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OBJECTIVE: To systematically review the literature regarding the concordance of sleep bruxism (SB) between monozygotic (MZ) and dizygotic (DZ) twins. METHODS: The registration for this systematic review was accomplished in the International Prospective Register of Systematic Reviews (PROSPERO, No. CRD42021251751). As of July 2022, four databases were searched, including PubMed, Scopus, Embase, and Web of Science, as well as the grey literature in Google Scholar and OpenGrey. Observational studies evaluating SB in MZ and DZ twins of any age and sex were included. For the evaluation of the risk of bias, the Joanna Briggs checklist was utilized. The certainty of evidence was assessed via the Grading of Recommendations Assessment, Development, and Evaluation (GRADE) system. Pooled and subgroup meta-analyses were performed to estimate concordance of SB ​​between twins (p < 0.05). RESULTS: In total, 3,155 records were identified. In the qualitative analysis, eleven studies were included; of these, seven were included in the meta-analysis. The majority of the articles exhibited a low risk of bias (63.6%). Greater SB concordance was observed between MZ twins than between DZ twins in the analysis of general concordance (OR = 1.47; 95% CI = 1.07-2.02) and also positive concordance (OR = 1.53; 95% CI = 1.29-1.81). Within the subgroup analyses, the significance of the findings remained only for the reported/self-reported SB regarding general concordance (OR = 1.44; 95% CI = 1.07-1.95) and positive concordance (OR = 1.55; 95% CI = 1.28-1.88). Low certainty of the evidence was observed for the general concordance analysis, while moderate certainty was observed for the positive concordance. CONCLUSION: There was a higher concordance of SB in MZ twins compared to DZ twins, indicating a possible genetic influence on the condition's occurrence.

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Endometriosis is a complex disease that affects 10-15% of women of reproductive age. Familial studies show that relatives of affected patients have a higher risk of developing the disease, implicating a genetic role for this disorder. Little is known about the impact of germline genomic copy number variant (CNV) polymorphisms on the heredity of the disease. In this study, we describe a rare CNV identified in two sisters with familial endometriosis, which contain genes that may increase the susceptibility and progression of this disease. We investigated the presence of CNVs from the endometrium and blood of the sisters with endometriosis and normal endometrium of five women as controls without the disease using array-CGH through the Agilent 2x400K platform. We excluded common CNVs that were present in the database of genomic variation. We identified, in both sisters, a rare CNV gain affecting 113kb at band 3q12.2 involving two candidate genes: ADGRG7 and TFG. The CNV gain was validated by qPCR. ADGRG7 is located at 3q12.2 and encodes a G protein-coupled receptor influencing the NF-kappaß pathway. TFG participates in chromosomal translocations associated with hematologic tumor and soft tissue sarcomas, and is also involved in the NF-kappa B pathway. The CNV gain in this family provides a new candidate genetic marker for future familial endometriosis studies. Additional longitudinal studies of affected families must confirm any associations between this rare CNV gain and genes involved in the NF-kappaß pathway in predisposition to endometriosis.

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Resumo Este artigo reflete sobre a noção antropológica de animatismo, um estádio pré-animista da humanidade, à qual Freud recorreu em Totem e tabu. Com ela, ampliou seu objetivo de revelar a origem da religião e da moralidade, estendendo-o à origem e ao destino da humanidade. Objetivo que também perseguiu em interlocução com as teorias psiquiátricas da hereditariedade e da degeneração dos séculos XVIII e XIX. Teorias concebidas por Tissot, Pinel, Lucas, Morel, Esquirol, Magnan, Legrain, Charcot, entre outros, sumariamente apresentadas neste artigo. Por fim, este artigo também apresenta e põe em discussão algumas obras de Freud, nas quais as teorias da hereditariedade e da degeneração foram ressignificadas sob as de fixação e regressão, ampliando os fundamentos do que seria sua filosofia psicanalítica declinista da história, reveladora de um novo sentido e direção tanto para a origem, quanto para o destino da humanidade.

Abstract This article reflects on the anthropological notion of animatism, a pre-animist stage of humanity, to which Freud resorted in Totem and Taboo. With it he broadened his aim of revealing the origin of religion and morality, extending it to the origin and destiny of humanity. An objective that he also pursued in dialogue with the psychiatric theories of heredity and degeneration of the 18th and 19th centuries. Theories conceived by Tissot, Pinel, Lucas, Morel, Esquirol, Magnan, Legrain, Charcot, among others, are briefly presented in this article. Finally, this article also presents and discusses some works by Freud, in which the theories of heredity and degeneration were resignified under those of fixation and regression, expanding the foundations of what would be his declinist psychoanalytic philosophy of history, revealing a new meaning and direction for both the origin and the destiny of humanity.

