Resumen En Perú, más de la mitad de las mujeres recluidas lo está por algún delito vinculado al tráfico ilícito de drogas (TID). En este artículo analizamos, desde una aproximación feminista y un análisis narrativo, 57 entrevistas a mujeres recluidas en los seis establecimientos penitenciarios con mayor población recluida por TID en Perú. Los resultados muestran cinco trayectorias hacia el TID: 1) Involucramiento por urgencia económica, 2) Involucramiento por engaño, 3) Involucramiento porque el TID se valida como trabajo, 4) Involucramiento vinculado a su relación de pareja, y 5) Involucramiento por eventos inesperados y dolorosos. En la investigación feminista, las trayectorias permiten narrar realidades que trascienden la individualidad, mostrando el impacto de las circunstancias macrosociales y las fallas estructurales en las vidas cotidianas. A partir del análisis, observamos que tanto la violencia estructural -vinculada a la precariedad económica y a las escasas oportunidades de desarrollo-, como la construcción de una subjetividad femenina tradicional -que se expresa en el “ser de otros” y el “ser para otros”-, las colocan en situaciones de vulnerabilidad para su involucramiento en este delito, lo que convive con diferentes niveles de autonomía y agencia por parte de ellas.

Abstract In Peru, more than half of the women in prison are incarcerated for a crime related to illicit drug trafficking (IDT). In this article we analyze, from a feminist approach and narrative analysis, 57 interviews with women imprisoned in the six prisons with the largest population imprisoned for IDT in Peru. The results show five trajectories towards IDT: 1) Involvement due to economic urgency, 2) Involvement due to deception, 3) Involvement because IDT is validated as work, 4) Involvement linked to their partner relationship, and 5) Involvement due to unexpected and painful events. In feminist research, trajectories allow us to narrate realities that transcend individuality, showing the impact of macro-social circumstances and structural failures in everyday lives. From the analysis, we observe that both structural violence-linked to economic precariousness and scarce development opportunities-and the construction of a traditional feminine subjectivity-expressed in “being of others” and “being for others”-place them in situations of vulnerability for their involvement in this crime, which coexists with different levels of autonomy and agency on their part.

Resumo No Peru, mais da metade das mulheres encarceradas estão presas por um crime relacionado ao tráfico ilícito de drogas (TID). Neste artigo, analisamos a partir de uma abordagem feminista e de uma análise narrativa, 57 entrevistas com mulheres nas seis prisões com a maior população encarcerada por TID no Peru. Os resultados mostram cinco trajetórias rumo ao TID: 1) Envolvimento devido à urgência econômica, 2) Envolvimento devido a engano, 3) Envolvimento porque o TID é validado como um trabalho, 4) Envolvimento ligado ao seu relacionamento com seu parceiro e, 5) Envolvimento devido a eventos inesperados e dolorosos. Nas pesquisas feministas, as trajetórias nos permitem narrar realidades que transcendem a individualidade, mostrando o impacto de circunstâncias macrossociais e falhas estruturais na vida cotidiana. Da análise, é observado que tanto a violência estrutural-ligada à precariedade econômica e às limitadas oportunidades de desenvolvimento-como a construção de uma subjetividade feminina tradicional-expressada em “ser dos outros” e “ser para os outros”-as coloca em situações de vulnerabilidade por seu envolvimento neste crime, que coexiste com diferentes níveis de autonomia e agência de sua parte.

Abstract: Access to land ownership to produce in Argentina is a historical problem that was approached from different perspectives (the elaboration of regulations, public policies and bibliographic production) and that continues currently hindering the activity of the actors of family farming. The purpose of this work is to know the public policies of access to land ownership in the district of Puan (Buenos Aires, Argentina) used by family farming. The methodology is based on the qualitative method and uses semi-structured interviews. In addition, uses statistical data analysis from agricultural census. The results show the substantial difference between current policies and those of other historical periods. As main conclusions, it is identified that the impact of land policies on effective access to land ownership is very clear, the same as is the absence of such policies. Without specific public policies for family farming, they cannot access the property of the land to produce. In addition, is the market is the one who has a central role in the processes of access to land ownership, displacing other actors and modifying the territories.

