Clinical, Phenotypic, and Demographic Characteristics of Peruvian Children and Neonates with Autosomal and Sex Chromosome Aneuploidies.

OBJECTIVE: Autosomal and sex chromosome aneuploidies are associated with multiple risk factors that determine their frequency and their social and health impact. We aimed to determine the clinical, phenotypic, and demographic characteristics of Peruvian children and neonates with autosomal and sex chromosome aneuploidies. MATERIALS AND METHODS: This was a retrospective study conducted on 510 pediatric patients. We conducted a cytogenetic analysis with G-bands by trypsin using Giemsa (GTG) banding, and the results were reported using the International System for Cytogenetics Nomenclature 2013 system. RESULTS: Of 399 children (mean age 2.1 ± 4 years), 84 (16.47%) had aneuploidies, with 86.90% being autosomal (73.81% trisomies). In autosomal aneuploidies, 67.85% (n = 57) of the children had Down syndrome where the most common cause was free trisomy 21 (52 cases, 61.91%), followed by Robertsonian translocation (4 cases, 4.76%). Edwards and Patau syndrome affected 4 (4.76%) and 1 (1.19%) neonate. The most frequent phenotypic characteristics in children with Down syndrome were Down syndrome-like facies (45.61%) and macroglossia (19.29%). Of sex chromosome aneuploidies, 6/7 were abnormalities of the X chromosome (mainly 45,X). Neonate's age (19 ± 44.9 months), paternal age (49 ± 9 years), height (93.4 ± 176 cm), and gestational age (30 ± 15.4 weeks) were significantly correlated with the presence of sex chromosome and autosomal aneuploidies (P < .001; P = .025; and P = .001). CONCLUSIONS: Down syndrome and Turner's syndrome were the most frequent aneuploidy and sex chromosome aneuploidy, respectively. In addition, some of the clinical, phenotypic, and demographic characteristics, such as newborn's age, paternal age, gestational age, and height, were significantly correlated with the occurrence of aneuploidy. In this sense, these characteristics could be considered risk factors among this population.

Alteraciones citogenéticas en pacientes con diagnóstico de infertilidad en Lima, Perú / Cytogenetic abnormalities in patients with infertility diagnosis in Lima, Peru

INTRODUCCIÓN: La infertilidad es una enfermedad multicausal y el componente genético representa uno de sus principales eventos. Si bien la distribución de la infertilidad puede variar entre poblaciones, las parejas de los países con bajos y medianos ingresos pueden verse más afectadas por la infertilidad, con una proporción de alteraciones citogenéticas aún no esclarecidas. OBJETIVO: Evaluar la frecuencia de alteraciones citogenéticas y su correlación con el número de abortos en pacientes peruanas con diagnóstico de infertilidad. MÉTODO: Se realizó un estudio de corte transversal en 400 pacientes de 18 a 60 años, de ambos sexos, con diagnóstico de infertilidad. Se registraron las características clínicas disponibles durante el examen genético y el análisis citogenético convencional fue con bandeo GTG en muestras de sangre periférica. El análisis de correlación se realizó con la prueba de Spearman. RESULTADOS: Del total, 389 pacientes cumplieron los criterios de inclusión, y de estos, 169 (43,44%) tuvieron reportes de abortos (promedio: 2,25, rango: 1-7). Hallamos una correlación significativa ente el número de abortos y las alteraciones citogenéticas (p < 0,000). Reportamos 25/289 (6,43%) alteraciones cromosómicas, de las que 11/25 (44%) fueron heterocromatinas constitutivas y 6/25 (24%) fueron translocaciones reciprocas. Las alteraciones citogenéticas más frecuentes fueron 16qh+ y 9qh+ (ambas con un 16%), y afectaron a 17 (68%) varones. CONCLUSIONES: Existe una moderada frecuencia de alteraciones citogenéticas en pacientes peruanos con diagnóstico de infertilidad, y las alteraciones más frecuentes fueron heterocromatina constitutivas. Además, evidenciamos una correlación significativa ente el número de abortos y las alteraciones citogenéticas.

