Results 21 to 30 of about 207,293 (322)
The Diagnosis of Bronchopulmonary Dysplasia in Very Preterm Infants. An Evidence-based Approach
American Journal of Respiratory and Critical Care Medicine, 2019 Rationale: Current diagnostic criteria for bronchopulmonary dysplasia rely heavily on the level and duration of oxygen therapy, do not reflect contemporary neonatal care, and do not adequately predict childhood morbidity.
E. Jensen +12 more
semanticscholar +1 more source
Are we Missing Barrett's Esophagus in Our Busy Endoscopy Practice? Improving Detection
Journal of Digestive Endoscopy, 2022 Barrett's esophagus (BE) denotes the replacement of stratified squamous epithelium of esophagus by columnar epithelium. It is associated with a significantly increased risk of esophageal adenocarcinoma and hence patients with BE are advised endoscopic ...
Amit Kumar Dutta
doaj +1 more source
An interpretable machine learning system for colorectal cancer diagnosis from pathology slides [PDF]
npj Precis. Onc. 8, 56 (2024), 2023 Considering the profound transformation affecting pathology practice, we aimed to develop a scalable artificial intelligence (AI) system to diagnose colorectal cancer from whole-slide images (WSI). For this, we propose a deep learning (DL) system that learns from weak labels, a sampling strategy that reduces the number of training samples by a factor ...
arxiv +1 more source
Jornal de Pediatria, 2020 Frontonasal dysplasia is a condition that results from abnormal development of the head and face before birth. People with frontonasal dysplasia have at least two of the following features: widely spaced eyes (ocular hypertelorism); a broad nose; a slit (
H. Sedano +3 more
semanticscholar +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
Neuroendocrine cell hyperplasia of infancy (review of modern literature — 2018)
Zdorovʹe Rebenka, 2018 The review deals with the systematization of modern world ideas about pulmonary neuroendocrine cells and a disease associated with their hyperplasia — neuroendocrine hyperplasia in infants. The pathogenesis, clinical and instrumental diagnostic criteria
O.L. Logvinova
doaj +1 more source
Indian Journal of Ophthalmology, 2016 Oculodentodigital dysplasia is a rare, autosomal dominant disorder with high penetrance and variable expressivity, caused by mutations in the connexin 43 or gap junction protein alpha-1 gene. It has been diagnosed in fewer than 300 people worldwide with an incidence of around 1 in 10 million. It affects many parts of the body, particularly eyes (oculo),
Dharmil C Doshi +3 more
openaire +3 more sources
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
Achondroplasia: a comprehensive clinical review
Orphanet Journal of Rare Diseases, 2019 Achondroplasia is the most common of the skeletal dysplasias that result in marked short stature (dwarfism). Although its clinical and radiologic phenotype has been described for more than 50 years, there is still a great deal to be learned about the ...
Richard M. Pauli
doaj +1 more source
Statistical Inference for Ordinal Predictors in Generalized Linear and Additive Models with Application to Bronchopulmonary Dysplasia [PDF]
BMC Research Notes (2022) 15:112, 2021 Discrete but ordered covariates are quite common in applied statistics, and some regularized fitting procedures have been proposed for proper handling of ordinal predictors in statistical modeling. In this study, we show how quadratic penalties on adjacent dummy coefficients of ordinal predictors proposed in the literature can be incorporated in the ...
arxiv +1 more source