Health-related quality of life in paediatric asthma: Children's and parents' perspectives.

This study aimed to describe the quality of life of a group of Portuguese children with asthma, to explore the association between health-related quality of life (HRQL), asthma severity, child's characteristics and parental psychopathology. Additionally, the concordance between the children's HRQL self-report and the parents' HRQL proxy was assessed. Fifty children with asthma (7-13 years) and their primary caregiver participated in the study by filling out the DISABKIDS-37 and other self-report questionnaires. Results for the DISABKIDS-37 supported a good internal consistency and associations between the facets and the global score, in the two versions of the questionnaire. Children and their caregivers scored the child's HRQL positively. Parents of children with an asthma diagnosis for a longer period reported better HRQL. The distribution of the HRQL scores in the child's version showed differences across categories of subjective severity rated by children and across categories of asthma control assessed by the physician. The group with uncontrolled asthma obtained lower HRQL scores than the other groups. There was a lack of convergence between self-report and parent's report of HRQL, with the exception of the physical limitation facet. Asthma severity assessed by the child and parental psychopathology explained 28% of the variance in the children's self-rated HRQL. Findings reinforce that children and caregivers' reports are complementary to each other and support the recommendation to use both information sources.

Effect of the addition of chia's by-product on the composition of fatty acids in hamburgers through chemometric methods.

BACKGROUND: Hamburger is a meat-based food that is easy to prepare and is widely consumed. It can be enriched using different ingredients, such as chia's by-product, which is rich in omega-3. Chemometrics is a very interesting tool to assess the influence of ingredients in the composition of foods. A complete factorial design 2(2) (two factors in two levels) with duplicate was performed to investigate the influence of the factors (1) concentration of textured soy proteins (TSP) and (2) concentration of chia flour partially defatted (CFPD) as a partial replacement for the bovine meat and porcine fat mix in hamburgers. RESULTS: The results of proximal composition, lipid oxidation, fatty acids sums, ratios, and nutritional indexes were used to propose statistical models. The factors TSP and CFPD were significant, and the increased values contributed to improve the composition in fatty acids, crude protein, and ash. Principal components analysis distinguished the samples with a higher content of chia. In desirability analysis, the highest level of TSP and CFPD was described as the optimal region, and it was not necessary to make another experimental point. CONCLUSION: The addition of chia's by-product is an alternative to increase the α-linolenic contents and to obtain nutritionally balanced food.

Real-Time Genomic Surveillance during the 2021 Re-Emergence of the Yellow Fever Virus in Rio Grande do Sul State, Brazil.

The 2021 re-emergence of yellow fever in non-human primates in the state of Rio Grande do Sul (RS), southernmost Brazil, resulted in the death of many howler monkeys (genus Alouatta) and led the state to declare a Public Health Emergency of State Importance, despite no human cases reported. In this study, near-complete genomes of yellow fever virus (YFV) recovered from the outbreak were sequenced and examined aiming at a better understanding of the phylogenetic relationships and the spatio-temporal dynamics of the virus distribution. Our results suggest that the most likely sequence of events involved the reintroduction of YFV from the state of São Paulo to RS through the states of Paraná and Santa Catarina, by the end of 2020. These findings reinforce the role of genomic surveillance in determining the pathways of distribution of the virus and in providing references for the implementation of preventive measures for populations in high risk areas.

Cystic Fibrosis: A Simple and Customized Strategy for Genetic Screening Able to Detect Over 90% of Identified Mutated Alleles in Brazilian Newborns.

INTRODUCTION: The incorporation of molecular genetic testing into cystic fibrosis (CF) screening programs increases the specificity of the diagnostic strategy and has the potential to decrease the rate of false- positive results. In this sense, our objective was to develop a genotyping assay that could detect 25 pathogenic variants in the cystic fibrosis transmembrane conductance regulator (CFTR) gene with high sensitivity and that could be incorporated into the routine of newborn screening, complementing the current existing protocol used in our public health institution. METHODS: A mini-sequencing assay was standardized using single-base extension in a previously genotyped control sample. This strategy was validated in a Brazilian cohort of CF patients by Sanger sequencing. RESULTS: The inclusion of the 25 variants in the current newborn screening program increased the identification rates of two alleles from 33 to 52.43% in CF patients. This new approach was able to detect a total of 37 variants, which represents 93.01% of all mutated alleles described in the last CF Brazilian Register. CONCLUSIONS: Mini-sequencing for the simultaneous detection of 25 CFTR gene variants improves the screening of Brazilian newborns and decreases the number of inconclusive cases. This method uses minimal hands-on time and is suited for rapid screening, which reduces sample processing costs.