INTRODUCTION: Infertility is a multicausal disease and the genetic component represents one of its main events. Although the distribution of infertility may vary between populations, couples in low-and-middle-income countries may be more affected by infertility with a proportion of cytogenetic alterations still unclear. OBJECTIVE: To evaluate the frequency of cytogenetic alterations and their correlation with the number of abortions in Peruvian patients with a diagnosis of infertility. METHOD: A cross-sectional study was carried out in 400 patients between 18 and 60 years-old, of both genders with a diagnosis of infertility. The clinical characteristics available during the genetic examination were recorded and the conventional cytogenetic analysis was with GTG banding in peripheral blood samples. The correlation analysis was performed with the Spearman test. RESULTS: Of the total 389 patients who met the inclusion criteria, of these 169 (43.44%) patients had reports of abortions (mean: 2.25, range: 1-7). We found a significant correlation between the number of abortions and cytogenetic alterations (p < 0.000). We report 25/289 (6.43%) chromosomal alterations, where 11/25 (44%) were constitutive heterochromatin, and 6/25 (24%) were reciprocal translocations. The most frequent cytogenetic alterations were 16qh + and 9qh + (both 16%), and affected 17 (68%) men. CONCLUSIONS: There is a moderate frequency of cytogenetic alterations in Peruvian patients diagnosed with infertility, where the most frequent alterations were constitutive heterochromatin. Furthermore, we evidenced a significant correlation between the number of abortions and cytogenetic alterations.

Transcatheter aortic valve replacement with the balloon-expandable SAPIEN 3 valve: Impact of calcium score on valve performance and clinical outcomes.

BACKGROUND: Aortic valve calcification severity has been associated with higher rates of aortic regurgitation (AR) following TAVR, but scarce data exist on its impact with the use of newer generation transcatheter heart valves. METHODS: This was a multicenter study including 626 patients with severe aortic stenosis who underwent TAVR with the SAPIEN 3 valve. Patients were divided in 2 groups according to the median index calcium score (iCS) for each sex: high CS (HCS, iCS ≥ median), and low iCS (LCS, iCS < median). Another analysis was performed in those patients with extreme iCS (ECS, iCS >75th percentile for each sex). Clinical and echocardiographic data were collected prospectively in a dedicated database. RESULTS: The mean CS was 3758 ±â€¯1417 AU and 1616 ±â€¯691 AU in the HCS and LCS groups, respectively (p < 0.001). There were no differences between groups in 30-day mortality (HCS:2.6%, LCS:1.0%, p = 0.13) and stroke (HCS:2.6%,LCS:2.6%, p = 1.0) rates, but all cases (n = 5) of annulus rupture occurred in the HCS group (1.6% vs. 0%, p = 0.061). The incidence of moderate-severe AR post-TAVR was low in both groups (HCS:1.6%,LCS:1.6%, p = 1.0), and valve gradient and area were similar between groups. The results remained similar in the ECS group (mean CS:4607 ±â€¯1424 AU), but a mildly increased mean transvalvular gradient post-TAVR was observed in ECS patients (12.1 ±â€¯5.6 vs 11.0 ±â€¯4.3 mmHg; p = 0.015). CONCLUSION: Aortic valve calcification severity failed to impact mortality/stroke rates following TAVR with the SAPIEN 3 valve. Low rates of significant AR were observed irrespective of CS, and a mild increase in transvalvular gradient was observed in ECS patients.

Sex Differences in Long-Term Outcomes in Patients With Deferred Revascularization Following Fractional Flow Reserve Assessment: International Collaboration Registry of Comprehensive Physiologic Evaluation.

