FODMAP Content Like-by-like Comparison in Spanish Gluten-free and Gluten-containing Cereal-based Products.

Gluten-free foods (GF) availability on supermarket shelves is growing and it is expected to continue expanding in the years ahead. These foods have been linked to a lower content of fermentable oligosaccharides, disaccharides, monosaccharides and polyols (FODMAPs), molecules that trigger gastrointestinal symptoms in sensitive persons. In this study, the FODMAP content of 25 cereal-based GF foods in Spain (breakfast cereals, pasta, bread, biscuits, bakery products, and dough and puff pastry) and 25 gluten-containing equivalents (GC) available in the same supermarket were analysed and compared. Lactose, fructose, glucose, sorbitol, mannitol, raffinose, stachyose and fructans were quantified. In a like-by-like analysis, GF foods were found to generally contain fewer FODMAPs than their GC counterparts. The ingredients used in the manufacture of GF cereal-based foods may contribute to this fact. When the individually wrapped size was considered, the proportion of samples classified as high-FODMAPs in GC and GF foods showed a trend towards fewer samples in the GF. However, not all the GF samples were low-FODMAP. Altogether, our findings provide essential information for FODMAP content databases of GF products in Spain.

Validation of clinical exome sequencing in the diagnostic procedure of patients with intellectual disability in clinical practice.

Intellectual disability (ID) has a prevalence of 1-3% and aproximately 30-50% of ID cases have a genetic cause. Development of next-generation sequencing has shown a high diagnostic potential. The aim of this work was to evaluate the diagnostic yield of clinical exome sequencing in 188 ID patients and the economic impact of its introduction in clinical practice. An analysis of diagnostic yield according to the different clinical variables was performed in order to establish an efficient diagnostic protocol for ID patients. Diagnostic yield of clinical exome sequencing was significant (34%) supporting its utility in diagnosis of ID patients. Wide genetic heterogeneity and predominance of autosomal dominant de novo variants in ID patients were observed. Time to diagnosis was shortened and diagnostic study costs decreased by 62% after implementation of clinical exome sequencing. No association was found between any of the variables analyzed and a higher diagnostic yield; added to the fact that many of the diagnoses weren't clinically detectable, the reduction of time to diagnosis and the economic savings with respect to classical diagnostic studies, strengthen the clinical and economical convenience of early implementation of clinical exome sequencing in the diagnostic workup of ID patients in clinical practice.

Clinical utility of genetic testing in early-onset kidney disease: seven genes are the main players.

BACKGROUND: Inherited kidney diseases are one of the leading causes of chronic kidney disease (CKD) that manifests before the age of 30 years. Precise clinical diagnosis of early-onset CKD is complicated due to the high phenotypic overlap, but genetic testing is a powerful diagnostic tool. We aimed to develop a genetic testing strategy to maximize the diagnostic yield for patients presenting with early-onset CKD and to determine the prevalence of the main causative genes. METHODS: We performed genetic testing of 460 patients with early-onset CKD of suspected monogenic cause using next-generation sequencing of a custom-designed kidney disease gene panel in addition to targeted screening for c.428dupC MUC1. RESULTS: We achieved a global diagnostic yield of 65% (300/460), which varied depending on the clinical diagnostic group: 77% in cystic kidney diseases, 76% in tubulopathies, 67% in autosomal dominant tubulointerstitial kidney disease, 61% in glomerulopathies and 38% in congenital anomalies of the kidney and urinary tract. Among the 300 genetically diagnosed patients, the clinical diagnosis was confirmed in 77%, a specific diagnosis within a clinical diagnostic group was identified in 15%, and 7% of cases were reclassified. Of the 64 causative genes identified in our cohort, 7 (COL4A3, COL4A4, COL4A5, HNF1B, PKD1, PKD2 and PKHD1) accounted for 66% (198/300) of the genetically diagnosed patients. CONCLUSIONS: Two-thirds of patients with early-onset CKD in this cohort had a genetic cause. Just seven genes were responsible for the majority of diagnoses. Establishing a genetic diagnosis is crucial to define the precise aetiology of CKD, which allows accurate genetic counselling and improved patient management.

Treatment and long-term outcome in primary nephrogenic diabetes insipidus.

