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Scientific innovations around the study of human chromosomes, which emerged after the mid 20th century, consolidated the incorporation of genetics in prenatal diagnosis. The link between maternal age and genetic syndromes, proposed by biomedical researchers, produced resolutions about risks to pregnant women of a certain age. The article presents biomedicine concepts for advanced maternal age classified as a risk pregnancy. The review of Brazilian and foreign medical manuals in obstetrics and genetics showed different conceptions of risk concerning the reproductive age factor. Maternal age is an aspect in obstetrics related to the risk of diseases. For genetic expertise, advanced maternal age is not a central factor of risk for reproduction. The research found that the classification of an ideal maternal age for pregnancy is relative and susceptible to changes according to the socio-historical context of each society. [ABSTRACT FROM AUTHOR]

Autism spectrum disorder is a complex and genetically heterogeneous disorder, which has hampered the identification of the etiological factors in each patient and, consequently, the genetic counseling for families at risk. However, in the last decades, the remarkable advances in the knowledge of genetic aspects of autism based on genetic and molecular research, as well as the development of new molecular diagnostic tools, have substantially changed this scenario. Nowadays, it is estimated that using the currently available molecular tests, a potential underlying genetic cause can be identified in nearly 25% of cases. Combined with clinical assessment, prenatal history evaluation and investigation of other physiological aspects, an etiological explanation for the disease can be found for approximately 30 to 40% of patients. Therefore, in view of the current knowledge about the genetic architecture of autism spectrum disorder, which has contributed for a more precise genetic counseling, and of the potential benefits that an etiological investigation can bring to patients and families, molecular genetic investigation has become increasingly important. Here, we discuss the current view of the genetic architecture of autism spectrum disorder, and list the main associated genetic alterations, the available molecular tests and the key aspects for the genetic counseling of these families. [ABSTRACT FROM AUTHOR]

Background: It is challenging to make informed decision in genetic counseling. Shared decision-making provides a chance in balancing the information and preferences between counselors and counselees. However, the status and prescriptions of shared decision-making have not been extensively studied in genetic counseling. Aim: To develop an up-to-date literature review of the shared decision-making in genetic counseling, identify knowledge gaps, and provide inspiration and suggestions for the development and practice of genetic counseling. Methods: "Genetic Counseling" and "Shared decision-making" were used to search in PubMed, Web of Science, Embase, Wanfang, CNKI and CBM databases. The search deadline was March 26, 2021. Results: A total of 22 articles were included, and four themes were identified: how people involved in genetic counseling, different stakeholders involved in SDM, multiple facilitators and barriers to SDM and the effectiveness of SDM in genetic counseling. Conclusion: Each participant needs to recognize their boundaries and make the best effort to involve in the shared decision-making. In the future, multinational studies should be considered for bringing shared decision-making to the global scale and well-designed studies are required to explore the long-term impact of shared decision-making in genetic counseling. [ABSTRACT FROM AUTHOR]

The present article is the result of a sociological investigation project on the medical uncertainties in the context of the genetic counseling in the area of the hereditary cancer. Having as groundwork a case study developed in the scope of a family risk assessment in an oncologic hospital unit, the aim is to identify and analyze the new uncertainty dimensions emerging from this specific clinical context and highlight the way how these redefine the work practices as well as the clinical judgments. The analytical framework which organizes the sociological approaches about these new uncertainties is developed from the examination of two favoured axes related to the scientific profile of this biomedical area. The reconfiguration of the illness and medicine conception and the paradoxes of its predictive logic. [ABSTRACT FROM AUTHOR]

In Brazil, there is an estimated emergence of 500.000 new cases of cancer per year, of which 10% have hereditary characteristics. Colorectal cancer (CRC) is the third most common cause of death from cancer and approximately 30% of these tumors are hereditary. In the last years, there were important advances in the knowledge about hereditary cancers and in particular about CCR, which had an impact on mortality and survival rate, requiring the capableness of physicians to incorporate these advances in health care. This study aimed to evaluate the perception of São Carlos', SP, physicians about the general genetics of cancer and in particular about CCR. Without further appeal, it intends to collaborate in an efficient permanent educational program for health professionals, contributing to build an integral line of care for patients with genetic diseases. It is a descriptive study, to which 325 physicians with active registration on the Medical Association of São Carlos, in the years 2010 and 2011, were invited to participate. The research's participants fulfilled a semi-structured questionnaire consisting of 10 open questions and 5 closed questions. The analysis of the results was performed for each of the questionnaires by two researchers, from the responses to the questionnaire the topics were listed in accordance with the knowledge to which they referred.. Ten physicians participated in the study, which reflects a low compliance among the potential research subjects. The graduation year of the participants ranged between 1976 and 2005.From the analysis of the questionnaires some statements were captured: (1) "gene" was primarily described according to its biochemical composition and static form, without incorporation of recent molecular processes in the speeches; (2) the relation between genotype-phenotype was described as "cause-effect" and "variety of gene expression," the environmental influence in this interaction was included in part of the questionnaires; (3) the genetic etiology of cancer appeared as a constant reference in the speeches, even though the pathophysiology of hereditary cancer and the distinction between sporadic and inherited cancers were not clear, what appears to be an conceptual confusion between hereditary cancer and cancer familial aggregation; (4) the importance of clinical history, family history and molecular genetic testing for diagnosis of hereditary cancer was recognized, despite of the citation of tests with no utility for diagnosis; (5) the key features associated with hereditary cancers were recognized; (6) the concept that the hereditary CCR predisposes to extracolonic tumors was consensual, and the relationship between the high mortality of CCR and its late diagnosis was poorly expressed. These results can guide a plan for permanent education for graduated medical professionals about the recent discovers on genetic and genetic counseling for cancer. [ABSTRACT FROM AUTHOR]

Diseases of genetic origin presently cause around 34% of the deaths of minors under a year old. The knowledge obtained since the Human Genome Project begun has provided tools for prevention and cure. Among them genetic counseling is included, which must provide the basis for an informed decision over child gestation. These new technologies imply more and more usual and complex ethical issues. What to do with the information obtained? May it be used to cure genetic diseases? How to promote and assure this information's ethical practice? The basis for genetic counseling and its ethical implications are presented here under a personalized perspective. [ABSTRACT FROM AUTHOR]

