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1.
Sci Rep ; 11(1): 9925, 2021 05 11.
Article in English | MEDLINE | ID: mdl-33976248

ABSTRACT

The present study aims to identify novel means of increasing the accuracy of the estimated annual indoor radon concentration based on the application of temporal correction factors to short-term radon measurements. The necessity of accurate and more reliable temporal correction factors is in high demand, in the present age of speed. In this sense, radon measurements were continuously carried out, using a newly developed smart device accompanied by CR-39 detectors, for one full year, in 71 residential buildings located in 5 Romanian cities. The coefficient of variation for the temporal correction factors calculated for combinations between the start month and the duration of the measurement presented a low value (less than 10%) for measurements longer than 7 months, while a variability close to 20% can be reached by measurements of up to 4 months. Results obtained by generalized estimating equations indicate that average temporal correction factors are positively associated with CO2 ratio, as well as the interaction between this parameter and the month in which the measurement took place. The impact of the indoor-outdoor temperature differences was statistically insignificant. The obtained results could represent a reference point in the elaboration of new strategies for calculating the temporal correction factors and, consequently, the reduction of the uncertainties related to the estimation of the annual indoor radon concentration.

2.
Sci Total Environ ; 751: 141858, 2021 Jan 10.
Article in English | MEDLINE | ID: mdl-32892081

ABSTRACT

Over the last 10 years applied scientific research has been carried out in Romania to tacked the residential radon issues. The increased interest to reduce the carbon footprint of buildings has lead to the implementation and use of new architectural solutions aimed to save energy in houses and other buildings. As a consequence, the degree of retrofit in existing buildings and energy efficiency of new buildings promoted the need to not only mitigate indoor radon, but improve indoor air quality overall. The present study found that the while the best performance in radon reduction was confirmed to be based on sub-slab depressurization (61% - 95% reduction), centralized and decentralized mechanical supply and exhaust ventilation with heat recovery yielded a good efficiency in overall improvement of indoor air quality (CO2, VOC, RH, temperature). The outcome of our research, as well as future perspectives, take into account the recommended harmonization of energy efficiency programs with those of public health by finding and applying the best technologies in compliance with energy saving and indoor environmental quality.

3.
Sci Total Environ ; 669: 887-892, 2019 Jun 15.
Article in English | MEDLINE | ID: mdl-30897444

ABSTRACT

In the framework of the last Council Directive 2013/59 (Euratom, 2014) laying down basic safety standards for protection against the dangers arising from exposure to ionizing radiation, the problem of radon was assumed in Romania at national level by responsible authorities through the design and development of a National Radon Action Plan and an adequate legislation (HG nr. 526/2018). In order to identify radon risk areas, however, it is necessary to perform systematic radon measurements in different environmental media (soil gas, water, indoor air) and to map the results. This paper presents an atlas of up-to-date radon in soil and water levels for central and western part of Romania. The radon in soil map includes data from 2564 measurements carried out on-site, using Luk3C radon detector. The Luk-VR system was used to measure radon activity concentration from 2452 samples of drinking water. The average radon activity concentration was 29.3 kBq m-3 for soil gas, respectively 9.8 Bq l-1 for water dissolved air. Mapping of radon can be a useful tool to implement radon policies at both the national and local levels, defining priority areas for further study when land-use decisions must be made.

4.
Clin Immunol ; 169: 80-84, 2016 Aug.
Article in English | MEDLINE | ID: mdl-27236002
5.
J Hum Evol ; 65(4): 457-64, 2013 Oct.
Article in English | MEDLINE | ID: mdl-24012252

ABSTRACT

The discovery and first dates of the paintings in Grotte Chauvet provoked a new debate on the origin and characteristics of the first figurative Palaeolithic art. Since then, other art ensembles in France and Italy (Aldène, Fumane, Arcy-sur-Cure and Castanet) have enlarged our knowledge of graphic activity in the early Upper Palaeolithic. This paper presents a chronological assessment of the Palaeolithic parietal ensemble in Altxerri B (northern Spain). When the study began in 2011, one of our main objectives was to determine the age of this pictorial phase in the cave. Archaeological, geological and stylistic evidence, together with radiometric dates, suggest an Aurignacian chronology for this art. The ensemble in Altxerri B can therefore be added to the small but growing number of sites dated in this period, corroborating the hypothesis of more complex and varied figurative art than had been supposed in the early Upper Palaeolithic.