Background Sex-specific differences may influence prognosis after deferred revascularization following fractional flow reserve (FFR) measurement. This study sought to investigate the sex differences in long-term prognosis of patients with deferred revascularization following FFR assessment. Methods and Results A total of 879 patients (879 vessels) with deferred revascularization with FFR >0.75 who underwent FFR and coronary flow reserve measurements were enrolled from 3 countries (Korea, Japan, and Spain). Long-term outcomes were assessed in 649 men and 230 women by the patient-oriented composite outcome (POCO, a composite of any death, any myocardial infarction, and any revascularization). We applied inverse-probability weighting based on propensity scores to account for differences at baseline between women and men (age, hyperlipidemia, diabetes mellitus, diameter stenosis, lesion length, multivessel disease, FFR, coronary flow reserve. The median follow-up duration was 1855 days (745-1855 days). Median FFR values were 0.88 (0.83-0.93) in men and 0.89 (0.85-0.94) in women, respectively. The occurrences of POCO were significantly high in men compared with that in women (10.5% versus 4.2%, P=0.007). Kaplan-Meier analysis revealed that women had a significantly lower risk of POCO (χ2=7.2, P=0.007). Multivariate COX proportional hazards regression analysis revealed that age, male, diabetes mellitus, diameter stenosis, lesion length, and coronary flow reserve were independent predictors of POCO. After applying IPW, the hazard ratio of males for POCO was 2.07 (95% CI, 1.07-4.04, P=0.032). Conclusions This large multinational study reveals that long-term outcome differs between women and men in favor of women after FFR-guided revascularization deferral. Clinical Trial Registration URL: http://www.ClinicalTrials.gov. Unique identifier: NCT02186093.

Safety of intravitreal quinupristin/dalfopristin in an animal model.

AIM: To determine whether different intravitreal doses of quinupristin/dalfopristin lead to electroretinographic or histological changes in the rabbit retina over one month period after injection. METHODS: Eighteen New Zealand white rabbits were divided into three treatment groups (groups 1 to 3) and different intravitreal doses of quinupristin/dalfopristin were tested in each group. The right eye was injected with the drug and the left eye received intravitreal injection of 5% dextrose water and served as control eye. The doses delivered to each group were 0.1 mg/0.1 mL, 1 mg/0.1 mL and 10 mg/0.1 mL. Simultaneous, bilateral, dark-adapted electroretinography and clinical images of both eyes were obtained in all groups before injection (baseline) and after 7, 14, 21 and 28d, followed by enucleation for histological examination. RESULTS: Subjects in the group 1 showed no signs of toxicity in the electroretinogram when compared with groups 2 and 3 (Kruskall-Wallis test, P=0.000). By day 7, no electrical response to light stimuli was recorded in the treated eyes in groups 2 and 3, consistent with severe damage due to retinal toxicity. Light microscopy revealed no significant histopathological changes in the group 1, while rabbits in groups 2 and 3 had signs of granulomatous inflammation in most cases. CONCLUSION: Intravitreal 0.1 mg/0.1 mL doses of quinupristin/dalfopristin do not lead to electroretinographic or histological signs of retinal toxicity compared with 1 mg/0.1 mL and 10 mg/0.1 mL in this rabbit model.

Comparison of iridocorneal angle in infants with retinopathy of prematurity and healthy infants using spectral domain optical coherence tomography.

PURPOSE: To compare measurements and morphologic characteristics of the iridocorneal angle in preterm infants with retinopathy of prematurity (ROP) and healthy infants using spectral domain optical coherence tomography (SD-OCT). METHODS: In this observational, case-control study, the eyes of children with ROP and healthy controls under 1 year old were imaged using SD-OCT without sedation to capture the iridocorneal angle. The ROP staging was made by a pediatric retinal specialist. The following measurements were analyzed with custom software: angle opening distance (AOD500) at 500 µm; angle opening in degrees (AOG); and angle recess area (ARA750). RESULTS: A total of 27 eyes of 14 children with ROP and 21 of 13 children without ROP were included. The mean gestational age of children in the ROP group was 30 weeks; of the controls, 35 weeks. The mean birth weight in the ROP group was 1,545 g; in the non-ROP group 2,100 g. Mean age at the time of the study was 18.1 (ROP group) vs 25.7 weeks (non-ROP). In the ROP group AOD500 was 477 µm (95% CI, 358-597 µm), AOG was 37.3° (95% CI, 30.4°-44.3°), and ARA750 was 231 mm(2) (CI 95%, 171-291 mm(2)). The same parameters on the non-ROP group were 400 µm (CI 95% 333-468 µm), 34.7° (CI 95% 30.4°-39°), and 203 mm(2) (95% CI, 171-236 mm(2)). The iris showed a more convex pattern on eyes with ROP (56% vs 23%). CONCLUSIONS: In this study cohort, children with ROP showed higher AOD500, AOG, and ARA750, perhaps because of different patterns of physiological development in children with ROP.

