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Ocular Myasthenia Wikipedia

MG may be limited to the muscles of the eye (ocular MG), leading to abrupt onset of weakness/fatigability of the eyelids or eye movement. MG may also involve other muscle groups ( generalized MG ). ... Diagnosis [ edit ] The variable course of MG may make the diagnosis difficult. ... Treatment [ edit ] The prognosis tends to be good for patients with MG. It is often best not to treat mild cases of MG. ... The symptoms of ocular MG can also be addressed by non-medicinal means.

HLA-B, MUSK, CFB, HLA-DPB1, FAS, POMC, OMG, HLA-DQA1, RBM19, MIR150, RBM45, MBD5, ACHE, TNF, HLA-DRB1, HLA-A, MIR30E
Androgen Deficiency Wikipedia

The Food and Drug Administration (FDA) stated in 2015 that neither the benefits nor the safety of testosterone have been established for low testosterone levels due to aging . [6] The FDA has required that testosterone pharmaceutical labels include warning information about the possibility of an increased risk of heart attacks and stroke. [6] v t e Androgen replacement therapy formulations and dosages used in men Route Medication Major brand names Form Dosage Oral Testosterone a – Tablet 400–800 mg/day (in divided doses) Testosterone undecanoate Andriol, Jatenzo Capsule 40–80 mg/2–4x day (with meals) Methyltestosterone b Android, Metandren, Testred Tablet 10–50 mg/day Fluoxymesterone b Halotestin, Ora-Testryl, Ultandren Tablet 5–20 mg/day Metandienone b Dianabol Tablet 5–15 mg/day Mesterolone b Proviron Tablet 25–150 mg/day Buccal Testosterone Striant Tablet 30 mg 2x/day Methyltestosterone b Metandren, Oreton Methyl Tablet 5–25 mg/day Sublingual Testosterone b Testoral Tablet 5–10 mg 1–4x/day Methyltestosterone b Metandren, Oreton Methyl Tablet 10–30 mg/day Intranasal Testosterone Natesto Nasal spray 11 mg 3x/day Transdermal Testosterone AndroGel, Testim, TestoGel Gel 25–125 mg/day Androderm, AndroPatch, TestoPatch Non-scrotal patch 2.5–15 mg/day Testoderm Scrotal patch 4–6 mg/day Axiron Axillary solution 30–120 mg/day Androstanolone ( DHT ) Andractim Gel 100–250 mg/day Rectal Testosterone Rektandron, Testosteron b Suppository 40 mg 2–3x/day Injection ( IM or SC ) Testosterone Andronaq, Sterotate, Virosterone Aqueous suspension 10–50 mg 2–3x/week Testosterone propionate b Testoviron Oil solution 10–50 mg 2–3x/week Testosterone enanthate Delatestryl Oil solution 50–250 mg 1x/1–4 weeks Xyosted Auto-injector 50–100 mg 1x/week Testosterone cypionate Depo-Testosterone Oil solution 50–250 mg 1x/1–4 weeks Testosterone isobutyrate Agovirin Depot Aqueous suspension 50–100 mg 1x/1–2 weeks Testosterone phenylacetate b Perandren, Androject Oil solution 50–200 mg 1x/3–5 weeks Mixed testosterone esters Sustanon 100, Sustanon 250 Oil solution 50–250 mg 1x/2–4 weeks Testosterone undecanoate Aveed, Nebido Oil solution 750–1,000 mg 1x/10–14 weeks Testosterone buciclate a – Aqueous suspension 600–1,000 mg 1x/12–20 weeks Implant Testosterone Testopel Pellet 150–1,200 mg/3–6 months Notes: Men produce about 3 to 11 mg testosterone per day (mean 7 mg/day in young men).

LHB, POR, HSD3B2, AR, SHBG, TNFSF13B, BRD2, POMC, MAP6, INHA, BGLAP, IL6, IGF1, FOXA3, FOXO3, CYP17A1, CECR, PSS
Genetic Primary Hypomagnesemia Orphanet

A rare mineral absorption and transport disorder characterized by a selective defect in renal or intestinal magnesium (Mg) absorption, resulting in a low Mg concentration in the blood. ... Diagnosis is also established by simultaneous evaluation of serum Mg and urinary Mg excretion. Presence of hypomagnesemia with adapted urinary Mg excretion (<1mmol/24h or fractional excretion (FE) < 1%) indicates an extra renal origin. Elevated fecal Mg levels indicate an intestinal defect. In contrast, hypomagnesemia with increased urinary Mg excretion (> 2 mmol/24h or FE >2%) indicates a renal origin. ... Management and treatment Treatment of FPH involves substitution with oral Mg. In cases of intolerance, patients may be treated with intramuscular Mg sulfate.
Familial Primary Hypomagnesemia With Normocalciuria And Normocalcemia Orphanet

A form of familial primary hypomagnesemia (FPH), characterized by low serum magnesium (Mg) values but inappropriate normal urinary Mg values (i.e. renal hypomagnesemia). ... As a consequence, the renal EGF receptor (EGFR) is inadequately stimulated, resulting in insufficient activation of the epithelial Mg channel TRPM6 and thereby Mg loss. Thus, a renal Mg reabsorption defect is observed due to the inability of the kidney to reduce urinary Mg excretion under low serum Mg conditions. Diagnostic methods Diagnosis relies on laboratory findings revealing severely lowered serum Mg values in the absence of other electrolyte disturbances, normocalcemia, low to normal urinary calcium (Ca) values and normal urinary Mg values. ... Management and treatment Treatment of FPHNN is mainly symptomatic and includes the Mg substitution therapy. Prognosis Severity of the disease is variable.

EGF
- Hypomagnesemia 4, Renal OMIM
  
  A number sign (#) is used with this entry because of evidence that renal hypomagnesemia-4 (HOMG4) is caused by homozygous mutation in the EGF gene (131530) on chromosome 4q25. One such family has been reported. For a discussion of genetic heterogeneity of renal hypomagnesemia, see 602014. Clinical Features Geven et al. (1987) described 2 Dutch sisters, born of second-cousin parents, who had isolated hypomagnesemia due to renal loss. Serum calcium levels and urinary calcium excretion were normal. The sisters had seizures, mild to moderate psychomotor retardation, and brisk tendon reflexes. Mapping Groenestege et al. (2007) performed homozygosity mapping in the consanguineous Dutch family originally described by Geven et al. (1987) and obtained a lod score of 2.66 on chromosome 4 at an 18.4-cM interval between markers D4S2623 and D4S1575.
Juvenile Myasthenia Gravis Orphanet

Juvenile myasthenia gravis (MG; see this term) is a rare form of MG, an autoimmune disorder of the neuromuscular junction resulting in ocular manifestations or generalized weakness, with onset before 18 years of age. Epidemiology The exact prevalence and incidence of juvenile MG are not known. Estimated incidence has been reported at 1/1,000,000 to 1/200,000. ... The proportion of patients having only ocular symptoms is higher than in adult MG, particularly in the prepubertal group in which half of cases are purely ocular. ... Thymoma (see this term) development is rare in juvenile MG. Etiology The exact pathogenesis is not known but MG is related to circulating antibodies to various muscle receptors, including, in most of patients, acetylcholine receptor (AChR) and, rarely, muscle-specific receptor tyrosine kinase (MuSK). ... In the prepubertal form, there is a high rate of the MG form with no antibodies detectable (30-50%).
Meier-Gorlin Syndrome GARD

Meier-Gorlin syndrome (MGS) is a very rare inherited condition characterized by very small ears and ear canals, short stature, and absent or very small kneecaps (patellae). ... Females with MGS may have underdeveloped breasts. ... Most forms of MGS are inherited in an autosomal recessive pattern. The form caused by the GMNN gene is inherited in an autosomal dominant pattern. MGS is diagnosed based on the clinical signs and symptoms. ... Most people with this syndrome have normal lifespans. The exact prevalence of MGS has not been determined, but is estimated to be less than 1-9/1,000,000.

