RESUMEN
OBJECTIVES: The objective of this study was to examine nutritional status, psychomotor and socioemotional development of children living with mothers in prison in the province of Buenos Aires, Argentina. MATERIALS AND METHODS: Sex, age, weight and height were measured in children (37) residents with their mothers (28) in the Criminal Unit No. 33 of the SPB. Nutritional indicators were calculated and analyzed according to the WHO international reference (2006). National Research Test (PRUNAPE) and the parental questionnaire Ages and Stages Questionnaires: SocioEmotional®, Second Edition (ASQ:SE-2) were applied to evaluate development. RESULTS: Anthropometric evaluation showed that 7% of children under 2 years presented low weight, 3% alert of low weight, 28% high weight and 14% low height. Children over 2 years of age showed 37.5% of high weight and 25% of risk of overweight. There were no children with short stature. PRUNAPE and ASQ:SE-2 tests: in the 30 cases that completed both tests more than half (53.3%) obtained scores within the expected. In the group of children with both tests who did not pass the PRUNAPE (n= 9), the result found in the ASQ-SE 2 was diverse: 66.6% is within the expectations and 33.3% at risk. Neither of children with both tests that did not pass the ASQ:SE-2, passed the PRUNAPE. CONCLUSION: There were high prevalences of excess weight and high percentages of risk in psychomotor development, considerably higher than in the general population. There is a need to carry out actions to reduce the harmful effect of childhood confinement.
Asunto(s)
Desarrollo Infantil , Prisiones , Características de la Residencia , Argentina , Preescolar , Estudios Transversales , Ajuste Emocional , Femenino , Humanos , Lactante , Masculino , Estado Nutricional , Desempeño PsicomotorRESUMEN
We present clinical and cytogenetic studies of a female patient affected with choroideremia, mild sensorineural deafness, and primary amenorrhea showing a balanced translocation between chromosomes X and 4. The breakpoint was precisely defined applying FISH techniques: 46,X,t(X;4)(q21.2;p16.3).ish t(X;4)(D4S96+, D4F26+; wcpX+). The X-chromosomal breakpoint was located within a region where both the choroideremia locus and a deafness locus (DFN3/POU3F4) have been mapped. The presence of X-linked disorders in this balanced carrier of X-autosomal translocations (XAT) can be explained either by the disruption of the structural coding or regulatory sequences of the gene(s) or by the submicroscopic deletion of this region leading to a contiguous gene deletion syndrome. The primary ovarian failure (POF) found in the present case has been already observed in XAT when the breakpoint is within a previously defined critical region (Xq13-26). A position effect is postulated as a possible explanation.
Asunto(s)
Coroideremia/genética , Sordera/genética , Pérdida Auditiva Sensorineural/genética , Insuficiencia Ovárica Primaria/genética , Translocación Genética , Cromosoma X , Adulto , Coroideremia/complicaciones , Coroideremia/patología , Bandeo Cromosómico , Cromosomas Humanos Par 4 , Sondas de ADN , Sordera/complicaciones , Sordera/patología , Femenino , Angiografía con Fluoresceína , Ligamiento Genético , Pérdida Auditiva Sensorineural/complicaciones , Pérdida Auditiva Sensorineural/patología , Humanos , Hibridación Fluorescente in Situ , Cariotipificación , Masculino , Insuficiencia Ovárica Primaria/complicaciones , Insuficiencia Ovárica Primaria/patologíaRESUMEN
Objetivos: Examinar el estado nutricional, el desarrollo psicomotor y socioemocional de niñas y niños (a partir de ahora niños) que viven con sus madres en la Unidad Penal N° 33 de la provincia de Buenos Aires, Argentina. Materiales y métodos: Se registraron el sexo, la edad, el peso y la estatura de los niños (37) residentes con sus madres (28) en la Unidad Criminal No. 33 del SPB. Se calcularon los indicadores nutricionales y se analizaron según la referencia internacional de la Organización Mundial de la Salud (WHO/OMS) de 2006. Se evaluó el desarrollo infantil con la Prueba Nacional de Pesquisa (PRUNAPE) y el cuestionario socioemocional Ages and Stages Questionnaires: Socio-Emotional(R), Second Edition (ASQ:SE-2). Resultados: En la evaluación antropométrica se identificó: en menores de dos años, el 7% con bajo peso, el 3% con alerta de bajo peso, el 28% con alto peso y el 14% con baja talla. En mayores de dos años, el 37,5% tienen alto peso; y el 25%, riesgo de sobrepeso. No se encontró baja talla. En las pruebas PRUNAPE y ASQ:SE-2, de los 30 casos que completaron ambas pruebas, el 53,3% obtuvo puntuaciones dentro de lo esperado. En el grupo con ambas pruebas que no pasaron la PRUNAPE (n=9), el resultado encontrado en el ASQ:SE-2 fue que el 66,6% se hallaba dentro de las expectativas, y el 33,3%, en riesgo. En el grupo de niños con ambas pruebas que no pasaron el ASQ:SE-2, ninguno resolvió la PRUNAPE. Conclusión: Se registraron prevalencias elevadas de exceso de peso y altos porcentajes de riesgo en el desarrollo psicomotor, considerablemente superiores que en la población general. Se plantea la necesidad de acciones que disminuyan el efecto nocivo del internamiento en la infancia
