Results 61 to 70 of about 602,324 (304)
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT CHARGE syndrome is a rare congenital disorder primarily attributed to heterozygous pathogenic variants of the CHD7 gene. Most pathogenic CHD7 variants are loss‐of‐function (LoF) variants, whereas the interpretation of missense variants remains challenging in the absence of functional evidence for their pathogenicity.
Takashi Okuno +8 more
wiley +1 more source
Frontiers in PsychiatryIntroductionIt is well established that a premature birth increases the likelihood of developing anxiety during the postpartum period, and that the environment of the neonatal intensive care unit (NICU) might be a contributing factor.
Semra Worrall +6 more
doaj +1 more source
PLoS ONE, 2018 Digestion of milk proteins in the premature infant stomach releases functional peptides; however, which peptides are present has not been reported. Premature infants are often fed a combination of human milk and bovine milk fortifiers, but the variety of
Søren D Nielsen +3 more
doaj +1 more source
Extending the ATP9A‐Related Phenotypic Spectrum: Indication of Schizophrenia Susceptibility
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.ABSTRACT ATP9A, which belongs to the P4‐ATPase family of proteins, is involved in the efficient transport of vesicles from the Golgi apparatus to the plasma membrane, as well as the release of extracellular vesicles from human cells. In 2021, a loss‐of‐function variant of this gene was identified as being associated with a recessive neurodevelopmental ...
Camille Verebi +10 more
wiley +1 more source
Health disparities in chronic liver disease
Hepatology, EarlyView., 2022 Abstract The syndemic of hazardous alcohol consumption, opioid use, and obesity has led to important changes in liver disease epidemiology that have exacerbated health disparities. Health disparities occur when plausibly avoidable health differences are experienced by socially disadvantaged populations.
Ani Kardashian +3 more
wiley +1 more source
Fatal Cronobacter sakazakii Sequence Type 494 Meningitis in a Newborn, Brazil
Emerging Infectious Diseases, 2018 We describe a case of infection with Cronobacter sakazakii sequence type 494 causing bacteremia and meningitis in a hospitalized late premature infant in Brazil.
Cláudia Elizabeth Volpe Chaves +8 more
doaj +1 more source
Maternal Stressor Agents with Premature Infants in Neonatal Intensive Care Units [PDF]
Introduction: Birth of a premature infant is associated with separation from family and hospitalizationActually, parents would undergo a lot of stress. The present study aimed to determine stressor agents of the mothers with premature infants admitted ...
مهرنوش, نسرین +3 more
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American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Arthrogryposis multiplex congenita (AMC) is defined as the presence of joint contractures affecting at least two body regions at birth. Three different ERGIC1 variants have been reported in individuals with AMC. Here, we report on a 16‐year‐old male with a homozygous ERGIC1 c.250+1G>A variant that was classified as a variant of uncertain ...
Lauren Kerr +7 more
wiley +1 more source
Clinics, 2012 OBJECTIVES: This study sought to determine the level of agreement between behavioral and multidimensional pain assessment scales in term newborn infants submitted to an acute nociceptive stimulus.
Maria Carmenza Cuenca Arias +1 more
doaj +1 more source
Fluid and Electrolyte Management in the Premature Infant
, 2008 Caring for the premature infant in the NICU requires knowledge and understanding of the physiologic adaptation to extrauterine life and how prematurity affects that transition.
Jean Chow, Davina Douglas
core +1 more source