Anomalías cromosómicas subteloméricas en pacientes con retraso mental criptogénico / Subtelomeric rearrangements in cryptogenic mental retardation

Introducción: El retraso mental afecta al 3% de la población. En el 50% no es posible determinar la etiología. Las alteraciones cromosómicas submicroscópicas subteloméricas, no detectables con técnicas citogenéticas convencionales, pueden explicar algunos casos de retraso mental criptogénicos. Pacientes y métodos: Cohorte de 200 pacientes, con edades comprendidas entre los 2,5 y los 15 años, y retraso psicomotor (< 6 años) o retraso mental (> 6 años) criptogénicos. Variables: grado de retraso, dismorfias (faciales, manuales, macrosomía/microsomía), crecimiento intrauterino retardado, epilepsia. Identificación de reordenamientos cromosómicos subteloméricos mediante MLPA (multiplex ligation dependent probe amplification), que detecta pérdidas o ganancias de material genético. Confirmación de los hallazgos patológicos mediante FISH (fluorescent in situ hybridization) y/o array de CGH (comparative genomic hybridization). Resultados: Se detectaron anomalías subteloméricas en 9 pacientes, lo que representa el 4,5% de los casos. El estudio de progenitores demostró en un caso una traslocación en equilibrio. El resto eran alteraciones «de novo». Existía asociación significativa con la presencia de más de un rasgo fenotípico dismórfico o el antecedente de crecimiento intrauterino retardado, pero no con el grado de retraso ni con la presencia de epilepsia. Conclusiones: Las alteraciones cromósomicas submicroscópicas subteloméricas explican el 4,5% de los retrasos mentales de causa desconocida en nuestra serie. En nuestra población se asocian a la presencia de más de un rasgo fenotípico anormal o al antecedente de crecimiento intrauterino retardado (AU)

Introduction: Mental retardation affects 3% of the population, the origin of which cannot be established in 50% of cases. Subtelomeric rearrangements, not detected by routine cytogenetic studies, might explain some cases of unknown cause. Patients and methods: A study was conducted on 200 subjects with unexplained mental retardations using multiplex ligation dependent probe amplification (MLPA). Abnormal findings were confirmed by fluorescent in situ hybridization (FISH) and/or comparative genomic hybridization technology (CGH-array). Results: A subtelomeric aberration was identified in 9 patients. Eight were «de novo»; one was inherited from a phenotypically normal parent. There was a statistically significant association with the presence of more than one dysmorphic feature or with intrauterine growth retardation, but not with the severity of retardation or epilepsy. Conclusions: Subtelomeric rearrangements explained 4.5% of cases of mental retardation in our series. The presence of more than one dysmorphic feature or intrauterine uterine growth retardation increases the probability of this type of chromosomal aberration (AU)

[Subtelomeric rearrangements in cryptogenic mental retardation]. / Anomalías cromosómicas subteloméricas en pacientes con retraso mental criptogénico.

INTRODUCTION: Mental retardation affects 3% of the population, the origin of which cannot be established in 50% of cases. Subtelomeric rearrangements, not detected by routine cytogenetic studies, might explain some cases of unknown cause. PATIENTS AND METHODS: A study was conducted on 200 subjects with unexplained mental retardations using multiplex ligation dependent probe amplification (MLPA). Abnormal findings were confirmed by fluorescent in situ hybridization (FISH) and/or comparative genomic hybridization technology (CGH-array). RESULTS: A subtelomeric aberration was identified in 9 patients. Eight were «de novo¼; one was inherited from a phenotypically normal parent. There was a statistically significant association with the presence of more than one dysmorphic feature or with intrauterine growth retardation, but not with the severity of retardation or epilepsy. CONCLUSIONS: Subtelomeric rearrangements explained 4.5% of cases of mental retardation in our series. The presence of more than one dysmorphic feature or intrauterine uterine growth retardation increases the probability of this type of chromosomal aberration.