BACKGROUND: Primary nephrogenic diabetes insipidus (NDI) is a rare disorder and little is known about treatment practices and long-term outcome. METHODS: Paediatric and adult nephrologists contacted through European professional organizations entered data in an online form. RESULTS: Data were collected on 315 patients (22 countries, male 84%, adults 35%). Mutation testing had been performed in 270 (86%); pathogenic variants were identified in 258 (96%). The median (range) age at diagnosis was 0.6 (0.0-60) years and at last follow-up 14.0 (0.1-70) years. In adults, height was normal with a mean (standard deviation) score of -0.39 (±1.0), yet there was increased prevalence of obesity (body mass index >30 kg/m2; 41% versus 16% European average; P < 0.001). There was also increased prevalence of chronic kidney disease (CKD) Stage ≥2 in children (32%) and adults (48%). Evidence of flow uropathy was present in 38%. A higher proportion of children than adults (85% versus 54%; P < 0.001) received medications to reduce urine output. Patients ≥25 years were less likely to have a university degree than the European average (21% versus 35%; P = 0.003) but full-time employment was similar. Mental health problems, predominantly attention-deficit hyperactivity disorder (16%), were reported in 36% of patients. CONCLUSION: This large NDI cohort shows an overall favourable outcome with normal adult height and only mild to moderate CKD in most. Yet, while full-time employment was similar to the European average, educational achievement was lower, and more than half had urological and/or mental health problems.

Características clínicas, epidemiológicas y riesgo obstétrico de las pacientes con preeclampsia-eclampsia / Clinical, epidemiological and obstetric risk characteristics of patients with preeclampsia-eclampsia

Introducción: la preeclampsia es un trastorno multisistémico cuyos criterios clínicos no han cambiado en la última década. De acuerdo con la OMS, la incidencia de preeclampsia oscila entre el 2 y 10% del total de embarazos, y su prevalencia es siete veces mayor en los países en vías de desarrollo que en los países desarrollados. Objetivo: describir las características epidemiológicas, clínicas y antecedentes obstétricos de las pacientes con diagnóstico de preeclampsia-eclampsia de la unidad de cuidados intensivos adultos (UCIA). Métodos: estudio descriptivo transversal retrospectivo, se incluyeron 20 expedientes clínicos de las pacientes entre 13 y 45 años de edad, con embarazo ≥ 20 semanas de gestación de la unidad de cuidados intensivos adultos, con diagnóstico confirmado de preeclampsia-eclampsia. Se aplicó un instrumento diseñado para el estudio. Resultados: edad promedio de 28.45 ± 6.57 años. El 55% presentó preeclampsia severa y síndrome de HELLP el 60%. Con estancia en la UCIA de 2.4 ± 1.43 días. Conclusiones: aunque los datos no fueron suficientes para documentar, la proporción de pacientes con hipertensión arterial y antecedentes de preeclampsia, así como, hipertensión arterial de comorbilidad fue superior a lo referido en un estudio con embarazadas en Colombia de 12.4%.

Introduction: Preeclampsia is a multisystem disorder whose clinical criteria have not changed in the last decade. According to the WHO, the incidence of preeclampsia varies between 2% and 10% of all pregnancies, and its prevalence is seven times higher in developing countries than in developed countries. Objective: To describe the epidemiological and clinical characteristics and obstetric history of patients diagnosed with preeclampsia-eclampsia of the adult intensive care unit (ICU). Methods: A retrospective cross-sectional descriptive study, 20 clinical files were included of patients between 13 and 45 years of age, with pregnancy ≥ 20 weeks gestation of the adult intensive care unit, with a confirmed diagnosis of preeclampsia- eclampsia. An instrument designed for the study was applied. Results: Average age 28.45 ± 6.57 years. 55% presented severe preeclampsia and HELLP syndrome 60%. With a stay in the UCIA of 2.4 ± 1.43 days. Conclusions: Although the data were not enough to document, the proportion of patients with hypertension and a history of preeclampsia, as well as, comorbidity hypertension were higher than that reported in a study with pregnant women in Colombia of 12.4%.

