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OBJECTIVE: Abdominal Aortic Aneurysms (AAA) growth remains a process not fully understood. The objective of this study was to analyze risk factors associated with changes in AAA diameter in a Mexican cohort. METHODS: An observational study in which we analyzed the entirely of patients in which an AAA was reported in a Computed Tomography (CT) study from 2014 to 2021 who had a follow-up CT. We divided them by groups depending on the diagnosis of type 2 diabetic mellitus and pharmacological history (diabetic vs non-diabetic, metformin vs non-metformin intake and statin vs non-statin intake). We compared pre and post follow-up AAA diameters using paired t-tests. A multivariate analysis was performed in order to identify independent variables associated with an increased growth rate. Statistical analysis was performed on Stata 17. RESULTS: During the studied period 72 (39.77%) patients had a follow-up CT. Mean age was 75 years (±9.05) and 52 (72.22%) were men. When comparing infra-renal largest diameter through time based on metformin intake, a significant difference was found only in the metformin non-intake group (42.05 ± 12.54 vs45.34 ± 12.06 [P = 0.02]), in contrast the metformin intake group measures were non-significantly different (36.13 ± 7.04 vs 37.00 ± 4.51; P = 0.57) through follow-up. In the multivariate analysis AAA largest diameter at diagnosis correlated with significantly increased growth rate (coeff = 0.06, P < 0.05). CONCLUSIONS: AAA diameters appear to change through time in a non-linear pattern influenced by different epidemiological and clinical factors. Metformin intake appears to promote a stability in AAA diameter growth in our studied population.

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OBJECTIVE: Carotid body tumours (CBTs) and baroreceptor failure (BRF) are two distinct but interrelated conditions, affecting the carotid body and its regulatory mechanisms. We aim to describe and quantify BRF after unilateral and bilateral CBT resections. METHODS: Prospective cohort study. We included all patients with unilateral or bilateral CBT undergoing resection from April 2021 to January 2023. Demographics and CBTs characteristics were analysed; baroreceptor sensitivity assessment was conducted using the Composite Autonomic Severity Score (CASS). Statistical analyses were performed using R. Significance level was set at a 2-tailed α = 0.05. RESULTS: A total of 30 patients with CBT underwent surgical resection, twenty-three were included in the study (18 unilateral and 5 bilateral CBTs). All 23 (100 %) were females, median age of 60 years. Regarding patients with unilateral CBT; preoperatively, 13 had BRF, the most common dysfunction subtype was mixed. Postoperatively, the most common dysfunction subtype was sympathetic failure. With regards to bilateral CBTs; 2 patients did not have autonomic dysfunction preoperatively. After bilateral surgical resection one patient remained without autonomic dysfunction; however, all other patients persisted with BRF. CONCLUSION: BRF was present in 13 patients with unilateral CBT and 3 patients with bilateral tumours preoperatively; most will remain with BRF and will only change the characteristics postoperatively. No associations were found between type, severity of BRF and Shamblin classification or laterality. It is paramount that research in this area continues as many features are yet unknown regarding CBT pathogenesis, hence, BRF may be present yet not affect significantly quality of life.

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BACKGROUND: In Mexico, there is a paucity of evidence on mortality and hospitalization patterns associated with aortic aneurysms and dissections. OBJECTIVE: To analyze national databases and describe the epidemiological characteristics of different aortic pathologies. MATERIAL AND METHODS: Retrospective, cross-sectional, observational study, in which mortality and hospitalization attributed to aortic aneurysms and dissections were analyzed. Statistical analysis was performed on Stata 16. RESULTS: A total of 6,049 deaths were documented in the general population, which included 2,367 hospitalizations and 476 (20.1%) in-hospital deaths. In addition, a statistically significant age difference was found between mean age at death in the general population (69.5 years) and the in-hospital death group (64.1 years, p < 0.001). As for hospitalizations secondary to ruptured abdominal aortic aneurysms, 149 cases were identified, with a mean age of 65.6 years, out of whom 53 (35.5%) were under 65 years of age, with a mean age of 47.8 years. CONCLUSIONS: Epidemiological reports of aortic pathology in Mexico are scarce; therefore, implementation of screening and detection programs for aortic pathologies is necessary in order to address the disparities identified in this analysis.