Objetivos: descrever a prevalência e os tipos de anormalidades cromossômicas em casais com aborto recorrente e em produtos de concepção. Métodos: foram realizadas buscas eletrônicas nas bases de dados PubMed/Medline e no Portal Regional da Biblioteca Virtual em Saúde/BVS usando os descritores "chromosomal abnormalities and abortions and prevalence". Após a aplicação de critérios de inclusão e exclusão, 17 estudos foram selecionados. Resultados: 11 estudos foram realizados em casais com aborto recorrente e seis em produtos de concepção. Os principais resultados em casais com aborto recorrente foram: a frequência de anormalidades cromossômicas variou de 1,23% a 12% e houve predomínio de alterações cromossômicas estruturais (translocações recíprocas, seguidas por Robertsonianas). Nos produtos de concepção, os resultados observados foram: a frequência de anormalidade cromossômica foi acima de 50% em aproximadamente 70% dos estudos; houve predomínio de alterações cromossômicas numéricas (trissomia - cromossomos 16, 18, 21 e 22, seguido de poliploidia e monossomia X). Conclusões: em resumo, as alterações citogenéticas representam uma importante causa de perdas gestacionais e sua detecção auxilia no aconselhamento genético do casal. Portanto, o valor do conhecimento sobre a prevalência de anormalidades citogenéticas em amostras de aborto espontâneo é indiscutível, uma vez que permite o aconselhamento genético adequado ao casal. [ABSTRACT FROM AUTHOR]

We developed a systematic review of the importance of genetic counseling and its application in medical practice, especially in the monitoring of children with Down syndrome and their families. Methods: Retrospective study in secondary Integrative Review format, considering the steps: issue identification and selection of the research question; presentation of the criteria for inclusion and exclusion of studies; definition of information to be extracted from the selected studies; assessment of studies included in the integrative review results using a matrix; interpretation and discussion of results and review. It was used as descriptors Genetic counseling, Down syndrome and Trisossomia 21 in Portuguese, English and Spanish in the databases of PUBMED and Bireme. It was considered only the articles available in full and published in the last five years that dealt with human cases. Reports were excluded from the event and an opinion article. Results: The present study evaluated 11 articles published primarily in the United States, in 2012. The most common theme found abordadava on diagnostic techniques, and the prevalence studies and risk for genetic disorders and Down syndrome. Also found articles that dealt about genetic counseling of the families. Conclusions: It is necessary to develop more studies on the subject, particularly studies and meta-analysis of clinical trial with higher level of evidence, so that they can advance in knowledge about genetic counseling and Down Syndrome. [ABSTRACT FROM AUTHOR]

Este trabalho tem por objetivo apresentar os resultados do Projeto Atendimento psicoterapêutico e psicoeducativo às pessoas com alterações genéticas e/ou doenças crônicas com parcerias entre psicologia, medicina, biologia e design, bem como a capacitação e formação profissional dos colaboradores. Serão apresentadas as ações de março a julho de 2017. Para a efetividade dos atendimentos houve, inicialmente, o processo de recrutamento, seleção e treinamento dos colaboradores nas diferentes áreas, com capacitação continuada e reuniões periódicas interdisciplinares. Para os atendimentos foram 30 casos triados, 10 estão em atendimento individual com sessões semanais de 1h e está sendo formado o primeiro grupo de pacientes com Sindrome de Turner, sendo 12 sessões semanais de 1h30min., todos os atendimentos são realizados na Clinica Escola de Psicologia da Universidade Estadual de Londrina ; são realizadas supervisões e reuniões semanais dos casos; bem como a elaboração e aprimoramento dos instrumentos e estratégias tecnológicas como: manual do usuário e do colaborador, vídeos, cartilhas, roteiros, que possam auxiliar nos atendimentos, disseminações e capacitações. Para a disseminação e informação à população sobre as alterações genéticas estão sendo usadas redes sociais e palestras; organização e apresentação dos resultados das ações aos órgãos envolvidos e no meio científico, com 9 trabalhos apresentados em congresso, 6 resumos e 2 artigo submetidos. Assim, pretende-se contribuir para a implantação de atendimentos sistematizados e especializados para pacientes/família com alterações genéticas e/ou doenças crônicas com base na atenção integral humanizada, inclusiva e interdisciplinar, promovendo, a formação e integração entre estudantes e profissionais de diferentes áreas de conhecimento. [ABSTRACT FROM AUTHOR]

Breast cancer has a high prevalence and incidence in Brazil and worldwide, which makes it a rather subject matter, but extremely controversial and complex. Most studies address the genetic predisposition to breast cancer appearance, although the genetic influence by mutation of BRCA1 and 2 correspond to only 5 - 10% of all cases. The predictive genetic test is widely used as a source of evaluating a greater predisposition to cancer development, which is still in constant discussion. And when it comes to preventive methods the focus of this article is based on prophylactic mastectomy, a technique that can be unilateral or bilateral. Assesses positive and negative points of this method, its impact on the prognosis of breast cancer and also as genetic counseling should take place, especially in relation to patients who have mutations in BRCA1 / 2 genes. [ABSTRACT FROM AUTHOR]

Based on the principles offered by ethnomethodological Conversation Analysis, this article describes the delivery of diagnostic news in 54 audio-recorded genetic counseling consultations that happened in a public hospital ward in Brazil (Sistema Único de Saúde, SUS) specialized in moderate and high risk pregnancies. All recorded consultations were fully transcribed, but for the purposes of this study only the 18 interactions that contained diagnostic news delivery sequences were analyzed, regarding to the actions that make up such sequences. The data analysis shows that the news delivery sequence (NDS) bears characteristics of some type of pedagogical sequence that benefits the joint meaning making of the diagnosis and the coconstruction of the news itself, a task that is shared between doctor and patient. In the delivery of bad news, in particular, the processes of agentivity of the test and of disease depersonalization are identified. The study describes different linguistic-interactional practices used to deal with participants' distress and that might be used to subsidize health professionals' trainings to whom diagnosis delivery constitutes an everyday event. [ABSTRACT FROM AUTHOR]