Resumen Este artículo reflexiona sobre la noción antropológica de animatismo, etapa preanimista de la humanidad, a la que recurrió Freud en Tótem y tabú. Con ella amplió su objetivo de revelar el origen de la religión y la moral, extendiéndolo al origen y destino de la humanidad. Un objetivo que también persiguió en diálogo con las teorías psiquiátricas de la herencia y la degeneración de los siglos XVIII y XIX. En este artículo se presentan brevemente las teorías concebidas por Tissot, Pinel, Lucas, Morel, Esquirol, Magnan, Legrain, Charcot, entre otros. Finalmente, este artículo también presenta y discute algunos trabajos de Freud, en los que las teorías de la herencia y la degeneración fueron resignificadas bajo las de la fijación y la regresión, ampliando los fundamentos de lo que sería su filosofía psicoanalítica declinista de la historia, revelando un nuevo sentido y dirección tanto para el origen como para el destino de la humanidad.

Résumé Cet article reflète sur la notion anthropologique d'animatisme, un stade préanimiste de l'humanité auquel Freud a fait recours dans son texte Totem et Tabu. Avec cette notion, il amplifie son objectif de révéler l'origine de la religion et de la moralité afin d'aussi aborder l'origine et le destin de l'humanité. Cet objectif a été poursuivi dans un dialogue constant avec les théories psychiatriques de l'hérédité et de la dégénérescence du XVIIIe et du XIXe siècle. Les théories conçues par Tissot, Pine, Lucas, Morel, Esquirol, Magnan, Legrain, Charcot, entre autres, seront brièvement présentées dans cet article. Enfin, cet article propose aussi de présenter et mettre en débat quelques travaux de Freud, où les théories de l'hérédité et de la dégénération ont été resignifiées pour ce qui est des concepts de fixation et de régression, élargissant ainsi les fondements de ce qu'on pourrait appeler sa philosophie psychanalytique décliniste de l'histoire, une philosophie révélatrice d'un nouveau sens et d'une nouvelle direction concernant l'origine et le destin de l'humanité.

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Abstract Endometriosis is a complex disease that affects 10-15% of women of reproductive age. Familial studies show that relatives of affected patients have a higher risk of developing the disease, implicating a genetic role for this disorder. Little is known about the impact of germline genomic copy number variant (CNV) polymorphisms on the heredity of the disease. In this study, we describe a rare CNV identified in two sisters with familial endometriosis, which contain genes that may increase the susceptibility and progression of this disease. We investigated the presence of CNVs from the endometrium and blood of the sisters with endometriosis and normal endometrium of five women as controls without the disease using array-CGH through the Agilent 2x400K platform. We excluded common CNVs that were present in the database of genomic variation. We identified, in both sisters, a rare CNV gain affecting 113kb at band 3q12.2 involving two candidate genes: ADGRG7 and TFG. The CNV gain was validated by qPCR. ADGRG7 is located at 3q12.2 and encodes a G protein-coupled receptor influencing the NF-kappaβ pathway. TFG participates in chromosomal translocations associated with hematologic tumor and soft tissue sarcomas, and is also involved in the NF-kappa B pathway. The CNV gain in this family provides a new candidate genetic marker for future familial endometriosis studies. Additional longitudinal studies of affected families must confirm any associations between this rare CNV gain and genes involved in the NF-kappaβ pathway in predisposition to endometriosis.

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A amiloidose renal familiar é uma doença incomum em cães, que afeta os rins e está associada ao acúmulo anormal de proteínas amiloides, com capacidade de promover danos orgânicos progressivos com comprometimento de funcionalidade. Caracterizada pela presença de conteúdo proteináceo glomerular, a amiloidose frequentemente está associada a quadros de falência renal, com presença de sinais clínicos variados, sendo uma condição grave e complexa. O presente artigo tem como objetivo descrever os achados clínico-laboratoriais, de imagem e histopatológicos de amiloidose familiar em dois cães da raça Shar-pei. Os animais apresentavam parentesco direto e evidenciavam sinais de cansaço, prostração e emagrecimento progressivo. As evidências clínico-laboratoriais e ultrassonográficas sugeriram a presença de glomerulonefropatia, sendo essa confirmada por exame histopatológico. Os dois cães, diante da gravidade do quadro, foram a óbito. A análise histopatológica evidenciou deposição de material proteináceo fibrilar na região glomerular e tubular, bem como infiltrado linfoplasmocítico, característicos de amiloidose renal. É essencial lembrar que a amiloidose renal familiar em cães é uma doença complexa e que as origens devem ser investigadas. O tratamento é desafiador, diante da inexistência de um manejo terapêutico definido para a doença, sendo este muitas vezes ineficaz. A empatia e o cuidado no manejo dessa condição podem ajudar a melhorar a qualidade de vida do paciente e fornecer conforto ao proprietário durante esse processo desafiador.