Fundamentos teóricos del desempeño de los médicos y enfermeros en el manejo de la Rabia / Theoretical foundations of the doctors and nurses' performance in the management of Rabies

RESUMEN Fundamento en el informe del año 2016, la Organización Mundial de la Salud reportó que 55 000 personas fallecen por rabia en África y Asia y la vacuna no es la mejor manera de prevenir la enfermedad por su elevado costo, en este análisis realizado por la Organización Mundial de la Salud, declara que el 95 % de los pacientes son menores de 15 años. Objetivo: describir la sistematización de los fundamentos teóricos que sustentan la preparación para el desempeño de médico y enfermero de la familia en el manejo de la rabia. Métodos: se realizó un estudio descriptivo en el período 2012 a noviembre de 2017, la investigación se sustenta desde la concepción dialéctico-materialista, para la obtención de los datos y el procesamiento de la información se emplearon como métodos teóricos (análisis documental, sistematización e histórico-lógico), médicos y enfermeros de la familia del municipio Boyeros. Resultados: la sistematización realizada permitió encontrar regularidades que se convierten en antecedentes a la definición operativa que se propone sobre desempeño del médico y enfermero de la familia en el manejo de la rabia a partir de los fundamentos de la educación médica como teoría educativa. Conclusiones: la sistematización realizada sobre el mejoramiento del desempeño del médico y enfermero de la familia, permitió establecer un acercamiento centrado en los referentes teóricos que sustentan el mejoramiento del desempeño del médico y enfermero de la familia, al identificar los principios de la Educación en el Trabajo para el desempeño de este personal en el manejo de la rabia.

ABSTRACT Background in the report of 2016, the World Health Organization (WHO) reported that 55 000 people died of rabies in Africa and Asia and the vaccine is not the best way to prevent the illness because of the high cost, in this analysis carried out by the WHO, declares 95 % of patients are younger than 15 years old. Objective to describe the systematization the theoretical foundations that support the preparation for exert of doctor and nurse of family in the management of the Rabies. Methods: it was conducted a descriptive study in the period 2012-2017, the investigation is supported from the dialectic-materialist conception, for the obtaining of data and the processing the information was employed as theoretical methods (documentary analysis, systematization and historical-logical), doctors and nurses of family in the municipality Boyeros. Results: the carried out systematization allowed to find regularities that turn into antecedents for operative definition that proposes on exert of the doctor and nurse of family in the management of rabies from foundations of the medical education as educational theory. Conclusions: the carried out systematization on the improvement of the exert of the doctor and nurse of family, allowed to establish an approach centered in theoretical referents that support the improvement of exert of the doctor and nurse of family, identifying the principles of education in the work for the exert of these personnel in the management of rabies.

Fundamentos teóricos del desempeño de los médicos y enfermeros en el manejo de la Rabia / Theoretical foundations of the doctors and nurses performance in the management of Rabies

Fundamento en el informe del año 2016, la Organización Mundial de la Salud reportó que 55 000 personas fallecen por rabia en África y Asia y la vacuna no es la mejor manera de prevenir la enfermedad por su elevado costo, en este análisis realizado por la Organización Mundial de la Salud, declara que el 95 porciento de los pacientes son menores de 15 años.Objetivo: describir la sistematización de los fundamentos teóricos que sustentan la preparación para el desempeño de médico y enfermero de la familia en el manejo de la rabia. Métodos: se realizó un estudio descriptivo en el período 2012 a noviembre de 2017, la investigación se sustenta desde la concepción dialéctico-materialista, para la obtención de los datos y el procesamiento de la información se emplearon como métodos teóricos (análisis documental, sistematización e histórico-lógico), médicos y enfermeros de la familia del municipio Boyeros.Resultados: la sistematización realizada permitió encontrar regularidades que se convierten en antecedentes a la definición operativa que se propone sobre desempeño del médico y enfermero de la familia en el manejo de la rabia a partir de los fundamentos de la educación médica como teoría educativa. Conclusiones: la sistematización realizada sobre el mejoramiento del desempeño del médico y enfermero de la familia, permitió establecer un acercamiento centrado en los referentes teóricos que sustentan el mejoramiento del desempeño del médico y enfermero de la familia, al identificar los principios de la Educación en el Trabajo para el desempeño de este personal en el manejo de la rabia(AU)

