2,367 results match your criteria: "Endocrine Myopathies"

Fibromyalgia syndrome (FMS) is a chronic disorder characterized by widespread musculoskeletal pain, fatigue and tenderness and closely associated with high levels of stress. FMS is therefore often considered a stress-related disease. A comparative study was conducted with 99 individuals diagnosed with FMS and a control group of 50 pain-free individuals.

View Article and Find Full Text PDF
Article Synopsis
  • Vitamin D is crucial for various aspects of health, including bone strength and immune function, with studies showing that higher levels may reduce risks of several health issues like cardiovascular diseases and diabetes.
  • Vitamin D operates through two systems: the endocrine system, which manages calcium levels and muscle function, and the intracrine/paracrine system, which affects cellular signaling and gene expression.
  • Existing clinical guidelines on vitamin D primarily focus on bone health due to the 2011 Institute of Medicine report, overlooking broader health benefits, thus new guidelines should consider comprehensive health and disease prevention rather than just skeletal effects.
View Article and Find Full Text PDF

Background: Long-COVID symptoms remain incompletely defined due to a large heterogeneity in the populations studied, case definitions, and settings of care. The aim of this study was to assess, in patients accessing care for Long-COVID, the profile of symptoms reported, the possible clustering of symptoms and cases, the functional status compared to pre-infection, and the impact on working activity.

Methods: Multicentre cohort study with a collection of both retrospective and prospective data.

View Article and Find Full Text PDF

Activation of the apelin/APJ system by vitamin D attenuates age-related muscle atrophy.

Life Sci

December 2024

Division of Endocrine and Kidney Disease Research, Department of Chronic Disease Convergence Research, National Institute of Health, Cheongju 28159, Republic of Korea. Electronic address:

Aims: Age-related frailty and reduced physical activity contribute to a degenerative loss of muscle mass, function, and strength, which is known as sarcopenia. Increasing evidence has shown that vitamin D has beneficial effects on the muscle health. However, the molecular mechanisms of vitamin D have not been fully elucidated.

View Article and Find Full Text PDF

During pregnancy, fetal growth could lead to changes in human biomechanics. If postpartum recovery was not properly managed, it could be exacerbated, resulting in myofascial system disorders and various functional impairments. Among them, pain-related functional disorders were an important issue affecting quality of life in postpartum women.

View Article and Find Full Text PDF

Immunometabolic changes and potential biomarkers in CFS peripheral immune cells revealed by single-cell RNA sequencing.

J Transl Med

October 2024

Department of Endocrinology and Metabolism, Cheeloo College of Medicine, Qilu Hospital, Shandong University, Jinan, 250012, China.

Article Synopsis
  • The study investigates the immune and metabolic profiles of Myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS) using single-cell RNA sequencing of blood cells from patients and healthy controls, revealing significant cellular composition changes.
  • It shows an increase in T cells but a notable decrease in other immune cells like NKs and monocytes, suggesting complex alterations in immune function among ME/CFS patients.
  • The research identifies potential biomarkers and pathways, such as ESRRA-APP-CD74, linking immune dysfunction to neurological symptoms, hinting at the disease's autoimmune and immunodeficiency aspects.
View Article and Find Full Text PDF

Acute Quadriparesis: A Rare Presenting Manifestation of an Adrenal Tumor.

Cureus

September 2024

Radiodiagnosis, Saveetha Medical College and Hospital, Saveetha Institute of Medical and Technical Sciences, Saveetha University, Chennai, IND.

Article Synopsis
  • Acute quadriparesis was seen in a 54-year-old woman with sudden weakness in all limbs, prompting extensive investigation due to its serious nature.
  • Initial tests showed low potassium levels (hypokalemia), which were treated with IV potassium, leading to improved strength; potential causes like Guillain-Barré syndrome were ruled out.
  • Imaging revealed an adrenal tumor, and after surgery to remove it, the patient fully recovered, highlighting the need to consider endocrine disorders in similar cases and the importance of thorough diagnosis and management.
View Article and Find Full Text PDF
Article Synopsis
  • Feto-maternal microchimerism refers to the exchange of cells between a mother and her fetus during pregnancy, impacting health for both parties even into later life.
  • The effects of these transferred cells can be harmful for the mother—linked to complications like pre-eclampsia and autoimmune diseases—but may also have beneficial roles in tissue healing and disease recovery.
  • Research is limited on how maternal microchimeric cells could contribute to autoimmune conditions in the child, particularly conditions like Type 1 diabetes and neonatal lupus, where these cells might either harm or assist in the immune response.
View Article and Find Full Text PDF

A male of East Asian background in his 30s presented to the emergency department with acute onset global muscle weakness, elevated creatine kinase, profound hypokalaemia and hyperthyroidism. A diagnosis of thyrotoxic periodic paralysis was made and the myopathy resolved promptly with potassium replacement. However, 3 months after being commenced on carbimazole for hyperthyroidism, the patient developed myalgias without weakness associated with an elevated creatine kinase.

