Medical teleconsultation in the care of children with suspected rare diseases: a pilot study in Brazil during the COVID-19 pandemic

Objective: To evaluate teleinterconsultation in medical genetics for cases of children with suspected rare diseases. Methods: Prospective study of qualitative and quantitative survey that evaluated the use and satisfaction with asynchronous teleinterconsultation for physicians from public hospitals in a city in the northern macro-region of the state of Minas Gerais. Results: A total of 21 teleinterconsultations were performed from September 29, 2020, to January 07, 2021. Eleven (52.4%) of them were able to establish the probable diagnosis in the first evaluation, and the others were within the protocols of rare disease investigation. Of the 12 requesting physicians, 11 (91.6%) were female, seven (58.2%) were paediatric residents, and five (41.7%) were paediatricians. Seven of the requesting physicians had never used telemedicine before. There was 100% satisfaction with the teleinterconsultation with the specialist geneticist. Conclusion: Teleinterconsultation in medical genetics for children with rare diseases met expectations, modified the conduct of non-specialist physicians in a city lacking a geneticist, and guided diagnosis and conduct in all cases

Ação de fatores enzimáticos na obtenção de hidrolisados protéicos de farinha de trigo com baixo teor de fenilalanina

With the aim of producing wheat flour with low phenylalanine (Phe) content to be introduced in phenylketonuric's diet, the proteins were enzymaticaly extracted, using an alkaline protease from Bacillus licheniformis. Then, the protein extracts were hydrolyzed by the action of commercial enzymes (pancreatin and bromelain) and of enzymatic extracts obtained from pineapple peel (crude and purified). Some enzymatic parameters were evaluated, such as type of enzyme, type of enzyme action, type of enzymatic association and order of enzyme action. The activated carbon (AC) was used as adsorbent and the efficiency of Phe removal was evaluated by second derivative spectrophotometry measuring the Phe content in wheat flour and in their hydrolysates after AC treatment. The best result was found for the successive association of crude extract followed by pancreatin obtaining 66.28% of removal and a final Phe content of 522.44 mg/100 g of hydrolysate.Visando ao preparo de farinha de trigo com baixo teor de fenilalanina (Phe), extraiu-se, enzimaticamente as proteínas, empregando-se uma protease alcalina de Bacillus licheniformis. Em seguida, os extratos protéicos foram hidrolisados pela ação de enzimas comerciais (pancreatina e bromelina) e de extratos enzimáticos obtidos da casca de abacaxi (bruto e purificado), avaliando-se alguns parâmetros enzimáticos, tais como tipo de enzima, tipo de ação enzimática, tipo de associação enzimática e ordem de ação enzimática. O carvão ativado (CA) foi empregado como meio adsorvente e a eficiência da remoção de Phe foi avaliada por espectrofotometria derivada segunda, determinando-se o teor de Phe na farinha de trigo e em seus hidrolisados, após tratamento com CA. O melhor resultado foi encontrado ao se empregar a associação sucessiva do extrato bruto seguida da pancreatina, tendo atingido 66,28% de remoção e o teor final de Phe de 522,44 mg/100 g de hidrolisado

Triagem neonatal: o que os pediatras deveriam saber

OBJETIVO: Revisão da literatura para avaliar a situação da triagem neonatal no mundo e no Brasil. Definir o papel do pediatra nos programas de triagem neonatal. FONTES DOS DADOS: Artigos científicos selecionados por meio de pesquisa feita nos sites de busca médica MEDLINE, Cochrane, PubMed (MeSH) e MD Consult, usando as palavras-chave newborn screening, neonatal, pediatrics, diagnosis, primary care, ethics e seus correspondentes em português de forma isolada e combinada, livros médicos sobre genética e erros inatos do metabolismo, publicados entre janeiro de 1998 e dezembro de 2007, manual de normas técnicas e rotinas do Programa Nacional de Triagem Neonatal, portaria 822/2001, do Ministério da Saúde. SÍNTESE DOS DADOS: Os dados da literatura mostram grande diversidade no número de doenças incluídas na triagem neonatal em cada país. No Brasil, foi criado o Programa Nacional de Triagem Neonatal em 2001, determinando a realização da triagem para fenilcetonúria, hipotireoidismo congênito, doença falciforme e fibrose cística. A triagem ampliada por espectrometria de massa é, hoje, motivo de controvérsias e discussões sobre questões financeiras e éticas. CONCLUSÕES: A triagem neonatal representa um dos principais avanços para a prevenção de doenças na pediatria. Entretanto, sua implantação é complexa, multidisciplinar, depende de políticas públicas de saúde e não há, até o momento, consenso sobre quais doenças devam ser incluídas. Diversas questões científicas e éticas precisam ser discutidas para melhor definição dos painéis a serem seguidos. O pediatra tem papel importante em todas as etapas dos programas de triagem neonatal