Lesión medular por violencia de género / Spinal cord injury due to gender violence

Objetivo. Analizar las características fundamentales de la lesión medular en una serie de mujeres de edad superior a 18 años en situación de violencia de género. Material y métodos. Período de estudio: 1992-2004. Variables: edad, nivel de lesión, clasificación ASIA, mecanismo lesional, nacionalidad, nivel cultural y aspectos legales. Resultados. Número de mujeres totales: 689 y 7 lo fueron como consecuencia de violencia de género. Edad media: 32 años (rango: 23-40). Nivel lesional: cervical (4), dorsal (2), lumbar (1). Clasificación ASIA: completa (6), incompleta (1). Causas: agresión por arma blanca (3), precipitación (3), accidente de tráfico intencionado por parte del agresor (1). Dos mujeres estaban embarazadas en el momento de la agresión. Nacionalidad: española (3) y extranjera (4). Pico de incidencia máximo (año 2002) con 4 casos. En todos los casos el nivel cultural era bajo. Se apreciaba gran reticencia para reconocer el problema de violencia de género como causa de la agresión. Conclusiones. La incidencia de la agresión en el contexto de violencia género como causa de la lesión medular en nuestra población femenina adulta fue del 1 %. Esta causa se reconoce de forma más explícita, y por lo tanto con mayor frecuencia, en los años recientes. Consideramos que nuestra serie muestra indicios de que es probable que un porcentaje (de cuantía desconocida) de situaciones como caídas casuales o precipitaciones, puedan en realidad traducir un trasfondo de violencia de género. Creemos que el abordaje de estos casos implica a un equipo multidisciplinar, ya que en su génesis intervienen factores socioculturales y psicológicos

Objective. The authors review the main clinical and social features of a series of women aged above 18 years who suffered spinal cord injury in setting of gender violence. Material and methods. Study period: 1992-2004. Variables: age, lesion level, ASIA classification, injury mechanism, sociocultural level, legal aspects. Results. The total number of women admitted to our hospital was 689, 7 of whom had been injured as a result of domestic violence. Mean age: 32 years (range: 23-40). Level of spinal cord injury: cervical (4), dorsal (2), lumbar (1). ASIA classification: complete (6), incomplete (1). The direct causes were: aggression by knife (3), precipitation (3), and provoked car accident (1). Two women were pregnant at the time of the aggression. Nationality: Spanish (3), foreigner (4). Maximum peak incidence was in 2002 (4 cases). In all cases the social level was low. It was observed that all women, in spite of evidence, did not initially admit a problem of domestic violence by a partner as the real cause of their lesion. Conclusions. The incidence of gender violence as a cause of spinal cord injury in our female population was 1 %. It seems that this cause is recognized more frequently in recent years. It is probable that an undetermined number of accidental falls or precipitations may actually be generated in a background of gender violence. We think that a multidisciplinary approach is warranted as social and psychological factors play an important role in these patients

[Clinical characteristics of spinal cord injury caused by infection]. / Características clínicas de la lesión medular de causa infecciosa.

INTRODUCTION: Infections account for 3% of all non-traumatic spinal cord injuries. The demographic distribution and clinical course are still not fully understood in these patients. AIMS: The aim of this study was to determine the clinical-epidemiological characteristics and clinical course in patients with infectious spinal cord injury referred to our centre. PATIENTS AND METHODS: A retrospective study (over the period 1997-2003) was carried out. Variables examined included age, sex, type of injury, aetiology, causing agent, ASIA classification on admission and discharge. RESULTS: N = 27 (8% of the total number of non-traumatic spinal cord injuries). Mean age: 37.3 years (range: 14-75). Higher prevalence was found between the ages of 20 and 39 years (48.1%) and in males (70.4%). A prevalence of dorsal injuries (59.3%) was also observed. On hospital admission most of the injuries were incomplete (70.4%) and this figure increased to 77.8% on discharge. Spondylodiscitis was the most frequent cause (51.9%) and Staphylococcus aureus was found to be the most common microbiological causing agent. The greatest prevalence of complete injuries was observed in cases of dorsal injuries (43.75%). All cases of tuberculosis were situated in the dorsal region (p < 0.05). CONCLUSIONS: In our care centre, non-traumatic spinal cord injuries of an infectious origin seem to be most often caused by spondylodiscitis due to S. aureus, with a higher incidence in the dorsal region. They predominantly affect males in their thirties and forties, and usually give rise to incomplete injuries.

