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Birth Defects Res 2022 Jun 18. Epub 2022 Jun 18.

Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.

Background: Xia-Gibbs syndrome (XGS) is a rare neurodevelopmental disorder caused by pathogenic variants in the AT-hook DNA-binding motif-containing 1 gene (AHDC1), encoding a protein with a crucial role in transcription and epigenetic regulation, axonogenesis, brain function, and neurodevelopment. AHDC1 variants possibly act through a dominant-negative mechanism and may interfere with DNA repair processes, leading to genome instability and impaired DNA translesion repair. Variants affecting residues closer to the N-terminal are thought to determine a milder phenotype with better cognitive performances. Read More

Intern Med 2022 Apr 30. Epub 2022 Apr 30.

Gastroenterology and Endoscopy, Division of Metabolism and Biosystemic Science, Gastroenterology, and Hematology/Oncology, Department of Medicine, Asahikawa Medical University, Japan.

A 63-year-old man with hepatitis C was treated with atezolizumab plus bevacizumab for unresectable diffuse hepatocellular carcinoma (HCC). After four cycles of atezolizumab plus bevacizumab, the diffuse HCC markedly shrank; however, he complained of general fatigue, loss of appetite, and slight loss of muscle strength in the lower legs. He was diagnosed with isolated adrenocorticotropic hormone deficiency (IAD), hypothyroidism, and myopathy, suggesting multisystem immune-related adverse events (irAEs). Read More

Eur J Intern Med 2022 Jul 27;101:86-92. Epub 2022 Apr 27.

Research Group on Genetic Epidemiology and Atherosclerosis in Systemic Diseases and Metabolic Bone Diseases of the Musculoskeletal System, IDIVAL, Santander, Spain; Department of Internal Medicine, Hospital Universitario Marqués de Valdecilla, Santander, Spain; University of Cantabria, Santander, Spain. Electronic address:

Objective: To characterize the demographic, genetic, clinical, and serological features of patients with anti-3‑hydroxy-3-methylglutaryl-CoA reductase (HMGCR) immune-mediated necrotizing myopathy (IMNM) in a region of northern Spain.

Methods: Study of all patients diagnosed with anti-HMGCR IMNM during a 5-year period at a reference hospital in northern Spain. Besides clinical and laboratory data, we analyzed the genetic influence of HLA genes and the rs4149056 (c. Read More

Ulus Travma Acil Cerrahi Derg 2022 May;28(5):711-713

Department of Ophthalmology, İstanbul University-Cerrahpaşa, Cerrahpaşa Faculty of Medicine, İstanbul-Turkey.

After infratrochlear nerve block for nasolacrimal probing, sudden vision loss, proptosis, pain, loss of light reflexes, and a total limitation of ocular movement was observed in a 71-year-old female patient. She was diagnosed with retrobulbar hemorrhage and orbital compartment syndrome (OCS). Lateral canthotomy, cantholysis, and medial orbitotomy were performed on the patient. Read More

Comput Intell Neurosci 2022 11;2022:8978878. Epub 2022 Apr 11.

Department of Spine Surgery, The Second Affiliated Hospital of Dalian Medical University, Dalian 116023, China.

Background: Symptomatic rotator cuff calcific tendinitis (RCCT) is a common shoulder disorder, and approaches combined with artificial intelligence greatly facilitate the development of clinical practice. Current scarce knowledge of the onset suggests that clinicians may need to explore this disease thoroughly.

Methods: Clinical data were retrospectively collected from subjects diagnosed with RCCT at our institution within the period 2008 to 2020. Read More

J Assoc Physicians India 2022 Feb;70(2):11-12

Clinical Associate, Arham Rheumatology Center, Nashik.

Background: Sjögren's syndrome (SS) is autoimmune disorder charaterized by exocrine glandular involvement and extra-glandular manifestations. Associations between hypokalemic paralysis and SS have not been emphasized enough. Present study evaluates hypokalemic paralysis as presenting feature in PSS. Read More

Acta Biomed 2022 03 8;92(S1):e2021239. Epub 2022 Mar 8.

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Background And Aim: Hashimoto's thyroiditis (HT) is a common endocrinopathy in children, particularly in females. Clinical overt presentation of hypothyroidism in HT includes mild to very severe forms, characterised by impairment of many body functions and organs, such as heart, brain, muscles, ovaries and liver.

