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1.
Pharmacoecon Open ; 7(3): 431-441, 2023 May.
Article in English | MEDLINE | ID: mdl-36802327

ABSTRACT

INTRODUCTION: A subcutaneous (SC) formulation of natalizumab has been recently authorised for multiple sclerosis patients. This study aimed to assess the implications of the new SC formulation, and to compare the annual treatment costs of SC versus intravenous (IV) natalizumab therapy from both the Spanish healthcare system (direct health cost) and the patient (indirect cost) perspectives. METHODS: A patient care pathway map and a cost-minimisation analysis were developed to estimate SC and IV natalizumab annual costs over a 2-year time horizon. Considering the patient care pathway and according to natalizumab experience (IV) or estimation (SC), a national expert panel involving neurologists, pharmacists, and nurses provided information/data regarding resource consumption for drug and patient preparation, administration, and documentation. One hour of observation was applied to the first six (SC) or 12 (IV) doses, and 5 min for successive doses. The Day hospital (infusion suite) facilities at a reference hospital were considered for IV administrations and the first six SC injections. For successive SC injections, either a reference hospital or regional hospital in a consulting room was considered. Productivity time associated with travel (56 min to reference hospital, 24 min to regional hospital) and waiting time pre- and post-treatment (SC 15 min, IV 25 min) were assessed for patients and caregivers (accompanying 20% of SC and 35% of IV administrations). National salaries for healthcare professionals were used for cost estimation (€, year 2021). RESULTS: At years 1 and 2, total time and cost savings (excluding drug acquisition cost) per patient, driven by saving on administration and patient and caregiver productivity for SC at a reference hospital versus IV at a reference hospital, were 116 h (a reduction of 54.6%) and €3682.82 (a reduction of 66.2%). In the case of natalizumab SC at a regional hospital, the total time and cost saving were 129 h (a reduction of 60.6%) and €3883.47 (a reduction of 69.8%). CONCLUSIONS: Besides the potential benefits of convenient administration and improving work-life balance, as suggested by the expert panel, natalizumab SC was associated with cost savings for the healthcare system by avoiding drug preparation, reducing administration time, and freeing up infusion suite capacity. Additional cost savings could be derived with regional hospital administration of natalizumab SC by reducing productivity loss.

2.
Ann Clin Biochem ; 58(2): 132-140, 2021 03.
Article in English | MEDLINE | ID: mdl-33275445

ABSTRACT

BACKGROUND: A patient survey developed by the Pre-Analytical Phase Special Interest Group of the Association for Clinical Biochemistry and Laboratory Medicine (ACB-PA-SIG) was conducted during November and December 2019. The survey aimed to determine the quality of information provided to patients in preparation for their blood test(s). In addition, the ACB-PA-SIG provide a number of recommendations, which, if adopted, may yield higher quality test results and improve patient management. METHODS: The survey was distributed at phlebotomy suites in two Hospitals: Ipswich Hospital (United Kingdom [UK]), and Cork University Hospital (Republic of Ireland [RoI]). RESULTS: Overall, 235 survey responses were received from the two sites. A total of 103 respondents received no information about preparing for their blood test and 92 had been told they did not need to fast. None of the patients surveyed had been instructed to fast for 12 h. Twenty-two patients had been told to avoid certain foods, drinks or medication, 14 were told to avoid strenuous activity and 41 respondents had been informed of the need to avoid alcohol/smoking prior to their blood test. Overall, only approximately 78 felt well informed about the blood taking process. CONCLUSIONS: Based on the results of this survey, the ACB-PA-SIG conclude that: (1) clinicians should provide clear written information to patients regarding pre-analytical requirements; and (2) effective communication between laboratories and General Practitioners is required to disseminate information. In this paper, the ACB-PA-SIG provide a list of pre-analytical recommendations to standardize and improve practice across the UK and RoI.