Family renal amyloidosis is an uncommon disease in dogs, which affects the kidneys and is associated with abnormal accumulation of amyloid proteins, capable of promoting progressive organic damage with impairment of functionality. Characterized by the presence of glomerular proteinaceous content, amyloidosis is often associated with renal failure, with the presence of varied clinical signs, being a serious and complex condition. This article aims to describe the clinical, laboratory, imaging and histopathological findings of familial amyloidosis in two Shar-pei dogs. The animals were directly related and evidenced signs of tiredness, prostration and progressive weight loss. Clinical, laboratory and ultrasonographic evidence suggested the presence of glomerulonephropathy, which was confirmed by histopathological examination. The two dogs, given the severity of the condition, died. Histopathological analysis showed deposition of fibrillar proteinaceous material in the glomerular and tubular region, as well as lymphoplasmocytic infiltrate, characteristic of renal amyloidosis. It is essential to remember that family renal amyloidosis in dogs is a complex disease and that the origins must be investigated. The treatment is challenging, given the lack of a defined therapeutic management for the disease, which is often ineffective. Empathy and care in managing this condition can help improve the patient's quality of life and provide comfort to the owner during this challenging process.

La amiloidosis renal familiar es una enfermedad poco común en perros, que afecta a los riñones y se asocia con la acumulación anormal de proteínas amiloides, con capacidad de promover daño orgánico progresivo con compromiso de la funcionalidad. Caracterizada por la presencia de contenido proteico glomerular, la amiloidosis suele asociarse a insuficiencia renal, con la presencia de signos clínicos variados, siendo una afección grave y compleja. El presente artículo tiene como objetivo describir los hallazgos clínico-laboratorios, imagenológicos e histopatológicos de la amiloidosis familiar en dos perros Sharpei. Los animales estaban directamente emparentados y presentaban signos de cansancio, postración y pérdida progresiva de peso. Los datos clínico-laboratorios y ecográficos sugirieron la presencia de glomerulonefropatía, la cual fue confirmada mediante examen histopatológico. Los dos perros, dada la gravedad del cuadro, fallecieron. El análisis histopatológico mostró depósito de material proteico fibrilar en la región glomerular y tubular, así como infiltrado linfoplasmocitario, característico de la amiloidosis renal. Es fundamental recordar que la amiloidosis renal familiar en perros es una enfermedad compleja y que es necesario investigar sus orígenes. El tratamiento es un desafío, dada la falta de un manejo terapéutico definido para la enfermedad, que muchas veces resulta ineficaz. La empatía y el cuidado en el manejo de esta afección pueden ayudar a mejorar la calidad de vida del paciente y brindar comodidad al propietario durante este desafiante proceso.

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The long 19th century was a period of many developments and technical innovations in agriculture and animal biology, during which actors sought to incorporate new practices in light of new information. By the middle of the century, however, while heredity steadily became the dominant concept in animal husbandry, some policies related to livestock improvement in Brazil seemed to have been tailored following a climate-deterministic concept established in the mid-18th century by the French naturalist Georges-Louis Leclerc, the Comte de Buffon. His theory of animal degeneration posited, among other things, the necessity of recurrent crossbreeding to preserve animal species living in nonnative environments from climate-induced degeneration. Although largely discredited by the early 19th century, the teachings of the French naturalist seem to have found supporters in a Brazilian program to modernize national agriculture through the application of the natural sciences. Herein I examine the revival of Buffon's theories in that government-sponsored program to improve animal husbandry and breeding techniques, including actual applications of this theory in the real world. Ultimately, I argue that Buffon's theory of degeneration was used to tailor public policies and funding for the improvement of domesticated animals in Brazil between 1856 and 1860.

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ABSTRACT Purpose: to investigate genetic recurrence and molecular markers for dyslexia in two candidate genes in the Brazilian population. Methods: a cross-sectional, case-control, observational study, with five single nucleotide polymorphisms (SNPs) studied in DYX1C1 and KIAA0319 genes in 86 subjects with dyslexia and 66 controls, matched for gender and age. SNPs were genotyped using the polymerase chain reaction technique in real time, and distribution of genotypic and allelic frequencies between the groups was analyzed. Results: it was determined that 68% of the subjects with dyslexia present a family history of learning difficulties. The DYX1C1 gene did not demonstrate an association with dyslexia, which was found regarding the rs9461045 marker of the KIAA0319 gene. Conclusion: a family history of learning problems was present in more than two-thirds of the group with dyslexia, indicating that this is an important risk factor. An association with dyslexia in the rs9461045 marker was noted, making the study the first one to show an association of the KIAA0319 gene with dyslexia, in Latin America.

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A tese versa sobre a susceptibilidade hereditária para o câncer de mama sob um olhar socioantropológico. O tema apresenta relevância em função da atual valorização da genética na área da oncologia e dos impactos que esse campo da medicina produz na vida das pessoas e famílias envolvidas. A partir de uma produção etnográfica, buscou-se compreender como a prática do aconselhamento genético interfere em diversos planos da vida de mulheres com câncer de mama hereditário, como o psicoafetivo, social e familiar, atendidas por um instituto oncológico de pesquisa, pertencente ao setor privado de saúde. Para investigação metodológica, utilizou-se um conjunto de dados empíricos: entrevistas semiestruturadas com mulheres com (suspeita de) câncer de mama hereditário, observação de consultas com o serviço de genética e documentos online relativos à hereditariedade da doença na mama. Como resultados, constatou-se de que modos às percepções biomédicas acerca da noção de risco atravessaram a produção de subjetividades, identidades e coletividades das interlocutoras. Outros pontos explorados nas narrativas foram: as repercussões, individuais e coletivas, ocasionadas pela experiência do aconselhamento genético e o entrelaçamento da doença e da hereditariedade a outras vivências de cunho individual. O estudo visou contribuir a dar visibilidade às experiências e as demandas das mulheres investigadas e somar aos estudos risco, biotecnologias e subjetividades.AU

