Results 221 to 230 of about 507,761 (297)

Estimating the number of hospital beds for the care of sick and small newborns: an evidence-based systematic approach. [PDF]

J Glob Health
Sinha B, Kumar M, Thomas D, Strobel N, Gupta G, Edmond K, Sankar MJ.   +6 more
europepmc   +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

Effect of BCG Danish and oral polio vaccine on neonatal mortality in newborn babies weighing less than 2000 g in India: multicentre open label randomised controlled trial (BLOW2).

BMJ
Adhisivam B, Kamalarathnam C, Bhat BV, Jayaraman K, Namachivayam SP, Shann F, McSharry B, David P, Raja, Sundaram M.   +9 more
europepmc   +1 more source

RECOVER Guidelines: Newborn Resuscitation in Dogs and Cats. Evidence and Knowledge Gap Analysis With Treatment Recommendations. [PDF]

J Vet Emerg Crit Care (San Antonio)
Boller M, Burkitt-Creedon JM, Byers CG, Fletcher DJ, Farrell KS, Davidson AP, Fricke S, Bassu G, Grundy SA, Lopate C, Veronesi MC, RECOVER Newborn Resuscitation Domain Evidence Evaluators.   +11 more
europepmc   +1 more source

Trisomy 5p: Long Recognized, Rarely Published‐ Three New Cases and Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Complete trisomy 5p is a rare chromosomal disorder caused by a duplication of the short arm of chromosome 5. Current data suggest that complete trisomy 5p presents as a distinct clinical syndrome including but not limited to seizures, developmental delays, facial dysmorphisms, failure to thrive, and recurrent respiratory infections.
Gabriela J. Kim, Kristen N. Lee, Amanda B. Pritchard   +2 more
wiley   +1 more source

Effect of immediate kangaroo mother care (iKMC) on neonatal mortality and culture-positive sepsis in low-birth-weight neonates in district hospitals in Chhattisgarh, India (PRISM study): protocol for a stepped-wedge cluster randomized trial. [PDF]

Trials
Prakash S, Jindal A, Jain K, Anand R, Kumar V, Bhargava A, Mohapatra S, Wadhwa N, Agarwal R, Sankar MJ.   +9 more
europepmc   +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

South African midwives' knowledge of the benefits of delayed umbilical cord clamping. [PDF]

S Afr Fam Pract (2004)
Shosha A, Jacobs W, Janse van Rensburg Z.   +2 more
europepmc   +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

Mitochondrial Acetoacetyl-CoA Thiolase Deficiency: Three New Cases Detected by Newborn Screening Confirming the Significance of C4OH Elevation. [PDF]

Int J Neonatal Screen
Vasco A, Berardo C, Lucchi S, Cappelletti L, Tamburello G, Fazzone S, Mauri A, Fiumani F, Postorivo D, Alberti L, Perrone Donnorso M, Gasperini S, Furlan F, Fiori L, Carelli S, Saielli LA, Montrasio C, Cereda C.   +17 more
europepmc   +1 more source