In biliary atresia (BA), efforts to prevent premature liver transplantation (LT) are aimed at early diagnosis, timing of Kasai-portoenterostomy (KPE), and centralization of care. This report presents the clinical picture, treatment strategies, and outcomes of BA patients with no previous treatment. A retrospective cohort study (Jan/2001 to Jan/2021) was conducted to evaluate the outcome of patients with BA referred to a single team. Study groups were: 1) Kasai-only group (K-only) n=9), 2) LT-only group (n=7), and 3) Kasai+LT group (K+LT) (n=23). Survival with native liver and overall survival were 22.9 and 94.8%, respectively, at 120 months of follow-up. There was no difference in age at KPE in the K-only group (46.8±21.8 days) vs K+LT (52.1±22 days), P=0.4. Ten (25.6%) patients were babies conceived through in vitro fertilization (IVF). Four IVF patients (40%) presented associated congenital heart disease vs 5 patients (17%) in the remaining group (P=0.14). Two of the IVF patients were premature (<37 weeks). Median maternal age at birth was 35 years (33 to 41 years). Excellent patient survival is expected for patients with BA with the available treatment strategies. IVF+BA was an unexpected prevalent association in this cohort, and further studies are required to better understand these findings.

Galactosemia is an inborn error of galactose metabolism that occurs mainly as the outcome of galactose-1-phosphate uridyltransferase (GALT) deficiency. The ability to assess galactose oxidation following administration of a galactose-labeled isotope (1-13C-galactose) allows the determination of galactose metabolism in a practical manner. We aimed to assess the level of galactose oxidation in both healthy and galactosemic Brazilian children. Twenty-one healthy children and seven children with galactosemia ranging from 1 to 7 years of age were studied. A breath test was used to quantitate 13CO2 enrichment in exhaled air before and at 30, 60, and 120 min after the oral administration of 7 mg/kg of an aqueous solution of 1-13C-galactose to all children. The molar ratios of 13CO2 and 12CO2 were quantified by the mass/charge ratio (m/z) of stable isotopes in each air sample by gas-isotope-ratio mass spectrometry. In sick children, the cumulative percentage of 13C from labeled galactose (CUMPCD) in the exhaled air ranged from 0.03% at 30 min to 1.67% at 120 min. In contrast, healthy subjects showed a much broader range in CUMPCD, with values from 0.4% at 30 min to 5.58% at 120 min. The study found a significant difference in galactose oxidation between children with and without galactosemia, demonstrating that the breath test is useful in discriminating children with GALT deficiencies.

Maple syrup urine disease (MSUD) is an autosomal recessive disease associated with high levels of branched-chain amino acids. Children with MSUD can present severe neurological damage, but liver transplantation (LT) allows the patient to resume a normal diet and avoid further neurological damage. The use of living related donors has been controversial because parents are obligatory heterozygotes. We report a case of a 2-year-old child with MSUD who underwent a living donor LT. The donor was the patient's mother, and his liver was then used as a domino graft. The postoperative course was uneventful in all three subjects. DNA analysis performed after the transplantation (sequencing of the coding regions of BCKDHA, BCKDHB, andDBT genes) showed that the MSUD patient was heterozygous for a pathogenic mutation in the BCKDHB gene. This mutation was not found in his mother, who is an obligatory carrier for MSUD according to the family history and, as expected, presented both normal clinical phenotype and levels of branched-chain amino acids. In conclusion, our data suggest that the use of a related donor in LT for MSUD was effective, and the liver of the MSUD patient was successfully used in domino transplantation. Routine donor genotyping may not be feasible, because the test is not widely available, and, most importantly, the disease is associated with both the presence of allelic and locus heterogeneity. Further studies with this population of patients are required to expand the use of related donors in MSUD.

Background: There are scarce data about the efficacy and security of meal replacement products as a strategy to weight loss. Aim: To evaluate the efficacy and safety of a weight loss program that includes meal replacement products. Methods: We evaluated the effect of a hypocaloric diet versus a hypocaloric diet that includes meal replacement products in 55 overweight or type I obese patients. Patients were distributed to a control group (hypocaloric diet) or an intervention group (hypocaloric diet with meal replacement products) during 8 weeks. We registered anthropometric data, smoke habit and level of physical activity. We also studied biochemical parameters at the beginning of the study, at 4th week of the study and at the end of the same. Results: The control group lost 3.97 kg, while in the intervention group we observed a loss of 4.44 kg. These differences were not statistically significant between groups. Other anthropometric parameters as waist and hip perimeters diminished also in both groups, without differences between them. We observed also a statistically significant decrease (p = 0.041) in the values of triglycerides, without differences between groups again. Discussion: Meal replacement products were as effective and safe to lose weight and to modify other anthropometric parameters in a controlled dietetic program as a conventional dietetic treatment without meal replacement products.

Introducción: Existen pocos estudios que hayan evaluado la eficacia y la seguridad de los sustitutivos de comidas para perder peso. Objetivo: Evaluar la eficacia y la seguridad de un programa de pérdida de peso que incluía productos sustitutivos de comidas. Métodos: Se evaluó el efecto de una dieta hipocalórica versus una dieta hipocalórica que incluía sustitutivos de comidas en 55 voluntarios con sobrepeso u obesidad grado I. Los sujetos fueron distribuidos en un grupo control (dieta hipocalórica) o un grupo de intervención (dieta hipocalórica con sustitutivos de comidas) durante 8 semanas. Se registraron datos antropométricos, hábito tabáquico y nivel de actividad física. También se realizaron extracciones sanguíneas para evaluar cambios bioquímicos al inicio del estudio, a las 4 semanas y al final del estudio. Resultados: El grupo control perdió 3,97 kg de media, mientras que en el grupo intervención se observó una pérdida de 4,44 kg, no siendo estas diferencias estadísticamente significativas entre grupos. Otros parámetros antropométricos como el perímetro de la cintura y el perímetro de la cadera también disminuyeron en ambos grupos, aunque sin diferencias entre grupos. Se observó una disminución estadísticamente significativa (p = 0,041) en los valores de triglicéridos, aunque también sin diferencias entre grupos. Discusión: Los sustitutivos de comidas, dentro de un programa dietético controlado, fueron tan eficaces y seguros para perder peso y modificar otros parámetros antropométricos como el tratamiento dietético convencional sin sustitutivos.