Resumen: El acceso a la propiedad de la tierra para producir en Argentina es una problemática histórica que se abordó con diferentes perspectivas (desde la elaboración de normativas, políticas públicas y la producción bibliográfica) y que continua en la actualidad complejizando la actividad de los actores de la agricultura familiar. Este trabajo tiene como objetivo conocer las políticas públicas de acceso a la propiedad de la tierra en el partido de Puan (Buenos Aires, Argentina) utilizadas por la agricultura familiar. La metodología propuesta se basa en el método cualitativo y utiliza principalmente la técnica de entrevistas semi-estructuradas. Además, incorpora el análisis de datos estadísticos de censos agropecuarios. Los resultados muestran la diferencia sustancial existente entre las políticas de la actualidad y las de otros períodos históricos. Como conclusiones principales se identifica que el impacto de las políticas de tierra en el efectivo acceso a la propiedad de la tierra es muy claro, como igualmente lo es la ausencia de tales políticas. Además, que es el mercado quien tiene un rol central en los procesos de acceso a la propiedad de la tierra, desplazando a otros actores y modificando los territorios.

Abstract: The Law of Fair Access to Habitat (2012) of the province of Buenos Aires assumes the complexity of the urban-housing problem from a comprehensive perspective establishing the democratic management of the city as one of its guiding principles. For this end, the Provincial Council of Housing and Habitat was created within the scope of the enforcement authority to act as a multi-stakeholder body for consultation and advice on policies and programs developed within the framework of the Law. Recovering a view of the "State from within" (Bohoslavsky and Soprano; 2010), we propose to analyze how the institutional agenda of the Provincial Council of Habitat and Housing is built from its creation (2015) until 2020. We ask ourselves what issues are discussed and which are defined as problems and, eventually, they are oriented towards the formulation of alternative solutions (Tamayo Saéz; 1997), as part of the implementation of the Law. We concluded that this agenda was mostly subject to the participation and representativeness of the different stakeholders, who set the direction of the debates and issues discussed, which, broadly speaking, revolved around the formation of the PhaHC, the dissemination, training and information available on the Law, and its application and implementation.

Resumen: La Ley de Acceso Justo al Hábitat (2012) de la provincia de Buenos Aires asume la complejidad de la problemática urbano-habitacional desde una perspectiva integral estableciendo la gestión democrática de la ciudad como uno de sus principios rectores. En pos de ello, se crea, en el ámbito de la autoridad de aplicación, el Consejo Provincial de Vivienda y Hábitat (CPVH) que debe actuar como órgano multiactoral de consulta y asesoramiento de políticas y programas desarrollados en el marco de la Ley. Recuperando una mirada del “Estado desde adentro” (Bohoslavsky y Soprano; 2010) nos proponemos analizar cómo se construye la agenda institucional del CPVH desde su creación (2015) hasta 2020. Nos preguntamos qué temáticas se discuten y cuáles se definen como problemas públicos y, eventualmente, se orientan hacia la formulación de alternativas de solución (Tamayo Saéz; 1997), como parte de la implementación de la Ley. Concluimos en que dicha agenda estuvo mayoritariamente supeditada a la participación y representatividad de los diferentes actores, quienes marcaron el rumbo de los debates y temas tratados que, a grandes rasgos, giraron en torno a la conformación del CPVH, a la difusión, capacitación e información disponible sobre la Ley y a su aplicación e implementación.

Resumen El objetivo de la presente investigación fue analizar cualitativamente las expectativas de niños y sus padres frente a la psicoterapia infantil desde la perspectiva de cada uno de ellos, y relacionar los elementos que intervienen en el proceso de construcción de dichas expectativas. Los participantes de este estudio fueron 10 díadas compuestas por niños entre 7 a 10 años y sus padres. La información se recolectó a través de un total de 20 entrevistas semiestructuradas, realizadas en forma independiente a cada participante antes de la sesión de ingreso a la terapia. Se realizó un análisis cualitativo de la información basándose en procedimientos de codificación abierta y axial propuestos por la Teoría Fundamentada. Los resultados muestran que los niños desarrollan expectativas sobre el proceso y los resultados, a partir de las experiencias previas con psicólogos y de la información entregada por los padres acerca de la función del psicólogo como “alguien que ayuda”. Los resultados esperados por los niños son “sentirse mejor” y relacionarse mejor con los pares. En el caso de los padres sus expectativas se construyen con base en experiencias psicológicas previas y la información obtenida del contexto sociocultural. Estas experiencias influyen en su visión psicológica del problema de su hijo y en una percepción de la función del psicólogo como un profesional que ayuda, no sólo a su hijo, sino también a ellos en el desarrollo de habilidades parentales. Además, a partir de estas experiencias los padres esperan tener un rol más participativo en el proceso de sus hijos.