ANTECEDENTES: Existe evidencia escasa en México respecto a la mortalidad y patrones del ingreso hospitalario asociados a aneurismas y disecciones aórticos. OBJETIVO: Analizar las bases de datos nacionales y describir las características epidemiológicas de diferentes patologías aórticas agudas. MATERIAL Y MÉTODOS: Estudio transversal y observacional de una base de datos retrospectiva, en el que se analizó la mortalidad y hospitalización atribuidas a aneurismas y disecciones aórticos. El análisis estadístico se realizó en Stata 16. RESULTADOS: Se documentaron 6049 muertes en la población general, 2367 hospitalizaciones y 476 muertes intrahospitalarias. Adicionalmente, se encontró una diferencia estadísticamente significativa entre las medias de edad de fallecimiento de la población general (65.5 años) y de los pacientes que murieron en el hospital (64.1 años), p < 0.001. En cuanto a las hospitalizaciones secundarias a aneurisma de aorta abdominal roto, 149 casos fueron evidenciados con una media de edad de 65.6 años; 53 (35.5 %) de estos tenía menos de 65 años, con una media de edad de 47.8 años. CONCLUSIONES: Los reportes epidemiológicos de patología aórtica en México son escasos, por ello la implementación de programas de tamizaje y la detección de patologías aórticas son necesarias para mejorar las disparidades encontradas en este análisis.

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INTRODUCTION: Carotid body tumors are rare neoplasms with malignant potential. We aim to follow up on our initial experience published in 2015 and compare the occurrence of complications and postoperative outcomes with the use of retrocarotid dissection (RCD) against the standard caudocranial (SCCD) technique. METHODS: This was an observational, case-control study in which we analyzed all of the carotid body tumor resections performed from 1986 to 2022. Parametric and nonparametric tests were used accordingly. Statistical analysis was performed on Stata 17. RESULTS: A total of 181 surgical procedures were included, mean age was 56 years (± 13.63), and 168 (93%) were performed in women. The mean medio-lateral diameter was larger in the RCD group (2.85 ± 1.57 cm vs 1.93 ±1.85 cm; p = 0.002) and presurgical embolization was more frequently performed in the SCCD group (27.5% vs 0.7%; p < 0.001). A total of 40 (22.09%) resections were performed using the SCCD technique. In contrast, in 141 (77.91%) procedures the RCD technique was used. The mean surgical time in the RCD group was lower (197.37 ± 70.56 min vs 232 ± 98.34 min; p = 0.01). No statistically significant difference was found between SCCD and RCD in terms of vascular lesions (n = 20 [11.04%], 15% vs 9%, respectively; p = 0.36), transient or permanent nerve injuries (25% vs 33%, respectively; p = 0.31), or mean intraoperative bleeding (SCCD: 689.95 ± 680.05 mL vs RCD: 619.64 ± 837.94 mL; p > 0.05). CONCLUSIONS: RCD appears to be a safe and equivalent alternative to the standard caudocranial approach in terms of intraoperative bleeding or vascular lesions, with a sustained, significant decrease in surgical time.