Background in the report of 2016, the World Health Organization (WHO) reported that 55 000 people died of rabies in Africa and Asia and the vaccine is not the best way to prevent the illness because of the high cost, in this analysis carried out by the WHO, declares 95 percent of patients are younger than 15 years old. Objective to describe the systematization the theoretical foundations that support the preparation for exert of doctor and nurse of family in the management of the Rabies. Methods: it was conducted a descriptive study in the period 2012-2017, the investigation is supported from the dialectic-materialist conception, for the obtaining of data and the processing the information was employed as theoretical methods (documentary analysis, systematization and historical-logical), doctors and nurses of family in the municipality Boyeros.Results: the carried out systematization allowed to find regularities that turn into antecedents for operative definition that proposes on exert of the doctor and nurse of family in the management of rabies from foundations of the medical education as educational theory. Conclusions: the carried out systematization on the improvement of the exert of the doctor and nurse of family, allowed to establish an approach centered in theoretical referents that support the improvement of exert of the doctor and nurse of family, identifying the principles of education in the work for the exert of these personnel in the management of rabies(AU)

A kidney-disease gene panel allows a comprehensive genetic diagnosis of cystic and glomerular inherited kidney diseases.

Molecular diagnosis of inherited kidney diseases remains a challenge due to their expanding phenotypic spectra as well as the constantly growing list of disease-causing genes. Here we develop a comprehensive approach for genetic diagnosis of inherited cystic and glomerular nephropathies. Targeted next generation sequencing of 140 genes causative of or associated with cystic or glomerular nephropathies was performed in 421 patients, a validation cohort of 116 patients with previously known mutations, and a diagnostic cohort of 207 patients with suspected inherited cystic disease and 98 patients with glomerular disease. In the validation cohort, a sensitivity of 99% was achieved. In the diagnostic cohort, causative mutations were found in 78% of patients with cystic disease and 62% of patients with glomerular disease, mostly familial cases, including copy number variants. Results depict the distribution of different cystic and glomerular inherited diseases showing the most likely diagnosis according to perinatal, pediatric and adult disease onset. Of all the genetically diagnosed patients, 15% were referred with an unspecified clinical diagnosis and in 2% genetic testing changed the clinical diagnosis. Therefore, in 17% of cases our genetic analysis was crucial to establish the correct diagnosis. Complex inheritance patterns in autosomal dominant polycystic kidney disease and Alport syndrome were suspected in seven and six patients, respectively. Thus, our kidney-disease gene panel is a comprehensive, noninvasive, and cost-effective tool for genetic diagnosis of cystic and glomerular inherited kidney diseases. This allows etiologic diagnosis in three-quarters of patients and is especially valuable in patients with unspecific or atypical phenotypes.

The role of swelling-activated chloride currents (I(CL,swell)) in the regulatory volume decrease response of freshly dissociated rat articular chondrocytes.

BACKGROUND/AIMS: Articular chondrocytes dwell in an environment that is continuously changing its osmolarity as a consequence of mechanical loading, yet their volume regulation capabilities (RVD) are not fully understood. This work aimed to determine the osmotic sensitivity of freshly isolated rat chondrocytes, their RVD capabilities and to study the properties of any anion currents associated. METHODS: Cell volume responses were determined by microscopy. Whole cell patch clamp was used to record ion currents. RESULTS: Chondrocytes showed to be osmotically sensitive and capable of RVD in a size-dependent manner. RVD was accompanied by activation of outwardly rectifying chloride currents, featuring time and voltage independent activation and inactivation at most depolarizing voltage levels, with an anion selectivity sequence of: SCN->I-≅NO3->Br->Cl->F->> Gluconate-> Methanesulphonate-, corresponding to Eisenman's sequence I. They were also permeable to taurine. These currents were blocked by DIDS, SITS, 9-AC and NPPB and by drugs that block ICl,swell such as fluoxetine, phloretin, DCPIB and tamoxifen. RT-PCR assays show the presence of mRNA for CLC-3 and TMEM16A, that had been proposed as molecular determinants of ICl,swell currents. CONCLUSIONS: These findings indicate that freshly isolated rat articular chondrocytes have ICl,swell. The further finding that ICl,swell blockers alter the RVD response suggest that ICl,swell is involved in the RVD response of rat articular chondrocytes.

