Repetitive Transcranial Magnetic Stimulation in Stroke: A Literature Review of the Current Role and Controversies of Neurorehabilitation Through Electromagnetic Pulses.

Repetitive transcranial magnetic stimulation (rTMS) is an effective method used for the treatment of various neurological diseases, including stroke, epilepsy, and movement disorders. The pathophysiological mechanism for the effect of TMS is not clear. In this literature review, we conducted a detailed search regarding the effect of rTMS on neurotransmission and neuronal plasticity through the modulation of neuronal excitability. Evidence suggests that intramolecular subatomic mechanisms, including genetic changes related to neuronal prevention and death, play an important role. We also discuss the use of rTMS in the rehabilitation of patients with stroke and its main complications, as well as alternative mechanisms related to recovery, emphasizing the findings of available evidence and touching on possible controversies and limitations of the method.

Field study of parasitic contamination of fruits, vegetables and leafy greens in the Ecuadorian Andes.

Background: Raw vegetables have been considered vehicles of enteroparasites. South American countries are among the most important exporters of fresh vegetables, including Ecuador, which has a tropical climate and soils rich in organic matter that allow it to harvest throughout the year for sale to different countries. The aim of the study was to assess the occurrence of the parasitic contamination of fruits, vegetables and leafy greens grown in an agricultural area of the Ecuadorian Andes. Methods: A cross-sectional field study was conducted with snowball sampling on 1,416 samples (516 fruits, 488 vegetables, and 412 leafy greens). Each sample were washed with water, and the resulting solution after removing the vegetables, was subjected to 24-hour sedimentation. The concentrated sediment underwent microscopic analysis. Results: The overall positivity for parasitic contamination was 63.4%, with leafy greens having the highest contamination rate (76.9%) (P<0.0001), surpassing vegetables (67.8%) and fruits (48.4%). Cabbage (100%), onions (84%), and strawberries (60.2%) emerged as the most contaminated within their respective groups. Protozoa were more prevalent (49.6%) than helminths (15.5%) (P<0.0001). Blastocystis sp. (33.5%) ranked highest, followed by Eimeria spp. (26.3%), Entamoeba spp. (10.3%), Giardia spp. (8.3%), Balantidium spp. (6.9%), Cryptosporidium spp. (6.6%), Cyclospora spp. (4.4%), Cystoisospora spp. (0.5%), Strongylida (15.5%), and Ascaris spp. (0.4%). Conclusions: The study reveals that vegetables and fruits for human consumption from this area of the Ecuadorian Andes are highly contaminated with various parasites, constituting a possible source of infection for humans and animals in this area, or in non-endemic areas where these products are marketed. The finding emphasizes the need for strict hygienic measures in agricultural crops, which will be properly achieved through the treatment of soil, manure and water used for cultivation.

Papel de la atención psicopedagógica en el sistema educativo / Role of psychopedagogical care in the educational system

La educación es un proceso complejo en cualquiera de los niveles educativos. Los educandos pueden sentir distintas sensaciones como miedo, inseguridad, alegría, temor y ansiedad que condicionan la actitud y predisposición al régimen educativo. La adaptación al proceso se hace diferente en cada estudiante y depende de la capacidad propia de vencer, controlar o modificar los sentimientos que se generan. En ocasiones, es necesario la orientación profesional, como alternativa orientadora, para lograr una mejor adaptación de los estudiantes al medio que los rodea y que no se afecte su rendimiento académico ni su comportamiento social. La atención psicopedagógica se considera una herramienta metodológica de apoyo al sistema educativo, cuya importancia no es dimensionada correctamente en muchas ocasiones(AU)

Education is a complex process at any educational level. Learners can feel different sensations such as fear, insecurity, happiness, fear and anxiety that condition the attitude and predisposition to the educational system. Adaptation to the process is different for each student and depends on their own ability to overcome, control or modify the feelings that are generated. Sometimes professional guidance is necessary, as a guidance alternative, to achieve a better adaptation of students to the environment that surrounds them and that neither their academic performance nor their social behavior is affected. Psychopedagogical attention is considered a methodological tool to support the educational system, whose importance is not correctly dimensioned on many occasions(AU)