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BACKGROUND: Bilateral carotid body tumors (CBTs) clinical manifestation is infrequent. We conducted this work to describe our experience in the surgical treatment of bilateral CBT and to analyze our results. METHODS: A retrospective, observational study. We analyzed the totality of bilateral CBT resections that had been performed in our institution from January 2008 to September 2023. Data was obtained from medical records and anonymized, ethics approval was obtained from our institution committee. As the number of observations was less than those required by the central limit theorem our sample was considered nonparametric. Statistical analysis was performed on Stata 17. RESULTS: We evaluated 16 patients with a total of 32 CBT; surgical resection was performed in 28 cases (87.50%). Median age of the patients was 60 years (interquartile range [IQR] 46-64). Regarding the Shamblin classification, 9 CBTs (32.14%) were classified as Shamblin I, 11 (39.29%) as Shamblin II, and 8 (28.57%) as Shamblin III. The median Distance to the Base of the Skull (DTBOS) was 3.5 cm (IQR 2.7-5.1), and the median tumor volume was 11.25 cc (IQR 3.4-18.7). The median bleeding volume was 300 ml (IQR 200-500), and the median surgical time was 190 min (IQR 145-240). All surgeries were performed using the Retrocarotid Dissection technique. We documented 9 (32.14%) cases of nerve injuries, all of which were transitory. In the median regression a statistically significant association was found between DTBOS, Shamblin classification and tumor volume with intraoperative bleeding and length of stay. CONCLUSIONS: Surgical treatment remains safe and should be considered the gold standard for accurate histologic diagnosis. DTBOS and tumor volume, in addition to Shamblin classification, must be considered in preoperative planning to predict bleeding and hospital stay.

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Resumen Antecedentes: Existe evidencia escasa en México respecto a la mortalidad y patrones del ingreso hospitalario asociados a aneurismas y disecciones aórticos. Objetivo: Analizar las bases de datos nacionales y describir las características epidemiológicas de diferentes patologías aórticas agudas. Material y métodos: Estudio transversal y observacional de una base de datos retrospectiva, en el que se analizó la mortalidad y hospitalización atribuidas a aneurismas y disecciones aórticos. El análisis estadístico se realizó en Stata 16. Resultados: Se documentaron 6049 muertes en la población general, 2367 hospitalizaciones y 476 muertes intrahospitalarias. Adicionalmente, se encontró una diferencia estadísticamente significativa entre las medias de edad de fallecimiento de la población general (65.5 años) y de los pacientes que murieron en el hospital (64.1 años), p < 0.001. En cuanto a las hospitalizaciones secundarias a aneurisma de aorta abdominal roto, 149 casos fueron evidenciados con una media de edad de 65.6 años; 53 (35.5 %) de estos tenía menos de 65 años, con una media de edad de 47.8 años. Conclusiones: Los reportes epidemiológicos de patología aórtica en México son escasos, por ello la implementación de programas de tamizaje y la detección de patologías aórticas son necesarias para mejorar las disparidades encontradas en este análisis.

Abstract Background: In Mexico, there is a paucity of evidence on mortality and hospitalization patterns associated with aortic aneurysms and dissections. Objective: To analyze national databases and describe the epidemiological characteristics of different acute aortic pathologies. Material and methods: Retrospective, cross-sectional, observational study, in which mortality and hospitalization attributed to aortic aneurysms and dissections were analyzed. Statistical analysis was performed on Stata 16. Results: A total of 6,049 deaths were documented in the general population, which included 2,367 hospitalizations and 476 in-hospital deaths. In addition, a statistically significant difference was found between mean age at death in the general population (69.5 years) and the in-hospital death group (64.1 years), p < 0.001. As for hospitalizations secondary to ruptured abdominal aortic aneurysm, 149 cases were identified, with a mean age of 65.6 years, out of whom 53 (35.5 %) were under 65 years of age, with a mean age of 47.8 years. Conclusions: Epidemiological reports of aortic pathology in Mexico are scarce; therefore, implementation of screening and detection programs for aortic pathologies is necessary in order to address the disparities identified in this analysis.

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Development of fatigue management solutions is critical to U.S. Navy populations. This study explored the operational feasibility and acceptability of commercial wearable devices (Oura Ring and ReadiBand) in a warship environment with 845 Sailors across five ship cohorts during at-sea operations ranging from 10 to 31 days. Participants were required to wear both devices and check-in daily with research staff. Both devices functioned as designed in the environment and reliably collected sleep-wake data. Over 10,000 person-days at-sea, overall prevalence of Oura and ReadiBand use was 69% and 71%, respectively. Individual use rates were 71 ± 38% of days underway for Oura and 59 ± 34% for ReadiBand. Analysis of individual factors showed increasing device use and less device interference with age, and more men than women found the devices comfortable. This study provides initial support that commercial wearables can contribute to infrastructures for operational fatigue management in naval environments.

