Results 241 to 250 of about 1,997,971 (386)

Trend in neonatal mortality and preventable neonatal deaths: a time series analysis, Bahia, 2010-2020. [PDF]

Epidemiol Serv Saude
Nery DP, Andrade ACS, Rocha DS, Barbosa MCR, Gomes RDS, Bezerra VM.   +5 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

Prevalence and factors associated with neonatal hypothermia: a cross-sectional study among healthy term neonates in a peri-urban hospital in Northern Uganda. [PDF]

BMC Pediatr
Akao MG, Nalwadda G, Epuitai J, Ayebare E, Ndeezi G, Ratib D, Tumwine JK.   +6 more
europepmc   +1 more source

Unilateral development of ovarian tumour in thymectomized Swiss mice following a single injection of 7,12-dimethylbenz(a)anthracene at neonatal stage [PDF]

, 1968
Hayase Shisa, Yasuaki Nishizuka
openalex   +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

Neonatal resuscitation knowledge and its determinants among healthcare professionals at Asella referral and teaching hospital, Southeast Ethiopia. [PDF]

BMC Pediatr
Wubishet M, Assefa T, G/Meskel T, Zelalem H, Shimelis B.   +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

Integrating Indigenous Maya practices and digital health tools to improve outcomes for Indigenous newborns in Guatemala: a community-based initiative. [PDF]

Glob Health Action
Venzor Strader A, Castro Aragón E, Coyote E, Aguilar Ferro AI, Rohloff P.   +4 more
europepmc   +1 more source

Disseminated fibrin thromboembolism among neonates dying within 48 hours of birth.

, 1967
J. F. Boyd
openalex   +1 more source

Human neonatal EEG: Frequency analysis of awake and asleep samples from four areas [PDF]

, 1964
Alexander K. Bartoshuk
openalex   +1 more source