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Ann Neurol 2020 May 13. Epub 2020 May 13.

Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA.

Objective: A hitherto undescribed phenotype of early onset muscular dystrophy associated with sensorineural hearing loss and primary ovarian insufficiency was initially identified in 2 siblings and in subsequent patients with a similar constellation of findings. The goal of this study was to understand the genetic and molecular etiology of this condition.

Methods: We applied whole exome sequencing (WES) superimposed on shared haplotype regions to identify the initial biallelic variants in GGPS1 followed by GGPS1 Sanger sequencing or WES in 5 additional families with the same phenotype. Read More

Anesth Analg 2020 06;130(6):1545-1555

Division of Pulmonary, Allergy, and Critical Care, Department of Internal Medicine, Columbia University Irving Medical Center, New York, New York.

Frailty is a syndrome characterized by decreased reserves across multiple physiologic systems resulting in functional limitations and vulnerability to new stressors. Physical frailty develops over years in community-dwelling older adults but presents or worsens within days in the intensive care unit (ICU) because common mechanisms governing age-related physical frailty are often exacerbated by critical illness. The hallmark of physical frailty is a combined loss of muscle mass, force, and endurance. Read More

Med Chem 2020 Apr 13. Epub 2020 Apr 13.

Department of Pharmaceutical Chemistry, Delhi Institute of Pharmaceutical Sciences and Research, Sector-III, MB Road, Pushp Vihar, New Delhi, 110017. India.

Medicinal Chemistry has played a critical role in evolving new products, resources and processes whichinexorably correspond to our high standards of living. Unfortunately, this has also caused deterioration of human health and threats to the global environment, even deaths when highly exposed to certain chemicals, whether due to improper use, mishandling or disposal. There are chemicals, which apart from being carcinogens, endocrine disruptors or neurotoxins, are also responsible for climate change and ozone depletion. Read More

Orphanet J Rare Dis 2020 Apr 10;15(1):90. Epub 2020 Apr 10.

Pôle Neurosciences - Service de Neurologie, Centre de Référence SLA et les maladies du neurone moteur, Hôpital Pasteur2, CHU de Nice Université Côte d'Azur, Nice, France.

Background: Kennedy's disease (KD), also known as spinal and bulbar muscular atrophy (SBMA), is a rare, adult-onset, X-linked recessive neuromuscular disease caused by CAG expansions in exon 1 of the androgen receptor gene (AR). The objective of the French national diagnostic and management protocol is to provide evidence-based best practice recommendations and outline an optimised care pathway for patients with KD, based on a systematic literature review and consensus multidisciplinary observations.

Results: The initial evaluation, confirmation of the diagnosis, and management should ideally take place in a tertiary referral centre for motor neuron diseases, and involve an experienced multidisciplinary team of neurologists, endocrinologists, cardiologists and allied healthcare professionals. Read More

Nursing 2020 Apr;50(4):50-54

Marianne Bush is an RN contractor for a national wellness company.

Chronic fatigue syndrome (CFS) is a long-term, often misunderstood disorder that involves the nervous, immune, metabolic, endocrine, and digestive systems. This article describes the pathophysiology of CFS, signs and symptoms of CFS in adults, diagnostic criteria for CFS, and nursing considerations for patients with CFS. Read More

Am J Clin Nutr 2020 05;111(5):983-996

International Center for the Assessment of Nutritional Status (ICANS), Department of Food Environmental and Nutritional Sciences (DeFENS), University of Milan, Milan, Italy.

Background: Knowledge on resting energy expenditure (REE) in spinal muscular atrophy type I (SMAI) is still limited. The lack of a population-specific REE equation has led to poor nutritional support and impairment of nutritional status.

Objective: To identify the best predictors of measured REE (mREE) among simple bedside parameters, to include these predictors in population-specific equations, and to compare such models with the common predictive equations. Read More

J Int Soc Sports Nutr 2020 Mar 6;17(1):15. Epub 2020 Mar 6.

Institute of Sport Sciences, Otto-von-Guericke University, 39104, Magdeburg, Germany.

Background: Maximal strength-speed exercise is a powerful stimulus to acutely increase concentrations of circulating steroid hormones and homocysteine [Hcy]. There is some evidence that antioxidant beverages rich in polyphenols can attenuate [Hcy] levels and modulate endocrine responses in favor of an anabolic environment. Polyphenols-rich pomegranate (POM) have been reported to possess one of the highest antioxidant capacities compared to other purported nutraceuticals and other food stuffs. Read More

Eur Thyroid J 2020 Jan 17;9(1):1-10. Epub 2019 Dec 17.