Impacto de la implementación de medidas de gestión hospitalaria para aumentar la eficiencia en la gestión de camas y disminuir la saturación del servicio de urgencias / Impact of hospital management measures on improving the efficiency of bed allocation and reducing emergency department overcrowding

Objetivo: Analizar el impacto de la implementación de medidas para reducir el número de pacientes ubicados en urgencias en es pera de cama de hospitalización. Método: Tipo de estudio: comparativo con un análisis retrospectivo. Se compararon dos periodos: periodo 1 (nov 06-oct 07) y periodo 2 (nov 07-oct 08). Ámbito: Hospitalde Sant Boi, hospital general de 126 camas, en Sant Boi de Llobregat (Barcelona). Medidas implementadas: disminución de la estancia prequirúrgica, incremento de la cirugía mayor ambulatoria (CMA) y potenciación del ingreso en una unidad de corta estancia médica (UCE). Variables estudiadas: admisiones en el SUH, ingresos hospitalarios, ingresos de CMA, el número de días en que hay al menos 1 paciente pendiente de cama hospitalaria en el SUH a las 8:00 horas, estancia promedio hospitalaria, actividad y estancia promedio en la UCE. Resultados: El total de admisiones en el SUH fue de 57.140 en el periodo 1, y 71.280 en el periodo 2, con 4.840 (8,4%) y 5.385 (7,5%) ingresos, respectivamente. La estancia media de hospitalización disminuyó de 5,2 días a 4,5 días (p < 0,001). En 86 días del periodo 1, uno o más pacientes permanecían en el SUH pendientes de cama (307 pacientes/año), frente a 11 días en el período 2 (26 pacientes/año). Conclusiones: En nuestra experiencia, las medidas de gestión aplicadas fueron eficaces en la disminución del número de pacientes pendientes de cama en urgencias (AU)

Objective: To analyze the impact of hospital management measures to reduce the number of patients held in an emergency department while awaiting admission. Methods: Type of study: retrospective, comparing 2 periods, November 2006 to October 2007 and November 2007 to October 2008. Setting: Hospital de Sant Boi, a 126-bed general hospital in Sant Boi de Llobregat in the province of Barcelona. Management measures: decreased presurgical stay, increased use of ambulatory surgical procedures, and increased use of a medical short-stay unit. Variables studied: emergency department admissions, hospital ward admissions, admissions for ambulatory surgical procedures, number of days in which at least 1 patient was in the emergency department at 8 A.M. while waiting for a bed, mean hospital stay, and admissions and average time spent in the short-stay unit. Results: A total of 57140 patients were admitted to the emergency department in the first period and 71280 in the second period; 4840 (8.4%) were admitted to hospital in the first period and 5385 (7.5%) in the second. The average length of stay was 5.19 days in the first period and 4.54 days in the second (P<.001). At least 1 patient was waiting in the emergency department for a hospital bed to become available on 86 days in the first period (307 patients/year) and11 days in the second period (26 patients/year). Conclusions: The management measures applied in this case were effective in reducing the number of patients held in the emergency department while waiting for admission (AU)

Esquistosomiasis urinaria: presentación de un paciente / Urinary schistosomiasis: a case report

Se presenta, en la Provincia de Villa Clara, un paciente diagnosticado de esquistosomiasis urinaria producida por schistosoma haematobium en un estudiante de 19 años de edad procedente de la República Sudafricana. Se realiza una revisión detallada de la enfermedad; fue tratado en el Servicio de Urología del Hospital Provincial Universitario Arnaldo Milián Castro de Santa Clara previa coordinación con el Centro Provincial de Higiene y Epidemiología. El tratamiento utilizado fue el praziquantel, la evolución del paciente fue hacia la curación de su enfermedad y se mantiene con seguimiento en consulta externa del Servicio de Urología para prevenir o detectar a tiempo la aparición de recidivas, neoplasias vesicales, o ambas(AU)

Pathogenesis of polycystic ovary syndrome: what is the role of obesity?