Tratamiento quirúrgico conservador del embarazo intersticial, con antecedente de salpingectomía homolateral. Reporte de un caso / Conservative surgical management of interstitial pregnancy, with a history of ipsilateral salpingectomy. Report of a case

Resumen ANTECEDENTES: El procedimiento quirúrgico del embarazo intersticial puede complicarse con hemorragia difícil de controlar; por esto en los últimos años se recurre a las técnicas que permiten el control hemostático, con lo que disminuyen la morbilidad y mortalidad relacionadas con el procedimiento. OBJETIVO: Describir el proceso para establecer el diagnóstico y decidir el tratamiento quirúrgico conservador en una paciente con embarazo intersticial con antecedente de salpingectomía homolateral y deseo de preservación uterina. CASO CLINICO: Paciente de 27 años, con antecedentes de un parto, tres abortos y un embarazo ectópico previo, con salpingectomía izquierda. Acudió a consulta debido a un retraso menstrual de siete semanas y dolor pélvico agudo. Ante la sospecha de embarazo ectópico se integró el protocolo diagnóstico. La cuantificación de la fracción-β de hormona gonadotropina coriónica fue de 8962 mlU/mL, el ultrasonido transvaginal reportó una imagen compatible con saco gestacional hacia la región del cuerno izquierdo y probable hemoperitoneo. En la laparotomía exploradora se encontraron: hemoperitoneo y embarazo intersticial izquierdo. Con el propósito de preservar la fertilidad se hizo una doble ligadura de la arteria uterina izquierda, a nivel de istmo uterino y del ligamento útero-ovárico y resección del saco gestacional intersticial, con cornuostomía. CONCLUSION: El embarazo intersticial es una urgencia obstétrica con alto riesgo de ruptura y hemorragia, por fortuna poco frecuente. La ligadura de las arterias uterinas, previa a la ablación quirúrgica del saco gestacional, es una alternativa individualizada en pacientes con esta complicación.

Abstract BACKGROUND: The surgical procedure of interstitial pregnancy can be complicated by bleeding that is difficult to control; for this reason, in recent years, techniques that allow hemostatic control to have been used, thus reducing morbidity and mortality related to the procedure. OBJECTIVE: To describe the process to establish the diagnosis and decide the conservative surgical treatment in a patient with interstitial pregnancy with a history of homolateral salpingectomy and desire for uterine preservation. CLINICAL CASE: 27-year-old patient, with a history of one childbirth, three miscarriages and a previous ectopic pregnancy, with left salpingectomy. She came for consultation due to a seven-week menstrual delay and acute pelvic pain. In view of the suspicion of ectopic pregnancy, the diagnostic protocol was integrated. The quantification of the β-fraction of chorionic gonadotropin hormone was 8962 mlU/mL, the transvaginal ultrasound reported an image compatible with gestational sac towards the left horn region and probable hemoperitoneum. At exploratory laparotomy, hemoperitoneum and left interstitial pregnancy were found. To preserve fertility, a double ligation of the left uterine artery at the level of the uterine isthmus and the utero-ovarian ligament and resection of the interstitial gestational sac with cornuostomy was performed. CONCLUSION: Interstitial pregnancy is an obstetric emergency with a high risk of rupture and hemorrhage, fortunately rare. Ligation of the uterine arteries, prior to surgical ablation of the gestational sac, is an individualized alternative in patients with this complication.

