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Precision therapy for Developmental delay, Epilepsy and Neonatal Diabetes syndrome in the era of genomics.
Med J Armed Forces India
December 2024
Director & Commandant, Armed Forces Medical College, Pune, India.
Neonatal diabetes mellitus is a rare disorder with prevalence of one in 400,000 live births that's defined by persistent hyperglycaemia within the first six months of life. Neonatal diabetes is heterogeneous and can be transient or permanent. Developmental delay, Epilepsy and Neonatal Diabetes (DEND) syndrome is characterised by developmental delay, epilepsy, and neonatal diabetes.
View Article and Find Full Text PDFMulticultural doula support and obstetric and neonatal outcomes: a multi-centre comparative study in Norway.
BMC Pregnancy Childbirth
December 2024
The Research Center for Women's, Family and Child Health, Faculty of Health and Social Sciences, University of South-Eastern Norway, Kongsberg, Buskerud, Norway.
Background: Migrant women face an increased risk of poor obstetric and neonatal outcomes. Norway implemented a multicultural doula (MCD) program in 2018, which was designed to improve pregnancy care for this group in vulnerable circumstances. This study aimed to assess the impact of MCD support, provided in addition to standard care, on obstetric and neonatal outcomes for selected newly arrived migrants.
View Article and Find Full Text PDFPermanent Neonatal Diabetes with High Insulin Requirements Due to a New Variant in the Gene.
J Clin Res Pediatr Endocrinol
December 2024
Fundación Hospital Infantil los Ángeles, Pasto, Colombia.
Neonatal diabetes is an infrequent disorder that may present as transient, permanent, or syndromic. It is most commonly caused by pathogenic variants involving the ABCC8, KCNJ11, and INS genes. To describe a neonate with permanent diabetes mellitus due to a previously unreported variant in the INS gene, outlining the diagnostic complexities, therapeutic interventions, and related clinical challenges.
View Article and Find Full Text PDFDeep sedation in lateral position for preterm infants during cerebral magnetic resonance imaging: a pilot study.
J Anesth Analg Crit Care
December 2024
Department of Anesthesia and Intensive Care, Fondazione Policlinico Universitario A. Gemelli IRCCS, Università Cattolica del Sacro Cuore, Rome, Italy.
Introduction: Respiratory adverse events are common during the sedation of preterm babies, often needing active airway support. During magnetic resonance imaging, this occurrence could extend the acquisition time, with a negative impact on the thermic and metabolic homeostasis. The aim of the study is to verify if lying in a lateral position instead of supine could improve the safe quality of sedation, without worsening the quality of imaging.
View Article and Find Full Text PDFParvovirus B19 infection in children: a comprehensive review of clinical manifestations and management.
Ital J Pediatr
December 2024
Department of Pediatrics, Santa Maria delle Croci Hospital, AUSL della Romagna, Viale Vincenzo Randi, 5, Ravenna, Ravenna, 48121, RA, Italy.
Parvovirus B19 (B19V) is a significant pathogen responsible for a wide range of clinical manifestations, particularly in children and pregnant women. While B19V is most commonly recognized as the cause of Fifth disease, a mild erythematous illness in children, its clinical impact extends far beyond this condition. B19V can lead to severe complications, including transient aplastic crisis in individuals with chronic hemolytic anemias, arthralgia, and more severe joint diseases.
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