ORC1, CDT1, GMNN, ORC6, CDC6, ORC4, CDC45, BMP5, DRD2, SLC6A3, CYP2D6, MAPK1, MYH9, TLR4, MTOR, RBP4, MCM5, PSEN1, COMT, PTH, MAPK3, SOD1, RELA, PRKCA, PRKACG, RGS2, ATXN2, SLC18A2, VEGFA, SYT1, TGFB1, TNF, PIK3CG, PDPN, POSTN, CHEK2, PLCB1, SIRT1, ORC3, DISC1, CLEC7A, GORASP1, WNK1, PLA2G4A, ACTG1, PIK3CA, HTR2A, ASPH, BRCA2, BSG, CD2, COL1A1, CRP, CCN2, DRD3, EPHB2, FANCD2, FASN, FOXM1, GNAS, GRIK3, IL6, SERPINE1, IL10, INSR, ITPR1, LEP, CYP4F3, LY6E, LYZ, MAOB, MCM2, ATXN3, NOS2, ACTB, APOE, PAEP, ACHE
- Meier-Gorlin Syndrome 4 OMIM
  
  A number sign (#) is used with this entry because of evidence that Meier-Gorlin syndrome-4 (MGORS4) is caused by homozygous or compound heterozygous mutation in the CDT1 gene (605525) on chromosome 16q24. For a general phenotypic description and a discussion of genetic heterogeneity of Meier-Gorlin syndrome, see 224690. Clinical Features Feingold (2002) reported 4 patients with Meier-Gorlin syndrome from 2 families. All 4 patients had microcephaly but none had mental retardation, and some were of high intellect. On radiography, all 4 patients had absent or hypoplastic patella, abnormal glenoid fossa, hook-shaped clavicles, and long slender bones.
- Meier-Gorlin Syndrome 6 OMIM
  
  A number sign (#) is used with this entry because of evidence that Meier-Gorlin syndrome-6 (MGORS6) is caused by heterozygous mutation in the GMNN gene (602842) on chromosome 6p22. For a general phenotypic description and a discussion of genetic heterogeneity of Meier-Gorlin syndrome, see 224690. Clinical Features Burrage et al. (2015) described 3 unrelated patients with primordial dwarfism, microtia, and absent patellae, fulfilling the clinical diagnostic criteria of Meier-Gorlin syndrome. Patient 1 was born at 32 weeks and 4 days' gestation. The pregnancy was complicated by twin gestation, placental insufficiency, and severe intrauterine growth restriction in the proband. The proband had feeding problems necessitating nasogastric tube feeding, and she was diagnosed with gastroesophageal reflux and failure to thrive.
- Meier-Gorlin Syndrome 2 OMIM
  
  In 2 patients with Meier-Gorlin syndrome mapping to chromosome 2, Guernsey et al. (2011) independently identified homozygosity for the Y174C mutation in the ORC4 gene, and in 2 more MGS patients, they identified compound heterozygosity for the Y174C mutation and another mutation in the ORC4 gene (603056.0002 and 603056.0003, respectively).
- Meier-Gorlin Syndrome 3 OMIM
  
  A number sign (#) is used with this entry because of evidence that Meier-Gorlin syndrome-3 (MGORS3) is caused by homozygous or compound heterozygous mutation in the ORC6 gene (607213) on chromosome 16q11. For a general phenotypic description and a discussion of genetic heterogeneity of Meier-Gorlin syndrome, see 224690. Clinical Features Lacombe et al. (1994) reported 5 patients, including a brother and sister, who had short stature, very small external ears, cryptorchidism in males, and various bone defects including absent or nonossified patellae, femoral asymmetry, coxa valga, abnormal ribs, sacral hypoplasia, skull defect, and abnormal development of sternum. All of the patients had similar facies, with marked micrognathia. The sibs were born to second-cousin Turkish Kurd parents and had 1 healthy sib. At 7 years of age, the brother had marked growth retardation, whereas his 6-year-old sister had only mild growth retardation.
- Meier-Gorlin Syndrome 1 OMIM
  
  A number sign (#) is used with this entry because of evidence that Meier-Gorlin syndrome-1 (MGORS1) is caused by homozygous or compound heterozygous mutation in the ORC1 gene (601902) on chromosome 1p32. Description The Meier-Gorlin syndrome is a rare disorder characterized by severe intrauterine and postnatal growth retardation, microcephaly, bilateral microtia, and aplasia or hypoplasia of the patellae (summary by Shalev and Hall, 2003). While almost all cases have primordial dwarfism with substantial prenatal and postnatal growth retardation, not all cases have microcephaly, and microtia and absent/hypoplastic patella are absent in some. Despite the presence of microcephaly, intellect is usually normal (Bicknell et al., 2011). Genetic Heterogeneity of Meier-Gorlin Syndrome Most forms of Meier-Gorlin syndrome are autosomal recessive disorders, including Meier-Gorlin syndrome-1; Meier-Gorlin syndrome-2 (613800), caused by mutation in the ORC4 gene (603056) on chromosome 2q23; Meier-Gorlin syndrome-3 (613803), caused by mutation in the ORC6 gene (607213) on chromosome 16q11; Meier-Gorlin syndrome-4 (613804), caused by mutation in the CDT1 gene (605525) on chromosome 16q24; Meier-Gorlin syndrome-5 (613805), caused by mutation in the CDC6 gene (602627) on chromosome 17q21; Meier-Gorlin syndrome-7 (617063), caused by mutation in the CDC45L gene (603465) on chromosome 22q11; and Meier-Gorlin syndrome-8 (617564), caused by mutation in the MCM5 gene (602696) on chromosome 22q12.
- Ear-Patella-Short Stature Syndrome Orphanet
  
  Ear-patella-short stature syndrome is an association of malformations including bilateral microtia (severe hypoplasia of ear pinnae), absent patellae, short stature, poor weight gain, and characteristic facial features such as high forehead, micrognathism with full lips and small mouth, and accentuated nasolabial folds (smile wrinkles linking the nostrils to the labial commissure). Epidemiology Ear-patella-short stature syndrome is a rare condition, with less than 50 cases reported in the literature. Clinical description Other skeletal anomalies include dislocation of the elbow, slender ribs and long bones, abnormal modelling of the glenoid fossas with hooked clavicles, and clinodactyly. Bone age is significantly delayed and long bone epiphyses are flattened. Hypoplastic genitalia have been reported in affected boys and girls. Some patients have severe deafness, which may impair neuromotor and mental development, and cognitive ability may be subnormal.
- Meier-Gorlin Syndrome 5 OMIM
  
  A number sign (#) is used with this entry because of evidence that Meier-Gorlin syndrome-5 (MGORS5) is caused by homozygous mutation in the CDC6 gene (602627) on chromosome 17q21. One such patient has been reported. For a general phenotypic description and a discussion of genetic heterogeneity of Meier-Gorlin syndrome, see 224690. Clinical Features Bongers et al. (2001) described a 4.5-year-old boy, born of nonconsanguineous Gypsy parents from France, who had weight, length, and head circumference all below the 3rd centile at birth; he also had bilateral microtia, a small triangular face, and a submucous cleft palate, with gastroesophageal reflux and feeding problems in the first year of life. At 4 years of age, his height, weight, and head circumference were still below the 3rd centile; additional craniofacial anomalies included a prominent metopic suture, long philtrum, full lips, small teeth, micrognathia, bilateral absent helices, hypoplastic lobules, and small external ear canals. He had micropenis and cryptorchidism, fifth finger and toe clinodactyly, and hypermobility of the fingers, elbows, shoulders, and knees; absence of the patellae was confirmed by radiography and ultrasonography.
- Meier-Gorlin Syndrome 7 OMIM
  
  A number sign (#) is used with this entry because of evidence that Meier-Gorlin syndrome-7 (MGORS7) is caused by homozygous or compound heterozygous mutation in the CDC45 gene (603465) on chromosome 22q11. For a general phenotypic description and a discussion of genetic heterogeneity of Meier-Gorlin syndrome, see 224690. Clinical Features Fenwick et al. (2016) studied 15 patients from 12 families with biallelic mutations in the CDC45 gene whose features ranged from syndromic coronal craniosynostosis to severe growth restriction, fulfilling diagnostic criteria for Meier-Gorlin syndrome. There were 10 patients from 8 families who presented with the classic triad of Meier-Gorlin syndrome features, including short stature, microtia, and absent or hypoplastic patellae, but craniosynostosis was also frequent in those patients. The severity of craniosynostosis varied widely, from unilateral or bilateral coronal synostosis to multiple suture involvement, and there was discordance for craniosynostosis in 2 brothers with the same mutation, indicating reduced penetrance for the feature.
Primary Hypomagnesemia With Secondary Hypocalcemia Orphanet

Etiology Mutations in the gene TRPM6 (9q21.13), encoding the transient receptor potential cation channel subfamily M, member 6, have been found to be responsible for this disease The pathophysiological hallmark of PHSH is the impaired intestinal absorption of magnesium (Mg) accompanied by renal Mg wasting as a result of a reabsorption defect in the distal convoluted tubule. ... Diagnostic methods Diagnosis relies on laboratory findings which reveal severely reduced serum Mg levels accompanied by hypocalcemia and barely detectable PTH levels. ... Renal defects may be detected after an intravenous Mg load test. The diagnosis is confirmed by genetic screening of TRPM6 . ... Management and treatment Management is mainly symptomatic and the standard treatment consists of the exclusive and lifelong administration of Mg. During manifestations, intravenous or intramuscular administrations are preferred, whereas maintenance therapy usually consists of an oral administration of high doses of Mg. However, because of gastrointestinal side effects, some patients require additional parenteral Mg. Prognosis Prognosis of PHSH depends on the rapidity of diagnosis.