This thesis is about hereditary susceptibility to breast cancer from a socio-anthropological perspective. The theme is relevant due to the current appreciation of the genetics field in the oncological area and the impact on the lives of people and families involved. From an ethnographical starting point, how genetic counselling interferes with the life planning of women with hereditary breast cancer breast in areas such as psycho-affective, social and familiar. The search was conducted in an oncological research institute that belongs to the private healthcare system. For the methodological research, it was used a set of empirical data: semi-structured interviews with (suspected) hereditary breast cancer; participant observation of genetic consultations and online documents related to the heredity of the disease in the breast. As result, it has been noticed how the biomedical perceptions about the notion of risk cross through to the interlocutors' subjective productions, identities and sense of collective. Another aspect of the narratives is the relationship of genetics with oncological illness. It also stands out the individual and collective repercussions caused by the experience of genetic counselling and the intertwining of the disease and heredity with other individual experiences. The study aimed to contribute to giving visibility to the experiences and demands of the women investigated and also to add studies of the risk, biotechnologies and subjectivities.AU

La tesis aborda la susceptibilidad hereditaria al cáncer de mama desde una perspectiva socio-antropológica. El tema es relevante debido a la actual valorización de la genética en el área de la oncología y a los impactos que ese campo de la medicina tiene en la vida de las personas y familias. Con base en una producción etnográfica, buscamos comprender cómo la práctica del asesoramiento genético interfiere en diferentes áreas de la vida de mujeres con cáncer de mama hereditario, como el psicoafectivo, social y familiar, asistidas por un instituto de investigación oncológica, perteneciente al sector privado del cuidado de la salud. La investigación se fundamenta en un conjunto de datos empíricos: entrevistas semiestructuradas con mujeres con (sospecha de) cáncer de mama hereditario, observación de consultas en el servicio de genética y documentos en línea relacionados con la herencia familiar de la enfermedad. Como resultado, se constató como las percepciones sobre la biomedicina sobre la noción de riesgo atraviesan la producción de subjetividades, identidades y colectividades de las interlocutoras. Otros puntos explorados en las narrativas fueron: las repercusiones individuales y colectivas provocadas por la experiencia de la consejería genética y el entrelazamiento de la enfermedad y la herencia con otras experiencias de carácter individual. El estudio pretendió dar visibilidad a las experiencias y demandas de las mujeres investigadas y contribuir a los estudios sobre riesgo, biotecnologías y subjetividades. AU

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RESUMEN Fundamento: la cardiopatía isquémica es una entidad nosológica de origen multifactorial con predisposición genética y susceptible a cambios ambientales. Objetivo: determinar la existencia de agregación familiar para cardiopatía isquémica en pacientes atendidos en consulta de cardiología en el Hospital General Docente Vladimir Ilich Lenin de Holguín. Métodos: se realizó un estudio observacional, analítico de casos y controles (estudio de agregación familiar). La muestra quedó conformada por 60 nuevos pacientes con el diagnóstico de cardiopatía isquémica (casos) y por otros 60 pacientes sin diagnóstico de enfermedad coronaria (controles), pareadas en la razón 1:1. Se emplearon como variables: sexo, edad, antecedentes familiares de cardiopatía isquémica y factores de riesgo ambientales. Se utilizó el estadígrafo Chi cuadrado. Luego se calculó el Odds Ratio para conocer la magnitud de asociación mediante la razón de productos cruzados. Resultados: en el grupo casos existió una mayor frecuencia en el antecedente familiar para cardiopatía isquémica, fue más elevada para los familiares de primer grado con 31 familiares y un 41,3 %. La hiperlipidemia se presentó como el factor de riesgo de mayor frecuencia con 36,7 % en el grupo casos y 37,1 % en el grupo controles. Se determinó un riesgo aproximadamente 4 veces mayor de padecer cardiopatía isquémica en aquellos individuos con historia familiar positiva de primer grado, mientras que los pacientes con hiperlipidemia tienen 4,8 más riesgo de padecer cardiopatía isquémica. Conclusiones: existe agregación familiar para cardiopatía isquémica y se mostró un riesgo mayor de enfermar los pacientes con historia familiar positiva para la enfermedad, principalmente con familiares de primer grado y con hiperlipidemia.

