Endocrine Challenges in Myoclonic Epilepsy With Ragged Red Fibers Syndrome: A Case Report.

Myoclonic epilepsy with ragged red fibers (MERRF) syndrome is a primary mitochondrial disorder characterized by myoclonus, epilepsy, ataxia, and muscle fiber abnormalities. While traditionally associated with neurological features, MERRF's multisystem nature extends to endocrine dysfunction, including diabetes mellitus, thyroid disorders, and adrenal abnormalities. This case report explores the multifaceted nature of MERRF syndrome by presenting the clinical journey of a 70-year-old woman who sought care at the endocrinology clinic due to coexisting Addison's disease and diabetes mellitus, marked by recurrent hypoglycemia and suboptimal metabolic control.

IgA vasculitis with severe renal manifestation.

IgA vasculitis is a rare systemic vasculitis in adults, frequently more severe than in paediatric age. It manifests with cutaneous, articular, gastrointestinal and renal involvement.We present a case of a man in his 40s diagnosed with IgA vasculitis with cutaneous, joint, gastrointestinal and renal disease.

Acquired haemophilia A associated to autoimmune thyroiditis and pangastritis.

Acquired haemophilia A is a rare condition defined by the presence of coagulation inhibitors, which are autoantibodies directed against factor VIII that interfere with its activity. We report a case of a 69-year-old woman that presented with knee haemarthrosis followed by spontaneous retroperitoneal haematoma. On coagulation studies, she presented normal prothrombin time with prolonged activated partial thromboplastin time non-correcting on mixture test, low titers of factor VIII and was detected factor VIII inhibitor that led to diagnosis of acquired haemophilia A.

Analysis of nondiagnostic results in a large series of thyroid fine-needle aspiration cytology performed over 9 years in a single center.

Objective: Thyroid fine-needle aspiration cytology (FNAC) is the most valuable, cost-effective and accurate method for the evaluation of patients with thyroid nodules. One of its limitations is that up to 20% of results are nondiagnostic or unsatisfactory. The aim of this study was to analyze the number of thyroid FNAC specimens with nondiagnostic results obtained on an outpatient basis and how many of these had to be repeated according to their results.