A DM1 family with interruptions associated with atypical symptoms and late onset but not with a milder phenotype.

Carriage of interruptions in CTG repeats of the myotonic dystrophy protein kinase gene has been associated with a broad spectrum of myotonic dystrophy type 1 (DM1) phenotypes, mostly mild. However, the data available on interrupted DM1 patients and their phenotype are scarce. We studied 49 Spanish DM1 patients, whose clinical phenotype was evaluated in depth. Blood DNA was obtained and analyzed through triplet-primed polymerase chain reaction (PCR), long PCR-Southern blot, small pool PCR, AciI digestion, and sequencing. Five patients of our registry (10%), belonging to the same family, carried CCG interruptions at the 3'-end of the CTG expansion. Some of them presented atypical traits such as very late onset of symptoms ( > 50 years) and a severe axial and proximal weakness requiring walking assistance. They also showed classic DM1 symptoms including cardiac and respiratory dysfunction, which were severe in some of them. Sizes and interrupted allele patterns were determined, and we found a contraction and an expansion in two intergenerational transmissions. Our study contributes to the observation that DM1 patients carrying interruptions present with atypical clinical features that can make DM1 diagnosis difficult, with a later than expected age of onset and a previously unreported aging-related severe disease manifestation.

Distinctive Olfactory Pattern in Parkinson's Disease and Non-Neurodegenerative Causes of Hyposmia.

BACKGROUND: Olfactory dysfunction is common in Parkinson's disease (PD). The characteristics of the hyposmia in PD have not been well defined. OBJECTIVE: To characterize the pattern of the olfactory deficit in PD and in other non-neurodegenerative aetiologies of hyposmia. METHODS: We evaluated 36 PD patients, 20 patients with hyposmia secondary to acute respiratory infection (ARI), and 19 patients with hyposmia secondary to traumatic brain injury (TBI). For comparison purposes, we included a group of 15 controls age and sex matched with PD patients. PD patients were classified based on disease duration and severity in de novo PD, and PD with and without chronic levodopa-related complications. The Barcelona Smell Identification Test was applied to all participants. RESULTS: For the first cranial nerve odours, PD patients scored lower than controls on smell detection (85.28 vs. 97.67%, p = 0.006), definition (79.58 vs. 93.33%, p = 0.007), recognition (63.33 vs. 81%, p = 0.020), and forced choice (58.06 vs. 82%, p < 0.001). Compared with ARI, forced choice was significantly better in PD patients (p < 0.001), but no differences were found regarding other olfactory characteristics. TBI patients showed significantly lower scores than the other study groups in all the olfaction items. For the fifth cranial nerve odours, recognition (p = 0.003) and identification (p = 0.019) were lower in the TBI group than in the others. No differences were found among PD subgroups regarding any olfactory characteristic. CONCLUSIONS: A differential pattern of hyposmia was observed in PD patients compared to other non-neurodegenerative aetiologies. Further studies with larger samples should replicate our results.

Adding pregabalin or gabapentin for the management of community-treated patients with painful diabetic peripheral neuropathy: a comparative cost analysis.

BACKGROUND AND OBJECTIVE: Painful diabetic peripheral neuropathy (pDPN) is a highly prevalent complication of diabetes mellitus, which is associated with substantial costs to society and national health systems. This economic impact varies depending on the therapeutic management provided to patients. The objective of this study was to compare healthcare resource utilization and costs among pDPN patients newly treated with pregabalin or gabapentin in routine medical practice. METHODS: We performed a retrospective medical records study of pDPN patients newly treated with pregabalin or gabapentin as an add-on therapy who are covered by the Badalona Serveis Assistencials (BSA) health plan, a healthcare provider in Spain, from 2006 to 2009. Healthcare resource utilization and days off work were assessed. The societal perspective was used to estimate costs. RESULTS: Three hundred and ninety-five records were eligible for analysis: 227 (57.5%) included pregabalin and 168 (42.5%) gabapentin. Mean (standard deviation) concomitant use of analgesics throughout the study was higher in the gabapentin cohort [3.9 (2.2) vs. 3.1 (2.1); p < 0.05], mainly due to greater use of non-narcotics (78.0 vs. 71.8%; p < 0.05) and opioids (32.7 vs. 28.6%; p < 0.05). Healthcare costs accounted for 59.2% of total costs, of which 71.9% occurred in primary care, with a mean cost per patient of €2,476 (year 2010 values). Adjusted mean (95% CI) total costs were significantly lower in pregabalin-treated patients [€2,003 (1,427-2,579)] than in gabapentin-treated patients [€3,127 (2,463-3,790)] (p = 0.013), mainly due to lower healthcare costs [€1,312 (1,192-1,432) vs. €1,675 (1,537-1,814); p < 0.001]. CONCLUSIONS: Adding pregabalin to existing pDPN therapy resulted in lower total healthcare costs and lower resource utilization than resulted from adding gabapentin.

