Diabetes gestacional: necesidad del asesoramiento genético preconcepcional en Matanzas / Gestational diabetes: need for preconception genetic counseling in Matanzas

RESUMEN Introducción: muchas gestantes que se atienden en consulta de Genética prenatal provienen de familias con diabetes mellitus y desarrollan diabetes gestacional, por lo que requieren el asesoramiento genético preconcepcional sobre factores de riesgo, que en muchos casos no reciben. Objetivo: identificar los antecedentes familiares de diabetes mellitus en las gestantes que debutan con diabetes gestacional, sin haber tenido asesoramiento genético preconcepcional. Materiales y métodos: se realizó un estudio descriptivo retrospectivo durante el período 2017 a 2019 en 186 embarazadas diagnosticadas con diabetes gestacional, del municipio Matanzas. Resultados: el 39,7 % de las gestantes con diabetes gestacional pertenecían a familias con diabetes mellitus; el 27,02 % tenía un familiar de primer grado afectado; en el 59,45 % predominó la vía materna de transmisión hereditaria; un 22,58 % presentó defectos congénitos, y el 54,05 % no recibió asesoramiento genético preconcepcional. Conclusiones: no todas las embarazadas con antecedentes familiares de diabetes mellitus recibieron asesoramiento genético preconcepcional, indispensable para minimizar el riesgo de diabetes gestacional (AU).

ABSTRACT Introduction: many pregnant women attended in prenatal genetic consultation come from families with diabetes mellitus and develop gestational diabetes, so they require preconception genetic counseling on risk factors, which they do not receive in many cases. Objective: to identify family antecedents of diabetes mellitus in pregnant women who debut with gestational diabetes, without having received preconceptional genetic counseling. Materials and methods: a retrospective descriptive study was carried out during the period 2017 to 2019 in 186 pregnant women from the municipality of Matanzas, diagnosed with gestational diabetes. Results: 39.7 % of the pregnant with gestational diabetes came from families with diabetes mellitus; 27.02 % of them had an affected first-grade relative; maternal hereditary transmission predominated in 59.45 %; 22.58 % presented congenital defects, and 54.05 % did not received preconceptional genetic counseling. Conclusions: not all the pregnant women with family antecedents of diabetes mellitus received preconceptional genetic counseling, which is essential to minimize the risk of gestational diabetes (AU).

A Utilização de Telemedicina para o Aconselhamento Genético em Oncologia / The Use of Telemedicine for Genetic Counseling in Oncology / La Utilización de Telemedicina para la Asesoramiento Genético en Oncología

Introdução: O desenvolvimento da medicina com a descoberta do genoma humano revolucionou o conhecimento, o acompanhamento e o tratamento do câncer, proporcionando a utilização de novos métodos de diagnóstico e tratamento para diversos tipos de neoplasias e permitindo o aconselhamento genético. O aconselhamento genético, embora de difícil acesso, pode vir a permitir aos pacientes com suspeita de câncer hereditário a diminuição dos índices de morbidade e mortalidade por essa doença e proporcionar uma melhora na qualidade de vida dos pacientes. Objetivo: Demonstrar o estado da arte do aconselhamento genético em oncologia, utilizando a ferramenta digital da telemedicina. Método: Foi realizada uma revisão integrativa de literatura, entre dezembro de 2018 e março de 2019, a partir das bases de dados PubMed, SciELO e BIREME, por meio das palavras cadastradas no MeSH e nos Descritores em Ciências da Saúde (DeCS), respectivamente, em inglês, Genetic Counseling AND Telemedicine OR eHealth AND Oncology. Resultados: Foram encontrados 16 artigos; destes, oito foram excluídos. Restaram sete artigos que atendiam aos critérios de inclusão, demonstrando dados sobre a satisfação do paciente para com os serviços de aconselhamento genético voltados para o câncer, assim como suas vantagens e desvantagens. Conclusão: Embora ainda haja poucos estudos relatando experiências da prática do aconselhamento genético em oncologia, essa prática tem se demonstrado eficiente, de baixo custo e de boa aceitação do paciente e do profissional, suprindo necessidades principalmente nos locais de difícil acesso.

