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- ItemAcesso aberto (Open Access)Aspectos genéticos do transtorno obsessivo-compulsivo(Associação Brasileira de Psiquiatria - ABP, 2001-10-01) Gonzalez, Christina H [UNIFESP]; Universidade Federal de São Paulo (UNIFESP)Since the first descriptions of obsessive-compulsive disorder (OCD), genetic factors have been implicated in the etiology of the illness. Twin studies show a high concordance rate for monozygotic twins. Family studies found a higher risk for OCD among relatives of OCD patients. Segregation analysis studies suggest the possible role of a major effect gene in the etiology of OCD. Association studies using molecular techniques have been conducted to try to find a specific gene or polymorphism involved in OCD. This review outlines the evidence gathered to date, including the recent findings in the molecular genetics analysis.
- ItemAcesso aberto (Open Access)Aspects and clinical procedures of eruptive changes of permanent upper canines(Dental Press International, 2012-04-01) Francisco, Sheila Marcia [UNIFESP]; Cappellette Junior, Mario [UNIFESP]; Universidade Federal de São Paulo (UNIFESP)INTRODUCTION: Even though the upper canine is the tooth that presents most eruption anomalies, after the third molars, canine retention prevalence in the population is quite low. Local, physiologic and pathologic factors can provide difficulties for the tooth eruptive process. The correct diagnosis in trying to prevent upper canine retention with ectopic eruption is fundamental to choose the ideal treatment, which can be performed by various methods. OBJECTIVE: The present paper has the purpose of approaching aspects related to impacted upper permanent canines by a literature review, including localization and treatment conducts.
- ItemSomente MetadadadosCarcinoma hepatocelular e as diferentes etiologias(Universidade Federal de São Paulo (UNIFESP), 2019-10-31) Vento, Vanessa Santos Andrade Cruz [UNIFESP]; Silva, Ivonete Sandra De Souza E [UNIFESP]; Universidade Federal de São Paulo (UNIFESP)Introduction: The main etiologies of liver disease in patients with hepatocellular carcinoma (HCC) are hepatitis B (HBV) and C (HCV) infections, alcoholic liver disease and non-alcoholic fatty liver disease. The etiology of liver disease may differ among the various characteristics of patients with HCC. Objective: To evaluate patients with HCC according to etiologies regarding clinical, laboratory and tumor characteristics and survival. Methods: cross-sectional study, through retrospective analysis of medical records of patients with HCC, attended at the liver nodule clinic of the Federal University of São Paulo, from January 2008 to December 2017. For comparative analysis according to the main etiologies of liver disease, HCC patients were grouped into group 1 (HCV vs. HCV + alcohol), group 2 (HCV vs. HBV), group 3 (viral vs. non-viral) and group 4 (alcohol vs. other etiologies). For statistical analysis Chi-square, Student's T or Mann-Whitney and Kaplan-Meier tests were applied. Results: 529 patients with HCC were studied. The main etiologies were HCV (52.5%), alcoholic liver disease (12.3%), HCV with alcohol (11.4%) and HBV (9.8%). The mean overall survival was 48 ± 3 months. In the comparative analyzes: group 1: patients with HCV + alcohol were young, men, with decompensated cirrhosis and lower ALT index, besides worse survival; group 2: HBV carriers were men, young, and less cirrhotic, with no difference in survival; group 3: non-viral etiology presented more decompensated cirrhosis, higher MELD and canalicular enzyme values, lower aminotrasfererase values, larger nodules and worse survival; group 4: patients with alcoholic liver disease were men, cirrhotic and Child B and C, with higher values of MELD and alpha-fetoprotein, but with lower value of ALT and poor survival. Conclusion: Alcohol and non-viral etiology were associated with worse liver function and lower survival compared to other etiologies in patients with HCC. Therefore, public health measures to control alcoholism are important.