Division of Endocrine and Metabolic Diseases, IRCCS Istituto Auxologico Italiano, Milan, Italy.

Weight loss is one of the most frequent adverse events during treatment with multikinase inhibitors, but scanty data are available on its extent and characteristics. This is the first assessment of the body composition by bioelectrical impedance analysis and of circulating leptin and ghrelin levels, in patients with advanced thyroid cancer before and at regular intervals during treatment with the tyrosine kinase inhibitor lenvatinib. Body mass index (BMI) decreased in all patients, with an average ∆ reduction of -6. Read More

Muscle Nerve 2020 04 7;61(4):530-534. Epub 2020 Feb 7.

International Center for the Assessment of Nutritional Status, Department of Food Environmental and Nutritional Sciences, University of Milan, Milan, Italy.

Introduction: We aimed to investigate the correlation between body composition (BC) and spinal muscular atrophy (SMA)-specific motor function assessments.

Methods: Patients with SMA types I or II, aged 1 to 10 years, were recruited in this cross-sectional study. The protocol included anthropometric measurements, and dual-energy X-ray absoprtiometry to assess fat mass (FM), lean mass (LM), fat-free mass (FFM), FM and FFM indexes (FMI, FFMI), and motor function assessments (Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders scale for SMAI, and Hammersmith Functional Motor Scale-Expanded for SMAII). Read More

J Neurol 2020 May 29;267(5):1414-1419. Epub 2020 Jan 29.

Department of Neurosciences, Biomedicine and Movement Sciences, Section of Clinical Neurology, University of Verona, Verona, Italy.

Multiple acyl-CoA dehydrogenase deficiency, or glutaric aciduria type II, is an autosomal recessive disorder of fatty acid oxidation due to defects in electron transfer flavoprotein (ETF) encoded by ETFA and ETFB, or in electron transfer flavoprotein dehydrogenase (ETFDH) encoded by the ETFDH gene. The disease may present as a severe neonatal onset form and a mild late-onset form which is heterogeneous for the age at onset and clinical presentation. We describe two patients in their seventies, referred for a nonspecific myopathy, which resulted to manifest carriers of ETFDH gene mutation. Read More

Am Fam Physician 2020 01;101(2):95-108

University of Iowa Carver College of Medicine, Iowa City, IA, USA.

Although the prevalence of muscle weakness in the general population is uncertain, it occurs in about 5% of U.S. adults 60 years and older. Read More

Biochim Biophys Acta Mol Basis Dis 2020 May 7;1866(5):165662. Epub 2020 Jan 7.

Neuromuscular Diseases and Neuroimmunology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Via Celoria 11, Milan, 20133, Italy. Electronic address:

Pompe disease (PD) is an autosomal recessive muscular disorder caused by deficiency of the glycogen hydrolytic enzyme acid α-glucosidase (GAA). The enzyme replacement therapy, currently the only available therapy for PD patients, is efficacious in improving cardiomyopathy in the infantile form, but not equally effective in the late onset cases with involvement of skeletal muscle. Correction of the skeletal muscle phenotype has indeed been challenging, probably due to concomitant dysfunctional autophagy. Read More

BMJ Case Rep 2019 Dec 15;12(12). Epub 2019 Dec 15.

Endocrinology, Sri Ramachandra University Medical College, Chennai, Tamil Nadu, India

Rheumatology (Oxford) 2019 12;58(Suppl 7):vii49-vii58

Department of Rheumatology, Université Paris-Sud, AP-HP, Hôpitaux Universitaires Paris-Sud, Centre for Immunology of Viral Infections and Autoimmune Diseases, INSERM UMR1184, Le Kremlin Bicêtre, France.

Since immune checkpoint inhibitors became the standard of care for an increasing number of indications, more patients have been exposed to these drugs and physicians are more challenged with the management of a unique spectrum of immune-related adverse events (irAEs) associated with immune checkpoint inhibitors. Those irAEs of autoimmune or autoinflammatory origin, or both, can involve any organ or tissue, but most commonly affect the dermatological, gastrointestinal and endocrine systems. Rheumatic/systemic irAEs seem to be less frequent (although underreporting in clinical trials is probable), but information on their management is highly relevant given that they can persist longer than other irAEs. Read More

J Pediatr Endocrinol Metab 2019 Dec;32(12):1341-1350

Department of Pediatrics, Severance Children's Hospital, Endocrine Research Institute, Yonsei University College of Medicine, Seoul, Korea.

