From a systematic neonatal screening for cystic fibrosis in the Basse-Normandie area and to prevent disorders of the intestinal transit related to malabsorption, neonates then infants were given a semi-elemental hypercaloric diet, with supplements in nitrogen, MCT, minerals, vitamins and low in LCT. Diets were adjusted every month during a consultation using clinical and biological parameters. Results in the first 14 children showed that clinically as well as biologically, these children may remain within the normal range, avoiding the previously reported growth retardation and mineral or vitamin deficiencies. This procedure should allow an improvement in the quality of life and prognosis of such children, by maintaining adequate nutritional status.
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Hum Brain Mapp
January 2025
Center for MR Research, University Children's Hospital Zurich, Zurich, Switzerland.
The human brain connectome is characterized by the duality of highly modular structure and efficient integration, supporting information processing. Newborns with congenital heart disease (CHD), prematurity, or spina bifida aperta (SBA) constitute a population at risk for altered brain development and developmental delay (DD). We hypothesize that, independent of etiology, alterations of connectomic organization reflect neural circuitry impairments in cognitive DD.
View Article and Find Full Text PDFCureus
December 2024
Department of Pediatrics, Division of Neonatology, Blythedale Children's Hospital, Valhalla, USA.
Retroperitoneal teratomas are rare neoplasms in neonates, presenting with nonspecific symptoms and variable clinical features, making diagnosis challenging. Radiological investigations, particularly fetal ultrasound and contrast-enhanced computed tomography, play a critical role in their detection. Differential diagnoses include neuroblastoma, adrenal hemorrhage, and congenital cystic lesions, which share overlapping clinical and imaging features.
View Article and Find Full Text PDFCureus
December 2024
Pediatrics/Neonatology, University of Arkansas for Medical Sciences, Little Rock, USA.
A lipoblastoma is a benign tumor of adipocytes originating from embryonic white fat and occurs in the pediatric population. Congenital lipoblastomas, however, are rare, and the incidence of these tumors in neonates is unknown. Due to their rare presentation, congenital oral lipoblastomas can, firstly, pose diagnostic challenges for the pediatrician and must be differentiated from the more commonly seen oral lesions in the newborn and other rare malignant growths.
View Article and Find Full Text PDFJIMD Rep
January 2025
The Morris Kahn Laboratory of Human Genetics, Faculty of Health Sciences Ben Gurion University Beer-Sheva Israel.
The tightly-regulated spatial and temporal distribution of zinc ion concentrations within cellular compartments is controlled by two groups of Zn transporters: the 14-member ZIP/SLC39 family, facilitating Zn influx into the cytoplasm from the extracellular space or intracellular organelles; and the 10-member ZnT/SLC30 family, mobilizing Zn in the opposite direction. Genetic aberrations in most zinc transporters cause human syndromes. Notably, previous studies demonstrated osteopenia and male-specific cardiac death in mice lacking the ZnT5/ zinc transporter, and suggested association of two homozygous frameshift variants with perinatal mortality in humans, due to hydrops fetalis and hypertrophic cardiomyopathy.
View Article and Find Full Text PDFAnn Thorac Surg Short Rep
December 2024
Department of Pediatric Cardiothoracic Surgery, Children's Hospital of New Orleans, New Orleans, Louisiana.
An infant with DiGeorge syndrome, multiple comorbidities, and truncus arteriosus type II underwent repair complicated by heart block necessitating placement of a dual-chamber bipolar pacing system with right ventricular leads and subsequent resynchronization with placement of left ventricular apical pacing leads. Resynchronization therapy improved QRS duration from 180 ms to 100 ms and ejection fraction from 25% to 54% over the course of 4 weeks with gradual return to normal function and eventual discharge.
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