Subject(s)
Attitude to Health , Hematologic Tests/methods , Patient Education as Topic/methods , Communication , Fasting , General Practitioners , Humans , Ireland , Laboratories/standards , Patient Education as Topic/standards , Perception , Phlebotomy/methods , Practice Guidelines as Topic , Surveys and Questionnaires , United Kingdom
3.
Mar Pollut Bull ; 153: 110999, 2020 Apr.
Article in English | MEDLINE | ID: mdl-32275548

ABSTRACT

Marine microplastic pollution is an issue of great concern nowadays since high concentrations have been detected in the ocean, mainly in the subtropical gyres that accumulate this type of debris. The long-term effects of this pollution on ecosystems and marine biota are still unknown. The aim of this study is to quantify and characterise microplastics and neustonic zooplankton in sub-surface waters of the Macaronesian region, an area that has been little studied to date. Our results show a great variability in the concentration of microplastics with values between 15,283 items/km2 in Los Gigantes (Tenerife, Canary Islands) and 1,007,872 items/km2 in Las Canteras (Gran Canaria, Canary Islands). The main types of debris found were plastic fragments and fibres. The abundances of neustonic zooplankton were also very variable between the different sampling areas, being the main components copepods and eggs. Regarding the microplastics-zooplankton ratio, values were obtained between 0.002 and 0.22. In Las Canteras, the highest accumulation zone, was found twice as much microplastics as zooplankton for the 1-5 mm fraction in dry weight. These values highlight the potential hazard of microplastics - and its associated chemical contaminants - for marine biota, especially for large filter feeders.


Subject(s)
Environmental Monitoring , Microplastics , Water Pollutants, Chemical , Animals , Ecosystem , Plastics , Spain
4.
P R Health Sci J ; 38(3): 148-155, 2019 09.
Article in English | MEDLINE | ID: mdl-31536627

ABSTRACT

OBJECTIVE: To perform an epidemiologic profile of pancreatic cancer (PC) in Puerto Rico (PR) with data gathered from 2001 to 2015. METHODS: Using data from the PR Central Cancer Registry we estimated incidence and mortality rates and trends of PC in PR, and performed survival analyses. We also compared the age-standardized incidence and mortality rates of PC in people in PR with those of Hispanics, non-Hispanic whites, and non Hispanic blacks in the United States (US). RESULTS: From 2011 to 2015, 7.8 per 100,000 persons were diagnosed with PC in PR; higher rates were observed in men than in women (9.2 vs. 6.7 per 100,000, respectively) and in persons 65 years old and older (42.7 per 100,000 persons). For the same period, 6.7 per 100,000 persons died from PC; men and persons 65 years and older had higher mortality rates. Incidence and mortality trends of PC in PR increased from 2001-2015 (annual percent change [APC] = 3.8% and 1.9%, respectively (p<0.05). Lower risk of being diagnosed with and dying from PC was seen in PR than in members of several racial/ethnic groups in the US. The median survival time for PC cases diagnosed in PR during the period of 2008 to 2012 was 5.3 months. CONCLUSION: We observed increasing mortality rates and low survival in PC patients in PR. Research on access and response to treatment is needed to elucidate the reasons for the observed results and have a positive impact on PC burden and survival.


Subject(s)
Black or African American/statistics & numerical data , Hispanic or Latino/statistics & numerical data , Pancreatic Neoplasms/epidemiology , White People/statistics & numerical data , Aged , Female , Humans , Incidence , Male , Middle Aged , Puerto Rico/epidemiology , Registries , Survival Rate
5.
Lupus ; 28(9): 1141-1147, 2019 Aug.
Article in English | MEDLINE | ID: mdl-31256746