Background Previous studies investigating the beneficial effects of exercise in type 1 diabetes mellitus (T1DM) are relatively insufficient compared to studies on type 2 diabetes mellitus (T2DM), due to the fear of hypoglycemia. Recently, several researchers have reported that combined aerobic and resistance exercise prevents hypoglycemia during and after exercise. Furthermore, exercise has been shown to have beneficial effects on the psychological status of patients with various diseases. Read More

CMAJ 2019 Nov;191(44):E1217-E1221

Departments of Medicine (Lu, Elsayed, Joy) and Pathology and Laboratory Medicine (Elsayed); Schulich School of Medicine and Dentistry (Robinson, Lu, Elsayed, Joy), London, Ont.

Endocrinol Metab Clin North Am 2019 12 19;48(4):795-810. Epub 2019 Sep 19.

Endocrinology Unit, Department of Medicine DIMED, University-Hospital of Padova, Via Ospedale Civile, 105, Padova 35128, Italy.

Essential hypertension is a highly prevalent disease in the general population. Secondary hypertension is characterized by a specific and potentially reversible cause of increased blood pressure levels. Some secondary endocrine forms of hypertension are common (caused by uncontrolled cortisol, aldosterone, or catecholamines production). Read More

Neurosci Biobehav Rev 2019 12 15;107:750-764. Epub 2019 Oct 15.

Science of Health Department, School of Medicine, University Magna Graecia, Catanzaro, Italy. Electronic address:

The gut-microbiota, the complex intestinal microbial ecosystem essential to health, is an emerging concept in medicine. Several studies demonstrate a microbiota-gut-brain bidirectional connection via neural, endocrine, metabolic and immune pathways. Accordingly, the gut microbiota has a crucial role in modulating intestinal permeability, to alter local/peripheral immune responses and in production of essential metabolites and neurotransmitters. Read More

World J Clin Cases 2019 Oct;7(19):2942-2952

Department of Internal Medicine, Division of Endocrinology and Metabolism, Chang Gung Memorial Hospital, Taoyuan City 333, Taiwan.

Background: Stiff-person syndrome (SPS) and its subtype, stiff limb syndrome (SLS), are rare neurological disorders characterized by progressive muscular rigidity and spasms. Glutamic acid decarboxylase (GAD) is the enzyme that catalyzes the production of γ-aminobutyric acid (GABA), a major inhibitory neurotransmitter of the central nervous system. SPS is an autoimmune disease triggered by anti-glutamic acid decarboxylase antibody (anti-GAD Ab). Read More

Metabolism 2019 11;100S:153951

Centers for Disease Control and Prevention, National Institute for Occupational Safety and Health, Morgantown, WV 26505, United States of America.

Neuroinflammation is a condition characterized by the elaboration of proinflammatory mediators within the central nervous system. Neuroinflammation has emerged as a dominant theme in contemporary neuroscience due to its association with neurodegenerative disease states such as Alzheimer's disease, Parkinson's disease and Huntington's disease. While neuroinflammation often is associated with damage to the CNS, it also can occur in the absence of neurodegeneration, e. Read More

BMJ Case Rep 2019 Oct 5;12(10). Epub 2019 Oct 5.

General Internal Medicine, Hamad Medical Corporation, Doha, Qatar.

Neuropsychiatric and muscular symptoms can develop as part of hypothyroidism. However, frank psychosis or rhabdomyolysis due to hypothyroidism are uncommon and have been reported rarely as the first presenting features of hypothyroidism. We report a case of a 44-year-old man who presented with a 2-week history of delusions, hallucinations and mild bilateral leg pain, without apparent signs of myxedema. Read More

Expert Rev Clin Immunol 2019 10 10;15(10):1047-1060. Epub 2019 Oct 10.

Department of Dermatology, Tufts Medical Center , Boston , MA , USA.

