Results 221 to 230 of about 873,890 (306)

Severe Occupational Hypersensitivity Pneumonitis: A Case Series of Four Patients Requiring Lung Transplantation

open access: yesAmerican Journal of Industrial Medicine, EarlyView.
ABSTRACT Hypersensitivity pneumonitis (HP) is an immune‐mediated interstitial lung disease triggered by repeated inhalation of organic or chemical antigens. Occupational exposures account for approximately 19% of all cases. Early diagnosis, identification of the responsible antigen(s), and immediate avoidance of exposure are crucial to prevent ...
Ludwig Frei‐Stuber   +6 more
wiley   +1 more source

Outcomes in heart failure patients with third-degree heart block during COVID-19. [PDF]

open access: yesFront Cardiovasc Med
Kash B   +5 more
europepmc   +1 more source

Clinical Insights From a Case of Sifrim‐Hitz‐Weiss Syndrome With a CHD4 Variant: Expanding the Phenotypic Spectrum and Its Response to Growth Hormone Therapy

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT To enhance clinicians' understanding of Sifrim‐Hitz‐Weiss syndrome (SIHIWES), this study investigated the clinical phenotypes, genetic characteristics, and response to growth hormone therapy in a patient. A case of a patient with global developmental delay and distinctive facial features is presented.
Jianmei Zhang   +6 more
wiley   +1 more source

Implementation of First‐Line Rapid Genome Sequencing for Children in Pediatric and Cardiac Intensive Care Units

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Substantial data supports the use of rapid exome and genome sequencing (rES/rGS) in Neonatal Intensive Care Units (NICU), but fewer studies have examined the impact of rES/rGS in other pediatric critical care units. We evaluated the impact on diagnostic yield and time to diagnosis following a single‐center hospital policy change allowing ...
Alexandra C. Keefe   +22 more
wiley   +1 more source

Pulmonary vascular response to high-intensity interval training in deployment-related respiratory disease: a pilot clinical trial. [PDF]

open access: yesAnn Am Thorac Soc
Cillay J   +9 more
europepmc   +1 more source

Gastrointestinal Manifestations in Rubinstein‐Taybi Syndrome

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Rubinstein–Taybi syndrome is a rare genetic condition associated with a wide range of physical, cognitive, and developmental impairments, yet its gastrointestinal manifestations remain poorly characterized. Case reports and small series suggest a high prevalence of gastroesophageal reflux, constipation, dysphagia, and nutritional compromise ...
Mohamad Abi Nassif   +3 more
wiley   +1 more source

Optimizing Diagnostic Accuracy of Clinical Red Flags in RASopathies

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT RASopathies are a group of genetic disorders caused by pathogenic variants in the RAS‐mitogen‐activated protein kinase (RAS–MAPK) signaling pathway, often presenting with congenital heart defects, craniofacial dysmorphisms, and developmental delays. To assess the diagnostic yield of genetic testing in patients with suspected RASopathies and to
Emanuele Bobbio   +16 more
wiley   +1 more source

Personalized Surgical Tactics for an Adult Patient with Mitral Insufficiency and Dextrocardia with Situs Inversus Totalis. [PDF]

open access: yesBraz J Cardiovasc Surg
Kozlov BN   +6 more
europepmc   +1 more source

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