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Gabriella de M. Abreu Roberta M. Tarantino Ana Carolina P. da Fonseca Ritiele B. de Souza Camila A.P.D. Soares Pedro H. Cabello Melanie Rodacki Lenita Zajdenverg Verônica M. Zembrzuski Mário Campos Junior 《European journal of medical genetics》2021,64(5):104194
Maturity-Onset Diabetes of the Young type 4 is a rare form of diabetes mellitus, caused by mutations in the PDX1 gene. However, only a few mutations in this gene have been associated as a cause of monogenic diabetes up to date. It makes difficult to create a clinical manifestation profile of this disease and, consequently, to improve the therapeutic management for these patients. Here we report a normal weight woman, diagnosed with diabetes mellitus at 27 years old, during her first pregnancy. At the time of the recruitment, she was 40 years old and had a body mass index of 23.9 kg/m2, glycated hemoglobin level of 9.6%, and fasting plasma glucose (FPG) of 254 mg/dL. She presented no diabetic complications and she was being treated with insulin. She reported a family history of diabetes mellitus characteristic of an autosomal dominant mode of inheritance. Molecular analysis of the PDX1 gene revealed the missense variant c.532G > A (p.(Glu178Lys)) segregating from the patient to her son, reported as diabetic. It was absent in her healthy daughter. The c.532G > A seems to be a rare variant, absent in human variants databases, and among 86 normoglycemic controls. Eight in silico algorithms classified this variant as probably pathogenic. Additionally, analysis of the evolutionary conservation showed the glutamic acid in the position 178 of PDX-1 protein as conserved among several species. Our findings reinforce the importance of screening rare MODY genes among families with suspicion of monogenic diabetes to help better understand the clinical manifestations of this disease. 相似文献
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Gabrielle R. Sena Tiago P. F. Lima Suely A. Vidal Maria do Carmo M. B. Duarte Patrícia G. M. Bezerra Eduardo J. Fonseca Lima Cynthia Braga Lívia B. de Andrade Mecneide M. Lins Leuridan C. Torres Jurema T. O. Lima Maria Julia G. Mello 《The American journal of tropical medicine and hygiene》2021,104(4):1507
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P Möllborg G Wennergren SG Norvenius B Alm 《Acta paediatrica (Oslo, Norway : 1992)》2011,100(2):226-230
Aim: In spite of several reports of an increased risk of sudden infant death syndrome (SIDS) in connection with bed‐sharing, it is not an uncommon practice. The aim of this study was to examine bed‐sharing at 6 months of age and the factors that are associated with bed‐sharing. Methods: Our cohort comprised 8176 randomly chosen families. At 6 month of age, the families received an invitation to the study, with a questionnaire, which was completed by 5605 families (response rate 68.5%). Results: Of the families, 19.8% bed‐shared. In the multivariate analysis, we found a correlation between breast‐feeding and bed‐sharing (breast‐feeding at 6 months: OR 1.94; 95% CI 1.56, 2.41). Moreover, we found an association with 3+ nightly awakenings at 6 months (2.70; 2.20, 3.32). It was more common to share a bed if the parent was single (2.04; 1.19, 3.51) and less common if the infant was bottle‐fed in the first week (0.70; 0.54, 0.90). Never using a pacifier was associated with a higher frequency of bed‐sharing. Conclusion: We found a correlation between breast‐feeding and bed‐sharing as well as between sleeping problems and a single parent. A lower percentage of infants sleeping in the parental bed were seen in association with formula feeding in the first week after birth. 相似文献
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Overweight,obese, underweight,and frequency of sugar consumption as risk indicators for early childhood caries in Brazilian preschool children
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Cecilia Claudia Costa Ribeiro Mariana Carvalho Batista da Silva Ana Margarida Melo Nunes Erika Bárbara de Abreu Fonseca Thomaz Cadidja Dayane Sousa Carmo Marizélia Rodrigues Costa Ribeiro Antônio Augusto Moura da Silva 《International journal of paediatric dentistry / the British Paedodontic Society [and] the International Association of Dentistry for Children》2017,27(6):532-539
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Marcello Fonseca Salgado‐Filho Samira Saady Morhy Henrique Doria de Vasconcelos Eric Benedet Lineburger Fabio de Vasconcelos Papa Eduardo Souza Leal Botelho Marcelo Ramalho Fernandes Maurício Daher David Le Bihan Chiara Scaglioni Tessmer Gatto Cláudio Henrique Fischer Alexander Alves da Silva Carlos Galhardo Júnior Carolina Baeta Neves Alexandre Fernandes Marcelo Luiz Campos Vieira 《Brazilian Journal of Anesthesiology》2018,68(1):1-32
Through the Life Cycle of Intraoperative Transesophageal Echocardiography (ETTI/SBA) the Brazilian Society of Anesthesiology, together with the Department of Cardiovascular Image of the Brazilian Society of Cardiology (DIC/SBC), createded a task force to standardize the use of intraoperative transesophageal echocardiography by Brazilian anesthesiologists and echocardiographers based on scientific evidence from the Society of Cardiovascular Anesthesiologists/American Society of Echocardiography (SCA/ASE) and the Brazilian Society of Cardiology. 相似文献