Prevalencia de hemofilia en seis provincias cubanas / Prevalence of hemophilia in six cuban provinces

Introducción:la hemofilia es una enfermedad hemorrágica con una incidencia casi constante para diferentes poblaciones. Desde la década del 80 del pasado siglo, en el Instituto de Hematología e Inmunología se creó un grupo multidisciplinario de especialistas para la atención del paciente con hemofilia. En la actualidad existe un programa nacional de atención integral al hemofílico que permite el monitoreo continuo y el tratamiento adecuado. Objetivo: conocerla prevalencia de la hemofilia en Cuba. Métodos:se incluyeron los datos de 229 pacientes procedentes de 5 provincias cubanas y el municipio especial Isla de la Juventud (según la división política-administrativa previa), que representan el 58,1 por ciento de los pacientes registrados. Los datos incluyeron aspectos demográficos, gravedad de la enfermedad, presencia de inhibidores y de infecciones transmitidas por las transfusiones. Resultados: los pacientes con hemofilia A fueron 188 (82,10 por ciento) y 41 (17,90 por ciento) con hemofilia B. El 56,33 por ciento de los pacientes presentaron la enfermedad en forma severa, 24 por ciento moderada y 19,7 por ciento leve. Los inhibidores se encontraron en el 17,03 por ciento de los casos. La infección por el virus de inmunodeficiencia humana estuvo presente solamente e el 0,87 por ciento de los pacientes, y la hepatitis C en el 39,03 por ciento. La edad media al diagnóstico fue de 2.15 años. Conclusiones: la prevalencia general ajustada a la edad fue de 9,63 casos de hemofilia por 100 000 varones y la mayor prevalencia de pacientes se encontró en las edades entre 20 y 59 años(AU)

Introduction: hemophilia is an inherited bleeding disorder; its incidence is almost constant in different populations. Since the 80th decade a multidisciplinary group for the care of patients with hemophilia was created at the Instituto de Hematología e Inmunología. Nowadays a national comprehensive care program allows patients to receive a continuous monitoring and an effective treatment. Objective: to know prevalence of patients with hemophilia in Cuba. Results: data of 229 patients from 5 provinces and the special municipality Isla de la Juventud were included, which covered 58,71 percent of the total patients registered in Cuba. The information included demographic data, severity of hemophilia, presence of inhibitors and infection status for viral diseases. Hemophilia A patients were 188 (82.10 percent) and 41 (17.90 percent) with hemophilia B. The disease was severe in 56.33 percent of patients, moderate in 24 percent, and mild in 19.7percent . Inhibitors were present in 17.03 percent of the patient percents. Human immunodeficiency virus infection was present only in 0.87 percent of patients and hepatitis C virus infection in 39.03 percent. The mean age at diagnosis was 2.15 years. Conclusions: the general age-adjusted prevalence was 9.63 cases of hemophilia per 100 000 male and the main prevalence of patients was found in ages between 20 and 59 years(AU)

Prevalencia de hemofilia en seis provincias cubanas / Prevalence of hemophilia in six cuban provinces

Introducción:la hemofilia es una enfermedad hemorrágica con una incidencia casi constante para diferentes poblaciones. Desde la década del 80 del pasado siglo, en el Instituto de Hematología e Inmunología se creó un grupo multidisciplinario de especialistas para la atención del paciente con hemofilia. En la actualidad existe un programa nacional de atención integral al hemofílico que permite el monitoreo continuo y el tratamiento adecuado. Objetivo: conocerla prevalencia de la hemofilia en Cuba. Métodos:se incluyeron los datos de 229 pacientes procedentes de 5 provincias cubanas y el municipio especial Isla de la Juventud (según la división política-administrativa previa), que representan el 58,1 por ciento de los pacientes registrados. Los datos incluyeron aspectos demográficos, gravedad de la enfermedad, presencia de inhibidores y de infecciones transmitidas por las transfusiones. Resultados: los pacientes con hemofilia A fueron 188 (82,10 por ciento) y 41 (17,90 por ciento) con hemofilia B. El 56,33 por ciento de los pacientes presentaron la enfermedad en forma severa, 24 por ciento moderada y 19,7 por ciento leve. Los inhibidores se encontraron en el 17,03 por ciento de los casos. La infección por el virus de inmunodeficiencia humana estuvo presente solamente e el 0,87 por ciento de los pacientes, y la hepatitis C en el 39,03 por ciento. La edad media al diagnóstico fue de 2.15 años. Conclusiones: la prevalencia general ajustada a la edad fue de 9,63 casos de hemofilia por 100 000 varones y la mayor prevalencia de pacientes se encontró en las edades entre 20 y 59 años