Introduction: The development of medicine and the discovery of the human genome revolutionized the knowledge, monitoring and treatment of cancer that favored the utilization of new methods of diagnosis, treatment for several types of neoplasms and genetic counseling. Although difficult to access, genetic counseling may allow the patients with suspected hereditary cancer, to reduce the rates of morbidity and mortality by this disease and ensure improvement in their quality of life. Objective: Demonstrate the state of the art of genetic counseling in oncology using the digital telemedicine tool. Method: An integrative literature review conducted between December 2018 and March 2019, using the PubMed, SciELO and BIREME databases, utilizing the words registered in the MeSH and Health Sciences Descriptors (DeCS), respectively, in English, Genetic Counseling AND Telemedicine OR eHealth AND Oncology. Results: 16 articles were found and of these, eight were excluded. Thus, seven articles that met the inclusion criteria showing data about patient satisfaction with cancer-oriented counseling services, its advantages and disadvantages remained. Conclusion: Although there are few studies addressing the experience of genetic counseling in oncology, this low cost practice has been shown to be efficient and well accepted by the patient and the professional, providing proper responses mainly in places of difficult access.

Introducción: El desarrollo de la medicina con el descubrimiento del genoma humano revolucionó el conocimiento, seguimiento y terapia del cáncer, permitiendo la utilización de nuevas técnicas de diagnóstico y terapias para diferentes tipos de neoplasias, además del asesoramiento genético. El asesoramiento genético, aunque de acceso difícil, puede permitir a los pacientes con sospechas de cáncer hereditario la disminución de los índices de morbilidad y mortalidad para esa enfermedad y proporcionar una mejora en su calidad de vida. Objetivo: Demostrar el estado del arte del asesoramiento genético en oncología utilizando la herramienta digital de la telemedicina. Método: Se realizó una revisión integrativa de literatura entre diciembre de 2018 y marzo de 2019, a partir de las bases de datos PubMed, SciELO y BIREME, por medio de las palabras catastradas en el MeSH y en el Descriptores de Ciencia de la Salud (DeCS), respectivamente, en inglés Genetic Counseling AND Telemedicine OR eHealth AND Oncology. Resultados: Se han encontrado 16 artículos; de estos, 8 fueron excluidos. Así, quedaron siete artículos que atendían a los criterios de inclusión demostrando datos sobre la satisfacción del paciente hacia con los servicios de asesoramiento genético dirigidos al cáncer, así como sus ventajas y desventajas. Conclusión: Aunque todavía hay pocos estudios relatando experiencias de la práctica del asesoramiento genético en oncología, esta práctica se ha demostrado eficiente, de bajo costo y de buena aceptación del paciente y del profesional, supliendo necesidades principalmente en los lugares de difícil acceso.

Seudohipoparatiroidismo 1b / Pseudohypoparathyroidism 1b

RESUMEN El seudohipoparatiroidismo 1b se caracteriza por resistencia aislada a la parathormona, en ausencia de las manifestaciones típicas de la osteodisfrofia hereditaria de Albright; debido a alteraciones epigenéticas del locus GNAS. Puede presentarse de forma esporádica, o heredado de manera autosómico dominante por vía materna. Se presenta paciente masculino de 31 años, con antecedentes de tumores óseos y calcificaciones cerebrales diagnosticados a los 14 años; que se consulta por presentar mareo intenso, rigidez del cuello y la boca, dificultad para hablar y tragar, desorientación y trastornos de percepción; con fenotipo y somatometría normales, y signos de tetania latente (Chvostek y Trouseau positivos). Los estudios realizados mostraron: hipocalcemia, hiperfosfatemia, aumento de niveles de parathormona y múltiples calcificaciones en cerebro y cerebelo. Con tales hallazgos se emite el diagnóstico de seudohipoparatiroidismo 1b, el cual se confirma mediante pruebas moleculares con alteración en el patrón de metilación en el locus GNAS. No presentó alteraciones en el estudio de secuenciación de los 13 exones codificantes del GNAS. Se concluyó como un caso esporádico ante la ausencia de historia familiar de hipocalcemia, combinado con amplia pérdida de metilación del gen GNAS y la no evidencia de deleciones. Se presenta el primer reporte de esta enfermedad en Cuba con estudio molecular(AU)

