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A Homozygous ATP2A2 Variant Alters Sarcoendoplasmic Reticulum Ca-ATPase 2 Function in Skeletal Muscle and Causes a Novel Vacuolar Myopathy.
Neuropathol Appl Neurobiol
February 2025
Department of Neurology, Neuromuscular Diseases Unit, Hospital de la Santa Creu i Sant Pau, Institut de Recerca Sant Pau (IR Sant Pau), Barcelona, Spain.
Aims: Sarcoendoplasmic reticulum Ca-ATPase 2 (SERCA2), encoded by ATP2A2, is a key protein involved in intracellular Ca homeostasis. The SERCA2a isoform is predominantly expressed in cardiomyocytes and type I myofibres. Variants in this gene are related to Darier disease, an autosomal dominant dermatologic disorder, but have never been linked to myopathy.
View Article and Find Full Text PDFA 46-Year-Old Man with an Incidental Finding of a Papillary Thyroid Carcinoma in a Thyroglossal Duct Cyst.
Am J Case Rep
December 2024
Department of Otolaryngology, Military Institute of Aviation Medicine, Warsaw, Poland.
BACKGROUND The thyroglossal duct cyst, which develops from the midline migratory tract between the foramen cecum and the anatomic location of the thyroid, is the most prevalent congenital abnormality of the neck, accounting for about 70% of all cervical neck masses in children and 7% in adults. Only up to 1% of these abnormalities contain malignant thyroid tissue, with 90% of those cases being papillary thyroid carcinoma. Thyroglossal duct cyst is rarely linked to carcinoma.
View Article and Find Full Text PDFExploring the association between pro-inflammatory mediators and sarcopenia in cancer patients through different diagnostic tools: a narrative review.
Ann Transl Med
December 2024
Post-Graduation Department, Faculty of Medical Sciences of Minas Gerais, Belo Horizonte, Brazil.
Background And Objective: Sarcopenia, characterized by the progressive loss of skeletal muscle mass (MM) and muscle function, is a common and debilitating condition in cancer patients, significantly impacting their quality of life, treatment outcomes, and overall survival. The pathophysiology of sarcopenia is multifactorial, involving metabolic, hormonal, and inflammatory changes. Recent research highlights the role of chronic inflammation in the development and progression of sarcopenia, with pro-inflammatory cytokines being key mediators of muscle catabolism.
View Article and Find Full Text PDFEctopic Thyrotropin-Secreting Tumor in the Nasopharynx Causing Central Hyperthyroidism.
JCEM Case Rep
January 2025
Section of Endocrinology and Investigative Medicine, Department of Metabolism, Digestion and Reproduction, Imperial College, London W12 ONN, UK.
We report a 31-year-old man with diarrhea and tachycardia. Diagnostic workup confirmed raised free thyroid hormones with unsuppressed thyroid stimulating hormone (TSH). Laboratory assay and medication interference were excluded.
View Article and Find Full Text PDFParietal Meningocele Under the Scalp of a Fetus Diagnosed Based on Volume Contrast Imaging of Prenatal Three-Dimensional Ultrasound Data.
Case Rep Neurol Med
January 2025
Department of Obstetrics and Gynecology, The Jikei University School of Medicine, Tokyo, Japan.
Determining the differential diagnosis of small scalp cysts identified on a fetus is difficult. In particular, many physicians have difficulty differentiating small meningoceles from small scalp cysts during the prenatal period. Volume contrast imaging increases contrast between tissues, thereby allowing an enhanced view of target structures.
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