Results 61 to 70 of about 223,917 (310)
A rare cause of recurrent spontaneous pneumothorax: Birt-hogg-dube syndrome [PDF]
, 2018 Birt-Hogg-Dube (BHD) syndrome is an unusual disorder characterized by the triad of cutaneous lesions, renal tumors and lung cysts. In cases with BHD syndrome, the frequency of recurrent pneumothorax is increased due to presence of multiple lung cysts. It
Demirci, M. +3 more
core +1 more source
Hepatic Glycogen Storage Diseases in Brazil: A Multicenter Study
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT To describe clinical and laboratory characteristics, emphasizing the evolution of patients with hepatic glycogen storage diseases (GSDs) followed in Brazilian reference centers. Multicenter, retrospective study involving 13 centers, using RedCap platform. 132 patients were included: 63 (47.8%) GSD type I (56 Ia, 7 Ib), 13 (9.8%) with type III (
Mariana Pena Costa +23 more
wiley +1 more source
Frontiers in Endocrinology, 2022 IntroductionAdrenal vein sampling (AVS) is not a routine procedure in patients with primary bilateral macronodular adrenocortical hyperplasia (PBMAH), but has been used to determine lateralization of cortisol secretion in order to guide decision of ...
Ru Zhang +15 more
doaj +1 more source
Lacrimal gland tumors in Turkey: types, frequency, and outcomes. [PDF]
, 2018 AIM: To evaluate the clinical, radiological, and treatment features of lacrimal gland tumors. METHODS: Retrospective review of 99 eyes of 92 patients with lacrimal gland tumors diagnosed and managed in a single institution between January 1999 and March ...
Erden, Esra +3 more
core +2 more sources
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT The Homologous Recombination Factor With OB‐Fold (HROB) plays a role in homologous recombination and DNA replication, where it enhances the MCM8‐MCM9 helicase complex activity. Recent findings link biallelic germline HROB variants to primary gonadal insufficiency (hypergonadotropic hypogonadism), a phenotype also associated with MCM8/MCM9 ...
Noah C. Helderman +15 more
wiley +1 more source
Parathyroid localization [PDF]
, 1986 Twenty-nine consecutive patients with suspected primary hyperparathyroidism were examined preoperatively using ultrasound, sonographically guided fine needle aspiration, and aspirate immunostaining for PTH.
Borisch, B. +7 more
core +1 more source
Zebrafish and CRISPR—A synergistic approach to decipher and cure human diseases
Animal Models and Experimental Medicine, EarlyView.Zebrafish, with high genetic homology to humans, serves as a powerful vertebrate model for disease modeling and drug discovery. Integration of CRISPR/Cas9 technology enables precise genome editing, facilitating the development of translational models for human diseases.
Manikandan Sivaprakasam +4 more
wiley +1 more source
AnimalsSebaceous gland tumors are neoplasms originating from the sebaceous gland and are the third most common type of skin tumor, accounting for 21–35% of all cutaneous neoplasms in dogs.
Sanggu Kim +4 more
doaj +1 more source
Paediatric development of radiopharmaceutical imaging agents and radioligand therapeutics
British Journal of Clinical Pharmacology, EarlyView.Abstract This review focuses on the development of radiopharmaceutical imaging agents and radioligand therapeutics for paediatric use. Nuclear medicine plays an important role in the diagnosis and treatment of various childhood conditions, including cancers, infections and brain disorders.
Justin L. Hay +5 more
wiley +1 more source
β-Catenin Activated Hepatocellular Adenoma: A Report of Three Cases in Korea
Gut and Liver, 2014 Background/AimsUpregulated CD64 expression on neutrophils is the most useful marker for acute bacterial infections and systemic inflammation. However, it is unknown whether CD64 is involved in the pathogenesis of acute pancreatitis (AP).
doaj +1 more source