Alessandra Bernadete Trovó de Marqui

Prevalence of Y-chromosome sequences and gonadoblastoma in Turner syndrome

Abstract Objective: To assess the prevalence of Y-chromosome sequences and gonadoblastoma in patients with Turner syndrome (TS) using molecular techniques. Data source: A literature search was performed in Pubmed, limiting the period of time to the years 2005–2014 and using the descriptors: TS and Y sequences (n=26), and TS and Y-chromosome material (n=27). The inclusion criteria were: articles directly related to the subject and published in English or Portuguese. Articles which did not meet these criteria and review articles were excluded. After applying these criteria, 14 papers were left. Data synthesis: The main results regarding the prevalence of Y-chromosome sequences in TS were: (1) about 60% of the studies were conducted by Brazilian researchers; (2) the prevalence varied from 4.6 to 60%; (3) the most frequently investigated genes were SRY, DYZ3 and TSPY; (4) seven studies used only polymerase chain reaction, while in the remaining seven it was associated with FISH. Nine of the 14 studies reported gonadectomy and gonadoblastoma. The highest prevalence of gonadoblastoma (33%) was found in two studies. In five out of the nine papers evaluated the prevalence of gonadoblastoma was 10–25%; in two of them it was zero. Conclusions: According to these data, molecular analysis to detect Y-chromosome sequences in TS patients is indicated, regardless of their karyotype. In patients who test positive for these sequences, gonadoblastoma needs to be investigated.

Prevalence and Characteristics of Priapism in Sickle Cell Disease

Abstract Priapism is a pathological condition of persistent penile erection in the absence of sexual arousal or desire. It is an urological emergency and its identification is important as lack of prompt treatment can result in erectile dysfunction. The aim of this study was to estimate and describe the characteristics (number of episodes, duration, time of occurrence and evolution) of priapism in patients with sickle cell disease. A bibliographical research was carried out in PubMed, searching for papers published in the last 5 years. Thirteen scientific articles were included in this review. The main results were: 1) the highest prevalence of priapism in males reported was 48.0% and the lowest 0.67%; 2) six studies were carried out on the African Continent (46.1%), three in America (23.1%), two in Europe (15.4%) and two in Asia (15.4%); 3) the main goal of ∼50.0% of the studies was to determine the rate of priapism in patients with sickle cell disease; 4) there was predominance of sickle cell anemia patients [homozygous Hb S (HBB: c.20A>T) genotype]; 5) the minimum age of patients with priapism was 7 years old and the maximum 30 years. In general, the episodes of priapism occurred during sleep, were recurrent and had variable duration. The prevalence of priapism are not real and the explanations include underreporting by patients, lack of awareness by physicians and lack of proper prospective studies. Priapism is a complication that deserves close attention due to its significant impact on the life of the patient with sickle cell disease and, therefore, should be further clarified.

Profissionais de Unidades Básicas de Saúde sobre a triagem neonatal

Objetivo Descrever o conhecimento dos profissionais de saude sobre a triagem neonatal. Metodos Trata-se de um estudo exploratorio, descritivo, quantitativo realizado com 122 profissionais de saude (57 enfermeiros, 57 tecnicos de enfermagem e 8 medicos) que trabalhavam nas Unidades Basicas de Saude de Uberaba, Minas Gerais. Os participantes responderam a um questionario semiestruturado e os dados foram analisados de forma descritiva. Resultados Houve predominio do sexo feminino (93,5%) e idade media de 39 anos. Quanto as doencas detectadas pela triagem neonatal, a fibrose cistica e anemia falciforme foram citadas por 89,4% dos participantes, a fenilcetonuria e hipotireoidismo congenito por 78,9% e 75,6%, respectivamente, e a hiperplasia adrenal congenita por 43,1%. Apenas 24,4% dos participantes mencionaram a deficiencia da biotinidase. A maioria dos participantes (aproximadamente 90.0%) citaram que a triagem neonatal dever ser realizada entre o terceiro e o setimo dias de vida do neonato e que sua finalidade e a deteccao de doencas trataveis. Quanto ao momento ideal para orientacoes sobre a triagem neonatal, a maioria citou o pre-natal (74,8%) seguido pela alta hospitalar e antes da coleta do exame, com valores de 43,1% cada. Cerca de 30.0% dos participantes nao sabiam para onde encaminhar as amostras apos a coleta e 70.0% nao realizaram reciclagens sobre o assunto. Conclusao Os resultados mostram um conhecimento insuficiente sobre triagem neonatal. Essa lacuna poderia ser preenchida com acoes de educacao continuada, que proporcionariam uma melhora na qualidade da assistencia prestada ao binomio mae/filho.