- ItemAcesso aberto (Open Access)Fatores de risco para celulite em adolescentes(Universidade Federal de São Paulo (UNIFESP), 2019-06-27) Soares, Juliana Laudiceia Marques [UNIFESP]; Bagatin, Edileia [UNIFESP]; Miot, Hélio Amante [UNIFESP]; http://lattes.cnpq.br/2543633050941005; http://lattes.cnpq.br/6478900066830476; http://lattes.cnpq.br/2325812049415017; Universidade Federal de São Paulo (UNIFESP)Introduction. The cellulite is characterized as an irregular appearance of skin surface, with a "padded" or "orange peel" aspect on the thighs and gluteal regions and, less frequently, on the arms and abdomen, predominantly in women after puberty. Although the etiopathogenesis is still not fully understood, cellulite is considered a multifactorial disorder, involving primary, anatomic or structural alterations of the adipose tissue and alterations of the dermal connective tissue. The most relevant factors include: fat herniation towards the dermal connective tissue, facilitated by the presence of fine and perpendicular hypodermic fibrous septa; the biochemical and metabolic differences in relation to normal fat and the architectural changes related to sex in different regions of the body. Objective: To evaluate the risk factors for the appearance of cellulite and its impact on quality of life. Methods: This is a cross-sectional observational study. A total of 184 adolescents aged 12 to 18 years, mean of 15 years were included. Genetic familial, gynecological hormonal factors, physical activity, nutrition, body composition and anthropometry were evaluated as well as cellulite severity and its impact on quality of life. Results: The variables that showed significant as a risk factor for cellulite were: BMI (p˂0.001), time since menarche (p = 0.037), carbohydrate by energy (p = 0.006), water consumption per day (p = 0.037), family history (p = 0.003) and weekly physical activity (p˂0.001). Conclusion: Genetic familial, gynecological hormonal, nutritional, anthropometric factors and physical activity showed direct relation to development and severity of cellulite, which reinforces its multifactorial character. The disclosure of this study will be important to point out possible physiopathological mechanisms and to alert the adolescents about the risk factors associated with the onset and worsening of this condition.
- ItemSomente MetadadadosFetal growth restriction: current knowledge to the general Obs/Gyn(Springer, 2012-07-01) Machado Nardozza, Luciano Marcondes [UNIFESP]; Araujo Junior, Edward [UNIFESP]; Barbosa, Mauricio Mendes [UNIFESP]; Rabachini Caetano, Ana Carolina [UNIFESP]; Re Lee, Desiree Ji [UNIFESP]; Moron, Antonio Fernandes [UNIFESP]; Universidade Federal de São Paulo (UNIFESP)Fetal growth restriction (FGR) is a condition that affects 5-10 % of gestations, and it is the second primary cause of perinatal mortality. in this review the most recent knowledge about FGR is presented focusing on its concept, etiology, classification, diagnosis, management, and prognosis.Searches were conducted in Pubmed, Embase and Lilacs database using the term fetal growth restriction.FGR is classified as type I (symmetric), manifested early, in which there is a proportional reduction of all fetal parts, generally associated with chromosome abnormalities; type II (asymmetric), with late onset, in which there is a more accentuated reduction of the abdomen, generally related to placental insufficiency; and type III (mixed), with early manifestation, resulting from infections or exposure to toxic agents. Diagnosis may be clinical, although ultrasound associated with arterial and venous Doppler is essential for diagnosis and follow-up. Currently there is no treatment capable of controlling FGR, and the moment of interruption of pregnancy is of vital importance in order to protect maternal and fetal interests.Early diagnosis of FGR is very important, because it permits the etiological identification and adequate monitoring of fetal vitality, minimizing the risks related to prematurity and intrauterine hypoxia.
- ItemSomente MetadadadosMorphological evaluation of lateral ventricles of fetuses with ventriculomegaly by three-dimensional ultrasonography and magnetic resonance imaging: correlation with etiology(Springer, 2011-08-01) Haratz, Karina Krajden [UNIFESP]; Machado Nardozza, Luciano Marcondes [UNIFESP]; Oliveira, Patricia Soares de [UNIFESP]; Rolo, Liliam Cristine [UNIFESP]; Figuinha Milani, Herbene Jose [UNIFESP]; Sa Barreto, Enoch Quindere de [UNIFESP]; Araujo Junior, Edward [UNIFESP]; Ajzen, Sergio Aron [UNIFESP]; Moron, Antonio Fernandes [UNIFESP]; Universidade Federal de São Paulo (UNIFESP)To evaluate morphology of lateral ventricles of ventriculomegaly/hydrocephaly fetuses using 3D-sonography by virtual organ computer-aided analysis (VOCAL) technique and magnetic resonance imaging (MRI) and verify morphologic patterns related to etiology.Seventeen fetuses presenting with ventricular enlargement (atria > 10 mm) were evaluated. 3D datasets were acquired from a coronal reference plane and post-processed by the rotational imaging using VOCAL 30(o). MRI study was analyzed in the three plans in all sequences. Morphologic aspects such as global shape, anterior, posterior and inferior horn characteristics, wall irregularities and deformities were analyzed and related to etiology factor.Twenty-nine percent of the cases were secondary to Arnold-Chiari syndrome and presented with global dilation of the three-horns. Cases related to aqueduct stenosis presented with ependymal rupture and wall irregularities in advanced cases. Corpus callosum agenesis cases presented with small ventricular volumes, thin shape, normal or slightly enlarged anterior and inferior horns with dilation restricted to posterior horn. Cases related to trisomy 18 and cytomegalovirus presented irregular ventricular walls associated with anomalous ventricular shapes, suggesting parenchymal destruction.Ventricular morphology evaluation gives important information on etiology of ventricular enlargement, supporting prognosis prediction and decision making process of the affected fetuses and their families.
