RISEinFAMILY project: the integration of families at neonatal intensive care units (NICUs) to empower them as primary caregivers: study protocol for a stepped wedge cluster controlled trial.

BACKGROUND: Family Integrated Care (FICare) has demonstrated positive outcomes for sick neonates and has alleviated the psychological burden faced by families. FICare involves structured training for professionals and caregivers along with the provision of resources to offer physical and psychological support to parents. However, FICare implementation has been primarily limited to developed countries. It remains crucial to assess the scalability of this model in overcoming social-cultural barriers and conduct a cost-effectiveness analysis. The RISEinFAMILY project aims to develop an adapted FICare model that can serve as the international standard for neonatal care, accommodating various cultural, architectural, and socio-economic contexts. METHODS: RISEinFAMILY is a pluri-cultural, stepped wedge cluster controlled trial conducted in Spain, Netherlands, the UK, Romania, Turkey, and Zambia. Eligible participants include infant-family dyads admitted to the Neonatal Intensive Care Unit (NICU) requiring specialised neonatal care for a minimum expected duration of 7 days, provided there are no comprehension barriers. Notably, this study will incorporate a value of implementation analysis on FICare, which can inform policy decisions regarding investment in implementation activities, even in situations with diverse data. DISCUSSION: This study aims to evaluate the scalability and adaptation of FICare across a broader range of geographical and sociocultural contexts and address its sustainability. Furthermore, it seeks to compare the RISEinFAMILY model with standard care, examining differences in short-term newborn outcomes, family mental health, and professional satisfaction. TRIAL REGISTRATION: ClinicalTrials.gov NCT06087666. Registered on 17 October 2023. PROTOCOL VERSION: 19 December 2022; version 2.2.

High incidence of hypermethioninaemia in a single neonatal intensive care unit detected by a newly introduced neonatal screening programme.

From 1 January 2007 an expanded neonatal screening programme was initiated in the Netherlands, including homocystinuria with methionine as the primary marker. During the first 2 months hypermethioninaemia was detected in 14 newborns who, after proper evaluation, were demonstrated not to have classical homocystinuria. Remarkably, all these children were admitted to a single neonatal intensive care unit (Academic Medical Center, Amsterdam (AMC-NICU)). We evaluated the possible causes for this finding. The cohort of newborns with hypermethioninaemia (group 1) was compared with the cohort of newborns with normal screening results admitted to the AMC-NICU in the same time period (group 2). In addition, parenteral nutrition protocols from all NICUs in the Netherlands were compared. Mean birth weight and gestational age were significantly lower in group 1 than in group 2. All patients in group 1 received parenteral feeding (TPN) at the time of screening and received a higher mean amino acid intake per kilogram body weight than patients receiving TPN in group 2. Also, the AMC-NICU uses a different amino acid mixture for TPN than the other Dutch NICUs, containing more than twice the amount of methionine per gram of amino acids compared with other mixtures. The high incidence of hypermethioninaemia in the AMC-NICU is explained by a combination of low birth weight, low gestational age, and high protein intake supplied by a specific parenteral amino acid mixture containing large amounts of methionine. To prevent hypermethioninaemia, the use of high-methionine containing solutions for TPN should be reconsidered.

Heminasal aplasia: a case report and review of the literature of the last 25 years.

We report a child with right-sided heminasal aplasia in combination with anomalies of the right eye and maxilla. Unilateral aplasia of the nose is a rare congenital malformation. It is often associated with other malformations of the facial region, including abnormalities of the eye and lacrimal system, proboscis lateralis, and facial bone malformations. The eye anomalies in our patient consisted of microphthalmia with blepharophimosis and coloboma of the iris, retina and upper eyelid. Also hypoplasia of the lacrimal apparatus and right maxilla, and a rudimentary alveolar cleft on the same side were present. The embryological development of the midface can explain this association of anomalies.

[Qualitative malnutrition due to incorrect complementary feeding in Bush Negro children in Suriname]. / Kwalitatieve ondervoeding door onjuiste bijvoeding bij boslandcreoolse kinderen in Suriname.