Case: we report the case of a 14-year-old girl, with severe hypothyroidism due to a late diagnosis of HT during the Covid-19 pandemic. Read More

Clin J Gastroenterol 2022 Apr 23;15(2):460-466. Epub 2022 Feb 23.

Hepato-Biliary-Pancreatic Surgery Division, Department of Surgery, National Center for Global Health and Medicine (NCGM), 1-21-1 Toyama, Shinjuku-ku, Tokyo, 162-8655, Japan.

We report the case of a 79-year-old woman with hepatocellular carcinoma (HCC) who presented with creatine kinase (CK)-MM elevation. On admission, her serum CK-MM level exceeded 4000 IU/L (normal, 44-206 IU/L), and computed tomography revealed two HCCs in hepatic segment VIII (23 mm, 86 mm). The patient denied experiencing muscular symptoms such as weakness or pain. Read More

Ann Med Surg (Lond) 2022 Feb 27;74:103304. Epub 2022 Jan 27.

Department of Endocrinology, The National Center (Institute) for Diabetes, Endocrinology, and Genetics, The University of Jordan, Amman, Jordan.

Background And Objectives: myopathy is a major side effect of statins that leads to statin intolerance and discontinuation. In this prospective cohort study, the main objective was to estimate the incidence of myopathy in patients receiving statins. In addition, we identified some risk factors associated with statin induced myopathy. Read More

J Hand Surg Asian Pac Vol 2022 Feb 9;27(1):148-155. Epub 2022 Feb 9.

Department of Orthopaedic Surgery, Shinshu University School of Medicine, Nagano, Japan.

Trigger digit(s) (TD) is one of the most common disorders of the hand in the elderly population. The aim of this study is to determine the prevalence and identify the risk factors for TD in an elderly Japanese population. We randomly sampled 1,297 subjects between the ages of 50 and 89 years from the population registry of a town in Japan. Read More

Proc Natl Acad Sci U S A 2022 02;119(5)

Neuromuscular Diseases Research Section, Laboratory of Neurogenetics, National Institute on Aging, Bethesda, MD 20892.

Myasthenia gravis is a chronic autoimmune disease characterized by autoantibody-mediated interference of signal transmission across the neuromuscular junction. We performed a genome-wide association study (GWAS) involving 1,873 patients diagnosed with acetylcholine receptor antibody-positive myasthenia gravis and 36,370 healthy individuals to identify disease-associated genetic risk loci. Replication of the discovered loci was attempted in an independent cohort from the UK Biobank. Read More

J Investig Med High Impact Case Rep 2022 Jan-Dec;10:23247096211070387

Department of Gastroenterology, SUNY Upstate Medical University, Syracuse, NY, USA.

Inflammatory pseudotumors of the liver are rare, non-neoplastic liver tumors. Due to the nonspecific clinical presentation, imaging features, and histopathological findings, they can mimic malignant tumors requiring invasive diagnostics. We present a case of a 61-year-old female patient with a history of type 2 diabetes mellitus, hypothyroidism, hyperlipidemia, and polymyalgia rheumatica who had initially presented with abdominal pain for 3 weeks. Read More

Clin Neuropathol 2022 Mar-Apr;41(2):83-88

Immune-mediated necrotizing myopathy (IMNM) is characterized by proximal limb weakness, elevated creatine kinase (CK) levels, and myofiber necrosis without or with only a small amount of inflammatory cell infiltrate. There is only 1 report of hypothyroidism combined with antibody-negative IMNM to date. We aimed to describe a rare case of hypothyroidism combined with anti-signal recognition particle (SRP) IMNM for the first time and review the previous literature. Read More

Mol Genet Metab 2022 01 16;135(1):109-113. Epub 2021 Dec 16.

Unit of Pediatric Neurology, V. Buzzi Children's Hospital, Milan, Italy; C.O.A.L.A (Center for diagnosis and treatment of leukodystrophies), V. Buzzi Children's Hospital, Milan, Italy. Electronic address:

Background And Objectives: MCT8 deficiency is a rare genetic leukoencephalopathy caused by a defect of thyroid hormone transport across cell membranes, particularly through blood brain barrier and into neural cells. It is characterized by a complex neurological presentation, signs of peripheral thyrotoxicosis and cerebral hypothyroidism. Movement disorders (MDs) have been frequently mentioned in this condition, but not systematically studied. Read More

JAMA Cardiol 2022 02;7(2):225-226

Division of Cardiology, Department of Internal Medicine, The Jikei University School of Medicine, Tokyo, Japan.

