Results 271 to 280 of about 432,494 (360)

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

Enhancement of 7,12-dimethylbenz(a)anthracene leukaemogenesis in mice by neonatal injection of cortisone acetate

, 1968
Yasuaki Nishizuka, Hayase Shisa
openalex   +1 more source

Prevalence of Neonatal Hypothermia and Associated Risk Factors at a Referral Hospital in Northern Province, Rwanda. [PDF]

Rwanda J Med Health Sci
Mugambinumwe D, Nshimiyimana B, Muteteli C, Meharry P.   +3 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

NEONATAL AFNOEIC OXYGENATION

, 1966
D.H.S. Reid, M.E. TUNSTALL, Ross G. Mitchell   +2 more
openalex   +1 more source

Bilateral anophthalmia in a neonate: a syndromic presentation with multisystem anomalies and diagnostic challenges. [PDF]

Oxf Med Case Reports
Hallak M, Emran B, Milhem F, Badran A, Mallak A, Hajjeh O, Nabresi N.   +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

A Case Report on an Intricate Forensic Dilemma: Precipitate Labor or Neonaticide? [PDF]

Cureus
Das S, Tripura U, Singh G, Nagrale NV.
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

Successful Treatment of Persistent Pneumothorax in a Very Preterm Neonate Using Autologous Blood Patch Pleurodesis: A Case Report From Western Odisha. [PDF]

Cureus
Sutnga B, Pradhan B, Khan FNA, Panda KL.
europepmc   +1 more source