ß-thalassemia is a genetic disease characterized by the decrease or absence of the production of ß hemoglobin chains, which can be heterozygous, presenting asymptomatically or with mild microcytic and hypochromic anemia; or homozygous, with severe hemolytic anemia, leading to musculoskeletal and developmental disorders. The aim of the present study was to analyze the Mentzer Index as an adjuvant in the diagnosis of the thalassemia trait of beta-thalassemia, given that, in its homozygous form, beta thalassemia has a clinical setting that is distinct from iron deficiency anemia or even from the beta-thalassemia trait, culminating in a hemolytic anemia with symptoms of excessive hemolysis leading to splenomegaly, anemia with significant hemoglobin deficiency, bone marrow hyperplasia and, in some cases, imminent need for blood transfusion. This is an integrative review of the Mentzer index. A bibliographic review was carried out in the electronic databases PUBMED, SciELO and Periódicos CAPES between 2016 and 2021. 12 manuscripts to be reviewed were incorporated in the present study, which needed to relate the Mentzer index to the differentiation of beta-thalassemia trait from anemia ferropenic. After reading and analyzing the articles related to this study, it was shown that the Mentzer index can be recommended for differentiating between the two pathologies with good sensitivity and specificity for the trait related to beta-thalassemia, however, in case of doubts between anemia iron deficiency and beta-thalassemia, a study with hemoglobin electrophoresis should be performed. Therefore, it is concluded that in the absence of the possibility of carrying out hemoglobin electrophoresis or hemoglobin analysis by HPLC, the Mentzer index can be used to differentiate between iron deficiency anemia and the respective beta-thalassemia trait and start treatment, however, it is necessary to point out that in the absence of response to therapy, hemoglobin electrophoresis or hemoglobin analysis by HPLC becomes an indispensable test. [ABSTRACT FROM AUTHOR]

Spinal Muscular Atrophy (SMA) is defined as a set of hereditary neurodegenerative disorders that cause phenotypic and genotypic variability, impacting the quality of life, psychosocial, emotional, and functional development of those affected. In Colombia, it is considered a rare disease due to its low prevalence, chronicity, and high complexity. The objective of this case report is to describe, characterize, and correlate phenotypically and genotypically a patient with clinical suspicion of neurodegenerative disease. The patient is a 32-year-old female with a clinical picture of equinus, varus, supination of the hindfoot, adduction of the right forefoot, and limitation in wrists with subsequent weakness and predominantly lower limb muscle atrophy, generalized areflexia, and positive Gowers sign. Given the suspicion of progressive degenerative neuromuscular disease, endocrine, neuromuscular, cardiovascular studies, sural nerve biopsy, and genetic testing are requested. The results show sural nerve biopsy with axonal loss with little demyelination, and genomic study using trio clinical exome sequencing performed using Illumina technology with identification of pathogenic clinically significant variants in the NOD 2 gene with heterozygous and DYNC2H1 gene with homozygous status. Finally, a gene interaction network is created using the GeneMania program, determining gene associations. The conclusion of this study was the diagnosis of SMA represents a challenge due to its wide phenotypic-genotypic variability. Although most patients are due to variants in the SMN1 gene, there are other non-5q genes associated with this pathology. A specific diagnosis impacts treatment, prognosis, and attributed morbidity and mortality, establishing heritability risk and genetic counseling for the sake of preventive, predictive, personalized, and participatory medicine. [ABSTRACT FROM AUTHOR]

This study aims to report the main forms of prenatal diagnosis of Pallister-Killian Syndrome for medical purposes and to better elucidate it as well as to provide adequate genetic counseling. It is an integrative review of a qualitative approach focused on the search for results for evidence-based practice that, after applying the inclusion criteria, the final sample consisted of six articles. After analyzing and discussing them, we conclude that the present topic still needs many studies and clinical practices so that there is a pattern of screening for the Syndrome in prenatal care, however, we know that the characteristic ultrasound and genetic findings already elucidate for a better diagnostic search strategy, as well as subsequent genetic family counseling. [ABSTRACT FROM AUTHOR]

To identify in the world literature the knowledge and health promotion actions promoted in higher education institutions aimed at undergraduates who live or not with Sickle Cell Disease. This is a scope review based on the Joanna Briggs Institute method guided by the Preferred Reporting Items for Systematic Reviews and Meta-Analyses Extension for Scoping Reviews (PRISMAScR). Eleven publications were selected. It was observed in the studies presented, the need to promote health promotion actions with undergraduates aimed at the discussion and production of knowledge about this disease. We sought to group similar discussions into two thematic categories: Level of knowledge and health education intervention with undergraduates about Sickle Cell Disease and Awareness of undergraduates about genetic counseling and premarital screening. There is a scarcity of studies on health promotion actions in higher education institutions with undergraduates in the health area with a focus on Sickle Cell Disease. [ABSTRACT FROM AUTHOR]

Duchenne muscular dystrophy is the most common muscle disease found in male children. Currently, there is no effective therapy available for Duchenne muscular dystrophy patients. Therefore, it is essential to make a prenatal diagnosis and provide genetic counseling to reduce the birth of such boys. We report a case of preimplantation genetic diagnosis associated with Duchenne muscular dystrophy. The couple E.P.R., 38-year-old, symptomatic patient heterozygous for a 2 to 47 exon deletion mutation in DMD gene and G.T.S., 39-yearold, sought genetic counseling about preimplantation genetic diagnosis process. They have had a 6-year-old son who died due to Duchenne muscular dystrophy complications. The couple underwent four cycles of intracytoplasmic sperm injection (ICSI) and eight embryos biopsies were analyzed by polymerase chain reaction (PCR) for specific mutation analysis, followed by microarray-based comparative genomic hybridisation (array CGH) for aneuploidy analysis. Preimplantation genetic diagnosis revealed that two embryos had inherited the maternal DMD gene mutation, one embryo had a chromosomal alteration and five embryos were normal. One blastocyst was transferred and resulted in successful pregnancy. The other embryos remain vitrified. We concluded that embryo analysis using associated techniques of PCR and array CGH seems to be safe for embryo selection in cases of X-linked disorders, such as Duchenne muscular dystrophy. [ABSTRACT FROM AUTHOR]