Subject(s)
Archaeology , Caves , Paintings/history , Chronology as Topic , Geology , History, Ancient , Humans , Radiometric Dating , Spain
6.
HIV Clin Trials ; 14(4): 160-4, 2013.
Article in English | MEDLINE | ID: mdl-23924588

ABSTRACT

BACKGROUND: Rapid screening for the detection of HLA-B*57:01 in the prevention of abacavir hypersensitivity in HIV-1-infected patients is a hallmark for clinical services. OBJECTIVE: The aim of this work was to analyze the utility of flow cytometry with a new FITC-conjugated B-17 monoclonal antibody (mAb3E12) for HLA-B*57:01 screening in a Spanish cohort of 577 HIV-1+ individuals. METHODS: Cryopreserved peripheral blood mononuclear cell samples from HIV-1+ individuals were analyzed by flow cytometry with the mAb 3E12 that recognizes both HLA-B*57 and HLA-B*58 alleles (members of the group specificity, HLA-B17). Patients' DNA samples had been previously typed for HLA-B*57:01 with PCR-SSO or PCR-SSP and additional DNA sequencing (EPI Study). The results obtained by flow cytometry were compared with the results obtained by the DNA-PCR techniques. RESULTS: By flow cytometry, 46 samples (7.97%) were positive for HLA-B17, 530 (91.86%) were negative, and 1 (0.17%) was undetermined. All samples found negative by flow cytometry were negative for HLA-B*57:01 by DNA-PCR. Of the HLA-B17 positive samples, 31 (67.4%) were positive for HLA-B*57:01, 2 (3.25%) were positive for HLA-B*57:03, 11 (26.1%) were positive for HLA-B*58, and 2 (3.25%) were negative for both HLA-B*57 and HLA-B*58 antigens. The undetermined sample was negative for HLA-B*57 and HLA-B*58 alleles by DNA-PCR. CONCLUSIONS: This study shows that flow cytometry with mAb3E12 is a highly sensitive method (no false negatives) to implement prior to DNA-PCR analysis for rapid screening of HLA-B*57:01. Additional confirmation by molecular HLA typing method would be required in less than 10% of the cohort of HIV-1-infected individuals.


Subject(s)
Acquired Immunodeficiency Syndrome/drug therapy , Anti-HIV Agents/adverse effects , Antibodies, Monoclonal/immunology , Dideoxynucleosides/adverse effects , Drug Hypersensitivity/prevention & control , Flow Cytometry/methods , Fluorescein-5-isothiocyanate , HIV-1 , HLA-B Antigens/analysis , False Positive Reactions , HLA-B Antigens/genetics , HLA-B Antigens/immunology , Humans , Time Factors
7.
J R Coll Physicians Edinb ; 42(3): 199-204, 2012.
Article in English | MEDLINE | ID: mdl-22953311

ABSTRACT

BACKGROUND: The high sensitivities and specificities reported for blood biomarkers as a supportive test in the diagnosis of acute stroke do not correspond with their performance for decision-making in emergency situations. METHODS: Seventy-two patients with suspected stroke were recruited: 44 with ischaemic stroke, 17 with haemorrhagic stroke and 11 stroke mimics, as well as a high-risk control group of 79 individuals. Serum neuron-specific enolase (NSE) and S100 calcium binding protein B (S100B) biomarker levels were determined on admission, using immunoassay kits. The sensitivities and specificities of NSE and S100B for distinguishing acute stroke from stroke mimics and high-risk controls were calculated. RESULTS: For cut-off values (NSE ≤ 14 micrograms per litre and S100B ≤130 nanograms per litre) the sensitivity was 53% and 55% respectively. Specificity was 64 for both versus the stroke mimic group. Specificity was higher (79% and 86% respectively) when calculated on the basis of the control group. CONCLUSIONS: This study supports the evidence indicating that serum levels of NSE and S100B do not improve the diagnosis of acute stroke.


