Search Our Scientific Publications & Authors

J Neurol Sci 2021 May 27;427:117511. Epub 2021 May 27.

Department of Neurology, National Hospital Organization Aomori National Hospital, Namioka, Aomori 038-1331, Japan. Electronic address:

Myotonic dystrophy type 1 (DM1) is the most common form of muscular dystrophy in adults, affecting multiple organs, including the eyes, heart, endocrine system, and central nervous system. The broad spectrum of DM1 symptoms has been attributed to the aberrant pre-mRNA splicing of various genes due to an abnormal expansion of the CTG repeat in the 3' untranslated region of the DMPK gene. The current challenge in the clinical care of DM1 is the lack of well-established protocols for the management of each organ disorder or symptom. Read More

J Med Case Rep 2021 May 31;15(1):278. Epub 2021 May 31.

Department of Internal Medicine, Scripps Clinic/Scripps Green Hospital, 10666 N Torrey Pines Rd 403C, La Jolla, CA, 92037-1027, USA.

Background: Immune checkpoint inhibitors are effective therapies for a wide range of malignancies. Their increased use has led to a wide range of immune-related adverse effects including skin, gastrointestinal, pulmonary, endocrine, cardiac, and neurologic complications.

Case Presentation: We present the case of a 72-year-old Caucasian man with non-small cell lung cancer who was admitted for dyspnea after two cycles of durvalumab. Read More

BMJ Case Rep 2021 May 24;14(5). Epub 2021 May 24.

Diabetes and Endocrinology, Guy's and St Thomas' Hospitals NHS Trust, London, UK.

We report a case of severe hypercalcaemia secondary to rhabdomyolysis in a woman with COVID-19 (SARS CoV-2) infection. The patient presented with myalgia and anuria with an acute kidney injury requiring haemodialysis. Creatine kinase peaked at 760 000 IU/L. Read More

J Clin Endocrinol Metab 2021 May 5. Epub 2021 May 5.

Department of Molecular Medicine and Surgery, Karolinska Institute, Stockholm, Sweden.

Background: Prader-Willi Syndrome (PWS) is a rare, genetic, multi-symptom, neurodevelopmental disease, due to lack of the expression of the paternal genes in the q11-q13 region of chromosome 15. The main characteristics of PWS are muscular hypotonia, hyperphagia, obesity, behavioral problems, cognitive disabilities and endocrine deficiencies, including growth hormone (GH) deficiency. Sleep apnea and abnormal sleep patterns are common in PWS. Read More

BMJ Case Rep 2021 May 4;14(5). Epub 2021 May 4.

Department of Endocrinology, Sri Ramachandra Institute of Higher Education and Research, Chennai, Tamil Nadu, India.

We present a case of a 25-year-old man who came to our Endocrine Clinic for evaluation of short stature. He had a history of sensorineural hearing loss, hypertrichosis and hyperpigmentation with the thickening of the skin below the hip, gynecomastia and autoimmune haemolytic anaemia. Investigations showed that he had hypergonadotropic hypogonadism. Read More

Int J Mol Sci 2021 Apr 9;22(8). Epub 2021 Apr 9.

Department of Chemical, Biological, Pharmaceutical and Environmental Sciences, University of Messina, Viale Ferdinando Stagno D'Alcontres, 31, 98166 Messina, Italy.

Fibromyalgia is a syndrome characterized by chronic and widespread musculoskeletal pain, often accompanied by other symptoms, such as fatigue, intestinal disorders and alterations in sleep and mood. It is estimated that two to eight percent of the world population is affected by fibromyalgia. From a medical point of view, this pathology still presents inexplicable aspects. Read More

Am J Case Rep 2021 Apr 10;22:e929758. Epub 2021 Apr 10.

Division of Urology, Department of Surgery, Cathay General Hospital, Taipei, Taiwan.

BACKGROUND Primary aldosteronism, also known as Conn's syndrome, is a clinical condition caused by excessive production of aldosterone. The classic presenting signs of primary aldosteronism are hypertension and hypokalemia. However, rhabdomyolysis induced by severe hypokalemia is a rare manifestation of primary aldosteronism. Read More

Epilepsia 2021 Apr 5;62(4):973-983. Epub 2021 Apr 5.

Objective: We sought to identify novel genes and to establish the contribution of known genes in a large cohort of patients with nonsyndromic sporadic polymicrogyria and epilepsy.