ABSTRACT Background: ischemic heart disease is a nosological entity of multifactorial origin with genetic predisposition and susceptible to environmental changes. Objective: to determine the existence of familial aggregation for ischemic heart disease in patients seen in the cardiology clinic at the Vladimir Ilich Lenin General Teaching Hospital in Holguín. Methods: an analytical observational study of cases and controls (family aggregation study) was carried out. The sample was made up of 60 new patients with a diagnosis of ischemic heart disease (cases) and another 60 patients without a diagnosis of coronary heart disease (controls), paired in a 1:1 ratio. The following variables were used: sex, age, family history of ischemic heart disease and environmental risk factors: smoking, hyperlipidemia, high blood pressure and sedentary lifestyle. The Chi square statistician was used by the Mantel-Haenszel method. The odds ratio (OR) was then calculated to determine the magnitude of association through the ratio of cross products. Results: in the case group there was a higher frequency in the family history for ischemic heart disease, being higher for first degree relatives with 31 relatives and 41.3 %. Hyperlipidemia was the most frequent risk factor with 36.7 % in the case group and 37.1 % in the control group. An approximately 4-fold increased risk of suffering from ischemic heart disease was determined in those individuals with a positive first-degree family history, while patients with hyperlipidemia have a 4.8 times greater risk of suffering from ischemic heart disease. Conclusions: there is family aggregation for ischemic heart disease and a higher risk of getting sick was shown in patients with a positive family history for the disease, mainly with first-degree relatives and with hyperlipidemia.

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In this paper we address the question of epigenetics by evidencing some mechanisms related to gene expression, which, we understand, can in a way be used as metaphors for movements occurring during the psychotherapeutic process. The possibility of a dialogue between epigenetics and analytical psychology begins with the hereditary and archetypal question and takes shape in the dimension of the analytical encounter. Through the Jungian attitude model, we propose a way of moving between the two sciences. This paper provides a brief review of the concept of archetype, covering recent publications. It then describes the main mechanisms of epigenetics and, finally, addresses the analytical process and presents the authors' proposal to consider the archetypal expression in the light of epigenetics.

Dans cet article nous étudions la question de l'épigénétique en montrant quelques mécanismes en lien avec l'expression d'un gène. Nous pensons que, d'une certaine manière, ces mécanismes peuvent être utilisés en tant que métaphores des mouvements qui se produisent durant le processus thérapeutique. La possibilité d'un dialogue entre l'épigénétique et la psychologie analytique commence par la question héréditaire et archétypale, et prend forme dans la dimension de la rencontre analytique. A travers le modèle de l'attitude Jungienne nous proposons une manière de circuler d'une science à l'autre. Cet article offre un bref examen du concept d'archétype, couvrant les publications récentes. Il décrit ensuite les mécanismes principaux de l'épigénétique et s'occupe finalement du processus analytique en présentant la proposition de l'auteur qui est de considérer l'expression archétypale à la lumière de l'épigénétique.

En este trabajo abordamos el tema de la epigenética al evidenciar algunos mecanismos relacionados con la expresión genética, la cual puede ser utilizada como metáforas para los movimientos que suceden durante el proceso terapéutico. La posibilidad de un diálogo entre epigenética y psicología analítica comienza con la pregunta sobre la herencia y el arquetipo y toma forma en la dimensión del encuentro analítico. A través del modelo de actitud analítica, proponemos una forma de movimiento entre dos ciencias. El presente trabajo ofrece una breve revisión del concepto de arquetipo, abarcando publicaciones recientes. Luego describe los mecanismos principales de la epigenética y finalmente, aborda el proceso analítico y presenta la propuesta de las autoras de considerar la expresión arquetípica a la luz de la epigenética.

Neste artigo, abordamos a questão da epigenética evidenciando alguns mecanismos relacionados à expressão gênica, que, entendemos, podem de certa forma ser usados como metáforas para movimentos que ocorrem durante o processo terapêutico. A possibilidade de um diálogo entre epigenética e psicologia analítica começa com a questão hereditária e arquetípica e toma forma na dimensão do encontro analítico. Através do modelo de atitude junguiana, propomos uma maneira de nos mover entre duas ciências. Este artigo fornece uma breve revisão do conceito de arquétipo, abrangendo publicações recentes. Em seguida, descreve os principais mecanismos da epigenética e, finalmente, aborda o processo analítico e apresenta a proposta do autor de considerar a expressão arquetípica à luz da epigenética.

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RESUMEN La incontinencia pigmentaria es una genodermatosis de rara presentación, que es considerada una alteración hereditaria, ligada al cromosoma X, con carácter dominante. Se presenta con mayor frecuencia en mujeres, y el compromiso principal se observa en tejidos derivados del ectodermo; es decir, puede evidenciarse como anormalidades en piel, dientes, pelos, ojos y sistema nervioso. Se presenta un caso de incontinencia pigmentaria con manifestaciones cutáneas en un recién nacido varón. El caso se confirmó a través de dos biopsias evaluadas en el servicio de anatomía patológica del Hospital Cayetano Heredia. Debido al espectro amplio de presentación clínica de incontinencia pigmentaria, se recomienda considerar a esta entidad en el diagnóstico diferencial cuando nos encontramos frente a lesiones cutáneas, predominantemente vesiculares y que siguen una distribución siguiendo las líneas de Blaschko. La incontinencia pigmentaria es una enfermedad infrecuente en nuestro país, y su diagnóstico requiere de una adecuada correlación clínico patológica, y del conocimiento de las distintas fases de la enfermedad. El diagnóstico y reconocimiento oportuno y temprano de la entidad permitirá prevenir complicaciones asociadas a nivel sistémico.