TRPM6, TRPM7, ACTN4, VEGFD, PKD2, CLDN16
- Primary Hypomagnesemia With Secondary Hypocalcemia GARD
  
  Familial hypomagnesemia with secondary hypocalcemia is a disease characterized by very low magnesium levels in the blood. The disease begins during the first months of life with generalized and recurrent seizures which do not improve with usual treatment. Additional features include tetany ( spasms of the hands and feet, cramps, spasm of the voice box (larynx), and overactive neurological reflexes), failure to thrive, restlessness, tremors, muscle spasms, and bluish skin around the mouth (perioral cyanosis). Abnormal heart rhythm ( cardiac arrhythmia ) may be observed. The low levels of magnesium result in low levels of parathyroid hormone (PTH) and in low levels of calcium in the bloods ( hypocalcemia ). It is caused by mutations in the TRPM6 gene. Inheritance is autosomal recessive.
- Hypomagnesemia With Secondary Hypocalcemia Wikipedia
  
  Hypomagnesemia with secondary hypocalcemia Specialty Endocrinology Hypomagnesemia with secondary hypocalcemia (HSH) is an autosomal recessive genetic disorder affecting intestinal magnesium absorption. Decreased intestinal magnesium reabsorption and the resulting decrease in serum magnesium levels is believed to cause lowered parathyroid hormone (PTH) output by the parathyroid gland . This results in decreased PTH and decreased serum calcium levels (hypocalcemia). This manifests in convulsions and spasms in early infancy which, if left untreated, can lead to mental retardation or death. HSH is caused by mutations in the TRPM6 gene. Contents 1 Pathophysiology 2 Diagnosis 3 Treatment 4 History 5 See also 6 References 7 Footnotes 8 External links Pathophysiology [ edit ] HSH is caused by decreased intestinal magnesium reabsorption through TRPM6 channels.
- Hypomagnesemia With Secondary Hypocalcemia MedlinePlus
  
  This gene provides instructions for making a protein that acts as a channel, which allows charged atoms (ions) of magnesium (Mg 2+ ) to flow into cells; the channel may also allow small amounts of calcium ions (Ca 2+ ) to pass into cells. ... When the body has sufficient or too much Mg 2+ , the TRPM6 channel does not filter out the Mg 2+ from fluids but allows the ion to be released from the kidney cells into the urine. ... A loss of functional TRPM6 channels prevent Mg 2+ absorption in the intestine and cause excessive amounts of Mg 2+ to be excreted by the kidneys and released in the urine. A lack of Mg 2+ in the body impairs the production of parathyroid hormone, which likely reduces blood Ca 2+ levels. ... If the condition is not effectively treated and low Mg 2+ levels persist, signs and symptoms can worsen over time and may lead to early death.
- Hypomagnesemia 1, Intestinal OMIM
  
  Serum magnesium levels at initial presentation ranged from 1.2 to 0.8 mg% (normal 1.4-2.6 mg%) and serum calcium levels of 2.7-7.6 mg% (normal 8.4-10.8 mg%). ... Lainez et al. (2014) noted that diagnosis of this disorder is sometimes delayed because renal Mg(2+) wasting is not detectable during periods of profound hypomagnesemia.
Myasthenia Gravis With Thymus Hyperplasia OMIM

Myasthenia gravis (MG; see 254200) is an autoimmune disease of the neuromuscular junction that is often found in association with other autoimmune disorders. Association studies using case-control designs, i.e., comparisons of unrelated patients and control subjects, had demonstrated an increased frequency of the extended HLA haplotype A1-B8-DR3 (8.1) in Caucasian MG patients with thymus hyperplasia, in women, and in patients with an early onset of disease (Fritze et al., 1974; Vieira et al., 1993; Machens et al., 1999). To reevaluate the association of HLA with MG in 656 patients with generalized disease, and to test linkage of HLA to MG with thymus hyperplasia, Giraud et al. (2001) studied transmission of parental alleles to MG offspring with thymus hyperplasia in simplex (single-case) families using the transmission/disequilibrium test (TDT) as a test of linkage. Their results indicated linkage of HLA to MG with thymus hyperplasia, defining a locus on chromosome 6p21.3 that they designated MYAS1. They found that DR3 and DR7, or closely linked genes, had opposing effects on MG phenotypes. MG with thymus hyperplasia was positively associated with DR3 and negatively associated with DR7, based on both case-control comparisons and TDT.

CFB, HLA-B, MUSK, HLA-DPB1, POMC, FAS, HLA-DRB1, HLA-DQA1, PTPN22, HLA-A, TNIP1, C2, IL10, NFKBIL1, ZNRD1, MUC21, SFTA2, HCG9, PSORS1C1, CTLA4, NOTCH4, MUCL3, CYP21A2, RBM45, BTNL2, GPSM3, MSH5, TSBP1, MICB, LRP4, TRIM31, POU5F1, HLA-DQA2, RNF39, GABBR1, VARS2, LINC00243, ABCF1, IFNG, MSH5-SAPCD1, HCG17, TNFRSF11A, TCF19, BCHE, ATP6V1G2, STK19, TNF, HCG18, GPANK1, SEMA5A, TTN, TSBP1-AS1, RBBP8, ACHE, PRRC2A, CXCL13, IL17A, IL2RA, IL6, ISG20, EIF3K, IL2, FOXP3, AIRE, IL4, CHRNA1, TRBV20OR9-2, HLA-DQB1, THM, LTA, IL1B, CD274, IL22, PDCD1, IL21, TLR9, CHRNE, IL1A, MIR150, AQP4, HT, TGFB1, CDR3, ECD, MIR21, DOK7, TLR4, CD40, TLR3, MBP, CCL21, CHRNA4, TAP2, CXCR4, IGHG3, IFNB1, MAPK1, PDLIM7, IL18R1, IL15, EBI3, IL4R, SMN1, CXCL10, IFNA13, TLR7, TNFRSF13C, FGFR3, MIR146A, ESR1, TSLP, CD40LG, GNAO1, DNMT3B, HLA-DQB2, CAV3, IL23A, MIR125A, ADRB2, IFNA1, IFN1@, HMGB1, C4orf3, DIPK1A, SOCS3, LGI1, MSC, SCO2, CD83, GRAP2, MIR145, MIRLET7C, NTN1, MIR155, PPP6R2, MIR143, MBTPS1, MIR15B, SCFV, LOC102723407, IFNG-AS1, LINC-ROR, C4B_2, C20orf181, TEC, CCR2, DDX39B, MIR653, MIR323B, MIR19B1, MIR338, AIMP2, FOSL1, MIR320A, USO1, TNFRSF25, MIR30E, MALAT1, TNFSF10, DDX39A, RMDN2, MYAS1, CCAR2, RNF19A, CNTNAP2, HIF3A, ROBO3, POLDIP2, IFIH1, IGAN1, B3GAT1, DPYSL5, PART1, RETN, IGHV3-52, TWNK, MSL2, KRT20, ICOS, SLC25A37, VAV1, TMEM109, PPP1R15A, PRSS16, UNC5A, CLEC4C, CDIPT, NXF1, MZB1, TRIM9, AHSA1, IL17F, IL33, TNFSF13B, DDX58, CCR9, FHDC1, LILRB1, FAM136A, SLC7A9, TBC1D9, ICOSLG, SEC14L2, VIP, RAF1, UTRN, CNTFR, CRK, MAPK14, CSF1, CCN2, CTSV, CTSS, CYP3A5, CD55, BRINP1, DCC, DNMT3A, ATN1, TYMP, CTTN, ERBB4, ESR2, FCGR2A, FLNB, FOS, FOSB, CXCR3, GRIA2, GRM2, CXCL1, GZMB, HLA-C, HLA-DOA, HLA-DPA1, HLA-DRB3, CR2, CCR7, HNMT, CCR5, ADCYAP1, AGER, ALB, APOE, APRT, ABCC6, BCL2, TNFRSF17, BDNF, C4A, C4B, C5, CA3, CACNA1S, CALCA, CALCR, CAMP, CASP1, CASP3, CD19, MS4A1, CD28, CD86, CD69, CDS1, CHRNB1, CHRND, CLC, CCR4, HLA-G, HOXD13, TYMS, NTRK1, P2RX7, PAM, PAX7, ABCB1, PMP22, MAPK3, PTPRC, PLAAT4, RELB, S100A8, S100A11, S100B, SCN4A, SCO1, CCL5, CCL17, CCL22, CXCL12, SGCA, SLAMF1, SMN2, SPP1, STAT3, STAT4, TAP1, THBS1, TNFAIP3, TNFSF4, TNFRSF4, OSM, NCAM1, HSPA5, MYOG, IRF8, IFNA2, IFNA17, IFNGR1, IGF1, IGF1R, IGFBP1, IGL, IL1RN, IL2RB, IL7R, IL9, IL12B, IL12RB2, INS, IRF4, ITGAX, JUN, JUNB, JUND, KIT, KRT5, LDLR, LGALS1, LGALS8, LIF, MEFV, MFAP1, MMP10, LOC102724971
- Myasthenia Gravis MedlinePlus
  
  Myasthenia gravis is a disorder that causes weakness of the skeletal muscles, which are muscles that the body uses for movement. The weakness most often starts in the muscles around the eyes, causing drooping of the eyelids (ptosis) and difficulty coordinating eye movements, which results in blurred or double vision. In a form of the disorder called ocular myasthenia, the weakness remains confined to the eye muscles. In most people with myasthenia gravis, however, additional muscles in the face and neck are affected. Affected individuals may have unusual facial expressions, difficulty holding up the head, speech impairment (dysarthria), and chewing and swallowing problems (dysphagia) that may lead to choking, gagging, or drooling.
- Myasthenia Gravis OMIM
  