ABSTRACT

OBJECTIVE: To identify determinants and outcomes associated with infection in paediatric systemic lupus erythematosus (SLE) patients at admission and during hospitalization in intensive care units (ICUs). PATIENTS AND METHODS: A retrospective cohort study of paediatric SLE patients admitted to two ICUs was conducted. Frequency and risk factors of infection as well as mortality were studied. RESULTS: Seventy-three infection episodes amongst 55 patients were analysed. The median age was 14.4 years (IQR 12.5-16). The median SLEDAI was 16 (IQR 12-20). Twenty-nine episodes were documented at admission; the CRP was higher in these patients (6.58 versus 1.04 mg/dl, p<0.001) than in non-infected patients, even after multivariate adjustment (OR 8.6, 95% CI = 2.1-34.8, p = 0.003). Twenty-five (34.7%) episodes occurred during hospitalization. Lupus activity (OR 1.14, 95% CI = 1.01-1.27, p = 0.029), cyclophosphamide (OR 17.9, 95% CI = 2-156, p = 0.009) and mechanical ventilation (OR 16, 95% CI = 2.1-122, p = 0.008) were associated with infection. Ten episodes (14%) led to death. Admission to the ICU due to infection was strongly associated with mortality (90% versus 31.8%, OR 19.4, 95% CI = 2.3-163, p = 0.006). CONCLUSION: In paediatric lupus patients admitted to the ICU, elevated CRP should alert clinicians to possible infection. During hospitalization, SLE activity and cyclophosphamide were associated with infection. Infection at admission to the ICU was strongly associated with mortality.


Subject(s)
Hospitalization/statistics & numerical data , Infections/epidemiology , Intensive Care Units/statistics & numerical data , Lupus Erythematosus, Systemic/complications , Adolescent , Cohort Studies , Cyclophosphamide/administration & dosage , Female , Humans , Immunosuppressive Agents/administration & dosage , Infections/etiology , Lupus Erythematosus, Systemic/drug therapy , Lupus Erythematosus, Systemic/physiopathology , Male , Retrospective Studies , Risk Factors , Young Adult
6.
Epidemiol Infect ; 147: e71, 2019 01.
Article in English | MEDLINE | ID: mdl-30869023

ABSTRACT

We investigated the distribution of comorbidities among adult tuberculosis (TB) patients in Chiapas, the poorest Mexican state, with a high presence of indigenous population, and a corridor for migrants from Latin America. Secondary analysis on 5508 new adult TB patients diagnosed between 2010 and 2014 revealed that the most prevalent comorbidities were diabetes mellitus (DM; 19.1%) and undernutrition (14.4%). The prevalence of DM in these TB patients was significantly higher among middle aged (41-64 years) compared with older adults (⩾65 years) (38.6% vs. 23.2%; P < 0.0001). The prevalence of undernutrition was lower among those with DM, and higher in communities with high indigenous presence. Immigrants only comprised 2% of all TB cases, but were more likely to have unfavourable TB treatment outcomes (treatment failure, death and default) when compared with those born in Chiapas (29.5% vs. 11.1%; P < 0.05). Unfavourable TB outcomes were also more prevalent among the TB patients with undernutrition, HIV or older age, but not DM (P < 0.05). Our study in Chiapas illustrates the challenges of other regions worldwide where social (e.g. indigenous origin, poverty, migration) and host factors (DM, undernutrition, HIV, older age) are associated with TB. Further understanding of these critical factors will guide local policy makers and health providers to improve TB management.


Subject(s)
Diabetes Mellitus/epidemiology , Human Migration/statistics & numerical data , Indians, North American/statistics & numerical data , Indigenous Peoples/statistics & numerical data , Malnutrition/epidemiology , Tuberculosis/epidemiology , Adult , Aged , Aged, 80 and over , Alcoholism/epidemiology , Alcoholism/etiology , Comorbidity , Cross-Sectional Studies , Diabetes Mellitus/etiology , Female , HIV Infections/epidemiology , HIV Infections/virology , Humans , Male , Malnutrition/etiology , Mexico/epidemiology , Middle Aged , Prevalence , Risk Factors , Tuberculosis/microbiology , Young Adult
7.
J Appl Microbiol ; 120(6): 1501-8, 2016 Jun.
Article in English | MEDLINE | ID: mdl-26991693