Introduction: hemophilia is an inherited bleeding disorder; its incidence is almost constant in different populations. Since the 80th decade a multidisciplinary group for the care of patients with hemophilia was created at the Instituto de Hematología e Inmunología. Nowadays a national comprehensive care program allows patients to receive a continuous monitoring and an effective treatment. Objective: to know prevalence of patients with hemophilia in Cuba. Results: data of 229 patients from 5 provinces and the special municipality Isla de la Juventud were included, which covered 58,71 percent of the total patients registered in Cuba. The information included demographic data, severity of hemophilia, presence of inhibitors and infection status for viral diseases. Hemophilia A patients were 188 (82.10 percent) and 41 (17.90 percent) with hemophilia B. The disease was severe in 56.33 percent of patients, moderate in 24 percent, and mild in 19.7percent . Inhibitors were present in 17.03 percent of the patient percents. Human immunodeficiency virus infection was present only in 0.87 percent of patients and hepatitis C virus infection in 39.03 percent. The mean age at diagnosis was 2.15 years. Conclusions: the general age-adjusted prevalence was 9.63 cases of hemophilia per 100 000 male and the main prevalence of patients was found in ages between 20 and 59 years

Melatonin-induced methylation of the ABCG2/BCRP promoter as a novel mechanism to overcome multidrug resistance in brain tumour stem cells.

BACKGROUND: Current evidence indicates that a stem cell-like sub-population within malignant glioblastomas, that overexpress members of the adenosine triphosphate-binding cassette (ABC) family transporters, is responsible for multidrug resistance and tumour relapse. Eradication of the brain tumour stem cell (BTSC) compartment is therefore essential to achieve a stable and long-lasting remission. METHODS: Melatonin actions were analysed by viability cell assays, flow cytometry, quantitative PCR for mRNA expression, western blot for protein expression and quantitative and qualitative promoter methylation methods. RESULTS: Combinations of melatonin and chemotherapeutic drugs (including temozolomide, current treatment for malignant gliomas) have a synergistic toxic effect on BTSCs and A172 malignant glioma cells. This effect is correlated with a downregulation of the expression and function of the ABC transporter ABCG2/BCRP. Melatonin increased the methylation levels of the ABCG2/BCRP promoter and the effects on ABCG2/BCRP expression and function were prevented by preincubation with a DNA methyltransferase inhibitor. CONCLUSION: Our results point out a possible relationship between the downregulation of ABCG2/BCRP function and the synergistic toxic effect of melatonin and chemotherapeutic drugs. Melatonin could be a promising candidate to overcome multidrug resistance in the treatment of glioblastomas, and thus improve the efficiency of current therapies.

Neuromodulation of the posterolateral hypothalamus for the treatment of chronic refractory cluster headache: Experience in five patients with a modified anatomical target.

INTRODUCTION: Deep brain stimulation (DBS) of the posterior hypothalamus has been found to be effective in the treatment of refractory chronic cluster headache (CCH). METHODS: We report the long-term outcomes of five patients with refractory CCH on whom stimulation of a modified target of approximately 3 mm in radius, which included the posterolateral hypothalamus, the fasciculus mammillotegmentalis, the fasciculus mammillothalamicus and the fasciculus medialis telencephali, was performed. The stereotaxic coordinates were 4 mm from the third ventricle wall, 2 mm from behind the mid-intercommissural point and 5 mm from under the intercommissural line. RESULTS: All patients became pain-free for 1-2 weeks after the procedure, but then needed an average of 54 days to optimize stimulation parameters. After a mean follow-up of 33 months, two remain pain-free, two have an excellent response (>90% decrease in attack frequency) and in one the attacks have been reduced by half. There were no serious adverse events. Permanent myosis and euphoria/well-being feeling were seen in three patients. Other adverse events, such as diplopia, dizziness, global headache of cervical dystonia, were seen transiently related to an increase in stimulation parameters. Attacks reappeared transiently in two patients as a result of cable rupture and when the stimulator was disconnected. CONCLUSIONS: Our results supports the efficacy of DBS in very refractory CCH with a slightly modified hypothalamic target conceived to avoid the lateral ventricle wall so as to extend the stimulated brain area and to decrease the morbidity of potential haemorrhagic complications.

Therapeutic extradural cortical stimulation for Parkinson's Disease: report of six cases and review of the literature.

OBJECTIVES: We report our experience and results with extradural cortical stimulation (ECS) in the surgical treatment of Parkinson's Disease (PD). Besides, we review the literature supporting the use of this technique. MATERIALS AND METHODS: Six patients with advanced PD and exclusion criteria for Deep Brain Stimulation (DBS) were included in our ECS protocol. With the aid of functional MRI and somato-sensory evoked potentials monitoring, the motor cortex projection over the scalp was drawn. Finally, under local anesthesia a stimulation lead was placed in the epidural space overlying the central sulcus. RESULTS: Patients showed mild daily life activities improvement with a slightly lower levodopa equivalent dose, but UPDRS part III scores showed no significant modification. CONCLUSIONS: Despite ECS is a minimally invasive surgical technique, our results only support its use in selected patients with advanced PD, in whom this therapy may be modestly effective. More experimental studies regarding the neuromodulation of the basal ganglia-cortex loops are required to optimize its clinical application.

Colostrum and milk can transmit jaagsiekte retrovirus to lambs.