Abstract This research aims to analyze qualitatively children and their parents’ expectation regarding child psychotherapy, and the relationship between the different variables involved in the process of building these expectations. 10 dyads, consisted of children aged between 7 and 10 and their parents, were the participants. The study included a total of 20 semi-structured interviews, applied to each participant separately. Afterwards, a qualitative analysis of the information was conducted, based on Grounded Theory procedures of open and axial coding. The results show that children develop expectations about the process and outcomes from previous experiences with psychologists and from information provided by parents about the role of the psychologist as "someone who helps”. In the parents´ case, their expectations are constructed based on prior psychological experiences and information obtained from the sociocultural context. These experiences influence the parents’ psychological view about their child's problem and a perception of the psychologist's role as a professional who helps not only their child, but also them in the development of parenting skills. Additionally, from these experiences, parents expect to adopt a more participatory role in their children’s process.

The aim was to evaluate the seed germination requirements of Phacelia secunda J.F. Gmel. and Eryngium paniculatum Cav. y Dombey ex F. Delaroche, perennial herbaceous colonizers of degraded environments of northwest Argentinian Patagonia and of interest for ecological restoration. The germination percentage, mean germination time and time until initiation of germination of a control (C) and two pre-germination treatments: mechanical scarification with a scalpel (EM) and 45 days cold moist stratification (EHF) were evaluated. In P. secunda, the germination percentage in EHF treatment (2%) was lower than in C (24%) and EM (16%) treatment. In E. paniculatum, differences between C (94%) and EHF (82%) were found, but not between C and EM (91%). EHF treatment accelerated the germination initiation in both species. Seeds of P. secunda showed low germination capacity being necessary to evaluate new treatments. Eryngium paniculatum showed high germination capacity in the control. Thus this species does not require specific pre-germination treatments.

El objetivo fue evaluar los requerimientos de germinación de Phacelia secunda J.F. Gmel. y Eryngium paniculatum Cav. y Dombey ex F. Delaroche, herbáceas perennes colonizadoras de ambientes degradados del noroeste patagónico argentino y de interés para la restauración ecológica. Se evaluó el porcentaje, tiempo medio e inicio de germinación en un control (C) y dos tratamientos pre-germinativos: escarificación mecánica con bisturí (EM) y estratificación húmeda fría durante 45 días (EHF). En P. secunda, el porcentaje de germinación en el tratamiento EHF (2%) fue menor que en el C (24%) y el tratamiento EM (16%). En E. paniculatum se encontraron diferencias entre el C (94%) y el tratamiento EHF (82%), pero no entre el C y EM (91%). El tratamiento EHF aceleró el inicio de la geminación en ambas especies. Las semillas de P. secunda mostraron baja capacidad de germinación siendo necesario evaluar nuevos tratamientos. Eryngium paniculatum mostró alta capacidad germinativa aún en el control, lo que evidencia que no requiere tratamientos pregerminativos específicos.

We report an outbreak of norovirus(NoV) which occurred at a military training center in Peru. Thirteenstool samples that were taken from initial cases turned out positive for NoV GII by RT-PCR. A case-control study was performedto determine factorsassociated with infection.164 probable cases (45.2%clinical attack rate) were identified. The only factor associatedwith infection was "having shared room with a case" (ORa = 1.7; 95% CI 1.1 to 2.7).Epidemiological findings suggestthat the virus was spread person to person. Future investigations of outbreaks of diarrhea in Peru should consider the NoV as an etiologicagent

