Results 41 to 50 of about 14,863 (260)

Unsupervised Anomaly Appraisal of Cleft Faces Using a StyleGAN2-based Model Adaptation Technique [PDF]

open access: yesarXiv, 2022
This paper presents a novel machine learning framework to consistently detect, localize and rate congenital cleft lip anomalies in human faces. The goal is to provide a universal, objective measure of facial differences and reconstructive surgical outcomes that matches human judgments.
arxiv  

Expanding the clinical spectrum associated with the PACS1 p.Arg203Trp mutational hot‐spot: Two additional Italian patients

open access: yes, 2023
American Journal of Medical Genetics Part A, Volume 191, Issue 1, Page 284-288, January 2023.
Lucia Pia Bruno   +11 more
wiley   +1 more source

Maternal smoking during pregnancy and birth defects in children: a systematic review with meta-analysis [PDF]

open access: yesCadernos de Saúde Pública, 2014
This systematic review aimed to investigate the association between maternal smoking during pregnancy and birth defects in children. We performed an electronic search of observational studies in the databases ovid MEDLINE (1950 to April 2010), LILACS and
Dilvania Nicoletti   +4 more
doaj   +3 more sources

Infant mortality across species. A global probe of congenital abnormalities [PDF]

open access: yes, 2019
Infant mortality, by which we understand the postnatal stage during which mortality is declining, is a manifestation and embodiment of congenital abnormalities. Severe defects will translate into death occurring shortly after birth whereas slighter anomalies may contribute to death much later, possibly only in adult age.
arxiv   +1 more source

A review of the sufficient conditions for consciousness [PDF]

open access: yesarXiv, 2023
How subjective experience (i.e., consciousness) arises out of objective material processes has been called the hard problem. The neuroscience of consciousness has set out to find the sufficient conditions for consciousness and theoretical and empirical endeavours have placed a particular focus on the cortex and subcortex, whilst discounting the ...
arxiv  

Cornelia de Lange syndrome and cancer: An open question

open access: yes, 2023
American Journal of Medical Genetics Part A, Volume 191, Issue 1, Page 292-295, January 2023.
Maria M. Pallotta   +8 more
wiley   +1 more source

Polydactyly 24 in a Female Neonate

open access: yesCase Reports in Obstetrics and Gynecology, 2013
Polydactyly is perhaps one of the most common congenital hand and foot anomalies. Tetrapolydactyly (polydactyly 24) is a very rare form of hand and foot anomalies.
Oluseyi O. A. Atanda   +3 more
doaj   +1 more source

A discrete event system specification (DEVS)-based model of consanguinity [PDF]

open access: yesJournal of theoretical biology, 285(1), 103-112 (2011), 2017
Consanguinity or inter-cousin marriage is a phenomenon quite prevalent in certain regions around the globe. Consanguineous parents have a higher risk of having offspring with congenital disorders. It is difficult to model large scale consanguineous parental populations because of disparate cultural issues unique to regions and cultures across the globe.
arxiv   +1 more source

Combination Therapy With Vigabatrin and Prednisolone Versus Vigabatrin Alone for Infantile Spasms

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective The study evaluated the effectiveness of combination therapy with vigabatrin and prednisolone versus vigabatrin alone for treating infantile epileptic spasms syndrome (IESS). Methods This single‐center, single‐blind, randomized trial enrolled infants aged 2–14 months with new‐onset IESS, randomly assigned them (1:1) to receive either
Rachata Boonkrongsak   +6 more
wiley   +1 more source

A link between solar events and congenital malformations: Is ionizing radiation enough to explain it? [PDF]

open access: yesJournal of Geophysical Research: Space Physics 120.3, 1537-1542 (2015), 2015
Cosmic rays are known to cause biological effects directly and through ionizing radiation produced by their secondaries. These effects have been detected in airline crews and other specific cases where members of the population are exposed to above average secondary fluxes.
arxiv   +1 more source

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