Nocturnal enteral nutrition is therapeutic for growth failure in Fanconi-Bickel syndrome.

Fanconi-Bickel syndrome (FBS) is a rare autosomal recessive disorder characterised by impaired glucose liver homeostasis and proximal renal tubular dysfunction. It is caused by pathogenic variants in SLC2A2 coding for the glucose transporter GLUT2. Main clinical features include hepatomegaly, fasting hypoglycaemia, postprandial hyperglycaemia, Fanconi-type tubulopathy occasionally with rickets, and a severe growth disorder. While treatment for renal tubular dysfunction is well established, data regarding optimal nutritional therapy are scarce. Similarly, detailed clinical evaluation of treated FBS patients is lacking. These unmet needs were an incentive to conduct the present pilot study. We present clinical findings, laboratory parameters and molecular genetic data on 11 FBS patients with emphasis on clinical outcome under various nutritional interventions. At diagnosis, the patients' phenotypic severity could be classified into two categories: a first group with severe growth failure and rickets, and a second group with milder signs and symptoms. Three patients were diagnosed early and treated because of family history. All patients exhibited massive glucosuria at diagnosis and some in both groups had fasting hypoglycaemic episodes. Growth retardation improved drastically in all five patients treated by intensive nutritional intervention (nocturnal enteral nutrition) and uncooked cornstarch with final growth parameters in the normal range. The four severely affected patients who were treated with uncooked cornstarch alone did not catch up growth. All patients received electrolytes and l-carnitine supplementation to compensate for the tubulopathy. This is one of the largest series of FBS on therapeutic management with evidence that nocturnal enteral nutrition rescues growth failure.

Laparoendoscopic gastrostomy tube placement: our all-in-one technique.

BACKGROUND AND AIMS: Gastrostomy tube placement may be performed in numerous ways: percutaneous endoscopic gastrostomy (PEG), laparoscopic PEG, and laparoscopic gastrostomy tube placement. In this paper, we propose a new technique of laparoendoscopic gastrostomy tube (LEGT) placement, using a three-suture technique to pexy the stomach to the abdominal wall. This paper outlines the LEGT technique and its benefits over previously reported techniques. PATIENTS AND METHODS: Five children were included in this study during 2007. Their ages ranged from 15 months to 14 years. Under general anesthesia, a gastroscope was placed in the stomach and laparoscopic visualization was obtained through a 5-mm umbilical port. Two small incisions were made transabdominally for working instruments. Using laparoscopic visualization, three sutures were placed around a proposed gastrostomy site in the stomach. These sutures were pulled externally, using a GraNee needle (R-Med, Inc., Oregon, OH). Under visualization by a gastroscope, the gastrostomy button was placed in the center of these three sutures at the proposed gastrostomy tube site. Once the gastrostomy balloon was inflated, the three sutures were pulled taught and tied subcutaneously to pexy the stomach to the abdominal wall. Inspection with the gastroscope and laparoscope ensured proper gastrostomy tube placement. RESULTS: All patients had no complications intra- or postoperatively and at 2 months of follow-up. An optimal cosmetic result was obtained, and there was no need for suture removal or a second procedure. CONCLUSIONS: The laparoscopic visualization of the LEGT avoids accidental gastrocolic fistula formation and allows primary placement of the gastrostomy button without need for subsequent procedures. The endoscopic visualization, if the LEGT ensures the gastrostomy tube, is placed within the gastric lumen. Additionally, the three-suture technique gives an optimal fixation of the stomach to the abdominal wall, gives outstanding cosmetic results, avoids accidental disruption of sutures, and has no need for suture removal at a postoperative visit. LEGT thus serves as a one-stop shopping approach for gastrostomy in children.

Acompanhamento nutricional de criança portadora de anemia falciforme na Rede de Atenção Básica à Saúde / Nutritional follow-up of children with sickle cell anemia treated in a Primary Care Unit

OBJETIVO: Relatar estudo de caso de atendimento nutricional a criança com diagnóstico de anemia falciforme. DESCRIÇÃO DO CASO: Realizaram-se quatro atendimentos nutricionais pela equipe do Internato de Nutrição da Universidade do Estado do Rio de Janeiro (Uerj) no período de julho a setembro de 2005 a criança de 1 a 4 meses, feminina, negra, com anemia falciforme. Na avaliação do estado nutricional e do ganho de peso, empregaram-se os seguintes indicadores antropométricos: comprimento/idade, peso/idade e peso/comprimento, e um indicador de impacto nutricional. A análise dietética compreendeu a avaliação da ingestão energética e de macronutrientes observada na primeira consulta após 30 dias de intervenção. COMENTÁRIOS: Ao longo do período analisado, a baixa estatura para a idade (z=−1,32) evoluiu para adequação (z=0,87), enquanto o peso em relação ao comprimento manteve-se inadequado (z=−2,53). O ganho de peso foi 50% inferior ao incremento esperado. O consumo energético inicialmente inadequado (60% das recomendações) alcançou, após 30 dias, 117%. A Estratégia em Saúde da Família vem sendo recomendada como importante ferramenta para monitorar as condições nutricionais, bem como para melhorar a atenção prestada. Entretanto, considerando o modelo de atenção primária local, observa-se haver necessidade de capacitação, especialmente no que tange às peculiaridades inerentes à condição de nutrição e de saúde dos portadores de anemia falciforme.

OBJECTIVE: To report the nutritional follow-up of a black baby girl, one year and four months old, with homozygous sickle cell anemia. CASE DESCRIPTION: From July-September 2005, the infant attended four nutritional appointments at the Nutrition Internship Program from the State University of Rio de Janeiro, Rio de Janeiro, Brazil. The nutritional status was evaluated by the anthropometric indexes: length/age, weight/age and weight/length, and by one indicator of nutritional impact. Analysis of the energy dietary intakes and macronutrients ingestion was performed in two opportunities: at the first nutritional evaluation and 30 days after the first intervention. COMMENTS: At the first nutritional evaluation, the child presented low stature/age (z=−1,32), that became adequate during the follow-up (z=0,87). The low weight/length (z=−2,53) was similar at the first and final evaluations. The weight gain during the follow-up period was only 50% of the expected increment. The energy dietary intake was 66% of the recommended energy intake at the first appointment and 117% after 30 days. The Family Health Strategy is recommended as an important tool to monitor nutritional status and improve nutritional care. There is a need of developing professional skills regarding nutritional care of patients with sickle cell anemia.

Probiotics and medical nutrition therapy.

Probiotics have been defined by The Food Agricultural Organization/World Health Organization (FAO/WHO) as "live microorganisms which when administered in adequate amounts confer a health benefit to the host." They have been used for centuries in the form of dairy-based fermented products, but the potential use of probiotics as a form of medical nutrition therapy has not received formal recognition. A detailed literature review (from 1950 through February 2004) of English-language articles was undertaken to find articles showing a relationship between probiotic use and medical conditions. Medical conditions that have been reportedly treated or have the potential to be treated with probiotics include diarrhea, gastroenteritis, irritable bowel syndrome, and inflammatory bowel disease (Crohn's disease and ulcerative colitis), cancer, depressed immune function, inadequate lactase digestion, infant allergies, failure-to-thrive, hyperlipidemia, hepatic diseases, Helicobacter pylori infections, genitourinary tract infections, and others. The use of probiotics should be further investigated for possible benefits and side-effects in patients affected by these medical conditions.