Reporting and methodological quality of clinical trials on exercise therapy for Parkinson's disease.

BACKGROUND: Exercise therapy is becoming extremely relevant as a new efficacious intervention in multiple medical fields. Although several clinical trials have reported benefits of exercise therapy for Parkinson's disease (PD), recommendations and prescriptions for its use in clinical practice remain limited. OBJECTIVES: To evaluate the methodological quality and publication rate of clinical trials on exercise therapy for PD. METHODS: We analyzed all clinical trials assessing exercise therapy for PD registered in the WHO International Clinical Trials Registry Platform and the ClinicalTrials.gov registries, from 2000 to 2017. We evaluated the methodological quality of trials using the Cochrane Risk of Bias criteria. RESULTS: A total of 236 clinical trials were identified. Only 70 (29.7%) trials reported their findings, and 61 (25.8%) had results published in scientific journals. Most trials had an unclear risk of bias concerning incomplete and selective outcome reporting and lacked data on the randomization process, allocation concealment, blinding of participants and personnel, and outcomes assessors. Aerobic capacity was the most frequent type of exercise intervention. CONCLUSIONS: Although a large number of trials on exercise are registered in international portals, the quality of reporting remains suboptimal and only a quarter of trials have their results published in scientific journals. These two factors, in addition to the heterogeneity of the interventions tested and the unsatisfactory reported methodological quality of most trials, compromise the interpretation of study results. Therefore, higher quality clinical trials reports are needed to establish exercise as part of the PD armamentarium.

Clinical and molecular profile of newborns with confirmed or suspicious congenital adrenal hyperplasia detected after a public screening program implementation.

OBJECTIVE: To describe the results obtained in a neonatal screening program after its implementation and to assess the clinical and molecular profiles of confirmed and suspicious congenital adrenal hyperplasia cases. METHODS: A cross-sectional study was conducted. Newborns with suspected disease due to high 17-hydroxyprogesterone levels and adjusted for birth weight were selected. Classical congenital adrenal hyperplasia (salt-wasting and simple virilizing forms) was diagnosed by an increase in 17-hydroxyprogesterone levels as confirmed in the retest, clinical evaluation, and genotype determined by SNaPshot and multiplex ligation-dependent probe amplification. RESULTS: After 24 months, 15 classic congenital adrenal hyperplasia cases were diagnosed in a total of 217,965 newborns, with an estimated incidence of 1:14,531. From 132 patients, seven non-classical and 14 heterozygous patients were screened for CYP21A2 mutations, and 96 patients presented false positives with wild type CYP21A2. On retest, increased 17-hydroxyprogesterone levels were found in classical congenital adrenal hyperplasia patients and showed significant correlation with genotype-related classical genital adrenal hyperplasia. The most frequent mutations were IVS2-13A/C>G followed by gene deletion or rearrangement events in the classical form. In non-classical and heterozygous diseases, p.Val282Leu was the most common mutation. CONCLUSIONS: The results underscore the effectiveness of congenital adrenal hyperplasia neonatal screening in the public health system and indicate that the adopted strategy was appropriate. The second sample collection along with genotyping of suspected cases helped to properly diagnose both severe and milder cases and delineate them from false positive patients.

Yeasts associated with fresh and frozen pulps of Brazilian tropical fruits.

