Molecular analysis and association with clinical and laboratory manifestations in children with sickle cell anemia

Objectives: To analyze the frequency of βS-globin haplotypes and alpha-thalassemia, and their influence on clinical manifestations and the hematological profile of children with sickle cell anemia.Method: The frequency of βS-globin haplotypes and alpha-thalassemia and any association with clinical and laboratorial manifestations were determined in 117 sickle cell anemia children aged 3–71 months. The confirmation of hemoglobin SS and determination of the haplotypes were achieved by polymerase chain reaction-restriction fragment length polymorphism, and alpha-thalassemia genotyping was by multiplex polymerase chain reaction (single-tube multiplex-polymerase chain reaction).Results: The genotype distribution of haplotypes was 43 (36.7%) Central African Republic/Benin, 41 (35.0%) Central African Republic/Central African Republic, 20 (17.0%) Rare/atypical, and 13 (11.1%) Benin/Benin. The frequency of the α3.7 deletion was 1.71% as homozygous (−α3.7/−α3.7) and 11.9% as heterozygous (−α3.7/αα). The only significant association in respect to haplotypes was related to the mean corpuscular volume. The presence of alpha-thalassemia was significantly associated to decreases in mean corpuscular volume, mean corpuscular hemoglobin and reticulocyte count and to an increase in the red blood cell count. There were no significant associations of βS-globin haplotypes and alpha-thalassemia with clinical manifestations.Conclusions: In the study population, the frequency of alpha-thalassemia was similar to published data in Brazil with the Central African Republic haplotype being the most common, followed by the Benin haplotype. βS-globin haplotypes and interaction between alpha-thalassemia and sickle cell anemia did not influence fetal hemoglobin concentrations or the number of clinical manifestations.Universidade Federal de São Paulo (UNIFESP)UNIFESPSciEL

Hemoglobin sickle cell disease in Brazil

Universidade Federal de São Paulo, Escola Paulista Med, São Paulo, BrazilUniversidade Federal de São Paulo, Escola Paulista Med, São Paulo, BrazilWeb of Scienc

Giardia lamblia and respiratory allergies: a study of children from an urban area with a high incidence of protozoan infections

OBJECTIVES: There is a high incidence of intestinal parasite infection in urban areas in the Northeast of Brazil. Giardia lamblia infections have been associated with increased prevalence of cutaneous allergies and gastrointestinal disorders. However, little is known about the relationship between giardiasis and allergic diseases of the airways. The present study aimed to investigate the possible association between respiratory allergic diseases and infections by G. lamblia in children from urban areas. METHODS: This study recruited 110 patients of both sexes aged 5-15 years. Patients were administered a questionnaire evaluating clinical symptoms and were given skin tests, parasite tests and serum tests. RESULTS: A high incidence of G. lamblia was observed (45%, 50/110). Infections by this protozoan were not associated with increased risk of respiratory allergy (p = 0.075), high total IgE levels (p = 0.701), positive specific IgE tests (p = 0.250), or positive skin tests for a range of environmental allergens (p = 0.239). CONCLUSION: This study demonstrated that symptoms of asthma, skin allergy and serum markers were not associated with G. lamblia infections in this sample of children from urban areas.OBJETIVO: Uma elevada incidência de enteroparasitoses é encontrada em regiões urbanas do nordeste brasileiro. As infecções por Giardia lamblia têm sido relacionadas com aumento da prevalência de alergias cutâneas e gastrointestinais. Contudo, ainda existe pouca informação sobre a associação entre a giardíase e doenças alérgicas das vias aéreas. Diante disso, o presente estudo se propôs a verificar a relação entre a infecção por G. lamblia em crianças de área urbana e reatividade alérgica respiratória. MÉTODOS: O estudo incluiu 110 pacientes, de ambos os sexos e idades, entre 5 e 15 anos. Os pacientes foram submetidos a questionários de avaliação dos sintomas clínicos, testes cutâneos de leitura imediata e exames coproparasitológicos e sorológicos. RESULTADOS: Foi verificada uma frequência elevada de crianças infectadas por G. lamblia (45%, 50/110). A infecção pelo protozoário não foi associada com maior risco de alergias respiratórias (p = 0,075), elevação de IgE total (p = 0,701), IgE específica (p = 0,250) ou teste cutâneo positivo para diferentes alérgenos ambientais (p = 0,239). CONCLUSÃO: O estudo demonstrou que a presença dos sintomas de asma, atopia cutânea e marcadores sorológicos não foram associados com a presença de infecção pela G. lamblia nessa amostra de crianças.Ministério da Saúde (Governo Federal do Brasil)Ministério da Ciência e e Tecnologia (Governo Federal do Brasil)Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)Universidade Federal de Pernambuco Laboratório de Imunopatologia Keizo AsamiUFPE Laboratório de Imunopatologia Keizo AsamiUFPE Hospital das Cínicas ImunologiaUFPE Hospital das Clínicas ImunologiaUFPE Hospital das ClínicasUniversidade Federal de São Paulo (UNIFESP) Pediatria e Ciências AplicadasUNIFESP Imunologia Clínica e Reumatologia Pediatria e Ciências Aplicadas PediatriaUFPEUFPE Programa de Pós-graduação em Ciências da SaúdeUNIFESP, Pediatria e Ciências AplicadasUNIFESP, Imunologia Clínica e Reumatologia Pediatria e Ciências Aplicadas PediatriaCNPq: 402666/2005-4SciEL