ABSTRACT Pseudohypoparathyroidism 1b is characterized by isolated resistance to parathormone, in the absence of the typical manifestations of hereditary Albright osteodysphrophy; due to epigenetic alterations of the GNAS locus. It can occur sporadically, or inherited in an autosomal dominant way through the mother. We report the case of a 31-year-old male patient, with history of bone tumors and cerebral calcifications diagnosed at age 14. She came to consultation due to severe dizziness, stiff neck and mouth, difficulty speaking and swallowing, disorientation and perception disorders; he showed normal phenotype and somatometry, and signs of latent tetany (positive Chvostek and Trouseau). Studies have shown hypocalcaemia, hyperphosphatemia, increased levels of parathormone and multiple calcifications in the brain and cerebellum. These findings, pseudohypoparathyroidism 1b is diagnosed confirmed by molecular tests showing alteration in the methylation pattern in the GNAS locus. There were no alterations in the sequencing study of the 13 exons coding for GNAS. It was concluded as a sporadic case in the absence of a family history of hypocalcemia, combined with extensive loss of GNAS gene methylation and no evidence of deletions. This is the first report this disease with molecular study in Cuba(AU)

Reproductive alternatives for patients with dystrophic epidermolysis bullosa / Opções reprodutivas para pacientes com epidermólise bolhosa distrófica

ABSTRACT 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.

RESUMO O termo "epidermólise bolhosa" descreve um grupo de afecções cutâneas causadas por mutações em genes que codificam proteínas relacionadas à aderência dermoepidérmica. Nos Estados Unidos, estima-se a ocorrência de 50 casos de epidermólise bolhosa por 1 milhão de nascidos vivos, sendo 92% deles da forma simples, 5% da forma distrófica, 1% da forma juncional e 2% não classificados. A epidermólise bolhosa do tipo distrófica foi associada a padrões autossômicos, dominante e recessivo. A epidermólise bolhosa causa sérios impactos psicológicos, econômicos e sociais, e não há tratamento curativo atualmente − apenas controle dos sintomas. A seleção embrionária é disponível para portadores de epidermólise bolhosa, a fim de evitar a perpetuação da condição em seus descendentes.

Normas éticas para la realización de pruebas predictivas en los servicios de genética médica de Cuba / Ethical norms for the execution of predictive tests in the medical genetics´ services in Cuba

Introducción: Las nuevas tecnologías disponibles en el campo de la genética humana y médica pueden ser utilizadas, cada vez más, con fines médicos preventivos. Existe también el riesgo de su uso indebido que favorezca la discriminación y la eutanasia selectiva y minimice el papel de los condicionantes sociales en la salud de las poblaciones. Objetivo: Establecer normas éticas para garantizar que las pruebas presintomáticas en Cuba se realicen conforme a los principios éticos de respeto a la autonomía, justicia, beneficencia y no maleficencia. Métodos: Estas normas se elaboraron a partir de una propuesta discutida y consensuada en talleres nacionales con la participación de genetistas clínicos de todo el país y aprobadas por el Comité de Ética del Centro Nacional de Genética Médica y el Ministerio de Salud Pública. Resultados: Las normas aprobadas consideraron aspectos esenciales como el conocimiento sobre el alcance de la información que la prueba revelará y sus implicaciones a nivel personal y familiar, el consentimiento informado para su realización, las condiciones en que se realiza y la seguridad de sus resultados, las obligaciones médicas antes, durante y después de la realización de la prueba y lo concerniente a la privacidad y confidencialidad de la información. Conclusiones: La generalización y cumplimiento de las normas aprobadas asegura la protección a individuos y familias vulnerables, contribuye a mejorar su atención médica y a aminorar el impacto que sobre su salud, su reproducción y su vida en general, tienen las severas enfermedades para las que están en riesgo o padecen(AU)

Introduction: New technologies available in the field of human and medical genetics can increasingly be used for preventive medical purposes. There is also the risk of misuse that favors discrimination and selective euthanasia, and that minimizes the role of social determinants in the health of the populations. Objectives: To establish ethical norms to ensure that presymptomatic tests in Cuba are carried out in accordance with the principles of respect for autonomy, justice, beneficence and non-malice. Methods: These norms were elaborated from a proposal discussed and agreed upon in national workshops with the participation of clinical geneticists from all over the country and approved by the Ethics Committee of the National Center of Medical Genetics and the Ministry of Public Health. Results: The approved norms considered essential aspects such as: the knowledge about the scope of information that the test will reveal and its implications on a personal and family level, informed consent for its implementation, the conditions under which it is performed, and the safety of its results; medical obligations before, during and after the performance of the test; and all concerning to the privacy and confidentiality of the information. Conclusions: The generalization and compliance of these ethical norms ensure the protection of vulnerable individuals and families, contributes to improving their medical care and to reducing the impact on their health, their reproduction and life in general terms of the severe diseases they are at risk or suffering from(AU)