View Article and Find Full Text PDF

Cancer Risk in Patients With Muscular Dystrophy and Myotonic Dystrophy: A Register-Based Cohort Study.

Neurology

October 2024

From the Department of Molecular Medicine and Surgery, Center for Molecular Medicine (C.M.G., G.T., F.T., A.S.N., A.N.), Unit of Epidemiology, Institute of Environmental Medicine (G.T.), and Department of Women's and Children's Health (T.S.), Karolinska Institutet; Department of Clinical Genetics and Genomics (F.T., A.N.), Department of Radiology (A.S.N.), and Department of Child Neurology, Astrid Lindgren Children's Hospital (T.S.), Karolinska University Hospital, Stockholm; Department of Clinical Genetics and Genomics (A.N.), Sahlgrenska University Hospital, Gothenburg; and Institute of Biomedicine, Department of Laboratory Medicine (A.N.), University of Gothenburg, Sweden.

Background And Objectives: Muscular dystrophies and myotonic disorders are genetic disorders characterized by progressive skeletal muscle degeneration and weakness. Epidemiologic studies have found an increased cancer risk in myotonic dystrophy, although the cancer risk spectrum is poorly characterized. In patients with muscular dystrophy, the cancer risk is uncertain.

View Article and Find Full Text PDF

Introduction: AADCd is an ultrarare, underdiagnosed neurometabolic disorder for which a screening test (3-OMD dosing on dried blood spot (DBS)) and targeted gene therapy (authorized in the EU and the UK) are available. Therefore, it is mandatory to raise awareness of presenting symptoms and signs among practitioners. Delivering scientifically sound information to promote screening of patients with the correct cluster of symptoms and signs would be critical.

View Article and Find Full Text PDF

The kidney-skeletal muscle-heart axis in chronic kidney disease: implications for myokines.

Nephrol Dial Transplant

August 2024

Center for Applied Medical Research (CIMA), and School of Medicine, University of Navarra, Pamplona, Spain.

Myokines are signalling moieties released by the skeletal muscle in response to acute and/or chronic exercise, which exert their beneficial or detrimental effects through paracrine and/or autocrine pathways on the own muscle and through endocrine pathways in many other organs (e.g. the heart).

View Article and Find Full Text PDF

Severe Respiratory and Swallowing Disorders in Infantile-Onset Multisystem Neurologic, Endocrine, and Pancreatic Disease Type 1: Two Cases.

Neurol Genet

October 2024

From the APHP (E.B., C.G.), Service de Neurologie, Hôpital Raymond Poincaré, Garches; APHP (E.B., C.G.), Centre de référence Nord-Est-Ile-de-France, FHU PHENIX; Université de Versailles Saint-Quentin-en-Yvelines (E.B.), U 1179 INSERM, Paris-Saclay; Centre de Biologie Est (P.L., L.V.), Hospices Civils, Lyon; Department of Pediatric Radiology (K.L.), Hôpital Necker-Enfants Malades, Paris; Sorbonne Université (N.B.R., T.E.), UMRS974, - INSERM, Centre de Recherche en Myologie, Institut de Myologie Paris; APHP (N.B.R., E.L., T.E.), Unité de Morphologie neuromusculaire, Centre de référence des maladies neuromusculaires Nord-Est-Ile-de-France; and APHP (T.S.), Sorbonne Université, Service de Neuromyologie, Centre de référence Nord-Est-Ile-de-France, Institut de Myologie, Hôpital Pitié-Salpêtrière, Paris, France.

Article Synopsis
  • The study aimed to broaden the understanding of IMNEPD1, a rare genetic disorder, particularly in patients with neuropathy and pancreatic lipomatosis.
  • Two elderly sisters showed severe neurological symptoms, including sensorimotor neuropathy, hearing loss, and respiratory issues, requiring wheelchairs and ventilation later in life.
  • Genetic analysis revealed a likely pathogenic variant in both sisters, suggesting that testing for this gene is essential for patients with similar gastrointestinal and neurological issues.
View Article and Find Full Text PDF

Dynamin-2 mutations linked to neonatal-onset centronuclear myopathy impair exocytosis and endocytosis in adrenal chromaffin cells.

J Neurochem

September 2024

Instituto de Fisiología, Biología Molecular y Neurociencias. CONICET. Departamento de Fisiología y Biología Molecular y Celular. Facultad de Ciencias Exactas y Naturales. Universidad de Buenos Aires, Buenos Aires, Argentina.

Dynamins are large GTPases whose primary function is not only to catalyze membrane scission during endocytosis but also to modulate other cellular processes, such as actin polymerization and vesicle trafficking. Recently, we reported that centronuclear myopathy associated dynamin-2 mutations, p.A618T, and p.

