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Retrospectively diagnosed familial hypocalciuric hypercalcaemia following total parathyroidectomy in an asymptomatic patient.
EJIFCC
December 2024
Department of Chemical Pathology, Inkosi Albert Luthuli Central Hospital, National Health Laboratory Service and University of KwaZulu Natal, Durban, South Africa.
Background: Familial hypocalciuric hypercalcemia (FHH) is a rare, benign condition that shares characteristics with primary hyperparathyroidism (PHPT), a more sinister condition that requires surgical intervention. This case report demonstrates misdiagnosis of FHH and highlights important learning points to prevent this in the future.
Case Presentation: Hypercalcaemia was incidentally discovered in a 21-year-old patient who had no symptoms of hypercalcaemia and no significant family history.
Femoral neck fracture in a senile patient with primary hyperparathyroidism: A case report.
Medicine (Baltimore)
November 2024
Department of Joint and Hand Orthopedics, Hunan University of Medicine General Hospital, Huaihua, China.
Rationale: As a rare cause of femoral neck fracture, usually, hyperparathyroidism is missed diagnosed by orthopedist. Patient can present with various disappearance of clinical manifestations. Primary hyperparathyroidism in senile male population is commonly an asymptomatic disorder discovered incidentally through routine lab testing.
View Article and Find Full Text PDFUp-to-Date Imaging for Parathyroid Tumor Localization in MEN1 Patients with Primary Hyperparathyroidism: When and Which Ones (A Narrative Pictorial Review).
Diagnostics (Basel)
December 2024
Department of Nuclear Medicine and Molecular Imaging, Institut de Cancérologie de Strasbourg Europe (ICANS), University Hospitals of Strasbourg, University of Strasbourg, 67200 Strasbourg, France.
Patients diagnosed with multiple endocrine neoplasia type-1 (MEN1) often initially present with primary hyperparathyroidism (pHPT), and typically undergo surgical intervention. While laboratory tests are fundamental for diagnosis, imaging is crucial for localizing pathological parathyroids to aid in precise surgical planning. In this pictorial review, we will begin by comprehensively examining key imaging techniques and their established protocols, evaluating their effectiveness in detecting abnormal parathyroid glands.
View Article and Find Full Text PDF[Clinical and genetic characteristics analysis of two children with comorbidity of two rare genetic diseases].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
October 2025
Department of Pediatric Neurology, the Third Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China.
Objective: To explore the clinical and genetic characteristics of two children diagnosed with two rare genetic diseases simultaneously.
Methods: Two children with comorbidity of two genetic diseases due to dual genetic mutations diagnosed at the Third Affiliated Hospital of Zhengzhou University respectively in May 2022 and March 2023 were selected as the study subjects. Clinical and genetic data of the two children were retrospectively analyzed.
Bone health ECHO case report: High bone mass in a patient with chronic kidney disease.
J Clin Densitom
December 2024
New Mexico Clinical Research & Osteoporosis Center, Albuquerque, NM, United States. Electronic address:
Bone Health ECHO (Extension of Community Healthcare Outcomes) is a growing family of online educational programs. Its mission is to enhance delivery of best practice skeletal healthcare worldwide. Each program typically consists of a didactic lecture and discussion of clinical cases with diagnostic and treatment dilemmas.
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