Secuencia de bandas amnióticas, una actualización / An update on amniotic bands sequence

La secuencia de bandas amnióticas es un desorden congénito caracterizado por anomalías craneofaciales, de la pared corporal y de las extremidades que pueden asociarse con bandas fibrosas fetoplacentarias. Su prevalencia ha sido reportada entre 0,19 y 8,1 por 10 000 nacimientos. Diversas teorías han tratado de explicar su etiología, sin embargo, ninguna, en forma individual, sustenta todas y cada una de las anomalías observadas, por lo que se ha considerado una entidad multifactorial. La identificación de anomalías (pre-yposnatalmente) sugestivas de secuencia de bandas amnióticas permite el abordaje diagnóstico para efectuar intervenciones terapéuticas oportunas que posibiliten la liberación de bandas amnióticas mediante fetoscopia con recuperación de la perfusión de la porción distal de la extremidad involucrada o bien la reparación quirúrgica posnatal y para otorgar asesoramiento genético. Este artículo ofrece una actualización sobre aspectos epidemiológicos, teorías etiológicas, factores de riesgo, características clínicas, diagnóstico (que incluye el diagnóstico prenatal), asesoramiento genético, abordaje terapéutico y pronóstico de esta entidad.

Amniotic bands sequence is a congenital disorder characterized by craniofacial, body wall, and limb anomalies that may be associated with fetal-placental fibrous bands. Its prevalence has been reported to range from 0.19 to 8.1 per 10 000births. Different theories have attempted to explain the etiology of amniotic band sequence; however, none has individually been able to support each and every defect observed, so it has been considered to be a multifactorial condition. The (pre- and post-natal) identification of anomalies suggestive of amniotic band sequence is useful for the diagnostic approach and implementation of timely therapeutic interventions favoring the release of the amniotic bands using fetoscopy with recovery of the involved distal limb perfusion, or else the possibility of performing a post-natal surgical repair. It is also helpful to provide genetic counseling. This article offers an update on the epidemiological aspects, etiological theories, risk factors, clinical characteristics, diagnosis (including antenatal diagnosis), genetic counseling, therapeutic approach, and prognosis of amniotic bands sequence.

Genetic Counseling Outcome Scale (GCOS-24): adaptação cultural e validação para brasileiros em processo de aconselhamento genético / Genetic Counseling Outcome Scale (GCOS-24): cultural adaptation and validation to Brazilians in process of Genetic Counseling

Profissionais de saúde, atuantes em serviços que oferecem aconselhamento genético (AG), carecem de instrumentos objetivos para avaliar os desfechos do AG e para "dar voz" aos usuários desses serviços. O desconhecimento desses desfechos pode impactar diretamente na efetividade e nos benefícios do aconselhamento, na qualidade de vida, na promoção da saúde e no empoderamento dos aconselhados. Tais instrumentos são escassos na maioria dos países e inexistentes no Brasil. Nesse contexto, o presente estudo teve como objetivo adaptar culturalmente e validar a Genetic Counseling Outcome Scale/GCOS-24, originalmente elaborada no idioma inglês britânico. Após aprovação pelo Comitê de Ética em Pesquisa das instituições participantes, conduzimos uma investigação metodológica, que incluiu 204 usuários (pacientes, acometidos ou em risco para doenças genéticas, ou um de seus familiares/cuidadores) do Serviço de Genética Médica de um hospital universitário do interior paulista, durante o período de outubro de 2014 a dezembro de 2015. O processo de adaptação e validação da GCOS-24 compreendeu as fases de tradução e retrotradução, comitê de especialistas, validação semântica, estudo piloto e estudo de campo, por meio de análise estatística apropriada. A validação semântica demonstrou que a GCOS-24 é composta por itens considerados relevantes para a condição de saúde dos participantes do estudo, os quais foram facilmente compreendidos pelos mesmos. A versão adaptada apresentou confiabilidade satisfatória (?Cronbach=0,71) e estabilidade moderada (ICC=0,52), mensuradas, respectivamente, pelo Coeficiente Alfa de Cronbach e Coeficiente de Correlação Intraclasse. O processo de adaptação e validação da GCOS-24 para brasileiros foi finalizado. O produto final deste trabalho, a EDAG-24 (Escala de Desfechos do Aconselhamento Genético/EDAG-24), foi considerada válida e fidedigna à sua versão original, com potencial para mensurar os desfechos do aconselhamento genético, realizado em serviços de genética clínica