O SAG-UEL, Serviço de Aconselhamento Genético da Universidade Estadual de Londrina consiste em um serviço multiprofissional, composto por colaboradores de áreas como: Biologia, Psicologia, Medicina, Odontologia, Biomedicina e Design Gráfico. O SAG-UEL oferta aos usuários, gratuitamente, Aconselhamento Genético (AG) e Apoio Psicológico. Também procura transmitir, à comunidade interna e externa a universidade, informações sobre Genética Clínica, aumentando o diálogo entre as duas esferas. O objetivo deste trabalho é apresentar, por meio de um relato de experiência, o desenvolvimento multidisciplinar de uma cartilha como tecnologia de disseminação e apoio à comunidade. A cartilha apresenta esclarecimentos sobre o AG, as alterações genéticas mais comuns e as redes de apoio ao usuário, presentes nas áreas de abrangência do Serviço. Para o instrumento, foram coletadas as informações sobre redes de apoio, como contatos e atividades ofertadas por instituições públicas e privadas, que oferecem assistência física, psicológica e social aos usuários. Com a elaboração desta cartilha, pretende-se facilitar o aconselhamento e melhorar o esclarecimento dos usuários durante o AG. Além disso, com este instrumento, busca-se fortalecer os laços entre o SAG-UEL, as instituições de apoio e a comunidade externa, e disseminar conteúdos genéticos através de palestras e oficinas realizadas com os profissionais da saúde e a população. [ABSTRACT FROM AUTHOR]

Hailey-Hailey disease (HHD) is a rare autosomal dominant acantholytic dermatosis. It is characterized by a recurrent eruption of vesicles, erosions, and scaly erythematous plaques involving intertriginous areas and first occurring after puberty, mostly in the third or fourth decade. In 2000, mutations in the ATP2C1 gene on band 3q22.1, encoding the secretory pathway Ca2+/Mn2+-ATPase protein 1(hSPCA1), have been identified as the cause of HHD. We report the identification of two novel mutations of ATP2C1 gene in two Portuguese patients, which expands the spectrum of ATP2C1 mutations underlying HHD and provides useful information for genetic counseling. [ABSTRACT FROM AUTHOR]

Genetics test in predictive medicine seems to take charge of the uniqueness of any human being. Unlike preventive medicine it moves from the theoretical assumption of the knowledge of a specific individual's genetic structure and potential fragility. However, the attention paid to the gene risks placing the living and experienced body in the shadow. Sometimes, "genetic news" can make the subject in the present act like a sick person without being so, read every event in that direction, and, ultimately, fulfill the prophecy. The article goes beyond the alleged non-exceptionalism of genetic data and discusses the symbolic value that the gene has assumed and its role in reflexivity and self-perception. [ABSTRACT FROM AUTHOR]

Objective: To describe the population assisted in a genetics outpatient clinic, in a medium-sized town, with respect to diagnosis, type of inheritance, and local impact of genetic care. Methods: Medical records and genetic consultation forms from 2006 to 2018 were reviewed. The variables analyzed were age, sex, origin, current residence, reason for consultation, professional who requested evaluation, final diagnosis, additional exams and their results. Results: A total of 609 patients were seen, 65.9% aged 0 to 12 years. Genetic syndromes were suspected in 15.1%, and 11% presented developmental delay. Neurogenetic disorders stood out among adults. Mendelian inheritance was more prevalent (17.8%). Requests for genetic consultation have doubled in the last 5 years, with 44.4% due to suspected genetic syndrome. Conclusion: Genetic consultations have shown to be an important tool for inpatient care, reducing the waiting time to initiate treatment, attenuating potential associated costs, and guiding the families of patients. Outpatient care provided diagnosis and genetic counseling for users from the city and surrounding region, decreased costs and offered a training environment in medical genetics. [ABSTRACT FROM AUTHOR]

Objective: The aim of the present study was to analyze and understand the demands and profile of users of the outpatient clinic in questions so as to improve care. Method: A retrospective study was carried out that evaluated the medical records of 119 patients seen in 2018. Results: It was found that 90% of referrals for genetic evaluation were made by physicians from different specialties, with a predominance of pediatricians (19.3%), with 51.3 % of patients coming from Volta Redonda and the remainder from 14 other cities in Rio de Janeiro and Minas Gerais. Most patients (93.3%) were index cases and the rest were patients seeking genetic counseling. In the index cases, there was no gender difference and the predominant age group was between five and 9 years old. More than 50 genetic diseases were diagnosed, the most frequent being Down Syndrome, Turner Syndrome and Neurofibromatosis. Conclusion: Rare diseases have several causes, 80% of which are genetic. To treat patients with these conditions, specialized services are needed. Most of these are concentrated in the Southeast and South regions of Brazil, including the Clinical Genetics service from the UniFOA Faculty of Medicine, in Volta Redonda, state of Rio de Janeiro. The evaluated data help to understand the profile of patients and the demands of the health system of the region, making it possible to plan the training of professionals to identify patients with probable genetic diseases and organize the flow of referral to the service, incorporating a more effective logistics. [ABSTRACT FROM AUTHOR]

We report here the case of E.R.S.S. female, 43 years old, diagnosed with bilateral coloboma of choroid and retina, in order to emphasize the importance of preoperative exams, even a good shot of light projection, which is often being relegated to a negligible level in ophthalmological practice. We emphasize also that the ultrasound examination prior to the surgical indication is of paramount importance, however, this should be performed by experienced professional and the correct interpretation must be thoroughly searched for interpretative errors not become inadequate surgical clinical conduct and consequential irreparable damage. Considering all aspects and complications already mentioned in this report, coloboma to conduct before a diagnosis of this malformation should be: search for association with other eye diseases and/or systemic (CHARGE: coloboma, congenital heart defect, atresia of posterior nasal apertures with multiple anomalies), performing and monitoring treatment in case of complications (E.g. retinal detachment, amblyopia and strabismus) and prevention is made through genetic counseling. [ABSTRACT FROM AUTHOR]