Arch Clin Cases 2020 27;7(4):68-71. Epub 2021 Oct 27.

Department of Pathology and Laboratory Medicine, University of Texas, San Antonio, TX, USA.

Dermatomyositis is an idiopathic inflammatory myopathy with variable cutaneous manifestations. Several autoantibodies each with distinct clinical phenotypes are associated with the disease. Here we present the case of a 36-year-old Laotian woman with hypothyroidism who presented with severe proximal and distal muscle weakness, dysphagia, diffuse rash, and anasarca that was diagnosed with NXP-2 (nuclear matrix protein 2) antibody positive dermatomyositis. Read More

Drug Discov Ther 2021 Nov 30;15(5):254-260. Epub 2021 Oct 30.

Department of Medicine, All India Institute of Medical Sciences, New Delhi, India.

Post COVID-19 sequelae are a constellation of symptoms often reported after recovering from COVID-19. There is a need to better understand the clinical spectrum and long-term course of this clinical entity. The aim of this study is to describe the clinical features and risk factors of post COVID-19 sequelae in the North Indian population. Read More

Pol J Pathol 2021 ;72(2):185-189

Division of Neuropathology and Neurochemistry, Department of Neurology, Medical University of Vienna, Vienna, Austria.

Isolated respiratory chain complex-IV deficiency (ICIVD) usually manifests clinically as an early-onset, severe, multisystem mitochondrial disorder (MID) and only rarely with mild manifestations. Here we present an adult patient with late onset ICIVD with slowly progressive, mild clinical manifestations. In a 57-years old Caucasian male with exercise-induced myalgia, muscle cramps, ptosis, and recurrent creatine-kinase (CK) elevation, muscle biopsy and biochemical investigations of the left lateral vastus muscle revealed ICIVD. Read More

BMC Endocr Disord 2021 Oct 24;21(1):212. Epub 2021 Oct 24.

Intensive Care Unit, First Affiliated Hospital of Baotou Medical College, Inner Mongolia University of Science and Technology, Baotou, 014010, Inner Mongolia, China.

Background: Hypothyroidism is frequent and has various forms of muscle involvement. We report the diagnosis and treatment of a case of rhabdomyolysis, bilateral osteofascial compartment syndrome (OCS) of the lower extremities, and peroneal nerve injury causing bilateral foot drop in a diabetic patient with hypothyroidism.

Case Presentation: A 66-year-old man with diabetes for 22 years was admitted because of drowsiness, tiredness, facial swelling, and limb twitching for 2 months, and red and swollen lower limb skin for 3 days. Read More

Am J Med Genet A 2022 02 19;188(2):473-487. Epub 2021 Oct 19.

Department of Pediatrics, Stanford University School of Medicine, Stanford, California, USA.

Biallelic pathogenic variants in the TANGO2 (transport and Golgi organization 2 homolog) gene have been identified as causing a rare metabolic disorder characterized by susceptibility to recurrent rhabdomyolysis, lactic acidosis, encephalopathy, and life-threatening tachyarrhythmias. Recently published reports suggest variable clinical severity and phenotypes. This study details five new patients from two families with biallelic pathogenic variants in the TANGO2 gene identified by whole exome sequencing and includes the largest number of affected individuals from a single family reported to date. Read More

Crit Care Res Pract 2021 28;2021:8889036. Epub 2021 Sep 28.

Faculty of Medicine, Ain Shams University, Cairo, Egypt.

Background: Thyroid disorders may decrease the threshold for developing myopathy. Nonthyroidal illness syndrome (NTIS) is a common form of thyroid dysfunction in critically ill patients who are prone to the development of intensive care unit-acquired weakness (ICUAW). We therefore tested the hypothesis that patients with abnormalities in thyroid function are at a higher risk of developing ICUAW. Read More

J Mol Med (Berl) 2021 12 18;99(12):1755-1768. Epub 2021 Sep 18.

Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine-University Düsseldorf, Universitätsstraße 1, 40225, Düsseldorf, Germany.