Lesión medular de causa osteoarticular / Spinal cord injury due to osteoarticular causes

Introducción. La lesión medular es una de las discapacidades más trágicas, debido a sus secuelas. La incidencia varía entre 9 y 53 lesionados por millón de habitantes. Las lesiones por causa no traumática suponen un número significativo de casos, pero no se han estudiado bien. Nuestro objetivo fue el estudio descriptivo de las lesiones medulares no traumáticas, de tipo osteoarticular, en nuestro centro. Pacientes y métodos. Se realizó un estudio retrospectivo de las historias clínicas de los pacientes remitidos a nuestro centro por lesión medular no traumática, degenerativa, en el período comprendido entre 1998 y 2002. Evaluamos la edad, el sexo, la clasificación de la lesión neurológica según la ASIA (American Spinal Injury Association) en el momento del ingreso y en el del alta, la afectación completa (motora y sensitivo) o incompleta, el nivel de la lesión y la causa que la provoca. Resultados. Encontramos 365 historias de pacientes con lesión medular no traumática. De ellos, 45 (12,3%) correspondían a lesiones de tipo osteoarticular. El grupo de edad y la causa más frecuente fueron 56-69 años y estenosis de canal, respectivamente. Se observó un predominio del sexo masculino y de lesión incompleta. El nivel neurológico más afectado fue el cervical. Conclusión. En nuestro centro, la lesión medular no traumática de causa osteoarticular se produce predominantemente por estenosis de canal, con mayor incidencia cervical. Se produce preferiblemente en varones de 56-69 años y suele dar lugar a lesiones incompletas. Dichos datos se correlacionan con los observados por otros autores (AU)

Introduction. Spinal cord injury is one of the most tragic disabilities, because of its sequelae. Incidence ranges between 9 and 53 cases per million inhabitants. Injuries due to non-traumatic causes account for a significant number of cases but they have not been studied in depth. Our objective was to conduct a descriptive study of osteoarticular-type nontraumatic spinal cord injuries in our centre. Patients and methods.We carried out a retrospective study of the medical records of patients referred to our centre because of non-traumatic, degenerative spinal cord injury between 1998 and 2002. We evaluated age, sex, neurological injury classification according to the ASIA (American Spinal Injury Association) on admission and on discharge, complete (motor and sensory) or incomplete involvement, level of the injury and how it was caused. Results. We found 365 records of patients with non-traumatic spinal injuries, 45 (12.3%) of which were osteoarticular- type injuries. The age group and most frequent cause were 56-69 years and canal stenosis, respectively. There was seen to be a predominance of males and incomplete injury. The neurological level that was most affected was the cervical spine. Conclusions. In our centre, the majority of cases of non-traumatic spinal cord injury due to osteoarticular causes are produced by canal stenosis, with a greater incidence in the cervical spine. It is more often observed in 56 to 69-year-old males and usually involves incomplete injuries. Such data match those obtained by other authors (AU)

Características clínicas de la lesión medular de causa infecciosa / Clinical characteristics of spinal cord injury caused by infection

Introducción. La etiología infecciosa representa el 3% de la lesión medular no traumática. La distribución demográfica y evolución clínica no son completamente conocidas en estos pacientes. Objetivos. Conocer las características clinicoepidemiológicas y la evolución en pacientes con lesión medular infecciosa remitidos a nuestro centro. Pacientes y métodos. Estudio retrospectivo (período 1997-2003). Variables: edad, sexo, tipo de lesión, etiología, agente causal, clasificación ASIA al ingreso y al alta. Resultados. N = 27 (8% del total de lesiones medulares no traumáticas). Edad media: 37,3 años (rango: 14-75). Mayor prevalencia en edades comprendidas entre 20 y 39 años (48,1%) y en varones (70,4%). Se observa una mayor prevalencia de lesiones dorsales (59,3%). Al ingreso la mayoría de lesiones fueron incompletas (70,4%), y aumentaron hasta un 77,8% al alta. La espondilodiscitis fue la causa más frecuente (51,9%), y el Staphylococcus aureus, el agente microbiológico etiológico más frecuente. La mayor prevalencia de lesiones completas se observa en lesiones dorsales (43,75%). El 100% de los casos de tuberculosis asentaron en la región dorsal (p < 0,05). Conclusiones. En nuestro centro, la lesión medular de causa no traumática de etiología infecciosa parece estar producida en mayor frecuencia por espondilodiscitis por S. aureus, con una mayor incidencia en la región dorsal. Afecta predominantemente a varones en la tercera y cuarta décadas de la vida y suele producir lesiones incompletas (AU)