Padrao alimentar e estado nutricional de criancas com paralisia cerebral

OBJECTIVESTo assess the food intake pattern and the nutritional status of children with cerebral palsy.METHODSCross-sectional study with 90 children from two to 12.8 years with cerebral palsy in the following forms: hemiplegia, diplegia, and tetraplegia. Nutritional status was assessed by weight, height, and age data. Food intake was verified by the 24-hour recall and food frequency questionnaire. The ability to chew and/or swallowing, intestinal habits, and physical activity were also evaluated.RESULTSFor 2-3 year-old age group, the mean energy intake followed the recommended range; in 4-6 year-old age group with hemiplegia and tetraplegia, energy intake was below the recommended limits. All children presented low intake of carbohydrates, adequate intake of proteins and high intake of lipids. The tetraplegia group had a higher prevalence of chewing (41%) and swallowing (12.8%) difficulties compared to 14.5 and 6.6% of children with hemiplegia, respectively. Most children of all groups had a daily intestinal habit. All children presented mild physical activity, while moderate activity was not practiced by any child of the tetraplegia group, which had a significantly lower height/age Z score than those with hemiplegia (-2.14 versus -1.05; p=0.003).CONCLUSIONSThe children with cerebral palsy presented inadequate dietary pattern and impaired nutritional status, with special compromise of height. Tetraplegia imposes difficulties regarding chewing/swallowing and moderate physical activity practice.OBJETIVOEvaluar el estándar alimentar y estado nutricional de niños con parálisis cerebral.MÉTODOSEstudio transversal con 90 niños de 2 a 12,8 años de edad, con parálisis cerebral de tipo hemiplejía, diplejía y tetraplejía. Se evaluaron el estado nutricional por medio de los datos de peso, altura y edad, el consumo alimentar por el Recordatorio de 24 horas y por el Cuestionario de Frecuencia Alimentar, la capacidad de masticar y/o deglutir, el hábito intestinal y la práctica de actividad física.RESULTADOSEn el grupo de 2 a 3 años, el promedio de ingestión energética estaba conforme a la recomendación; en la franja de 4 a 6 años, los grupos con hemiplejía y con tetraplejía presentaban promedios inferiores al límite inferior de recomendación. El grupo como un todo presentó estándar dietético bajo en carbohidratos, adecuado en proteínas y alto en lípidos. El grupo con tetraplejía presentó mayor prevalencia de dificultad para masticación (41%) y deglución (12,8%), versus, respectivamente, 14,5 y 6,6% de los niños con hemiplejía. Se observó que la mayoría de los niños con cada tipo de parálisis cerebral presentaba hábito intestinal diario. Todos los niños estudiados tenían actividad física liviana, mientras que la actividad moderada no era practicada por ningún niño del grupo tetraplejía, que también presentó escore Z de -2,14 de la relación estatura/edad, significantemente menor respecto al grupo con hemiplejía (escore Z de -1,05; p=0,003).CONCLUSIONESLos niños presentaron estándar alimentar inadecuado, estado nutricional comprometido, principalmente la estatura. La tetraplejía impone dificultades de masticación/deglución y práctica de actividad física moderada.OBJETIVOAvaliar o padrão alimentar e o estado nutricional de crianças com paralisia cerebral.MÉTODOSEstudo transversal com 90 crianças de dois a 12,8 anos de idade, com paralisia cerebral do tipo hemiplegia, diplegia e tetraplegia. Avaliaram-se o estado nutricional por meio dos dados de peso, altura e idade, o consumo alimentar pelo Recordatório de 24 horas e pelo Questionário de Frequência Alimentar, a capacidade de mastigar e/ou deglutir, o hábito intestinal e a prática de atividade física.RESULTADOSNo grupo de dois a três anos, a média de ingestão energética estava de acordo com a recomendação; na faixa de quatro a seis anos, os grupos com hemiplegia e com tetraplegia apresentaram médias abaixo do limite inferior da recomendação. O grupo como um todo apresentou padrão dietético baixo em carboidratos, adequado em proteína e alto em lipídios. O grupo com tetraplegia apresentou maior prevalência de dificuldade para mastigação (41%) e para deglutição (12,8%) versus, respectivamente, 14,5 e 6,6% das crianças com hemiplegia. Observou-se que a maioria das crianças com cada tipo de paralisia cerebral apresentava hábito intestinal diário. Todas as crianças estudadas tinham atividade física leve, enquanto a atividade moderada não era praticada por nenhuma criança do grupo com tetraplegia, que também apresentou escore Z de -2,14 da relação estatura/idade, significantemente menor em relação ao grupo com hemiplegia (escore Z de -1,05; p=0,003).CONCLUSÕESAs crianças apresentaram padrão alimentar inadequado, estado nutricional comprometido, o que afetou principalmente a estatura. A tetraplegia impõe dificuldade de mastigação/deglutição e da prática de atividade física moderada.Universidade Federal de São Paulo (UNIFESP) Escola Paulista de Medicina Departamento de PediatriaUniversidade Federal de São Paulo (UNIFESP), Escola Paulista de Medicina (EPM) Departamento de PediatriaUNIFESP, EPM, Depto. de PediatriaUNIFESP, EPM, Depto. de PediatriaSciEL

