Results 21 to 30 of about 68,890 (321)
Hepatology, EarlyView., 2022 A deleterious variant of FCHSD1 results in mTOR pathway overactivation and may cause porto‐sinusoidal vascular disorder (PSVD). The pedigree of the family demonstrated an autosomal dominant disease with variable expressivity. Whole‐genome sequencing and Sanger sequencing both validated the existence of the FCHSD1 variant and the heterozygosity of c ...
Jingxuan Shan +19 more
wiley +1 more source
Rare surfactant‐related variants in familial and sporadic pulmonary fibrosis
Human Mutation, Volume 43, Issue 12, Page 2091-2101, December 2022., 2022 Abstract The role of constitutional genetic defects in idiopathic pulmonary fibrosis (IPF) is increasingly appreciated. Monogenic disorders associated with IPF affect two pathways: telomere maintenance, accounting for approximately 10% of all patients with IPF, and surfactant biology, responsible for 1%–3% of cases and often co‐occurring with lung ...
Rachel M. Sutton +10 more
wiley +1 more source
A conservative treatment for eosinophilic cystitis
IJU Case Reports, Volume 6, Issue 1, Page 8-12, January 2023., 2023 Introduction Eosinophilic cystitis is a rare condition which causes common symptoms and may mimic other conditions. Eosinophilic cystitis has several causes such as hypereosinophilic syndrome, inflammatory diseases, neoplasia, parasites or fungal infection, IgE‐related diseases, Drug Reaction and Eosinophilia and Systemic Symptoms (DRESS) syndrome, or ...
Franco Alchiede Simonato +6 more
wiley +1 more source
Frontiers in Medicine, 2021 Uveitis associated with Vogt-Koyanagi-Harada (VKH) disease is a bilateral, chronic, granulomatous autoimmune disease associated with vitiligo, poliosis, alopecia, and meningeal and auditory manifestations.
Ahmed M. Abu El-Asrar +4 more
doaj +1 more source
A case of hypogonadtropic hypogonadism due to hypophysitis discovered by secondary male infertility
IJU Case Reports, Volume 6, Issue 1, Page 51-53, January 2023., 2023 Introduction The main causes of secondary male infertility are varicocele and aging. It is rarely caused by adult‐onset hypopituitarism. The onset of hypopituitarism is often due to brain tumors, trauma, surgery, or congenital disorders. Case presentation A 29‐year‐old man was admitted to the hospital with complaints of decreased libido and semen ...
Masatoshi Konishi +8 more
wiley +1 more source
Chronic granulomatous disease: why an inflammatory disease?
Brazilian Journal of Medical and Biological Research, 2014 Chronic granulomatous disease is a primary immunodeficiency caused by mutations in the genes encoding subunits of the phagocytic NADPH oxidase system. Patients can present with severe, recurrent infections and noninfectious conditions.
P. Roxo-Junior, H.M.L. Simão
doaj +1 more source
Geo-clustered chronic affinity: pathways from socio-economic disadvantages to health disparities [PDF]
JAMIA Open, Volume 2, Issue 3, October 2019, Pages 317-322, 2019 Our objective was to develop and test a new concept (affinity) analogous to multimorbidity of chronic conditions for individuals at census tract level in Memphis, TN. The use of affinity will improve the surveillance of multiple chronic conditions and facilitate the design of effective interventions.
arxiv +1 more source
Emerging Infectious Diseases, 2019 Granulibacter bethesdensis is a pathogen reported to cause recurrent lymphadenitis exclusively in persons with chronic granulomatous disease. We report a case of fatal meningitis caused by a highly virulent G.
Mafalda Rebelo +7 more
doaj +1 more source
Carbon Nanotubes and Chronic Granulomatous Disease
Nanomaterials, 2014 Use of nanomaterials in manufactured consumer products is a rapidly expanding industry and potential toxicities are just beginning to be explored.
Barbara P. Barna +2 more
doaj +1 more source
Deep Neural Network Based Ensemble learning Algorithms for the healthcare system (diagnosis of chronic diseases) [PDF]
arXiv, 2021 learning algorithms. In this paper, we review the classification algorithms used in the health care system (chronic diseases) and present the neural network-based Ensemble learning method. We briefly describe the commonly used algorithms and describe their critical properties.
arxiv