ABSTRACT

AIMS: To isolate, characterize and determine the antibacterial activities of compounds produced by the endophytic fungus Diaporthe sp. F2934, cultivated on malt extract agar. METHODS AND RESULTS: The fungus was cultivated aseptically in Petri dishes containing malt extract agar at 25°C for 15 days. Crude extract was obtained from mycelium using ethyl acetate and sonication, and was fractioned using classic chromatography and HPLC. The structures of phomosines and chromanones were established by NMR experiments including HMQC, HMBC and COSY. Their molecular formulas were determined by ESI-TOFMS. We obtained six compounds: (1) 4H-1-benzopyra-4-one-2,3-dihydro-5-hydroxy-2,8-dimetyl, (2) 4H-1-benzopyran-4-one-2,3-dihydro-5-hydroxy-8-(hydroxylmethyl)-2-methyl, (3) 4H-1-benzopyra-4-one-2,3-dihydro-5-methoxyl-2,8-dimetyl, (4) phomosine A, (5) phomosine D and (6) phomosine C. Isolated compounds 1, 2 and 5 were inactive against 15 micro-organisms, but phomosines A and C were active against diverse Gram-negative and Gram-positive bacteria. CONCLUSIONS: A group of new chromanones and known phomosines have been isolated from the genus Diaporthe (Diaporthe sp. F2934). The results obtained confirm the wide chemical diversity produced by endophytic fungi, specifically the genus Diaporthe. In addition, phomosines A and C may be considered as antimicrobial agents that can be used to guide the development of new antibiotics. SIGNIFICANCE AND IMPACT OF THE STUDY: Our phylogenetic analysis places Diaporthe sp. F2934 as sister to the Diaporthe cynaroidis clade. Three chromanones were isolated and identified, for the first time, using crude extract obtained from Diaporthe F2934. From this extract phomosines A, C and D were also purified. Regarding Staphylococcus aureus, the inhibition zone diameter (IZD) for phomosine A was 20% higher than the standard drug, vancomycin. When cultivated as described here, Diaporthe sp. F2934 produced new and antimicrobial compounds.


Subject(s)
Anti-Bacterial Agents/pharmacology , Ascomycota/chemistry , Bacteria/drug effects , Chromans/pharmacology , Ethers/pharmacology , Anti-Bacterial Agents/chemistry , Anti-Bacterial Agents/isolation & purification , Ascomycota/classification , Bacteria/classification , Chromans/chemistry , Chromans/isolation & purification , Ethers/chemistry , Ethers/isolation & purification , Phylogeny , Staphylococcus aureus/drug effects
8.
Article in English | MEDLINE | ID: mdl-34368452

ABSTRACT

BACKGROUND & OBJECTIVE: Pancreatic cancer is an uncommon type of cancer worldwide. Nonetheless, even with early diagnosis, mortality rates are high. This study aims to perform an epidemiologic profile of pancreatic cancer in Puerto Rico (PR) from 1987-2010. METHODS: Using data from the Puerto Rico Central Cancer Registry, age-standardized incidence and mortality rates of pancreatic cancer in PR were compared with Hispanics, non-Hispanic Whites, and non-Hispanic Blacks in the United States of America (USA). Incidence and mortality trends of pancreatic cancer were estimated, and survival analyses were also performed. RESULTS: In 2005-2010, 5.8 per 100,000 persons were diagnosed with pancreatic cancer in PR and mortality rates were similar. Pancreatic cancer was more frequent in men (6.5 per 100,000 men) than women (5.2 per 100,000 women), and in persons older than 65 years (32.0 per 100,000 persons). Moreover, the median survival for the people diagnosed with pancreatic cancer in PR during 2006-2007 was 4 months and at the end of the third year after diagnosis, only 13% of the patients survived. Incidence trends of pancreatic cancer showed an increase for men (APC=13.0%, p<0.05) from 2006 to 2010, but not for women (APC=-0.4, p>0.05). However, mortality trends showed a slight decrease for men (APC=-1.0%, p<0.05), but not for women (APC=1.4, p>0.05) in the period of 1987 to 2010. Meanwhile, Puerto Ricans in comparison to other racial/ethnic groups living in the USA showed a lower risk for being diagnosed and of dying from pancreatic cancer. CONCLUSION: Our results highlight the need for additional research in pancreatic cancer, in order to have an impact in disease survival in PR.

