The transport of sick neonates to the surgical centers or transportation within the center is an essential requirement of neonatal surgery. Neonatal transport incubators are costly, space occupying, and are not available at many places in the developing countries. We report here a cheap yet effective and easy to make, alternate neonatal carrier device.
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http://dx.doi.org/10.4103/0971-9261.72436 | DOI Listing |
Pediatr Rheumatol Online J
December 2024
Translational Genetics Research Group, La Fe Health Research Institute (IIS La Fe), Avenida Fernando Abril Martorell nº 106 Tower A, 7th Floor, Valencia, Spain.
Background: Aicardi-Goutières Syndrome is a monogenic type 1 interferonopathy with infantile onset, characterized by a variable degree of neurological damage. Approximately 7% of Aicardi-Goutières Syndrome cases are caused by pathogenic variants in the ADAR gene and are classified as Aicardi-Goutières Syndrome type 6. Here, we present a new homozygous pathogenic variant in the ADAR gene.
View Article and Find Full Text PDFInt J Neonatal Screen
December 2024
Laboratory of Genomic, Epigenetics, Precision and Predictive Medicine, School of Medicine, Mohammed VI University of Sciences and Health, Casablanca 82403, Morocco.
Unlabelled: Newborn screening (NBS) represents an important public health measure for the early detection of specified disorders; such screening can prevent disability and death, not only from metabolic disorders but also from endocrine, hematologic, immune, and cardiac disorders. Screening for critical congenital conditions affecting newborns' health is a great challenge, especially in developing countries such as Morocco, where NBS program infrastructure is lacking. In addition, the consanguinity rate is high in Morocco.
View Article and Find Full Text PDFTicks Tick Borne Dis
December 2024
INRAE, Oniris, BIOEPAR, Nantes 44300, France.
Equine piroplasmosis is a tick-borne disease mainly caused by Theileria equi and Babesia caballi. The objectives of this study were to analyse the frequency and routes of vertical transmission of these blood parasites from 179 asymptomatic mares to their foals. Foals were sampled within 72 h post-partum.
View Article and Find Full Text PDFJ Clin Res Pediatr Endocrinol
December 2024
Department of Pediatric Endocrinology, Ankara University Faculty of Medicine, Ankara, Turkiye.
Congenital adrenal hyperplasia (CAH) is an autosomal recessive disease caused by the deficiency of one of the enzymes involved in cortisol synthesis. Between 90% and 99% of cases of CAH are caused by 21-hydroxylase deficiency (21OHD) caused by mutations in CYP21A2. Although 21OHD has been historically divided into classical and non-classical forms, it is now thought to show a continuous phenotype.
View Article and Find Full Text PDFDev Med Child Neurol
December 2024
Department of Neurology and Neurological Sciences, Stanford University, CA, USA.
Aim: To describe the neurodevelopment and quality of life in SLC13A5 (solute carrier family 13 member 5) citrate transporter disorder (developmental and epileptic encephalopathy 25, DEE25), a rare genetic early infantile epileptic encephalopathy caused by deficiency of a sodium-citrate transporter, characterized by heavy seizure burden in the neonatal period.
Method: We analyzed longitudinal neurodevelopmental outcomes from a prospective natural history study of DEE25, using standardized assessments of Mullen Scales of Early Learning, Peabody Developmental Motor Scales, and Vineland Adaptive Behavior Scales.
Results: There was significant global impairment across the cohort, with variable quality of life and limited genotype-phenotype correlation.
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