: While biologic agents that can be used for treating pemphigus vulgaris (PV) are increasing, themajority of the world's PV patients can afford only corticosteroids (CS) and some immunosuppressive agents (ISA). : The spectrum of side effects encountered when PV patients receive high-dose, long-term CS and ISA are presented based on total dose and duration of therapy. The steroid-sparing effect of individual ISA as documented in published studies and their clinical outcomes, in terms of duration of remissions, frequency of relapses and time to relapse, are presented, so that comparisons are possible. Read More

Future Med Chem 2019 08;11(16):2171-2192

AOU di Modena - Ospedale Civile di Baggiovara, UOC di Medicina ad indirizzo Metabolico-Nutrizionistico - Modena, Italy.

This review article aims to synthesize the evidence regarding nonalcoholic fatty liver disease (NAFLD) as a systemic disorder. We critically discuss the metabolic syndrome and its components; the cardiovascular and the endocrine system; chronic respiratory disorders; the musculoskeletal system; the skin; and extra-hepatic tumors. We conclude that, while some of these extra-hepatic conditions clearly predispose to the development of secondary forms of NAFLD (typically hypothyroidism-induced NAFLD), others result from pre-existent NAFLD (e. Read More

J Neuropathol Exp Neurol 2019 10;78(10):922-929

Department of Neuropathology, Graduate School of Medical Sciences.

Human prion diseases including sporadic Creutzfeldt-Jakob disease (sCJD), inherited prion diseases, and acquired human prion diseases are lethal neurodegenerative diseases. One of the major sources of iatrogenic Creutzfeldt-Jakob disease was human growth hormone (hGH-iCJD) derived from contaminated cadaveric pituitaries. The incidence of hGH-iCJD has decreased since changing from growth hormone extracted from human cadaveric pituitaries to recombinant pituitary hormones. Read More

J R Coll Physicians Edinb 2019 09;49(3):222-224

117 B L Taneja Building, Maulana Azad Medical College, Bahadur Shah Zafar Marg, New Delhi 110002, India,

Pneumocystis jirovecii (PJ) infection is one of the most common opportunistic infections occurring in patients with HIV/AIDS and other immunocompromised states. It is not known to cause clinically significant illness in immunocompetent hosts. We report a 48-year-old HIV-negative, diabetic male who presented with fever and adrenal insufficiency. Read More

PLoS One 2019 3;14(9):e0221829. Epub 2019 Sep 3.

Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, United States of America.

Mitochondrial DNA (mtDNA) genome integrity is essential for proper mitochondrial respiratory chain function to generate cellular energy. Nuclear genes encode several proteins that function at the mtDNA replication fork, including mitochondrial single-stranded DNA-binding protein (SSBP1), which is a tetrameric protein that binds and protects single-stranded mtDNA (ssDNA). Recently, two studies have reported pathogenic variants in SSBP1 associated with hearing loss, optic atrophy, and retinal degeneration. Read More

Orphanet J Rare Dis 2019 08 20;14(1):205. Epub 2019 Aug 20.

RAND Corporation, 1776 Main Street, PO Box 2138, Santa Monica, CA, 90407-2138, USA.

Background: Clinical care guidelines are typically developed by clinicians and researchers. Including patient and caregiver voices in guideline development may help create guidelines that are more useful for patients and consequently improve their guideline adherence. Although there is substantial research on the factors the affect providers' adherence to guidelines, there is less research on the factors that affect patients' compliance with guideline recommendations, especially among those with rare disorders. Read More

Ann Clin Transl Neurol 2019 08 26;6(8):1510-1518. Epub 2019 Jul 26.

Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, Maryland.

Objectives: Recent evidence showed that myotonic dystrophy type I (DM1) patients are at increased risk of certain cancers, but the risk of benign tumors is unknown. We compared the risk of benign tumors in DM1 patients with matched DM1-free individuals and assessed the association between benign tumors and subsequent cancers.

Methods: We identified 927 DM1 patients and 13,085 DM1-free individuals matched on gender, birth-year, clinic, and clinic-registration year from the UK Clinical Practice Research Datalink, a primary care records database. Read More

Clin Rheumatol 2019 Dec 10;38(12):3435-3442. Epub 2019 Aug 10.

Division of Rheumatology, Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de Sao Paulo, Sao Paulo, SP, Brazil.

Introduction/objectives: To assess the effects of exercise training on insulin resistance and β-cell function in patients with systemic autoimmune myopathies (SAMs).