- ItemSomente MetadadadosPerfil Epidemiológico Das Crianças Operadas De Catarata Em Um Centro De Referência No Estado De São Paulo - Brasil(Universidade Federal de São Paulo (UNIFESP), 2017-04-28) Rodrigues, Ana Paula Silverio [UNIFESP]; Freitas, Denise De [UNIFESP]; Universidade Federal de São Paulo (UNIFESP)Purpose: The main purpose is to study epidemiological characteristics of children submitted to cataract surgery at a referral center in the State of São Paulo - Brazil. Subsequently, age at cataract diagnosis, red reflex test, congenital and development cataracts morphology, surgical technique were also studied. Methods: Between 2012 and 2015 at the Ophthalmology and Visual Science – UNIFESP, the files of 180 children submitted to cataract surgery were reviewed in this observational study. The following outcomes were analyzed: identification, gender, age, age at first appointment, operated eye, main parental complaining, comorbidity, familial history familiar background, red reflex test, cataract morphology, strabismus, type of surgery and age of cataract extraction. Results: A total of 243 eyes of 180 children (57.2% boys and 42.8% girls) were enrolled in this study (p=0.062). The mean age at the admission was 49.9 months, and the mean age of cataract surgery was 65.4 months. The mean interval between admission and surgery was 14.9 months. There was no gender preference (p=0.519) in all children who had cataract extraction, and in children < 12 months’ laterality was equal (p=1.000). We do not have information about red reflex screening in one-third of the operated babies. The exam was done in two-thirds of them, and the results were abnormal in only 28.0%. The mean age at surgery in children < 12 months was 5.6 months (DP=3.2 months), and the result of red reflex screening has not contributed for earlier surgery. Family history of cataract was present in 20.1% of the children and comorbidities like prematurity in 11.9% and Down Syndrome in 9.5% of the children. Nistagmus (24.2%), strabismus (20.3%), previous ocular surgery (16%), anterior segment abnormalities and strabismus were ocular findings. Regarding morphology, the four most common types of cataract were total (29.1%), lamellar (22.0%), nuclear (16.5%), and posterior subcapsular (15.5%). The most important parents complain at the first visit was leukocoria (25.8%). 23 Gauge lensectomy (22.5%) and facoemulsification with IOL implantation (21.2%) were the most frequent surgical techniques. Conclusion: Children who were submitted to a cataract surgery at state of São Paulo Referral Center presented equal distribution between boys and girls. The mean age at the first visit and surgery were about 4 and 5 years old, respectively. Hereditary, prematurity, Down Syndrome, infections, trauma were prenatal and postnatal history were the most frequent findings in these children. There is no preference for laterality. Total, lamellar, nuclear and posterior subcapsular were the most common morphologycal types. Lensectomy minimally invasive is our first choice for children younger than 12 months and for children older than 13 months, cataract extraction and IOL implantation. Although red reflex screening program is mandatory by law, we do not get exam information in most babies (children < 12 months) and, in those we got the exam results, in 72% of operated babies the test was normal. The red reflex also did no decrease time between first visit and surgery. Referral difficulties, besides not enough number of specialized centers in pediatric ophthalmology, were the most important barriers to adequate treatment of cataract pediatric children. Measures of awareness, health care workers training and parents education, besides financial investments in ophthalmologic pediatric centers, will improve outcomes, increasing treatment success.