Reportamos un brote de norovirus (NoV) ocurrido en un centro de entrenamiento militar peruano. Trece muestras de heces tomadas de casos iniciales resultaron positivas a NoV GII por RT-PCR. Se realizó un estudio caso-control para determinar factoresasociados a la infección. Se identificó 164 casos probables(tasa de ataqueclínica: 45,2%). El único factor asociado a la infecciónfue el "haber compartido habitación con un caso" (ORa=1,7; IC95% 1,1 a 2,7). Los hallazgos epidemiológicos sugieren que el virus fue propagado persona a persona. Futuras investigaciones de brotes de diarrea en el Perú deberían considerar al NoV como un agente etiológico

We report an outbreak of norovirus(NoV) which occurred at a military training center in Peru. Thirteenstool samples that were taken from initial cases turned out positive for NoV GII by RT-PCR. A case-control study was performedto determine factorsassociated with infection.164 probable cases (45.2%clinical attack rate) were identified. The only factor associatedwith infection was "having shared room with a case" (ORa = 1.7; 95% CI 1.1 to 2.7).Epidemiological findings suggestthat the virus was spread person to person. Future investigations of outbreaks of diarrhea in Peru should consider the NoV as an etiologicagent

Reportamos un brote de norovirus (NoV) ocurrido en un centro de entrenamiento militar peruano. Trece muestras de heces tomadas de casos iniciales resultaron positivas a NoV GII por RT-PCR. Se realizó un estudio caso-control para determinar factoresasociados a la infección. Se identificó 164 casos probables(tasa de ataqueclínica: 45,2%). El único factor asociado a la infecciónfue el "haber compartido habitación con un caso" (ORa=1,7; IC95% 1,1 a 2,7). Los hallazgos epidemiológicos sugieren que el virus fue propagado persona a persona. Futuras investigaciones de brotes de diarrea en el Perú deberían considerar al NoV como un agente etiológico

INTRODUCTION: The South American country Chile now boasts a life expectancy of over 80 years. As a consequence, Chile now faces the increasing social and economic burden of cancer and must implement political policy to deliver equitable cancer care. Hindering the development of a national cancer policy is the lack of comprehensive analysis of cancer infrastructure and economic impact. OBJECTIVES: Evaluate existing cancer policy, the extent of national investigation and the socio-economic impact of cancer to deliver guidelines for the framing of an equitable national cancer policy. METHODS: Burden, research and care-policy systems were assessed by triangulating objective system metrics -epidemiological, economic, etc. - with political and policy analysis. Analysis of the literature and governmental databases was performed. The oncology community was interviewed and surveyed. RESULTS: Chile utilizes 1% of its gross domestic product on cancer care and treatment. We estimate that the economic impact as measured in Disability Adjusted Life Years to be US$ 3.5 billion. Persistent inequalities still occur in cancer distribution and treatment. A high quality cancer research community is expanding, however, insufficient funding is directed towards disproportionally prevalent stomach, lung and gallbladder cancers. CONCLUSIONS: Chile has a rapidly ageing population wherein 40% smoke, 67% are overweight and 18% abuse alcohol, and thus the corresponding burden of cancer will have a negative impact on an affordable health care system. We conclude that the Chilean government must develop a national cancer strategy, which the authors outline herein and believe is essential to permit equitable cancer care for the country.

Objective: To identify Malassezia species in healthy skin seborrhea areas in Lima inhabitants. Design: Cross-sectional study. Setting: Daniel Alcides Carrion Tropical Medicine Institute, Universidad Nacional Mayor de San Marcos, Lima, Peru. Participants: Asymptomatic persons. Interventions: Skin samples were collected from 129 asymptomatic residents of several districts of Lima city using Mariat and Adan-Campos’ technique. Malassezia isolation was performed in modified Dixon medium and incubated at 32° C for 7 days. Colonies were identified by macro and micro morphological characteristics and typing was determined by biochemical and physiological properties using Guillot’s technique. Main outcome measures: Malassezia species, participants’ gender, age and anatomical region. Results: Malassezia spp was isolated in 43.4% of the residents, 49.2% in men and 37.5% in women. From various body regions 68 cultures were positive: scalp 31 (45.6%), back 36 (52.9%) and frontal region 1 (1.5%). Isolates most common age group (47.2%) was that of adolescents-young (14-25 year-old). M. slooffiae was found in 83.8% and M. obtusa in 16.2% of cases. Conclusions: Malassezia spp. was present in healthy human skin. M. slooffiae was the predominant species in positive cases (83.8%) followed by M. obtusa (16.2%).