9.
Genetica ; 143(3): 353-60, 2015 Jun.
Article in English | MEDLINE | ID: mdl-25792372

ABSTRACT

Among Neotropical fish fauna, the South American killifish genus Austrolebias (Cyprinodontiformes: Rivulidae) constitutes an excellent model to study the genomic evolutionary processes underlying speciation events. Recently, unusually large genome size has been described in 16 species of this genus, with an average DNA content of about 5.95 ± 0.45 pg per diploid cell (mean C-value of about 2.98 pg). In the present paper we explore the possible origin of this unparallel genomic increase by means of comparative analysis of the repetitive components using NGS (454-Roche) technology in the lowest and highest Rivulidae genomes. Here, we provide the first annotated Rivulidae-repeated sequences composition and their relative repetitive fraction in both genomes. Remarkably, the genomic proportion of the moderately repetitive DNA in Austrolebias charrua genome represents approximately twice (45%) of the repetitive components of the highly related rivulinae taxon Cynopoecilus melanotaenia (25%). Present work provides evidence about the impact of the repeat families that could be distinctly proliferated among sublineages within Rivulidae fish group, explaining the great genome size differences encompassing the differentiation and speciation events in this family.


Subject(s)
Cyprinodontiformes/genetics , Genome Size , Repetitive Sequences, Nucleic Acid , Animals , Cell Nucleus/genetics , High-Throughput Nucleotide Sequencing , Sequence Analysis, DNA
10.
Genetica ; 142(1): 87-98, 2014 Feb.
Article in English | MEDLINE | ID: mdl-24452909

ABSTRACT

The extent to which genome sizes and other nucleotypic factors influence the phyletic diversification of lineages has long been discussed but remains largely unresolved. In the present work, we present evidence that the genomes of at least 16 species of the neotropical rivulid killifish genus Austrolebias are unusually large, with an average DNA content of about 5.95 ± 0.45 picograms per diploid cell (mean C-value of about 2.98 pg). They are thus larger than the genomes of very nearly all other diploid, i.e. non-(paleo) polyploid species of actinopterygian fishes so far reported. Austrolebias species appear to be conventional diploids in all other respects and there is no reason to believe that they arise from polyploid ancestors. The genome sizes reported for other rivulid killifishes, including a putative sister group, are considerably smaller and fall within the range typical of most other cyprinodontoid species. Therefore, it appears that the ancestor(s) of contemporary Austrolebias have undergone one or more episodes of genome expansion encompassing sudden speciation process during the Pleistocene. In addition, these findings are consistent with the hypothesis of a positive correlation between species richness and genome size.


Subject(s)
Cyprinodontiformes/classification , Cyprinodontiformes/genetics , Genetic Speciation , Genome Size , Animals , Chromosomes , DNA/genetics , Evolution, Molecular , Genomic Instability , Karyotype , Phylogeny , Phylogeography , Polyploidy
11.
Nefrologia ; 31(6): 716-22, 2011.
Article in English, Spanish | MEDLINE | ID: mdl-22130288

ABSTRACT

The biological, physical and psychological burden of a chronic disease has an impact on the quality of life of people who suffer from it. The perception of quality of life is affected by psychological disorders such as anxiety and depression that have a high prevalence in people with chronic kidney disease (CKD). These factors are also linked to lower life expectancy. It is therefore surprising that the psychological aspects of people with autosomal dominant polycystic kidney disease (ADPKD) have received so little attention in the medical literature, despite their importance for the overall health of these patients. The relatively new discipline called psychonephrology provides a broader view of the impact that these aspects have on individuals with chronic kidney disease, with a consequent practical application. In this article, we examine the consequences and prevalence of psychological problems that can be related to CKD and ADPKD. Firstly, we will focus on the field of CKD and ADPKD within the scope of psychonephrology. Secondly, the article introduces the concept of quality of life as a basic pillar of health that is affected when a person is diagnosed with CKD. Thirdly, we will present a summary of the main research related to anxiety and depression disorders in CKD and ADPKD. The article will conclude by synthesising findings from the different lines of research undertaken.


