SUMMARY OBJECTIVE: This study aims to evaluate the role of anthropometric clinical indicators of visceral adiposity as predictors of NAFLD, identifying the cutoff points based on gender. METHODS: This was a cross-sectional study conducted in patients with or without NAFLD. Waist circumference (WC), body mass index (BMI), waist-to-height ratio (WHtR), Conicity Index (C Index), and lipid accumulation product (LAP) were evaluated. RESULTS: A total of 107 individuals were evaluated, of which 46.7% were diagnosed with NAFLD. Individuals with NAFLD presented higher values of WC, BMI, C Index, LAP, and WHtR when compared with those without NAFLD (p<0.05). For the total sample, the indicators WC, BMI, WHtR, LAP, and C Index had an area under the receiver operator characteristic curve (AUC) above 0.87, with no difference in the prediction of NAFLD in both sexes. WHtR (AUC=0.934) was the indicator of visceral adiposity with the best discriminatory power for NAFLD, followed by LAP (0.919), WC (0.912), C Index (0.907), and BMI (0.877). CONCLUSIONS: The anthropometric clinical indicators of visceral adiposity showed high performance, especially the WHtR indicator, as NAFLD predictors.

SUMMARY OBJECTIVE: To evaluate the association between muscle mass depletion and compromising of the cell membrane integrity and clinical–anthropometric characteristics in patients with nonalcoholic fatty liver disease. METHODS: This observational study evaluated waist circumference, body mass index, and waist-to-height ratio in patients with nonalcoholic fatty liver disease. Skeletal mass index corrected by weight and impairment of cell membrane integrity were assessed using bioelectrical impedance analysis. RESULTS: In 56 patients, muscle mass depletion was observed in 62.5% and cell membrane impairment in 28.6%. The metabolic syndrome and elevated aspartate aminotransferase were the only clinical factors associated with mass depletion (p<0.05). The linear regression analysis showed association between skeletal mass index and waist-to-height ratio and waist circumference, after adjustments (p<0.05). The phase angle value was not different between those with and without mass depletion, and also it did not have correlation with skeletal mass index and clinical parameters (p>0.05). CONCLUSIONS: The prevalence of mass depletion and cell membrane impairment was higher in patients with nonalcoholic fatty liver disease. The muscle mass depletion was associated with central obesity, aspartate aminotransferase elevated, and metabolic syndrome; however, the phase angle is not associated with clinical and anthropometric data.

Abstract Background The heterogeneity in detection rates of Human immunodeficiency virus, (HIV), Human T lymphotropic virus (HTLV) and Hepatitis B and C infections among pregnant women and the continuous exposure to risk factors limits the adoption of preventive and control actions. Objective To evaluate the HIV, HTLV, Hepatitis B and C seroprevalence rates, and associated risk factors in parturient women in Salvador, Brazil. Methods This was a cross-sectional study in 2099 parturient women attended in two public maternity hospitals in Salvador, Brazil. One blood sample was drawn for serological screening and socio-demographic, obstetric and clinical data were collected. Results HIV seroprevalence rate was 1.5% (of which 0.6% were new cases); seroprevalence rates for HTLV, HBV, and HCV were 0.4%, 0.4%, and 0.1%, respectively. Univariate analysis showed a significant association between socio-demographic and behavioral factors with retroviral infections, while viral hepatitis was mainly associated with parenteral exposure. In a multivariate analysis, multiple sexual partners (OR 3.3; 95% CI: 1.1–9.2), history of sexual/domestic violence (OR 2.8; 95% CI: 1.1–6.9), syphilis co-infection (OR 2.6; 95% CI: 1.0–6.9), use of alcohol or drugs (OR 2.5; 95% CI: 1.2–5.5), and low schooling level (OR 2.3; 95% CI: 1.1–4.9) were independent risk factors for HIV infection. History of stillbirth and low birth weight infants was significantly associated with HTLV positive status, showing a negative impact on gestation. Conclusions The seroprevalence rates for HIV, HCV, HBV, and HTLV were similar to that found in previous studies in other Brazilian regions. The high individual, socioeconomic, and social vulnerability detected in seropositive parturient women indicates the need to improve coverage and effectiveveness of STDs control with prevention, detection and monitoring strategies, focusing in pregnant women exposed to high biopsychosocial risk.

Resumo A atelosteogênese tipo I (AOI) é uma displasia esquelética autossômica dominante causada por mutações no gene filamina B (FLNB) comachados clínicos clássicos e bem reconhecíveis. No entanto, pais afetados com um fenótipo mais leve, provavelmente commosaicismo somático, podem gerar uma prole comumfenótipomuito mais grave de AOI. No presente relato, descrevemos um recém-nascido do sexo feminino comAOI clássica, que levou à morte neonatal precoce, e cujo diagnóstico foi baseado em achados radiológicos pré-natais e no exame físico de seu genitor. Como o genitor apresentava deformidades em membros e assimetria corporal, que sugeriam mosaicismo somático, suas amostras biológicas foram analisadas por meio de um painel de genes para displasias esqueléticas. Umamutação missense, não descrita anteriormente na literatura, foi detectada no gene FLNB, afetando ~ 20% das células avaliadas, e, portanto, confirmando o diagnóstico de AOI em mosaico no genitor. A análise molecular realizada no genitor foi fundamental para sugerir o diagnóstico de AOI na recém-nascida, uma vez que esta morreu precocemente, e não havia amostras biológicas disponíveis.