Objective: To describe the case of a patient with central congenital hypothyroidism (CCH) due to a recurrent mutation in the TSHB gene, as well as to conduct a genetic study of his family. Case description: It is presented a case report of a 5-month-old boy with a delayed diagnosis of isolated CCH in whom the molecular analysis was performed 12 years later and detected a recurrent mutation (c.373delT) in TSHB gene. The parents and sister were carriers of the mutant allele. Comments: The c.373delT mutation has previously been reported in patients from Brazil, Germany, Belgium, United States, Switzerland, Argentina, France, Portugal, United Kingdom and Ireland. In summary, our case and other ones reported in the literature support the theory that this mutation may be a common cause of isolated TSH deficiency. Isolated TSH deficiency is not detected by routine TSH-based neonatal screening, representing a clinical challenge. Therefore, when possible, molecular genetic study is indicated. Identification of affected and carriers allows the diagnosis, treatment and adequate genetic counseling. [ABSTRACT FROM AUTHOR]

As a consequence of the genomic revolution, a large number of publications describing paroxysmal movement disorders have been published in the last few years, shedding light on their molecular pathology. Routine gene testing is not necessary to guide treatment for typical forms of paroxysmal kinesigenic dyskinesia (PKD), paroxysmal nonkinesigenic dyskinesia (PNKD), and episodic ataxia type 1 or 2. It can, however, be helpful in the management of atypical or complex cases, especially for genetic counselling, treatment strategies, and the offer of preimplantation genetic diagnosis. Antiepileptic drugs remain the treatment of choice for PKD and episodic ataxia type 1, benzodiazepines are often useful for PNKD, and episodic ataxia type 2 benefits from acetazolamide regardless of the genetic etiology.What the Paper Adds: A growing number of genes have been associated with classic and newly described paroxysmal movement disorders. Paroxysmal movement disorders share common mechanisms and clinical features with other neurological paroxysmal phenomena including epilepsy and migraine. [ABSTRACT FROM AUTHOR]

A genetic basis for autism spectrum disorder (ASD) is now well established, and with the availability of high-throughput microarray and sequencing platforms, major advances have been made in our understanding of genetic risk factors. Rare, often de novo, copy number and single nucleotide variants are both implicated, with many ASD-implicated genes showing pleiotropy and variable penetrance. Additionally, common variants are also known to play a role in ASD's genetic etiology. These new insights into the architecture of ASD's genetic etiology offer opportunities for the identification of molecular targets for novel interventions, and provide new insight for families seeking genetic counselling.What the Paper Adds: A number of rare genetic variants are implicated in autism spectrum disorder (ASD), with some showing recurrence. Common genetic variants are also important and a number of loci are now being uncovered. Genetic testing for individuals with ASD offers the opportunity to identify relevant genetic etiology. [ABSTRACT FROM AUTHOR]

Epidermolysis bullosa describes a group of skin conditions caused by mutations in genes encoding proteins related to dermal-epidermal adhesion. In the United States, 50 cases of epidermolysis bullosa per 1 million live births are estimated, 92% of which classified as simplex, 5% dystrophic, 1% junctional and 2% non-classified. Dystrophic epidermolysis bullosa is associated with autosomal, dominant and recessive inheritance. Epidermolysis bullosa causes severe psychological, economic and social impacts, and there is currently no curative therapy, only symptom control. Embryonic selection is available for epidermolysis bullosa patients in order to prevent perpetuation of the condition in their offspring. [ABSTRACT FROM AUTHOR]

Introduction: Prader-Willi (PWS) and Angelman (AS) are clinically different syndromes caused by loss of expression of genes located on the chromosome 15q11.2-q13, of paternal or maternal origin, respectively. Both syndromes have the same diagnostic methods. The aims of the present study were: a) to perform a molecular analysis of 123 patients with clinical findings suggestive of PWS or AS using methylation-specific PCR (MSP); b) to compare the results obtained using different molecular diagnostic methodologies; c) to standardize MSP to be used in the routine care of patients at Medical Genetics Service/Hospital de Clínicas de Porto Alegre (SGM/HCPA). Methods: 123 patients with clinical findings suggestive of PWS (n = 71) or AS (n = 52) were analyzed by MSP. 79 had undergone previous laboratory analysis by fluorescence in situ hybridization (FISH) and/or Southern blot (SB). Results: MSP detected 21 positive cases - 15 PWS (12,19%) and 6 AS (4,88%). Molecular etiology was determined in 9 patients only - 7 were diagnosed with PWS (4 had uniparental disomy- maternal UPD15-and 3 had deletions at 15q11-13) and 2 were diagnosed with AS (1 of paternal UPD15 and 1 deletion at 15q11-13). Comparing both methodologies, it was possible to observe concordant results between MSP and SB and discordant results between MSP and FISH (n = 4). We standardized two MSP methods in order to confirm the results and for internal quality control. Conclusion: The resulting profile of each technique varies according to the existing etiological mechanism. The methylation analysis by MSP technique detects changes on methylation pattern caused by deletion, UPD and imprinting defects, but it does not identify the responsible etiologic mechanism. Nevertheless, it is effective to confirm the suggestive clinical diagnosis of PWS/AS and to be used as a screening protocol. If positive results are observed, it is important to identify the underlying molecular mechanism to determine genotype-phenotype correlations and the risk of familial recurrence, which is essential for genetic counseling. [ABSTRACT FROM AUTHOR]

Weaver's syndrome is a rare genetic condition caused by mutations in heterozygosity in the EZH2 gene and characterized by overgrowth and advancement in bone age, presenting clinically with macrocephaly, prominent and prominent forehead, and with sternal depression. We report the case of a male patient, feoderma, 10 years old who attended the Pediatric Dentistry Service of the Institute of Integral Medicine Prof. Fernando Figueira - IMIP for dental treatment presenting characteristics of: high stature, ocular hypertelorism, downward oblique palpebral slits, retrognatia, deep palate, incisal wear on lower teeth and open bite. The patient's dental treatment plan included restorative procedures, diet orientation, brushing, periodontal and orthodontic evaluation. For a suitable treatment it is necessary a multidisciplinary team that includes neurology, pediatrics, speech therapy, genetic counseling, orthopedics, physiotherapy, dentistry, and psychomotor intervention, favoring a better quality of life for patients. [ABSTRACT FROM AUTHOR]