ABSTRACT Incontinentia Pigmenti is a rare genodermatosis, which is considered a hereditary alteration, linked to the X chromosome, with a dominant character. It occurs more frequently in women, and the main involvement is observed in tissues derived from the ectoderm, that is, it can be seen as abnormalities in the skin, teeth, hair, eyes and nervous system. We report a case of incontinentia pigmenti with cutaneous manifestations in a male newborn is presented. The case was confirmed through two biopsies evaluated in the pathological anatomy service of the Cayetano Heredia Hospital. Due to the broad spectrum of clinical presentation of incontinence pigmenti, it is recommended to consider this entity in the differential diagnosis when we are faced with predominantly vesicular skin lesions that follow a distribution along Blaschko lines. Incontinentia pigmenti is a rare disease in our country, and its diagnosis requires an adequate clinicopathological correlation, and knowledge of the different phases of the disease. The timely and early diagnosis and recognition of the entity will prevent associated complications at the systemic level.

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Abstract Background: A family history of arterial hypertension (AH), combined with environmental risk factors, is directly related to the development of AH. Objectives: To evaluate the frequency of AH, anthropometric indicators and level of physical activity and their association with a family history (FH) of AH in school children. Methods: Cross-sectional study with 118 students, aged between 11 and 17 years, of both sexes. Waist circumference (WC), weight, height, level of physical activity and FH of HA were collected. Body mass index z score (BMI-z) and waist-to-height ratio (WHtR) were calculated. Binary logistic regression model was used to verify the chance risk, with significance p <0.05. Results: Of the 118 parents who answered the questionnaire, 34.7% had a positive FH of AH. Girls with a positive FH had higher means of WC (p= 0,004), BMI (p=0,020), and systolic blood pressure (SBP) (p=0,006) than boys, and a higher risk of being overweight (OR=4,48; 95%CI:1,55-12,94), and having elevated WHtR (OR=5.98; 95%CI:1.66- 21.47) and SBP (OR=3,07; 95%CI:1,03-9,13) than girls without a FH, but they practice more vigorours moderate physical activity (MVPA) (p=0,039). On the other hand, no differences in these parameters were observed between boys with and without a FM of AH. Conclusion: Overweight and a FH of hypertension were associated with an increased risk for AH in girls. This was not observed among boys, perhaps due to more active lifestyle.

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Las nuevas metodologías de secuenciación masiva han permitido caracterizar e identificar variantes genéticas asociadas a diferentes patologías. En este trabajo se presenta el caso de una paciente con una mutación del gen RARS2 que codifica la enzima arginino-ARNt ligasa para la codificación de proteínas. Esta alteración genética se manifiesta en hipoplasia pontocerebelosa tipo 6, con una prevalencia de <1/1 000 0000, caracterizada por un cerebelo y un puente de menor tamaño asociados a un retraso grave en el neurodesarrollo. El análisis de caso permite un mejor conocimiento de enfermedades de origen genético, específicamente, de aquellas con patrones de herencia autosómicos recesivos de padres no consanguíneos. Su estudio sobre todo en lo relacionado con el ámbito familiar y socioeconómico, y su base genética, ayuda a una mejor calidad de vida de los pacientes y su familia.

The latest method of next-generation sequencing has allowed the characterization and identification of genetic variants associated to diverse pathologies. In this article, we present the case of female patient with a mutation of the RARS2 gene that encodes the enzyme for arginyl tRNA synthetase for coding of proteins. This genetic alteration manifests in pontocerebellar hypoplasia type 6, with a prevalence of <1/1,000,0000, characterized by a cerebellum and pons that are smaller in size and are associated with severe neurodevelopmental delay. The analysis of the case of this patient provides better knowledge of diseases of genetic origin; specifically, regarding genetic diseases of autosomal recessive patterns of inheritance from non-consanguineous parents. The impact of these studies; specially within the family, social, economic and genetic aspects helps provide a better quality of life for these patients and their family.

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The latest method of next-generation sequencing has allowed the characterization and identification of genetic variants associated to diverse pathologies. In this article, we present the case of female patient with a mutation of the RARS2 gene that encodes the enzyme for arginyl tRNA synthetase for coding of proteins. This genetic alteration manifests in pontocerebellar hypoplasia type 6, with a prevalence of<1/1,000,0000, characterized by a cerebellum and pons that are smaller in size and are associated with severe neurodevelopmental delay. The analysis of the case of this patient provides better knowledge of diseases of genetic origin; specifically, regarding genetic diseases of autosomal recessive patterns of inheritance from non-consanguineous parents. The impact of these studies; specially within the family, social, economic and genetic aspects helps provide a better quality of life for these patients and their family.