Methods: We enrolled participants with polymicrogyria and their parents through the Epilepsy Phenome/Genome Project. We performed phenotyping and whole exome sequencing (WES), trio analysis, and gene-level collapsing analysis to identify de novo or inherited variants, including germline or mosaic (postzygotic) single nucleotide variants, small insertion-deletion (indel) variants, and copy number variants present in leukocyte-derived DNA. Read More

Int J Neonatal Screen 2021 Mar 5;7(1). Epub 2021 Mar 5.

Norwegian National Unit for Newborn Screening, 0424 Oslo, Norway.

Neonatal screening (NBS) was initiated in Europe during the 1960s with the screening for phenylketonuria. The panel of screened disorders ("conditions") then gradually expanded, with a boost in the late 1990s with the introduction of tandem mass spectrometry (MS/MS), making it possible to screen for 40-50 conditions using a single blood spot. The most recent additions to screening programmes (screening for cystic fibrosis, severe combined immunodeficiency and spinal muscular atrophy) were assisted by or realised through the introduction of molecular technologies. Read More

FASEB J 2021 May;35(5):e21400

IGF, Université de Montpellier, CNRS, INSERM, Montpellier, France.

Anterior pituitary endocrine cells that release hormones such as growth hormone and prolactin are excitable and fire action potentials. In these cells, several studies previously showed that extracellular sodium (Na ) removal resulted in a negative shift of the resting membrane potential (RMP) and a subsequent inhibition of the spontaneous firing of action potentials, suggesting the contribution of a Na background conductance. Here, we show that the Na leak channel NALCN conducts a Ca - Gd -sensitive and TTX-resistant Na background conductance in the GH cell line, a cell model of pituitary endocrine cells. Read More

J Cachexia Sarcopenia Muscle 2021 Jun 31;12(3):599-628. Epub 2021 Mar 31.

Section for Health and Exercise Physiology, Inland Norway University of Applied Sciences, Lillehammer, Norway.

Background: Lifestyle therapy with resistance training is a potent measure to counteract age-related loss in muscle strength and mass. Unfortunately, many individuals fail to respond in the expected manner. This phenomenon is particularly common among older adults and those with chronic diseases (e. Read More

Pract Neurol 2021 Mar 30. Epub 2021 Mar 30.

Department of Neurology, Postgraduate Institute of Medical Education and Research, Chandigarh, India.

Myoedema is an under-recognised neurological sign that can help the bedside diagnosis of metabolic or endocrine myopathies. Myoedema together with pseudo-hypertrophy make a likely diagnosis of hypothyroid myopathy, and its identification may avoid unnecessary investigations. Read More

Clin Nutr 2021 Apr 26;40(4):1578-1587. Epub 2021 Feb 26.

Department of Endocrine and Metabolic Diseases, Obesity Unit and Laboratory of Nutrition and Obesity Research, IRCCS (Scientific Institute for Research, Hospitalization, and Healthcare) Italian Auxologic Institute (IAI), Milan, Italy; International Center for the Assessment of Nutritional Status (ICANS), Department of Food Environmental and Nutritional Sciences (DeFENS), University of Milan, Milan, Italy.

Background: Body composition assessment is paramount for spinal muscular atrophy type I (SMA I) patients, as weight and BMI have proven to be misleading for these patients. Despite its importance, no disease-specific field method is currently available, and the assessment of body composition of SMA I patients requires reference methods available only in specialized settings.

Objective: To develop predictive fat mass equations for SMA I children based on simple measurements, and compare existing equations to the new disease-specific equations. Read More

Curr Opin Ophthalmol 2021 May;32(3):255-261

Consultants in Ophthalmic and Facial Plastic Surgery, P.C., Southfield.

Purpose Of Review: This review aims to bring together recent advances in basic, translational and clinical research on the pathogenesis and treatment of orbital inflammatory conditions.

Recent Findings: Basic science studies provide mechanistic insights into why the orbit is targeted for inflammation by autoimmune inflammatory disorders. Using Graves' disease as a test case reveals that endocrine pathways, such as the TSH and IGF1 receptor pathways play important roles in stimulating orbital inflammation. Read More

BMC Musculoskelet Disord 2021 Feb 5;22(1):150. Epub 2021 Feb 5.