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OBJECTIVE: To review admissions, interventions and in-hospital mortality associated to Abdominal Aortic Aneurysms (AAA), and to analyze the impact of the introduction of a training program and imaging screening at our institution. METHODS: Retrospective study where hospitalizations, procedures and mortality secondary to AAA were recorded. The national databases (ND) from the Secretariat of Health were utilized from 2010 to 2020. In-hospital lethality was calculated and compared with the experience at the Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán (INCMNSZ). The statistical analysis was completed with the STATA version 17. RESULTS: According to the ND, 899 (91%) hospital admissions secondary to AAA occurred, while in the INCMNSZ 85 (9%). Most of them belonged to the male gender (68%); 811 (82%) patients underwent open surgical repair, and 173 (18%) to an endovascular exclusion (EVAR), the latter approach was significantly more frequently performed at our institution (p = 0.007). The 30-day hospital mortality was 22.5%; in the ND was 23.9 vs. a 16.4% in the INCMNSZ without significant difference (p = 0.1). CONCLUSIONS: AAA remain unrecognized in our country. The introduction of University programs and imaging screening might impact in the early detection, and to reduce the morbidity and mortality associated to emergency procedures.

OBJETIVO: Revisar los ingresos, procedimientos y defunciones intrahospitalarias asociadas a aneurismas aórticos abdominales (AAA) y analizar el impacto de la introducción de programas de formación de recursos humanos y tamizaje ultrasonográfico. MÉTODOS: Estudio retrospectivo, se analizaron las bases de datos nacionales obtenidas del portal datos abiertos de la Dirección General de Información en Salud (DGIS) del año 2010 al 2020. Se calculó la letalidad intrahospitalaria anual y comparamos la experiencia del Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán (INCMNSZ). El análisis estadístico se realizó en el programa STATA versión 17. RESULTADOS: De acuerdo con la base nacional (BN), se registraron 899 (91%) ingresos, mientras que en el INCMNSZ 85 (9%). La mayoría pertenecía al sexo masculino (68%), un total de 811 (82%) pacientes fueron sometidos a cirugía abierta, mientras que 173 (18%) a terapia endovascular (EVAR), siendo este abordaje más frecuente en nuestra institución (p = 0.007). La mortalidad intrahospitalaria fue del 22.5%, en la BN fue del 23.9%, mientras que en el INCMNSZ fue del 16.4%, sin que encontráramos diferencia significativa (p = 0.1). CONCLUSIONES: Los AAA continúan siendo poco reconocidos en nuestro país. La introducción de programas universitarios de especialidad y el tamizaje podría impactar en la reducción de la morbimortalidad.

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This paper presents an automated Non-Destructive Testing (NDT) system for the in-service inspection of orbital welds on tubular components operating at temperatures as high as 200 °C. The combination of two different NDT methods and respective inspection systems is here proposed to cover the detection of all potential defective weld conditions. The proposed NDT system combines ultrasounds and Eddy current techniques with dedicated approaches for dealing with high temperature conditions. Phased array ultrasound was employed, searching for volumetric defects within the weld bead volume while Eddy currents were used to look for surface and sub-surface cracks. The results from the phased array ultrasound results showed the effectiveness of the cooling mechanisms and that temperature effects on sound attenuation can be easily compensated for up to 200 °C. The Eddy current results showed almost no influence when temperatures were raised up to 300 °C.

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This work presents a new eddy current testing array probe and readout electronics that target the layer-wise quality control in powder bed fusion metal additive manufacturing. The proposed design approach brings important benefits to the sensors' number scalability, exploring alternative sensor elements and minimalist signal generation and demodulation. Small-sized, commercially available surface-mounted technology coils were evaluated as an alternative to usually employed magneto-resistive sensors, demonstrating low cost, design flexibility, and easy integration with the readout electronics. Strategies to minimize the readout electronics were proposed, considering the specific characteristics of the sensors' signals. An adjustable single phase coherent demodulation scheme is proposed as an alternative to traditional in-phase and quadrature demodulation provided that the signals under measurement showed minimal phase variations. A simplified amplification and demodulation frontend using discrete components was employed together with offset removal, vector amplification, and digitalization implemented within the microcontrollers' advanced mixed signal peripherals. An array probe with 16 sensor coils and a 5 mm pitch was materialized together with non-multiplexed digital readout electronics, allowing for a sensor frequency of up to 1.5 MHz and digitalization with 12 bits resolution, as well as a 10 kHz sampling rate.