  In Finland, Pirskanen (1977) found 264 patients with MG of whom 19 (17 females and 2 males) were familial cases from 8 families: 11 sibs, 2 mother-offspring and 6 cousins. ... An increase in 'connective tissue disease' and thyroid disease was observed in the families of both familial and nonfamilial MG. The author concluded that the familial predisposition may be due to autoimmunity in general (see 109100). ... Using microarray analysis, Feferman et al. (2005) found increased expression of Cxl10 (147310) and its receptor, Cxcr3 (300574), in lymph node cells of rats with experimental autoimmune MG. Real-time RT-PCR, FACS, and immunohistochemistry analyses confirmed these findings and revealed upregulated expression of another Cxcr3 chemoattractant, Cxcl9 (601704), and of Tnf (191160) and Il1b (147720), which act synergistically with Ifng (147570) to induce Cxcl10, in both lymph node cells and muscle of myasthenic rats. ... Using RT-PCR, flow cytometric, and fluorescence microscopy analyses, Feferman et al. (2005) found increased expression of CXL10 and CXCR3 in thymus and muscle of MG patients compared with age-matched controls, validating their findings in the rat model of MG. They concluded that CXCL10/CXCR3 signaling is associated with MG pathogenesis and proposed that CXCL10 and CXCR3 may serve as novel drug targets to treat MG.
- Myasthenia Gravis GARD
  
  Myasthenia gravis (MG) is a chronic autoimmune neuromuscular disease characterized by weakness of the skeletal muscles. ... Researchers believe that variations in certain genes may increase a person's risk to develop MG, but other factors likely also play a role. There is no cure for MG at this time, but treatment can significantly improve muscle weakness.
- Myasthenia Gravis Wikipedia
  
  Relatives of people with MG have a higher percentage of other immune disorders. [22] [23] The thymus gland cells form part of the body's immune system. ... Acutely, negative inspiratory force may be used to determine adequacy of ventilation; it is performed on those individuals with MG. [40] [41] Management [ edit ] Treatment is by medication and/or surgery. Medication consists mainly of acetylcholinesterase inhibitors to directly improve muscle function and immunosuppressant drugs to reduce the autoimmune process. [42] Thymectomy is a surgical method to treat MG. [43] Medication [ edit ] Neostigmine, chemical structure Azathioprine, chemical structure Worsening may occur with medication such as fluoroquinolones , aminoglycosides , and magnesium. [44] About 10% of people with generalized MG are considered treatment-refractory. [45] Autologous hematopoietic stem cell transplantation (HSCT) is sometimes used in severe, treatment-refractory MG. ... Both of these treatments have relatively short-lived benefits, typically measured in weeks, and often are associated with high costs, which make them prohibitive; they are generally reserved for when MG requires hospitalization. [49] [52] Surgery [ edit ] As thymomas are seen in 10% of all people with the MG, they are often given a chest X-ray and CT scan to evaluate their need for surgical removal of their thymus glands and any cancerous tissue that may be present. [18] [37] Even if surgery is performed to remove a thymoma, it generally does not lead to the remission of MG. [49] Surgery in the case of MG involves the removal of the thymus, although in 2013, no clear benefit was indicated except in the presence of a thymoma. [53] A 2016 randomized, controlled trial, however, found some benefits. [54] Physical measures [ edit ] People with MG should be educated regarding the fluctuating nature of their symptoms, including weakness and exercise-induced fatigue. ... Prevalence in the United States is estimated at between 0.5 and 20.4 cases per 100,000, with an estimated 60,000 Americans affected. [18] [58] Within the United Kingdom, an estimated 15 cases of MG occur per 100,000 people. [37] History [ edit ] The first to write about MG were Thomas Willis , Samuel Wilks, Erb, and Goldflam. [14] The term "myasthenia gravis pseudo-paralytica" was proposed in 1895 by Jolly, a German physician. [14] Mary Walker treated a person with MG with physostigmine in 1934. [14] Simpson and Nastuck detailed the autoimmune nature of the condition. [14] In 1973, Patrick and Lindstrom used rabbits to show that immunization with purified muscle-like acetylcholine receptors caused the development of MG-like symptoms. [14] Research [ edit ] Immunomodulating substances, such as drugs that prevent acetylcholine receptor modulation by the immune system, are currently being researched. [59] Some research recently has been on anti-c5 inhibitors for treatment research as they are safe and used in the treatment of other diseases. [60] Ephedrine seems to benefit some people more than other medications, but it has not been properly studied as of 2014. [7] [61] In the laboratory, MG is mostly studied in model organisms, such as rodents.
- Myasthenia Gravis Mayo Clinic
  
  Overview Myasthenia gravis (my-us-THEE-nee-uh GRAY-vis) causes muscles under your voluntary control to feel weak and get tired quickly. This happens when the communication between nerves and muscles breaks down. There's no cure for myasthenia gravis. Treatment can help with symptoms. These symptoms can include weakness of arm or leg muscles, double vision, drooping eyelids, and problems with speaking, chewing, swallowing and breathing. This disease can affect people of any age, but it's more common in women younger than 40 and in men older than 60.
- Myasthenia, Limb-Girdle, Autoimmune OMIM
  
  Clinical Features Among 314 patients with classic myasthenia gravis (MG; 254200), Oh and Kuruoglu (1992) found 12 (3.8%) who presented with chronic limb-girdle myasthenia. ... INHERITANCE - Isolated cases HEAD & NECK Eyes - Absence of ptosis - Absence of ophthalmoparesis MUSCLE, SOFT TISSUES - Muscle biopsy shows type 2 fiber atrophy NEUROLOGIC Peripheral Nervous System - Proximal muscle weakness due to defect at the neuromuscular junction - Proximal muscle wasting - Upper and lower limb involvement - EMG shows myogenic pattern with decreased motor unit potential amplitude - Shortened duration of motor unit potentials - Single nerve fiber EMG shows increased jitter (impaired neuromuscular transmission) - EMG shows decremental compound motor action potential (CMAP) response to repetitive nerve stimulation IMMUNOLOGY - Associated with autoimmune disorders (systemic lupus erythematosus 152700 and Hashimoto thyroiditis 140300 ) - Thymoma - Acetylcholine receptor (AChR) autoantibodies are found in a subset of patients NEOPLASIA - Thymoma LABORATORY ABNORMALITIES - Mildly increased serum creatine kinase MISCELLANEOUS - Adult onset (range 14 to 70 years) - Variable response to acetylcholinesterase inhibitors - Favorable response to immunotherapy - Acquired disorder - Distinct disorder from myasthenia gravis (MG, 254200 ) - Distinct disorder from familial limb-girdle myasthenia ( 254200 ) ▲ Close
- Myasthenia Gravis Orphanet
  
  Myasthenia gravis (MG) is a rare, clinically heterogeneous, autoimmune disorder of the neuromuscular junction characterized by fatigable weakness of voluntary muscles. ... A transient neonatal form causing hypotonia and feeding difficulties occurs in some newborns born to mothers with MG (transient neonatal myasthenia gravis; see this term). Congenital genetic forms of MG with a different pathogenesis also occur (congenital myasthenic syndrome, see this term). Etiology The exact pathogenesis is not known but MG is related to circulating antibodies to various muscle receptors, including acetylcholine receptor (AChR) and muscle-specific receptor tyrosine kinase (MuSK). ... These antibodies have been found to play a pathogenic role in all the forms of the disease. MG can also be drug induced (by D-penicillamine, interferon alpha, and bone marrow transplantation).
Side Effects Of Bicalutamide Wikipedia

4 months Interstitial pneumonitis Death Kawahara et al. (2009) 8 78 years Male 80 mg/day 8 months Interstitial pneumonitis Recovered Masago et al. (2011) 9 77 years Male ? 7 months Interstitial pneumonitis Death Song et al. (2014) 10 77 years Male >50 mg/day ~12 months Interstitial pneumonitis Death Molina Mancero et al. (2016) 11 79 years Male ? ... Interstitial pneumonitis Recovered Derichs et al. (2018) 14 86 years Male 150 mg/day 6 years Eosinophilic pneumonitis Recovered Umeojiako & James (2019) 15 75 years Male ? ... S2CID 207947815 . ^ Tyrrell CJ, Denis L, Newling D, Soloway M, Channer K, Cockshott ID (1998). "Casodex 10-200 mg daily, used as monotherapy for the treatment of patients with advanced prostate cancer. ... Testosterone (T), LH, E2 and SHBG levels increased on Bic, although only T changes on both doses and LH changes on Bic 100 mg were significantly different to controls (p<0.001).
Hypoascorbemia OMIM

Seven healthy volunteers were hospitalized for 4 to 6 months and consumed a diet containing less than 5 mg of vitamin C daily. Steady-state plasma and tissue concentrations were determined at 7 daily doses of vitamin C from 30 to 2,500 mg. ... The steep portion of the curve occurred between the 30- and 100-mg daily dose, the then-current recommended daily allowance (RDA) of 60 mg was on the lower third of the curve, the first dose beyond the sigmoid portion of the curve was 200 mg daily, and complete plasma saturation occurred at 1,000 mg daily. No vitamin C was excreted in the urine of 6 of 7 volunteers until the 100-mg dose was reached. At single doses of 500 mg and higher, bioavailability declined and the absorbed amount was excreted. Oxalate and urate excretion were elevated at 1,000 mg of vitamin C daily compared to lower doses. ... Safe doses of vitamin C are less than 1,000 mg daily, and vitamin C daily doses above 400 mg have no evident value.

