Identification of mutations in the pah gene in pku patients in the state of mato grosso
Conclusion: The only mutations found in the analyzed samples were the IVS10nt-11G>A, V388M, and R261Q. The genotype/phenotype correlation only occurred in four (5.3%) patients.RESUMO Objetivo: Identificar muta ções da fenilalanina hidroxilase (PAH) em pacientes com PKU (fenilcetonúria) do Serviço de Triagem Neonatal em Mato Grosso. Métodos: Estudo de corte transversal. Amostra composta de 19 pacientes com PKU através do exame de triagem neonatal biológica. Análise molecular: a) extração de DNA pela metodologia “ salting out ” . B) detec ção de mutações IVS10nt-11G>A, V388M, R261Q, R261X, R252W...
Source: Revista Paulista de Pediatria - February 14, 2020 Category: Pediatrics Source Type: research

Consumption of ultra-processed foods by children under 24 months of age and associated factors
Conclusions: Children under 24 months start consuming ultra-processed products at an early age, replacing foods considered natural and healthy. This study can contribute to guide health professionals in counseling families about feeding in the first years of life, emphasizing the proper introduction of complementary feeding and discouraging the consumption of ultra-processed products.RESUMO Objetivo: Avaliar o consumo de alimentos ultraprocessados por crian ças do município de Montes Claros, com idade inferior a 24 meses de idade, e identificar fatores associados a esse consumo. Métodos: Estudo transversal de base ...
Source: Revista Paulista de Pediatria - February 14, 2020 Category: Pediatrics Source Type: research

Association between physical activity practice and clustering of health risk behaviors in adolescents
Conclusions: High participation in PA was inversely associated with the clustering of HRB in adolescents.RESUMO Objetivo: Verificar a associa ção entre a participação em atividade física (AF) e a agregação de comportamentos de risco à saúde (CRS) em adolescentes de ambos os sexos. Métodos: Estudo transversal com participação de 862 adolescentes (11 a 17 anos) matriculados em 14 escolas públicas, selecionadas aleatoriamente, da cidade de Curitiba, Paraná. Foram avaliados a participação em AF, o tempo em tela, o consumo de frutas, vegetais, cigarros e de bebidas alcoólicas por meio de questionários. P...
Source: Revista Paulista de Pediatria - February 14, 2020 Category: Pediatrics Source Type: research

Erratum
ABSTRACT Objective: To describe a case of a male adolescent with symptomatic idiopathic intracranial hypertension (IIH) associated with obesity treated with bariatric surgery. Case description: A 16-year-and-6-month-old severely obese boy [weight: 133.6 kg; height: 1.74 m (Z score: +0.14); BMI: 44.1 kg/m2 (Z score: +4.4)], Tanner pubertal stage 5, presented biparietal, high-intensity, and pulsatile headaches, about five times per week, associated with nocturnal awakenings, and partial improvement with common analgesics, for three months. Ophthalmologic evaluation evidenced bilateral papilledema. Cranial computed tomograp...
Source: Revista Paulista de Pediatria - January 18, 2020 Category: Pediatrics Source Type: research

Bariatric surgery as a treatment for idiopathic intracranial hypertension in a male adolescent: case report
ABSTRACT Objective: To describe a case of a male adolescent with symptomatic idiopathic intracranial hypertension (IIH) associated with obesity treated with bariatric surgery. Case description: A 16-year-and-6-month-old severely obese boy [weight: 133.6 kg; height: 1.74 m (Z score: +0.14); BMI: 44.1 kg/m2 (Z score: +4.4)], Tanner pubertal stage 5, presented biparietal, high-intensity, and pulsatile headaches, about five times per week, associated with nocturnal awakenings, and partial improvement with common analgesics, for three months. Ophthalmologic evaluation evidenced bilateral papilledema. Cranial computed tomograp...
Source: Revista Paulista de Pediatria - January 13, 2020 Category: Pediatrics Source Type: research

