To diet or not to diet in neonatal diabetes responding to sulfonylurea treatment.

Background Neonatal diabetes mellitus (NDM) is defined as a monogenic form of diabetes that occurs in the first 6 months of life. As information on diet in NDM patients successfully treated with sulfonylurea is not yet available, we aimed to investigate the hypothesis that a carb-restricted diet is not needed in such cases. Case presentation In this case report, we present a successful implementation of a completely liberalized diet in a young patient with NDM, developmental delay and epilepsy (DEND syndrome), who was also switched to sulfonylurea treatment. The excellent metabolic control during follow-up despite completely ignoring any diet suggests that at least in some patients this approach might work. Conclusions If our proposed hypothesis is also confirmed by other reports, it might add significantly to the quality of life of these patients and broaden the knowledge in this medical field.

Severe lactic acidosis in an extremely low birth weight infant due to thiamine deficiency.

BACKGROUND: In this case report, we present a preterm newborn with persistent lactic acidosis who received total parenteral nutrition (TPN) that lacked thiamine. CASE PRESENTATION: A 28-week-old, 750 g female infant was born with an Apgar score of 8 at the 5th minute. Umbilical cord blood gas levels, including lactate level, were normal, and she was admitted to our neonatal intensive care unit (NICU). Achieving full enteral feeding was not possible due to gastric residues and abdominal distention, making the patient dependent on TPN during the first 2 weeks of life. An insidious increase in lactic acid levels and uncompensated metabolic acidosis were apparent from the 23rd day of life. Severe metabolic acidosis was persistent despite massive doses of bicarbonate. The acidosis resolved dramatically within 6 h when the patient was administered with thiamine. CONCLUSIONS: Although TPN is life saving in the NICU, meticulous attention must be paid to provide all essential macro- and micro-nutrients.

[Diet treatment of classical galactosemia]. / Klasszikus galactosaemia dietetikai kezelési lehetoségei.

Classical galactosemia is an inherited disorder of the carbohydrate metabolism, most often caused by the deficient activity of the enzyme galactose-1-phosphate-uridyltransferase. Classical galactosemia presents in the neonatal period with life threatening illness after galactose is introduced in the diet. Symptoms and signs include poor feeding, vomiting, and diarrhea, weight loss, jaundice, hypotension, cataracts, hepatosplenomegaly, hepatocellular insufficiency, and encephalopathy. Since 1975 the testing for galactosemia is part of the neonatal screening program in Hungary. Affected newborns are recognized in the first days of their life, and special diet is introduced immediately. The therapy of galactosemia is the lactose-free and galactose-poor diet for life. As a result of the nationwide newborn screening and the lifelong medical therapy, early treatment with galactosemia can achieve a normal life without serious complications. Orv Hetil. 2017; 158(47): 1864-1867.

Using Dextrose (Glucose) Gel to Reverse Neonatal Hypoglycemia.

Hospitals are challenged to implement measures to improve health outcomes, decrease costly interventions, and increase patient satisfaction. By following a nurse-driven protocol, our institution has successfully met these three challenges in our treatment of newborns diagnosed with neonatal hypoglycemia (NH). Based on results of a randomized clinical trial, a multidisciplinary team trialed glucose gel as a standard treatment for NH. During the first year, admission rates to the NICU for NH decreased by 73 percent. Exclusive breastfeeding rates for this population increased to 49 percent and 40 additional families remained together on the mother baby unit. This practice change is improving health outcomes, decreasing expensive interventions, and increasing satisfaction among the population of infants at risk for NH.

[Importance of compliance in nutritional management. Case report]. / A compliance fontossága a táplálásterápiában.

Disease-related malnutrition is usually caused by the joint action of the underlying disease itself and dietary deficiency. The consequences of malnutrition, if left untreated, are serious, causing a marked decline in physical and psychological health and function, and an increased rate of complications and decreased effectiveness of the medical treatments. In case a functional gastrointestinal tract is present, the recommended form of nutritional management is the use of oral nutritional supplements. However, just like to any other therapy, compliance to oral nutritional supplements is highly influenced by the consistency, taste, smell, volume consumed, and side effects. The aim of the present case report is to illustrate that nutritional management is a successful and effective treatment option of disease-related malnutrition when the selection of the oral nutritional supplement takes into consideration patient's preferences as well.

Implementing a Protocol Using Glucose Gel to Treat Neonatal Hypoglycemia.