Method: This quasi-experimental, prospective study includes 9 patients with SAMs (six with dermatomyositis, two with antisynthetase syndrome, and one with polymyositis). Patients were submitted to a 12-week, twice a week, exercise training program comprising aerobic and resistance exercises. Read More

Sci Rep 2019 08 6;9(1):11392. Epub 2019 Aug 6.

Acceleron Pharma, Cambridge, MA, USA.

Skeletal muscle is under inhibitory homeostatic regulation by multiple ligands of the transforming growth factor-β (TGFβ) superfamily. Follistatin is a secreted protein that promotes muscle growth and function by sequestering these ligands extracellularly. In the present study, we evaluated the potential of ACE-083 - a locally acting, follistatin-based fusion protein - as a novel therapeutic agent for focal or asymmetric myopathies. Read More

Commun Biol 2019 10;2:255. Epub 2019 Jul 10.

2Pediatric Neuroendocrinology Group, Clinical Research Branch, National Institute of Environmental Health Sciences, National Institutes of Health, Research Triangle Park, NC 27709 USA.

Variants in the gene , which encodes an epigenetic repressor, have been linked to both congenital arhinia and a late-onset form of muscular dystrophy called facioscapulohumeral muscular dystrophy type 2 (FSHD2). This suggests that SMCHD1 has a diversity of functions in both developmental time and space. The C-terminal end of SMCHD1 contains an SMC-hinge domain which mediates homodimerization and chromatin association, whereas the molecular architecture of the N-terminal region, which harbors the GHKL-ATPase domain, is not well understood. Read More

BMJ Case Rep 2019 Jul 15;12(7). Epub 2019 Jul 15.

Department of Endocrinology, Christian Medical College, Vellore, Tamil Nadu, India.

McCune Albright syndromeis a rare disorder that presents with multiple endocrine abnormalities. We report the case of a 24-year-old woman who presented with right lower limb pain, with no preceding trauma or fracture. On examination she was noted to have coarsened facial features, acral enlargement, bitemporal hemianopia, galactorrhoea and multiple café-au-lait macules. Read More

Praxis (Bern 1994) 2019 Jul;108(9):582-588

1 Innere Medizin/Endokrinologie und Diabetologie, Luzerner Kantonsspital, Luzern.

Hormones and Mobility Endocrine disorders affect mobility in many and sometimes characteristic ways such as Cushing's syndrome or hyperparathyroidism, which have direct, hormone-mediated effects on skeletal and muscular tissues. On the other hand, the endocrine system plays an important role in the development of (osteo)sarcopenia, the meaning of which is increasingly recognized in the prognosis of various diseases. Conversely, lack of physical activity is crucial in the development of metabolic diseases, which are associated with serious individual and socio-economic consequences. Read More

J Inherit Metab Dis 2019 09 24;42(5):918-933. Epub 2019 Jul 24.

Laboratory of Inherited Metabolic Diseases, Research Centre for Medical Genetics, Moscow, Russia.

Recently, the plasma cytokines FGF-21 and GDF-15 were described as cellular metabolic regulators. They share an endocrine function and are highly expressed in the liver under stress and during starvation. Several studies found that these markers have high sensitivity and specificity for the diagnosis of mitochondrial diseases, especially those with prominent muscular involvement. Read More

Biogerontology 2019 10 28;20(5):627-647. Epub 2019 Jun 28.

Epidemiology, Biostatistics and Biodemography, Department of Public Health, University of Southern Denmark, J.B. Winsløws Vej 9B, 5000, Odense C, Denmark.

Hand grip strength is a measure of muscular strength and is used to study age-related loss of physical capacity. In order to explore the biological mechanisms that influence hand grip strength variation, an epigenome-wide association study (EWAS) of hand grip strength in 672 middle-aged and elderly monozygotic twins (age 55-90 years) was performed, using both individual and twin pair level analyses, the latter controlling the influence of genetic variation. Moreover, as measurements of hand grip strength performed over 8 years were available in the elderly twins (age 73-90 at intake), a longitudinal EWAS was conducted for this subsample. Read More

J Med Case Rep 2019 Jun 25;13(1):192. Epub 2019 Jun 25.

Research Department, General Hospital of the Health Plaza (HGPS), Santo Domingo, Dominican Republic.

