SARS-CoV-2 susceptibility and COVID-19 disease severity are associated with genetic variants affecting gene expression in a variety of tissues.

HHPP is a rare type of hypokalemic PP that can occur when there is hyperthyroidism.Thyrotoxic periodic paralysis is due to increased influx of potassium into skeletal muscle cells which leads to profound hypokalemia and paralysis. Insulin and Epinephrine are also responsible for stimulating the Na-K-ATPase pumps which are over expressed during hyperthyroid state. Laboratory hypokalemia in the background of hyperthyroidism with sudden symmetric paralysis point toward the diagnosis.We present a case of 25 year old male with limb weakness for 3hours following heavy dinner.He felt weakness after waking up in the morning where he could not move his both lower limbs. He also had difficulty moving upper limbs.Examination revealed proximal muscle weakness with power of 2/5, decreased muscle tone, diminished deep tendon reflexes in all four limbs and equivocal plantar reflex bilaterally. Investigation sent were Total Leukocyte count, Hemoglobin, Renal function test, Liver Function test,Thyroid function test, Vitamin B12, Serology, ACTH, Serum calcium, Serum phosphate, Serum magnesium, Urine R/ME and Stool R/ME.Patient is treated with 10mEq/L/hr infusion of potassium chloride, methimazole and beta-blockers. He is stable and is in regular followup in medicine OPD.Early diagnosis of HHPP is very essential to prevent fatal complications (cardiac and respiratory).It can be treated by timely potassium supplementation, methimazole and beta-blockers.Clinicians must be concerned about Hyperkalemia while supplementing Potassium in bed side. 

https://doi.org/10.1016/j.amsu.2022.103759

Case report: Hyperthyroid hypokalemic periodic paralysis

Autoimmune diseases (ADs) are common conditions in which an individual's immune system reacts against its healthy cells. This condition is a common cause of morbidity and mortality, with an estimated prevalence ranging from 5 per 100,000 to more than 500 per 100,000. According to the National Stem Cell Foundation (NSCF), ADs are prevalent in about 4% of the world's population, which creates a burden on society due to the high treatment cost. ADs show a clear gender bias with a higher prevalence among women, occurring at a rate of 2:1 female-to-male ratio. The etiology of ADs includes genetic and environmental factors. ADs are more likely to develop in genetically susceptible individuals. The higher concordance ratio between monozygotic twins compared to dizygotic twins or other siblings validates the role of genetic factors in the pathogenesis of many ADs. ADs diagnosis includes conventional immunoassay such as indirect immunofluorescence, complement fixation, passive agglutination, autoantibodies detection, and most recent advances, including multiplex platforms such as microspots, line-blot, addressable microbeads and barcoded nanoparticles that allow multiplex parallel testing of autoantibodies. ADs treatment includes biological and synthetic drugs that block many pathways and components of the immune system, including Janus kinase (JAK) inhibitors, non-receptor tyrosine-protein kinase (TYK2), and other cytokines. Generally, recent immune-modulatory drugs used in ADs treatment are non-disease specific with broad action and are associated with many side effects like infection and malignant diseases. Furthermore, gene therapy seeks to control the levels of proinflammatory cytokine molecules and lymphocyte infiltration through the delivery and expression of therapeutic genes. Recent genomic-wide association studies (GWAS) have allowed the identification of various genetic loci associated with disease susceptibility and have revealed candidate genes that can be used in targeted therapeutics. This review summarizes recent literature on the genetic factors associated with susceptibility to the 11 most common ADs, namely: Type 1 diabetes mellitus (T1DM), Multiple sclerosis (MS), Grave's disease, Sjögren's syndrome (SS), Celiac disease, Hashimoto's thyroiditis (HT), Anti-phospholipid syndrome (APS), Autoimmune hemolytic anemia, Rheumatoid arthritis (RA), Systemic lupus erythematosus (SLE), and Scleroderma (systemic sclerosis). 

Role of genetics in eleven of the most common autoimmune diseases in the post genome-wide association studies era.

We report a 31-year-old man of an Arabic ethnicity who presented to the Emergency Department (ED) with a one-night history of progressive generalized weakness followed by an inability to move all four limbs. The patient was found to have hypokalemia and hypophosphatemia. Detailed inpatient assessment revealed that the patient had undiagnosed Graves' disease with thyrotoxicosis causing electrolyte disturbances and paralysis. The patient's symptoms resolved after the correction of the electrolytes. In this case study, we report an unusual presenting symptom of paralysis of Graves' disease in a patient of Arabic ethnicity.