The occurrence of yeasts on ripe fruits and frozen pulps of pitanga (Eugenia uniflora L), mangaba (Hancornia speciosa Gom.), umbu (Spondias tuberosa Avr. Cam.), and acerola (Malpighia glaba L) was verified. The incidence of proteolytic, pectinolytic, and mycocinogenic yeasts on these communities was also determined. A total of 480 colonies was isolated and grouped in 405 different strains. These corresponded to 42 ascomycetous and 28 basidiomycetous species. Candida sorbosivorans, Pseudozyma antarctica, C. spandovensis-like, C. spandovensis, Kloeckera apis, C. parapsilosis, Rhodotorula graminis, Kluyveromyces marxianus, Cryptococcus laurentii, Metchnikowia sp (isolated only from pitanga ripe fruits), Issatchenkia occidentalis and C. krusei (isolated only from mangaba frozen pulps), were the most frequent species. The yeast communities from pitanga ripe fruits exhibited the highest frequency of species, followed by communities from acerola ripe fruits and mangaba frozen pulps. Yeast communities from frozen pulp and ripe fruits of umbu had the lowest number of species. Except the yeasts from pitanga, yeast communities from frozen pulp exhibited higher number of yeasts than ripe fruit communities. Mycocinogenic yeasts were found in all of the substrates studied except in communities from umbu ripe fruits and pitanga frozen pulps. Most of the yeasts found to produce mycocins were basidiomycetes and included P. antarctica, Cryptococcus albidus, C. bhutanensis-like, R. graminis and R. mucilaginosa-like from pitanga ripe fruits as well as black yeasts from pitanga and acerola ripe fruits. The umbu frozen pulps community had the highest frequency of proteolytic species. Yeasts able to hydrolyse casein at pH 5.0 represented 38.5% of the species isolated. Thirty-seven percent of yeast isolates were able to hydrolyse casein at pH 7.0. Pectinolytic yeasts were found in all of the communities studied, excepted for those of umbu frozen pulps. The highest frequency of pectinolytic activity was found in mangaba frozen pulp communities. Around 30% of all isolates produced pectinases. The ability to split arbutin was observed in all communities ranging from 8% in yeasts from pitanga frozen pulps to 40.6% in acerola ripe fruit communities. Among 432 species tested, 125 were active for beta-glucosidase production, and Kloeckera apis, P. antarctica, C. sorbosivorans, and C. spandovensis-like were the most active species.

Epidermolysis bullosa acquisita in childhood.

Epidermolysis bullosa acquisita (EBA) is a subepidermal autoimmune blistering disease that is rarely reported in childhood. We describe a nine-month-old mulatto boy presenting with multiple, annular, widespread, tense blisters and oral lesions. The diagnosis of EBA was confirmed by histopathology, immunofluorescence, and immunoblotting analysis. The patient was successfully treated with systemic steroids (prednisone) and dapsone. After 20 months of initial treatment, clinical remission was observed, and dapsone remains as the current treatment. This case report emphasizes the rarity of EBA in childhood and the difficulties in reaching the final diagnosis.

[Occurrence of Haemophylus influenzae B meningitis after the implementation of a mass vaccination program]. / Meningites por Haemophilus influenzae B após a implantação da vacina específica.

OBJECTIVE: To evaluate the incidence of Hib meningitis before and after the implementation of a vaccination program in the state of Rio Grande do Sul State, southern Brazil, in 1999. METHODS: This retrospective study summarizes all data concerning Hib meningitis recorded by the state of Rio Grande do Sul Department of Health/Acute Communicable Disease Surveillance Agency between 1995 and 2001. All data were analyzed using the chi-square test (statistical significance: p < 0.005). RESULTS: The decline in the number of cases of Hib meningitis was associated with the Hib vaccine coverage in children. From 1995 to 2001 the incidence of Hib meningitis decreased 89% (from 1.35 cases/100,000 people in 1995 to 0.15 cases/100,000 in 2001 (p < 0.01), especially in children younger than 1 year (p < 0.005). In the same period, Hib meningitis lethality decreased from 17.8 to 6.7 % (p < 0.01). CONCLUSIONS: The implementation of an Hib meningitis vaccination program has nearly eliminated Hib meningitis in the state of Rio Grande do Sul. These findings underscore the need to maintain the vaccination in children, with a thorough investigation of suspected cases and reporting of confirmed cases.

