Results 51 to 60 of about 92,272 (308)

Oral characteristics of Trisomy 8 and monosomy 18: a case report [PDF]

open access: yes, 2011
Several reports described various mosaic chromosomal syndromes characterized by alterations originated by either an excess or deficit in the number of chromosomes.
Campus, Guglielmo Giuseppe   +3 more
core   +1 more source

Wogonin Attenuates Atherosclerosis via KLF11‐Mediated Suppression of PPARα‐YAP1‐Driven Glycolysis and Enhancement of ABCA1/G1‐Mediated Cholesterol Efflux

open access: yesAdvanced Science, EarlyView.
PPARα promotes KLF11 expression and recruits KLF11 and YAP1 to form a transcription complex, where KLF11 acts as a brake in PPARα‐YAP1‐mediated glycolysis. Wogonin reshapes the metabolism of macrophages from glycolysis to fatty acid oxidation via activation of the PPARα‐KLF11‐YAP1 pathway, by which wogonin reduces inflammation and foam cell formation ...
Chuanrui Ma   +14 more
wiley   +1 more source

CHD associated with syndromic diagnoses: peri-operative risk factors and early outcomes [PDF]

open access: yes, 2015
CHD is frequently associated with a genetic syndrome. These syndromes often present specific cardiovascular and non-cardiovascular co-morbidities that confer significant peri-operative risks affecting multiple organ systems.
Cooper, David S.   +2 more
core   +1 more source

A Dual‐Modal Wearable Pulse Detection System Integrated with Deep Learning for High‐Accuracy and Low‐Power Sleep Apnea Monitoring

open access: yesAdvanced Science, EarlyView.
A dual‐modal wearable pulse detection system is developed for sleep apnea monitoring by integrating a self‐powered PENG and PPG sensor with a biomimetic fingertip structure. Through a two‐stage detection strategy, continuous PPW monitoring and on‐demand PPG detection achieve high‐accuracy sleep apnea recognition while maintaining low power consumption.
Jia Wang   +10 more
wiley   +1 more source

Cardiac Neural Crest.

open access: yesCold Spring Harbor Perspectives in Biology, 2020
Cardiac neural crest (CNC) cells are pluripotent cells derived from the dorsal neural tube that migrate and contribute to the remodeling of pharyngeal arch arteries and septation of the cardiac outflow tract (OFT).
H. Yamagishi
semanticscholar   +1 more source

Gene-based genome-wide association studies and meta-analyses of conotruncal heart defects. [PDF]

open access: yes, 2019
Conotruncal heart defects (CTDs) are among the most common and severe groups of congenital heart defects. Despite evidence of an inherited genetic contribution to CTDs, little is known about the specific genes that contribute to the development of CTDs ...
Agopian, AJ   +7 more
core   +2 more sources

Mesenteric thrombosis: An unusual complication of severe acute pancreatitis—Report of two cases

open access: yesAdvances in Digestive Medicine, EarlyView.
Abstract The incidence of acute pancreatitis is 34 per 100 000 people in the general population and is on the rise. Approximately 15% to 20% of all patients experience severe pancreatitis, with a mortality rate nearing 20%. This condition is often linked to vascular complications, although mesenteric thrombosis is a rare presentation.
Asya Zubillaga‐Mares   +5 more
wiley   +1 more source

Children With 22.Q.11.2 Deletion Syndrome: Sleep‐Disordered Breathing and Management

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Patients with 22q11.2 deletion syndrome (22q11DS) are predisposed to obstructive sleep apnea (OSA) due to an abnormal craniofacial anatomy with pharyngeal hypotonia, retrognathia, micrognathia, and glossoptosis. The aim of the study was to describe the prevalence and management of OSA in a cohort of children with 22q11DS.
Domenico Paolo La Regina   +6 more
wiley   +1 more source

Results of 102 cases of complete repair of congenital heart defects in patients weighing 700 to 2500 grams [PDF]

open access: yes, 1999
Background: Published data suggest that low birth weight is a risk factor for poor outcome in corrective surgery for many cardiac defects. Congenital heart defects in low birth weight infants are typically managed with supportive therapy or palliative ...
Hanley, Frank L.   +5 more
core   +1 more source

Tall Stature and Scoliosis Associated With a Novel Homozygous Loss‐of‐Function Missense Variant in NPR3

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT NPR3‐related tall stature is characterized by tall stature, elongated big toes, and additional epiphyses in hand and foot bones. The condition is caused by biallelic loss‐of‐function variants affecting natriuretic peptide receptor 3 (NPR3). Five individuals from four different families have been reported.
Pierre Moffatt   +4 more
wiley   +1 more source

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