Consenso sobre el tratamiento del síndrome inflamatorio multisistémico asociado a COVID-19 / Consensus on treatment of multisystemic inflammatory syndrome associated with COVID-19

La pandemia ocasionada por el nuevo coronavirus (SARS-CoV-2), declarada por la Organización Mundial de la Salud OMS) en marzo de 2020, afecta a un reducido número de pacientes pediátricos, quienes presentan, en su mayoría, compromiso respiratorio leve y evolución favorable. Sin embargo, en niños previamente sanos, comenzó a observarse un aumento de casos definidos como síndrome inflamatorio multisistémico (SIM-C) o similar a Kawasaki (Kawasaki-like) asociado a la enfermedad por el nuevo coronavirus (COVID-19) (KL-C) que evolucionan al shock y requieren internación en la unidad de cuidados intensivos.Los cuadros de SIM-C y los KL-C se caracterizan por fiebre, signos de inflamación, síntomas gastrointestinales y disfunción cardiovascular; las formas graves de presentación tienen mayor incidencia de hipotensión y/o shock. En el laboratorio se observan marcadores de inflamación, hipercoagulabilidad y daño miocárdico. El tratamiento farmacológico de primera línea consiste en la administración de inmunoglobulina por vía intravenosa más ácido acetilsalicílico por vía oral.Se recomienda un abordaje multidisciplinario para un diagnóstico certero y un tratamiento temprano y eficaz para disminuir la morbimortalidad.

The pandemic caused by the SARS-CoV-2 virus declared by the WHO in March 11th 2020, affects a small number of pediatric patients, who mostly present mild respiratory compromise and favorable evolution.However began to be observed in previously healthy children, an increase in cases defined as "Multisystemic Inflammatory Syndrome" (MIS-C) or "Kawasaki-like" post-COVID 19 (KL-C) that evolve to shock and require hospitalization in the Pediatric Intensive Care Unit.MIS-C and KL-C are characterized by fever; signs of inflammation, gastrointestinal symptoms, and cardiovascular dysfunction, associated with sever forms of presentation with higher incidence of hypotension and/or shock. In the laboratory, markers of inflammation, hypercoagulability and myocardial damage are observed. First-line drug treatment consists of intravenous immunoglobulin plus oral acetylsalicylic acid.A multidisciplinary approach is recommended for an accurate diagnosis and an early and effective treatment, in order to reduce morbidity and mortality.

[Consensus on treatment of multisystemic inflammatory syndrome associated with COVID-19]. / Consenso sobre el tratamiento del síndrome inflamatorio multisistémico asociado a COVID-19.

The pandemic caused by the SARS-CoV-2 virus declared by the WHO in March 11th 2020, affects a small number of pediatric patients, who mostly present mild respiratory compromise and favorable evolution. However began to be observed in previously healthy children, an increase in cases defined as "Multisystemic Inflammatory Syndrome" (MIS-C) or "Kawasaki-like" post-COVID 19 (KLC) that evolve to shock and require hospitalization in the Pediatric Intensive Care Unit. MIS-C and KL-C are characterized by fever; signs of inflammation, gastrointestinal symptoms, and cardiovascular dysfunction, associated with sever forms of presentation with higher incidence of hypotension and/or shock. In the laboratory, markers of inflammation, hypercoagulability and myocardial damage are observed. Firstline drug treatment consists of intravenous immunoglobulin plus oral acetylsalicylic acid. A multidisciplinary approach is recommended for an accurate diagnosis and an early and effective treatment, in order to reduce morbidity and mortality.

La pandemia ocasionada por el nuevo coronavirus (SARS-CoV-2), declarada por la Organización Mundial de la Salud OMS) en marzo de 2020, afecta a un reducido número de pacientes pediátricos, quienes presentan, en su mayoría, compromiso respiratorio leve y evolución favorable. Sin embargo, en niños previamente sanos, comenzó a observarse un aumento de casos definidos como síndrome inflamatorio multisistémico (SIM-C) o similar a Kawasaki (Kawasaki-like) asociado a la enfermedad por el nuevo coronavirus (COVID-19) (KL-C) que evolucionan al shock y requieren internación en la unidad de cuidados intensivos. Los cuadros de SIM-C y los KL-C se caracterizan por fiebre, signos de inflamación, síntomas gastrointestinales y disfunción cardiovascular; las formas graves de presentación tienen mayor incidencia de hipotensión y/o shock. En el laboratorio se observan marcadores de inflamación, hipercoagulabilidad y daño miocárdico. El tratamiento farmacológico de primera línea consiste en la administración de inmunoglobulina por vía intravenosa más ácido acetilsalicílico por vía oral. Se recomienda un abordaje multidisciplinario para un diagnóstico certero y un tratamiento temprano y eficaz para disminuir la morbimortalidad.