Subject(s)
Brain Ischemia/blood , Intracranial Hemorrhages/blood , Phosphopyruvate Hydratase/blood , S100 Proteins/blood , Stroke/diagnosis , Adult , Aged , Aged, 80 and over , Biomarkers/blood , Brain Ischemia/complications , Female , Humans , Intracranial Hemorrhages/complications , Male , Middle Aged , Reference Values , Risk , Sensitivity and Specificity , Stroke/blood , Stroke/etiology
8.
Genet Mol Res ; 11(3): 2352-9, 2012 Aug 13.
Article in English | MEDLINE | ID: mdl-22911605

ABSTRACT

Although lysosomal storage disorders (LSDs) are considered individually rare, as a group they present a non-negligible frequency. Few studies have been made of populational occurrence of LSDs; they have been conducted predominantly on Caucasian populations. We studied the occurrence of LSDs in Cuba. Data from individuals who had been referred to the Institute of Neurology and Neurosurgery in Havana from hospitals all over the country between January 1990 and December 2005 were analyzed. This institute was the only laboratory to provide enzyme-based diagnostic testing for 19 LSDs in Cuba during this period. Occurrence rates were calculated by dividing the number of postnatal diagnoses by the number of births during the study period. The combined occurrence of LSDs in Cuba was 5.6 per 100,000, lower than that reported in other studies conducted on Caucasian populations. The most frequent individual LSDs were: mucopolysaccharidosis type I (1.01 per 100,000) and, surprisingly, alpha-mannosidosis (0.72 per 100,000) and fucosidosis (0.62 per 100,000). These findings may be related to specific genetic characteristics and admixture of the Cuban population. This is the first comprehensive study of the occurrence of LSDs in Cuba. We conclude that the epidemiology of these diseases can vary regionally, and we stress the need for similar surveys in other Latin American countries.


Subject(s)
Fucosidosis/epidemiology , alpha-Mannosidosis/epidemiology , Adolescent , Adult , Child , Child, Preschool , Cuba/epidemiology , Fucosidosis/diagnosis , Humans , Incidence , Infant , Middle Aged , Young Adult , alpha-Mannosidosis/diagnosis
9.
Rev. esp. cir. ortop. traumatol. (Ed. impr.) ; 56(4): 274-280, jul.-ago. 2012.
Article in Spanish | IBECS | ID: ibc-100567

ABSTRACT

Objetivo. Evaluar la eficacia y seguridad de una única inyección intraarticular de ácido hialurónico (AH)+manitol en artrosis de rodilla (AR). Material y método. Estudio prospectivo, abierto, no-comparativo con 80 pacientes diagnosticados de AR, de los cuales 79 finalizaron el estudio. Recibieron una inyección intraarticular de 2ml de AH al 2%+manitol al 0,5% (día 0) y fueron monitorizados durante 6 meses. Los días 0, 15, 30, 60, 90, 120, 150 y 180 se evaluaron dolor y funcionalidad articular mediante una escala analógica visual (EAV) y el índice WOMAC, eficacia y seguridad según médico y paciente, y medicación de rescate como medida indirecta del dolor. Resultados. Disminución significativa del dolor articular, rigidez e incapacidad funcional en comparación con el valor inicial en todas las visitas (p<0,001). La funcionalidad articular mejoró un 38,7% 30 días tras la inyección, alcanzando un 47,5% el día 180. El consumo de medicación de rescate descendió desde un 58,2%, inicial, hasta un 2,5% el día 90, aumentando en las últimas visitas. Investigadores y pacientes valoraron positivamente eficacia y seguridad. Solamente se reportaron efectos adversos leves en 4 pacientes (dolor leve e inflamación en la zona de infiltración). Discusión. Está demostrado que inyecciones intraarticulares repetidas de AH mejoran los síntomas en AR. Sin embargo, estudios con una única inyección de AH han proporcionado resultados mixtos. Este estudio demuestra que una inyección intraarticular de AH no crosslinked mejora el dolor y la funcionalidad articular en pacientes con AR durante un periodo mínimo de 6 meses (AU)