Prevalence of HIV-1 transmitted drug resistance and viral suppression among recently diagnosed adults in Sao Paulo, Brazil

HIV-1 transmitted drug resistance (TDR) mutations may reduce the efficacy of antiretroviral therapy (ART), but pre-treatment testing to determine the virus genotype can improve the efficacy of ART. Unfortunately, issues related to cost and logistics of pre-treatment testing limit its use in resource-limited settings. We studied 596 ART-naive individuals who were newly diagnosed from 2014 to 2016 in SAo Paulo, Brazil, to evaluate TDR and virological outcome after 48weeks of genotype-guided therapy. One or more TDR (based on the WHO surveillance list) was observed in 10.9% (CI 95%, 8.6-13.6) of the sequences, the most common of which was the K103N mutation, which confers resistance to first-generation drugs of the non-nucleoside reverse transcriptase inhibitor (NNRTI) antiretroviral drug class. Dual-class (1%, 6/596) and triple-class (0.34%, 2/596) resistance were uncommon. After 48weeks of treatment with ART, infection was suppressed to below 200 copies/mL in most patients (95%), with full suppression (RNA target not detected) in 65%. The following characteristics at patient enrollment were independently associated with a lack of full suppression: CD4 T cell counts below 500 cells/mu L, viremia above 100,000 copies/mL, older age, and TDR to NNRTI. The rates of resistance were intermediate, but genotype-guided therapy resulted in high rates of viral suppression. The observed resistance profile should not be an obstacle to the use of the dolutegravir-based regimen now recommended in Brazil, but genotype testing may be warranted before initiating first-generation NNRTI-based regimens1643699706FAPESP – Fundação de Amparo à Pesquisa Do Estado De São Paulo2013/19441-7; 2016/14813-