Subject(s)
Polycystic Kidney, Autosomal Dominant/psychology , Anxiety/epidemiology , Anxiety/etiology , Depression/epidemiology , Depression/etiology , Family Relations , Fear , Humans , Inpatients/psychology , Kidney Failure, Chronic/etiology , Kidney Failure, Chronic/psychology , Kidney Transplantation/psychology , Life Expectancy , Life Style , Outpatients/psychology , Polycystic Kidney, Autosomal Dominant/complications , Polycystic Kidney, Autosomal Dominant/surgery , Quality of Life , Renal Dialysis/psychology , Social Support , Spain/epidemiology , Stress, Psychological/epidemiology , Stress, Psychological/etiology , Waiting Lists
12.
Nefrología (Madr.) ; 31(3): 268-274, jun. 2011. ilus, tab
Article in Spanish | IBECS | ID: ibc-103198

ABSTRACT

En el tratamiento de la hipertensión y la diabetes, la combinación de bloqueantes del sistema renina-angiotensina y de los canales de calcio se presenta como una de las opciones más eficaces. Sin embargo, no todos los bloqueantes de calcio se comportan del mismo modo. Manidipino, a diferencia de otros derivados dihidropiridínicos de tercera generación, bloquea los canales de calcio T presentes en las arteriolas glomerulares eferentes, disminuyendo la presión intraglomerular y la microalbuminuria. Además, los canales T están relacionados con proliferación, inflamación, fibrosis, vasoconstricción y activación del sistema renina-angiotensina. La inhibición de estos factores podría explicar la acción no hemodinámica del manidipino frente a otros bloqueantes (AU)


The combination of renin-angiotensin system blockers with calcium channel blockers appears to be one of the most effective options for treating hypertension and diabetes. Nevertheless, not all calcium blockers behave in the same manner. Manidipine, unlike other third-generation dihydropyridine derived drugs, blocks T-type calcium channels present in the efferent glomerular arterioles, reducing intraglomerular pressure and microalbuminuria. In addition, T-type channels are related to proliferation, inflammation, fibrosis, vasoconstriction and activation of the renin-angiotensin system. The inhibition of these factors could explain the non-haemodynamic effects of manidipine as compared to other blockers (AU)


Subject(s)
Humans , Hypertension/drug therapy , Diabetes Mellitus/drug therapy , /pharmacokinetics , Calcium Channel Blockers/pharmacokinetics , Dihydropyridines/pharmacokinetics , Antihypertensive Agents/pharmacokinetics , Albuminuria/drug therapy , Oxidative Stress
13.
Nefrologia ; 31(3): 268-74, 2011.
Article in English, Spanish | MEDLINE | ID: mdl-21407275

ABSTRACT

The combination of renin-angiotensin system blockers with calcium channel blockers appears to be one of the most effective options for treating hypertension and diabetes.Nevertheless, not all calcium blockers behave in the same manner. Manidipine, unlike other third-generation dihydropyridine derived drugs, blocks T-type calcium channels present in the efferent glomerular arterioles, reducing intraglomerular pressure and microalbuminuria. In addition,T-type channels are related to proliferation, inflammation,fibrosis, vasoconstriction and activation of the renin-angiotensin system. The inhibition of these factors could explain the non-haemodynamic effects of manidipine as compared to other blockers.


Subject(s)
Albuminuria/drug therapy , Calcium Channel Blockers/metabolism , Calcium Channel Blockers/pharmacology , Dihydropyridines/pharmacology , Insulin Resistance , Oxidative Stress/drug effects , Cardiovascular Diseases , Humans , Nitrobenzenes , Piperazines
14.
Nefrologia ; 29(4): 327-30, 2009.
Article in Spanish | MEDLINE | ID: mdl-19668304