Comparison of urine and self-collected vaginal samples for detecting human papillomavirus DNA in pregnant women.

OBJECTIVE: To investigate the utility of urine sampling for detecting human papillomavirus (HPV) DNA among pregnant women and to compare HPV DNA detection in urine with detection in vaginal samples. METHODS: In a cross-sectional study, urine and vaginal samples were self-collected from pregnant women attending prenatal care at Hospital Divina Providencia, Frederico Westphalen, Brazil, between October 2006 and August 2007. Part of the L1 region of the HPV genome was amplified via GP5(+)/bioGP6(+) primers. Positive urine was genotyped for high-risk HPV genotypes (HPV16, HPV18, HPV31, HPV33, HPV39, HPV45, and HPV59). RESULTS: During the study period, urine samples were obtained from 133 pregnant women, 63 of whom also self-collected vaginal samples. HPV DNA was detected in 54.0% (34/63) and 61.9% (39/63) of urine and vaginal samples, respectively. HPV infection was significantly associated with first intercourse at younger than 20 years of age (P=0.008). There was substantial agreement in HPV DNA test results between the urine and vaginal samples (κ value, 77.3%; P<0.0001). HPV31 and HPV16 accounted for 80.7% of the oncogenic types identified. CONCLUSION: Detection of HPV DNA in urine showed good agreement with detection in self-collected vaginal samples, indicating that urine might be a reliable sample for HPV testing among pregnant women.

Clinical and molecular profile of newborns with confirmed or suspicious congenital adrenal hyperplasia detected after a public screening program implementation / Perfil clínico e molecular de recém-nascidos com suspeita ou confirmação de hiperplasia adrenal congênita após a implementação de um programa público de triagem neonatal

Abstract Objective: To describe the results obtained in a neonatal screening program after its implementation and to assess the clinical and molecular profiles of confirmed and suspicious congenital adrenal hyperplasia cases. Methods: A cross-sectional study was conducted. Newborns with suspected disease due to high 17-hydroxyprogesterone levels and adjusted for birth weight were selected. Classical congenital adrenal hyperplasia (salt-wasting and simple virilizing forms) was diagnosed by an increase in 17-hydroxyprogesterone levels as confirmed in the retest, clinical evaluation, and genotype determined by SNaPshot and multiplex ligation-dependent probe amplification. Results: After 24 months, 15 classic congenital adrenal hyperplasia cases were diagnosed in a total of 217,965 newborns, with an estimated incidence of 1:14,531. From 132 patients, seven non-classical and 14 heterozygous patients were screened for CYP21A2 mutations, and 96 patients presented false positives with wild type CYP21A2. On retest, increased 17-hydroxyprogesterone levels were found in classical congenital adrenal hyperplasia patients and showed significant correlation with genotype-related classical genital adrenal hyperplasia. The most frequent mutations were IVS2-13A/C>G followed by gene deletion or rearrangement events in the classical form. In non-classical and heterozygous diseases, p.Val282Leu was the most common mutation. Conclusions: The results underscore the effectiveness of congenital adrenal hyperplasia neonatal screening in the public health system and indicate that the adopted strategy was appropriate. The second sample collection along with genotyping of suspected cases helped to properly diagnose both severe and milder cases and delineate them from false positive patients.