GULOP, HP, TNF
- Scurvy GARD
  
  Scurvy is a condition that develops in people who do not consume an adequate amount of vitamin C in their diet. Although scurvy is relatively rare in the United States, it continues to be a problem in malnourished populations around the world (such as impoverished, underdeveloped third world countries). Early features of the condition include general weakness, fatigue and aching limbs. If left untreated, more serious problems can develop such as anemia, gum disease, and skin hemorrhages . Symptoms generally develop after at least 3 months of severe or total vitamin C deficiency.
Hypogonadism Wikipedia

Clomifene at much higher doses is used to induce ovulation and has significant adverse effects in such a setting. v t e Androgen replacement therapy formulations and dosages used in men Route Medication Major brand names Form Dosage Oral Testosterone a – Tablet 400–800 mg/day (in divided doses) Testosterone undecanoate Andriol, Jatenzo Capsule 40–80 mg/2–4x day (with meals) Methyltestosterone b Android, Metandren, Testred Tablet 10–50 mg/day Fluoxymesterone b Halotestin, Ora-Testryl, Ultandren Tablet 5–20 mg/day Metandienone b Dianabol Tablet 5–15 mg/day Mesterolone b Proviron Tablet 25–150 mg/day Buccal Testosterone Striant Tablet 30 mg 2x/day Methyltestosterone b Metandren, Oreton Methyl Tablet 5–25 mg/day Sublingual Testosterone b Testoral Tablet 5–10 mg 1–4x/day Methyltestosterone b Metandren, Oreton Methyl Tablet 10–30 mg/day Intranasal Testosterone Natesto Nasal spray 11 mg 3x/day Transdermal Testosterone AndroGel, Testim, TestoGel Gel 25–125 mg/day Androderm, AndroPatch, TestoPatch Non-scrotal patch 2.5–15 mg/day Testoderm Scrotal patch 4–6 mg/day Axiron Axillary solution 30–120 mg/day Androstanolone ( DHT ) Andractim Gel 100–250 mg/day Rectal Testosterone Rektandron, Testosteron b Suppository 40 mg 2–3x/day Injection ( IM or SC ) Testosterone Andronaq, Sterotate, Virosterone Aqueous suspension 10–50 mg 2–3x/week Testosterone propionate b Testoviron Oil solution 10–50 mg 2–3x/week Testosterone enanthate Delatestryl Oil solution 50–250 mg 1x/1–4 weeks Xyosted Auto-injector 50–100 mg 1x/week Testosterone cypionate Depo-Testosterone Oil solution 50–250 mg 1x/1–4 weeks Testosterone isobutyrate Agovirin Depot Aqueous suspension 50–100 mg 1x/1–2 weeks Testosterone phenylacetate b Perandren, Androject Oil solution 50–200 mg 1x/3–5 weeks Mixed testosterone esters Sustanon 100, Sustanon 250 Oil solution 50–250 mg 1x/2–4 weeks Testosterone undecanoate Aveed, Nebido Oil solution 750–1,000 mg 1x/10–14 weeks Testosterone buciclate a – Aqueous suspension 600–1,000 mg 1x/12–20 weeks Implant Testosterone Testopel Pellet 150–1,200 mg/3–6 months Notes: Men produce about 3 to 11 mg testosterone per day (mean 7 mg/day in young men).

TACR3, GNRHR, GNRH1, TAC3, NR0B1, LHB, FSHB, KISS1R, LEP, LEPR, NR5A1, KISS1, PRL, CYP19A1, SLC29A3, POLD1, CYP17A1, CGB3, CSHL1, FGFR1, GHRH, SOX2, ANOS1, POLR3A, PROKR2, FGF8, PROP1, CHD7, PROK2, POLR3B, PNPLA6, NSMF, NDN, SEMA3A, RNF216, HS6ST1, FGF17, SRY, GJB2, AXL, CCDC141, TYMP, WDR11, UBA6-AS1, TFR2, SRA1, PWAR1, SEMA3E, GTF2IRD1, NTN1, HJV, SNORD116-1, SNORD115-1, CTDP1, PWRN1, AIP, BAZ1B, HERC2, MKRN3-AS1, HESX1, PTCH2, TP63, LZTR1, MKRN3, WT1, CLIP2, FEZF1, DNAL4, ZMPSTE24, A2ML1, RBM28, IL17RD, MAGEL2, HDAC8, CDH23, DCAF17, SUFU, SOX10, SPRY4, LAS1L, DHH, RRM2B, TBL2, GPR101, RAB3GAP2, FLRT3, NPAP1, KAT6B, PLXND1, RAB3GAP1, MRAS, CBX2, LHX4, SOS1, RNU4ATAC, SOX9, OTX2, POU1F1, ELN, POLG, PMM2, PDGFB, PCSK1, GLI2, GTF2I, SIX6, PTPN11, HFE, NRAS, HSD17B3, NF2, IPW, MEN1, MAP3K1, KRAS, LMNA, PTCH1, RAD51, RAF1, SOX3, SOS2, SNRPN, ANK1, SMARCB1, BMP2, BRAF, RRAS, BRD2, RIT1, CTNNB1, DCC, RFC2, REV3L, DMRT1, DUSP6, RASA2, LIMK1, AR, GH1, ESRRB, GK, MPZ, SERPINA4, VDR, SHBG, PMP22, GGN, NRP2, BECN1, DAZ1, PDE5A, CTLA4, CBLL2, NEUROG3, S1PR1, CPE, IGSF10, S100A4, TYRO3, AMH, NRP1, POMC, CD274, SCO2, FGF2, FGF3, MUL1, FGF9, FGF10, MSTN, TUBB3, PRKN, NT5E, NGF, IGF1, STAR, MC4R, ADH5
- Hypogonadotropic Hypogonadism Wikipedia
  
  Hypogonadotropic hypogonadism Other names Secondary hypogonadism Hypogonadotropic hypogonadism (HH) , is due to problems with either the hypothalamus or pituitary gland affecting the hypothalamic-pituitary-gonadal axis (HPG axis). [1] Hypothalamic disorders result from a deficiency in the release of gonadotropic releasing hormone ( GnRH ), while pituitary gland disorders are due to a deficiency in the release of gonadotropins from the anterior pituitary . [1] GnRH is the central regulator in reproductive function and sexual development via the HPG axis. GnRH is released by hypothalamic neuroendocrine cells into the hypophyseal portal system acting on gonadotrophs in the anterior pituitary. [1] The release of gonadotropins, LH and FSH , act on the gonads for the development and maintenance of proper adult reproductive physiology. LH acts on Leydig cells in the male testes and theca cells in the female. FSH acts on Sertoli cells in the male and follicular cells in the female. Combined this causes the secretion of gonadal sex steroids and the initiation of folliculogenesis and spermatogenesis .
Morning Glory Syndrome GARD

Morning glory syndrome (MGS) is a birth (congenital) defect of the nerve of the eye (optic nerve) that resembles a flower known as "morning glory". ... Symptoms include very poor vision in the affected eye with poor visual acuity . MGS may occur by itself or along with other eye abnormalities, such as crossed eyes (strabismus) or lazy eye (amblyopia), or other non-ocular problems like brain disorders. Typically, individuals with non-ocular findings also have a wide head, depressed nasal bridge, and mid upper lip defect or cleft. MGS seems to be caused from failure of the optic nerve to completely form when the baby is developing. The most severe complication is retinal detachment , and can occur in about 26–38% of people with MGS. The MGS is sometimes misdiagnosed as an optic nerve coloboma .

PAX6, PLXNA2, SMO
- Coloboma Of Optic Nerve OMIM
  
  A number sign (#) is used with this entry because of evidence that coloboma of the optic nerve and morning glory disc anomaly are each caused by mutation in the PAX6 gene (607108). One such patient has been reported for each of the phenotypes. Clinical Features Congenital coloboma of the optic nerve is often associated with serious detachment of the macula. Savell and Cook (1976) observed 15 affected persons in 1 kindred. In 21 of the 30 eyes, present or past detachment of the retina was found. The coloboma was bilateral in all. It appeared as enlargement of the physiologic cup with severely affected eyes showing huge cavities at the site of the disc. A variable amount of glial tissue was present in the coloboma. No male-to-male transmission was observed.
- Morning Glory Disc Anomaly Orphanet
  
  A congenital optic disc anomaly characterized by a funnel shaped excavation of the posterior fundus that incorporates the optic disc. Clinically, the optic disc malformation resembles the morning glory flower. Morning glory disc anomaly (MGDA) is usually unilateral and often results in a decrease in best-corrected visual acuity (BCVA). MGDA can be isolated or associated with other ocular or non-ocular anomalies. Epidemiology The overall prevalence of MGDA is unknown, but it is estimated at 1/38,500 among subjects between 2 and 19 years old in Sweden.
Iron Deficiency Wikipedia