Introduction. Infections account for 3% of all non-traumatic spinal cord injuries. The demographic distribution and clinical course are still not fully understood in these patients. Aims. The aim of this study was to determine the clinicalepidemiological characteristics and clinical course in patients with infectious spinal cord injury referred to our centre. Patients and methods. A retrospective study (over the period 1997-2003) was carried out. Variables examined included age, sex, type of injury, aetiology, causing agent, ASIA classification on admission and discharge. Results. N = 27 (8% of the total number of nontraumatic spinal cord injuries). Mean age: 37.3 years (range: 14-75). Higher prevalence was found between the ages of 20 and 39 years (48.1%) and in males (70.4%). A prevalence of dorsal injuries (59.3%) was also observed. On hospital admission most of the injuries were incomplete (70.4%) and this figure increased to 77.8% on discharge. Spondylodiscitis was the most frequent cause (51.9%) and Staphylococcus aureus was found to be the most common microbiological causing agent. The greatest prevalence of complete injuries was observed in cases of dorsal injuries (43.75%). All cases of tuberculosis were situated in the dorsal region (p < 0.05). Conclusions. In our care centre, non-traumatic spinal cord injuries of an infectious origin seem to be most often caused by spondylodiscitis due to S. aureus, with a higher incidence in the dorsal region. They predominantly affect males in their thirties and forties, and usually give rise to incomplete injuries (AU)

[Spinal cord injury due to osteoarticular causes]. / Lesión medular de causa osteoarticular.

INTRODUCTION: Spinal cord injury is one of the most tragic disabilities, because of its sequelae. Incidence ranges between 9 and 53 cases per million inhabitants. Injuries due to non-traumatic causes account for a significant number of cases but they have not been studied in depth. Our objective was to conduct a descriptive study of osteoarticular-type non-traumatic spinal cord injuries in our centre. PATIENTS AND METHODS: We carried out a retrospective study of the medical records of patients referred to our centre because of non-traumatic, degenerative spinal cord injury between 1998 and 2002. We evaluated age, sex, neurological injury classification according to the ASIA (American Spinal Injury Association) on admission and on discharge, complete (motor and sensory) or incomplete involvement, level of the injury and how it was caused. RESULTS: We found 365 records of patients with non-traumatic spinal injuries, 45 (12.3%) of which were osteoarticular-type injuries. The age group and most frequent cause were 56-69 years and canal stenosis, respectively. There was seen to be a predominance of males and incomplete injury. The neurological level that was most affected was the cervical spine. CONCLUSIONS: In our centre, the majority of cases of non-traumatic spinal cord injury due to osteoarticular causes are produced by canal stenosis, with a greater incidence in the cervical spine. It is more often observed in 56 to 69-year-old males and usually involves incomplete injuries. Such data match those obtained by other authors.

Independencia física en pacientes parapléjicos / Physical independence in paraplegic patients

El paciente parapléjico presenta una limitación funcional importante que le dificulta la integración dentro de la sociedad. En este trabajo se pretende demostrar que, a pesar de ello, estos pacientes pueden lograr una aceptable independencia física. Se han estudiado 51 pacientes con lesión medular dorsal o lumbar ingresados por primera vez en el Hospital Nacional de Parapléjicos durante un año. Se valoró mediante una encuesta domiciliaria el grado de independencia física y la posibilidad de reinserción laboral. Se tomó como referencia el número de horas al día que el paciente precisaba cuidados de otra persona. Se observó que el 44,2 por ciento de los lesionados medulares dorsales y el 62,5 por ciento de los lumbares presentaban una adecuada autonomía personal. El 50 por ciento de los lumbares tenían un nivel de ocupación adecuado (trabajo remunerado, formación académica, ocio). El 75 por ciento de los lumbares presentaban buena movilidad: accesibilidad al hogar y dentro de él, salidas fuera del domicilio, transporte independiente. En conclusión, se ha visto que los pacientes parapléjicos son capaces de lograr un alto grado de independencia. Los lesionados lumbares gozan de una mayor movilidad, que les permite una mejor reinserción socio-laboral (AU)