Results 61 to 70 of about 1,216,067 (294)

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, Marcelo Luiz Lima Brandão, Mara Luci Gonçalves Galiz Lacerda, Caroline Aparecida Barbosa Coelho Rocha, Sandra Maria do Valle Leone de Oliveira, Tânia Cristina Parpinelli, Luiza Vasconcellos, Stephen James Forsythe, Anamaria Mello Miranda Paniago   +8 more
doaj   +1 more source

Case Report: Hypomyelinating Leukodystrophy Type 20 (HLD20) With Novel CNP Gene Variant

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT This case report describes a child with hypomyelinating leukodystrophy type 20 (HLD20), a rare neurodegenerative disorder characterized by impaired myelin formation. The patient presented with multiple neurodevelopmental abnormalities, including delayed motor milestones, seizures, and abnormal facial features.
Malak Alghamdi, Ghaida Alghamdi, Khalid Hundallah, Dima Jamjoom, Naif Almontashiri, Essa Alharbi, Muhammad Umair, Majid Alfadhel   +7 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, Marina Serper, Norah Terrault, Lauren D. Nephew   +3 more
wiley   +1 more source

The effectiveness of video interaction guidance in parents of premature infants: A multicenter randomised controlled trial

BMC Pediatrics, 2012
Background Studies have consistently found a high incidence of neonatal medical problems, premature births and low birth weights in abused and neglected children.
Tooten Anneke, Hoffenkamp Hannah N, Hall Ruby AS, Winkel Frans, Eliëns Marij, Vingerhoets Ad JJM, van Bakel Hedwig JA   +6 more
doaj   +1 more source

Patient With Prolidase Deficiency due to an Homozygous PEPD Variant, Induced by Paternal Uniparental Isodisomy of Chromosome 19

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Uniparental disomy (UPD) is a rare phenomenon in which both copies of a chromosome are inherited from a single parent. This can lead to genomic imprinting disorders and recessive disorders due to the presence of recessive pathogenic variants in both alleles. Additionally, depending on the mechanisms by which UPD occurs, mosaic aneuploidies may
Marta Carreño‐Hidalgo, Raquel Muñoz‐Siles, Vanesa López‐González, Lidia Carreño‐Gago, Lluís Armengol Dulcet   +4 more
wiley   +1 more source

The Assessment of Sleep and Wake State of Premature Infants Hospitalized in Neonatal Intensive Care Unit (NICU) and It\'s Relation with Demographic Variables

Bihdād, 2013
Introduction: The correct development of sleep and wake immature states of premature infant has important role in maturation of brain but often, healthcare personnel neglect from this dimension of development and there are limited data about sleep and ...
F. Bastani, N. Rajai, E. Amini, H. Haghani, S. Janmohammadi   +4 more
doaj  

Differences between uni-and multidimensional scales for assessing pain in term newborn infants at the bedside

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, Ruth Guinsburg   +1 more
doaj   +1 more source

A Splice‐Region Variant Causes an Atypical Presentation of GNAS Inactivation Disorder

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in GNAS can cause a wide range of diseases including pseudohypoparathyroidism, pseudopseudohypoparathyroidism, McCune‐Albright syndrome, among others. The specific phenotypic features that may be seen are influenced by the variant type and location in the gene, whether it causes loss or gain of function, and whether it is ...
Brandon S. Stone, Swetha Ramadesikan, Regan McGinley, Scott E. Hickey, Leeran B. Dublin‐Ryan, Steven I. Estes, Victoria A. Elliott, Benjamin Karabasz, Jesse M. Hunter, Bimal P. Chaudhari, Richard K. Wilson, Daniel C. Koboldt   +11 more
wiley   +1 more source

Associations between prematurity, postpartum anxiety, neonatal intensive care unit admission, and stress

Frontiers in Psychiatry
IntroductionIt 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, Paul Christiansen, Asma Khalil, Asma Khalil, Sergio A. Silverio, Sergio A. Silverio, Victoria Fallon   +6 more
doaj   +1 more source

Survivorship of Individuals With Double Heterozygosity for Achondroplasia and Type 2 Collagenopathy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Historically, double heterozygosity, or a diagnosis of two separate, dominant genetic conditions, was often thought to be lethal in individuals with autosomal dominant skeletal dysplasias. In previously published studies of individuals with dual dysplasia diagnoses of achondroplasia and type 2 collagenopathy, infants died of respiratory ...
Valerie R. Schwartz, Andrea Schelhaas, Angela L. Duker, Ricki S. Carroll   +3 more
wiley   +1 more source