RESUMEN
Lambert-Eaton myasthenic syndrome (LEMS) is an autoimmune disease of the presynaptic neuromuscular junction, typically occurring in adults as a paraneoplastic syndrome. Only rare cases have been reported in childhood. In most childhood cases, malignancies have not been detected but a propensity to autoimmune disease was noticed. Nevertheless, little is known about genetic factors that may contribute to the susceptibility of an individual to develop LEMS. We report on a 13-year-old girl, known with the Xp11.22-p11.23 duplication syndrome, who presented with severe non-paraneoplastic LEMS. The potential role of this microduplication syndrome in the development of LEMS is explored. Previous literature review of twelve Xp11.2 duplication syndrome patients showed that three of them suffered from various autoimmune diseases. The common duplicated region in those three patients and the presented case comprises 12 disease-associated genes including the FOXP3 (Forkhead Box P3) and WAS (Wiskott-Aldrich syndrome) gene, both implicated in immune function. However, it is unclear whether increased gene dosage of one or both of these genes can cause susceptibility to autoimmune diseases. In conclusion, the presented case emphasizes that autoimmune disease is a recurrent feature of the Xp11.2 duplication syndrome, which should be considered in the follow-up of these patients. The exact mechanism underlying this autoimmune propensity remains to be elucidated.
Asunto(s)
Enfermedades Autoinmunes/genética , Trastornos de los Cromosomas/genética , Duplicación Cromosómica/genética , Factores de Transcripción Forkhead/genética , Enfermedades Genéticas Ligadas al Cromosoma X/genética , Predisposición Genética a la Enfermedad/genética , Síndrome Miasténico de Lambert-Eaton/genética , Mutación/genética , Adolescente , Enfermedades Autoinmunes/diagnóstico , Trastornos de los Cromosomas/complicaciones , Trastornos de los Cromosomas/diagnóstico , Discapacidades del Desarrollo/complicaciones , Discapacidades del Desarrollo/diagnóstico , Discapacidades del Desarrollo/genética , Femenino , Enfermedades Genéticas Ligadas al Cromosoma X/complicaciones , Enfermedades Genéticas Ligadas al Cromosoma X/diagnóstico , Pruebas Genéticas , Humanos , Síndrome Miasténico de Lambert-Eaton/complicaciones , Síndrome Miasténico de Lambert-Eaton/diagnósticoRESUMEN
OBJECTIVES: Adherence to diabetes management tasks in type 1 diabetes mellitus (T1DM) patients deteriorates during puberty. This causes glycemic dysregulation, which accelerates the development of long-term complications. METHODS: The data of 25 poorly regulated T1DM-patients were compared before and 3 and 9 months after a psycho-educational program. Data were extracted from patient's records. The psycho-educational program consisted of three sessions for the patients and one for the parents in a 3-month period. RESULTS: HbA(1c)-levels at baseline (10.0 +/- 0.72%), decreased by 0.65% after 9 months follow-up (p = 0.08). A subgroup of 15 patients showed a clinical significant HbA(1c)-reduction of > or = 0.5% at 9 months follow-up (subgroup A), with a mean reduction of 1.6%. CONCLUSIONS: These encouraging results show that a psychoeducational program can be of benefit in improving HbA(1c)-levels in poorly regulated adolescents with T1DM. More research with a larger population is necessary to evaluate the value of psycho-educational programs in this age-group.
Asunto(s)
Diabetes Mellitus Tipo 1/sangre , Diabetes Mellitus Tipo 1/terapia , Hemoglobina Glucada/análisis , Educación del Paciente como Asunto , Evaluación de Programas y Proyectos de Salud , Adolescente , Glucemia/análisis , Glucemia/metabolismo , Niño , Diabetes Mellitus Tipo 1/psicología , Consejo Dirigido/métodos , Femenino , Estudios de Seguimiento , Humanos , Masculino , Países Bajos , Psicoterapia/métodos , Estudios RetrospectivosRESUMEN
Ellis-van Creveld (EvC) syndrome is a congenital malformation syndrome with marked growth retardation. In this study, specific growth charts for EvC patients were derived to allow better follow-up of growth and earlier detection of growth patterns unusual for EvC. With the use of 235 observations of 101 EvC patients (49 males, 52 females), growth charts for males and females from 0 to 20 years of age were derived. Longitudinal and cross-sectional data were collected from an earlier review of growth data in EvC, a database of EvC patients, and from recent literature. To model the growth charts, the GAMLSS package for the R statistical program was used. Height of EvC patients was compared to healthy children using Dutch growth charts. Data are presented both on a scale for age and on a scale for the square root of age. Compared to healthy Dutch children, mean height standard deviation score values for male and female EvC patients were -3.1 and -3.0, respectively. The present growth charts should be useful in the follow-up of EvC patients. Most importantly, early detection of growth hormone deficiency, known to occur in EvC, will be facilitated.