Health professionals working in services that offer genetic counseling (GC) lack objective instruments to measure the GC outcomes and to give voice to the users of these services. The unawareness of these outcomes can directly impact the effectiveness and benefits of counseling, life quality, health promotion and the empowerment of the patients. Such instruments are scarce in most countries and nonexistent in Brazil. In this context, this paper aimed to culturally adapt and validate the Genetic Counseling Outcome Scale /GCOS-24, originally made in British English. After the approval of the Research Ethics Committee of the participating institutions, we conducted a methodological investigation, which included 204 users (patients, affected or at risk for genetic diseases, or one of their relatives/caregivers) from the Medical Genetics Service of a university hospital in the countryside of the state of Sao Paulo, during the period from October 2014 to December 2015. The process of adaptation and validation of the GCOS-24 comprehended the phases of translation and back-translation, committee of experts, semantic validation, pilot test and field study, through appropriate statistical analysis. The semantic validation revealed that GCOS-24 consists of items that were considered relevant to the health condition of the study participants, which were easily understood by them. The adapted version presented satisfactory reliability (?Cronbach=0,71) and moderate stability (ICC=0,52), measured, respectively, by the Cronbach's Alpha Coefficient and Intraclass Correlation Coefficient. The adaptation and validation process of the GCOS-24 to Brazilians was finalized. The final product of this paper, the EDAG-24 (Escala de Desfechos do Aconselhamento Genético/EDAG-24), was considered valid and reliable to its original version, with potential to measure the genetic counseling outcomes conducted in Clinical Genetics Services

Enfermedad granulomatosa crónica: tres casos clínicos con diferentes formas de presentación / Chronic granulomatous disease: three cases with different presentations

Introducción: La enfermedad granulomatosa crónica (EGC) es una forma infrecuente de inmunodeficiencia primaria que se caracteriza por una sensibilidad anormal a infecciones bacterianas y fúngicas, debida a un déficit en el complejo nicotinamida adenina dinucleótida fosfato oxidasa (NADPH) en los fagocitos. Objetivo: Describir tres casos de EGC con énfasis en su forma de presentación y realizar una revisión del tema. Casos Clínicos: Se presentan tres casos clínicos, dos de ellos con relación de parentesco (primos en primer grado). Se llegó a diagnóstico molecular en uno de los casos. Se destacan las manifestaciones clínicas: infecciones recurrentes, abscesos, adenitis y granulomas, y complicaciones, con la finalidad de facilitar la sospecha diagnóstica de EGC, debido a la importancia del diagnóstico temprano y el consejo genético. Conclusiones: La EGC es un trastorno inmunológico primario congénito infrecuente, con herencia ligada a X en su mayoría, pero también con formas autosómicas recesivas, con una forma de presentación característica y cuyo diagnóstico debe ser oportuno para evitar complicaciones, realizar profilaxis y tratamiento agresivo de las infecciones y consejo genético.

Introduction: Chronic granulomatous disease (CGD) is a rare form of primary immunodeficiency disease, characterized by an abnormal susceptibility to bacterial and fungal infections, and it is caused by a deficit in the phagocyte nicotinamide adenine dinucleotide phosphate oxidase complex (NADPH), resulting in the inability to generate reactive oxygen species that destroy micro-organisms. The diagnosis is based on clinical characteristics and analysis of phagocytes, and later confirmed by molecular studies. Its management should consider antimicrobial prophylaxis, a search for infections and aggressive management of these. Objective: To describe three cases of CGD emphasizing their forms of presentation and to conduct a review of the condition. Case reports: Three case reports, two of them first cousins, are presented. Molecular diagnosis was reached in one of the cases. Recurrent infections, abscesses, adenitis, granulomas and complications are identified to facilitate the suspected diagnosis of CGD, bearing in mind the importance of early diagnosis and genetic counseling. Conclusions: EGC is a rare congenital primary immunodeficiency disorder, mostly with X-linked inheritance, autosomal recessive form, and a specific presentation form. Its diagnosis should be timely to avoid complications. Prophylaxis and aggressive treatment of infections should be performed, as well as genetic counseling.

Genetic counseling in carriers of reciprocal translocations involving two autosomes.