Objetivo: Identificar las especies de Malassezia en zonas seborreicas de piel sana en población limeña. Diseño: Estudio descriptivo transversal. Lugar: Instituto de Medicina Tropical ‘Daniel Alcides Carrión’, Universidad Nacional Mayor de San Marcos, Lima, Perú. Participantes: Pobladores asintomáticos. Intervenciones: Empleando la técnica de Mariat y Adan-Campos, se recolectó muestras de piel de 129 pobladores asintomáticos de diversos distritos de la ciudad de Lima. El aislamiento de Malassezia se realizó en medio Dixon modificado e incubado a 32ºC por 7 días, la identificación de las colonias por sus características macro y micromorfológicas, y la tipificación mediante el estudio de las propiedades bioquímicas y fisiológicas según la técnica de Guillot y col. Principales medidas de resultados: Especie de Malassezia, sexo, edad y región anatómica. Resultados: Se aisló Malassezia spp en 43,4% de los pobladores, obteniéndose 49,2% en varones y 37,5% en mujeres. De las diferentes regiones corporales, 68 cultivos fueron positivos: cuero cabelludo 31 (45,6%), espalda 36 (52,9%) y región frontal 1 (1,5%). El grupo etario con mayor frecuencia de aislamientos (47,2%) fue el de 14 a 25 años (adolescentes jóvenes). M. slooffiae fue encontrado en 83,8% y M. obtusa en 16,2% de los casos. Conclusiones: Se encontró Malassezia spp. en la piel humana sana. M. slooffiae fue la especie predominante de los casos positivos (83,8%) seguido de M. obtusa (16,2%).

A rare blood group is usually defined as the absence of a high prevalence antigen or the absence of several antigens within a single blood group system. These individuals may develop clinically significant red cell antibodies to the high incidence red cell antigens they lack. A 33-year-old alloimmunized woman was referred to our center at the 12th week of her third pregnancy for evaluation and follow up. The laboratory work-up grouped her as belonging to "p" phenotype, associated with difficulties to find compatible blood for transfusion and a high incidence of recurrent miscarriage. At 36 weeks, a baby girl was born by induced labor due to fetal suffering. With a negative direct antiglobulin test but a positive elution test, she was in the neonatology ward for one week receiving luminotherapy. Homozygosity for a missense mutation at position 752 (c.752C > T) in the A4GALT gene was found to be responsible for the p phenotype. This mutation changes a proline to a leucine at codon 251 of the 4-α-galactosyltransferase. Recently, due to an imminent chirurgical intervention and the impossibility to have compatible blood available for transfusion, an autologous donation plan was designed to satisfy probable demand. This case showed the need for blood bank facilities capable to respond satisfactorily to these situations in Argentina. This would facilitate the storage of cryopreserved blood from individuals with rare blood groups for homologous use or to develop rare blood donors programs.

Un individuo con un fenotipo eritrocitario raro carece de uno o varios antígenos presentes en la mayor parte de la población de pertenencia. Cuando presenta el anticuerpo correspondiente, se pueden producir complicaciones perinatales, transfusionales y/o transplantológicas. Se presenta el caso de una embarazada aloinmunizada derivada a nuestro servicio en la semana 12 de su tercera gesta para su evaluación y seguimiento. El diagnóstico inmunohematológico le asignó el excepcional fenotipo "p" (aproximadamente 1/200 000 individuos), asociado con una mayor tasa de abortos espontáneos y a reacciones transfusionales graves cuando se transfunden unidades incompatibles. El estudio del gen A4GALT demostró la presencia de la mutación c.752C > T en doble dosis. Esta mutación lleva a un cambio de una prolina por una leucina en el residuo 251 de la 4-α-galactosiltransferasa. Por parto inducido por sufrimiento fetal, nace a las 36 semanas una bebé con prueba de antiglobulina (Coombs) directa negativa, eluido reactivo, con ictericia que requirió luminoterapia. Una semana después el neonato fue externado sin secuelas aparentes. Posteriormente, a raíz de una cirugía inminente y la improbabilidad de encontrar sangre compatible, se elaboró un plan para cubrir las posibles demandas. Este caso pone en evidencia la necesidad de contar a nivel nacional con un laboratorio de referencia de inmunohematología y un banco de sangre de grupos raros, que permita resolver con celeridad situaciones que requieran transfundir a estos individuos.

