Results 131 to 140 of about 51,236 (315)
Recessive germline SDHA and SDHB mutations causing leukodystrophy and isolated mitochondrial complex II deficiency [PDF]
, 2012 Background Isolated complex II deficiency is a rare form of mitochondrial disease, accounting for approximately 2% of all respiratory chain deficiency diagnoses.
Alston, CL +12 more
core +1 more source
Update on Modern Management of Pheochromocytoma and Paraganglioma
Endocrinology and Metabolism, 2017 Despite all technical progress in modern diagnostic methods and treatment modalities of pheochromocytoma/paraganglioma, early consideration of the presence of these tumors remains the pivotal link towards the best possible outcome for patients.
J. Lenders, G. Eisenhofer
semanticscholar +1 more source
Transmission ratio distortion of germline TP53 variants in Li–Fraumeni syndrome families
Cancer, Volume 131, Issue 13, 1 July 2025.Abstract Background Li–Fraumeni syndrome (LFS) is a rare autosomal‐dominant cancer‐predisposition syndrome caused by germline pathogenic or likely pathogenic variants (P/LPVs) in the TP53 gene. Classical autosomal‐dominant inheritance predicts a 50% transmission rate of TP53 P/LPV from each carrier parent to their offspring.
Naama Halpern +10 more
wiley +1 more source
A Rare Case: Sporadic Bladder Paraganglioma
Çukurova Üniversitesi Tıp Fakültesi Dergisi, 2013 Paraganglioma is a rare tumor which originates from paraganglia tissue from neural crest. Bladder paraganglioma is suggested to be from crommaffin cells by the remains of the embryological cells.
Hakan Ercil +5 more
doaj
Jornal Brasileiro de Pneumologia, 2005 Descrevemos uma paciente de 27 anos que se apresentou com paraganglioma de mediastino anterior e médio e nódulos pulmonares bilaterais. O tratamento consistiu na ressecção das lesões pulmonares através de toracotomia anterior bilateral transesternal e ...
Manoel Ximenes Netto +4 more
doaj +1 more source
Gallbladder paraganglioma with hemorrhage: A case report and literature review. [PDF]
Ann Hepatobiliary Pancreat Surg, 2021 Song SH +6 more
europepmc +1 more source
Cancers, 2019 Low-specific-activity iodine-131–radiolabeled metaiodobenzylguanidine (I-131-MIBG) was introduced last century as a potential systemic therapy for patients with malignant pheochromocytomas and paragangliomas.
C. Jimenez, W. Erwin, B. Chasen
semanticscholar +1 more source
Management of an Endobronchial Pulmonary Paraganglioma via Bronchoscopic Resection
Respirology Case Reports, Volume 13, Issue 7, July 2025.We present the case of 48‐year‐old female with a right main bronchus endobronchial lesion identified on positron emission tomography (PET) dotatate scan on a background of succinic dehydrogenase B gene mutation (SDHB) familial paraganglioma. Bronchoscopic management with argon plasma coagulation (APC) probe ablation was used to debulk the lesion which ...
Khuyen Hoang +3 more
wiley +1 more source
Molecular imaging and radionuclide therapy of paraganglioma and pheochromocytoma.
Endocrine-Related Cancer, 2019 In recent years, advancement in genetics has profoundly helped to gain a more comprehensive molecular, pathogenic, and prognostic picture of pheochromocytomas and paragangliomas (PPGLs).
D. Taieb +3 more
semanticscholar +1 more source
Extensive T‐Wave Inversion Associated With Chest Pain: Elucidating the Underlying Truth
Annals of Noninvasive Electrocardiology, Volume 30, Issue 4, July 2025.Electrocardiographic manifestations, including ST‐segment elevation in lead aVR, extensive T‐wave inversion across leads I, II, III, aVF, and V1–V6, as well as prolongation of the corrected QT interval (QTc), are indicative of several clinical entities, such as acute coronary syndrome, myocarditis, pulmonary embolism, and Takotsubo cardiomyopathy ...
Jing‐Xiu Li +3 more
wiley +1 more source