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Complementarity of biomarker screening and genetic analyses based on the case of an attenuated multiple sulfatase deficiency.
J Appl Genet
January 2025
Department of Pediatrics, Nutrition and Metabolic Diseases, The Children's Memorial Health Institute, Warsaw, Poland.
Multiple sulfatase deficiency (MSD) is an ultra-rare lysosomal disease caused by defective activation of cellular sulfatases comprising clinical features of mucopolysaccharidoses, sphingolipidoses, and other sulfatase deficiencies. We present a case of an infant with feeding difficulties related to autism spectrum disorder (ASD) who was diagnosed at 10 months of age with MSD by next-generation sequencing (NGS). Biochemical results obtained in dried blood spot (DBS) samples were inconsistent and not suggesting MSD in the light of identified pathogenic SUMF1 variants.
View Article and Find Full Text PDFClinical and ultrasound assessment of body composition in preterm infants at discharge: an observational study.
BMJ Paediatr Open
January 2025
Institut de Recerca Sant Joan de Déu, Barcelona, Catalunya, Spain.
Objectives: While the target of growth of very preterm infants (VPIs) during Neonatal Intensive care unit (NICU) admission is still controversial, the most accepted objective is that they should follow their intrauterine trajectory in terms of growth and body composition (BC). BC is difficult to measure in clinical daily routine but proxies like body ratios and skinfolds have been used. Prenatal and postnatal factors can influence the growth and BC of VPIs in the NICU.
View Article and Find Full Text PDFEvaluation of Swallowing Dysfunction With Flexible Endoscopic Evaluation of Swallowing in the Neonatal Unit.
Am J Speech Lang Pathol
January 2025
Division of Neonatology, Department of Child Health, Phoenix Children's Hospital, Phoenix Campus, The University of Arizona.
Background: Preterm and low-birth-weight infants often experience discoordination of the suck-swallow-breathe pattern, leading to dysrhythmic feeding, inefficient feeding skills, and swallowing dysfunction, increasing the risk of aspiration and respiratory morbidity. While videofluoroscopic swallowing study is commonly utilized to assess swallow function in neonates, flexible endoscopic evaluation of swallowing (FEES) has been an emerging modality and has been utilized routinely at our institution since 2018.
Method: A single-center, retrospective study including 90 infants admitted to the neonatal unit between 2018-2023 who underwent FEES procedure.
Effect of Group Antenatal Care on Breastfeeding Knowledge and Practices Among Pregnant Women in Ghana: Findings from a Cluster-Randomized Controlled Trial.
Int J Environ Res Public Health
November 2024
Department of Health Behavior and Biological Sciences, University of Michigan School of Nursing, 400 North Ingalls, Ann Arbor, MI 48109-2003, USA.
The World Health Organization (WHO) recommends exclusive breastfeeding for the first six months after birth to ensure child health and survival. Antenatal care provides an opportunity to educate pregnant women on optimal breastfeeding practices. A cluster-randomized control trial in Ghana examined the impact of group antenatal care on breastfeeding knowledge and practice.
View Article and Find Full Text PDFObesity Prevalence and Associated Factors in Captive Asian Elephants () in China: A Body Condition Assessment Study.
Animals (Basel)
December 2024
Key Laboratory for Biodiversity Science and Ecological Engineering, Ministry of Education, College of Life Sciences, Beijing Normal University, Beijing 100875, China.
Obesity is a prevalent health issue among captive wildlife, but the obesity status of captive Asian elephants () in China has not been systematically investigated. This study assessed obesity in 204 captive Asian elephants across 43 facilities by recording seven potentially relevant variables: sex, age, daily feed supply, proportion of high-calorie feed, outdoor enclosure area, outdoor time, and foot disorders. Body condition was evaluated using visual scoring, revealing a high prevalence of overweight and obesity, particularly in zoo-kept elephants.
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