Comportamiento clínico epidemiológico de gestantes adolescentes con hipertensión arterial / Clinical epidemiological behavior of adolescent pregnant women with arterial hypertension

RESUMEN Fundamento: los trastornos hipertensivos son considerados como la principal causa de morbimortalidad materna y fetal a nivel mundial y en Ecuador. Objetivo: describir el comportamiento clínico epidemiológico de los trastornos hipertensivos de la gestación en adolescentes. Métodos: se realizó un estudio descriptivo que incluyó las 59 de gestantes adolescentes que presentaron preeclampsia o eclampsias atendidas en el contexto de la investigación durante el periodo comprendido entre mayo y diciembre de 2017. Se aplicó un cuestionario de investigación para obtener la información relacionada con las variables de investigación definidas. Resultados: promedio de edad de 16,32 años, predominio de gestantes con color de la piel no blanco y nulíparas. Elevado número de comorbilidades asociadas con predominio del sobrepeso e hipertensión arterial; predominio de pacientes que no habían recibido tratamiento preventivo con calcio y aspirina. La cefalea y el edema en miembros inferiores fueron las complicaciones maternas más frecuentes. El sufrimiento fetal, el crecimiento intrauterino retardado y la prematuridad fueron las complicaciones fetales con mayor frecuencia de presentación. Conclusiones: el patrón clínico y epidemiológico de las adolescentes con preeclampsia y eclampsia coincide con lo reportado en la literatura universal. Se evidencian falencias en el programa de control de riesgo preconcepcional y en la calidad del seguimiento de las gestantes que motiva un aumento de la incidencia de eclampsia y preeclampsia.

ABSTRACT Background: hypertensive disorders are considered as the main cause of maternal and fetal morbidity and mortality worldwide and in Ecuador. Objective: to describe the epidemiological clinical behavior of hypertensive disorders of pregnancy in adolescents. Methods: a descriptive study was carried out which included the 59 of pregnant teenagers who presented preeclampsia and/or eclampsia attended in the context of the research during the period from May to December 2017. A research questionnaire was applied to obtain information related to the variables of defined research. Results: average age of 16.32 years, predominance of pregnant women with non-white skin color and nulliparous. High number of comorbidities associated with a predominance of overweight and arterial hypertension; predominance of patients who had not received preventive treatment with calcium and aspirin. Headache and edema in the lower limbs were the most frequent maternal complications. Fetal distress, delayed intrauterine growth and prematurity were the fetal complications with the highest frequency of presentation. Conclusions: the clinical and epidemiological pattern of adolescents with preeclampsia and eclampsia coincides with that reported in the universal literature. Failures are evident in the preconception risk control program and in the quality of the follow-up of pregnant women that motivates an increase in the incidence of eclampsia and preeclampsia.

Dispersión hídrica de enteroparásitos en una zona agropecuaria de gran altitud, en Los Andes Ecuatorianos / Water dispersion of enteroparasites in a high-altitude agricultural area, in The Ecuadorian Andes