Objective: The objective of this study was to examine the nutritional status, psychomotor and socioemotional development of children living with their mothers in prison in the province of Buenos Aires, Argentina. Material and method: Sex, age, weight and height were measured in children (37) residing with their mothers (28) in Prison No.33 of the SPB. Nutritional indicators were calculated and analyzed according to the WHO international reference (2006). National Research Test (PRUNAPE) and the parental questionnaire Ages and Stages Questionnaires: Socio-Emotional(R), Second Edition (ASQ:SE-2) were applied to evaluate development. Results: Anthropometric evaluation showed that 7% of children under 2 years presented low weight, 3% alert of low weight, 28% high weight and 14% low height. Children over 2 years of age showed 37.5% of high weight and 25% of risk of overweight. There were no children with short stature. PRUNAPE and ASQ:SE-2 tests: in the 30 cases that completed both tests more than half (53.3%) obtained scores within the expected range. In the group of children with both tests who did not pass the PRUNAPE (n = 9), the result found in the ASQ-SE 2 was diverse: 66.6% within expectations and 33.3% at risk. Neither of children with both tests who did not pass the ASQ:SE-2 passed the PRUNAPE. Conclussion: There were high prevalences of excess weight and high percentages of risk in psychomotor development, considerably higher than in the general population. There is a need to take action to reduce the harmful effect of childhood confinement
Asunto(s)
Humanos , Masculino , Femenino , Recién Nacido , Lactante , Preescolar , Prisiones/estadística & datos numéricos , Desarrollo Infantil , Desarrollo de la Personalidad , Crianza del Niño/psicología , Estudios Transversales , Relaciones Madre-Hijo , Responsabilidad Parental/psicologíaRESUMEN
Prenatal diagnosis of sex differentiation disorders is extremely rare and is estimated in 1/2500 analyzed gestations. A group of this disorders are the 46, XX males and its incidence is estimated in 1/20000 male neonates. We report a male XX fetus in which the diagnosis of sex determination was requested at 20 gestation weeks to clarify the real gender of the fetus. Discrepancy between cytogenetic and ultrasonographic was detected.
Asunto(s)
Trastornos del Desarrollo Sexual/diagnóstico , Amelogenina , Cromosomas Humanos X/genética , Proteínas del Esmalte Dental/genética , Trastornos del Desarrollo Sexual/diagnóstico por imagen , Trastornos del Desarrollo Sexual/genética , Femenino , Feto , Genitales Masculinos/diagnóstico por imagen , Humanos , Cariotipificación , Masculino , Embarazo , Diagnóstico Prenatal , Proteína de la Región Y Determinante del Sexo/genética , Ultrasonografía PrenatalRESUMEN
Small supernumerary marker chromosomes are seldom found in prenatal diagnosis and the majority of them are difficult to identify. The only possibility to give a more precise prognosis is by establishing its origin. FISH is the best technique to identify the chromosomal origin, but in the majority of cases large amounts of chromosomal material are needed and this is time consuming. We have used a modification of the FISH technique that allows the hybridization of several probes on one slide. Using this method, we have identified the first de novo mosaic dicentric supernumerary marker derived from chromosome 16 (smaller than chromosome 21) in amniotic fluid. The gestation and the follow-up of the baby were normal.
Asunto(s)
Amniocentesis , Aberraciones Cromosómicas , Cromosomas Humanos Par 16 , Marcadores Genéticos , Hibridación Fluorescente in Situ , Adulto , Bandeo Cromosómico , Femenino , Humanos , EmbarazoRESUMEN
El Staphylococcus aureus meticilin resistente (SAMR), es un conocido patógeno intrahospitalario que actualmente surge como una causa prominentede infecciones cutáneas adquiridas en la comunidad (SAMR.com). En el Uruguay en los últimos años se notificó la existencia de una nueva clona concaracterísticas genotípicas y fenotípicas particulares, que ha generado una alerta sanitaria a nivel nacional. En este estudio describimos la incidencia deSAMR.com y sus diversas presentaciones clínicas, en los pacientes que consultaron en la policlínica de la Cátedra de Dermatología del Hospital de Clínicasde la Facultad de Medicina de Montevideo-Uruguay, durante el período comprendido entre el 1 de julio y el 30 de septiembre de 2004. Incluimostreina y nueve pacientes con sospecha clínica de presentar SAMR-com. Se cultivó dicho germen en veintitrés. Las patologías implicadas con mayor frecuenciaen los pacientes que desarrollaron SAMR-com fueron eccemas, forunculosis, foliculitis, y úlceras de miembros inferiores (AU)
Methicilin-resistant Staphylococcus aureus, a well known inpatient pathogen, is nowadays an important cause of community acquired skin infections.A new genotipicaly and phenotypicaly peculiar clone that caused a sanitary alert was notified community acquired in Uruguay during last years. Herewithwe describe the incidence and clinical manifestations of Methicilin-resistant Staphylococcus aureus (MRSA.ca), from the patients that consultedat the Hospital de Clínicas Dermatology Departament during july 1st and september 30, 2004. We included 39 suspicious MRSA.ca patients, 23 ofwhom had positive bacteriological cultures. Most frequent pathologies that cultured MRSA.ca were eczema, forunulitis/forunulosis and lower limbswounds (AU)