Background: Insulinomas are pancreatic endocrine tumors of rare incidence worldwide, the vast majority are of single occurrence and benign. These may not always present with the clear symptoms described in the literature and may be overlooked because their neuroglycopenic characteristics present in a fashion similar to some psychiatric conditions.

Case Report: A 50-year-old Hispanic man referred severe psychomotor symptoms, described as anxiety, aggressiveness, agitation, weakness, diaphoresis, and decreased visual acuity. Read More

Brain Nerve 2019 Jun;71(6):617-621

Department of Neurology, Isahaya General Hospital.

A 72-year-old Japanese man developed progressive disturbance in ambulation with flexion contractures 5years before this admission. At 49 years of age, he was diagnosed with hypopituitarism after an operation for a Rathke's cleft. On admission, he could not fully extend his knees and hips because of painful muscle stiffness of the lower extremities. Read More

BMC Oral Health 2019 06 6;19(1):100. Epub 2019 Jun 6.

Department of Removable Prosthodontics, School of Dental Medicine, University of Zagreb, Gunduliceva 5, HR-10000, Zagreb, Croatia.

Background: Differences in the expression of oxidative stress (OS) markers between female patients with temporomandibular disorders (TMD) and healthy individuals indicate that OS plays a role in the pathogenesis of TMD. Because chronic exposure to stress generates oxidative damage during continuous stimulation of the hypothalamic-pituitary-adrenal axis, we expected that higher levels of cortisol might be associated with higher oxidative damage. Our aim was to test the association between OS markers, stress perception, and salivary cortisol (SC) in chronic, female TMD patients. Read More

Orphanet J Rare Dis 2019 05 22;14(1):112. Epub 2019 May 22.

Department of Dermatology, Hedi Chaker Hospital, Sfax, Tunisia.

Background: Chanarin-Dorfman syndrome (CDS) is a rare syndromic disease related to an accumulation of triacylglycerol in most organs. The aim of our study was to investigate various organs in a large series of CDS patients.

Results: We report for the first time thyroid function impairment in CDS. Read More

BMC Endocr Disord 2019 May 22;19(1):52. Epub 2019 May 22.

Division of Endocrinology and Metabolism, Department of Internal Medicine, Korea University Anam Hospital, Korea University College of Medicine, 73 Inchon-ro, Seongbuk-gu, Seoul, 02841, Republic of Korea.

Background: Hypothyroidism, one of the prevalent endocrine disorders worldwide, has a broad spectrum of clinical manifestations, from an asymptomatic condition to myxedema coma. Although the majority of patients with hypothyroidism have minor clinical symptoms, which are recovered with levothyroxine treatment, some patients occasionally do experience fatal complications. Here we report, for the first time, the case of a patient who had hypothyroidism with simultaneous occurrence of rhabdomyolysis with acute kidney injury, moderate pericardial effusion, and sudden sensorineural hearing loss. Read More

Expert Opin Pharmacother 2019 07 7;20(10):1289-1297. Epub 2019 May 7.

a Krankenanstalt Rudolfstiftung , Messerli Institute , Vienna , Austria.

Introduction: Epilepsy is a prominent feature of myoclonic epilepsy with ragged-red fibers (MERRF)-syndrome. The most frequent seizure type is myoclonic seizures, of which the treatment is challenging and empiric.

Areas Covered: Herein, the author summarises and discusses previous and recent findings of antiepileptic drug (AED) treatment in MERRF-syndrome. Read More

BMC Neurol 2019 May 3;19(1):87. Epub 2019 May 3.

Department of Rheumatology and Clinical Immunology, The Second Affiliated Hospital of Kunming Medical University, 374 Dianmian Avenue Wuhua District, Kunming, 650101, Yunnan, China.

Background: Sturge-Weber syndrome (SWS) is a rare and sporadic congenital neurocutaneous disorder, that is characterized by facial venous capillary malformation (port-wine birthmark), leptomeningeal venous malformation (angiomatosis), glaucoma, and neurologic problems. SWS can comorbid with other disorders in some patients, however, muscular abnormalities have still not been reported in patients with SWS.

Case Presentation: A forty-one-year-old Chinese female who had left side port-wine stain, ipsilateral glaucoma, and hypothyroidism was included in the present study. Read More

Best Pract Res Clin Endocrinol Metab 2019 06 19;33(3):101275. Epub 2019 Apr 19.