Objective: To investigate chromosomal abnormalities by CGH-array in patients with dysmorphic features and intellectual disability with normal conventional karyotype. Methods: Retrospective study, carried out from January 2012 to February 2014, analyzing the CGH-array results of 39 patients. Results: Twenty-six (66.7%) patients had normal results and 13 (33.3%) showed abnormal results - in that, 6 (15.4%) had pathogenic variants, 6 (15.4%) variants designated as uncertain and 1 (2.5%) non-pathogenic variants. Conclusion: The characterization of the genetic profile by CGH-array in patients with intellectual disability and dysmorphic features enabled making etiologic diagnosis, followed by genetic counseling for families and specific treatment. [ABSTRACT FROM AUTHOR]

Sickle cell anemia is a genetic disease in which there is a point mutation in the beta gene (β) globin due to the exchange of two amino acids (glutamic acid to valine). The disease presents clinically homozygous for hemoglobin S gene, presenting today as an important disease in terms of genetic anomalies. Because of its prevalence in Brazil, the country has taken steps in newborn screening through newborn screening, through which it is diagnosed sickle cell disease among other ailments. Currently there is a growing number of individuals heterozygous for the said disease (sickle cell trait), so it is very important the realization of genetic counseling, aiming to provide to individuals heterozygous for the disease, information about this risk to their offspring. This work deals with is a bibliographical review in order to carry out a general explained about the current reality of sickle cell disease before the public health setting. [ABSTRACT FROM AUTHOR]

Breast cancer is a malignant neoplasm characterized by uncontrolled proliferation of abnormal cells, has a high degree of aggressiveness due to genetic modification and its ability to spread to other organs. One of the most significant risk factors when it comes to breast cancer is family history, which maybe related to mutations in the BRCA1 and BRCA2 genes knownas tumor suppressor responsible for main taining the integrity of DNA, changes in these genes can lead to variations in transcription and in DNA repair path ways, thus causing an accumulation of mutation sand the tumor. Currently it is possible to detect a genetic mutation before the tumor, in the case of individual swith significant family history and genetic counseling is valid, a pre-diagnosis greatly reduces the risk of the disease and to reassure the individual and prevent further problems. [ABSTRACT FROM AUTHOR]

Porphyria cutanea tarda (PCT) is a disorder of porphyrin metabolism with associated skin photosensitivity, which presents with vesicolobullous lesions, atrophic scars and frequently signs of liver damage. Herditary hemochromathosis (HH) is the most frequent autosomic recessive genetic disease. We present the case of a previous healthy 38 years old patient that came to our office with blisters in face, extensor surfaces of arms and on the dorsum of his hands associated with hypertrichosis in zygomatic area and milia on the dorsum of the hands. Laboratory tests showed serum and urinary porphyrins level, serum iron level and ferritin exceeding the normal range. A diagnosis of porphyria cutanea tarda was reached based on clinical presentation, histopathological examination and laboratory results. Genetic studies on Hereditary Hemochromathosis mutations showed a compound heterozygote patient for the most common mutations: C282Y, H63D. Porphyria cutanea tarda can be an important cutaneous marker for patients with mutations of the HH gene. Skin signs can have a key role in early diagnosis, avoiding future complications, and requesting genetic counseling and genetic testing for the children of the affected patients. [ABSTRACT FROM AUTHOR]

The objective of the following work is to document the phenotypic expression variability in Best Disease in first-degree relatives. The information was collected by assessing medical notes, interviewing the patient and obtaining photographic record of the diagnostic methods to which the patient was submitted. Data was analyzed along with a thorough review of the literature. A series of cases were reported in which the patient presenting the phenotypic characteristics of the disease has first degree relatives without ophthalmic findings during examination, but present an abnormal pattern on the electro-oculogram (EOG). Our article reveals the importance of electrophysiological exams in the diagnosis of Best vitelliform macular dystrophy, including the prevention of its clinical manifestation (autosomal dominant), providing concrete subsidies for genetic counseling. [ABSTRACT FROM AUTHOR]

Junctional epidermolysis bullosa is a group of inherited blistering diseases characterized by increased skin fragility, blisters and erosions after minor trauma, due to tissue cleavage at the dermal-epidermal junction. We report the case of a male Caucasian infant, born with erosions and tense blisters on the hands, abdomen and scalp. Immunoflurescence antigen mapping revealed paucity of collagen XVII immunolabelling, compatible with the diagnosis of non-Herlitz junctional epidermolysis bullosa. Molecular analysis of the COL17A1 gene revealed compound heterozygosity for two frameshift mutations. Family history was positive for a brother with a bullous dermatosis, who died from sepsis on the 3rd week of life without a definitive diagnosis that could enable precise risk estimation and prenatal diagnosis. We emphasize the importance of rapid referral to specialized centers, to provide early accurate diagnosis, adequate clinical management and prenatal diagnosis in subsequent pregnancies. [ABSTRACT FROM AUTHOR]

This article presents the results from a survey of high school senior students enrolled in two schools, one public and one private, located in the town of Santa Maria, Rio Grande do Sul state, Brazil. The study aimed to identify the student's knowledge on genetics and its relationships after one year of studying the contents at school. Qualitative and quantitative approaches were used by means of a questionnaire with questions on genetics contents and their correlations, modified from college admission exams. Results showed that students present misconceptions related to several issues on genetics, such as the mitochondrial DNA inheritance, the production of clones and transgenic organisms, the human genome project, relationships among genotype, phenotype and environment. The acquisition of correct conceptions related to genetics is essential for the understanding, by the students, of the several technologies involving DNA manipulation, and thereby allowing the conditions to opine and make choices in situations related to the subject, as in the case of transgenic food and genetic counseling. Thus, it is necessary to review the teaching processes so that students can have access to correct knowledge, and scientific literacy occurs at school. [ABSTRACT FROM AUTHOR]