Department of Pathophysiology and Allergy Research, Center of Pathophysiology, Infectiology and Immunology, Medical University of Vienna, Vienna, Austria.

Background: In dermatomyostis (DM) patients, inflammation, reduced activity, and medication have a negative impact on the musculoskeletal system. Several endocrine factors are involved in muscle growth and bone turnover.

Objective: We aimed to investigate factors regulating myogenesis and bone metabolism and to evaluate possible associations between these endocrine factors, muscle strength, and functional tests in DM patients. Read More

BMJ Case Rep 2021 Jan 25;14(1). Epub 2021 Jan 25.

Endocrinology, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, MAHE, Manipal, Karnataka, India

Conn's syndrome is an important endocrine cause for secondary hypertension. Hypokalaemia paralysis and rhabdomyolysis with accelerated hypertension may be the presenting symptoms of Conn's syndrome. Here, we present one such case of a 38-year-old woman presenting with accelerated hypertension and acute onset quadriplegia. Read More

Neuromuscul Disord 2021 02 19;31(2):101-112. Epub 2020 Dec 19.

Dubowitz Neuromuscular Centre, NIHR Great Ormond Street Hospital Biomedical Research Centre, Great Ormond Street Institute of Child Health, University College London, & Great Ormond Street Hospital Trust, London, UK; Dubowitz Neuromuscular Centre, Great Ormond Street Hospital for Children, London, UK. Electronic address:

Disease course of feeding difficulties in spinal muscular atrophy type 2 is not well documented. Disease-modifying therapies rapidly change the trajectory of motor function and survival in spinal muscular atrophy, but effects on co-morbidities like bulbar function are unknown. We analysed data concerning feeding problems and their standard of care treatment in 146 patients with spinal muscular atrophy type 2. Read More

Zhonghua Nan Ke Xue 2020 Jul;26(7):625-630

Center of Reproductive Medicine, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei 430030, China.

Objective: To explore the feasibility of biological fatherhood in nonobstructive azoospermia patient with Kennedy's disease and review the relevant literature.

Methods: A twenty-eight man complaining of weakness in the lower extremities for a year underwent physical and laboratory examinations and was found with azoospermia. At the request of the patient for assisted reproduction, we performed microdissection testicular sperm extraction (micro-TESE). Read More

Int J Environ Res Public Health 2020 12 25;18(1). Epub 2020 Dec 25.

Exercise & Sport Nutrition Laboratory, Human Clinical Research Facility, Texas A&M University, College Station, TX 77843, USA.

Post-exercise recovery is a broad term that refers to the restoration of training capacity. After training or competition, there is fatigue accumulation and a reduction in sports performance. In the hours and days following training, the body recovers and performance is expected to return to normal or improve. Read More

Acta Myol 2020 Sep 1;39(3):130-135. Epub 2020 Sep 1.

Department of Clinical and Experimental Medicine, University of Messina, Italy.

Endocrinopathies, such as thyroid and parathyroid diseases, disorders of the adrenal axis, and acromegaly are included among the many causes of myopathy. Muscle disturbances caused by endocrine disorders are mainly due to alterations in the protein and carbohydrate metabolisms. Either a deficiency or excess of hormones produced by the glands can cause muscle dysfunction that can be reversed by starting hormone replacement therapy or acting on hormone dysfunction. Read More

Intern Med 2021 Mar 30;60(6):953-956. Epub 2020 Nov 30.

Department of Neurology, Faculty of Medicine, University of Tsukuba, Japan.

We herein report a 39-year-old woman who had aggravated body pain, waddling gait, and fatigability for the past 2 years. A neurological examination showed hyperreflexia and proximal muscle weakness. The serum calcium level was normal (10. Read More

Radiol Med 2021 Apr 26;126(4):561-569. Epub 2020 Nov 26.

Department of Radiology, Keck School of Medicine, University of Southern California (USC), 1500 San Pablo Street, Health Sciences Campus, Los Angeles, CA, USA.

Background: In the past 20 years four major viral infectious diseases outbreaks caused hundreds of thousands of deaths worldwide: SARS, Influenza H1N1, MERS, and COVID-19. They all present clinically initially as upper and lower respiratory tract infections and may progress to multi-organ failure.