Las nuevas metodologías de secuenciación masiva han permitido caracterizar e identificar variantes genéticas asociadas a diferentes patologías. En este trabajo se presenta el caso de una paciente con una mutación del gen RARS2 que codifica la enzima arginino-ARNt ligasa para la codificación de proteínas. Esta alteración genética se manifiesta en hipoplasia pontocerebelosa tipo 6, con una prevalencia de<1/1 000 0000, caracterizada por un cerebelo y un puente de menor tamaño asociados a un retraso grave en el neurodesarrollo. El análisis de caso permite un mejor conocimiento de enfermedades de origen genético, específicamente, de aquellas con patrones de herencia autosómicos recesivos de padres no consanguíneos. Su estudio sobre todo en lo relacionado con el ámbito familiar y socioeconómico, y su base genética, ayuda a una mejor calidad de vida de los pacientes y su familia.

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ABSTRACT Objective: to analyze the understanding of mothers about sickle cell disease and/or trait of the family from a diagnosed child. Methods: this is a qualitative study, using a semi-structured interview with 23 mothers, at a sickle cell disease outpatient clinic of a public institution, from October to December 2017. Analysis was thematic. Results: all participants had sickle cell trait as well as the parents of their children. Twenty children were diagnosed with sickle cell disease by Heel Prick Test, and three, after hospitalization due to the disease. Most did not know how to report the presence of the trait or disease in relatives other than nuclear. Final considerations: diagnosis cannot be restricted to the result of neonatal screening, requiring that preventive information on sickle cell crises be reinforced. It is recommended to search for other affected relatives to learn about their genetic condition, reflecting on their reproductive decisions.

RESUMEN Objetivo: analizar el entendimiento de las madres sobre células y/o anemia falciformes de la familia del niño diagnosticado. Métodos: se trata de un estudio cualitativo, mediante entrevista semiestructurada a 23 madres, en el ambulatorio de anemia falciforme de una institución pública, de octubre a diciembre de 2017. El análisis fue temático. Resultados: todos los participantes tenían células falciformes, así como los padres de sus hijos. Veinte niños fueron diagnosticados con anemia de células falciformes mediante la prueba de punción del talón y tres, después de la hospitalización debido a la enfermedad. La mayoría no sabía cómo informar la presencia de células o anemia en miembros de la familia distintos del nuclear. Consideraciones finales: el diagnóstico no puede restringirse al resultado del cribado neonatal, requiriendo que se refuerce la información preventiva sobre las crisis drepanocíticas. Se recomienda buscar a otros familiares afectados para conocer su condición genética, reflexionando sobre sus decisiones reproductivas.

RESUMO Objetivo: analisar o entendimento de mães acerca da condição do traço e/ou doença falciforme da família a partir da criança diagnosticada. Métodos: trata-se de um estudo qualitativo, sendo utilizada entrevista semiestruturada, com 23 mães, no ambulatório de doença falciforme de uma instituição pública, no período de outubro a dezembro de 2017. A análise foi temática. Resultados: todos os participantes tinham traço falciforme, bem como os pais dos seus filhos. Vinte crianças foram diagnosticadas com doença falciforme pelo teste do pezinho, e três, após hospitalização decorrente da doença. A maioria não sabia informar a presença do traço ou doença em outros membros da família que não a nuclear. Considerações finais: o diagnóstico não pode ficar restrito ao resultado da triagem neonatal, necessitando que as informações preventivas de crises falcêmicas sejam reforçadas. Recomenda-se a busca de outros membros da família afetados para conhecimento da sua condição genética, refletindo sobre suas decisões reprodutivas.

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Resumo Fundamento A hipertensão é um importante e persistente problema de saúde pública, sendo uma das principais causas de doenças cardiovasculares e mortalidade geral. Objetivos Este estudo buscou verificar a prevalência e os fatores associados à hipertensão arterial sistêmica em trabalhadores da indústria do estado do Rio Grande do Sul, Brasil. Métodos Trata-se de um estudo transversal com dados secundários de 20.792 industriários de 18 a 59 anos de idade. A presença de hipertensão arterial foi determinada a partir da pressão arterial sistólica ≥140mmHg e/ou pressão arterial diastólica ≥90mmHg, ou estar fazendo uso de medicação anti-hipertensiva. Os fatores investigados incluíram características demográficas, socioeconômicas, comportamentais, de estado nutricional e de história familiar. Regressão de Poisson foi utilizada na análise multivariável, adotando-se um p<0,05 como nível de significância. Todas as análises foram estratificadas por sexo. Resultados A amostra incluiu 12.349 homens e 8.443 mulheres com média de idade geral de 32,8 anos (Desvio-padrão=9,8 anos). A prevalência de hipertensão foi de 10,3% (IC95%:9,8-10,7), sendo esta significativamente maior entre os homens do que entre as mulheres (10,9% vs 9,4%;p=0,001). A hipertensão mostrou-se associada à elevação da faixa etária, baixa escolaridade, viver com companheiro, ter sobrepeso ou obesidade, e ter pelo menos um parente com história de hipertensão para ambos os sexos. As mulheres com melhores condições socioeconômicas apresentaram menores prevalências de hipertensão. Conclusões Os principais fatores associados à hipertensão arterial compreenderam características sociodemográficas, nutricionais e de história familiar. Ademais, as condições socioeconômicas demonstraram uma associação com a ocorrência de hipertensão, principalmente entre as mulheres.

