Predictive factors for the diagnosis of permanent congenital hypothyroidism and its temporal changes in Sergipe, Brazil - A real-life retrospective study

ABSTRACT Objectives: Congenital hypothyroidism (CH) can be permanent (PCH) or transient (TCH). While the importance of thyroxine in myelination of the brain is undisputed, the benefits to neurodevelopmental outcomes of TCH treatment are controversial. Our objectives were to determine predictive factors for PCH and verify its prevalence changes over time. Subjects and methods: A total of 165 children were evaluated at 3 years of age to verify the diagnosis of PCH. 130 were submitted to a two-step cluster analysis, with the aim of grouping them into homogeneous clusters. The mean incidence of PCH and TCH was calculated from 2004 to 2010 and 2011 to 2015. Results: Sixty-six children were diagnosed with PCH, and 99 were diagnosed with TCH. Eighty-one percent of PCH children and all TCH children with thyroid imaging had glands in situ. Eighty children (61.5%) were in Cluster 1, 8 children (6.2%) were in Cluster 2 and 42 children (32.3%) were in Cluster 3. No children had PCH in Cluster 1, while 87.5% of children in Cluster 2 and all children in Cluster 3 had PCH. The most important predictor for PCH was the initial serum TSH, which was marginally higher in importance than the blood spot TSH, followed by the initial serum free T4. The mean incidence of PCH (odds ratio: 1.95, 95% CI 1.36 to 2.95, p < 0.0001) and TCH (odds ratio 1.33, 95%, CI 1.02 to 1.77, p = 0,038) increased over time. Conclusions: The most important PCH predictors are the initial serum TSH and the blood spot TSH. The mean incidence of both PCH and TCH in our series increased.

Art and science: impact of semioccluded vocal tract exercises and choral singing on quality of life in subjects with congenital GH deficiency

ABSTRACT Objectives: Currently, not much is known about the interactions between voice and growth hormone (GH). We have described large kindred with isolated GH deficiency (IGHD) due to a GHRH receptor mutation, resulting in severe short stature and high-pitched voice. These IGHD individuals have little interest in GH treatment, as they consider themselves "short long-lived people", rather than patients. Interestingly, they report normal general quality of life, but they rate their Voice-Related Quality of Life (V-RQOL) as low. Here, we assessed the social and auditory-perceptual impacts of artistic-intervention voice therapy with semioccluded vocal tract exercises (SOVTE) and choral singing, on their voices. Material and methods: Seventeen GH-naïve adult IGHD individuals were enrolled in a single-arm interventional pre-post study with 13 weekly sessions of choir singing over 90 days. Outcome measures were V-RQOL scores, self-assessment of voice, and auditory-perceptual analysis (GRBAS scale, G: grade of the severity of dysphonia; R: roughness; B: breathiness; A: asthenia; and S: strain). Results: Marked improvements in total (p = 0.0001), physical (p = 0.0002), and socioemotional (p = 0.0001) V-RQOL scores and in self-assessment of voice (p = 0.004) were found. The general grades of vocal deviation (p = 0.0001), roughness (p = 0.0001), breathiness (p = 0.0001) and strain (p = 0.0001) exhibited accentuated reductions. Conclusions: Voice therapy with semioccluded vocal tract exercises and choral training improved social impact and perceptual voice assessments in IGHD subjects and markedly improved their voice-related quality of life. This is particularly important in a setting where GH replacement therapy is not widely accepted.

Evolution to permanent or transient conditions in children with positive neonatal TSH screening tests in Sergipe, Brazil

ABSTRACT Objectives To assess the evolution to permanent or transient conditions in children with positive neonatal TSH tests in Sergipe, Brazil, from 2004 to 2010. Subjects and methods Out of 193,794 screened newborns, 713 presented a neonatal TSH level higher than the local cutoff (5.2 µU/mL). From the confirmatory serum TSH values, the children were diagnosed with initial congenital hypothyroidism (CH) or suspect CH. From the evolution, they were classified as permanent CH, hyperthyrotropinemia, or transient TSH elevation. The mean incidence of each final condition was calculated for the total period of time. Results The initial diagnosis included 37 CH (18.1%) and 167 suspect CH (81.9%) cases. The final diagnosis included 46 cases of permanent CH (22.5%), 56 of hyperthyrotropinemia (27.5%), and 102 of transient TSH elevation (50.0%). Out of the 37 cases of initial CH, 23 (62.2%) had permanent CH, nine (24.3%) had hyperthyrotropinemia, and five (13.5%) had transient TSH elevation. Out of the 167 suspect CH cases, 23 (13.8%) had permanent CH, 47 (28.1%) had hyperthyrotropinemia and 97 (58.1%) had transient TSH elevation. The mean incidence after the follow up was 1:4,166 for permanent CH, 1:3,448 for hyperthyrotropinemia, and 1:1,887 for transient TSH elevation. Eighty-six percent of the children with an initial diagnosis of CH and 41.9% with suspect CH had a permanent condition (CH or hyperthyrotropinemia). Conclusions The follow-up of children with an initial diagnosis of CH or suspect CH is necessary to determine whether the disorder is permanent because predicting the evolution of the condition is difficult.