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OBJECTIVES: Retroperitoneal tumor resection commonly disturbs major vessels; therefore, surgical teams can recruit vascular surgeons to prevent injuries and improve the prognosis of oncologic patients. The objective of the present study is to establish long-term survival after retroperitoneal tumor resection surgery with an emphasis on the potential impact of preventing or repairing major vessel injuries when tumors are adjacent to the aorta or vena cava. METHODS: Retrospective case series including all cases of surgical removal of retroperitoneal tumors between 2007 and 2020 in a highly specialized hospital in Mexico City. Long-term survival was defined as 5 years after surgical intervention. Descriptive statistics, group-comparison tests, and regression analysis were performed using Stata 16. RESULTS: From a total of 70 cases, vascular injury occurred in 30 (42.8%) and the vascular surgeon intervened in 19 (27.1%) of them, 4 (21%) were performed by a vascular surgeon with planned intervention, and in 9 (47.3%) cases the vascular surgeon was called to join the surgery due to emergency. Intraoperative bleeding was 2-fold greater in the group with an emergent participation of vascular surgery in contrast with the planned intervention group (4, 235 mL vs 2, 035 mL, p = 0.04). The regression model revealed a significant association between the intervention of a vascular surgeon and long-term survival (OR 59.3, p = 0.03) after adjusting for sociodemographic and characteristics of oncologic nature. CONCLUSIONS: Planned intervention of vascular surgeons in retroperitoneal tumor resection may have a positive impact not only in trans-operatory period, but also on long-term survival.

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Objetivo: Explorar las tendencias del sobrepeso y la obesidad infantil según la posición socioeconómica y en relación con el esfuerzo preventivo desarrollado por las comunidades autónomas. Método: Se trata de una serie de estudios transversales multinivel a partir de la información ofrecida por distintas olas de la Encuesta Nacional de Salud, específicamente las de 2003, 2006, 2011 y 2017. Se estimaron modelos de regresión logística jerárquica, con los individuos (nivel 1) anidados en la comunidad autónoma-periodo de estudio (nivel 2) y estos, a su vez, en las comunidades autónomas (nivel 3). Las principales variables independientes fueron el esfuerzo medio realizado por las comunidades autónomas en políticas de prevención del sobrepeso/obesidad infantil y el cambio en el esfuerzo en dichas políticas a lo largo de los periodos estudiados. Resultados: La probabilidad de obesidad o sobrepeso infantil se incrementa sustancialmente si el adulto entrevistado en el hogar también presenta obesidad o sobrepeso. El efecto conjunto de las políticas implementadas por las comunidades autónomas se asocia con una disminución significativa de la prevalencia solo para la población infantil que pertenece a clases sociales altas y medias (odds ratio[OR]: 0,89, intervalo de confianza del 95% [IC95%]: 0,82-0,96, y OR: 0,93, IC95%: 0,88-0,97, respectivamente). Conclusiones: Las políticas implementadas por las comunidades autónomas parecen tener una capacidad limitada para conseguir reducciones significativas de la prevalencia de sobrepeso y de obesidad infantil. Los resultados sugieren que serían los grupos de clase media y alta los que parecen obtener mayores beneficios de estas políticas, lo cual podría contribuir indirectamente a aumentar las desigualdades en la obesidad infantil. (AU)