La finalidad de esta investigación fue determinar las especies de enteroparásitos que son vehiculizadas por agua de regadío, entubada y estancada, como factor de riesgo asociado a la transmisión en una comunidad rural de la provincia de Chimborazo-Ecuador. Se realizó una investigación de campo, transversal, con muestreo no probabilístico intencional, en el que se incluyeron 214 muestras de agua: 37 de canales de riego, 147 que surten las viviendas y 30 estancadas. Las muestras se analizaron mediante Sedimentación espontánea, técnica de Bailenger (modificada) y coloración de Ziehl Neelsen (modificada). El agua de regadío y la estancada, obtuvieron el 100% de contaminación parasitaria y en menor grado la entubada, con 57,14%. La mayor proporción fue de protozoarios (70,56%), seguidos de chromistas (40,65%) y helmintos (13,08%). Entre los parásitos transmisibles, se destacan: Blastocystis spp. (40,65%), Amebas de vida libre (5,61%), Entamoeba spp. (8,41%), Giardia duodenalis (6,54%), Balantidium spp. (13,51%), Cryptosporidium spp. (17,76%), Cyclospora spp. (3,74%), Cystoisospora spp. (2,34%), Eimeria spp. (13,55%), Dibothriocephalus spp. (0,47%) y larvas de nemátodos (13,08%). Los resultados evidencian la presencia de parásitos de transmisión hídrica en los tres cuerpos de agua estudiados, lo que constituye un riesgo de infección humana, veterinaria y de contaminación para los productos agrícolas

The purpose of this investigation was to determine the species of enteroparasites that are carried by irrigated, piped and stagnant water, as a risk factor associated with transmission in a rural community in the province of Chimborazo-Ecuador. A cross-sectional field investigation was carried out, with an intentional non-probability sampling, in which 214 water samples were included: 37 from irrigation canals, 147 that supply the houses and 30 stagnant. The samples were analyzed by spontaneous sedimentation, Bailenger technique (modified) and Ziehl Neelsen staining (modified). Irrigation and stagnant water obtained 100% of parasitic contamination and to a lesser extent piped, with 57.14%. The highest proportion was of protozoa (70.56%), followed by chromists (40.65%) and helminths (13.08%). Among the transmissible parasites, the following stand out: Blastocystis spp. (40.65%), Free-living amoebas (5.61%), Entamoeba spp. (8.41%), Giardia duodenalis (6.54%), Balantidium spp. (13.51%), Cryptosporidium spp. (17.76%), Cyclospora spp. (3.74%), Cystoisospora spp. (2.34%), Eimeria spp. (13.55%), Dibothriocephalus spp. (0.47%) and nematode larvae (13.08%). The results show the presence of parasites of water transmission in the three bodies of water studied, which constitutes a risk of human, veterinary infection and contamination for agricultural products

Dimensiones de calidad de vida afectadas en pacientes diabéticos / Quality of Life Dimensions Affected in Diabetic Patients

Introducción: La diabetes mellitus, segunda causa de mortalidad a nivel mundial, es una enfermedad crónica con elevada incidencia en adultos. La calidad de vida puede verse modificada con la sintomatología que afecta el estado de salud del paciente. Objetivo: Describir las dimensiones de calidad de vida afectadas en pacientes adultos y adultos mayores diabéticos. Métodos: Estudio descriptivo, transversal en unidades operativas del Distrito de Salud Chambo-Riobamba, Ecuador, desde noviembre 2017 a enero 2018. Universo de 138 pacientes con diabetes mellitus. Se realizó un muestreo no probabilístico por conveniencia, la muestra quedó constituida por 101 pacientes. Para obtener los datos se empleó la escala de calidad de vida y satisfacción en pacientes. Resultados: Predominó el sexo femenino en edades de 50 a 79 años (76,20 por ciento), religión católica (79,20 por ciento), casados (62,37 por ciento) y nivel de instrucción básica (60,39 por ciento). La hipertensión arterial, la artritis y los problemas de visión conformaron las características clínicas con mayor incidencia. Entre las dimensiones de calidad de vida frecuentemente afectadas se reportaron los cambios en su apariencia y las limitaciones para desarrollar actividades físicas. Conclusiones: Los cambios en su vida personal, la capacidad individual para adaptarse a la enfermedad, las limitaciones para el desarrollo de las actividades diarias, el descanso y los problemas económicos, se encuentran entre las dimensiones de calidad de vida más afectadas, las que generan en el enfermo dificultades para el mantenimiento de su salud(AU)

