José Simon Camelo Júnior

Functional deficiencies of sulfite oxidase: Differential diagnoses in neonates presenting with intractable seizures and cystic encephalomalacia

Sulfite oxidase is a mitochondrial enzyme encoded by the SUOX gene and essential for the detoxification of sulfite which results mainly from the catabolism of sulfur-containing amino acids. Decreased activity of this enzyme can either be due to mutations in the SUOX gene or secondary to defects in the synthesis of its cofactor, the molybdenum cofactor. Defects in the synthesis of the molybdenum cofactor are caused by mutations in one of the genes MOCS1, MOCS2, MOCS3 and GEPH and result in combined deficiencies of the enzymes sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase. Although present in many ethnic groups, isolated sulfite oxidase deficiency and molybdenum cofactor deficiency are rare inborn errors of metabolism, which makes awareness of key clinical and laboratory features of affected individuals crucial for early diagnosis. We report clinical, radiologic, biochemical and genetic data on a Brazilian and on a Turkish child with sulfite oxidase deficiency due to the isolated defect and impaired synthesis of the molybdenum cofactor, respectively. Both patients presented with early onset seizures and neurological deterioration. They showed no sulfite oxidase activity in fibroblasts and were homozygous for the mutations c.1136A>G in the SUOX gene and c.667insCGA in the MOCS1 gene, respectively. Widely available routine laboratory tests such as assessment of total homocysteine and uric acid are indicated in children with a clinical presentation resembling that of hypoxic ischemic encephalopathy and may help in obtaining a tentative diagnosis locally, which requires confirmation by specialized laboratories.

Avaliação econômica em saúde: triagem neonatal da galactosemia

This study assesses the efficiency of the galactosemia add-on test in neonatal screening performed on regular Guthrie card blood spots. Based on estimated average incidence of galactosemia (1:19,984 newborns) in São Paulo State, Brazil, the study develops a cost-benefit analysis model, using a B/C ratio and a 9.25% annual interest rate in order to decapitalize the results. Sensitivity analysis is also performed, varying (as a function of the interest or discount rate) from 0 and 20% and according to the 95% confidence interval (1:7,494-1:59,953 newborns). The results show that the savings obtained by improved health of galactosemic patients detected early by add-on neonatal screening is superior to the costs (B/C=1.33), characterizing galactosemia add-on testing in neonatal screening as an efficient policy. The lower the prevailing interest rate in the economy, the more efficient the neonatal screening policy.Este trabalho avalia a eficiencia da adicao do exame da galactosemia junto ao Teste do Pezinho. Baseado na incidencia media estimada de galactosemia, de 1:19.984 recem-nascidos, no Estado de Sao Paulo, Brasil, este estudo desenvolve um modelo de analise de custo-beneficio, utilizando a relacao beneficio/custo (B/C), a taxa de juros de 9,25% ao ano para descapitalizacao dos resultados obtidos. Tambem se realiza uma analise de sensibilidade, em funcao da variacao da taxa de juros entre 0 e 20% e do intervalo de 95% de confianca da incidencia da galactosemia (1:7.494 a 1:59.953 recem-nascidos). A economia obtida com a melhora da saude das criancas doentes identificadas precocemente e superior aos custos (B/C = 1,33), caracterizando como eficiente a politica de adicao do exame neonatal para galactosemia no Teste do Pezinho. Quanto menor a taxa de juros vigente na economia, mais eficiente e a politica de triagem neonatal, nao considerados os custos sociais intangiveis evitados.

Niacin nutritional status in HIV type 1-positive children: preliminary data.