Objective: To explore trends in childhood overweight/obesity according to socio-economic status and in relation to the preventive effort developed by the Spanish autonomous regions. Method: A series of multilevel cross-sectional studies were conducted using data from different waves of the Spanish National Health Survey, namely 2003, 2006, 2011 and 2017. Hierarchical logistic regression models were estimated, with individuals (level 1) nested within the region-period of study (level 2) and these, in turn, within the region (level 3). The main independent variables were the average effort made by the Spanish autonomous regions in child overweight-obesity prevention policies and the change in the effort made in these policies over the periods studied. Results: The likelihood of obesity and/or overweight increases substantially if the adult respondent in the household is also obese or overweight. The joint effect of the policies implemented by the autonomous regions is associated with a significant decrease in prevalence only for children belonging to high and middle social classes (odds ratio [OR]: 0.89, 95% confidence interval [95%CI]: 0.82-0.96, and OR: 0.93, 95%CI: 0.88-0.97, respectively). Conclusions: The policies implemented by the Spanish autonomous regions seem to have a limited capacity to achieve significant reductions in the prevalence of childhood overweight and obesity. The results suggest that it is the middle and upper-middle class groups that seem to benefit most from these policies, which could indirectly contribute to increasing inequalities in childhood obesity. (AU)

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OBJECTIVE: To explore trends in childhood overweight/obesity according to socio-economic status and in relation to the preventive effort developed by the Spanish autonomous regions. METHOD: A series of multilevel cross-sectional studies were conducted using data from different waves of the Spanish National Health Survey, namely 2003, 2006, 2011 and 2017. Hierarchical logistic regression models were estimated, with individuals (level 1) nested within the region-period of study (level 2) and these, in turn, within the region (level 3). The main independent variables were the average effort made by the Spanish autonomous regions in child overweight-obesity prevention policies and the change in the effort made in these policies over the periods studied. RESULTS: The likelihood of obesity and/or overweight increases substantially if the adult respondent in the household is also obese or overweight. The joint effect of the policies implemented by the autonomous regions is associated with a significant decrease in prevalence only for children belonging to high and middle social classes (odds ratio [OR]: 0.89, 95% confidence interval [95%CI]: 0.82-0.96, and OR: 0.93, 95%CI: 0.88-0.97, respectively). CONCLUSIONS: The policies implemented by the Spanish autonomous regions seem to have a limited capacity to achieve significant reductions in the prevalence of childhood overweight and obesity. The results suggest that it is the middle and upper-middle class groups that seem to benefit most from these policies, which could indirectly contribute to increasing inequalities in childhood obesity.

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Automobile laser brazing remains a complex process whose results are affected by several process variables that may result in nonacceptable welds. A multisensory customized inspection system is proposed, with two distinct non-destructive techniques: the potential drop method and eddy current testing. New probes were designed, simulated, produced, and experimentally validated in automobile's laser-brazed weld beads with artificially introduced defects. The numerical simulations allowed the development of a new four-point probe configuration in a non-conventional orthogonal shape demonstrating a superior performance in both simulation and experimental validation. The dedicated inspection system allowed the detection of porosities, cracks, and lack of bonding defects, demonstrating the redundancy and complementarity these two techniques provide.

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Coagulation abnormalities have been reported in COVID-19 patients, which may lead to an increased risk of Pulmonary Embolism (PE). We aimed to describe the clinical characteristics and outcomes of COVID-19 patients diagnosed with PE during their hospital stay. We analyzed patients with PE and COVID-19 in a tertiary center in Mexico City from April to October of 2020. A total of 26 (100%) patients were diagnosed with Pulmonary Embolism and COVID-19. We observed that 14 (54%) patients were receiving either prophylactic or full anticoagulation therapy, before PE diagnosis. We found a significant difference in mortality between the group with less than 7 days (83%) and the group with more than 7 days (15%) in Intensive Care Unit (P = .004); as well as a mean of 8 days for the mortality group compared with 20 days of hospitalization in the survivor group (P = .003). In conclusion, there is an urgent need to review antithrombotic therapy in these patients in order to improve clinical outcomes and decrease hospital overload.