Neonatal hypoglycemia is a leading cause of admission of neonates to the NICU. Typical treatment for neonatal hypoglycemia includes supplementation with formula or, in some cases, intravenous glucose administration. These treatments, though effective at treating hypoglycemia, interrupt exclusive breastfeeding and interfere with mother-infant bonding. Our institution developed a treatment algorithm for newborns at risk for neonatal hypoglycemia. The new algorithm called for the oral administration of 40% glucose gel. This intervention resulted in a 73% decreasein admission rates to the NICU for hypoglycemia, and it supported exclusive breastfeeding, skin-to-skin contact, and mother-infant bonding.

Toll-like receptor 4-mediated lymphocyte influx induces neonatal necrotizing enterocolitis.

The nature and role of the intestinal leukocytes in necrotizing enterocolitis (NEC), a severe disease affecting premature infants, remain unknown. We now show that the intestine in mouse and human NEC is rich in lymphocytes that are required for NEC development, as recombination activating gene 1­deficient (Rag1­/­) mice were protected from NEC and transfer of intestinal lymphocytes from NEC mice into naive mice induced intestinal inflammation. The intestinal expression of the lipopolysaccharide receptor TLR4, which is higher in the premature compared with full-term human and mouse intestine, is required for lymphocyte influx through TLR4-mediated upregulation of CCR9/CCL25 signaling. TLR4 also mediates a STAT3-dependent polarization toward increased proinflammatory CD3+CD4+IL-17+ and reduced tolerogenic Foxp3+ Treg lymphocytes (Tregs). Th17 lymphocytes were required for NEC development, as inhibition of STAT3 or IL-17 receptor signaling attenuated NEC in mice, while IL-17 release impaired enterocyte tight junctions, increased enterocyte apoptosis, and reduced enterocyte proliferation, leading to NEC. Importantly, TLR4-dependent Th17 polarization could be reversed by the enteral administration of retinoic acid, which induced Tregs and decreased NEC severity. These findings identify an important role for proinflammatory lymphocytes in NEC development via intestinal epithelial TLR4 that could be reversed through dietary modification.

Chylothorax and chylous ascites: management and pitfalls.

Leakage of lymph from the lymphatic ducts causes chylothorax (CT) or chylous ascitis (CA). This may happen for unknown reasons during fetal life or after birth and may also be caused by trauma after thoracic surgery or by other conditions. Fetal CT and CA may be lethal particularly in cases with fetal hydrops that sometimes benefit of intra-uterine instrumentation. After birth, symptoms are related to the amount of accumulated fluid. Sometimes, severe cardio-respiratory compromise prompts active therapy. Most patients with CT or CA benefit from observation, rest, and supportive measures alone. Drainage of the fluid may be necessary, but then loss of protein, fat, and lymphoid cells introduce new risks and require careful replacement. Low-fat diets with MCT and parenteral nutrition decrease fluid production while allowing adequate nutritional input. If lymph leakage does not stop, secretion inhibitors like somatostatin or octreotide are prescribed, although there is only weak evidence of their benefits. Imaging of the lymphatic system is indicated when the leaks persist, but this is technically demanding in children. Shunting of the lymph from one body space to another by means of valved catheters, embolization of the thoracic duct, and/or ligation of the major lymphatics may occasionally be indicated in cases refractory to all other treatments.

Lean mass and fat mass accretion between term age and 6 months post-term in growth-restricted preterm infants.

Early growth restriction followed by nutritional intakes that permit accelerated growth may result in adiposity and metabolic disease in later life. This study compared growth, body composition and nutritional intake between term age and 6 months post-term in 83 appropriate-for-gestational-age preterm infants with growth restriction at term age (AGA GR+), 15 AGA without growth restriction at term age (AGA GR-) and 33 small-for-gestational-age (SGA) preterm infants. AGA GR+ and SGA preterm infants had higher protein intake, higher energy intake and higher gain in weight SDS between term age and 6 months post-term, with similar lean mass (LM) and lower fat mass (FM) at 6 months post-term compared with AGA GR- preterm infants. In conclusion, despite higher energy and protein intake compared with AGA GR- preterm infants during the first 6 months post-term, AGA GR+ and SGA preterm infants restore their LM without excessive FM.

Importance of dietary calcium and vitamin D in the treatment of hypercalcaemia in Williams-Beuren syndrome.