Objective. To evaluate the safety and efficacy of a single intra-articular injection of 2% hyaluronic acid (HA)+mannitol in symptomatic knee osteoarthritis (KOA). Material and methods. Pilot, multicentre, open, non-comparative study performed in eighty patients with painful KOA, of whom 79 completed the study. They received one injection of 2ml of 2% HA+0.5% mannitol (Day 0) and were followed-up for 6 months. On Days 0, 15, 30, 60, 90, 120, 150 and 180, pain and joint function were assessed using a visual analogue scale (VAS) and WOMAC index. Efficacy and safety by investigator and patient, and rescue medication, as an indirect measure of pain, were also recorded. Results. A significant reduction in joint pain, stiffness and functional disability compared with baseline was observed at every follow-up visit (P<.001). Joint function improved by 38.7% on Day 30, reaching 47.5% on Day 180. Rescue medication use decreased from 58.2% at baseline to 2.5% on Day 90, increasing in the last visits. Efficacy and safety were positively evaluated by investigators and patients. No serious adverse events were observed. Mild side effects were reported in 4 patients (local pain and swelling in the infiltration area). Discussion. There is evidence that repeated intra-articular injections of HA improve symptoms in KOA. However, studies with a single injection of HA have shown mixed results. This study demonstrates that one single intra-articular injection of non-cross-linked HA reduces joint pain and increases function in patients with KOA over a period of at least 6 months (AU)


Subject(s)
Humans , Male , Female , Treatment Outcome , Evaluation of the Efficacy-Effectiveness of Interventions , Injections, Intra-Articular/instrumentation , Injections, Intra-Articular/methods , Hyaluronic Acid/therapeutic use , Mannitol/therapeutic use , Osteoarthritis, Knee/drug therapy , Injections, Intra-Articular/trends , Injections, Intra-Articular , Osteoarthritis, Knee/metabolism , Prospective Studies , /methods
10.
Rev. esp. cir. ortop. traumatol. (Ed. impr.) ; 56(4): 286-294, jul.-ago. 2012.
Article in Spanish | IBECS | ID: ibc-100569

ABSTRACT

Los aloinjertos óseos estructurales han supuesto una alternativa al tratamiento de los tumores óseos de miembros, con posibilidad de cirugía de conservación del mismo. Presentamos un estudio retrospectivo observacional del manejo de los aloinjertos óseos estructurales en tumores óseos de huesos largos en nuestro hospital, durante los años 1993 a 2010, en el que obtenemos una muestra de 37 pacientes subsidiarios de esta técnica quirúrgica. Mediante la obtención de datos clínicos de la muestra aplicamos las escalas de funcionalidad de Mankin y EVACOM HUVA con resultados excelentes, muy buenos o buenos del 84%, y con los datos radiológicos aplicamos la escala de osteointegración ISOLS con un 95,6% de resultados excelentes a los 24 meses. Estos resultados nos muestran que los aloinjertos óseos estructurales constituyen una técnica válida y reproducible en pacientes con tumores óseos destructivos de huesos largos (AU)


Structural bone allografts have become an alternative in the treatment of limb bone tumours with a chance of limb-saving surgery. We present an observational retrospective study on the use of structural bone allografts in bone tumours of the long bones in our hospital between January 1993 and January 2010, with a sample of 37 patients subjected to this surgical technique. After obtaining clinical information from our sample we applied the Mankin and EVACOM HUVA functional scales with excellent, very good and good results in 84%, and with the radiological information we applied the ISOLS osseointegration scale, with 95.6% of excellent results after 24 months. These results demonstrate that structural bone allografts are a valid and reproducible technique in patients with destructive long bone tumours (AU)


Subject(s)
Humans , Male , Female , Transplantation, Homologous/methods , Transplantation, Homologous/trends , Neoplasms, Bone Tissue/diagnosis , Neoplasms, Bone Tissue/surgery , Osseointegration/physiology , Neoplasms, Bone Tissue/physiopathology , Neoplasms, Bone Tissue , Retrospective Studies , Bone Substitutes/therapeutic use
11.
Science ; 336(6087): 1409-13, 2012 Jun 15.
Article in English | MEDLINE | ID: mdl-22700921

ABSTRACT

Paleolithic cave art is an exceptional archive of early human symbolic behavior, but because obtaining reliable dates has been difficult, its chronology is still poorly understood after more than a century of study. We present uranium-series disequilibrium dates of calcite deposits overlying or underlying art found in 11 caves, including the United Nations Educational, Scientific, and Cultural Organization (UNESCO) World Heritage sites of Altamira, El Castillo, and Tito Bustillo, Spain. The results demonstrate that the tradition of decorating caves extends back at least to the Early Aurignacian period, with minimum ages of 40.8 thousand years for a red disk, 37.3 thousand years for a hand stencil, and 35.6 thousand years for a claviform-like symbol. These minimum ages reveal either that cave art was a part of the cultural repertoire of the first anatomically modern humans in Europe or that perhaps Neandertals also engaged in painting caves.