View Article and Find Full Text PDF

Rationale: Hashimoto thyroiditis (HT), a common cause of hypothyroidism, has shown an increasing incidence in recent years, particularly among women. In addition to the common complications such as lipid metabolism disorders, patients with HT may also experience some serious complications, acute kidney injury and severe muscle damage for instance. This article explored the effectiveness of levothyroxine sodium tablets (L-T4) replacement therapy in severe complications of hypothyroidism, including treatment dosage, duration of complication recovery, and whether additional treatment is needed.

View Article and Find Full Text PDF

SMAD4 mutations causing Myhre syndrome are under positive selection in the male germline.

Am J Hum Genet

September 2024

MRC Weatherall Institute of Molecular Medicine, Oxford OX39DS, UK; Nuffield Division of Clinical Laboratory Sciences, Radcliffe Department of Medicine, University of Oxford, Oxford OX39DS, UK; NIHR Oxford Biomedical Research Centre, Oxford OX39DU, UK. Electronic address:

Article Synopsis
View Article and Find Full Text PDF

Van Wyk-Grumbach syndrome (VWGS) refers to the development of peripheral precocious puberty, long-standing hypothyroidism, and gonadal masses; when not diagnosed, an unnecessary gonadectomy may be performed. Herein, we present a case of a 10-year-old girl with Down's syndrome, short stature, and vitiligo who presented to our hospital with vaginal bleeding and a palpable pelvic mass. Upon ultrasound and topographical examination, bilateral ovarian masses with negative tumor markers were detected.

View Article and Find Full Text PDF

Diagnostic and predictive abilities of myokines in patients with heart failure.

Adv Protein Chem Struct Biol

July 2024

Department of Internal Medicine II, Division of Cardiology,  Paracelsus Medical University, Salzburg, Austria. Electronic address:

Article Synopsis
  • Myokines are a diverse group of proteins released by muscle cells that have various effects on the body, impacting communication between muscles and organs like the brain, liver, and fat tissues.
  • They play crucial roles in processes such as muscle growth, inflammation, energy balance, and adaptation to exercise, while also being linked to many health conditions.
  • Recent research has identified over 250 myokines, with some, like myostatin and interleukin-6, showing potential as biomarkers for heart failure and helping to predict disease progression.
View Article and Find Full Text PDF
Article Synopsis
  • The study investigates the discrepancies between patient-reported and physician-assessed symptoms of Cushing's syndrome (CS), highlighting challenges in early diagnosis and treatment.
  • It includes a retrospective analysis of 52 patients with CS to compare their reported manifestations with those identified by physicians, focusing on typical and nonspecific symptoms.
  • Findings reveal that while patients correlated well with physicians on nonspecific symptoms, they reported fewer typical symptoms, which are critical for diagnosis, indicating that patients may not recognize these typical features as problems.
View Article and Find Full Text PDF

Thyroid dysgenesis associated with dwarfism, osteoporosis and spontaneous fractures in a goat.

J Comp Pathol

August 2024

Departamento de Cínica e Cirurgia Veterinárias, Escola de Veterinária, Universidade Federal de Minas Gerais, Avenida Antônio Carlos 6627, 31270-901, Belo Horizonte, Minas Gerais, Brazil. Electronic address:

An 11-month-old female Saanen goat, weighing 12.7 kg, was taken to the Veterinary Hospital of the Federal University of Minas Gerais because of sternal recumbency. On clinical examination, the animal was much smaller than expected and had hair similar to that of puppies and areas of hyperpigmentation on the head and dorsocervical and dorsothoracic cranial regions.

View Article and Find Full Text PDF

Objectives: To investigate the most common concomitant symptoms and the urgent demand of solution in the breast cancer patients undergoing postoperative endocrine treatment, as well as the acceptance and expectation of acupuncture in the patients so as to provide the scientific data for promoting the application of acupuncture in the breast cancer patients.

Methods: Breast cancer patients treated in Tianjin Medical University Cancer Institute and Hospital from January 2022 to March 2023 were randomly selected as the subjects. Using "questionnaire star" website, the questionnaire was conducted to investigate the relevant concomitant symptoms of the patients in postoperative endocrine treatment and the questions related to acupuncture treatment.

View Article and Find Full Text PDF

Fibromyalgia (FM) is a central disorder characterized by chronic pain, fatigue, insomnia, depression, and other minor symptoms. Knowledge about pathogenesis is lacking, diagnosis difficult, clinical approach puzzling, and patient management disappointing. We conducted a theoretical study based on literature data and computational analysis, aimed at developing a comprehensive model of FM pathogenesis and addressing suitable therapeutic targets.

View Article and Find Full Text PDF