CONHECIMENTO DAS PUÉRPERAS SOBRE O TESTE DO PEZINHO

ABSTRACT Objective: This study aimed to assess the knowledge of puerperal mothers about the Guthrie test. Methods: A total of 75 mothers who sought primary care between October 2014 and February 2015 were investigated. The form was applied by the main researcher and the data was analyzed, using descriptive statistics with Microsoft Office Excel, and Statistical Package for Social Sciences (SPSS) programs. Association tests and statistical power were applied. Results: Among the 75 mothers, 47 (62.7%) would have liked to receive more information about the newborn screening, especially regarding the correct sample collection period, followed by the screened morbidities. Most participants (n=55; 85.9%) took their children to be tested between the third and the seventh day of birth, as recommended by the Brazilian Health Ministry. Fifty-four women (72%) were unable to name the morbidities screened by the test in Minas Gerais, and they were also unaware that most have genetic etiology. The health professional who informed the mother about the Guthrie test was mainly the physician. This information was given prenatally to 57% of the cases, and to 43 % at the time of discharge from the hospital. The association test showed that mothers with higher education have more knowledge about the purpose and importance of the Guthrie test. The statistical power was 83.5%. Conclusions: Maternal knowledge about the Guthrie test is superficial and may reflect the health team’s usual practice.

Guthrie test: pregnant women's perception during prenatal care

1 Residência de Enfermagem em Neonatologia. Universidade Federal do Triângulo Mineiro. Uberaba, MG, Brasil. 2,3 Universidade Federal do Triângulo Mineiro. Uberaba, MG, Brasil. 4 Departamento de Patologia, Genética e Evolução. Instituto de Ciências Biológicas e Naturais. Universidade Federal do Triângulo Mineiro. Uberaba, MG, Brasil. Campus I Praça Manoel Terra, no 330. Uberaba, MG, Brasil. CEP: 38.015-050. E-mail: alessandratrovo@hotmail.comObjectives: to investigate pregnant women’s perception on Guthrie test and verify how this matter is approached during prenatal care. Methods: this study is an exploratory descriptive, cross-sectional and quantitative approach design, carried out with 160 pregnant women who attended the Prenatal Care service at the Primary HealthCare in the city of Uberaba-MG. Data collection was performed between December 2014 and February 2015, using a semi-structured questionnaire. A bivariate descriptive statistics was applied by using the Pearson ́s Chi-square test. Results: 75% of the pregnant women could not report which pathologies were to be screened, 16.3% reported that the diseases detected by Guthrie test had etiology genetic, 82% mentioned it was necessary to have more information on Guthrie test, 60% referred the necessity on focusing which diseases to be diagnosed. Only 36% of the pregnant women indicated the correct period (3rd to 7th day of the newborn life) for exam collecting. An average of 50% of the participants did not know about this prenatal test. Conclusions: pregnant women showed a low understanding regarding the test; there was a lack of understanding about prenatal matters. The nursing personnel play an important role in this stage to demonstrate their abilities in health education.