Signs and symptoms in children [ edit ] pale skin fatigue slowed growth and development poor appetite behavioral problems abnormal rapid breathing frequent infection Iron requirements in young children to teenagers [ edit ] Age group Recommended amount of iron a day [7] 7 – 12 months 11 mg 1 – 3 years 7 mg 4 – 8 years 10 mg 9 – 13 years 8 mg 14 – 18 years, girls 15 mg 14 – 18 years, boys 11 mg Causes [ edit ] blood loss ( hemoglobin contains iron) donation excessive menstrual bleeding non-menstrual bleeding bleeding from the gastrointestinal tract ( ulcers , hemorrhoids , ulcerative colitis , stomach or colon cancer , etc.) rarely, laryngological bleeding or from the respiratory tract inadequate intake (see below) substances (in diet or drugs) interfering with iron absorption Fluoroquinolone antibiotics [8] malabsorption syndromes inflammation where it is adaptive to limit bacterial growth in infection, but is also present in many other chronic diseases such as Inflammatory bowel disease and rheumatoid arthritis parasitic infection Though genetic defects causing iron deficiency have been studied in rodents, there are no known genetic disorders of human iron metabolism that directly cause iron deficiency. ... Additionally, athletes in sports that emphasize weight loss (e.g. ballet , gymnastics , marathon running , and wrestling ) as well as sports that emphasize high- carbohydrate , low- fat diets, may be at an increased risk for iron deficiency. [9] [10] Inadequate intake [ edit ] A U.S. federal survey of food consumption determined that for women and men over the age of 19, average iron consumption from foods and beverages was 13.1 and 18.0 mg/day, respectively. For women, 16% in the age range 14–50 years consumed less than the Estimated Average Requirement (EAR), for men ages 19 and up, fewer than 3%. [11] Consumption data were updated in a 2014 U.S. government survey and reported that for men and women ages 20 and older the average iron intakes were, respectively, 16.6 and 12.6 mg/day. [12] People in the U.S. usually obtain adequate amounts of iron from their diets. ... Reflecting this link between iron bioavailability and bacterial growth, the taking of oral iron supplements in excess of 200 mg/day causes a relative overabundance of iron that can alter the types of bacteria that are present within the gut. ... Recent research suggests the replacement dose of iron, at least in the elderly with iron deficiency, may be as little as 15 mg per day of elemental iron. [21] Food sources [ edit ] Mild iron deficiency can be prevented or corrected by eating iron-rich foods and by cooking in an iron skillet. ... Arbitrarily, the guideline is set at 18 mg, which is the USDA Recommended Dietary Allowance for women aged between 19 and 50. [29] Abstract: richest foods in heme iron Food Serving size Iron % guideline clam [a] 100g 28 mg 155% pork liver 100g 18 mg 100% lamb kidney 100g 12 mg 69% cooked oyster 100g 12 mg 67% cuttlefish 100g 11 mg 60% lamb liver 100g 10 mg 57% octopus 100g 9.5 mg 53% mussel 100g 6.7 mg 37% beef liver 100g 6.5 mg 36% beef heart 100g 6.4 mg 35% Abstract: richest foods in non-heme iron Food Serving size Iron % guideline raw yellow beans 100g 7 mg 35% spirulina 15g 4.3 mg 24% falafel 140g 4.8 mg 24% soybean kernels 125ml=1/2cup 4.6 mg 23% spinach 125g 4.4 mg 22% lentil 125ml=1/2cup 3.5 mg 17.5% treacle (CSR Australia) 20ml=1Tbsp 3.4 mg 17% molasses (Bluelabel Australia) 20ml=1Tbsp 1.8 mg 9% candied ginger root 15g~3p 1.7 mg 8.5% toasted sesame seeds 10g 1.4 mg 7% cocoa (dry powder) 5g~1Tbsp .8 mg 4% Food recommendations for children [ edit ] Children at 6 months should start having solid food that contains enough iron, which could be found in both heme and non-heme iron [33] Heme iron : Red meat (for example, beef, pork, lamb, goat, or venison) Fatty fish Poultry (for example, chicken or turkey) Eggs Non-heme iron : Iron-fortified infant cereals Tofu Beans and lentils Dark green leafy vegetables Iron deficiency can have serious health consequences that diet may not be able to quickly correct; hence, an iron supplement is often necessary if the iron deficiency has become symptomatic.

EPO, TMPRSS6, SLC11A2, HFE, TFRC, HAMP, CRP, FGF23, HBA2, CHMP2B, DMRT1, HIF1A, IL1B, SLC40A1, EPAS1, HEPH, PMCH, BDNF, HBA1, CP, AIF1, RET, IREB2, IL6, SLC39A1, ATF4, PARP3, RN7SL263P, HMOX1, TNF, ALB, IDUA, FECH, LCN2, ACAD8, FXN, ERFE, BDH2, CYBRD1, RLS1, TFR2, TDGF1P3, ACO1, RPP14, ZFP36, SUB1, PPARGC1A, AHSA1, AIMP2, KHSRP, STK16, AKR1A1, CDKL1, BCAP31, CDK2AP2, GRAP2, DNALI1, HDAC3, EIF2S2, SLC39A7, NOL3, GOSR1, XPR1, MLLT10, PSIP1, GSTO1, ABCG2, ABO, SETD2, SIRT2, SLC36A1, ZGPAT, COX19, SLC46A1, CYGB, OLIG1, HJV, IL27, XYLT2, COPD, SLC39A5, CYCSP51, NUP43, H3P8, H3P24, HHIP, NLN, JMJD6, UBE2D1, CRTC1, CDK20, RNF19A, POLDIP2, SIGLEC7, LAMTOR2, TMED5, SLC39A10, SLC25A37, NCKIPSD, SF3B6, NANS, AHI1, SMARCAD1, VHL, SST, TYS, CUX1, DNAH8, EBF1, EDN1, EIF2S1, EIF2S3, ESR1, ETV3, G6PD, GATA1, GPI, HCLS1, HP, PRMT1, IFNG, IGF1, DAPK3, CTSL, TTR, MAPK14, ACP5, APEX1, ARG1, ARSA, ATP4A, BACH1, BSG, CAT, CCK, CDKN2A, CENPF, CLN3, SLC31A1, CRK, CRYGD, IL1A, IL2RB, CXCL8, SMAD1, RPL29, S100A9, TSPAN31, SAT1, SLC2A1, SLC11A1, SOD1, ST13, STAT3, STAT5A, STAT5B, CNTN2, TCF3, TNFRSF1B, TST, REN, PRPH2, PVALB, PDE7A, SMAD7, MMP9, MPO, NGF, NUCB2, REG3A, CFP, PTH, PPARG, MAPK1, PRNP, RELN, PSMC6, PSMD10, H3P30
Hypomagnesemia 6, Renal OMIM

In both families, the index patients had severely lowered serum Mg(2+) levels in the absence of other electrolyte disturbances, and affected individuals showed an inappropriately normal urinary Mg(2+) excretion, demonstrating a defect in tubular reabsorption. Stuiver et al. (2011) noted that although serum Mg(2+) levels in both probands and their affected parents were in the same decreased range, there was remarkable variability in the age of clinical (symptomatic) onset of disease: in the Dutch proband, onset of clinical disease was at 2 years of age, whereas in her father it was at 15 years of age, and in the Czech family, the affected mother was asymptomatic. ... INHERITANCE - Autosomal dominant GENITOURINARY Kidneys - Defect in renal tubular reabsorption of Mg(2+) MUSCLE, SOFT TISSUES - Muscle weakness NEUROLOGIC Central Nervous System - Headaches - Vertigo LABORATORY ABNORMALITIES - Low levels of serum Mg(2+) in the absence of other electrolyte disturbances MISCELLANEOUS - Variable presentation of clinical features - Some people with a CNNM2 mutation are asymptomatic MOLECULAR BASIS - Caused by mutation in the cyclin M2 gene (CNNM2, 607803.0001 ) ▲ Close

CNNM2
Hypoglycemia Wikipedia

Research in healthy adults shows that mental efficiency declines slightly but measurably as blood glucose falls below 3.6 mmol/l (65 mg/dl). Hormonal defense mechanisms ( adrenaline and glucagon ) are normally activated as it drops below a threshold level (about 3.0 mmol/l (55 mg/dl) for most people), producing the typical hypoglycemic symptoms of shakiness and dysphoria . [10] : 1589 Obvious impairment may not occur until the glucose falls below 2.2 mmol/l (40 mg/dl), and many healthy people may occasionally have glucose levels below 3.6 mmol/l (65 mg/dl) in the morning without apparent effects. ... In most people, subtle reduction of mental efficiency can be observed when the glucose falls below 3.6 mmol/l (65 mg/dl). Impairment of action and judgment usually becomes obvious below 2.2 mmol/l (40 mg/dl). ... As blood glucose levels fall below 0.55 mmol/l (10 mg/dl), most neurons become electrically silent and nonfunctional, resulting in coma . ... Throughout a 24‑hour period, blood plasma glucose levels are generally maintained between 4 and 8 mmol/l (72 and 144 mg/dl). [17] : 11 Although 3.3 or 3.9 mmol/l (60 or 70 mg/dl) is commonly cited as the lower limit of normal glucose, symptoms of hypoglycemia usually do not occur until 2.8 to 3.0 mmol/l (50 to 54 mg/dl). [18] In cases of recurrent hypoglycemia with severe symptoms, the best method of excluding dangerous conditions is often a diagnostic fast. ... If IV access cannot be established, the person can be given 1 to 2 mg of glucagon in an intramuscular injection .