Comparación entre el diagnóstico prenatal y anatomopatológico de las anomalías congénitas / Correlation between prenatal diagnosis of congenital malformations and pathological studies

Se realizó un estudio descriptivo retrospectivo de 358 necropsias de fetos, mortinatos y neonatos, analizadas en el Departamento de Anatomía Patológica del hospital ginecoobstétrico Ramón González Coro, de Ciudad de La Habana, entre los años 1996 y 2004. Fueron descartados 144 casos que no cumplían los criterios de inclusión. Las anomalías encontradas se clasificaron sobre la base del sistema anatómico mayor afectado. Se comparó la información obtenida del examen sonográfico y el anatomopatológico, con el objetivo de establecer la relación entre el diagnóstico prenatal por ultrasonido y el estudio necrópsico. La coincidencia diagnóstica entre ambos métodos de estudio fue del 82,41 porciento. El grupo de malformaciones encontrado con mayor frecuencia en las necropsias, fueron las cerebroespinales, con un 30,99 porciento, de las cuales el 13,61 porciento eran defectos del tubo neural. En este grupo, el 100 porciento de las anencefalias se diagnosticó sonográficamente y el 73 porciento de las espinas bífidas. Evaluando posteriormente a partir del examen ultrasonográfico, se encontraron 199 casos con diagnóstico de una malformación específica y el sistema mayormente afectado, fue el cerebroespinal (34,14 porciento). De estos diagnósticos positivos, 133 casos revelaron hallazgos necrópsicos idénticos (81,1 porciento), y fueron las anomalías cerebroespinales y las cardiovasculares las que mostraron mayor exactitud diagnóstica. En 31 casos se describieron hallazgos adicionales, para un 18,9 porciento y de ellos, 54,83 porciento tuvieron significado clínico. El diagnóstico prenatal se realizó antes de las 26 semanas de gestación en el 81,4 porciento y en el 18,6 porciento, después que la paciente sobrepasó las 26 semanas.

This is a retrospective study of 358 necropsies of stilbirths and newborns, performed at the Pathological Department of the Ramón Gonzßlez Coro Hospital, in Havana, between 1996 and 2004. Anomalies found were classified according to the major anatomic system affected. The aim of the study was to compare the ultrasound prenatal diagnosis and the pathological findings after the necropsy. In 82,41 percent of the cases, there was a coincidence between the two methods. Brain and spinal anomalies were the most frequent (30,99 percent). In this group, ultrasound examination identified all cases of anencephaly and 73 percent of cases with spina bifida. The correlation between ultrasound examination and necropsy was higher in cases of brain and cardiovascular malformations. Prenatal diagnosis was done before 26 weeks gestation in 81,4 percent of cases.

Comparación entre el diagnóstico prenatal y anatomopatológico de las anomalías congénitas / Correlation between prenatal diagnosis of congenital malformations and pathological studies

Se realizó un estudio descriptivo retrospectivo de 358 necropsias de fetos, mortinatos y neonatos, analizadas en el Departamento de Anatomía Patológica del hospital ginecoobstétrico Ramón González Coro, de Ciudad de La Habana, entre los años 1996 y 2004. Fueron descartados 144 casos que no cumplían los criterios de inclusión. Las anomalías encontradas se clasificaron sobre la base del sistema anatómico mayor afectado. Se comparó la información obtenida del examen sonográfico y el anatomopatológico, con el objetivo de establecer la relación entre el diagnóstico prenatal por ultrasonido y el estudio necrópsico. La coincidencia diagnóstica entre ambos métodos de estudio fue del 82,41 porciento. El grupo de malformaciones encontrado con mayor frecuencia en las necropsias, fueron las cerebroespinales, con un 30,99 porciento, de las cuales el 13,61 porciento eran defectos del tubo neural. En este grupo, el 100 porciento de las anencefalias se diagnosticó sonográficamente y el 73 porciento de las espinas bífidas. Evaluando posteriormente a partir del examen ultrasonográfico, se encontraron 199 casos con diagnóstico de una malformación específica y el sistema mayormente afectado, fue el cerebroespinal (34,14 porciento). De estos diagnósticos positivos, 133 casos revelaron hallazgos necrópsicos idénticos (81,1 porciento), y fueron las anomalías cerebroespinales y las cardiovasculares las que mostraron mayor exactitud diagnóstica. En 31 casos se describieron hallazgos adicionales, para un 18,9 porciento y de ellos, 54,83 porciento tuvieron significado clínico. El diagnóstico prenatal se realizó antes de las 26 semanas de gestación en el 81,4 porciento y en el 18,6 porciento, después que la paciente sobrepasó las 26 semanas(AU)

