Results 101 to 110 of about 1,354,756 (358)

Genotype–Phenotype Correlations, Mortality, and Clinical Insights in Keratitis–Ichthyosis–Deafness Syndrome: A Comprehensive Review and Case Report

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Keratosis–ichthyosis–deafness (KID) syndrome is a rare autosomal dominant ectodermal disease caused by mutations in the GJB2 gene, which encodes the gap junction protein Connexin 26 (Cx26) located on Chr. 13q12.11. This study presents the first mortality analysis associated with KID syndrome, focusing on a case report of a Latin American ...
Leslie Patrón‐Romero, Marco Antonio Hernández Lepe, José de Jesús Manríquez Torres, Diego Daniel Aguirre‐Gómez, Natsuo Hayashi‐Mercado, Genaro Rodríguez Uribe, Tadeo Cerón, María Ruiz‐Gamboa, Jesús Alonso Gándara‐Mireles, Ismael Lares‐Asseff, Verónica Loera‐Castañeda, Jorge Alvelais‐Palacios, Lucrecia Arzamendi‐Cepeda, Lidia Magdalena Castañeda‐González, Adolfo García‐Barrón, Francisco Yamal Quiroz Herrera, Francisco González‐Salazar, Horacio Almanza‐Reyes   +17 more
wiley   +1 more source

SKIN CARE IN YOUNG CHILDREN: INNOVATIVE APPROACHES

Медицинский совет, 2018
The article presents modern data on the ontogenesis of the skin, the formation of all its elements and structures during prenatal development and postnatal period. The modern ideas about the features of the structure of the skin in the newborn and infant
I. N. Zakharova, A. N. Kasyanova, E. B. Machneva   +2 more
doaj   +1 more source

Nutrition and Infant Health in Japan [PDF]

The model presented in this paper emphasizes the importance of the mother's nutritional intake as a determinant of infant health. Using cross-sectional market averages for 1980 and 1981 in Japan, we find that the nutrient intake of the mother during ...
Frank Chaloupka, Tadashi Yamada, Tetsuji Yamada   +2 more
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Effects of intrathecal opioids use in cesarean section on breastfeeding and newborns’ weight gaining [PDF]

, 2016
Objective: To assess the association between intrapartum intrathecal opioid use and breastfeeding and weight gain following cesarean section. Materials and methods: The prospective double-blinded study was conducted on term pregnant women, undergoing ...
Anbarafshan, Mohammad, Davari-Tanha, Fatemeh, Kaveh, Mahbod, Khashayar, Patricia, Najafi, Atabak, Rezaei Hemami, Mohsen, Yousefshahi, Fardin   +6 more
core   +1 more source

Identification and Characterization of a Novel Biallelic SLC12A2 Variant Associated With Kilquist Syndrome (OMIM #619080)

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT This study presents the case of a child with multiple congenital anomalies, severe hypotonia, and profound bilateral sensorineural hearing loss. Functional bioenergetic assessments showed no significant mitochondrial respiratory defects, and riboflavin (Rf) status evaluation excluded a deficiency in Rf transporters as a cause of hearing loss ...
Piero Leone, Alessia Nisco, Luciana de Gennaro, Maria Tolomeo, Elisa Lorefice, Giuseppe Petrosillo, Silvia Russo, Donatella De Giovanni, Claudia Rita Catacchio, Francesca Romana Lepri, Mario Ventura, Simonetta Simonetti, Albina Tummolo, Maria Barile   +13 more
wiley   +1 more source

Identification of a Second‐Hit Brain Somatic DEPDC5 Variant Supports Causality of a DEPDC5 Germline Variant of Uncertain Significance. Time for a Classification Update?

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Germline variants in DEPDC5 are a cause of familial focal epilepsy with variable foci. Affected individuals may have focal cortical dysplasia if a second brain somatic variant occurs. As access to brain tissue is limited, the second somatic hit in the brain is usually presumed if a clear pathogenic germline variant is present. Here, we present
Ala'a Alsayed, Zainab Hakim, Daria Merrikh, Maryam Khanbabaei, Navprabhjot Kaur, Walter Hader, Tyler Soule, Setareh Ashtiani, Grace Polanco‐Tovar, Morris Scantlebury, Hamed Rahi, Yang Cao, Jennifer A. Chan, Juan P. Appendino, Gerald Pfeffer, Ping Yee Billie Au, Karl Martin Klein   +16 more
wiley   +1 more source

Association between pregnancy intention and completion of newborn and infant continuum of care in Sub-Saharan Africa: systematic review and meta-analysis

BMC Pediatrics
Background The newborn and infant continuum of care such as essential newborn care, early initiation and exclusive breastfeeding, and immunisation are highly recommended for improving the quality of life and survival of infants.
Birye Dessalegn Mekonnen, Vidanka Vasilevski, Ayele Geleto Bali, Linda Sweet   +3 more
doaj   +1 more source

Exonic Variation and Its Clinical Impact in 7221 Old Order Amish

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The Amish of Lancaster County, PA has been the focus of genetic studies for many years due to its demographic history and unique genetic makeup that includes a historical bottleneck event and subsequent genetic drift, resulting in a marked decrease in genetic diversity and increased frequency of some variants that have substantially shaped the
Braxton D. Mitchell, Ebuka Onyenobi, Joshua P. Lewis, Brady Gaynor, James A. Perry, Kristin Maloney, Jeffrey R. O'Connell, Jessica Tiner, Amber L. Beitelshees, Cristopher V. Van Hout, Patrick F. McArdle, Huichun Xu, Erik G. Puffenberger, Karlla W. Brigatti, Melanie Daue, Hilary B. Whitlatch, Anna Alkelai, Alejandro A. Schäffer, John Overton, Elizabeth A. Streeten, Toni I. Pollin, Alan R. Shuldiner   +21 more
wiley   +1 more source

Investigating brain structural maturation in children and adolescents born very preterm using the brain age framework

NeuroImage, 2022
Very preterm (VP) birth is associated with an increased risk for later neurodevelopmental and behavioural challenges. Although the neurobiological underpinnings of such challenges continue to be explored, previous studies have reported brain volume and ...
Claire Kelly, Gareth Ball, Lillian G Matthews, Jeanie LY Cheong, Lex W Doyle, Terrie E Inder, Deanne K Thompson, Peter J Anderson   +7 more
doaj  

Female reproductive strategies and mother-calf relationships of common dolphins (Delphinus delphis) in the Hauraki Gulf, New Zealand : a thesis presented in partial fulfilment of the requirements for the degree of Master of Science in Zoology at Massey University, Albany, New Zealand [PDF]

, 2004
This study reviewed the habitat use, social organisation and behaviour of common dolphin groups categorised by their youngest member, as well as the behaviour of common dolphin calves of different age classes.
Schaffar-Delaney, Aline
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