BACKGROUND: Williams-Beuren syndrome (WBS) is a rare genetic disorder caused by the deletion of 26-28 genes on chromosome 7. Fifteen percent of WBS patients present with hypercalcaemia during infancy, which is generally mild and resolves spontaneously before the age of 4 years. The mechanisms underlying the transient hypercalcaemia in WBS are poorly understood. CASE: We report a case of severe symptomatic hypercalcaemia in a patient with WBS, in which treatment with mild calcium restriction, hyperhydration and repeated bisphosphonate administration only resulted in short-lasting effects. Long-term lowering of serum calcium was only achieved after reducing calcium and vitamin D intake to the bare minimum. CONCLUSIONS: This case illustrates the potential severity of hypercalcaemia in WBS, and demonstrates that both the cause as well as the solution of this problem may be found in the intestinal absorption of calcium. We hypothesise that the phenotypical resemblance between WBS and transient idiopathic infantile hypercalcaemia can be explained by similarities in the underlying genetic defect. Patients suffering from transient infantile hypercalcaemia were recently described to have mutations in CYP24A1, the key enzyme in 1,25-dihydroxyvitamin D3 degradation. In the light of this new development we discuss the role of one of the deleted genes in WBS, Williams syndrome transcription factor (WSTF), in the etiology of hypercalcaemia in WBS.

Literature review and outcome of classic galactosemia diagnosed in the neonatal period.

BACKGROUND: The aim of this study was to evaluate the features and outcome of classic galactosemia diagnosed in the neonatal period. METHODS: A retrospective study was carried out on 22 newborns with classic galactosemia who were followed-up in a tertiary neonatal intensive care unit from January 2005 to January 2011. RESULTS: During the study period, 22 (18 boys, 4 girls) newborns were diagnosed with classic galactosemia. The median gestational age was 38 weeks (31 - 42) with a median age of 13 (3 - 23) days on admission. Major presenting symptoms were hepatomegaly (n = 22, 100%), jaundice [n = 19, 86%; including (n = 14, 63%) indirect and (n = 8, 36%) direct hyperbilirubinemia], vomiting (n = 17, 77%), and nuclear cataract (n = 15, 68%). Liver dysfunction (n = 22, 100%), Escherichia coli sepsis (n = 10), purpura fulminans (n = 1), hemophagocytosis (n = 1), and long QT syndrome (n = 1) were also noted. Cataract resolved in 11 (73%) patients with galactose-restricted diet in the first months. Four patients were operated for cataracts. Neurodevelopmental evaluation showed mild psychomotor retardation in one patient, learning disabilities in five, and developmental delay in three. None died from galactosemia or its complications. Patients who were diagnosed before 17 days did not require cataract operation. CONCLUSIONS: Early diagnosis of galactosemia and treatment with a galactose-restricted diet could partially prevent and recover complications of the disease, but not all of them. Cataracts can develop even in the first few weeks of life. Early diagnosis seems important in the prevention of severe cataracts. Therefore, newborn screening for galactosemia should improve morbidity.

[Infant feeding]. / L'alimentation du nourrisson.

Infants are vulnerable: their growth and their development depend largely on their nutritional status. It is important to propose for them an optimal food. The human milk is unquestionably the best choice for the infant. When breastfeeding is not possible, the choice of the milk is made among hundreds of formulas for infants. They are regulated by a European directive. The healthcare professionals have to recommend as often as possible an infant formula: low protein content, predominance of whey proteins, enrichment with long chain fatty acids, lactose, addition of pre- or probiotics. The formulas for specific indications will be recommended in case of particular situations after verification that the complaints (constipation, regurgitations, stomach pains) cannot be corrected by simple dietary measures (increasing of the intakes of meals with a concomitant reduction of the volume of the meals). The food diversification is recommended between 17 and 26 weeks according to the neuromuscular capacities of the infant. These meals must be presented with a spoon to assure a sufficient nutritional intake. In Belgium, the use is to begin with fruits. One should avoid adding biscuits or sugar. The meal of vegetables will be introduced a little later. It should consist of starchy foods, vegetables with some fat to which the meat will be added. Numerous foods (biscuits, croissants and similar products, chips) should never be part of the ordinary menu, but should be reserved for particular occasions. The education of the children should begin from this age on.

Evaluation of salt supplementation in CF infants.

