Results 221 to 230 of about 282,476 (297)

A review of childhood rotavirus vaccination policies and a presentation of vaccine coverage trends at national and regional level, Italy, 2016 to 2023. [PDF]

Euro Surveill
Farina S, Maio A, Zaino A, Russo L, Ricciardi W, Ieraci R, Villani L.   +6 more
europepmc   +1 more source

Growth Standards for Children With Smith–Magenis Syndrome (SMS)

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Smith–Magenis syndrome (SMS, OMIM 182290) is a complex syndromic diagnosis marked by neurobehavioral differences and distinct facial dysmorphisms, caused by haploinsufficiency of the retinoic acid‐1 (RAI1) gene either by a pathogenic sequence variant or deletion at chromosome 17p11.2 involving a portion or all of this gene.
Julie Hoover‐Fong, John McGready, Leah Fleming, Kerry Schulze, Folami Duncan, Alexis Leonard, Marie Christine de Blois Boucard, Danilo Moretti‐Ferreira, Andrea L. Gropman, Wendy J. Introne, Ann C. M. Smith   +10 more
wiley   +1 more source

B-cell epitope mapping of Orthoflavivirus zikaense in mother-newborn immune interaction reveals postnatal immune signatures. [PDF]

Sci Rep
Soares AP, Chávez-Olórtegui C, de Lima Neto DF, Dos Passos Cunha M, Grillo TC, da Silva MF, Silva ACB, Bertozzi APAP, Bonafé CFS, Passos SD, de Andrade Zanotto PM.   +10 more
europepmc   +1 more source

Early Enzyme Replacement Therapy Does Not Prevent the Protein Losing Enteropathy Syndrome in Neurovisceral Gaucher Disease

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gaucher disease (GD) is a rare lysosomal storage disorder characterized by multisystemic involvement. With the advent of enzyme replacement therapy (ERT), patient survival has improved, revealing new long‐term complications. We report a case of a 4‐year‐old male with severe neurovisceral GD who developed protein‐losing enteropathy (PLE ...
Vincenza Gragnaniello, Mara Cananzi, Annachiara Cavaliere, Christian Loro, Chiara Cazzorla, Daniela Gueraldi, Andrea Puma, Alberto B. Burlina   +7 more
wiley   +1 more source

Mortality and risk factors of small vulnerable newborns in 32 low- and middle-income countries. [PDF]

BMC Med
Huang Y, Zhang H, Xiong Z, Lv Y, Jia Z, Liu H, Xia W, Xu S, Chen T, Li Y.   +9 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

Changes in Donor Human Milk Use Among US Hospitals: 2018-2024. [PDF]

Pediatrics
Awan S, O'Connor L, Kortsmit K, Anstey EH, Gosdin L.   +4 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

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

Differential regulation of gene co-expression modules in muscles and liver of preterm newborns. [PDF]

Front Cell Dev Biol
Janovska P, Kobets T, Steiner Mrazova L, Svobodova M, Tesarova M, Kopecky P, Zouhar P, Rossmeisl M, Stranecky V, Kmoch S, Kopecky J.   +10 more
europepmc   +1 more source