Congenital heart disease (CHD) is the most common neonatal congenital malformation. The variety and severity of clinical presentation depend on the cardiac structures involved and their functional impact. The management of newborns with CHD requires a multidisciplinary approach, in which the nutritional aspect plays an important role. An adequate caloric intake during either preand post-surgical period, in fact, improves the outcome of these patients. In addition, the failure to thrive of these children in childhood has been related to long-term cognitive delay (attention deficit disorders, aggressive behaviour and poor social and emotional development). To date, there is a lack of standardized feeding protocols and caloric goals about how to feed neonates with CHD, and current practice varies widely between centres. The latest American Society for Parenteral and Enteral Nutrition guidelines reiterate the importance of proteins, and recommend early start of enteral nutrition, also in the most severe heart diseases, such as univentricular forms. Necrotizing enterocolitis (NEC), the most frequent and feared complication of early feeding of these newborns, often represents an obstacle in spreading this practice. Furthermore, as demonstrated in premature infants, breastfeeding seems to reduce the incidence of NEC. That is why breastfeeding must be encouraged, even if it can be difficult for these mothers due to delivery complications, associated with infant disease. In addition, eating difficulties may persist even after discharge, because these patients require nutritional support through nasogastric tubes or percutaneous endoscopic gastrostomies.
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http://dx.doi.org/10.4081/pmc.2018.196 | DOI Listing |
Clin Exp Pediatr
December 2024
Department of Pediatrics and Neonatology, Hospital Privado Universitario de Córdoba., Córdoba., Argentina.
Very preterm infants (VPIs) often experience extrauterine growth failure. Therefore, aggressive nutritional management of VPIs is recommended with the goal of achieving the postnatal growth of an equivalent fetus. However, VPIs frequently present postnatal length growth restriction at term-corrected age that remains lower than the standard weight and have greater fat mass and lower lean and bone mass than term-born infants.
View Article and Find Full Text PDFEur J Pediatr
December 2024
Department of Medical Genetics, Dr. Behçet Uz Children's Hospital, Izmir, Turkey.
Unlabelled: The RASopathies are a group of disorders resulting from a germline variant in the genes encoding the Ras/mitogen-activated protein kinase pathway. These disorders include Noonan syndrome (NS), cardiofaciocutaneous syndrome (CFC), Costello syndrome (CS), Legius syndrome (LS), and neurofibromatosis type 1 (NF1), and have overlapping clinical features due to RAS/MAPK dysfunction. In this study, we aimed to describe the clinical and molecular features of patients exhibiting phenotypic manifestations consistent with RASopathies.
View Article and Find Full Text PDFLab Med
December 2024
Department of Pediatrics, AIIMS Patna, Patna, Bihar, India.
Objective: Aldosterone synthase deficiency (ASD) is a rare autosomal recessive inherited disease with an overall clinical phenotype of failure to thrive, vomiting, severe dehydration, hyperkalemia, and hyponatremia. Mutations in the CYP11B2 gene encoding AS are responsible for the occurrence of ASD. Defects in CYP11B2 gene have only been reported in a limited number of cases worldwide.
View Article and Find Full Text PDFBMC Pediatr
December 2024
Department of Pediatric and Neonatal Intensive Care, University Children's Hospital, Belgrade, 11000, Serbia.
Background: Familial chylomicronemia syndrome (FCS) is a rare genetic disorder with heterogeneous presentation, where acute encephalopathy is rarely described in literature. Therefore, initial neurologic symptoms could make the diagnosis and treatment challenging.
Case Presentation: A four-month-old male infant presented with acute encephalopathy, vomiting, bulging fontanel, decreased appetite and failure to thrive.
BMJ Case Rep
December 2024
McMaster Children's Hospital/ Hamilton Health Sciences, Hamilton, Ontario, Canada.
This case report describes the clinical journey of a male patient in early childhood with developmental delay, failure to thrive, worsening right-sided head tilt torticollis and regression of motor skills with spasticity of the lower limbs. The case was complex due to the early onset and gradually worsening symptoms, including a decline in established motor milestones. Genetic testing to investigate the delayed neurodevelopment revealed a variant that did not fully explain the patient's phenotype.
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