Study findings support the use of aflibercept injection for extremely low birthweight and preterm children with severe acute-phase retinopathy of prematurity.
Early detection of spinal muscular atrophy by newborn screening allows prompt treatment and leads to better functional outcomes than diagnosis after clinical symptoms have developed.
Optimal early nutrition has a lifelong positive impact on child development. But specific intrauterine and perinatal factors, pathological conditions, and dietary restrictions can contribute to micronutrient deficiencies. Which children are at risk and need supplementation?
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Amniocentesis is not routine for isolated polyhydramnios in the absence of key structural defects. But these two cases show that polyhydramnios can be caused by rare genetic conditions that benefit from early diagnosis and intervention.
When newborns present with clinical signs such as rash, distal extremity desquamation, and cervical lymph adenitis, and simultaneous increases in peripheral blood leukocyte count and platelets, clinicians should be highly alert to KD even without fever.
Acalvaria is a rare and usually fatal congenital malformation, characterized by the absence of bones and related muscles in a section of the skull. In this case, acalvaria could not be detected on prenatal ultrasound.
Sudden infant death syndrome (SIDS) is a sudden, unexpected death of a healthy infant under the age of one with no specific cause of death identified by autopsy or other means [ 1 ]. Previously, before 1990, deaths from unknown causes in infants …
Gestational diabetes mellitus (GDM) can lead to serious complication during pregnancy both for the pregnant person and the developing offspring. Intensive lifestyle intervention, including diet and exercise, is effective in managing this disorder …
Neonatal hypoglycemia is a major source of concern for pediatricians since it has commonly been related to poor neurodevelopmental outcomes. Diagnosis is challenging, considering the different operational thresholds provided by each guideline.
Inborn errors of metabolism (IEMs) are a group of inherited disorders caused by variants in genes coding for proteins that function in metabolism. As part of the newborn screening (NBS) programs, more than 40 IEMs can be screened by tandem mass …
Neonatal acute liver failure (NALF), as a rare disease with high mortality, has limited relevant literature reports in China. We attempted to analyze a NALF cohort to improve the prognosis of this disease. We included all patients diagnosed with …
Neonatal screening for SMA has allowed the identification of infants who may present with early clinical signs. Our aim was to establish whether the presence and the severity of early clinical signs have an effect on the development of motor …
Nutritional intake could influence the blood glucose profile during early life of preterm infants. We investigated the impact of macronutrient intake on glycemic homeostasis using continuous glucose monitoring (CGM). We analyzed macronutrient …
Congenital hypothyroidism (CH) is the most common endocrine disorder in children. Newborn blood screening (NBS) programs have improved neurodevelopmental outcomes with earlier diagnosis and treatment of CH. In iodine-replete populations, primary …