This is a retrospective study of 358 necropsies of stilbirths and newborns, performed at the Pathological Department of the Ramón González Coro Hospital, in Havana, between 1996 and 2004. Anomalies found were classified according to the major anatomic system affected. The aim of the study was to compare the ultrasound prenatal diagnosis and the pathological findings after the necropsy. In 82,41 percent of the cases, there was a coincidence between the two methods. Brain and spinal anomalies were the most frequent (30,99 percent). In this group, ultrasound examination identified all cases of anencephaly and 73 percent of cases with spina bifida. The correlation between ultrasound examination and necropsy was higher in cases of brain and cardiovascular malformations. Prenatal diagnosis was done before 26 weeks gestation in 81,4 percent of cases(AU)

Pre-junctional alpha2-adrenoceptors modulation of the nitrergic transmission in the pig urinary bladder neck.

AIMS: To investigate the nitric oxide (NO)-mediated nerve relaxation and its possible modulation by pre-junctional alpha2-adrenoceptors in the pig urinary bladder neck. METHODS: Urothelium-denuded bladder neck strips were dissected, and mounted in isolated organ baths containing a physiological saline solution (PSS) at 37 degrees C and continuously gassed with 5% CO2 and 95% O2, for isometric force recording. The relaxations to transmural nerve stimulation (electrical field stimulation [EFS]) or exogenously applied NO were carried out on strips pre-contracted with 1 microM phenylephrine (PhE) and treated with guanethidine (10 microM) and atropine (0.1 microM), to block noradrenergic neurotransmission and muscarinic receptors, respectively. RESULTS: EFS (0.2-1 Hz, 1 msec duration, 20 sec trains, current output adjusted to 75 mA) evoked frequency-dependent relaxations which were abolished by the neuronal voltage-activated Na+ channel blocker tetrodotoxin (TTX, 1 microM). These responses were potently reduced by the nitric oxide synthase (NOS) inhibitor NG-nitro-L-arginine (L-NOARG, 30 microM) and further reversed by the NO synthesis substrate L-arginine (L-ARG, 3 mM). The alpha2-adrenoceptor agonist BHT-920 (2 microM) reduced the electrically evoked relaxations, its effectiveness being higher on the responses induced by low frequency stimulation. BHT-920-elicited reductions were fully reversed by the alpha2-adrenoceptor antagonist rauwolscine (RAW, 1 microM). Exogenous NO (1 microM-1 mM) induced concentration-dependent relaxations which were not modified by BHT-920, thus eliminating a possible post-junctional modulation. CONCLUSIONS: These results indicate that NO is involved in the non-adrenergic non-cholinergic (NANC) inhibitory neurotransmission in the pig urinary bladder neck, the release of NO from intramural nerves being modulated by pre-junctional alpha2-adrenoceptor stimulation.

Comportamiento clínico-epidemiológico de los defectos congénitos en la ciudad de la habana / Clinicoepidemiological behavior of the congenital defects in havana city

Se realizó un estudio de los datos obtenidos por el Registro Cubano de Malformaciones Congénitas (RECUMAC) en el período de enero de 2000 a diciembre de 2002 en la Ciudad de la Habana . La población diana estuvo formada por 536 recién nacidos, vivos o muertos, a quienes se detectó al menos un defecto congénito antes del alta hospitalaria, y 657 casos interrumpidos por el programa de diagnóstico prenatal. La prevalencia al nacimiento de las malformaciones congénitas fue de 77,94 por 10 000 nacimientos. En los fetos interrumpidos, los defectos congénitos más frecuentes fueron los de cierre del tubo neural y otras malformaciones congénitas del sistema nervioso central con 117 y 106 casos respectivamente. Los 657 casos interrumpidos representaron el 55 por ciento de los malformados de Ciudad de La Habana en este período