Eficacia de un protocolo para el diagnóstico y tratamiento del síncope en una población no seleccionada / Efficacy of a protocol for the diagnosis and management of syncope in an unselected population

Fundamento y objetivo: Valorar la eficacia de un protocolo basado en las Guías Europeas para el manejo y diagnóstico del síncope y aplicado por un equipo multidisciplinario en una población no seleccionada.Pacientes y método: Fueron estudiados prospectivamente 402 pacientes no seleccionados en un hospital comarcal entre noviembre de 2003 y noviembre de 2008 mediante un protocolo basado en las Guías Europeas. Resultados:Se consiguió el diagnóstico en un 83,3% de los pacientes y un 26,6% precisaron ingreso hospitalario. Por cada 100 casos, se calculó el número de tests diagnósticos efectuados y su rendimiento (porcentaje de positivos/efectuados): tabla basculante 31-rendimiento 62,4%, ecocardiografía 17-8,3%, Holter 16-13,2%, tomografía computarizada (TC) craneal 5,2-0%, ergometría 1,9-0%, TC tórax 1,4-16%, estudio electrofisiológico 1,2-33%, Holter insertable 0,7-33%.Conclusiones: Este estudio muestra un alto porcentaje de diagnósticos con un bajo número de pruebas diagnósticas, destacando el rendimiento de la tabla basculante. El estudio de pacientes no seleccionados de síncope mediante un protocolo basado en las Guías Europeas y aplicado por un equipo multidisciplinario fue muy efectivo (AU)

Background and objective: To evaluate the efficacy of a protocol based on European guidelines for the management and diagnosis of syncope applied by a multidisciplinary team in unselected patients. Patients and methods: 402 unselected patients were followed prospectively in a second-level country hospital, between November 2003 and November 2008 with a protocol based on European Guidelines.Result: : Syncope was diagnosed in 83.3% of patients and 26.6% required hospitalization. For every 100 cases, the number of tests carried out and their performance (percentage of positive diagnostic tests/number of tests carried out) was calculated. Tilt test: 31 and performance: 62.4%, Doppler-echocardiography. 17-8.3%, Holter 16-13.2%, cranial CT 5.2-0%, ergometry 1.9-0%, chest CT 1.4-16%, EPS 1.2-33%, ILR 0.7-33%.Conclusions: This study shows a high percentage of diagnoses with low number of tests carried out, emphasizing the performance of tilt test. The study of unselected patients with a protocol based on European Guidelines for the management and diagnosis of syncope applied by a multidisciplinary team was very effective (AU)

[Efficacy of a protocol for the diagnosis and management of syncope in an unselected population]. / Eficacia de un protocolo para el diagnóstico y tratamiento del síncope en una población no seleccionada.

BACKGROUND AND OBJECTIVE: To evaluate the efficacy of a protocol based on European guidelines for the management and diagnosis of syncope applied by a multidisciplinary team in unselected patients. PATIENTS AND METHODS: 402 unselected patients were followed prospectively in a second-level country hospital, between November 2003 and November 2008 with a protocol based on European Guidelines. RESULT: Syncope was diagnosed in 83.3% of patients and 26.6% required hospitalization. For every 100 cases, the number of tests carried out and their performance (percentage of positive diagnostic tests/number of tests carried out) was calculated. Tilt test: 31 and performance: 62.4%, Doppler-echocardiography. 17-8.3%, Holter 16-13.2%, cranial CT 5.2-0%, ergometry 1.9-0%, chest CT 1.4-16%, EPS 1.2-33%, ILR 0.7-33%. CONCLUSIONS: This study shows a high percentage of diagnoses with low number of tests carried out, emphasizing the performance of tilt test. The study of unselected patients with a protocol based on European Guidelines for the management and diagnosis of syncope applied by a multidisciplinary team was very effective.