Ovine pulmonary adenocarcinoma (OPA) is a contagious disease caused by jaagsiekte sheep retrovirus (JSRV). In the three studies performed, we have obtained data of the importance of colostrum/milk (C/M) in the transmission of JSRV. In the first study, a group of sheep from a flock with a long history of OPA, samples from colostrum and peripheral blood leucocytes (PBLs) were collected. Two specific PCRs (U3-LTR and env of the JSRV) were carried out. Using U3PCR 8/34 sheep were positive in colostrum whereas with envPCR 7/34 were positive. From these animals only one was positive with U3PCR in the PBLs. Evidence of the transmission of JSRV infection by C/M was obtained in two more separate studies. In the second study, PBLs from five lambs from JSRV+ ewes and two from JSRV-ewes were tested by the U3PCR. They were fed C/M by their mothers during 3 months and slaughtered 7 months after birth. Three out of five lambs from the JSRV+ sheep become PBL positive at 3-4 months old and the other two were also positive at 4-6 months of age. One lamb of the JSRV-sheep became also PBL positive at an age of 3 months. In the third study, a group of lambs from JSRV negative mothers were fed with C/M from JSRV+ sheep and housed in separate unit. For comparison, another group of the same origin and maintained in another different unit, were fed with C/M containing a JSRV virus preparation. All lambs were blood sampled monthly and JSRV infection was detected as early as 15 days and several times onwards in both groups. Control groups fed with C/M from JSRV free flock and JSRV blood test negative sheep were always negative. Together these results indicate that suckling is an important natural transmission route for JSRV.

Propuesta de una nueva diana para la estimulación cerebral profunda en el trastorno obsesivo-compulsivo / A proposed new target for deep brain stimulation in obsessive-compulsive disorder

La incidencia del trastorno obsesivo-compulsivo (TOC) en la población general es del 1,5-3%, y secalcula que sólo un 40-60% de los pacientes tratados farmacológicamente tiene mejoría significativa, y un 10% de ellos es refractario a dicho tratamiento. Actualmente, el TOC tiene dos tipos de tratamiento neuroquirúrgico: uno ablativo (cingulotomía,capsulotomía) y otro neuromodulador –estimulación cerebral profunda (ECP)–. Desarrollo. Partiendo del hecho de que la fisiopatología del TOC consiste en una disfunción de las vías directa e indirecta que regulan el circuito límbico extrapiramidal,y de los resultados clínicos de tres pacientes con enfermedad de Parkinson y TOC que, tras recibir ECP en el núcleo subtalámico, han mejorado de las dos patologías, proponemos el área límbica del núcleo subtalámico como diana quirúrgicapara la ECP en el TOC. Las coordenadas estereotáxicas sugeridas serían: x, 8-9 mm lateral a la línea media comisura anterior-comisura posterior; y, 1 mm por delante del punto intermedio comisural; z, 3 mm por debajo de la línea media comisuraanterior-comisura posterior. Conclusión. Este artículo tiene como objetivo demostrar que la ECP bilateral de la parte límbica de los núcleos subtalámicos puede ser una alternativa para el tratamiento del TOC refractario a tratamiento farmacológico

The obsessive-compulsive disorder (OCD) has an incidence in general population of 1.5-3%. If we consider as a positive respond a diminution of the 25-35% in the symptoms of OCD according to the Y-BOCS, and we add thecognitive-behavioral therapy to the pharmacological treatment, only a 40-60% of treated patients would have significant improvement and a 10% of patients with OCD, would be refractory to all type of medical treatment. Development. Current neurosurgical techniques for resistant cases of OCD interrupt the connections between the frontal lobes and subcortical structures (cingulotomy, capsulotomy). These techniques are ablative and irreversible. It shows the importance of finding a less aggressive technique with better clinical results. Deep brain stimulation (DBS) is an alternative to traditional neurosurgery based in neuromodulation methods. It’s considered that the physiopathology of the OCD consists of a dysfunction of the direct and indirect vias that control the extrapiramidal limbic circuit. On the other hand, it had been obtained positiveresults after DBS of the subthalamic nucleus of three patients with Parkinson’s disease and OCD. Conclusion. This article has as target the demonstration that bilateral DBS of the limbic part of the subthalamic nucleus is an alternative for the treatmentof refractory OCD

Transmission and control implications of seroconversion to Maedi-Visna virus in Basque dairy-sheep flocks.

A retrospective analysis of seroconversion to Maedi-Visna virus (MVV) was carried out for 10 infected semi-intensively reared dairy-sheep flocks that were tested annually between 1994 and 1999. Four of the flocks raised replacement lambs artificially with bovine colostrum and milk replacement to avoid lactogenic MVV infection but did not prevent aerosol contact between replacements and other sheep in the flock. Flock culling percentages ranged between 14 and 25% and in eight flocks the number of sheep that seroconverted was similar to or lower than the number of sheep culled--suggesting that incidence could be reduced by culling seropositive sheep without increasing average culling percentages. Random-effects logistic regression indicated that seroconversion was associated positively with increasing contact with infected sheep and with lifetime MV-serological status of the dam (used as a proxy measure of genetic susceptibility), but not with mode of rearing pre-weaning (artificially or with a seropositive or seronegative dam). Our results indicate that when conditions allow efficient horizontal transmission, there is no evidence that lactogenic infection increases the risk of MV infection and that there is an important inheritable component of disease resistance or susceptibility.