One of the main genetic causes involve in the pathogenesis of recurrent abortion is parental chromosomal abnormalities. The central concept in genetic counseling with such families is to estimate the probability of recurrence of unfavorable pregnancy outcomes. The main questions that consultants usually ask are: Why did this happen? What is the risk to be done again? Our cases were two families with repeated miscarriage. The pedigrees were drawn, the chromosomes of couples were studied, and estimation for recurrent risk was done. We tried to answer those two main questions and clear the results for them. Parental chromosome abnormalities were founded after karyotyping with GTG technique at 450 band resolution, revealing 46 chromosomes with balanced translocation of autosomes in one of the partner in both families. Recurrent risk was estimated as "high" for their future pregnancies in each family. Couples in which one partner is the carrier of such balanced translocation have increased risks of infertility, recurrent abortion, and delivery of chromosomally abnormal offspring. Genetic counseling of such couples, therefore, presents a unique challenge and should be considered in dealing with such families.

The cytogenetic examination as a tool for the diagnosis of chromosomal disorders / Examinación citogenética como herramienta para el diagnóstico de los desórdenes cromosómicos

Clinically significant chromosomal abnormalities occur in about 1 percent of children born alive. The objective of this work was to offer the patients and the families in the community for the service of the Integrated Clinic of Uniara Health (Araraquara and region), the examination of cariotype (cytogenetic study) for confirmation or exclusion of the diagnostic suspicion of chromosomal abnormalities as well as information (genetic counseling) for the prevention of occurrence and/or recurrence of these anomalies. In the period of one year and four months these were carried out in the Integrated Clinic of Uniara Health and directed for the Laboratory of Cytogenetic Human of the same institution in 66 cytogenetic studies. In 44 patients (66.6 percent) the results were normal. In 22 (33.3 percent) examinations, alterations were found, meaning that the respective clinical pictures are decurrent of chromosomic alterations. The first cause within alterations noted was Down syndrome with a total of 15 examinations or 68.1 percent, the second cause of chromosomal anomaly was the Turner syndrome where the most important factor is 45, X, where 2 karyotypes of this type or 9.1 percent were found, syndromes as (Eduards syndrome, Patau syndrome, 3p- syndrome, 4p- syndrome and 6p-syndrome) diagnosed in our laboratory appeared less frequently corresponding to 22.7 percent of the studied anomalies. The work carried out constitutes a necessary diagnosis of the main chromosomal abnormalities through a low cost technique; it can be carried out easily and is reliable, making the cytogenetic examination available to the community and contributing significantly to the quality of life of patients.

Las anormalidades cromosómicas, clínicamente significativas, se presentan en aproximadamente 1 por ciento de los niños nacidos vivos. Este trabajo tiene el objetivo de ofrecer a los pacientes y /o a sus familiares el servicio de la Clínica Integrada de la Salud de Uniara (Araraquara y Región), el examen de cariotipo (estudio citogenético) para la confirmación o la exclusión de sospecha de anomalías cromosomales diagnosticadas, así como otorgar información (consejo genético) para la prevención de las posibles anomalías y /o la repetición de éstas. En un año y cuatro meses fueron realizados 66 estudios de citogenética en la Clínica Integrada de Uniara, dirigida por el Laboratorio de Citogenética Humana de la misma institución. En 44 pacientes (66,6 por ciento) los resultados fueron normales. En 22 (33,3 por ciento) de los exámenes, se encontraron alteraciones, compatibles con alteraciones cromosómicas. La primera causa de anomalías cromosómica fue el síndrome de Down, totalizando 15 exámenes (68,1 por ciento), la segunda causa fue el síndrome de Turner, con dos cariotipos (9,1 por ciento) en la forma más importante 45, X. Por otra parte, se encontró que los síndromes de Eduards, de Patau, 3p-síndrome de Down, síndrome 4p-6p, diagnosticados en nuestro laboratorio, presentaban baja frecuencia de aparición, representando el 22,7 por ciento de las anomalías estudiadas. Este trabajo permitió realizar un diagnóstico preciso de las anomalías cromosomales, principalmente a través de una técnica de bajo costo, fácil ejecución y buena confiabilidad, técnicas que están disponibles para el examen citogenético para la comunidad y así contribuir de manera significativa en la calidad de vida de los pacientes.

Ataxia telangiectasia: Family management.