Introduction: Diabetes mellitus, the second leading cause of mortality worldwide, is a chronic disease with a high incidence in adults. The quality of life can be modified with the symptoms that affect the patient's state of health. Objective: To describe the dimensions of quality of life that are affected in diabetic adult and elderly patients. Methods: Descriptive, cross-sectional study with operational units of the Chambo-Riobamba Health District, Ecuador, from November 2017 to January 2018. The study group was made up of 138 patients with diabetes mellitus. A non-probabilistic sampling was carried out for convenience, and the sample finally consisted of 101 patients. To obtain the data, the scale of quality of life and satisfaction in patients was used. Results: There was a predominance of the female sex prevailed at ages 50 to 79 (76.20 percent), together with the Catholic religion (79.20 percent), married as a status (62.37 percent), and basic education level (60.39 percent). Hypertension, arthritis and vision problems formed the clinical features with the highest incidence. Among the dimensions of quality of life frequently affected, changes in their appearance and limitations to develop physical activities were reported. Conclusions: Changes in personal life, the individual capacity to adapt to the disease, limitations for the development of daily activities, rest, and economic problems are among the most affected dimensions of quality of life, which generate difficulties for the patients' maintaining their health(AU)

Novel Cupriavidus Strains Isolated from Root Nodules of Native Uruguayan Mimosa Species.

UNLABELLED: The large legume genus Mimosa is known to be associated with both alphaproteobacterial and betaproteobacterial symbionts, depending on environment and plant taxonomy, e.g., Brazilian species are preferentially nodulated by Burkholderia, whereas those in Mexico are associated with alphaproteobacterial symbionts. Little is known, however, about the symbiotic preferences of Mimosa spp. at the southern subtropical limits of the genus. In the present study, rhizobia were isolated from field-collected nodules from Mimosa species that are native to a region in southern Uruguay. Phylogenetic analyses of sequences of the 16S rRNA, recA, and gyrB core genome and the nifH and nodA symbiosis-essential loci confirmed that all the isolates belonged to the genus Cupriavidus However, none were in the well-described symbiotic species C. taiwanensis, but instead they were closely related to other species, such as C. necator, and to species not previously known to be symbiotic (or diazotrophic), such as C. basilensis and C. pinatubonensis Selection of these novel Cupriavidus symbionts by Uruguayan Mimosa spp. is most likely due to their geographical separation from their Brazilian cousins and to the characteristics of the soils in which they were found. IMPORTANCE: With the aim of exploring the diversity of rhizobia associated with native Mimosa species, symbionts were isolated from root nodules on five Mimosa species that are native to a region in southern Uruguay, Sierra del Abra de Zabaleta. In contrast to data obtained in the major centers of diversification of the genus Mimosa, Brazil and Mexico, where it is mainly associated with Burkholderia and Rhizobium/Ensifer, respectively, the present study has shown that all the isolated symbiotic bacteria belonged to the genus Cupriavidus Interestingly, none of nodules contained bacteria belonging to the well-described symbiotic species C. taiwanensis, but instead they were related to other Cupriavidus species such as C. necator and C. pinatubonensis These data suggest the existence of a higher diversity within beta-rhizobial Cupriavidus than was previously suspected, and that Mimosa spp. from Sierra del Abra de Zabaleta, may be natural reservoirs for novel rhizobia.

Generation of an inbred miniature pig model of retinitis pigmentosa.