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Introduction: Neurodevelopmental disorders (NDD) are featured by a delay in the acquisition of motor functions, cognitive abilities and speech, or combined deficits in these areas with the onset before the age of 5 years. Genetic causes account for approximately a half of all NDD cases. Objective: to describe alterations of the genome implied in neurodevelopmental disorders and some aspects of their genetic counseling. Methods: Bibliographic search in Medline, Pubmed, Scielo, LILACS and Cochrane, emphasizing in the last five years, the relationship between the various genetic factors that may be involved in neurodevelopmental disorders. Results: Multiple genetic factors are involved in neurodevelopmental disorders, from gross ones such as chromosomal aneuploidies to more subtle ones such as variations in the number of copies in the genome. Special emphasis is placed on microdeletion-micro duplication syndromes as a relatively frequent cause of NDDs and their probable mechanisms of formation are explained. Final Considerations: Genetic aberrations are found in at least 30-50 percent of children with NDD. Conventional karyotyping allows the detection of chromosomal aberrations encompassing more than 5-7 Mb, which represent 5-10 percent of causative genome rearrangements in NDD. Molecular karyotyping (e.g. SNP array/array CGH) can significantly improve the yield in patients with NDD and congenital malformations(AU)

Introducción: Los trastornos del neurodesarrollo están caracterizados por retardo en la adquisición de las funciones motoras, habilidades cognitivas para el habla o el déficit combinado en estas áreas; se presenta en niños menores de 5 años de edad. Las causas genéticas están implicadas en más de la mitad de los pacientes con estos trastornos Objetivo: Examinar las alteraciones del genoma implicados en los trastornos del neurodesarrollo y algunos aspectos de su asesoramiento genético. Métodos: Búsqueda bibliográfica en Medline, Pubmed, Scielo, LILACS y Cochrane con énfasis en los últimos cinco años, acerca de la relación entre los variados factores genéticos que pueden estar involucrados en los trastornos del neurodesarrollo. Resultados: Los factores genéticos involucrados pueden ser groseros como las aneuploidías cromosómicas hasta los más sutiles como las variaciones en el número de copias en el genoma. Se describen los síndromes de microdeleción-micro duplicación como una causa relativamente frecuente de los trastornos del neurodesarrollo y se explican sus probables mecanismos de formación. Se relacionan las aneuploidías cromosómicas y las variaciones en el número de copia como causas de estos trastornos. Consideraciones finales . Las aberraciones genéticas se encuentran en 30-50 por ciento de los niños con trastornos del neurodesarrollo. El cariotipo convencional permite la detección de aberraciones cromosómicas que abarcan más de 5-7 Mb, lo que representa 5-10 por ciento de los reordenamientos genómicos causales en estos trastornos. El cariotipo molecular (por ejemplo, una matriz de SNP/ CGH de matriz) puede mejorar significativamente la certeza del diagnóstico en pacientes con trastornos del neurodesarrollo y malformaciones congénitas(AU)

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Introducción: El diagnóstico prenatal mediante la hibridación fluorescente in situ disminuye el tiempo de diagnóstico al no ser necesario el cultivo celular. Objetivo: Describir las características y experiencias del diagnóstico prenatal por hibridación fluorescente in situ en Cuba. Método: En amniocitos in situ se aplicaron sondas CEP y LSI para la detección de aneuploidías de los cromosomas 21,18,13, X y Y y sondas LSI para la detección de deleciones asociadas a síndromes de microdeleción. Resultados: Se remitieron al Centro Nacional de Genética Médica 629 casos de alto riesgo genético. Prevaleció la indicación de alteraciones fetales detectadas por ecografía. En 612 (97 por ciento) casos se obtuvo un diagnóstico satisfactorio, entre ellos, 50 (8,1 por ciento) casos positivos, con predominio del síndrome Down en 26 casos. Se corroboraron por citogenética convencional 312 casos con 98 por ciento de concordancia con los resultados obtenidos por hibridación fluorescente in situ. Se utilizó el líquido amniótico refrigerado para corroborar casos de diagnóstico dudoso obtenido por citogenética y se detectaron 3 fetos con mosaicos cromosómicos, el origen de un cromosoma marcador y la definición del sexo fetal en un caso. Conclusiones: Con la tecnología por hibridación fluorescente in situ el diagnóstico prenatal logra una segura opción de análisis en aquellos casos de embarazos de alto riesgo genético. Debido a limitaciones tecnológicas, la prueba por hibridación fluorescente in situ en células amnióticas en interfase, se ha adaptado a nuestras condiciones, para lograr siempre un diagnóstico seguro con el menor perjuicio posible a la embarazada, el feto y su familia(AU)