Mortality by sickle cell disease in Brazil

This work aimed to characterize mortality by sickle cell disease in Brazil. The MEDLINE electronic database was searched using the terms ‘mortality’ and ‘sickle cell disease’ and ‘Brazil’ for articles published in the last five years aiming to provide a current analysis of the subject in question. Eight studies on mortality by sickle cell disease were carried out in the Brazilian states of Maranhão, Bahia, Minas Gerais, Rio de Janeiro and Mato Grosso do Sul. The majority of the deaths occurred in patients with sickle cell anemia, which is the most common genotype and causes the most severe clinical manifestation of the disease. In summary, there are few published studies on mortality related to sickle cell disease in Brazil, and most are from the state of Minas Gerais. This study emphasizes the importance of developing more studies on sickle cell disease mortality, so that it may be possible to profile gene carriers and give health professionals more data to strategize the delivery of more effective assistance to these individuals. Despite the early diagnosis of sickle cell disease by the Neonatal Screening Program and the use of preventive and therapeutic measures (penicillin, immunization and hydroxyurea), mortality by sickle cell disease on the world stage is still significant.

Ausência de associação entre polimorfismos nos genes da glutationa-S transferase M1 e T1 e suscetibilidade à endometriose

Introduction: Endometriosis is a common gynecologic disorder influenced by genetic and environmental factors. The glutathione S-transferase family is associated with endometriosis because its main function is cellular detoxification, so the absence of those enzymes may be a factor for the development of the disorder. Objective: Investigate the relationship between polymorphisms of GSTM1 and GSTT1 genes and endometriosis, in order to gain a better understanding of the association between detoxification genes and the susceptibility to endometriosis. Material and methods: Case-control study in 132 women (49 with endometriosis and 83 of the control group). The genotype was determined using multiplex polymerase chain reaction (PCR), observed in 10% polyacrylamide gel electrophoresis stained with silver nitrate, and statistical analysis was performed. Results: There was not a significant difference between the GSTM1 and GSTT1 null genotype in the endometriosis group and the control group (p = 0.9956). The same result was observed with the combined genotype (p = 0.8129). Conclusion: In the present study, the GSTM1 and GSTT1 polymorphisms are not associated with a higher risk of endometriosis.

Depressão e Ansiedade em Mulheres com Endometriose: Uma Revisão Crítica da Literatura

This review aims to present the results of studies evaluating the prevalence and / or levels of depression and anxiety in women with endometriosis. For this a literature search was performed in PubMed, LILACS and Web of Science and 21 articles were selected for reading. Of these, eleven analyzed anxiety and depression, simultaneously, only nine depression and one anxiety. It was observed that patients with endometriosis exhibit high levels of depression and anxiety, probably due to frequent pain, infertility, delayed diagnosis and disease recurrence. It is concluded that psychological counseling should be offered to women with endometriosis and this is, therefore, an essential component for the treatment of this gynecological condition.

45,X/46,XX/47,XXX mosaicism.

We present here a short report of a patient with 45,X/46,XX/ 47,XXX mosaicism. A6 year 7 month-old girl was referred because of short stature. She was the second child of non-consanguineous, young parents (mother 23 and father 21 years old) with an unremarkable family history. The child was delivered at term by cesarean section. Birthweight was 2580 g (3rd percentile), length 44 cm (below the 3rd percentile) and head circumference 35 cm (50th percentile). The mother reported that she walked at 1 year 6 months of age and spoke the first words at 1 year. On physical examination at the Genetics Department at 8 years 6 months of age, the following were noted: height 1.10 m, weight 15.3 kg (both below the 3rd percentile), facial ephelides (freckles), rotated and slightly protruding lop-ears, cubitus valgus, multiple nevi on arms and thorax, serrated teeth, high palate, lumbar lordosis, and Tanner stage I. Karyotype analysis was therefore indicated. Echocardiogram and renal ultrasound were normal. Pelvic ultrasound showed a uterus measuring 3.4 ¥ 0.4 ¥ 0.7 cm (volume 0.5 mL), a right ovary of 0.9 ¥ 0.3 ¥ 1.1 cm, and a left ovary of 0.3 ¥ 0.4 ¥ 0.7 cm. Bone age was 7 years. Biochemistry and thyroid function tests were normal. Cytogenetic analysis of peripheral blood lymphocytes by GTG banding showed the presence of a mosaic chromosome constitution with three different