Schistosomal myeloradiculopathy in a non-endemic area
ABSTRACT Objective: To report a schistosomal myeloradiculopathy case in a non-endemic area. Case description: A previously healthy 11-year-old boy, stricken by an acute loss of strength on his lower limbs, followed by a loss of strength on his upper limbs and upper body, associated with altered sensitivity of the vesical globe formation. The patient ’ s cerebrospinal fluid analysis showed eosinophilic meningitis, in addition to peripheral eosinophilia. The investigation resulted in a positive serology for Schistosoma mansoni. The treatment included steroids and praziquantel 60mg/kg, with a new dose after a month, as we...
Source: Revista Paulista de Pediatria - January 13, 2020 Category: Pediatrics Source Type: research

Stature estimate of children with cerebral palsy through segmental measures: a systematic review
Conclusions: Given the importance of accuracy in height measures to evaluate infant health, it is crucial to carry out more researches in order to safely establish an association between both estimate and real statures. The development of anthropometric protocols, emerged from such researches, would benefit the follow-up of children with severe psychomotor disabilities.RESUMO Objetivo: Revisar estudos que avaliam correspond ência entre a altura estimada por medidas segmentares e a estatura real de crianças com paralisia cerebral. Fonte de dados: Revisão sistemática da literatura entre 1995 e 2018, guiada pela diretri...
Source: Revista Paulista de Pediatria - January 13, 2020 Category: Pediatrics Source Type: research

Baby-led weaning, an overview of the new approach to food introduction: integrative literature review
Conclusions: Despite the benefits found, the risks still deserve attention and should be investigated with longitudinal randomized controlled studies to ensure the safety of the method when practiced exclusively.RESUMO Objetivo: Analisar a literatura cient ífica referente ao desmame guiado pelo bebê (Baby-Led Weaning) por meio de revisão integrativa de literatura a fim de identificar riscos e benefícios. Fonte de dados: As bases de dados utilizadas foram: National Library of Medicine (MEDLINE), Literatura Latino-Americana e do Caribe em Ciências da Saúde (LILACS), US National Library of Medicine (PubMed) e Bibliot...
Source: Revista Paulista de Pediatria - January 13, 2020 Category: Pediatrics Source Type: research

Systematic review of the literature on surgical treatment of chronic rhinosinusitis in children: what is the best approach?
Conclusions: Surgical treatment should be indicated for chronic rhinosinusitis in childhood after treatment failure. The results pointed out that adenoidectomy, when associated with some type of approach to the facial sinus, present better results.RESUMO Objetivo: Realizar uma revis ão sistemática da literatura sobre o tratamento cirúrgico da rinossinusite crônica na população pediátrica. Fonte de dados: Utilizou-se metodologia de revisão bibliográfica, por meio de levantamentos nas bases de dados científicas National Library of Medicine (Medline), PubMed, Literatura Latino-americana e do Caribe em Ciências d...
Source: Revista Paulista de Pediatria - January 13, 2020 Category: Pediatrics Source Type: research

Events associated with the occurrence of intracranial hypertension in pediatric patients with severe cranioencephalic trauma and monitoring of intracranial pressure
Conclusions: Pediatric patients with severe cranioencephalic trauma and tomographic alterations of Marshall III and IV presented a high chance of developing ICH.RESUMO Objetivo: Determinar eventos associados à ocorrência de hipertensão intracraniana (HIC) em pacientes pediátricos com traumatismo cranioencefálico grave. Métodos: Trata-se de coorte prospectiva de pacientes de até 18 anos, com traumatismo cranioencefálico, pontuação abaixo de nove na Escala de Coma de Glasgow e monitoração da pressão intracraniana, admitidos entre setembro de 2005 e março de 2014 em unidade de terapia intensiva pediátrica. A ...
Source: Revista Paulista de Pediatria - January 13, 2020 Category: Pediatrics Source Type: research

