Results 61 to 70 of about 35,742 (204)

Response of an Infant With Presumed Multiple Acyl‐CoA Dehydrogenase Deficiency (MADD) to Ketone Supplementation

American Journal of Medical Genetics Part A, Volume 200, Issue 9, Page 2140-2150, September 2026.
ABSTRACT Multiple Acyl‐CoA Dehydrogenase Deficiency (MADD) is an autosomal recessive inborn error of metabolism caused by biallelic pathogenic variants in one of three known genes: ETFA, ETFB, and ETFDH. It can cause multisystem dysfunction, including cardiomyopathy in severe cases.
Yutaka Furuta, Kaitlyn N. Bloom, Jerry Vockley, Angela R. Grochowsky, Neena S. Agrawal, Ellen W. Strickler, Natalie N. Owen, Erica T. Gray, B. Lakshitha A. Perera, Eric R. Gamazon, Lynette C. Rives, Hua‐Chang Chen, Qi Liu, Rizwan Hamid, Joy D. Cogan, John A. Phillips III, Thomas A. Cassini, Bryce A. Schuler   +17 more
wiley   +1 more source

A Clinically Aligned Two‐Stage Machine Learning Framework for Predicting Hungry Bone Syndrome After Parathyroidectomy

Endocrinology, Diabetes &Metabolism, Volume 9, Issue 5, September 2026.
A clinically aligned two‐stage machine learning framework integrates preoperative and perioperative features to predict hungry bone syndrome after parathyroidectomy. Explainable risk stratification may support individualised calcium management and early intervention for high‐risk patients.
Shih‐Min Yin, Yu‐Chieh Lin, Tzu‐Hsun Hung, Shen‐En Chou, Shun‐Yu Chi, Fong‐Fu Chou, Yi‐Ju Wu, Si‐Yuan Wu, Jenn‐Jier James Lien, Po‐Chih Kuo, Yi‐Chia Chan   +10 more
wiley   +1 more source

Atrial fibrillation as the initial presentation of non-Hodgkin lymphoma-induced hypercalcemia

Journal of Rare Diseases
Background Hypercalcemia caused by non-Hodgkin B-cell lymphomas is not common, and it rarely manifests as the first presentation for medical attention.
Tilan Aponso, W. M. D. A. S. Wanninayake, R. M. S. K. Ratnayake, Dilruk Rathnayake   +3 more
doaj   +1 more source

Expanding Spectrum of FIG4‐Related Neurological Disorders of Lysosomal Homeostasis: Case Report and Overview of the Potential Genotype–Phenotype Correlations

Clinical Genetics, Volume 110, Issue 3, Page 363-368, September 2026.
FIG4 is essential for lysosomal homeostasis. FIG4‐related disorders present as a continuous spectrum from the juvenile lethality in Yunis‐Varon syndrome to an increased risk of amyotrophic lateral sclerosis (ALS) in adult life. FIG4‐related disorders comprise a novel group of disorders of lysosomal homeostasis and can be classified into severe ...
Pankaj Prasun, Matthew Rasberry
wiley   +1 more source

Adverse events in bedaquiline‐ and pretomanid‐based regimens for drug‐resistant tuberculosis from trial, implementation and pharmacovigilance studies

British Journal of Clinical Pharmacology, Volume 92, Issue 8, Page 2607-2623, August 2026.
Abstract The availability of safety data, particularly concerning adverse events (AEs) associated with the new shorter regimen for drug‐resistant tuberculosis (TB) containing a bedaquiline–pretomanid‐based regimen, is still limited. This systematic review aims to provide a comprehensive and updated analysis of AEs related to this new regimen by ...
Nisa Maria, Annisa Lazuardi Larasati, Indri Yuliani Hamdani, Jin‐Gun Cho, Jan‐Willem C. Alffenaar   +4 more
wiley   +1 more source

Calvarial Metastasis of Breast Carcinoma Manifesting as a New Daily Persistent Headache: A Case Report

Clinical Case Reports, Volume 14, Issue 8, August 2026.
ABSTRACT New‐onset daily persistent headache (NDPH) is a primary headache syndrome characterized by a sudden onset of daily headaches persisting for more than three months in patients with no prior headache history. We report the case of a 49‐year‐old Indian lady who presented to the neurology outpatient clinic with new daily persistent headache.
Neha Lall, Anand Kumar, Deepika Joshi, Pramod Kumar Singh   +3 more
wiley   +1 more source

Tacrolimus‐Associated Calcium Pyrophosphate Crystal Arthritis in a Kidney Transplant Recipient: An Underrecognized Condition

Clinical Case Reports, Volume 14, Issue 8, August 2026.
ABSTRACT Providers who care for renal transplant recipients should be aware of the possibility of tacrolimus‐associated CPPD in patients who present with arthritis. In the case presented, a delayed diagnosis led to the progression of symptoms and avoidable disability, underscoring the need for greater clinical awareness of this condition within the ...
Matthew Wyke, Gabrielle Hitzemann, Sergio M. Maldonado‐Chaar, Veronica A. Ortigosa Serrano, Sachalee Campbell, Franco Cabeza Rivera   +5 more
wiley   +1 more source

A novel mutation in the calcium-sensing receptor gene in an Irish pedigree showing familial hypocalciuric hypercalcemia: a case report

Journal of Medical Case Reports, 2010
Introduction Familial hypocalciuric hypercalcemia is a rare autosomal dominant disorder characterized by asymptomatic and non-progressive hypercalcemia due to mutations of the calcium-sensing receptor gene. Disorders of calcium metabolism are very common
Elamin Wael F, de Buyl Olivier
doaj   +1 more source

Use of Fibrin Sealant Combined With Demineralized Freeze‐Dried Bone Allograft in the Management of a Recurrent Mandibular Aneurysmal Bone Cyst: A Case Report

Clinical Case Reports, Volume 14, Issue 8, August 2026.
ABSTRACT Recurrent aneurysmal bone cysts of the jaw present significant therapeutic challenges. This case suggests that fibrin sealant combined with demineralized freeze‐dried bone allograft, as an adjunct to curettage, may offer a conservative option in selected young patients after failure of conventional therapies. Further studies are needed.
Zakaria Mokhtari, Christophe Politis, Firas Shall   +2 more
wiley   +1 more source

From Bone Pain to Severe Renal Symptoms: The Journey of a Patient With Multiple Myeloma and Brucellosis (Case Report)

Clinical Case Reports, Volume 14, Issue 8, August 2026.
ABSTRACT In endemic regions, markedly elevated Brucella serologic titers with a dynamic decline after treatment support true infection even in the presence of monoclonal gammopathy. Concurrent infectious and malignant processes should be considered in patients presenting with severe renal failure and overlapping systemic symptoms to avoid diagnostic ...
Maryam Ghaffari Rahbar, Tahere Zarouk Ahimahalle, Marziyeh Ghalamkari, Maedeh Olya   +3 more
wiley   +1 more source