Ehlers-Danlos syndrome (EDS) type IV, also known as the vascular type of EDS, is an inherited connective tissue disorder with an estimated prevalence between 1/100,000 and 1/250,000. In EDS type IV, vascular complications may affect all anatomical areas, with a preference for large- and medium-sized arteries. Dissections of the vertebral and carotid arteries in their extra- and intra-cranial segments are typical. The authors report the case of a patient with EDS type IV in which the syndromic diagnosis was established based on clinical signs and who developed internal carotid artery dissection at the age of 44 years. In the absence of a specific treatment for EDS type IV, medical interventions should focus on symptomatic relief, prophylactic measures, and genetic counseling. Invasive imaging techniques are contraindicated, and a conservative approach to vascular complications is usually recommended. [ABSTRACT FROM AUTHOR]

The hereditary anemias are among the most common genetic diseases and conditions include a group of variable complexity. The thalassemias are a heterogeneous group of hereditary diseases characterized by total or partial deficiency of the synthesis of alpha or beta globin, ranking respectively as alpha thalassemia and beta thalassemia. The severity of this disease is associated with the degree of impairment of expression of the alpha chain, and one of the four altered genes, characterizing asymptomatic patients or even incompatible with life. In this regard, we emphasize that the study objective is to determine the frequency of microcytic anemia caused by alpha thalassemia and also determine the prevalence of the condition in the population of Maringá - PR. We selected 89 samples from patients with microcytic anemia characterized of which were stained with brilliant cresyl blue for research Hemoglobin H (HbH) intraerythrocytic. The results showed that 2,2% of samples were from patients with thalassemia. We conclude that there is a need for further epidemiological studies to characterize popular site studied as well as use of quantitative methods for the classification of thalassemia and the importance of genetic counseling for thalassemia patients identified in the study. [ABSTRACT FROM AUTHOR]

The hereditary anemias are among the most common genetic diseases and conditions include a group of variable complexity. The thalassemias are a heterogeneous group of hereditary diseases characterized by total or partial deficiency of the synthesis of alpha or beta globin, ranking respectively as alpha thalassemia and beta thalassemia. The severity of this disease is associated with the degree of impairment of expression of the alpha chain, and one of the four altered genes, characterizing asymptomatic patients or even incompatible with life. In this regard, we emphasize that the study objective is to determine the frequency of microcytic anemia caused by alpha thalassemia and also determine the prevalence of the condition in the population of Maringá - PR. We selected 89 samples from patients with microcytic anemia characterized of which were stained with brilliant cresyl blue for research Hemoglobin H (HbH) intraerythrocytic. The results showed that 2,2% of samples were from patients with thalassemia. We conclude that there is a need for further epidemiological studies to characterize popular site studied as well as use of quantitative methods for the classification of thalassemia and the importance of genetic counseling for thalassemia patients identified in the study. [ABSTRACT FROM AUTHOR]

Purpose: to assess the prevalence of hearing loss in a newborn hearing screening program and investigate mutations in the GJB2 gene in those with suspected hearing loss. Method: we performed longitudinal study of 908 term infants, post-term and preterm infants who underwent hearing screening by the test Emission Transient Evoked Otoacoustic (EOA-T) and cochlear palpebral reflex. For newborns, those who failed the hearing screening in one or both ears, were referred to a second evaluation. In the retest, while the EOA-T test result in not passing on one or both ears, the child was referred for evaluation and otorhinolaringology management. After completing the Auditory Evoked Potential test, the team of evaluators decided whether it should refer the child to investigate the mutation. When there was suspicion of hearing impairment we collected 3 mL of peripheral venous blood for the detection of mutation in the connexin 26 gene. Results: we observed the presence of conductive hearing loss in 2 neonates (0.22%) and sensorineural in 1 (0.11%). In children with sensorineural hearing loss we detected the presence of 35delG mutation. Conclusion: the audiological assessment in conjunction with molecular tests of the main GJB2 gene mutations in newborns with suspected hearing loss contributed to the rapid audiological diagnostic, seeking early intervention, educational and genetic counseling and prognosis of the child. [ABSTRACT FROM AUTHOR]

The optic neuropathy of Kjer, or dominant optic atrophy, is the most common among optic neuropathies. iI is an optical atrophy of dominant autosomal character that is caused by an alteration in the gene on chromosome 3q28 with OPA1 penetration of 98% Only 15% of cases have visual acuity of 0.1 or worse, while demonstrating different grades of atrophy of the disc. This report aims to describe the genetic and clinical characteristics, and methods of family counseling through the presentation of a case of dominant optic atrophy with severe loss of visual acuity, together with the onset of unusually late and bilateral hearing loss. [ABSTRACT FROM AUTHOR]

A distrofia muscular de Duchenne (DMD) é uma doença progressiva, hereditária, de caráter recessivo, ligada ao cromossomo X, não muito rara, severa, que atinge aproximadamente 1 em cada 3.500 meninos tendo a expectativa de vida de 18 a 25 anos devido a complicações. Manifesta-se por volta dos 5 anos, com quedas frequentes, devido ao enfraquecimento muscular ascendente, gradual, simétrico e bilateral. Com a evolução da doença, há o comprometimento dos músculos respiratórios e/ou dos músculos cardíacos. Vale destacar que o diagnóstico é feito através da clínica, história familiar, dosagem de creatina quinase e teste genético. Contudo, não há um tratamento especifico, porém os glicocorticoides podem ser prescritos, pois trazem benefícios para o paciente, inclusive na função motora, podendo assim reduzir complicações e retardar a progressão da doença, apesar de não haver cura. Portanto, o reconhecimento precoce é essencial e o tratamento preventivo é necessário para retardar a evolução da doença, além do aconselhamento genético. A pesquisa tem como objetivo discutir a clínica, diagnóstico, o tratamento e o prognóstico do paciente com DMD. Foi realizada uma revisão narrativa, com abordagem qualitativa e descritiva, utilizando as bases de dados Scielo, Pubmed e Science Direct, usando palavras chaves: “Distrofia muscular”,“Duchenne”,“Distrofia muscular de Duchenne”. [ABSTRACT FROM AUTHOR]