Pre- and perinatal factors associated with weight gain among preschool children enrolled at day care centers
Conclusions: Inadequate prenatal (appointments) and perinatal care (mother-infant rooming-in and absence of breastfeeding) were associated with excessive weight gain among low-income preschool children.RESUMO Objetivo: Identificar fatores associados com o ganho ponderal excessivo entre pr é-escolares de Centros de Educação Infantil (CEIs) em uma capital do Nordeste brasileiro. Métodos: Estudo transversal realizado em cinco CEIs situados no distrito de maior vulnerabilidade socioeconômica do município. Foram incluídas 326 crianças de ambos os sexos, com idades entre 17 e 63 m eses. A variável dependente foi a evo...
Source: Revista Paulista de Pediatria - January 13, 2020 Category: Pediatrics Source Type: research

Outpatient analytic assessment of anorexia nervosa — the importance of venous blood gases
Conclusions: Respiratory acidosis and increased ferritin were common in this group. Respiratory acidosis was the most frequent abnormality with significant pCO2 and HCO3 variation in the recovery phase. VBG should be considered in AN evaluation, once it seems to be important in assessing the severity of the disease and its subsequent follow-up.RESUMO Objetivo: Avaliar a evolu ção laboratorial, particularmente da gasometria venosa, na anorexia nervosa (AN), correlacionando os achados com parâmetros clínicos. Métodos: Estudo retrospetivo com adolescentes com AN seguidos em ambulatório, entre janeiro de 2014 e maio d...
Source: Revista Paulista de Pediatria - January 13, 2020 Category: Pediatrics Source Type: research

Translation, cultural adaptation, and evidence of instrument validity for a morphological examination performed in children with autism spectrum disorder
Conclusions: The translated instrument meets all international criteria, and minor anomalies and their clinical descriptions were standardized and are recognizable for physicians not specialized in genetics.RESUMO Objetivo: Entre 100 crian ças, não selecionadas, com diagnóstico de autismo, pelo menos 20 apresentam anomalias morfológicas, quase sempre associadas a síndromes. Não há no Brasil instrumento de exame físico morfológico padronizado e validado. O objetivo foi traduzir para o português do Brasil e adaptar culturalmen te os sinais clínicos descritos no Autism Dysmorphology Measure, assim como procurar ev...
Source: Revista Paulista de Pediatria - January 13, 2020 Category: Pediatrics Source Type: research

How can new technologies help reduce absenteeism in pediatric consultation?
Conclusions: Using new tools, such as WhatsApp, to remind guardians of appointments reduces absenteeism. Consequently, it may lead to a reduction in abandoning treatment and it may improvetreatment outcome of children with a tuberculosis infection or disease.RESUMO Objetivo: Identificar a forma mais efetiva de contato, como possibilidade de interven ção, para diminuir o absenteísmo em consultas de crianças com suspeita ou com tuberculose pulmonar. Métodos: Ensaio clínico randomizado com coleta de dados prospectiva, entre março de 2017 e fevereiro de 2018. Os pacientes foram aleatorizados em três grupos para relem...
Source: Revista Paulista de Pediatria - January 13, 2020 Category: Pediatrics Source Type: research

Translation and cultural adaptation of the mediterranean diet quality index in children and adolescents
Conclusions: The KIDMED questionnaire was translated into Brazilian Portuguese and culturally adapted, pr esenting high reproducibility. This questionnaire can, therefore, be included and used in Brazilian studies that aim at evaluating the adherence to the Mediterranean diet among children and adolescents.RESUMO Objetivo: Traduzir e adaptar culturalmente a escala do Mediterranean Diet Quality Index in Children and Adolescent (KIDMED) para a popula ção brasileira. Métodos: Os processos de tradução e adaptação cultural seguiram normas metodológicas padronizadas internacionalmente. A reprodutibilidade foi avaliada ...
Source: Revista Paulista de Pediatria - January 13, 2020 Category: Pediatrics Source Type: research