Developmental Endocrinology Research Group, Royal Hospital for Children, Glasgow, United Kingdom. Electronic address:

Pubertal disorders in the context of chronic disease especially in those with chronic inflammatory disorders or those requiring prolonged periods of treatment with glucocorticoid are common reasons for referral to the paediatric endocrine clinic. Disorders of puberty are also common in adolescents with disability requiring management by paediatric endocrinologists. In these adolescents, impaired skeletal development is also observed and this can be associated with fragility fractures. Read More

Brain Behav Immun 2019 08 27;80:551-563. Epub 2019 Apr 27.

Institute of Clinical Medicine, University of Oslo, Oslo, Norway; Dept. of Pediatrics, Akershus University Hospital, Lørenskog, Norway. Electronic address:

Introduction: Acute Epstein-Barr virus (EBV) infection is a trigger of chronic fatigue (CF) and Chronic Fatigue Syndrome (CFS). The aim of this cross-sectional study was to explore clinical symptoms as well as markers of disease mechanisms in fatigued and non-fatigued adolescents 6 months after EBV-infection, and in healthy controls.

Materials And Methods: A total of 200 adolescents (12-20 years old) with acute EBV infection were assessed 6 months after the initial infectious event and divided into fatigued (EBV CF+) and non-fatigued (EBV CF-) cases based on questionnaire score. Read More

BMJ Case Rep 2019 Apr 23;12(4). Epub 2019 Apr 23.

Division of Endocrinology and Metabolism, Department of Medicine, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.

Diabetic muscle infarction is an unusual condition with distinctive clinical characteristics seen in patients with prolonged and uncontrolled diabetes. Clinical findings and imaging study are unique and challenging. Patients usually present with acute unilateral severe muscular pain and swelling, particularly in the lower extremities. Read More

Neurochem Res 2019 Jul 19;44(7):1517-1532. Epub 2019 Apr 19.

Department of Pharmaceutical Sciences, Guru Nanak Dev University, Amritsar, Punjab, India.

Fibromyalgia is a chronic complex syndrome of non-articulate origin characterized by musculoskeletal pain, painful tender points, sleep problems and co-morbidities including depression, migraine. The etiopathogenesis of fibromyalgia is complex, variable and remains inconclusive. The etiological factors that have been defined include stress, genetic predisposition and environmental components. Read More

Front Physiol 2019 29;10:287. Epub 2019 Mar 29.

Department of Neurosciences, Mario Negri Institute for Pharmacological Research IRCCS, Milan, Italy.

Skeletal muscle is a highly vascularized tissue that can secrete proteins called myokines. These muscle-secreted factors exert biological functions in muscle itself (autocrine effect) or on short- or long-distant organs (paracrine/endocrine effects) and control processes such as metabolism, angiogenesis, or inflammation. Widely differing diseases ranging from genetic myopathies to cancers are emerging as causing dysregulated secretion of myokines from skeletal muscles. Read More

Intern Med J 2019 11;49(11):1412-1417

Department of Internal Medicine, Logan Hospital, Brisbane, Queensland, Australia.

Background: Patients with type 1 myotonic dystrophy (DM1) have a higher incidence of hypercalcaemia compared with the general population. The nature and effects of dysregulated calcium metabolism underpinning this phenomenon have not been fully characterised.

Aims: To determine the characteristics of dysregulated calcium metabolism in patients with DM1 and its association with bone mineral density. Read More

Clin Immunol 2019 06 2;203:9-13. Epub 2019 Apr 2.

Department of Pediatrics and Developmental Biology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University (TMDU), Tokyo, Japan. Electronic address:

Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is one of the inborn errors of immunity, characterized by impaired function of the regulatory T cells. Clinical manifestations of IPEX syndrome are characterized by various autoimmune diseases with autoantibodies. The comprehensive analysis for autoantibodies using human proteome microarrays in the four patients with IPEX syndrome was performed. Read More

Radiother Oncol 2019 04 14;133:35-42. Epub 2019 Jan 14.

Purpose: To explore for fatigue-related regions and the radiotherapy (RT) dose-fatigue relationship in nasopharyngeal cancer (NPC) survivors.

Methods: Eighty disease-free NPC survivors completed the MD Anderson Symptom Inventory-Head and Neck module (MDASI-HN) after RT. Fatigue was evaluated by the MDASI-HN fatigue item (MDASI-HN-F) and Common Terminology Criteria for Adverse Events v3. Read More