Results 11 to 20 of about 1,012,141 (344)
European Journal of Medical Research, 2023 The etiology of pulmonary arterial hypertension (PAH) is complex, especially the investigation of rare pathogeny is difficult. Congenital portosystemic venous shunt (CPSS) is a rare congenital anomaly in which the portal blood completely or partially ...
Yunyan Li +5 more
doaj +1 more source
Bruton tyrosine kinase inhibitors in the management of Waldenström macroglobulinemia
American Journal of Hematology, Volume 98, Issue 2, Page 338-347, February 2023., 2023 Abstract Bruton tyrosine kinase (BTK) inhibitors have taken a central role in the management of patients with Waldenström macroglobulinemia and are the only agents approved by the Food and Drug Administration (FDA) to treat these patients. Although associated with high rates of durable responses, unmet needs with BTK inhibitor therapy include ...
Jorge J. Castillo +4 more
wiley +1 more source
Circulation. Cardiovascular Quality and Outcomes, 2022 Although resilience and high quality of life are demonstrated by many individuals with congenital heart disease, a range of significant psychological challenges exists across the life span for this growing patient population.
A. Kovacs +8 more
semanticscholar +1 more source
Birth defects associated with paternal firefighting in the National Birth Defects Prevention Study
American Journal of Industrial Medicine, Volume 66, Issue 1, Page 30-40, January 2023., 2023 Abstract Background Few studies have evaluated birth defects among children of firefighters. We investigated associations between birth defects and paternal work as a firefighter compared to work in non‐firefighting and police officer occupations. Methods We analyzed 1997–2011 data from the multi‐site case‐control National Birth Defects Prevention ...
Miriam R. Siegel +7 more
wiley +1 more source
Binary segmentation of medical images using implicit spline representations and deep learning [PDF]
Computer Aided Geometric Design, Volume 85, 2021, 2021 We propose a novel approach to image segmentation based on combining implicit spline representations with deep convolutional neural networks. This is done by predicting the control points of a bivariate spline function whose zero-set represents the segmentation boundary.
arxiv +1 more source
American Journal of Medical Genetics Part A, Volume 191, Issue 1, Page 228-233, January 2023., 2023 Abstract Pulmonary arterial hypertension (PAH) is a disease characterized by pathological remodeling of the pulmonary vasculature causing elevated pulmonary artery pressures and ultimately, right ventricular failure from chronic pressure overload. Heterozygous pathogenic GDF2 (encoding bone morphogenetic protein 9 (BMP9)) variants account for some (>1%)
Paul Upton +5 more
wiley +1 more source
Coarctation of the Aorta: Diagnosis and Management
Diagnostics, 2023 Coarctation of the aorta (CoA) accounts for approximately 5–8% of all congenital heart defects. Depending on the severity of the CoA and the presence of associated cardiac lesions, the clinical presentation and age vary.
Sadaf Raza +10 more
doaj +1 more source
Mental Health Disorders in Children With Congenital Heart Disease
Pediatrics, 2021 In this large cross-sectional study, the risk of mental health disorders is characterized in diverse children and adolescents with varying severity of CHD.
Vincent J. Gonzalez +6 more
semanticscholar +1 more source
American Journal of Medical Genetics Part A, Volume 191, Issue 1, Page 234-237, January 2023., 2023 Abstract Adenylosuccinase deficiency is a rare inborn error of metabolism. We present a newborn who died at 52 days of age with clinical features suggestive of severe epileptic encephalopathy and leukodystrophy of unknown cause. Post‐mortem examination showed an unusual vacuolar appearance of the brain.
Spatikha Sitaram +11 more
wiley +1 more source
American Journal of Medical Genetics Part A, Volume 191, Issue 1, Page 135-143, January 2023., 2023 Abstract We describe the phenotype of 22 male patients (20 probands) carrying a hemizygous missense variant in MED12. The phenotypic spectrum is very broad ranging from nonspecific intellectual disability (ID) to the three well‐known syndromes: Opitz–Kaveggia syndrome, Lujan–Fryns syndrome, or Ohdo syndrome.
Nuno Maia +30 more
wiley +1 more source