Resumo Objetivo: Descrever os resultados obtidos em um programa de triagem neonatal após sua implementação e avaliar os perfis clínicos e moleculares de casos confirmados e suspeitos de hiperplasia adrenal congênita. Métodos: Foi feito um estudo transversal. Recém-nascidos com suspeita da doença devido aos altos níveis de 17-alfa-hidroxiprogesterona e ajustados pelo peso ao nascer foram selecionados. A hiperplasia adrenal congênita clássica (forma perdedora de sal e forma virilizante simples) foi diagnosticada por um aumento nos níveis de 17-alfa-hidroxiprogesterona confirmado no reteste, avaliação clínica e genótipo determinado com o uso do ensaio SNaPshot e amplificação multiplex de sondas dependente de ligação. Resultados: Após 24 meses, 15 casos clássicos de hiperplasia adrenal congênita foram diagnosticados em 217.965 recém-nascidos, com uma incidência estimada de 1:14.531. De 132 pacientes, sete não clássicos e 14 heterozigotos foram submetidos à triagem para mutações no gene CYP21A2 e 96 pacientes apresentaram resultados falso-positivos com CYP21A2 do tipo selvagem. No reteste, níveis aumentados de 17-alfa-hidroxiprogesterona foram encontrados em pacientes com hiperplasia adrenal congênita clássica e mostraram correlação significativa com HAC clássica relacionada ao genótipo. As mutações mais frequentes foram IVS2-13A/C>G, seguidas de deleção gênica ou eventos de rearranjo na forma clássica. Em casos de doenças não clássicas e heterozigose, a mutação p.Val282Leu foi a mais comum. Conclusões: Os resultados ressaltam a eficácia da triagem neonatal para a hiperplasia adrenal congênita no sistema público de saúde e indicam que a estratégia adotada foi adequada. A segunda coleta de amostras, juntamente com a genotipagem dos casos suspeitos, ajudou a diagnosticar adequadamente os casos graves e mais leves e diferenciá-los de pacientes com resultado falso-positivo.

Meningites por Haemophilus influenzae b após a implantaçäo da vacina específica / Occurrence of Haemophylus influenzae b meningitis after the implementation of a mass vaccination program

OBJETIVO: Avaliar a incidência de meningite por Hib antes e após a introduçäo da vacinaçäo de rotina contra esse agente no Rio Grande do Sul em 1999. MÉTODOS: Este estudo retrospectivo representa todos os dados sobre meningites por Hib investigados pela Coordenaçäo do Controle de Doenças Transmissíveis Agudas (CCDTA - sistema de vigilância) da Secretaria da Saúde do Rio Grande do Sul entre 1995 e 2001. Todos os dados foram analisados usando o teste de qui-quadrado, com p < 0,05 sendo considerado estatisticamente significativo. RESULTADOS: A diminuiçäo dos casos de meningites por Hib esteve associada com a realizaçäo da vacinaçäo em larga escala contra Hib na infância. De 1995 a 2001, a incidência das meningites por Hib diminuiu 89 por cento: de 1,35 casos/100.000 habitantes em 1995 para 0,15 casos/100.000 em 2001 (p < 0,01), especialmente em crianças menores de um ano (p < 0,005). No mesmo período, a letalidade das meningites por Hib diminuiu de 17,8 por cento para 6,7 por cento (p < 0,01). CONCLUSÕES: A introduçäo do programa de vacinaçäo contra Hib resultou na quase eliminaçäo das meningites por Hib no Rio Grande do Sul. Esses achados reforçam a necessidade de manter a vacinaçäo apropriada na infância, com a investigaçäo completa e a comunicaçäo dos casos meningites por Hib

Hemangioma gigante tratado com Interferon Alfa-2a / Giant hemangioma treated with interferon alpha-2a

Objetivo: Os autores descrevem um caso de hemangioma gigante na infância tratado com interferon alfa-2a e fazem a revisäo da literatura pertinente ao uso dessa droga e de outras modalidades terapêuticas nesse tipo de lesäo vascular. Métodos: Uma criança de sete meses de idade, portadora de hemangioma gigante complicado com anemia persistente, hemorragias e infecçöes de repetiçäo, foi tratada com interferon alfa-2a. A dose utilizada foi de 3 milhöes de unidades/m2/dia, por via subcutânea, durante um período de nove meses. Resultados: A paciente apresentou uma excelente resposta ao tratamento instituído, com regressäo de cerca de 90 por cento da lesäo, controle da anemia, infecçöes e hemorragias, e retomada do crescimento. Näo foram detectados efeitos colaterais...

Piebaldismo: relato de dois casos / Piebaldism: report of two cases

Os autores apresentam dois casos de piebaldismo (mäe e filho) e destacam os recentes trabalhos que elucidam as bases moleculares da patogênese da entidade.