A distrofia muscular de Duchenne (DMD) é uma doença progressiva, hereditária, de caráter recessivo, ligada ao cromossomo X, não muito rara, severa, que atinge aproximadamente 1 em cada 3.500 meninos tendo a expectativa de vida de 18 a 25 anos devido a complicações. Manifesta-se por volta dos 5 anos, com quedas frequentes, devido ao enfraquecimento muscular ascendente, gradual, simétrico e bilateral. Com a evolução da doença, há o comprometimento dos músculos respiratórios e/ou dos músculos cardíacos. Vale destacar que o diagnóstico é feito através da clínica, história familiar, dosagem de creatina quinase e teste genético. Contudo, não há um tratamento especifico, porém os glicocorticoides podem ser prescritos, pois trazem benefícios para o paciente, inclusive na função motora, podendo assim reduzir complicações e retardar a progressão da doença, apesar de não haver cura. Portanto, o reconhecimento precoce é essencial e o tratamento preventivo é necessário para retardar a evolução da doença, além do aconselhamento genético. A pesquisa tem como objetivo discutir a clínica, diagnóstico, o tratamento e o prognóstico do paciente com DMD. Foi realizada uma revisão narrativa, com abordagem qualitativa e descritiva, utilizando as bases de dados Scielo, Pubmed e Science Direct, usando palavras chaves: “Distrofia muscular”,“Duchenne”,“Distrofia muscular de Duchenne”. [ABSTRACT FROM AUTHOR]

O objetivo deste trabalho é apresentar os aspectos bio-psico-sociais, que acometem mulheres com Síndrome de Turner, alteração cromossômica numérica 45X,0, exigindo atenção interdisciplinar. O estudo foi realizado pela psicologia em parceria com a medicina, através da leitura e análise dos prontuários médicos de 17 pacientes, atendidas pelo setor de Endocrinologia do Hospital das Clínicas de Londrina. Os dados foram tabulados em planilhas do Excel, resultando em gráficos percentuais. Os prontuários foram preenchidos pelos médicos, ao longo dos anos com: dados pessoais; queixas iniciais; características físicas; estatura e peso; diagnóstico; internações, exames, medicamentos, cirurgias, encaminhamentos e patologias associadas; relacionamentos afetivos e atividade sexual; questões emocionais e sociais; questões escolares e observações gerais. Principais resultados: 70% das pacientes tinham de 24-29 anos e acima de 35 anos, divido igualmente; 70% são de Londrina; 65% são solteiras; 33% são estudantes; 43% possuem rendimento escolar normal; 50% relataram sofrerem Bullying; cariótipo mais frequente foi 45X,0 (47%); 47% receberam diagnóstico na adolescência e 41% na infância; todas fizeram o exame USG; 65% são acompanhadas pela ortopedia e 100%pela endocrinologia; 77% tem baixa estatura; 35% das pacientes tiveram relacionamentos afetivos; 8% são sexualmente ativas e 53% das pacientes desejam ser mãe. Tais dados demonstram que essas mulheres podem se beneficiar com uma atuação interdisciplinar, com atendimentos psicoterapêuticos e psiceducativos com as pacientes/familiares, com consultas médicas melhor direcionadas para a sua problemática, além da criação de recursos educativos com o Design, que possam ser usados com essa população, assim como informar e conscientizar a comunidade em geral. [ABSTRACT FROM AUTHOR]

O trabalho multidisciplinar em contextos de saúde é fundamental, considerando que o direcionamento dos atendimentos reflete no diagnóstico e tratamento. O olhar voltado ao paciente de forma integral levantou questões sobre a comunicação entre as áreas profissionais, com relação aos cuidados produzidos frente a uma patologia. Assim, o presente trabalho objetivou apresentar a construção de um Protocolo para o atendimento de pacientes com Síndrome de Turner, assistidas pelo Ambulatório Hospital de Clínicas da Universidade Estadual de Londrina (AHC-UEL). Com este Protocolo, pretende-se promover coletas e acompanhamentos mais completos e uniformes em um modelo de Projeto Terapêutico Singular. As etapas da construção do Protocolo Inicial foram: a produção da parte médica, seguida da psicológica e, por fim, a de serviços sociais, com a participação e revisão de docentes das três áreas de atuação. A parte médica foi baseada em um modelo de triagem utilizado pelos alunos de medicina, mesclando-se itens discursivos, de autorrelato e check-list, além de um campo destinado a anotações de exames e encaminhamentos. Para a Psicologia foram abordados desdobramentos emocionais que poderiam estar vinculados às questões abarcadas pela parte médica, tais como: discriminações, cuidados com o corpo, transtornos alimentares entre outros. A parte de Serviço Social foi produzida com o objetivo de verificar questões relacionadas a redes de apoio, renda familiar e vínculos sociais e familiares. Atualmente, o instrumento desenvolvido está em fase de aplicação, com a intenção de verificar sua funcionalidade, alcances e limites. [ABSTRACT FROM AUTHOR]

Mortality due to breast cancer could be reduced via screening programs where preliminary clinical tests employed in an asymptomatic well-population with the objective of identifying cancer biomarkers could allow earlier referral of women with altered results for deeper clinical analysis and treatment. The introduction of well-population screening using new and less-invasive technologies as a strategy for earlier detection of breast cancer is thus highly desirable. Herein, spectrochemical analyses harnessed to multivariate classification techniques are used as a bio-analytical tool for a Breast Cancer Screening Program using liquid biopsy in the form of blood plasma samples collected from 476 patients recruited over a 2-year period. This methodology is based on acquiring and analysing the spectrochemical fingerprint of plasma samples by attenuated total reflection Fourier-transform infrared spectroscopy; derived spectra reflect intrinsic biochemical composition, generating information on nucleic acids, carbohydrates, lipids and proteins. Excellent results in terms of sensitivity (94%) and specificity (91%) were obtained using this method in comparison with traditional mammography (88–93% and 85–94%, respectively). Additional advantages such as better disease prognosis thus allowing a more effective treatment, lower associated morbidity, fewer false-positive and false-negative results, lower-cost, and higher analytical frequency make this method attractive for translation to the clinical setting. [ABSTRACT FROM AUTHOR]