Las levaduras del género Malassezia forman parte de la piel normal del hombre y otros vertebrados. La reciente descripción de nuevas especies para el género ha incentivado interés en el estudio de las mismas en diversos países, por lo tanto, es importante realizar investigaciones tendentes a obtener datos epidemiológicos de las especies de Malassezia en países tropicales como Venezuela, en el cual este tipo de trabajo no se ha reportado. El estudio se realizó en piel sana de población estudiantil universitaria. Las muestras fueron tomadas de diferentes áreas del cuerpo e inoculadas en el medio modificado de Dixon y Sabouraud Dextrosa Agar a 32°C. La identificación se realizó siguiendo las claves para la identificación de especies descrita por Gueho y colaboradores y el test de difusión en tween propuesto por Guillot y colaboradores. En esta investigación la especie aislada fue M. furfur, correspondiendo el mayor porcentaje de positividad al grupo etáreo de 16 a 20 años (66,7%). Las localizaciones anatómicas predominantes fueron espalda y pecho. (33,3 y 26,6%) Según las pruebas estadísticas aplicadas, Test exacto de Fisher’s y Chi cuadrado, no se encontró diferencias significativas entre los grupos evaluados. Cabe destacar la importancia de continuar las investigaciones en otros grupos etarios, para establecer cuales son las especies prevalentes en nuestra región y evaluar su potencial patógeno

The yeasts of the Malassezia genus are part of the normal skin of man and other vertebrates. The description of new species for this genus has induced on their study in several countries. For this reason, is important to do research in order to get epidemiologic data about Malassezia species in tropical countries like Venezuela, where the new Malassezia species have not been reported This study was made on healthy skin of a university student population. The samples were taken from different body areas and inoculated in Dixon modified medium and Sabouraud dextrose agar medium e incubated at 32°C. The identification was achieved following the key of species described by Gueho et al. and the tween diffusion test proposed by Guillot et al. In this investigation the isolated specie was M. furfur, corresponding the major positive percentage to the age group from 16 to 20 years old (66.7%). The presence of Malassezia was predominant on shoulder and chest (33.3% and 26.6%). There were not found significant differences between the evaluated groups, as was demonstrated by the applied statistical tests, exact Fisher’s test and Chi square test. It is important to continue the investigations on other age groups, in order to establish the prevalent species in our region and evaluate their pathogenic potential

OBJETIVO: A síndrome de Noonan é uma patologia de múltiplas anomalias congênitas e, dentre os achados clínicos, a diátese hemorrágica está incluída. O propósito deste estudo é determinar a freqüência de anormalidades hemostáticas nos pacientes afetados. MÉTODO: Nós estudamos 30 pacientes afetados pela síndrome quanto aos aspectos hematológicos que consistiu de tempo de sangramento, tempo de protrombina, tempo de tromboplastina parcial ativada, tempo de trombina, contagem de plaquetas e dosagem do fator de coagulação XI. RESULTADOS: Um resultado laboratorial anormal foi observado em 9 desses pacientes (30%). Apesar dos achados mais comuns terem sido as deficiências dos fatores de coagulação, especialmente do fator XI, também observamos anormalidades no número e na função plaquetária. CONCLUSÕES: Anormalidades hemostáticas são observadas com certa freqüência em pacientes com síndrome de Noonan (30% em nossa amostra). Enfatizamos, portanto, a importância de uma investigação hematológica mais detalhada nesses pacientes, especialmente antes da realização de um procedimento invasivo, o qual é requerido com certa freqüência na síndrome.