Comportamiento clínico-epidemiológico de los defectos congénitos en la ciudad de la habana / Clinicoepidemiological behavior of the congenital defects in havana city

Se realizó un estudio de los datos obtenidos por el Registro Cubano de Malformaciones Congénitas (RECUMAC) en el período de enero de 2000 a diciembre de 2002 en la Ciudad de la Habana . La población diana estuvo formada por 536 recién nacidos, vivos o muertos, a quienes se detectó al menos un defecto congénito antes del alta hospitalaria, y 657 casos interrumpidos por el programa de diagnóstico prenatal. La prevalencia al nacimiento de las malformaciones congénitas fue de 77,94 por 10 000 nacimientos. En los fetos interrumpidos, los defectos congénitos más frecuentes fueron los de cierre del tubo neural y otras malformaciones congénitas del sistema nervioso central con 117 y 106 casos respectivamente. Los 657 casos interrumpidos representaron el 55 por ciento de los malformados de Ciudad de La Habana en este período(AU)

Programa de pesquisaje por alfafetoproteína en Ciudad de La Habana: Evaluación de aspectos organizativos e impacto psicosocial

Se realiza en Cuba el pesquisaje de malformaciones congénitas a gestantes desde 1982, y se evalúan los niveles de alfafetoproteína. Por esta razón se aplicó en Ciudad de La Habana, en el Departamento Provincial de Genética, una encuesta a 100 gestantes atendidas en este servicio por alfafetoproteína elevada, con el objetivo de evaluar los aspectos organizativos y el impacto psicosocial de este programa de pesquisaje. Se concluye que debe mejorar la información que se ofrece a la gestante sobre la utilidad de la prueba (el 18 % no había recibido información por parte del médico), aunque el 93 % evaluó bien el pesquisaje.

The screening of congenital malformations among pregnant women is conducted in Cuba Since 1982, and their alpha-fetoprotein levels are also evaluated. For this reason, a survey was applied to 100 pregnant women who receive attention at the Provincial Genetics Department, in Havana City, due to their elevated alpha-fetoprotein (AFP) with the objective of evaluating the organizational aspects and the psychosocial impact ot this screening program. It was concluded that the information given to the pregnant women about the usefulness of this should be improved (18 % of them had not received any information from the doctor), although 93 % of these patients considered the screening as good.

Programa de pesquisaje por alfafetoproteína en Ciudad de La Habana: evaluación de aspectos organizativos e impacto psicosocial / Alpha-fetoprotein screening program in Havana City: evaluation of the organizational aspects and psychosocial impact

Se realiza en Cuba el pesquisaje de malformaciones congénitas a gestantes desde 1982, y se evalúan los niveles de alfafetoproteína. Por esta razón se aplicó en Ciudad de La Habana, en el Departamento Provincial de Genética, una encuesta a 100 gestantes atendidas en este servicio por Alfafetoproteína (AFP) elevada, con el objetivo de evaluar los aspectos organizativos y el impacto psicosocial de este programa de pesquisaje. Se concluye que debe mejorar la información que se ofrece a la gestante sobre la utilidad de la prueba (el 18 porciento no había recibido información por parte del médico), aunque el 93 pociento evaluó bien el pesquisaje (AU)

Diagnóstico prenatal ecocardiográfico de un feto con atresia pulmonar / Prenatal echocardiographic diagnosis of a fetus with pulmonary atresia

Se presenta un caso de una cardiopatía congénita grave en un feto de 22 semanas sin otra anomalia asociada, diagnosticado como una atresia pulmonar, y en el cual se interrumpe el embarazo con autorización familiar y en coordinación con los departamentos de Genética y Obstetricia. Al mismo tiempo se comenta el diagnóstico diferencial intraútero mediante ecocardiografía con pulso Doppler, en las cardiopatías que dilatan las cavidades cardíacas derechas y en particular una variante prenatal frecuente de la atresia pulmonar con ventrículo derecho muy dilatado e insuficiencia tricuspidea significativa