ABCC8, IGF2, SERAC1, HNF1A, INS, IL1B, TNF, SOD2, CACNA1C, GSR, SERPINA1, PPARA, CRH, PNMT, TH, GH1, GRIN2B, IGF1, G6PC, INSR, KCNJ11, HNF4A, ACADM, CPT1A, HADHA, GHSR, TANGO2, PGM1, HADH, PC, SETD2, AGL, PCK1, NR3C1, MEN1, MPI, TFAM, DBH, EIF2AK3, EIF2S3, ETFDH, NDUFS2, PTEN, FBP1, UQCRC2, GHR, SLC22A5, SLC37A4, HMGCL, UQCRB, NFKB2, PURA, GLI2, GLP1R, MPC1, NBAS, HSD17B10, NR1H4, PYGL, NDUFAF1, ROBO1, HMGCS2, TIMMDC1, HRAS, MRPS2, SEPSECS, RARB, WARS2, KCNMA1, NDUFS3, NDUFS4, NDUFS6, NDUFS8, NDUFV2, PPP2R5D, NOTCH3, OTC, OTX2, PPM1B, PCCA, PCCB, PCK2, NNT, GPR161, PHKA2, POU1F1, MLYCD, NDUFV1, NDUFS1, MRPS7, NDUFB10, CDON, PROP1, NDUFAF4, ACAD9, LRPPRC, APC2, NDUFB11, NDUFAF3, MPV17, MTO1, ND1, ND2, ND3, NDUFA1, NDUFA6, NDUFB3, NDUFB9, GPC3, GJA1, GK, PROKR2, SLC35A2, CA5A, SLC25A20, MICOS13, COG7, NDUFAF2, LHX4, COG8, NUBPL, CAMKMT, EHMT1, CYB561, NDUFAF5, DBT, CTDP1, DGUOK, DLD, NDUFA11, SGPL1, NSD1, BCS1L, ACADSB, KCNMA1-AS1, ACAT1, SUCLG1, ZGLP1, UQCC3, HESX1, ALDOB, NDUFS7, GOLGA6A, PTF1A, ACSF3, ATP5F1D, ATP7A, AUH, BCKDHA, BCKDHB, DPP4, CYP21A2, MTOR, GALT, FAH, RCBTB1, GPC4, PNPO, SLC52A1, MCCC2, PREPL, GCDH, WDR11, GCG, RNF125, GCK, SLC5A2, SAMD9, SLC3A1, DMXL2, FOXRED1, POMC, SOX3, MCCC1, ETFA, ETFB, TMEM126B, CYP2C9, ALB, SLC2A4, ACE, DSPP, FFAR1, SI, MGAM, SLC2A1, AKT2, GLUD1, HIF1A, NPY, SST, VEGFA, PRL, PIK3CA, ADRB2, TXN, KCNH2, GPR119, SLC5A1, UCP2, SLC2A2, IGFBP3, NFE2L2, SELENBP1, MAPK8, PPP1R13L, SHBG, ADIPOQ, TXNIP, SLC2A3, RNH1, PRKAA1, REN, AKT3, PIK3CG, PIK3CD, KDR, APRT, BDNF, ANTXR2, CPT2, CHPT1, GABPA, GDF1, CCHCR1, SHC3, GPT, HK1, IAPP, IL6, GIP, ARFIP2, PIK3CB, MFAP1, DNM1L, KCNH6, ARID1B, KL, MTA2, SEMA6A, SLC16A7, LPAR2, PDIA2, FTO, DHDDS, SOCS3, DAPK2, RPAIN, TIGAR, SLC52A3, SORCS1, CXCR6, CPT1C, SLC39A14, TBPL2, MIR155, MIR665, EMSLR, RIPK1, IRS2, KHSRP, TMPRSS11D, ACKR3, SOCS7, SH3BP1, GAL, ERO1A, PIAS1, HNRNPDL, CRYL1, PADI1, HGH1, FGF19, SIRT6, GLS2, KEAP1, RAPGEF5, WWOX, UQCRQ, KMT2B, DCAF1, FGF21, ROBO4, BNC2, DEPP1, VPS13C, TUBB3, H6PD, TMEM132A, MARCHF1, DENR, ACADL, MLRL, AAAS, TIMM8A, DNMT1, ARID3A, DSC3, EDNRA, EGFR, ELAVL1, ENO1, ENO2, ERBB4, ESRRA, F2R, F3, FBN1, FGF1, FGF2, FOS, NR5A1, GCGR, GHRH, GHRHR, GIPR, GLA, GCLC, GPER1, GPR42, GRIN1, GSK3B, GYS1, CYP2C8, CTNNB1, CRMP1, BID, ACADVL, ADCY5, ADRA1A, ADRA2B, AHR, AIF1, AKT1, APOE, APP, AQP4, AQP7, ARNT, AVP, BRS3, CRIP1, C3, CALD1, CCND2, CD34, CD36, CD59, LRBA, CDH15, CEBPA, CHAT, CHGA, CKB, CREM, FOXA2, HNRNPC, HNRNPL, SSTR4, PRKAR1A, PSMB9, PTHLH, RAD21, RB1, RIT2, RORC, SELP, SIAH2, ST3GAL4, SLC16A1, SLC22A1, SREBF1, STAR, PRKAA2, STAT5A, STAT5B, SYK, TAP1, TCF7L2, TGM2, TP53, TRH, UGDH, UTRN, VCAM1, CNBP, KMT2D, PRKAB1, PPY, AGFG1, MC4R, HTC2, IFNG, IGFBP6, KCNQ1, KHK, KIT, LEP, LEPR, LGALS1, LIPE, LPL, SMAD3, MAFD2, MET, PTPA, NR3C2, MTHFR, NHS, NUCB2, P4HB, PECAM1, PFKFB3, ABCB1, PIK3R2, POR, POU2F1, PPARD, PPARG, LOC102723407
- Hypoglycemia Mayo Clinic
  
  For many people, a fasting blood sugar of 70 milligrams per deciliter (mg/dL), or 3.9 millimoles per liter (mmol/L), or below should serve as an alert for hypoglycemia. ... If the result shows low blood sugar (under 70 mg/dL ), treat according to your diabetes treatment plan. ... If blood sugar levels are still under 70 mg/dL (3.9 mmol/L ), eat or drink another 15 to 20 grams of fast-acting carbohydrate, and recheck your blood sugar level again in 15 minutes. Repeat these steps until the blood sugar is above 70 mg/dL (3.9 mmol/L ). Have a snack or meal.
Albuminuria Wikipedia

The nephrotic syndrome usually results in the excretion of about 3.0 to 3.5 grams per 24 hours. [ medical citation needed ] Nephritic syndrome results in far less albuminuria. [ medical citation needed ] Microalbuminuria (between 30 and 300 mg/24h, [2] mg/l of urine [3] or μg/mg of creatinine [4] ) can be a forerunner of diabetic nephropathy . The term albuminuria is now preferred in Nephrology since there is not a "small albumin" ( micro albuminuria) or a "big albumin" ( macro albuminuria). [5] A1 represents normal to mildly increased urinary albumin/creatinine ratio (<30 mg/g or < 3 mg/mmmol); A2 represents moderately increased urinary albumin/creatinine ratio (30–300 mg/g or 3–30 mg/mmmol, previously known as microalbuminuria ); and A3 reflects severely increased urinary albumin/creatinine ratio >300 mg/g or > 30 mg/mmol). [1] Diagnosis [ edit ] The amount of protein being lost in the urine can be quantified by collecting the urine for 24 hours, measuring a sample of the pooled urine, and extrapolating to the volume collected.

ACE, INS, TNF, PTGS2, NCK1, TSLP, REN, LEPR, IL6, GNAQ, SOD2, MIR130A, GPC5, MIR145, NPHS1, NPHS2, MIR155, CP, MIR424, CD38, NCK2, CASP1, PYCARD, AGT, TRPC3, TRPC6, SPP1, SH2B3, PDPN, AGER, LRP2, CSF1, ALB, EDN1, CYP11B1, CTSL, CTSB, RAB38, CASR, BAHCC1, HOTTIP, ARL15, LINC00862, CHD7, C2orf83, FBXL20, SHROOM3, SPATA5L1, ICA1L, SBF2, LRMDA, ADO, AK5, LINC02752, MAPKBP1, CPS1, CCT2, CWC27, USP3, SNX17, NRXN1, CUBN, AHR, AQP7, COL4A4, NMU, PEX1, MYL3, GALT, FUT1, CCL2, DCN, CCL5, SELP, VEGFA, ADD1
High Cholesterol Mayo Clinic

These conversions are based on U.S. guidelines. Below 200 mg/dL Below 5.2 mmol/L Desirable 200-239 mg/dL 5.2-6.2 mmol/L Borderline high 240 mg/dL and above Above 6.2 mmol/L High LDL cholesterol (U.S. and some other countries) LDL cholesterol* (Canada and most of Europe) Results *Canadian and European guidelines differ slightly from U.S. guidelines. ... Below 100 mg/dL Below 2.6 mmol/L Optimal for people at risk of coronary artery disease or who have diabetes. ... High if there is coronary artery disease. 160-189 mg/dL 4.1-4.9 mmol/L High if there is no coronary artery disease. ... These conversions are based on U.S. guidelines. Below 40 mg/dL (men) Below 1.0 mmol/L (men) Poor Below 50 mg/dL (women) Below 1.3 mmol/L (women) 40-59 mg/dL (men) 1.0-1.5 mmol/L (men) Better 50-59 mg/dL (women) 1.3-1.5 mmol/L (women) 60 mg/dL and above Above 1.5 mmol/L Best Triglycerides (U.S. and some other countries) Triglycerides* (Canada and most of Europe) Results *Canadian and European guidelines differ slightly from U.S. guidelines. These conversions are based on U.S. guidelines. Below 150 mg/dL Below 1.7 mmol/L Desirable 150-199 mg/dL 1.7-2.2 mmol/L Borderline high 200-499 mg/dL 2.3-5.6 mmol/L High 500 mg/dL and above Above 5.6 mmol/L Very high Children and cholesterol testing For most children, the National Heart, Lung, and Blood Institute recommends one cholesterol screening test between the ages of 9 and 11, and then be repeated every five years after that.