Newborn screening: what pediatricians should know Triagem neonatal: o que os pediatras deveriam saber

Resumo Objetivo: Revisão da literatura para avaliar a situação da triagem neonatal no mundo e no Brasil. Definir o papel do pediatra nos programas de triagem neonatal. Fontes dos dados: Conclusões: A triagem neonatal representa um dos principais avanços para a prevenção de doenças na pediatria. Entretanto, sua implantação é complexa, multidisciplinar, depende de políticas públicas de saúde e não há, até o momento, consenso sobre quais doenças devam ser incluídas. Diversas questões científicas e éticas precisam ser discutidas para melhor definição dos painéis a serem seguidos. O pediatra tem papel importante em todas as etapas dos programas de triagem neonatal. J Pediatr (Rio J). 2008;84(4 Supl):S80-90: Triagem neonatal, triagem genética, pediatria, genética médica, ética, ética médica. Abstract Objective: To review the literature on the current situation of neonatal screening worldwide and in Brazil. To define the role of pediatricians in neonatal screening programs

Nutritional management and postoperative prognosis of newborns submitted to primary surgical repair of gastroschisis

Objective: Gastroschisis is a defect of the abdominal wall, resulting in congenital evisceration and requiring neonatal intensive care, early surgical correction, and parenteral nutrition. This study evaluated newborns with gastroschisis, seeking to associate nutritional characteristics with time of hospital stay. Methods: This was a retrospective cohort study of 49 newborns undergoing primary repair of gastroschisis between January 1995 and December 2010. The newborns’ characteristics were described with emphasis on nutritional aspects, correlating them with length of hospital stay. Results: The characteristics that influenced length of hospital stay were: 1) newborn small for gestational age (SGA); 2) use of antibiotics; 3) day of life when enteral feeding was started; 4) day of life when full diet was reached. SGA infants had longer length of hospital stay (24.2%) than other newborns. The length of hospital stay was increased by 2.1% for each additional day taken to introduce enteral feeding. However, slower onset of full enteral feeding acted as a protective factor, decreasing length of stay by 3.6%. The volume of waste drained by the stomach catheter in the 24 hours prior the start of enteral feeding was not associated with the timing of diet introduction or length of hospital stay. Conclusion: Early start of enteral feeding and small, gradual increase of volume can shorten the use of parenteral nutrition. This management strategy contributes to reduce the incidence of infection and length of hospital stay of newborns with gastroschisis

Pfeiffer syndrome: clinical and genetic findings in five Brazilian families

Pfeiffer syndrome (PS) is mainly characterized by craniosysnostosis, midface hypoplasia, great toes with partial syndactyly of the digits and broad and medially deviated thumbs. It is caused by allelic mutations in the fibroblast growth factor receptor 1 and 2 (FGFR1 and 2) genes. This study describes the clinical and genetic features of five Brazilian families affected by PS. All patients exhibited the classical phenotypes related to PS. The genetic analysis was able to detect the mutations Cys278Phe, Cys342Arg, and Val359Leu in three of these families. Two mutations were de novo, with one familial. We identified pathogenic mutations in four PS cases in five Brazilian families by PCR sequencing of FGFR1 exon 5 and FGFR2 exons 5, 8, 10, 11, 15, and 16. The clinical and genetic aspects of these families confirm that this syndrome can be clinically variable, with different mutations in the FGFR2 responsible for PS