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Hypercalcemia and co-occurring TBX1 mutation in Glycogen Storage Disease Type Ib: case report.
BMC Med Genomics
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Laboratory of Clinical Immunology, Inflammation, and Allergy (LICIA), Faculty of Medicine and Pharmacy of Casablanca, Hassan II University, Casablanca, Morocco.
Glycogen Storage Disease Type Ib (GSD-Ib) is a rare autosomal recessive metabolic disorder caused by mutations in SLC37A4, leading to a deficiency in glucose-6-phosphate translocase. This disorder is characterized by impaired glycogenolysis and gluconeogenesis, resulting in clinical and metabolic manifestations. We report a three-month-old Moroccan female patient presenting with doll-like facies, hepatomegaly, dysmorphic features, and developmental delays.
View Article and Find Full Text PDFGalectin Plasmatic Levels Reveal a Cluster Associated with Disease Aggressiveness and Kidney Damage in Multiple Myeloma Patients.
Int J Mol Sci
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Research Center for Therapeutic Innovation (NUPIT-SG), Federal University of Pernambuco, Recife 50670-901, PE, Brazil.
Multiple myeloma (MM) is a malignant disease characterized by the proliferation of plasma cells, primarily in the bone marrow. It accounts for approximately 1% of all cancers and 10% of hematologic malignancies. Clinical manifestations include hypercalcemia, anemia, renal failure, and bone lesions.
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Medicina (Kaunas)
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Thoracic Surgery Department, Fondazione Policlinico Universitario Campus Bio-Medico, 00128 Rome, Italy.
Parathyroid carcinoma (PC) is a rare endocrine malignancy that poses significant diagnostic challenges due to its resemblance to benign conditions. This case series describes the clinical presentation, diagnosis, management, and short-term outcomes of four male patients (aged 54, 65, 73, and 74 years) with primary hyperparathyroidism and hypercalcemia. The preoperative diagnosis of PC remains challenging; suspicion should arise in cases of severe hypercalcemia, elevated parathyroid hormone levels, and the presence of a mass on imaging or during surgery.
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Cureus
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Diabetes and Endocrinology, University Hospitals Plymouth National Health Service (NHS) Trust, Plymouth, GBR.
Primary hyperparathyroidism (PHPT) typically presents with a spectrum of symptoms, including neuropsychiatric manifestations such as anxiety, depression, confusion, and, in severe cases, coma. While psychiatric symptoms are not uncommon in PHPT, acute psychosis is a rare presentation. In such cases, immediate control of serum calcium levels is crucial, and emergency parathyroidectomy may be required if medical management alone fails to control hypercalcemia.
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Henry Ford St. John Hospital, Detroit, Michigan, USA.
Article Synopsis
- A female neonate born to consanguineous parents exhibited severe hyperparathyroidism (NSHPT) after a C-section, showing signs of respiratory distress and skeletal abnormalities following birth.
- Diagnostic challenges included elevated calcium levels and a homozygous variant in the calcium-sensing receptor (CaSR) gene, leading to the establishment of NSHPT.
- Management of NSHPT is critical due to its high mortality risk; treatment options typically involve addressing the high calcium levels and associated metabolic issues.
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