Ataxia telangiectasia (AT) is a rare autosomal recessive disease resulting in progressive degeneration of multiple systems in the body. Both A-T homozygote and heterozygote are at increased risk of developing malignancy. We report a family in which three generations were affected by this disorder. Our index case is a 12-year-old female child, born of second degree consanguineous marriage diagnosed to have ataxia telangiectasia at the age of four years, now presented with fever and neck swelling of one month duration. Family history suggestive of ataxia telangiectasia in maternal uncle and younger sibling was present. History of premature coronary artery disease and death in paternal grandfather was present. On evaluation, child was diagnosed to have Alk negative anaplastic large T cell lymphoma. Management included genetic counseling, examination of all the family members, identification of A-T homozygote and providing appropriate care, regular surveillance of the heterozygote for malignancy.

Defectos del tubo neural en productos de abortos espontáneos / Neural tube deffects in product of spontaneous abortions

Describir los defectos del tubo neural en productos menores de 20 semanas de gestación y destacar las implicaciones y utilidad de su diagnóstico en el asesoramiento a la pareja. Se realizó un estudio prospectivol, transeccional, descriptivo en una muestra no probabilística, constituida por productos de abortos espontáneos menores de 20 semanas de gestación. Se examinaron sistemáticamente las características morfológicas externas y los hallazgos anormales se registraron mediante descripción y fotografía. Laboratorio de Investigación “Dr. Carlos R. Davauchelle”, Cátedra de Histología y Embriología de la Universidad del Zulia, Maracaibo. De los 55 productos estudiados, 27 (49,09 por ciento) corresponden al sexo masculino, 21 (38,18 por ciento) al sexo femenino, y 7 (12,43 por ciento) cuyo sexo no pudo ser determinado de acuerdo a las características morfológicas de los genitales externos. Sólo 5 (9,09 por ciento) presentaron defectos del tubo neural y las anomalías encontradas fueron: anencefalia, craneorraquisquisis, espina bífida lumbosacra, iniencefalia y encefalocele. La identificación de los defectos del tubo neural en la muestra estudiada sirve como punto de partida para ofrecer asesoramiento médico a los padres acerca del riesgo de recurrencia, la utilización de medidas de prevención, el plan de acción a seguir ante futuros embarazos y la posibilidad de ofrecer el diagnóstico prenatal.

Mental retardation among children born with birth defects

Mental retardation [MB] is a major health problem affecting 3% of the population. It results from the interaction of many genes and non-genetic factors. However, in up to 60% of patients the aetiology remains unclear. The aim of the study is to examine the association of birth defects and MB, taking into consideration the type of birth detect, level of MB, co-occurrence of MB with other developmental disabilities, genetic and biological risk factors. A case control study was conducted on 300 children with MR from December 2006 to December 2007. They were referred to the Human Genetics Department, Medical Research Institute, University of Alexandria, for diagnosis and genetic counseling. For comparison, 506 normal control groups were randomly selected. The cases were 156 males [54%] and 135 females [46%], the difference was not statistically significant. Out of 300 studied cases, 72 children [24%] had various chromosomal aberrations, while the remaining 228 [76%] had single gene disorder. From these groups 66 children had another coexisting DDS [25 with CP, 15 had VL, 10 with autism; 10 HL and 6 had epilepsy]. Mild MB [MMR] was more prevalent among all the studied cases than severe MR [SMR], there was significant association between 8MB and birth defects [OR = 1.65, Cl: 1.05-3.27]. Birth defects occurred in 180 children [40 children with Down syndrome, 1 with sex chromosomal defect, 3 with other chromosomal anomalies, and the remaining 136 with non-chromosomal abnormalities]. There was significant association between children with Down syndrome and birth defects [OR=10; Cl: 1-242.25]. Birth defects were present in 41 children with MR and other coexisting DDs. Also, it was found that all children with different birth defects had significant association with MB, [OR = 87.21 Cl: 40.38-196.31]. These MR risks tended to be the largest among infants born with heart and central nervous system defects. There was significant association between low birth weight [OR = 3.57; Cl: 1.91-6.65], preterm [OR = 9.63; Cl: 2.21-47.84], and parental consanguinity [OR = 4.19; Cl: 2.9-6.06] and the occurrence of MR. This study high-lights the role of prenatal factors in the origin of many DDS especially MR and suggests that a sizable proportion of DDS may be caused by insults occurring early in embryologic development

Propuesta de una metodología de asesoramiento genético prenatal para la prevención de defectos congénitos inducidos por medicamentos / Proposal of a prenatal genetic counselling methodology to prevent congenital defects induced by drugs