PURPOSE: The Pro23His (P23H) rhodopsin (RHO) mutation underlies the most common form of human autosomal dominant retinitis pigmentosa (adRP). The objective of this investigation was to establish a transgenic miniature swine model of RP using the human P23H RHO gene. METHODS: Somatic cell nuclear transfer (SCNT) was used to create transgenic miniature pigs that expressed the human P23H RHO mutation. From these experiments, six transgenic founders were identified whose retinal function was studied with full-field electroretinography (ffERG) from 3 months through 2 years. Progeny from one founder were generated and genotyped to determine transgene inheritance pattern. Retinal mRNA was isolated, and the ratio of P23H to wild-type pig RHO was measured. RESULTS: A single transgene integration site was observed for five of the six founders. All founders had abnormal scotopic and photopic ffERGs after 3 months. The severity of the ffERG phenotype was grouped into moderately and severely affected groups. Offspring of one founder inherited the transgene as an autosomal dominant mutation. mRNA analyses demonstrated that approximately 80% of total RHO was mutant P23H. CONCLUSIONS: Expression of the human RHO P23H transgene in the retina creates a miniature swine model with an inheritance pattern and retinal function that mimics adRP. This large-animal model can serve as a novel tool for the study of the pathogenesis and therapeutic intervention in the most common form of adRP.

Genome rearrangements detected by SNP microarrays in individuals with intellectual disability referred with possible Williams syndrome.

BACKGROUND: Intellectual disability (ID) affects 2-3% of the population and may occur with or without multiple congenital anomalies (MCA) or other medical conditions. Established genetic syndromes and visible chromosome abnormalities account for a substantial percentage of ID diagnoses, although for approximately 50% the molecular etiology is unknown. Individuals with features suggestive of various syndromes but lacking their associated genetic anomalies pose a formidable clinical challenge. With the advent of microarray techniques, submicroscopic genome alterations not associated with known syndromes are emerging as a significant cause of ID and MCA. METHODOLOGY/PRINCIPAL FINDINGS: High-density SNP microarrays were used to determine genome wide copy number in 42 individuals: 7 with confirmed alterations in the WS region but atypical clinical phenotypes, 31 with ID and/or MCA, and 4 controls. One individual from the first group had the most telomeric gene in the WS critical region deleted along with 2 Mb of flanking sequence. A second person had the classic WS deletion and a rearrangement on chromosome 5p within the Cri du Chat syndrome (OMIM:123450) region. Six individuals from the ID/MCA group had large rearrangements (3 deletions, 3 duplications), one of whom had a large inversion associated with a deletion that was not detected by the SNP arrays. CONCLUSIONS/SIGNIFICANCE: Combining SNP microarray analyses and qPCR allowed us to clone and sequence 21 deletion breakpoints in individuals with atypical deletions in the WS region and/or ID or MCA. Comparison of these breakpoints to databases of genomic variation revealed that 52% occurred in regions harboring structural variants in the general population. For two probands the genomic alterations were flanked by segmental duplications, which frequently mediate recurrent genome rearrangements; these may represent new genomic disorders. While SNP arrays and related technologies can identify potentially pathogenic deletions and duplications, obtaining sequence information from the breakpoints frequently provides additional information.

Inversion of the Williams syndrome region is a common polymorphism found more frequently in parents of children with Williams syndrome.

Williams syndrome (WS) is a multisystem disorder caused by deletion of about 1.55 Mb of DNA (including 26 genes) on chromosome 7q11.23, a region predisposed to recombination due to its genomic structure. Deletion of the Williams syndrome chromosome region (WSCR) occurs sporadically. To better define chance for familial recurrence and to investigate the prevalence of genomic rearrangements of the region, 257 children with WS and their parents were studied. We determined deletion size in probands by metaphase FISH, parent-of-origin of the deleted chromosome by molecular genetic methods, and inversion status of the WSCR in both parents by interphase FISH. The frequency of WSCR inversion in the transmitting parent group was 24.9%. In contrast, the rate of inversion in the non-transmitting parent group (a reasonable estimate of the rate in the general population) was 5.8%. There were no significant gender differences with respect to parent-of-origin for the deleted chromosome or the incidence of the inversion polymorphism. There was no difference in the rate of spontaneous abortion for mothers heterozygous for the WSCR inversion relative to mothers without the inversion. We calculate that for a parent heterozygous for a WSCR inversion, the chance to have a child with WS is about 1 in 1,750, in contrast to the 1 in 9,500 chance for a parent without an inversion.

Alpha 1 antitrypsin deficiency alleles are associated with joint dislocation and scoliosis in Williams syndrome.