Pathogenic variants in aminoacyl-tRNA synthetases (ARS1) cause a diverse spectrum of autosomal recessive disorders. Tyrosyl tRNA synthetase (TyrRS) is encoded by YARS1 (cytosolic, OMIM*603,623) and is responsible of coupling tyrosine to its specific tRNA. Next to the enzymatic domain, TyrRS has two additional functional domains (N-Terminal TyrRS and C-terminal EMAP-II-like domain) which confer cytokine-like functions. Read More

Am J Case Rep 2021 Sep 17;22:e932769. Epub 2021 Sep 17.

Department of Clinical and Experimental Pathology, Institute of Medical Sciences, Jan Kochanowski University, Kielce, Poland.

BACKGROUND ARCS1 is an acronym for arthrogryposis, renal dysfunction, and cholestasis. It is a congenital malfunction with autosomal recessive inheritance, and, unfortunately, its prognosis is still poor. It is believed that VPS33B is altered in 75% of cases and that the VIPAR gene is altered in approximately 25% of them. Read More

Curr Opin Rheumatol 2021 11;33(6):544-553

Internal Medicine Department, Hospital Clinic, Universitat de Barcelona, Barcelona, Spain.

Purpose Of Review: Necrotizing myopathy is a broad term. It includes patients with the recently described immune-mediated necrotizing myopathies (IMNM) who have specific antibodies, such as anti-hydroxy-3-methylglutaryl-CoA reductase or anti-signal recognition particle, seronegative phenotypes that can be associated with cancer, and other types of myositis and connective tissue diseases involving necrotic muscle fibers as a characteristic pathologic feature. Necrotizing myopathies that are not immune-mediated, such as those caused by drugs, dystrophies, infections, or even hypothyroidism are also included. Read More

Muscle Nerve 2021 11 26;64(5):567-575. Epub 2021 Aug 26.

Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy.

Introduction/aims: Stromal interaction molecule 1 (STIM1) is a reticular Ca sensor composed of a luminal and a cytosolic domain. Autosomal dominant mutations in STIM1 cause tubular aggregate myopathy and Stormorken syndrome or its variant York platelet syndrome. In this study we aimed to expand the features related to new variants in STIM1. Read More

Eur J Cancer 2021 09 2;155:38-41. Epub 2021 Aug 2.

Department of Radiation Oncology, The First Affiliated Hospital of USTC, Division of Life Sciences and Medicine, University of Science and Technology of China, Hefei, Anhui Province 230031, China. Electronic address:

BMJ Case Rep 2021 Jul 9;14(7). Epub 2021 Jul 9.

Cardiology, Baby Memorial Hospital, Calicut, Kerala, India.

Hashimoto's thyroiditis (HT) is the most common form of primary hypothyroidism. Several muscular manifestations like pain, weakness, stiffness and elevated muscle enzymes have been noticed in hypothyroidism. Alcohol is also known to cause myositis and rhabdomyolysis. Read More

Melanoma Res 2021 08;31(4):405-406

Klinik Landstrasse, Messerli Institute, Vienna, Austria.

J Hand Surg Am 2022 03 17;47(3):284.e1-284.e6. Epub 2021 Jun 17.

Department of Orthopaedic Surgery and Rehabilitation Medicine, The University of Chicago Medicine, Chicago, IL. Electronic address:

Purpose: We hypothesized that repeat injections are associated with a decreased rate of success and that the success rate of injections correlates with patient comorbidities.

Methods: Using a commercially available insurance database, patients diagnosed with De Quervain tenosynovitis were identified using International Classification of Diseases, Ninth Revision and Tenth Revision codes and stratified by therapeutic interventions, including therapy, injections, and surgery, as well as comorbidities. Injection failure was defined as a patient receiving a repeat injection or subsequent surgical management. Read More

Clin Exp Rheumatol 2021 Nov-Dec;39 Suppl 133(6):153-158. Epub 2021 Jun 14.

Department of Immunology and Rheumatology, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico City, Mexico.

Objectives: The ESSPRI is a validated tool for measuring pain, fatigue and dryness in primary Sjögren's syndrome (pSS). We evaluated its association with disease and non-disease related variables, and its variation though the follow-up.

Methods: We included 130 pSS patients who were interviewed to register demographics, schooling, smoking, menopause, body mass index (BMI), disease duration, use of hormonal replacement, associated sicca drugs, prednisone, immunosuppressors/antimalarials, comorbidities such as diabetes mellitus, hypothyroidism, depression, fibromyalgia and scored the Charlson comorbidity index. Read More