Subject(s)
Caves , Engraving and Engravings/history , Paintings/history , Radiometric Dating , Animals , Calcium Carbonate , Culture , History, Ancient , Humans , Neanderthals , Spain , Uranium
12.
Rev Esp Cir Ortop Traumatol ; 56(4): 274-80, 2012.
Article in Spanish | MEDLINE | ID: mdl-23594845

ABSTRACT

OBJECTIVE: To evaluate the safety and efficacy of a single intra-articular injection of 2% hyaluronic acid (HA)+mannitol in symptomatic knee osteoarthritis (KOA). MATERIAL AND METHODS: Pilot, multicentre, open, non-comparative study performed in eighty patients with painful KOA, of whom 79 completed the study. They received one injection of 2ml of 2% HA+0.5% mannitol (Day 0) and were followed-up for 6 months. On Days 0, 15, 30, 60, 90, 120, 150 and 180, pain and joint function were assessed using a visual analogue scale (VAS) and WOMAC index. Efficacy and safety by investigator and patient, and rescue medication, as an indirect measure of pain, were also recorded. RESULTS: A significant reduction in joint pain, stiffness and functional disability compared with baseline was observed at every follow-up visit (P<.001). Joint function improved by 38.7% on Day 30, reaching 47.5% on Day 180. Rescue medication use decreased from 58.2% at baseline to 2.5% on Day 90, increasing in the last visits. Efficacy and safety were positively evaluated by investigators and patients. No serious adverse events were observed. Mild side effects were reported in 4 patients (local pain and swelling in the infiltration area). DISCUSSION: There is evidence that repeated intra-articular injections of HA improve symptoms in KOA. However, studies with a single injection of HA have shown mixed results. This study demonstrates that one single intra-articular injection of non-cross-linked HA reduces joint pain and increases function in patients with KOA over a period of at least 6 months.


Subject(s)
Hyaluronic Acid/administration & dosage , Mannitol/administration & dosage , Osteoarthritis, Knee/drug therapy , Viscosupplementation/methods , Viscosupplements/administration & dosage , Adult , Aged , Aged, 80 and over , Drug Administration Schedule , Drug Therapy, Combination , Follow-Up Studies , Humans , Hyaluronic Acid/therapeutic use , Mannitol/therapeutic use , Middle Aged , Pilot Projects , Prospective Studies , Treatment Outcome , Viscosupplements/therapeutic use
13.
Rev Esp Cir Ortop Traumatol ; 56(4): 286-94, 2012.
Article in Spanish | MEDLINE | ID: mdl-23594847

ABSTRACT

Structural bone allografts have become an alternative in the treatment of limb bone tumours with a chance of limb-saving surgery. We present an observational retrospective study on the use of structural bone allografts in bone tumours of the long bones in our hospital between January 1993 and January 2010, with a sample of 37 patients subjected to this surgical technique. After obtaining clinical information from our sample we applied the Mankin and EVACOM HUVA functional scales with excellent, very good and good results in 84%, and with the radiological information we applied the ISOLS osseointegration scale, with 95.6% of excellent results after 24 months. These results demonstrate that structural bone allografts are a valid and reproducible technique in patients with destructive long bone tumours.