Abstract Background Hypertension is a serious and persistent public health problem and is one of the main causes of cardiovascular diseases and general mortality. Objectives This study aimed to verify the prevalence and factors associated with systemic arterial hypertension in workers from the state of Rio Grande do Sul, Brazil. Methods This is a cross-sectional study using the secondary data from 20,792 industry workers from 18 to 59 years of age. The presence of arterial hypertension was determined from systolic blood pressure ≥ 140mmHg and/or diastolic blood pressure ≥ 90mmHg or taking antihypertensive medication. Factors investigated included demographic, socioeconomic, behavioral, nutritional status, and family history characteristics. Poisson regression was used in multivariate analysis, adopting a significance level of p<0.05. All analyses were stratified by sex. Results The sample included 12,349 men and 8,443 women with a mean age of 32.8 years (Standard Deviation = 9.8). The prevalence of arterial hypertension was 10.3% (95% CI: 9.8-10.7), which was significantly higher in men than in women (10.9% vs 9.4%; p = 0.001). Arterial hypertension was associated with increased age, a low level of education, living with a partner, being overweight or obese, and having at least one relative with a history of hypertension for both sexes. Women with better socioeconomic conditions presented a lower prevalence of hypertension. Conclusions The main factors associated with hypertension included sociodemographic, nutritional, and family history characteristics. In addition, socioeconomic conditions showed an association with the occurrence of hypertension, especially among women.

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Resumo Fundamento: A síndrome de Brugada é um distúrbio arritmogênico hereditário caracterizado pela presença de características eletrocardiográficas específicas com ou sem sintomas. Os pacientes apresentam risco aumentado de morte súbita por fibrilação ventricular. A prevalência desse padrão eletrocardiográfico difere de acordo com a região estudada. Porém, informações epidemiológicas, incluindo a população brasileira, são escassas. Objetivo: Avaliar a prevalência do padrão eletrocardiográfico da síndrome de Brugada e o perfil epidemiológico associado a ela. Métodos: Estudo transversal que incluiu 846.533 registros ECG de 716.973 pacientes do banco de dados de eletrocardiograma (ECG) da Rede de Telemedicina de Santa Catarina por um período de quatro anos. Todos os exames foram ECG de 12 derivações convencionais (sem V1 e V2 em posições altas). Os exames identificados com o diagnóstico de "Síndrome de Brugada" (tipos 1 e 2) foram revisados por um eletrofisiologista. Foram considerados significativos valores de p<0,05. Resultados: Apresentavam padrão potencialmente consistente com ECG do tipo Brugada 83 pacientes. Destes, 33 foram confirmados com padrão de Brugada tipo 1, e 22 com tipo 2, após reavaliação. A prevalência de ECG do tipo 1 de Brugada foi de 4,6 por 100.000 pacientes. O ECG do tipo Brugada 1 foi associado ao sexo masculino (81,8% vs. 41,5%, p<0,001) e menor prevalência de obesidade (9,1% vs. 26,4%, p=0,028). Conclusões: Este estudo mostrou baixa prevalência de ECG do tipo Brugada no sul do Brasil. A presença de ECG com padrão Brugada tipo 1 esteve associada ao sexo masculino e menor prevalência de obesidade que a população geral.

Abstract Background: Brugada Syndrome is an inherited arrhythmogenic disorder characterized by the presence of specific electrocardiographic features with or without clinical symptoms. The patients present increased risk of sudden death due to ventricular fibrillation. The prevalence of this electrocardiographic pattern differs according to the studied region. However, epidemiological information including the Brazilian population is scarce. Objectives: To assess the prevalence of the electrocardiographic pattern of Brugada syndrome and the epidemiological profile associated with it. Methods: Cross-sectional study that included 846,533 ECG records of 716,973 patients from the electrocardiogram (ECG) database from the Santa Catarina Telemedicine Network over a 4-year period. All tests were 12-lead conventional ECG (without V1 and V2 in high positions). The tests revealing "Brugada Syndrome" diagnosis (Types 1 and 2) were reviewed by a cardiac electrophysiologist. The level of significance was set at p<0.05. Results: In total, 83 patients had a pattern potentially consistent with Brugada-type pattern ECG. Of these, 33 were confirmed having Brugada-type 1, and 22 with type 2 ECG after reevaluation. The prevalence of Brugada-type 1 ECG was 4.6 per 100,000 patients. Brugada-type 1 ECG was associated with the male gender (81.8% vs. 41.5%, p<0.001) and a lower prevalence of obesity diagnosis (9.1% vs. 26.4%, p=0.028). Conclusions: This study showed low prevalence of Brugada-type ECG in Southern Brazil. The presence of Brugada-type 1 ECG was associated with the male gender and lower prevalence of obesity diagnosis comparing to the general population.

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