CYP27A1, LDLR, MIR6886
Hyperlipoproteinemia, Type Id OMIM

The hyperlipidemia was partially responsive to diet; fasting plasma triglyceride levels fell from as high as 3,366 mg/dL to as low as 744 mg/dL when the patient adhered to a fat-free diet. ... Gonzaga-Jauregui et al. (2014) reported a 5-week-old Hispanic girl who presented with severe hypertriglyceridemia (triglycerides, 12,031 mg/dL) and a combination of lower gastrointestinal bleeding and chylomicronemia. Initial colonoscopy was consistent with colitis, which resolved with reduction of triglycerides. She had a low HDL of 11 mg/dL and reduced LPL activity. Plengpanich et al. (2014) reported 3 sibs with chylomicronemia. Their plasma triglycerides ranged from 673 to 3,164 mg/dL, and HDL cholesterol was lowered to 16, 32, and 13, respectively. The proband was identified at 40 years of age after presenting with epigastric discomfort and a plasma triglyceride level of 2,050 mg/dL. Her BMI was normal, and her fasting plasma triglyceride level at 46 years of age was 3,164 mg/dL.

GPIHBP1
Scrub Typhus Orphanet

Doxycycline is administered for a short time (3-7 days) in adults (200 mg/day) and children (2.2 mg/kg, twice daily). ... Patients with poor response to doxycycline and chloramphenicol, as well as pregnant women, can be treated with rifampicin (600-900 mg/day) or azithromycin (500 mg on the first day, then 250 mg/day).

PRDX2, IFNG, TLR4, TNF, IL6, HSPD1, ALB, MAPK1, RELA, CCL2, SYT1, TLR2, VWF, XPO1, AIMP2, COPB2, GRAP2, GNLY, AHSA1, GPR182, RNF19A, POLDIP2, HAVCR1, HSPA14, ATG3, GORASP1, WNK1, NLRC5, LRSAM1, HTRA1, LAMC2, LCN2, GPT, CRP, MAPK14, CSF2, SLC25A10, HBEGF, EMD, F2, FOS, FOSB, GAPDH, GCY, CXCL2, CRK, HLA-A, HLA-C, HMGB1, IFNA1, IFNA13, IFNB1, IL1B, IL10, JUN, JUNB, JUND, PPP1R42
- Scrub Typhus Wikipedia
  
  Scrub typhus Other names Bush typhus Orientia tsutsugamushi Specialty Infectious disease Scrub typhus or bush typhus is a form of typhus caused by the intracellular parasite Orientia tsutsugamushi , a Gram-negative α-proteobacterium of family Rickettsiaceae first isolated and identified in 1930 in Japan. [1] [2] Although the disease is similar in presentation to other forms of typhus , its pathogen is no longer included in genus Rickettsia with the typhus bacteria proper, but in Orientia . The disease is thus frequently classified separately from the other typhi. Contents 1 Signs and symptoms 2 Causes 3 Diagnosis 4 Treatment 5 Vaccine 6 History 7 See also 8 References 9 External links Signs and symptoms [ edit ] Signs and symptoms include fever , headache , muscle pain, cough , and gastrointestinal symptoms . More virulent strains of O. tsutsugamushi can cause hemorrhaging and intravascular coagulation . Morbilliform rash, eschar , splenomegaly , and lymphadenopathies are typical signs.
Pyridoxine-Dependent Epilepsy Wikipedia

The disorder was first recognized in the 1950s, with the first description provided by Hunt et al. in 1954. [1] [2] [3] More recently, pathogenic variants within the ALDH7A1 gene have been identified to cause PDE. [1] [2] [3] [4] Contents 1 Genetics 2 Treatment 3 Monitoring 4 References 5 External links Genetics [ edit ] PDE is inherited in an autosomal recessive manner and is estimated to affect around 1 in 400,000 to 700,000 births, though one study conducted in Germany estimated a prevalence of 1 in 20,000 births. [1] [2] The ALDH7A1 gene encodes for the enzyme antiquitin or α -aminoadipic semialdehyde dehydrogenase, which is involved with the catabolism of lysine . [1] [2] [4] [5] Treatment [ edit ] Patients with PDE do not respond to anticonvulsant medications, but seizures rapidly cease with therapeutic intravenous doses of Vitamin B6 and remission from seizures are often maintained on daily therapeutic doses of Vitamin B6. [1] [2] [5] An optimal dose has not yet been established, but doses of 50–100 mg/day or 15–30 mg/kg/day have been proposed. [1] [2] Importantly, excessive doses of vitamin B6 can result in irreversible neurological damage, and therefore several guidelines recommend between 200 mg (neonates) and 500 mg per day as the maximal daily dose. [1] [2] Despite remission of seizure activity with vitamin B6 supplementation, intellectual disability is frequently seen in patients with PDE. [2] [6] Because the affected enzyme antiquitin is involved in the cerebral lysine degradation pathway, lysine restriction as an additional treatment modality has recently been explored. Studies have been published which demonstrate potential for improved biomarkers, development, and behavior in patients treated with lysine restriction in addition to pyridoxine supplementation. [2] [6] In trial, lysine restriction of 70–100 mg/kg/day in children less than 1 year of age, 45–80 mg/kg/day in children between 1–7 years of age, and 20–45 mg/kg/day in children older than 7 years of age were prescribed. [6] Despite the potential of additional benefit from lysine restriction, vitamin B6 supplementation remains the main-stay of treatment given lack of studies thus far demonstrating the safety and efficacy of lysine restriction for this purpose.

ALDH7A1, PLPBP, SLC13A5, PRKG1, GLUL, VIM, PNPO, POLDIP2, RNF19A, TRS-AGA2-3, CRK, AHSA1, GRAP2, AIMP2, CRP, MAPK14, MAPK1, COL2A1, PPARG, IDH1, GUCY2C, GAD1, ERBB2, CSTB, STXBP1
- Pyridoxine-Dependent Epilepsy Orphanet
  
  A rare neurometabolic disease characterized by recurrent intractable seizures in the prenatal, neonatal and postnatal period that are resistant to anti-epileptic drugs (AEDs) but that are responsive to pharmacological dosages of pyridoxine (vitamin B6). Epidemiology The prevalence of Pyridoxine-dependent epilepsy (PDE) has been estimated to range from 1/20,000 to 1/783,000 live births. More than 200 cases have been reported in the literature to date. Clinical description Onset is classically fetal/neonatal but a later onset (>2 months) has also been reported. Patients present with epileptic encephalopathy manifesting with intractable seizures along with irritability, crying, poor feeding, gastrointestinal symptoms (emesis, abdominal distention), sleeplessness, facial grimacing and abnormal eye movements. Although prolonged seizures and recurrent episodes of status epilepticus are most common, recurrent self-limiting partial, generalized or atonic seizures, myoclonic events and infantile spasms can also occur.
- Pyridoxine-Dependent Epilepsy GARD
  
  Pyridoxine-dependent epilepsy is a condition that involves seizures beginning in infancy or, in some cases, before birth. Those affected typically experience prolonged seizures lasting several minutes (status epilepticus). These seizures involve muscle rigidity, convulsions, and loss of consciousness (tonic-clonic seizures). Anticonvulsant drugs, which are usually given to control seizures, are ineffective in people with pyridoxine-dependent epilepsy. Instead, people with this type of seizure are medically treated with large daily doses of pyridoxine (a type of vitamin B6 found in food).
- Pyridoxine-Dependent Epilepsy GeneReviews
  
  If a clinical response is not demonstrated, the dose should be repeated up to a maximum of 500 mg. A corresponding change should be observed in the EEG, although it may be delayed by several hours. Alternatively, in children who experience frequent antiepileptic drug-resistant self-limited seizures, oral pyridoxine at a dose of 30 mg/kg/day may be initiated. Children who are pyridoxine dependent should have a resolution of their clinical seizures within three to seven days. ... If a clinical response is not demonstrated, the dose should be repeated up to a maximum of 500 mg. A corresponding change should be observed in the EEG; in some circumstances, the change may be delayed by several hours. ... The recommended daily allowance (RDA) for pyridoxine is 0.5 mg for infants and 2 mg for adults. In general, individuals with pyridoxine-dependent epilepsy have excellent seizure control when treated with 50-100 mg of pyridoxine per day. ... Studies have indicated that higher doses may enhance intellectual development; it has been suggested that a dose of 15-30 mg/kg/day may be optimal [Baxter 2001, Stockler et al 2011] and that the dosage should not exceed 500 mg/day [Stockler et al 2011].
- Pyridoxine-Dependent Epilepsy MedlinePlus
  
  Pyridoxine-dependent epilepsy is a condition that involves seizures beginning in infancy or, in some cases, before birth. Those affected typically experience prolonged seizures lasting several minutes (status epilepticus). These seizures involve muscle rigidity, convulsions, and loss of consciousness (tonic-clonic seizures). Additional features of pyridoxine-dependent epilepsy include low body temperature (hypothermia), poor muscle tone (dystonia) soon after birth, and irritability before a seizure episode. In rare instances, children with this condition do not have seizures until they are 1 to 3 years old.