OBJECTIVE: Noonan syndrome is a multiple congenital anomaly syndrome, and bleeding diathesis is considered part of the clinical findings. The purpose of this study was to determine the frequency of hemostatic abnormalities in a group of Noonan syndrome patients. METHOD: We studied 30 patients with clinical diagnosis of Noonan syndrome regarding their hemostatic status consisting of bleeding time, prothrombin time, activated partial thromboplastin time and thrombin time tests, a platelet count, and a quantitative determination of factor XI. RESULTS: An abnormal laboratory result was observed in 9 patients (30%). Although coagulation-factor deficiencies, especially factor XI deficiency, were the most common hematological findings, we also observed abnormalities of platelet count and function in our screening. CONCLUSIONS: Hemostatic abnormalities are found with some frequency in Noonan syndrome patients (30% in our sample). Therefore, we emphasize the importance of a more extensive hematological investigation in these patients, especially prior to an invasive procedure, which is required with some frequency in this disorder.

OBJECTIVE: To evaluate cardiac findings in 31 Noonan syndrome patients. METHODS: Thirty-one (18 males and 13 females)patients from 26 families affected with Noonan's syndrome were evaluated from the cardiac point of view with electrocardiography and echodopplercardiography. RESULTS: Twenty patients had some type of cardiac abnormality. The most frequent was pulmonary valve stenosis followed by hypertrophic myocardiopathy, commonly associated with valve defects. Upper deviation of the QRS axis was observed in 80% of these patients. CONCLUSION: In view of the high frequency and diversity of cardiac abnormalities present in Noonan syndrome, cardiac evaluation with electrocardiography and echocardiography should be performed in all patients diagnostically suspected of having this disease.

A síndrome de Noonan é uma patologia de múltiplas anomalias congênitas, herdada em um padrão de herança autossômico dominante. Estudamos 31 pacientes (18 do sexo masculino e 13 do sexo feminino) afetados por essa síndrome quanto aos aspectos clínicos e genéticos. As características clínicas mais freqüentemente observadas foram a baixa estatura (71%); os dismorfismos craniofaciais, principalmente o hipertelorismo, a ptose e a inclinação ínfero-lateral das fendas palpebrais; o pescoço curto ou alado (87%); as anomalias cardíacas (65%) e a presença de coxins nas pontas dos dedos das mãos e pés (70%). Após estudarmos os parentes de primeiro grau dos probandos, fizemos o diagnóstico da Síndrome de Noonan em um deles em três famílias. Portanto, a maioria dos nossos casos foram esporádicos.

Noonan syndrome is a multiple congenital anomaly syndrome, inherited in an autosomal dominant pattern. We studied 31 patients (18 males and 13 females) affected by this disorder regarding their clinical and genetic characteristics. The most frequent clinical findings were short stature (71%); craniofacial dysmorphisms, especially hypertelorism, ptosis, downslanting of the palpebral fissures; short or webbed neck (87%); cardiac anomalies (65%), and fetal pads in fingers and toes (70%). After studying the probands' first-degree relatives, we made the diagnosis of Noonan syndrome in more than one family member in three families. Therefore, the majority of our cases were sporadic.

A síndrome de Melnick-Needles é uma displasia esquelética ligada ao X e letal no sexo masculino. Caracteriza-se pela presença de um fácies típico e dos seguintes achados radiológicos: esclerose dos ossos da base do crânio e mastóide, tíbia em forma de "S"; irregularidades corticais e costelas com aspecto de fita ("ribbon-like"). A maioria dos 48 casos já relatados na literatura (bem documentados), eram esporádicos, observando-se transmissão parental em apenas 11 famílias. Estudamos a primeira família brasileira com transmissão mãe-filha, cuja propósita apresentava o fácies e as manifestações radiológicas características da síndrome, além de uma restrição pulmonar importante e hipertensão pulmonar. Sua mãe, também afetada, mostrava um quadro clínico e radiológico mais leves.

Melnick-Needles syndrome is an X-linked dominant bone dysplasia, lethal in males, characterized by a typical facies and characteristic radiological findings: including sclerosis of skull base and mastoids, S-shaped appearance of tibia; cortical irregularities with a ribbon appearance of the ribs. About 48 well-documented cases have been reported, most of them were sporadic. Parental transmission has been published in only 11 kindreds. We are presenting the first Brazilian family with mother-daughter transmission.The proposita presented the typical clinical and radiological features with characteristic facies, severe thoracic cage restriction and pulmonary hypertension. Her mother was more mildly affected.