Both obesity and the polycystic ovary syndrome (PCOS) are commonly seen in women of reproductive age. Fifty percent of all patients with PCOS are obese, and the presence of obesity affects the clinical manifestations of PCOS. The underlying pathogenetic mechanisms appear to involve insulin resistance and hyperinsulinemia, the magnitude of which is greater in obese than in non-obese women with PCOS. Specific effects of obesity on the manifestations of PCOS, underlying mechanisms of the interactions between obesity and PCOS, and therapeutic implications of these interactions are discussed in this article.

Parotiditis bacteriana aguda por Staphylococcus aureus resistente a meticilina en ancianos institucionalizados / Acute bacterial parotiditis due to methicillin-resistant Staphylococcus aureus in the institutionalized elderly

No disponible

Campesinas frente a la pobreza: condiciones de vida de las familias organizadas de la Cordillera / Peasants opposite to the poverty: conditions of life of the families organized of the mountain chair

Trata el tema de la condición de vida de las mujeres del área rural del Paraguay, específicamente en el Departamento de la Cordillera, el documento tiene como objetivo conocer el transcurrir de la vida dentro de las limitaciones y obstáculos que ofrece el campo, las condciones de vivienda, educación, trabajo, salud

Estudio del diseño y operación de una planta de tratamiento primario con adición de reactivos químicos, que trata aguas residuales domésticas

En este trabajo se presentó el diseño y operación de una Planta de tratamiento cuyo tren consta de un pretratamiento (desarenador), coagulación-floculación, sedimentación, cloración y tratamiento de lodos.Se realizaron monitoreos intensivos durante una semana, siendo los objetivos de este trabajo el de analizar y evaluar cada unidad de proceso del sistema de tratamiento, probar reactivos químicos que mejoren la eficiencia de la Planta, las conclusiones llevaron a recomendar algunas modificaciones

Proyecto Yacupaj; Análisis de dos años de experiencias de los proyectos demostrativos

El Proyecto YACUPAC, Proyecto de Saneamiento Básico para las Poblaciones Dispersas del Departamento de Potosí, surgío por iniciativa del Programa PNUD/Banco Mundial de Agua y Saneamiento en base a su experiencia en 35 países en vías de desarrollo. El Programa tiene el objetivo de incrementar la capacidad de los países para abastecer agua y saneamiento de bajo costo y en base a enfoques comunitarios a los grupos de bajos ingresos principalmente. El objetivo del presente informe es documentar las experiencias de campo de los proyectos demostrativos del Proyecto después de dos años de ejecución. Este documento contiene una descripción general de los cinco objetivos del Proyecto con un enfoque más específico en la explicación y análisis de la estrategia de los proyectos demostrativos, así como en las lecciones aprendidas hasta la fecha

Quistes congénitos no parasitarios del hígado: informe de dos pacientes / Non parasitic congenital hepatic cysts: report of 2 cases

Los quistes hepáticos no parasitarios son de presentación poco frecuente como lo demuestran tanto la literatura mundial como la nuestra. Se han clasificado de acuerdo a su tipo morfológico o de acuerdo a conceptos etiológicos de su desarrollo, dividiéndolos en congénitos y adquiridos. Pueden permanecer asintomáticos, o causar síntomas por compresión de órganos vecinos. La sonografia es definitiva para el diagnóstico y por lo mismo debe ser utilizada como prioridad, y en caso de duda complementarla con T.A.C. Su tratamiento de elección es quirúrgico radical. Se informan de dos casos, confirmados sus diagnósticos; uno en el transoperatorio y el otro en el estudio necrópsico

Relación entre la luminosidad e intensidad de floración de la quinua

Introducción. Revisión bibliográfica. Materiales y métodos. Promedio de intensidad de floración por hora y por línea. Intensidad de floración expresado en porcentaje. Hora y porcentaaje máximo de floración por línea. Conlusiones