Abstract Atelosteogenesis type I (AOI) is an autosomal dominant skeletal dysplasia caused by mutations in the filamin B (FLNB) gene with classic and well-recognizable clinical findings. However, parents affected with a mild phenotype, probably with somatic mosaicism, can generate offspring with a much more severe phenotype of AOI. In the present report, we describe a female newborn with classic AOI leading to early neonatal death, whose diagnostic was based on prenatal radiological findings and on the physical examination of the father. Since her father had limb deformities and corporal asymmetry, suggesting somatic mosaicism, his biological samples were analyzed through a gene panel for skeletal dysplasias. A missense mutation not previously described in the literature was detected in the FLNB gene, affecting ~ 20% of the evaluated cells and, therefore, confirming the diagnosis ofmosaic AOI in the father. The molecular analysis of the father was crucial to suggest the diagnosis of AOI in the newborn, since she died early and there were no biological samples available.

OBJETIVO: Determinar a prevalência de alterações cromossômicas em casais com dois ou mais abortos recorrentes do primeiro trimestre, sem causa definida. MÉTODOS: Foram incluídas 151 mulheres e 94 parceiros com história obstétrica de 2 ou mais abortos consecutivos de 1º trimestre (1-12 semanas de gestação). Os controles foram 100 mulheres saudáveis, sem histórico de perda da gravidez. A análise cromossômica foi realizada em linfócitos de sangue periférico, cultivados 72 horas e tratados com a técnica Tripsina-Giemsa (GTG banda). Em todos os casos, foram analisadas 30 metáfases e montados 2 cariótipos, sendo utilizada microscopia de luz. A análise estatística foi realizada por meio do teste t de Student para dados com distribuição normal e o teste Mann-Whitney para os dados não paramétricos. Foi usado o teste de Kruskal-Wallis ou Análise de Variância para comparação dos valores médios entre três ou mais grupos. O software utilizado foi o Statistical Package for the Social Sciences (SPSS), versão 17.0. RESULTADOS: A frequência de alterações cromossômicas das mulheres com aborto recorrente foi de 7,3%, incluindo 4,7% com mosaicismo do cromossomo X, 2% com translocações recíprocas e 0,6% com translocações Robertsonianas. No total, 2,1% dos parceiros das mulheres com abortos recorrentes tinham anormalidades cromossômicas, sendo 1% com mosaicismo do cromossomo X e 1% com inversões. Entre os controles, 1% apresentou mosaicismo. CONCLUSÃO: No presente estudo, foi observada associação entre alterações cromossômicas e aborto recorrente no primeiro trimestre da gestação (OR=7,7; IC95% 1,2-170,5). A identificação etiológica de fatores genéticos é uma informação clínica importante para o aconselhamento genético e orientação do casal quanto ao risco para gestações futuras, bem como diminui o número de investigações para elucidar as possíveis causas dos abortamentos.

PURPOSE: To investigate the prevalence of chromosomal abnormalities in couples with two or more recurrent first trimester miscarriages of unknown cause. METHODS: The study was conducted on 151 women and 94 partners who had an obstetrical history of two or more consecutive first trimester abortions (1-12 weeks of gestation). The controls were 100 healthy women without a history of pregnancy loss. Chromosomal analysis was performed on peripheral blood lymphocytes cultured for 72 hours, using Trypsin-Giemsa (GTG) banding. In all cases, at least 30 metaphases were analyzed and 2 karyotypes were prepared, using light microscopy. The statistical analysis was performed using the Student t-test for normally distributed data and the Mann-Whitney test for non-parametric data. The Kruskal-Wallis test or Analysis of Variance was used to compare the mean values between three or more groups. The software used was Statistical Package for the Social Sciences (SPSS), version 17.0. RESULTS: The frequency of chromosomal abnormalities in women with recurrent miscarriages was 7.3%, including 4.7% with X-chromosome mosaicism, 2% with reciprocal translocations and 0.6% with Robertsonian translocations. A total of 2.1% of the partners of women with recurrent miscarriages had chromosomal abnormalities, including 1% with X-chromosome mosaicism and 1% with inversions. Among the controls, 1% had mosaicism. CONCLUSION: An association between chromosomal abnormalities and recurrent miscarriage in the first trimester of pregnancy (OR=7.7; 95%CI 1.2--170.5) was observed in the present study. Etiologic identification of genetic factors represents important clinical information for genetic counseling and orientation of the couple about the risk for future pregnancies and decreases the number of investigations needed to elucidate the possible causes of miscarriages.