Introduction: Prenatal diagnosis by fluorescent in situ hybridization decreases the time of diagnosis not being necessary the cell culture. Objective: To describe the characteristics and experiences of prenatal diagnosis by fluorescent in situ hybridization in Cuba. Method: In in situ amniocytes CEP catheters were applied and LSI for the detection of aneuploidies of the 21,18,13, X and Y chromosomes, and LSI catheters for the detection of deletions associated with microdeletion syndromes. Results: 629 cases of high genetic risk were referred to the National Center of Medical Genetics. There was a prevalence of the indication of fetal abnormalities detected by ultrasound. In 612 (97 percent) cases the diagnosis was achieved in a satisfactory form, among them 50 (8.1 percent) positive cases, with predominance of Down syndrome in 26 cases. There were corroborated 312 cases by conventional cytogenetics with 98 percent of agreement with the results obtained by fluorescent in situ hybridization. It was used the cooled amniotic fluid to corroborate cases of uncertain diagnosis obtained by cytogenetics and there were detected 3 fetuses with chromosomal mosaics, the origin of a marker chromosome and the definition of fetal sex in one case. Conclusions: With the technology by fluorescent in situ hybridization, the prenatal diagnosis achieved a safe analysis option in cases of genetic high-risk pregnancies. Due to technological limitations, the test by fluorescent in situ hybridization in amniotic cells in interphase has adapted to the conditions in order to always achieve a safe diagnosis with the less possible damage to the pregnant women, the fetus and its family(AU)

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El amplio espectro de aberraciones cromosómicas observable en los trastornos del neurodesarrollo no siempre puede ser caracterizado por análisis cromosómico. El objetivo del trabajo fue determinar la etiología genética de estos trastornos en pacientes con afecciones neurológicas congénitas y sospecha clínica de un síndrome genético, aplicando un algoritmo de estudio clínico-molecular. En 71 de 111 niños analizados, se hallaron aberraciones submicroscópicas asociadas a síndromes de microdeleción-microduplicación: DiGeorge (22 casos), Prader-Willi (26 casos), Angelman (2 casos), Williams-Beuren (17 casos), Smith-Magenis (1 caso), Miller-Dieker (1 caso) y síndrome cri du chat (1 caso). Adicionalmente, se detectó una inserción desbalanceada de novo de la región 17p12p11.2, en el punto 5p13.1, en un niño de tres años. La utilización del método clínico unido a técnicas moleculares, como hibridación fluorescente in situ, ha permitido, en la mayoría de los casos, el diagnóstico certero de pacientes y/o familias con trastornos del neurodesarrollo.

The wide range of chromosome aberrations seen in neurodevelopmental disorders may not always be characterized by means of a chromosome analysis. The objective of this study was to determine the genetic etiology of these disorders in patients with congenital neurological conditions and clinical suspicion of a genetic disorder using a clinical and molecular testing algorithm. Among 111 studied children, 71 showed submicroscopic chromosome aberrations associated with microdeletion/microduplication syndromes: DiGeorge (22 cases), Prader-Willi (26 cases), Angelman (2 cases), Williams-Beuren (17 cases), Smith-Magenis (1 case), Miller-Dieker (1 case), and cri du chat syndrome (1 case). Additionally, a de novo trisomy 17p12p11.2 due to an unbalanced insertion into 5p13.1 was identified in a 3-year-old child. In most cases, the use of a clinical method together with molecular techniques, such as fluorescence in situ hybridization, has allowed to make an accurate diagnosis in patients and/or families with neurodevelopmental disorders.

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