Se conoce que los medicamentos constituyen la tecnología médica más utilizada en el mundo contemporáneo. Se han identificado muchos con efectos teratogénicos. Son 2 las situaciones a las que se enfrenta el médico de la familia u otro personal facultativo que asiste a embarazadas: la de aquellas con una enfermedad crónica a quienes debe prescribirse un medicamento con potencialidades teratogénicas conocidas o no y la de otras que los consumieron o los requieren para aliviar síntomas o trastornos agudos asociados o provocados por el embarazo. Dada la relativa frecuencia con que pueden presentarse estas situaciones se relacionaron las categorías de riesgo teratogénico de algunos medicamentos y se propuso además una estrategia de asesoramiento genético prenatal para atender gestantes que requieran o hayan ingerido fármacos con determinado riesgo teratogénico o no, lo que resulta una útil herramienta en manos de los médicos de familia para prevenir defectos congénitos inducidos por medicamentos

Displasia tantofórica / Thanatophoric dysplasia

Objetico: chamar atenção para a displasia tanatofórica, uma causa rara de insuficiência respiratória e a mais frequente condrodisplasia letal no recém-nascido. Descrição: o recém-nascido apresentava sinais de distúrbio respiratório. O fêmur em forma de telefone, um achado radiológico clássico, estava presente. /Objective: to focus attention on thanatophoric dwarfism, a rare cause of respiratory insufficiency and chondrodysplasia. The femur resembling a 'telephone receiver', a classical radiological finfing, was present...

X-linked Severe Combined Immunodeficiency Syndrome: The First Korean Case with gamma c Chain Gene Mutation and Subsequent Genetic Counseling

X-linked severe combined immunodeficiency (X-SCID) is a rare, life-threatening immune disorder, caused by mutations in the gamma c chain gene, which encodes an essential component of the cytokine receptors for interleukin-2 (IL-2), IL-4, IL-7, IL-9, IL-15, and IL-21. A 13-month-old boy with recurrent infections who had reduced serum immunoglobulin levels and decreased numbers of CD3, CD16/56 cells was evaluated for gamma c chain gene mutation and protein expression. The patient had a C-to-T point mutation at nucleotide position 690, one of the hot spots, resulting in a single amino acid substitution of cysteine for arginine (R226C), as determined by direct sequencing and PCR-RFLP. The patient's mother was a heterozygous carrier. Percutaneous umbilical cord blood sampling was performed at the 6-month of gestation in a subsequent pregnancy. As the immunophenotype of the fetus showed an identical pattern, the pregnancy was terminated and genetic analysis of the abortus confirmed recurrence. This is the first report of the molecular diagnosis of X-SCID in Korea. Genetic analysis of the gamma c chain gene is useful for definite diagnosis and genetic counseling for X-SCID.

Fundamentos y actualidades del asesoramiento genético / Foundation and actuality about genetic counseling

Los avances en el conocimiento de los mecanismos de producción de las enfermedades hereditarias, y la aplicación de los principios de genética en diferentes disciplinas no tratadas de manera común por los genetistas, han ampliado la utilidad del asesoramiento genético. Por estas razones, en la actualidad es mayor el número de familias que buscan asesoría genética por defectos al nacimiento, enfermedades genéticas, así como por causas tan diversas como cáncer, trastornos psiquiátricos, neurodegenerativos, cardiacos, abortos, óbitos, embarazo en edad avanzada, exposición a teratógenos y otros factores de riesgo. El asesoramiento genético es un proceso de comunicación acerca de los problemas humanos asociados con la ocurrencia, o riesgo de ocurrencia y repetición, de un desorden genético familiar. Debe ser proporcionado con imparcialidad, para alcanzar la finalidad de ayudar al individuo, o la familia, para afrontar su situación relacionada con la enfermedad, por medio de información clara para comprender los aspectos médicos, modo de herencia y riesgos de repetición que les permita tomar decisiones razonadas acerca del motivo de su consulta. En esta revisión se abordan los fundamentos en los que se basa el asesoramiento genético, las características de los diferentes modos de herencia tradicionales (herencia mendeliana, cromosómica y multifactorial), novedosos (inestabilidad del genoma, herencia mitocondrial, cambios epigenéticos), y teratogénicos, los principios éticos elementales relacionados con este tema, y se hacen consideraciones acerca de la necesidad de formación de profesionales en salud entrenados para proporcionar consejo genético bajo la supervisión de genetistas clínicos.