Subject(s)
Allografts/transplantation , Bone Neoplasms/surgery , Bone Transplantation/methods , Femur/surgery , Humerus/surgery , Limb Salvage/methods , Tibia/surgery , Adolescent , Adult , Aged , Female , Femoral Neoplasms/surgery , Humans , Male , Middle Aged , Retrospective Studies , Transplantation, Homologous/methods , Treatment Outcome , Young Adult
15.
Clin Exp Immunol ; 164(1): 100­7, 2011 Apr.
Article in English | MEDLINE | ID: mdl-21391984

ABSTRACT

Recurrent respiratory tract infections (RRTIs) are common clinical conditions in individuals with alterations of the immune function. A prospective open pilot study in a cohort of patients with RRTIs has been performed to assess whether sublingual immunization with a polyvalent bacterial vaccine could exert an immunomodulatory effect on the antigen-specific immunological responses and have an impact on the clinical outcome. Seventeen patients with RRTIs were recruited. An oral polyvalent bacterial preparation (Bactek®) was administered to all patients daily for 6 months. Immunological assessment was performed at baseline and at the end of immunization. Immunological measurements included: T cell-specific proliferations of CD3+CD4+ and CD3+CD8+ to Bactek® antigens, total immunoglobulin levels, antibodies to pneumococcal polysaccharide and tetanus toxoid and B, T and natural killer (NK) cell subsets. There was a significant increase in the proliferative capacity of CD3+CD4+ T cells specific to Bactek® antigens at month 6 in comparison to baseline (P < 0·0001). A significant increase in total CD3+ T cells was also observed (P < 0·05). No significant differences were observed between baseline and month 6 in levels of total immunoglobulins, specific antibodies and B, T or NK cell subsets. A significant reduction in the patient's rate of RRTIs was observed compared with 1 year prior to initiation of therapy (P < 0·0001). The results demonstrate that long-term administration of a sublingual polyvalent bacterial preparation in patients with RRTIs exerts an immune stimulating effect on CD4+ T helper cell responses to bacterial antigens which could be associated with clinical benefit.


Subject(s)
Bacterial Infections/immunology , Bacterial Vaccines/immunology , Immunization/methods , Respiratory Tract Infections/immunology , Administration, Sublingual , Adult , Aged , B-Lymphocytes/drug effects , B-Lymphocytes/immunology , Bacterial Infections/blood , Bacterial Infections/drug therapy , Bacterial Infections/microbiology , Bacterial Vaccines/administration & dosage , Drug Administration Schedule , Female , Humans , Immunoglobulins/blood , Immunoglobulins/immunology , Killer Cells, Natural/drug effects , Killer Cells, Natural/immunology , Lymphocyte Count , Male , Middle Aged , Pilot Projects , Prospective Studies , Recurrence , Respiratory Tract Infections/blood , Respiratory Tract Infections/drug therapy , T-Lymphocytes/drug effects , T-Lymphocytes/immunology , Time Factors , Treatment Outcome , Young Adult
16.
Rev. neurol. (Ed. impr.) ; 49(9): 458-462, 1 nov., 2009. tab, graf
Article in Spanish | IBECS | ID: ibc-77799

ABSTRACT

Introduction. Mucopolysaccharidoses (MPS), which belong to the family of inborn errors of metabolism, are characterised by their severe clinical manifestations (skeletal, neurological and visceral) and a chronic, progressive course leading to death at early stages of life. Aim. To accomplish an enzymatic diagnosis and characterise MPS within the Cuban population. Subjects and methods. A total of 664 patients with a clinical suspicion of some type of MPS were referred to theInstitute of Neurology and Neurosurgery in Havana in order to determine a possible enzymatic deficiency and to classify the type of MPS involved in each case. Enzymatic determinations of alpha-L-iduronidasa, alpha-N- cetylglucosaminidase, betagalactosidase,arylsulphatase B and beta-glucuronidase were performed in leukocyte homogenate for MPS I, IIIB, IVB, VI andVII, respectively, in patients, parents and controls. Results. In all, 42 cases of MPS were diagnosed: MPS I (62%, n = 26), MPS VI (29%, n = 12), MPS IIIB (7%, n = 3) and MPS IVB (2%, n = 1). No patients with MPS VII were identified. The patients diagnosed with MPS were of both sexes and ages ranged between 4 months and 10 years. The specific activity of the enzymesthat were studied was deficient in patients with respect to parents and controls. The percentage of activity was lower in patients compared to parents. Conclusions. These studies made it possible to evaluate the enzymatic deficiencies and to establish thediagnosis of MPS I, MPS IIIB, MPS IVB, MPS VI and MPS VII in the Cuban population (AU)