- ItemAcesso aberto (Open Access)Pesquisa de causas genéticas do câncer não medular familial da tireoide(Universidade Federal de São Paulo (UNIFESP), 2017-05-30) Rodrigues, Mariana Teixeira [UNIFESP]; Rubio, Ileana Gabriela Sanchez de [UNIFESP]; http://lattes.cnpq.br/3231635049279767; http://lattes.cnpq.br/8949906421066457; Universidade Federal de São Paulo (UNIFESP)Non-medullary thyroid carcinoma (NMTC) is a neoplasm that originates in follicular thyroid cells, corresponds to 90-95% of thyroid cancers, and 3 to 6% are familial cases (FNMTC). The FNMTC is considered syndromic when the patients present clinical picture of Mendelian tumor syndromes with low preponderance of thyroid tumors. Some syndromes are well characterized, such as Cowden's Syndrome, Gardner's Syndrome, Carney's Complex, and Werner's Syndrome, although clinical manifestations may vary from family to family. Mutations in different genes have already been associated with these syndromes and in 80-85% cases of Cowden's Syndrome, mutations in the PTEN gene have been identified (10q23.3). This work aimed to investigate genetic alterations involved in the clinical picture of a family with suspicious of syndromic FNMTC. The study included a family from Piauí with 13 members diagnosed with thyroid, skin, breast, lung, gastric, oral or bone cancer. Although it does not clearly fit into any of the FNMTC syndromes, the possibility of being a Cowden's Syndrome was not ruled out. Therefore, mutations in the exons and promoter of PTEN gene sequence were first screened using Sanger's sequencing of peripheral blood DNA from a patient with thyroid cancer. Six variants previously described in the unaffected population were identified and, therefore, were not related to the disease. Subsequently, new generation sequencing of the genome coding regions and UTRs regions (expanded WES, 71mb per sample) of three cancer patients was carried out, for which the SureSelectXT Human All Exon V6 + UTR Capture Library kit was used (Agilent) and the Illumina® NextSeq™ 500 platform. WES generated between 3.69Gb and 4.85Gb of data per sample. Approximately 85 million bases were sequenced for each patient and more than 60% of bases had coverage greater than or equal to 30x. After several bioinformatics analyzes, five SNVs with high potential to be mutations, present in the three patients, were absent in the database and in 18 Brazilian individuals not affected by thyroid cancer and considered pathogenic by prediction programs. Only one of the variants (c.50A> C in the MSN gene) seemed to segregate with the disease, was present in other affected patients and in two asymptomatic individuals. However, it was discarded because the alteration located in X chromosome could not be inherited from the transmitting father with lung cancer to a male asymptomatic carrier. No insertions or deletions (indels) related to the FNMTC family were found. Therefore, it was ruled out the possibility of being a case of CNMT syndromic, raising the hypothesis of being a case of familial cancer or family group, characterized by the lack of inheritance pattern, the presence of a high number of individuals with sporadic tumors, presence of various types of tumors and age of onset of the disease like sporadic cases. We conclude, therefore, that this family could be classified as a case of familial and non-hereditary cancer. However, studies of other regions of the genome not assessed by expanded whole exome sequencing or the use of alternatives pipelines could suggest a genetic predisposition to cancer.
- ItemSomente MetadadadosThe role of the Hoxa10/HOXA10 gene in the etiology of endometriosis and its related infertility: a review(Springer, 2010-12-01) Zanatta, Alysson; Rocha, Andre M.; Carvalho, Filomena M.; Pereira, Ricardo M. A.; Taylor, Hugh S.; Motta, Eduardo L. A. [UNIFESP]; Baracat, Edmund C.; Serafini, Paulo C.; Huntington Med Reprod; Universidade de São Paulo (USP); Yale Univ; Universidade Federal de São Paulo (UNIFESP)Endometriosis and its associated infertility have been the object of continuous research for over a century. To understand the molecular mechanisms underlying the disease, it has become necessary to determine the aspects of its etiology that are not explained by the retrograde menstruation theory. This could in turn elucidate how various clinical and surgical treatments might affect the evolution and remission of the disease.This review is focused on the most recent clinical and laboratory findings regarding the association of HOXA10 with endometriosis and infertility.The homebox (Hox/HOX) proteins are highly conserved transcription factors that determine segmental body identities in multiple species, including humans. Hoxa10/HOXA10 is directly involved in the embryogenesis of the uterus and embryo implantation via regulation of downstream genes. Cyclical endometrial expression of Hoxa10/HOXA10, with a peak of expression occurring during the window of implantation, is observed in the adult in response to estrogen and progesterone. Women with endometriosis do not demonstrate the expected mid-luteal rise of HOXA10 expression, which might partially explain the infertility observed in many of these patients. Recent studies also demonstrated HOXA10 expression in endometriotic foci outside the Mullerian tract.Multiple lines of evidence suggest that the actions of the homeobox A10 (Hoxa10/HOXA10) gene could account for some aspects of endometriosis.