Epidemiology of multiple sclerosis and vitamin D levels in Lanzarote, Canary Islands, Spain.

BACKGROUND: Low levels of 25-hydroxyvitamin D (25(OH)D) have been described as one of the possible environmental factors involved in multiple sclerosis (MS) etiopathogenesis. OBJECTIVES: To study epidemiology of MS and 25(OH)D serum levels of patients in Lanzarote (29°02'06″N), a region with high ultraviolet radiation values during the whole year which is located far apart from Iberian Peninsula (36°-43°N), but without genetic/ethnic differences with it. METHODS: Incidence in Lanzarote was assessed according to McDonald 2005 criteria between January 2008 and December 2015 and prevalence date was 12/31/15. For 25(OH)D serum levels analyses, samples from 60 MS patients and 60 healthy donors (HD) were collected monthly in a one-year prospective study. RESULTS: The prevalence of MS in Lanzarote was 50.0/100,000 and the incidence per year was 2.5/100,000. Median 25(OH)D levels values were 29.1 ng/ml for MS patients (maximum = 36.1 ng/ml, minimum = 22.5 ng/ml) and 27.1 ng/ml for HD (maximum = 34.8 ng/ml, minimum = 22.8 ng/ml). There were no significant differences between 25(OH)D serum levels between MS patients and HD. CONCLUSIONS: Lanzarote possesses lower prevalence and incidence values than peninsular Spain. Moreover, 25(OH)D serum levels do not differ between MS patients and HD.

Treinamento de resistência da musculatura da panturrilha em um caso atípico de insuficiência venosa clínica / Training of calf muscle endurance ina case of atypical chronic venous failure

As complicações da insuficiência venosa crônica (IVC) estão relacionadas com a ineficiência da bomba muscular da panturrilha.Permanece incerto, porém, se pacientes que apresentam IVC sintomática, mas função de panturrilha pouco comprometida, poderiam se beneficiar do treino muscular. Apresentarum relato de caso, no qual foi realizado umtreinamento de resistência da musculaturada panturrilha em uma mulher com apresentação não usual da IVC. Mulher, 55 anos,com histórico de cirurgia de varizes, sintomas de queimação e peso na perna esquerda,foi avaliada pelo shuttle walking test (SWT),pelo heel rise test (HRT), pelo questionário SF-36 e pela pletismografia a ar, antes e após 15 semanas de treinamento físico.O treinamento consistiu em exercícios de resistência muscular da panturrilha; treino aeróbio de moderada intensidade (70% a 75%da FC pico do teste ergométrico), exercícios de resistência muscular com os membrosinferiores elevados e exercícios de alongamento estático envolvendo a musculatura treinada. Houve diminuição da fração de volume residual de 31,2% para 24,5%. Houve melhora da distância no SWT, desempenhono HRT e da qualidade de vida relacionada à saúde. A reabilitação pode ser benéfica mesmo em pacientes com apresentação não usual da IVC .

The complications of chronic venous insuficiency (CVI) are related to ineficiencyof the calf muscle pump. However it stillremains uncertain whether patients withCVI but with slightly impaired calf musclefunction could benefit from the calf muscletraining. to present the results of a resistancetraining of the calf muscle in a woman withan unusual presentation of CVI. Woman, 55years, submitted to a varicose vein surgery,with complaints of burning and weight in the left leg was evaluated by shuttle walkingtest (SWT), heel rise test (HRT), SF-36 questionnaire and air plethysmography, beforeand after 15 weeks of training: muscular resistance of the calf; aerobic training at moderate intensity (70-75% HR peak treadmill test) and static stretching exercises. Therewas a decrease in residual volume fractionfrom 31.2% to 24.5%. There was improvement of distance on SWT, performance onHRT and quality of life related to health.The physical therapy rehabilitation may bebeneficial even in patients with an unusualpresentation of CVI.

[Molecular characterization of heterozygous beta-thalassemia in Lanzarote, Spain]. / Caracterización molecular de la betatalasemia en Lanzarote.