OBJECTIVE: To determine whether the increase in the percentage of stunted growth in Bush Negro infants in the interior of Surinam is related to an absolute food (i.e. energy) shortage or to a shortage of protein. DESIGN: Descriptive. METHOD: In the villages of Dan and Botopasi, children aged 2-5 years from two schools and their mothers were examined. Growth during the first year of life, duration of breastfeeding, age of introduction of and composition of complementary feeding and current nutritional status of mother and child were determined. RESULTS: Sixteen children and their mothers were included. Compared to the Dutch growth charts, birth weight was significantly lower (p = 0.03). After the age of 6 months there was a significant dropping off in weight gain (p = 0.018). Five of the 16 children received protein-poor complementary feeding, which did not lead to catch-up growth. Between the ages of 2-5, 6 of the 16 children showed stunted growth but none of the children or their mothers was wasted. Five of the 16 mothers had a body mass index > 25. CONCLUSION: The nutritional status of the mothers showed that there was no absolute shortage of energy. The protein content coming from the complementary food for the Bush Negroes in our research group was below recommended levels. Stunted growth in these children is better explained by a shortage of well-balanced complementary feeding rather than by an absolute shortage of energy. Education about food recommendations for the young child is of great importance in the prevention of chronic malnutrition.

[Intraosseous infusions in children]. / Intraossale infusie bij kinderen.

Tibial intraosseous infusions can be invaluable in the management of the pediatric patient who is in cardiac arrest or severe shock when vascular access by the intravenous route is unattainable. Recently there has been renewed interest in this procedure. There is a small risk of complications.

Congenital disorder of glycosylation type Ia: a clinicopathological report of a newborn infant with cerebellar pathology.

Congenital disorders of glycosylation (CDG) represent a newly delineated group of inherited multisystem disorders characterized by defective glycoprotein biosynthesis. In the present study we report and discuss the clinical and neuropathological findings in a newborn with CDG type Ia (CDG-Ia). The patient presented mild dysmorphic facial features, inverted nipples, progressive generalized edema, hypertrophic cardiomyopathy, hepatosplenomegaly, muscular hypotonia and had severe hypoalbuminemia. Deficiency of phosphomannomutase (PMM)-2 activity was detected. Molecular analysis showed V231M/T237R mutations of the PMM2 gene. Muscular biopsy, disclosed myopathic alterations with myofibrillar disarray by electron microscopy. The patient died at 1 month of age of circulatory and respiratory failure. Autopsy showed liver fibrosis and renal abnormalities. Neuropathological abnormalities were mainly confined to the cerebellum. Histological and immunocytochemical examination of cerebellar tissue showed partial atrophy of cerebellar folia with severe loss of Purkinje cells, granular cell depletion and various morphological changes in the remaining Purkinje cells and their dendritic arborization. Autopsy findings confirm the complexity of the CDG-Ia syndrome, and indicate that CDG-Ia is a distinct disease entity, which can be differentiated from other neurological disorders and other types of CDG, not only clinically, but also based on unique pathological findings. The data proved useful in determining the underlying disease process associated with a defective N-glycosylation pathway.

Apple juice malabsorption: fructose or sorbitol?

Carbohydrate malabsorption after apple juice ingestion may produce abdominal symptoms and diarrhea, especially in children. The carbohydrates suggested to play roles in this process are fructose, as it is present in excess of glucose, and sorbitol. Absorption of the carbohydrates in apple juice was investigated in 17 children and 12 adults by means of the hydrogen breath test. Apple juice was given at a dose of 15 ml/kg body weight, with a maximum of 375 ml. Fructose (0.6 g/kg) and sorbitol (0.06 g/kg), alone and in combination, were administered in amounts similar to their contents in apple juice (fructose as excess over glucose content). Apple juice malabsorption, as judged by a peak breath H2 excretion of > or = 20 ppm, was found in 11 children (65%) and 4 adults (33%). Of those malabsorbing apple juice, 7 of 11 children malabsorbed fructose, 1 of 11 sorbitol, and 4 of 11 the combination; the four adults absorbed all test solutions completely. We could not find an additive effect of sorbitol on breath H2 excretion after fructose ingestion. Peak breath H2 concentrations after apple juice ingestion (mean +/- SEM: 43 +/- 7 ppm) were higher than those with fructose (23 +/- 5 ppm; p < 0.05) or the fructose-sorbitol combination (20 +/- 5 ppm; p < 0.05). Fructose, and not sorbitol, is the sugar responsible for the increase in breath H2 after apple juice consumption and therefore for the diarrhea accompanying excessive apple juice consumption in toddlers.

Fructose breath hydrogen tests.

Fructose absorption was studied by the breath hydrogen test in 114 healthy children aged 0.1-6 years, given either 2 g/kg or 1 g/kg of fructose. All 57 children given 2 g/kg had peak breath hydrogen excretions > or = 20 ppm. At 1 g/kg only 25/57 (44%) showed incomplete absorption and the percentage incompletely absorbing fructose and the peak breath hydrogen value were significantly higher in children aged 1-3 years. Interestingly, this age distribution correlates with that of toddler diarrhoea.