BACKGROUND: CF infants may be at increased risk of sodium depletion which may lead to impaired growth. The objective of this study was to evaluate their sodium supplementation requirements. METHODS: Ten CF infants had serial measurements of weight and plasma/urine sodium and creatinine. Sodium supplementation was adjusted with the aim of maintaining fractional excretion (FENa) between 0.5% and 1.5% and urinary sodium > 10 mmol/L. RESULTS: Urine sodium:creatinine (UNa:Cr) ratio strongly correlated with FENa [UNa:Cr (mmol/mmol)=35.0 x FENa (r=0.99)]. The FENa target range corresponded to UNa:Cr 17-52 mmol/mmol. All infants required sodium supplementation to achieve UNa:Cr > 17 mmol/mmol. Sodium supplement requirements (mean+/-SD) at ages 0-3, 3-6, 6-9 and 9-12 months were 1.9+/-0.5, 1.8+/-0.8, 1.9+/-0.9 and 0.8+/-0.4 mmol/kg/d. No infant required calorie supplementation to achieve expected weight gain. CONCLUSIONS: Using current UK guidelines, many cases of sodium depletion may be overlooked. Some infants require more than the recommended 1-2 mmol/kg/d. UNa:Cr ratio is a useful non-invasive measure to monitor sodium supplementation.

[Nutrition in infants with BPD after hospital discharged]. / Zywienie dzieci z dysplazja oskrzelowo-plucna po wypisie ze szpitala.

The paper describes current proposals for feeding infants with BPD discharged from neonatal units. Weight and growth as well as tissue composition of infants with BPD are different from infants with similar birth weight. Currently there are no findings as to the advantages of either method of feeding of LBW and ELBW infants after discharge. No research has been done showing the advantage of preterm formula over breast milk. Postdischarge formulas with the content of nutrients more beneficial than breast milk, containing less protein and energy than preterm formulas and more vitamin, minerals and microelements than breast milk, are currently not available in Poland. Considering respiratory and digestion disorders as well as problems with coordination of sucking and swallowing in infants with BPD, the basic rules for BPD infants' feeding should include: 1. increased demand for energy and nutrients; 2. preventing osteopaenia; 3. the necessity for fluid restriction; 4. administration of nutrients necessary for proper development and healing of lungs, such as vit. A and E, LC PUFA, vit C, ferrum, selenium, glutamine, cysteine, metionine, microelements; 5. paying close attention to problems of sucking and swallowing as well as the presence of gastroesophaegal reflux.

Galactosaemia: early treatment with an elemental formula.

Classical galactosaemia is caused by deficient galactose-1-phosphate uridyl transferase activity, and is treated by dietary galactose restriction. Despite dietary treatment, long-term outcomes have not been uniformly favourable. Late complications may include speech abnormalities, ataxia, cognitive impairment, growth delay, bone alterations and ovarian failure. We report an infant whose erythrocyte galactose 1-phosphate (gal-1-P) levels remained well above the treatment range on a low-galactose (soy) formula. Once she was begun on an elemental formula (galactose-free), gal-1-P levels decreased rapidly to within the treatment range. Urine galactitol levels decreased on the elemental formula but were within published treatment ranges despite treatment changes. These did not correlate with the gal-1-P levels. This case suggests further study be considered to determine whether a truly galactose-free diet in infancy could alter the long-term prognosis of classical galactosaemia.

[Effectiveness of the screening programme for galactosemia. New strategy in Poland].

Galactosemia is an autosomal recessive disease related to deficiency of one of three different enzymes involved in the metabolism of galactose: galactokinase (GALK), galactoso-J-phosphate uridyltransferase (GALT) or UDP-galactose-4-epimerase (GALE). Classic galactosemia is due to GALT deficiency and is the most common. Longitudinal studies have shown that in spite of early diagnosis and early treatment of children with galactosemia detected in the mass screening programme, the results are poor and mental retardation as well as other complications are of similar severity as in children diagnosed clinically without screening. In many investigations it was also proved that some impairments developed already in the prenatal period. Therefore, many countries among them also Poland, stopped mass screening for galactosemia. At present, in Poland the procedure strategy in galactosemic children and their families include: diagnosis of new cases on the basis of clinical symptoms, selective screening in high-risk families, prophylactic lactose-free diet for mothers during pregnancy. Such management can help to prevent clinical manifestations in newborns and prevent death in the early period of life.