Introducción. Las mucopolisacaridosis (MPS), dentro de los errores innatos del metabolismo, se caracterizan por sus manifestaciones clínicas graves (esqueléticas, neurológicas y viscerales), con un curso crónico y progresivo, que conducena la muerte en etapas tempranas de la vida. Objetivo. Diagnosticar enzimáticamente y caracterizar las MPS en la población cubana. Sujetos y métodos. Se remitió un total de 664 pacientes con sospecha clínica de algún tipo de MPS al Instituto de Neurología y Neurocirugía de La Habana para determinar la posible deficiencia enzimática y clasificar el tipo de MPS.Las determinaciones enzimáticas de alfa-L-iduronidasa, N-alfa- etilglucosaminidasa, beta-galactosidasa, arilsulfatasa B y beta-glucuronidasa se realizaron en homogenado de leucocitos para MPS I, IIIB, IVB, VI y VII, respectivamente, en pacientes,padres y controles. Resultados. Se diagnosticaron 42 casos de MPS: MPS I (62%, n = 26), MPS VI (29%, n = 12), MPS IIIB (7%, n = 3) y MPS IVB (2%, n = 1). No se identificó ningún paciente con MPS VII. Los pacientes con MPS diagnosticados fueron de ambos sexos, y el rango de edad osciló de 4 meses a 10 años. La actividad específica de las enzimas estudiadas fue deficitaria en pacientes respecto a padres y controles. El porcentaje de actividad resultó inferior en pacientes respecto apadres. Conclusión. Estos estudios permitieron valorar las deficiencias enzimáticas y establecer el diagnóstico de las MPS I, IIIB, IVB, VI y VII en la población cubana (AU)


Subject(s)
Humans , Male , Female , Child , Mucopolysaccharidoses/diagnosis , Mucopolysaccharidoses/enzymology , Mucopolysaccharidoses/epidemiology , Mucopolysaccharidoses/etiology , Mucopolysaccharidoses/genetics , Genetic Diseases, Inborn/complications , Genetic Diseases, Inborn/diagnosis , Genetic Diseases, Inborn/genetics , alpha-Glucosidases/deficiency
17.
Rev Neurol ; 49(9): 458-62, 2009.
Article in Spanish | MEDLINE | ID: mdl-19859885

ABSTRACT

INTRODUCTION: Mucopolysaccharidoses (MPS), which belong to the family of inborn errors of metabolism, are characterised by their severe clinical manifestations (skeletal, neurological and visceral) and a chronic, progressive course leading to death at early stages of life. AIM. To accomplish an enzymatic diagnosis and characterise MPS within the Cuban population. SUBJECTS AND METHODS: A total of 664 patients with a clinical suspicion of some type of MPS were referred to the Institute of Neurology and Neurosurgery in Havana in order to determine a possible enzymatic deficiency and to classify the type of MPS involved in each case. Enzymatic determinations of alpha-L-iduronidasa, alpha-N-acetylglucosaminidase, beta-galactosidase, arylsulphatase B and beta-glucuronidase were performed in leukocyte homogenate for MPS I, IIIB, IVB, VI and VII, respectively, in patients, parents and controls. RESULTS. In all, 42 cases of MPS were diagnosed: MPS I (62%, n = 26), MPS VI (29%, n = 12), MPS IIIB (7%, n = 3) and MPS IVB (2%, n = 1). No patients with MPS VII were identified. The patients diagnosed with MPS were of both sexes and ages ranged between 4 months and 10 years. The specific activity of the enzymes that were studied was deficient in patients with respect to parents and controls. The percentage of activity was lower in patients compared to parents. CONCLUSIONS: These studies made it possible to evaluate the enzymatic deficiencies and to establish the diagnosis of MPS I, MPS IIIB, MPS IVB, MPS VI and MPS VII in the Cuban population.