/pdf/thyrotoxicosis-periodic-paralysis-a-rare-presentation-of-a-1q7ukak4.pdf

Thyrotoxicosis Periodic Paralysis: A Rare Presentation of a Common Disease

Objective Thyrotoxic periodic paralysis (TPP) is a rare and potentially fatal complication of hyperthyroidism. By meta-analysis of genome-wide association studies, we aim to discover novel susceptibility loci and understand the pathogenesis of TPP. Methods This meta-analysis comprised 319 TPP cases and 3516 healthy controls from three independent cohorts (two from Hong Kong; one from Shanghai). Genetic variants in each cohort were separately genotyped, imputed and analyzed for association with TPP. Fixed-effect meta-analysis was performed to combine the data. Using the three independent genome-wide significant variants, a weighted genetic risk score (GRS) was developed. Results Of 7 077 246 variants tested for association with TPP, 260 variants reached genome-wide significance and were represented by independent variants from four distinct genomic loci, but a risk locus for Graves' disease at 6p21.33-p21.22 was excluded from subsequent analyses. Two novel loci near TRIM2 (4q31.3; rs6827197: OR = 4.075; P = 3.46 × 10-9) and AC140912.1 (16q22.3; rs6420387: OR = 1.861; P = 2.66 × 10-8) were identified. Together with previously reported KCNJ2 (17q24.3; rs312743: OR = 2.564; P = 1.15 × 10-21), the three susceptibility variants explained 4.36% of the genetic liability. Expression quantitative trait loci analyses showed the variants altered expression of TRIM2 in nerve and KCNJ2 in skeletal muscle. The weighted GRS had an area under curve of 0.827 and 0.682 in the derivation and validation cohorts in Hong Kong. Conclusions We identified two novel TPP risk loci near TRIM2 and AC140912.1. While rare mutations in TRIM2 and KCNJ2 were implicated in monogenic disorders characterized by muscle paralysis, our study suggested common variants near these genes might dysregulate gene expression and lead to milder phenotypes.

/pdf/genome-wide-meta-analysis-reveals-novel-susceptibility-loci-5ga2irpi9r.pdf

Genome-wide meta-analysis reveals novel susceptibility loci for thyrotoxic periodic paralysis.

Importance Thyrotoxic periodic paralysis (TPP) is a potentially lethal complication of hyperthyroidism. However, only 1 specific susceptibility locus for TPP has been identified. Additional genetic determinants should be detected so that a prediction model can be constructed. Objective To investigate the genetic architecture of TPP and distinguish TPP from Graves disease cohorts. Design, Setting, and Participants This population-based case-control study used a 2-stage genome-wide association study to investigate the risk loci of TPP and weighted genetic risk score to construct a TPP prediction model with data from a Chinese Han population recruited in hospitals in China from March 2003 to December 2015. The analysis was conducted from November 2014 to August 2016. Main Outcomes and Measures Loci specifically associated with TPP risk and those shared with Graves disease and prediction model of joint effects of TPP-specific loci. Results A total of 537 patients with TPP (mean [SD] age, 35 [11] years; 458 male) 1519 patients with Graves disease and no history of TPP (mean [SD] age, 38 [13] years; 366 male), and 3249 healthy participants (mean [SD] age, 46 [10] years; 1648 male) were recruited from the Han population by hospitals throughout China. Two new TPP-specific susceptibility loci were identified:DCHS2on 4q31.3 (rs1352714: odds ratio [OR], 1.58; 95% CI, 1.35-1.85;P = 1.24 × 10−8) andC11orf67on 11q14.1 (rs2186564: OR, 1.50; 95% CI, 1.29-1.74;P = 2.80 × 10−7). One previously reported specific locus was confirmed on 17q24.3 nearKCNJ2(rs312729: OR, 2.08; 95% CI, 1.83-2.38;P = 8.02 × 10−29). Meanwhile, 2 risk loci (MHC and Xq21.1) were shared by Graves disease and TPP. After 2 years of treatment, the ratio of persistent thyrotropin receptor antibody positivity was higher in patients with TPP than in patients with Graves disease and no history of TPP (OR, 3.82; 95% CI, 2.04-7.16;P = 7.05 × 10−6). The prediction model using a weighted genetic risk score and 11 candidate TPP-specific single-nucleotide polymorphisms had an area under the curve of 0.80. Conclusions and Relevance These findings provide evidence that TPP is a novel molecular subtype of Graves disease. The newly identified loci, along with other previously reported loci, demonstrate the growing complexity of the heritable contribution to TPP pathogenesis. A complete genetic architecture will be helpful to understand the pathophysiology of TPP, and a useful prediction model could prevent the onset of TPP.

/pdf/assessment-of-molecular-subtypes-in-thyrotoxic-periodic-43dyrrykbr.pdf

Assessment of Molecular Subtypes in Thyrotoxic Periodic Paralysis and Graves Disease Among Chinese Han Adults: A Population-Based Genome-Wide Association Study.

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Assessment of Molecular Subtypes in Thyrotoxic Periodic Paralysis and Graves Disease Among Chinese Han Adults: A Population-Based Genome-Wide Association Study.