Comparison between the growth response to growth hormone (GH) therapy in children with partial GH insensitivity or mild GH deficiency / Comparação entre a resposta de crescimento ao tratamento com hormônio de crescimento (GH) em crianças com insensibilidade parcial ao GH ou deficiência de GH leve

Objectives: GH therapy is still controversial, except in severe GH deficiency (SGHD). The objective of this study was to compare the response to growth hormone (GH) therapy in children with partial GH insensitivity (PGHIS) and mild GH deficiency (MGHD) with those with SGHD.Subjects and methods: Fifteen PGHIS, 11 MGHD, and 19 SGHD subjects, followed up for more than one year in the Brazilian public care service, were evaluated regarding anthropometric and laboratory data at the beginning of treatment, after one year (1 st year) on treatment, and at the last assessment (up to ten years in SGHD, up to four years in MGHD, and up to eight years in PGHIS).Results: Initial height standard deviation score (SDS) in SGHD was lower than in MGHD and PGHIS. Although the increase in 1 st year height SDS in comparison to initial height SDS was not different among the groups, height-SDS after the first year of treatment remained lower in SGHD than in MGHD. There was no difference in height-SDS at the last assessment of the children among the three groups. GH therapy, in the entire period of observation, caused a trend towards lower increase in height SDS in PGHIS than SGHD but similar increases were observed in MGHD and SGHD.Conclusion: GH therapy increases height in PGHIS and produces similar height effects in MGHD and SGHD.

Objetivos: O tratamento com GH é ainda controverso, salvo na deficiência grave de GH (SGHD). O objetivo deste estudo foi comparar a resposta ao tratamento com GH em indivíduos com insensibilidade parcial ao GH (PGHIS) e na deficiência moderada do GH (MGHD) com SGHD.Sujeitos e métodos: Quinze pacientes com PGHIS, 11 com MGHD e 19 com SGHD, seguidos por mais de um ano no Sistema Único de Saúde, foram avaliados antropométrica e laboratorialmente, no início, com um ano de tratamento e na última avaliação (tempo máximo de dez anos na SGHD, quatro anos na MGHD e oito anos na PGHIS).Resultados: O escore de desvio-padrão (EDP) da estatura inicial foi menor nos indivíduos com SGHD do que naqueles com MGHD e PGHIS. Embora o aumento no EDP da estatura no primeiro ano em comparação com o inicial não fosse diferente entre os grupos, o EDP da altura no primeiro ano de tratamento permaneceu menor na SGHD que na MGHD. Não houve diferença no EDP da estatura na última avaliação entre os três grupos. O tratamento com GH, no período completo da observação, provocou uma tendência a menor aumento no EDP da estatura nos pacientes com PGHIS que naqueles com SGHD, entretanto aumentos semelhantes foram encontrados nos grupos MGHD e SGHD.Conclusão: O tratamento com GH aumentou a estatura nos indivíduos com PGHIS e produziu efeitos similares na estatura em MGHD e SGHD.

Função respiratória em filhos de mães asmáticas / Respiratory function in children of asthmatic mothers

OBJETIVO: Avaliar a função pulmonar e as manifestações clínicas sugestivas de asma em filhos de mães com diagnóstico médico referido de asma. MÉTODOS: Estudo observacional transversal analítico aninhado a uma coorte de 4.757 parturientes. Foram avaliadas 86 crianças aos seis anos de idade, filhas de mães com diagnóstico médico de asma antes da gestação. Foram coletadas informações referentes a sintomatologias clínicas de atopias e doenças respiratórias, variáveis socioeconômicas e de exposição; tendo sido as crianças submetidas à espirometria. RESULTADOS: Foram encontrados 30,3% de alterações espirométricas, havendo predomínio do diagnóstico de asma nos que apresentaram padrão obstrutivo. Diagnóstico médico pregresso de asma ocorreu em 9,3% das crianças; contudo, o diagnóstico estabelecido a partir da presença e frequência dos sintomas de asma representou 18,6%. Das 86 crianças participantes, 37,2% tiveram um escore de cinco ou mais pontos no questionário ISAAC, estando isso associado à alteração do padrão espirométrico (p = 0,002). Após a regressão logística múltipla, maior escolaridade paterna, maior número de quartos no domicílio e o fato de a mãe não ter apresentado "chiado" durante a gestação foram estatisticamente significantes como fatores protetores para a presença de distúrbio ventilatório à espirometria. CONCLUSÕES: A frequência de alterações do teste espirométrico em filhos de mães asmáticas foi alta, com o padrão restritivo ocorrendo mais vezes que o obstrutivo. Houve uma maior ocorrência de exames obstrutivos naqueles que apresentavam sintomatologia clínica de asma, com uma frequência de diagnóstico clínico de asma superior à encontrada na literatura.