Methods: This study was a systematic review of literature conducted in September 2020 to study extra-pulmonary complications of SARS, FLU, MERS, and current COVID-19. Read More

Khirurgiia (Mosk) 2020 (11):127-133

Vishnevsky National Medical Research Center of Surgery, Moscow, Russia.

Desmoid fibroma (DF) is a rare connective tissue tumor comprising about 0.03-0.13% of all neoplasms. Read More

J Inherit Metab Dis 2021 Mar 28;44(2):415-425. Epub 2020 Sep 28.

Cardiology Unit, Necker-Enfants-Malades University Hospital, APHP, Paris, France.

TANGO2 disease is a severe inherited disorder associating multiple symptoms such as metabolic crises, encephalopathy, cardiac arrhythmias, and hypothyroidism. The mechanism of action of TANGO2 is currently unknown. Here, we describe a cohort of 20 French patients bearing mutations in the TANGO2 gene. Read More

BMJ Case Rep 2020 Sep 9;13(9). Epub 2020 Sep 9.

Department of Endocrine and Breast Surgery, Madras Medical College and Research Institute, Chennai, Tamil Nadu, India.

Adrenocortical carcinomas (ACCs) are rare malignancies with an incidence of one to two per million per year. Aldosterone-producing ACCs (APACs) are extremely rare with an incidence less than 1%. We describe a rare case of APAC, presenting with episodic lower-limb weakness and hypertension. Read More

Clin Rheumatol 2020 Nov 27;39(11):3195-3204. Epub 2020 Aug 27.

Department of Clinical and Experimental Medicine, Immuno-Endocrine Section of Internal Medicine, Laboratory of Primary Human Cells, School of Medicine, University of Pisa, Via Savi, 10, I-56126, Pisa, Italy.

Introduction: Covid-19 infection poses a serious challenge for immune-compromised patients with inflammatory autoimmune systemic diseases. We investigated the clinical-epidemiological findings of 1641 autoimmune systemic disease Italian patients during the Covid-19 pandemic.

Method: This observational multicenter study included 1641 unselected patients with autoimmune systemic diseases from three Italian geographical areas with different prevalence of Covid-19 [high in north (Emilia Romagna), medium in central (Tuscany), and low in south (Calabria)] by means of telephone 6-week survey. Read More

Medicina (Kaunas) 2020 Aug 24;56(9). Epub 2020 Aug 24.

Department of Internal and Pediatric Nursing, Institute of Nursing and Midwifery, Medical University of Gdansk, 80-211 Gdańsk, Poland.

Recently, progress has been observed in the knowledge about Duchenne Muscular Dystrophy (DMD), which is a severe and commonly diagnosed genetic myopathy in childhood, historically resulting in early death. Currently, there are a lot of methods available to improve the clinical course of DMD and extend patients' life expectancy to more than 30 years of age. The key issue for DMD patients is the period between 16-18 years of age, which is described as a transition from pediatric- to adult-oriented healthcare. Read More

Z Rheumatol 2021 Mar;80(2):140-148

Laboratory of Experimental Rheumatology and Neuroendocrine Immunology, Department of Internal Medicine, University Medical Center, 93042, Regensburg, Germany.

Background: Water retention is a typical feature of acute inflammatory episodes, chiefly implemented by the sympathetic nervous system (SNS) and the hypothalamic-pituitary-adrenal (HPA) axis. This is an important compensatory mechanism counteracting expected water loss, e.g. Read More

J Clin Rheumatol 2020 Jul 23. Epub 2020 Jul 23.

Department of Neurology, the First Medical Centre, Chinese PLA General Hospital, Beijing, China.

Dystrophia myotonica type 1 (DM1) and DM2 are the most common muscular dystrophies. In both diseases, the skeletal muscle is the most severely affected. Additional symptoms are also involved in the eye, heart, brain, endocrine glands, gastrointestinal tract, skin, skeleton, and peripheral nerves. Read More

Internist (Berl) 2020 Aug;61(8):860-868

Klinik für Dermatologie und Allergologie, Universitätsklinikum Marburg (UKGM), Baldingerstraße, 35043, Marburg, Deutschland.

Skin diseases represent the second most common paraneoplastic manifestations after endocrine disorders. Paraneoplastic dermatoses may arise as the first clinical sign of occult malignancies, or manifest during the course of a previously diagnosed neoplasm. Dermatoses belonging to the group of obligate paraneoplastic syndromes manifest only in the presence of underlying malignancies. Read More