Objective: HIV infection induces a state of pellagra in cell culture models. This study compared the nutritional status and the 24-hour urine excretion of N1-methylnicotinamide between HIV-positive children and HIV-negative children who were or were not born of mothers with HIV-1 infection. Patients and Methods: Forty patients were included in the study: HIV-positive children (group 1; n = 20), HIV-negative children born to infected mothers (group 2; n = 10), and HIV-negative control children (group 3; n = 10). Usual dietary intake was assessed by a semiquantitative food-frequency questionnaire. Weight and height were assessed and compared with the reference data of the U.S. National Center for Health Statistics/Centers for Disease Control and Prevention. For the estimation of fat-free mass and total body water, bioelectrical impedance technique was used. N1-methylnicotinamide was measured by a modified method of high-performance liquid chromatography. Results: Groups were matched in relation to age, sex, percentage of malnutrition, anthropometric measures, and body composition. Daily niacin intake did not differ statistically across groups (group 1 = 18.0 ± 11.4 mg/day; group 2 = 18.9 ± 8.0 mg/day; group 3 = 14.2 ± 5.2 mg/day), nor did intake of tryptophan, vitamin B6, and zinc. The values of urinary niacin per gram of creatinine were similar and adequate across the groups (group 1 = 4.68 [0.75–14.9]; group 2 = 3.74 [1.13–5.69]; group 3 = 3.85 [1.80–8.19]). Conclusions: HIV-positive children excreted the same amount of N1-methylnicotinamide in urine as did the control children. These findings may be attributed to similarities in nutritional status, adequate intestinal absorption (no children experienced diarrhea) and stable clinical condition.

Body Composition in Obese Adolescents: Deuterium Oxide Dilution Method, Bioelectrical Impedance and Predictive Equations

Background & Aims: Considering that obese adolescents present alterations in the quantity of body water, fat and lean body mass, specific formulae need to be adjusted through a reference method. This study aimed to describe and compare the body composition data obtained by bioelectrical impedance analysis (BIA) and the deuterium oxide dilution method (DODM). To identify possible correlations and agreement between these two techniques and adjust linear regression models for the prediction of DODM values on the basis of BIA results. Methods: Anthropometric measurements were accomplished for obese adolescents, and their body composition was assessed by the BIA and DODM techniques. Results: Compared to the DODM technique, BIA overestimated the fat-free mass (FFM) and the total body water (TBW) and underestimated the fat mass (FM). There was a significant positive correlation but no agreement between the FFM (kg), FM (kg), and TBW (L) data achieved via DODM and BIA. The application of linear regression model adjustments to the values measured by BIA enabled prediction of the DODM values for body composition in obese adolescents. Conclusion: These formulas have been demonstrated to improve the agreement between the two methods, so a more accurate tool that is closer to the DODM reference technique has been made available for use in clinical practice.

NEUROCOMPORTAMENTO DE BEBÊS NASCIDOS PRÉ-TERMO, PEQUENOS E ADEQUADOS PARA A IDADE GESTACIONAL

ABSTRACT Objective: To compare the neurobehavioral development of preterm infants with postconceptional age between 32 and 36 weeks and 6 days, according to the adequacy of the weight for the gestational age at birth. Methods: A cross-sectional study was performed comparing two independent groups. The 55 preterm infants who were included in the sample were hospitalized in a neonatal intermediate care unit and were evaluated using the Neurobehavioral Assessment of the Preterm Infant (NAPI) at the postconceptional age between 32 and 36 weeks and 6 days and compared according to the adequacy of the weight for the gestational age. In addition to the comparison between the groups, infants who were born small for gestational age (SGA) and those ones adequate for gestational age (AGA) were also compared, considering the type of intrauterine growth. The following instruments were used: NAPI, anamnesis script, Brazilian Economic Classification Criteria, and medical records. Results: Infants were born with mean gestational age of 32.0 weeks, with the postconceptional age and postnatal age of 34.8 weeks and 19.5 days, respectively. The sample consisted of 55% of female infants. The results did not show any differences in NAPI domains between SGA and AGA groups, neither in the subgroups of SGA babies with symmetric or asymmetric growth. Conclusions: There was no difference between SGA and AGA babies in relation to neurobehavioral development evaluated before reaching term.