OBJECTIVE: To evaluate lung function and clinical manifestations suggestive of asthma in children of mothers with a reported medical diagnosis of asthma. METHODS: An observational cross-sectional analytical study nested in a cohort of 4,757 pregnant women. A total of 86 six-year-old children were evaluated, born to mothers with a medical diagnosis of asthma before pregnancy. Information was collected regarding clinical symptoms of atopy and respiratory diseases, as well as socioeconomic and exposure variables; the children were submitted to spirometry. RESULTS: Spirometric alterations were observed in 30.3% of cases, with a prevalence of asthma in those who had an obstructive pattern. 9.3% of the children had a previous medical diagnosis of asthma; however, the established diagnosis based on the presence and frequency of asthma symptoms was 18.6%. Of the 86 participating children, 37.2% had a score of five or more points in the International Study of Asthma and Allergies in Childhood (ISAAC) questionnaire, which was associated with spirometry alterations (p = 0.002). After multiple logistic regression analysis, higher paternal education, higher number of bedrooms in the family's home, and mother who did not have "wheezing" episodes during pregnancy were statistically significant as protective factors for the presence of respiratory disorder detected by spirometry. CONCLUSIONS: The frequency of spirometry alterations in children of asthmatic mothers was high; the restrictive pattern was more often observed that the obstructive. There was a higher incidence of obstructive test results in those who presented clinical symptoms of asthma, with a higher frequency of clinical diagnosis of asthma than that found in the literature.

Sensibilização a aeroalérgenos em pacientes com suspeita de alergia respiratória atendidos na rede pública e privada no município de Aracaju / Sensitization to inhalant allergens in patients with suspected respiratory allergy treated at public and private health care clinics in the city of Aracaju

OBJETIVO: Identificar e comparar os padrões de sensibilização a alérgenos inalantes entre pacientes com suspeita de alergias respiratórias atendidos em ambulatórios públicos e privados do município de Aracaju.MÉTODOS: Foram analisados 1.514 resultados de testes cutâneos (TC) de punctura, realizados de abril de 2006 a setembro de 2009. Destes, 872 TC foram realizados em consultório de setor privado, e 642 nos ambulatórios do setor público. Os extratos alergênicos utilizados em TC foram: Dermatophagoides pteronyssinus, Dermatophagoides farinae, Blomia tropicalis, Periplaneta americana, Blattella germanica, penas, mistura de fungos e epitélios de cão e de gato. RESULTADOS: Asensibilização a pelo menos um alérgeno foi de 55% (58,4% no setor privado vs 50,3% no setor público; p < 0,05). Houve predomínio de TC positivos para ácaros domiciliares (total 53%; 57,3% vs. 47,2%; p < 0,0001), seguido de baratas (total 19,9%; 22,1% vs. 16,8%; p < 0,05) e animais domésticos (total 18,4%; 24,4% vs. 10,3%; p < 0,0001). Foram encontradas frequências significativamente maiores de TC positivos no setor privado quando comparado ao setor público para D. farinae (50,1% vs. 37,5%; p < 0,0001), D. pteronyssinus (47,7% vs. 35,7%; p < 0,0001), B. tropicalis (50,8% vs. 35,5%; p < 0,0001), epitélio de gato (18,1% vs. 6,2%; p < 0,0001), epitélio de cão (12,0% vs. 4,2%; p < 0,0001), penas (4,8% vs. 2,6%; p = 0,03) e B. germanica (16,1% vs. 11,5%; p = 0,01). Não se observou diferença significante quanto à sensibilização a fungos do ar e a P. americana.CONCLUSÃO: Ácaros domiciliares, baratas e animais domésticos foram as principais fontes de sensibilização alérgica na população estudada. Indivíduos atendidos no setor público apresentaram menor frequência de sensibilização a alérgenos inalantes quando comparados àqueles atendidos em clínica privada na cidade de Aracaju.