Congenital hyperinsulinism.

This clinical review will give doctors who work with children and neonates an introduction to the diagnosis and treatment of congenital hyperinsulinism, the most common cause of persistent neonatal hypoglycaemia. The condition is a rare monogenic disorder characterised by elevated insulin secretion and is a result of mutations in genes that regulate insulin secretion from pancreatic beta cells. The anabolic effect of insulin induces systemic glucose uptake and inhibits gluconeogenesis, glycogenolysis, ketogenesis and lipolysis.

Early surfactant and non-invasive ventilation versus intubation and surfactant: a propensity score-matched national study.

Objective: To compare outcome after less invasive surfactant administration (LISA) and primary endotracheal intubation (non-LISA) in infants born before gestational age (GA) 28 weeks.

Setting: All neonatal intensive care units (NICUs) in Norway during 2012-2018.

Methods: Defined population-based data were prospectively entered into a national registry.

Extremely Preterm Infant Admissions Within the SafeBoosC-III Consortium During the COVID-19 Lockdown.

To evaluate if the number of admitted extremely preterm (EP) infants (born before 28 weeks of gestational age) differed in the neonatal intensive care units (NICUs) of the SafeBoosC-III consortium during the global lockdown when compared to the corresponding time period in 2019. This is a retrospective, observational study. Forty-six out of 79 NICUs (58%) from 17 countries participated.

Janus-faced EPHB4-associated disorders: novel pathogenic variants and unreported intrafamilial overlapping phenotypes.

Purpose: Several clinical phenotypes including fetal hydrops, central conducting lymphatic anomaly or capillary malformations with arteriovenous malformations 2 (CM-AVM2) have been associated with EPHB4 (Ephrin type B receptor 4) variants, demanding new approaches for deciphering pathogenesis of novel variants of uncertain significance (VUS) identified in EPHB4, and for the identification of differentiated disease mechanisms at the molecular level.

Methods: Ten index cases with various phenotypes, either fetal hydrops, CM-AVM2, or peripheral lower limb lymphedema, whose distinct clinical phenotypes are described in detail in this study, presented with a variant in EPHB4. In vitro functional studies were performed to confirm pathogenicity.

Yellow skin without jaundice.

In cases of infants with yellow colouration, both the sclerae and the skin should be examined. The top priority is to rule out conjugated hyperbilirubinaemia, which may be a symptom of biliary atresia. Children with this condition will first develop yellow sclerae, and will have jaundice that continues beyond the first two weeks of life.

Serum concentrations of C-reactive protein in healthy term-born Norwegian infants 48-72 hours after birth.

Aim: To determine serum C-reactive protein (CRP) concentrations in healthy term-born infants shortly after birth.

Methods: We sampled blood from 182 infants along with the routine neonatal screening programme at 48-72 hours of age from consecutively recruited healthy infants without signs of infection and a gestational age (GA) of at least 37 weeks. The blood was stored at minus 20°C until analysis in one assay after the end of the study.

Normal Neurological Development During Infancy Despite Massive Hyperammonemia in Early Treated NAGS Deficiency.

A girl born at term was admitted to the neonatal intensive care unit because of mild respiratory distress after a complicated delivery. She recovered, but was readmitted at 58 h of life with mild respiratory distress and increased muscle tone. Neonatal abstinence syndrome because of maternal use of lithium, clomipramine, and quetiapine during pregnancy was suspected, but at 115 h of life she became unresponsive, and an immediate work-up for coma was initiated.

De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development.

Bosma arhinia microphthalmia syndrome (BAMS) is an extremely rare and striking condition characterized by complete absence of the nose with or without ocular defects. We report here that missense mutations in the epigenetic regulator SMCHD1 mapping to the extended ATPase domain of the encoded protein cause BAMS in all 14 cases studied. All mutations were de novo where parental DNA was available.

Selective ultrasound screening for developmental hip dysplasia: effect on management and late detected cases. A prospective survey during 1991-2006.

Background: Early treatment is considered essential for developmental dysplasia of the hip (DDH), but the choice of screening strategy is debated.

Objective: We evaluated the effect of a selective ultrasound (US) screening programme.

Materials And Methods: All infants born in a defined region during 1991-2006 with increased risk of developmental dysplasia of the hip, i.

Immediate treatment versus sonographic surveillance for mild hip dysplasia in newborns.

Objective: We conducted a blinded, randomized, controlled trial to examine whether mildly dysplastic but stable or instable hips would benefit from early treatment, as compared with watchful waiting.

Patients And Methods: A total of 128 newborns with mild hip dysplasia (sonographic inclination angle [alpha angle] of 43 degrees -49 degrees ) and stable or instable but not dislocatable hips were randomly assigned to receive either 6 weeks of abduction treatment (immediate-treatment group) or follow-up alone (active-sonographic-surveillance group). The main outcome measurement was the acetabular inclination angle, measured by radiograph, at 1 year of age.

[A 6-day-old girl with weight loss].

Newborn children normally lose up to 10% of their birth weight during the first week of life. With greater weight loss one must consider low intake and pathological losses. We describe a 6-day-old girl with nearly 19% weight loss and hypertonic dehydration caused by hypogalactia.

[Substitution treatment of drug addicts during pregnancy: consequences for the children?].

Background: Substitution treatment of opioid-dependent addicts was introduced in Norway in 1998. During the last 10 years, approximately 150 infants have been born to mothers taking part in this programme.

Material And Methods: 10 mothers, who took part in the substitution treatment programme, gave birth to 15 infants at Haukeland University Hospital in the period 1999-2005.

Early death, morbidity, and need of treatment among extremely premature infants.

Objective: To determine outcomes, in terms of perinatal and early death, need for treatment, and morbidity at the time of discharge home, among extremely preterm infants.

Design: A prospective observational study of all infants with a gestational age (GA) of 22 to 27 completed weeks or a birth weight of 500 to 999 g who were born in Norway in 1999 and 2000.

Results: Of 636 births, 174 infants (27%) were stillborn or died in the delivery room, 86 (14%) died in the NICU, and 376 (59%) were discharged from the hospital.

[Fetal injury and alcohol drinking during pregnancy].

Background: There is still an ongoing discussion whether moderate alcohol consumption during pregnancy is harmful to the fetus. In most western countries, however, total abstinence is recommended.

Material And Methods: Over the last five years we have seen 64 infants and children with alcohol-related disorders.

Septicemia in the first week of life in a Norwegian national cohort of extremely premature infants.

Objectives: To investigate the incidence, causes, predictors, and outcomes of septicemia in the first week of life in a national cohort of extremely premature infants.

Methods: A prospective study of survival of all infants with gestational age of <28 weeks or birth weight of <1000 g who were born in Norway in 1999-2000 was performed. Data on the maternal prenatal history, delivery, and neonatal course, including detailed information on episodes of microbiologically verified septicemia, were collected on predefined forms.

Late-onset septicemia in a Norwegian national cohort of extremely premature infants receiving very early full human milk feeding.

Objectives: To investigate the occurrence of and risk factors for late-onset septicemia (LOS) in a national cohort of extremely premature infants who received very early full human milk feeding.

Methods: A prospective study of all infants born in Norway in 1999 and 2000 with gestational age of <28 weeks or birth weight of <1000 g was performed. Extensive clinical information, including data on feeding practices and episodes of septicemia, was collected on predefined forms.