Elastin haploinsufficiency is responsible for a significant portion of the Williams syndrome (WS) phenotype including hoarse voice, supravalvar aortic stenosis (SVAS), hernias, diverticuli of bowel and bladder, soft skin, and joint abnormalities. All of the connective tissue signs and symptoms are variable in the WS population, but few factors other than age and gender are known to influence the phenotype. We examined a cohort of 205 individuals with WS for mutations in SERPINA1, the gene that encodes alpha-1-antitrypsin (AAT), the inhibitor of elastase. Individuals with classic WS deletions and SERPINA1 genotypes PiMS or PiMZ were more likely than those with a SERPINA1 PiMM genotype to have joint dislocation or scoliosis. However, carrier status for AAT deficiency was not correlated with presence of inguinal hernia or with presence or severity of SVAS. These findings suggest that genes important in elastin metabolism are candidates for variability in the connective tissue abnormalities in WS.

Evolución y pronóstico de la comunicación interventricular(CIV)de resolución quirúrgica / Outcome and prognosis of ventricular septal defect (VSD)of surgical resolution

Introducción.Las cardiopatías congénitas ocasionan casi la mitad de la muertes por malformaciones en el período neonatal.Material y Métodos.Se revisaron las historias clínicas de 30 lactantes(<1 año de edad)afectados de comunicación interventricular(CIV)que requerían cirugía correctora y que fueron atendidos en el Servicio de cardiología del Hospital "Dr J.P Garrahan"durante 1989.Se analizan las siguientes variables:1)edad a la admisión al hospital,a la indicación quirúrgica y la fecha de cirugía;2)estado nutricional;3)frecuencia de ingresos por complicaciones o cardiológicas;4)residencia de los pacientes y 5)pertencia a una obra social.Diez niños fueron perdidos de seguimiento.Sólo catorce lactantes fueron tratados con cirugía correctora y trece evolucionaron evolucionaron satisfactoriamente.Un lactante fue tratado con cirugía paliativa.Cuatro pacientes fallecieron,dos luego de la cirugía y los restantes antes de la fecha quirúrgica.Conclusiones.No hubo en cambio diferencias en la pertenencia a una obra social o la residencia en le interior del país entre los distintos grupos.El sistema de salud requiere de futuros episodios epidemiológicos y de una mejor organización y regionalización de la atención pediátrica a fin de mejorar los resultados del tratamiento de los lactantes con CIV quirúrgica

Evolución y pronóstico de la comunicación interventricular(CIV)de resolución quirúrgica / Outcome and prognosis of ventricular septal defect (VSD)of surgical resolution

Introducción.Las cardiopatías congénitas ocasionan casi la mitad de la muertes por malformaciones en el período neonatal.Material y Métodos.Se revisaron las historias clínicas de 30 lactantes(<1 año de edad)afectados de comunicación interventricular(CIV)que requerían cirugía correctora y que fueron atendidos en el Servicio de cardiología del Hospital "Dr J.P Garrahan"durante 1989.Se analizan las siguientes variables:1)edad a la admisión al hospital,a la indicación quirúrgica y la fecha de cirugía;2)estado nutricional;3)frecuencia de ingresos por complicaciones o cardiológicas;4)residencia de los pacientes y 5)pertencia a una obra social.Diez niños fueron perdidos de seguimiento.Sólo catorce lactantes fueron tratados con cirugía correctora y trece evolucionaron evolucionaron satisfactoriamente.Un lactante fue tratado con cirugía paliativa.Cuatro pacientes fallecieron,dos luego de la cirugía y los restantes antes de la fecha quirúrgica.Conclusiones.No hubo en cambio diferencias en la pertenencia a una obra social o la residencia en le interior del país entre los distintos grupos.El sistema de salud requiere de futuros episodios epidemiológicos y de una mejor organización y regionalización de la atención pediátrica a fin de mejorar los resultados del tratamiento de los lactantes con CIV quirúrgica