RESUMEN
The aim of this study was to search for the frequency of late onset Pompe disease (LOPD) among patients who had a myopathy with unknown diagnosis registered in the pre-diagnostic part of a novel registry for LOPD within a collaborative study of neurologists working throughout Turkey. Included in the study were 350 patients older than 18 years who have a myopathic syndrome without a proven diagnosis by serum creatine kinase (CK) levels, electrodiagnostic studies, and/or muscle pathology, and/or genetic tests for myopathies other than LOPD. Acid alpha glucosidase (GAA) in dried blood spot was measured in each patient at two different university laboratories. LOPD was confirmed by mutation analysis in patients with decreased GAA levels from either both or one of the laboratories. Pre-diagnostic data, recorded by 45 investigators from 32 centers on 350 patients revealed low GAA levels in a total of 21 patients; from both laboratories in 6 and from either one of the laboratories in 15. Among them, genetic testing proved LOPD in 3 of 6 patients and 1 of 15 patients with decreased GAA levels from both or one of the laboratories respectively. Registry was transferred to Turkish Neurological Association after completion of the study for possible future use and development. Our collaborative study enabled collection of a considerable amount of data on the registry in a short time. GAA levels by dried blood spot even from two different laboratories in the same patient may not prove LOPD. LOPD seemed to be rarer in Turkey than in Europe.
Asunto(s)
Enfermedad del Almacenamiento de Glucógeno Tipo II/epidemiología , Edad de Inicio , Creatina Quinasa/sangre , Bases de Datos Factuales , Enfermedad del Almacenamiento de Glucógeno Tipo II/sangre , Enfermedad del Almacenamiento de Glucógeno Tipo II/diagnóstico , Humanos , Tamizaje Masivo , Prevalencia , Sistema de Registros , Turquía/epidemiologíaRESUMEN
AIM: Sciatic nerve injury is the most frequent and serious complication of intramuscular gluteal injection. This study aims to highlight the incidence and causes of this continuing problem and to discuss the relevant literature. < p < MATERIAL and METHODS: A total of 217 subjects who were diagnosed with sciatic nerve injury in our neurophysiology laboratory between 2003 and 2013 were examined. Sensory and motor transmission studies and needle electromyography were performed by conventional methods in the two lower legs and the results were compared between each leg. RESULTS: Of the subjects who experienced a sciatic injury secondary to intramuscular injection, 59 (27.2%) were female and 158 (72.8%) were male. In all subjects, the dorsogluteal site of the buttocks was selected for intramuscular injection. Sciatica occurred on the right side in 91 subjects, on the left side in 125, and bilaterally in one. The peroneal nerve was more affected than the tibial nerve. The most used agents were non-steroidal anti-inflammatory drugs. According to follow-up electromyography findings of 103 subjects, significant sequelae remained in 2/3 of cases. CONCLUSION: The occurrence of sciatic neuropathy after gluteal injection causing permanent sequelae and leading to medicolegal problems is relatively rare. We suggest a double quadrant drawing technique in each gluteal region. We also draw attention to this issue with postgraduate and in-service training programs of medical staff, and providing continuity in education can reduce this serious complication.