BACKGROUND AND OBJECTIVE: The aim of this study was to determine the molecular defects of heterozygous beta thalassaemia and to ascertain their distribution in Lanzarote. PATIENTS AND METHOD: Molecular characterization was achieved by real time polymerase chain reaction (RT-PCR LightCycler, Roche), PCR-ARMS (PCR-amplification reaction mutations system) and DNA sequencing on an automated DNA sequencer. RESULTS: Two hundred forty-three heterozygous beta thalassaemia carriers were included between July 1991 and February 2007. RT-PCR detected the molecular defect in 81% of the beta thalassaemia chromosomes analyzed [113 codon CD 39 (C --> T); 41 IVS-1-nt-110 (G --> A), 25 IVS 1-nt-1 (G --> A) and 19 IVS 1-nt-6 (T --> C)]. The remaining 12 molecular defects included the deletion 619 bp (7.8%) and the mutations -28 (A --> G), IVS1-nt-2 (T --> G), CD 41/42 (-TTCT), CD 8/9 (+G), CD 51 (-C), CD 22 (G --> T) and CD 24 (T --> A), CD 67 (-TG) and the novel mutation CD 20/21-TGGA. CONCLUSIONS: The distribution of the mutations is similar to that found in the Mediterranean area. The increasing migratory flow received in the Canary Islands may explain the emergence of new mutations not reported before in our area.

Caracterización molecular de la betatalasemia en Lanzarote / Molecular characterization of heterozygous b-thalassemia in Lanzarote, Spain

Fundamento y objetivo: Caracterizar los defectos moleculares y estudiar su distribución en los portadores de betatalasemia de Lanzarote. Pacientes y método: El estudio molecular del gen beta de la globina se llevó a cabo con la técnica de reacción en cadena de la polimerasa (PCR) en tiempo real (RT-PCR LyghtCycler, Roche), PCR con amplificación de alelos específicos (PCR-ARMS) y secuenciación automática del ADN del gen beta de la globina. Resultados: Se incluyó en el estudio a 243 portadores diagnosticados de betatalasemia heterocigota entre julio de 1991 y febrero de 2007. La RT-PCR identificó la lesión molecular en el 81% de los cromosomas [113 codón CD 39 (C * T); 41 IVS-1-nt-110 (G * A), 25 IVS 1-nt-1 (G * A) y 19 IVS 1-nt-6 (T * C)]. Las 12 alteraciones moleculares restantes incluyeron la deleción 619 bp (7,8%) y las mutaciones ­28 (A * G), IVS1-nt-2 (T * G), CD 41/42 (­TTCT), CD 8/9 (+G), CD 51 (­C), CD 22 (G * T), CD 24 (T * A), CD 67 (­TG), además de una nueva mutación CD 20/21-TGGA. Conclusiones: La distribución de las mutaciones de la betatalasemia heterocigota en Lanzarote es similar a la descrita en la zona mediterránea. El aumento de los flujos migratorios a la comunidad canaria puede explicar la presencia de mutaciones no descritas antes en nuestra comunidad

Background and objective: The aim of this study was to determine the molecular defects of heterozygous b thalassaemia and to ascertain their distribution in Lanzarote. Patients and method: Molecular characterization was achieved by real time polymerase chain reaction (RT-PCR LightCycler, Roche), PCR-ARMS (PCR-amplification reaction mutations system) and DNA sequencing on an automated DNA sequencer. Results: Two hundred forty-three heterozygous b thalassaemia carriers were included between July 1991 and February 2007. RT-PCR detected the molecular defect in 81% of the b thalassaemia chromosomes analyzed [113 codon CD 39 (C * T); 41 IVS-1-nt-110 (G * A), 25 IVS 1-nt-1 (G * A) and 19 IVS 1-nt-6 (T * C)]. The remaining 12 molecular defects included the deletion 619 bp (7.8%) and the mutations ­28 (A * G), IVS1-nt-2 (T * G), CD 41/42 (­TTCT), CD 8/9 (+G), CD 51 (­C), CD 22 (G * T) and CD 24 (T * A), CD 67 (­TG) and the novel mutation CD 20/21-TGGA. Conclusions: The distribution of the mutations is similar to that found in the Mediterranean area. The increasing migratory flow received in the Canary Islands may explain the emergence of new mutations not reported before in our area