Subject(s)
Mucopolysaccharidoses/diagnosis , Mucopolysaccharidoses/enzymology , Child , Child, Preschool , Cuba/epidemiology , Female , Humans , Infant , Male , Mucopolysaccharidoses/classification , Mucopolysaccharidoses/epidemiology
18.
Allergy ; 64(2): 284-6, 2009 Feb.
Article in English | MEDLINE | ID: mdl-19178407

ABSTRACT

BACKGROUND: A new type of hereditary angioedema (type III) affecting mainly women with normal C1-inhibitor level and function has been described. Exposition to estrogens is an important precipitating factor. Recently, a missense mutation in the gene of the blood coagulation factor XII (Hageman factor) has been reported in a few families with this type of hereditary angioedema. AIM: To study a patient and her family with recurrent swelling attacks during pregnancy. METHODS: Complement factors C3 and C4 as well as C1-inhibitor level and function were determined. Genomic DNA was isolated from venous blood samples and screened for mutations in the coagulation factor XII gene. RESULTS: C3 and C4 levels as well as C1-inhibitor level and function were normal. A missense mutation Thr309Lys was identified in factor XII gene with a heterozygotic pattern. This mutation was also identified in the mother of the patient, her daughter and her son. CONCLUSION: These results support that the mentioned mutation in factor XII gene causes hereditary angioedema type III.


Subject(s)
Angioedemas, Hereditary/genetics , Factor XII/genetics , Mutation, Missense , Adult , Amino Acid Substitution/genetics , Angioedemas, Hereditary/blood , Female , Humans , Lysine/genetics , Male , Pedigree , Threonine/genetics
19.
Rev Neurol ; 49(9)Nov. 2009. tab, graf
Article in Spanish | CUMED | ID: cum-43982

ABSTRACT

Las mucopolisacaridosis (MPS), dentro de los errores innatos del metabolismo, se caracterizan por sus manifestaciones clínicas graves (esqueléticas, neurológicas y viscerales), con un curso crónico y progresivo, que conducen a la muerte en etapas tempranas de la vida. Objetivo. Diagnosticar enzimáticamente y caracterizar las MPS en la población cubana. Sujetos y métodos. Se remitió un total de 664 pacientes con sospecha clínica de algún tipo de MPS al Instituto de Neurología y Neurocirugía de La Habana para determinar la posible deficiencia enzimática y clasificar el tipo de MPS. Las determinaciones enzimáticas de alfa-L-iduronidasa, N-alfa-acetilglucosaminidasa, beta-galactosidasa, arilsulfatasa B y beta-glucuronidasa se realizaron en homogenado de leucocitos para MPS I, IIIB, IVB, VI y VII, respectivamente, en pacientes, padres y controles...(AU)


Subject(s)
Humans , Mucopolysaccharidoses/genetics , Mucopolysaccharidoses/diagnosis , Mucopolysaccharidoses/metabolism , Enzymes/analysis , Lysosomal Storage Diseases , Leukocytes/cytology
20.
Actas Dermosifiliogr ; 99 Suppl 4: 2-6, 2008 Jul.
Article in Spanish | MEDLINE | ID: mdl-19080985

ABSTRACT

Biological therapies have revolutionized the treatment of chronic systemic diseases in which the immune system disorders form a part of the disease mechanism. In these diseases, the patients follow different drug treatments for long periods of time that causes serious adverse reactions and often obtain unsatisfactory efficacy results. Due to the research conducted in the last 10 years, biological drugs have been introduced into the treatment that are aimed against specific targets, such as inflammatory and immunopathological responses that give rise to tissue injury. The new biological therapies have improved the currently available treatments due to greater efficacy, fast action and greater tolerability. The present work aims to provide a global and up-dated view on the biological agents used most in the usual clinical practice and their importance in the management of the chronic immunologically based inflammatory diseases.


Subject(s)
Anti-Inflammatory Agents/therapeutic use , Antibodies, Monoclonal/therapeutic use , Antirheumatic Agents/therapeutic use , Biological Products/therapeutic use , Dermatologic Agents/therapeutic use , Immunosuppressive Agents/therapeutic use , Tumor Necrosis Factor-alpha/antagonists & inhibitors , Adalimumab , Adult , Antibodies, Monoclonal, Humanized , Arthritis, Juvenile/drug therapy , Arthritis, Psoriatic/drug therapy , Arthritis, Rheumatoid/drug therapy , Child , Colitis, Ulcerative/drug therapy , Crohn Disease/drug therapy , Etanercept , Humans , Immunoglobulin G/therapeutic use , Infliximab , Receptors, Tumor Necrosis Factor/therapeutic use , Spondylitis, Ankylosing/drug therapy
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