 Epidemiology 6 References 7 External links Signs and symptoms [ edit ] Several types of childhood arthritis exist, the most common being juvenile idiopathic arthritis (JIA), [1] also known as juvenile rheumatoid arthritis (JRA) or juvenile chronic arthritis (JCA). [2] Other types of childhood arthritis include juvenile myositis, juvenile lupus, juvenile scleroderma, vasculitis, and fibromyalgia. [3] JRA again can be divided into three main forms: The classification is based upon symptoms, number of joints involved and the presence of certain antibodies in the blood. [4] [5] Polyarticular arthritis is the first type of arthritis, which affects about 30–40% of children with arthritis and is more common in girls than boys. [4] [5] [1] [6] Typically five or more joints are affected (usually smaller joints such as the hands and feet but many also affect the hips, neck, shoulders and jaw). [4] [1] Oligoarticular (aka pauciarticular) arthritis can be early or late onset and is the second type of arthritis, affecting about 50% of children with juvenile arthritis. [4] [5] [1] This type affects fewer than four joints (usually the large joints such as knees, ankles or wrists) and may cause eye inflammation in girls with positive anti-nuclear antibodies (ANA). [4] [5] Girls younger than eight are more likely to develop this type of arthritis. [7] [5] Systemic disease is the least common form, with 10–20% of children (boys and girls equally) being affected with limited movement, swelling and pain in at least one joint. [4] [1] A common symptom of this type is a high, spiking fever of 103 °F (39.4 °C) or higher, lasting for weeks or months, and a rash of pale red spots on the chest, thighs or other parts of the body may be visible. [4] Cause [ edit ] In most cases, juvenile arthritis is caused by the body attacking its own healthy cells and tissues, i.e. autoimmunity , causing the joint to become inflamed and stiff. [8] [5] Once the joint has become inflamed and stiff, damage is done to the joint and the growth of the joint may by changed or impaired. [5] Diagnosis [ edit ] Early diagnosis and treatment by a paediatric rheumatologist or a rheumatologist can help manage inflammation, relieve pain, and prevent joint damage. [4] [5] Careful examination, laboratory tests (blood and urine), and various forms of imaging like X-rays may be some of the tests conducted by a doctor. [4] [5] Definition [ edit ] Juvenile arthritis, also known as Childhood arthritis (JA) is any form of chronic arthritis or arthritis-related conditions which affects individuals under the age of 16. [4] Juvenile arthritis is a chronic autoimmune disease . [4] Treatment [ edit ] The treatment of juvenile arthritis includes medications , physical therapy, splints and in severe cases surgery. [5] Methotrexate is commonly prescribed to children with juvenile arthritis. [9] These treatments are focused on reducing swelling, relieving pain and maintaining full movement of joints. [4] Children are encouraged to be involved in extra-curricular activities, physical activity when possible, and to live a "normal" life. [4] [6] Epidemiology [ edit ] In the US it affects about 250,000-294,000 children making it one of the most common childhood diseases. [5] References [ edit ] ^ a b c d e Centers for Disease Control and Prevention. (2011).
Homocystinuria Wikipedia

CBS deficiency may be diagnosed by routine metabolic biochemistry. In the first instance, plasma or urine amino acid analysis will frequently show an elevation of methionine and the presence of homocysteine. ... Betaine (N,N,N-trimethylglycine) is used to reduce concentrations of homocysteine by promoting the conversion of homocysteine back to methionine, i.e., increasing flux through the re-methylation pathway independent of folate derivatives (which is mainly active in the liver and in the kidneys). ... It is known that before the age of 30, almost one quarter of patients die as a result of thrombotic complications (e.g., heart attack ). [ citation needed ] Society and culture [ edit ] One theory suggests that Akhenaten , a pharaoh of the eighteenth dynasty of Egypt, may have suffered from homocystinuria. [12] See also [ edit ] Cystinuria Hyperhomocysteinemia References [ edit ] ^ a b Online Mendelian Inheritance in Man (OMIM): 236200 ^ https://www.nhs.uk/conditions/homocystinuria/ ^ a b c d e Tao, Le (2020-01-02). First aid for the USMLE step 1 2020 : a student-to-student guide .

CBS, MTRR, CBSL, MTHFR, MMACHC, MTR, MMADHC, PRDX1, LMBRD1, ABCD4, F5, FBN1, SERPINC1, TH, SCD, TFPI, F3, THBD, PROC, VWF, PEMT, ALDH7A1, PGR-AS1, TYR, PAEP, PLG, MMUT, BCHE, DDC, ATXN3, MAT1A, LOX, LEP, HRG, SERPIND1, GOT2, GOT1, F8, AAVS1
- Homocystinuria Gard
  
  Homocystinuria refers to a group of inherited disorders in which the body is unable to process certain building blocks of proteins (amino acids) properly. This leads to increased amounts of homocysteine and other amnio acids in the blood and urine. The most common type of genetic homocystinuria, called CBS deficiency, is caused by the lack of an enzyme known as cystathionine beta-synthase (CBS). Most states in the United States test for homocystinuria due to CBS deficiency at birth by newborn screening. Other types are less common, and are caused by different missing or non-working enzymes.