The Role of Rehabilitation Specialists in Canadian NICUs: A 21st Century Perspective

Abstract Rehabilitation specialists are an integral part of the team in the neonatal intensive care unit (NICU). New approaches to rehabilitation practice in the NICU have evolved over the past decade that aim to promote child health and development. Aims: The aim of this study was to describe the current roles of the occupational therapist (OT), physical therapist (PT) and speech-language pathologist (SLP) in Canadian NICUs as compared to the roles documented in an earlier national survey conducted 15 years ago. Methods: A telephone survey was conducted across Canadian NICUs and each telephone interview was recorded by a research assistant. In total, 42 questionnaires were completed across 25 health care institutions. Results: Eighty percent of the PT, 93.7% of OT and 50% of SLP provided direct services to neonates in the NICU. The results demonstrated that the therapists were involved with case discussion (85.7%), decision-making (97.6%), referrals to other services (97.6%) and discharge planning (97.6%). Splinting (87.5%) and feeding (100%) were most often carried out by OT, whereas chest physiotherapy (65%) and range of motion (100%) were predominantly provided by PT. Changes in the role of rehabilitation specialists over the last decade predominantly included enhanced collaboration with the NICU team, more frequent use of standardized outcome measures and use of interventions supported by evidence. Conclusion: In comparison with results of the previous survey of rehabilitation practices in Canadian NICUs, rehabilitation specialists now have more dedicated time in the NICU and more frequently use standardized measures and apply interventions that are supported by recent scientific studies.

Bioelectrical Impedance Vector Analysis in Healthy Term Infants in the First Three Months of Life in Brazil

ABSTRACT Objective: Bioelectrical impedance vectorial analysis (BIVA) can be considered a favorable method for evaluation and monitoring of nutritional and hydration status without assumptions regarding body composition or requirement of prediction formulas. The present study aimed to determine bivariate tolerance intervals of the whole-body impedance vector for healthy term infants aged 1 to 3 months. Methods: This is a descriptive cross-sectional study. Anthropometric and bioelectrical impedance data (800 mA–50 kHz) were obtained. Bivariate vector analysis was conducted with the resistance–reactance (RXc) graph method. BIVA software was used to construct the graphs. Results: A total of 150 appropriate for gestational age infants (48.7% boys) who were exclusively breastfed and were 56.4 (SD = 23.1) days of age were studied. RXc tolerance ellipses (50, 75, and 95%) were constructed for boys and girls, but a general reference graph was defined for all infants considering the overlapping of ellipses between the genders. All graphs differed from those in national and foreign studies. Conclusion: New reference tolerance ellipses (95, 75, and 50%) for 1- to 3-month-old infants were constructed, pointing out the need for specific reference values of total body impedance vectors in different regions of Brazil. The RXc tolerance ellipses can be used for clinical practice and provide an easy method to evaluate and monitor body composition and hydration status.

Phase angle and World Health Organization criteria for the assessment of nutritional status in children with osteogenesis imperfecta

Abstract Objective: To compare the phase angle of patients with osteogenesis imperfecta treated at a tertiary university hospital with patients in a control group of healthy children, and to assess the nutritional status of these patients through the body mass index proposed by the World Health Organization. Methods: Cross-sectional study carried out in a university hospital that included seven patients with osteogenesis imperfecta and a control group of 17 healthy children of the same gender and age. Weight and height were measured and bioelectrical impedance was performed. Subsequently, the phase angle was calculated based on resistance and reactance values. Results: The phase angle of the group of children with osteogenesis imperfecta was significantly lower than that of the control group (p<0.05). The body mass index criterion for age of the World Health Organization showed no difference between groups. Conclusions: Children with osteogenesis imperfecta have a nutritional risk detected by the phase angle, which is a useful tool for nutritional screening. The calculation result could help in the diet therapy of patients with osteogenesis imperfecta.