ABSTRACT

BACKGROUND: Autosomal Dominant Polycystic Kidney Disease (ADPKD) is the most common life-threatening hereditary disease. Molecular analysis with highly polymorphic short tandem repeats, located in the vicinity of the two genes responsible for the disease (PKD1 and PKD2), is used to confirm diagnosis and give genetic counseling to members of affected families. METHODS: We have developed a new assay to genotype five PKD1 and four PKD2 markers, based on two multiplex PCR reactions, and capillary electrophoresis analysis. A total of 110 subjects, belonging to 14 affected families, were genotyped to confirm the concordance with the singleplex method used previously. RESULTS: The amplicons ranged from 95 to 154 bp in length, and complete STR profiles were obtained from 1-5 ng DNA. The specificity of the multiplex PCR system was 88,5% (95%CI= 75,9-95,2), and the sensitivity, 87,9 (95%CI= 76,1-94,6). CONCLUSIONS: This is a useful strategy that, together with automated computer-based allele detection, allows reliable, simple, faster, and cheaper genetic analysis than the previous singleplex method.


Subject(s)
Polycystic Kidney, Autosomal Dominant/diagnosis , Polymerase Chain Reaction/methods , Female , Humans , Male , Microsatellite Repeats , Polycystic Kidney, Autosomal Dominant/genetics , TRPP Cation Channels/analysis , TRPP Cation Channels/genetics
15.
Nefrología (Madr.) ; 29(4): 327-330, jul.-ago. 2009. ilus, tab
Article in English | IBECS | ID: ibc-104419

ABSTRACT

Background: Autosomal Dominant Polycystic Kidney Disease (ADPKD) is the most common life-threatening hereditary disease. Molecular analysis with highly polymorphic short tandem repeats, located in the vicinity of the two genes responsible for the disease(PKD1 and PKD2), is used to confirm diagnosis and give genetic counseling to members of affected families. Methods: We have developed a new assay to genotype five PKD1 and four PKD2 markers, based on two multiplex PCR reactions, and capillary electrophoresis analysis. A total of 110 subjects, belonging to 14affected families, were genotyped to confirm the concordance with the singleplex method used previously. Results: The amplicons ranged from 95 to154 bp in length, and complete STR profiles were obtained from 1-5 ng DNA. The specificity of the multiplex PCR system was 88,5% (95%CI= 75,9-95,2),and the sensitivity, 87,9 (95%CI= 76,1-94,6).Conclusions: This is a useful strategy that, together with automated computer-based allele detection, allows reliable, simple, faster, and cheaper genetic analysis than the previous singleplex method (AU)


Introducción: La poliquistosis renal autosómica dominante (PQRAD) es la enfermedad hereditaria más frecuente con mayor amenaza para la vida. El análisis molecular de micro satélites polimórficos, localizados en torno a los genes responsables de la enfermedad (PKD1y PKD2) se utiliza para confirmar el diagnóstico y dar consejo genético. Métodos: Se desarrolló un método de genotipado para cinco marcadores de PKD1 y cuatro dePKD2, basado en dos reacciones de PCR múltiple y análisis por electroforesis capilar. Un total de 110individuos, pertenecientes a 14 familias afectas, fueron genotipados para confirmar la concordancia con el método de PCR simple usado previamente. Resultados: El rango de tamaño de los fragmentos amplificados fue desde 95 a 154 pb, y los perfiles completos demarcadores micro satélites se obtuvieron a partir de 1-5ng de ADN. La especificidad de la PCR múltiple fue del 88,5% (IC 95% 75,9-95,2), y la sensibilidad del 87,9 (IC95% 76,1-94,6). Conclusiones: Esta estrategia, junto con la detección automática de alelos, permite realizar un análisis genético fiable, sencillo, más rápido y de menor coste que el basado en amplificaciones individuales de los microsatélites (AU)


Subject(s)
Humans , Polycystic Kidney, Autosomal Dominant/genetics , Polymerase Chain Reaction/methods , Microsatellite Repeats/genetics , Alleles
16.
Nefrologia ; 29(3): 203-7, 2009.
Article in Spanish | MEDLINE | ID: mdl-19554052

ABSTRACT

From its introduction in the decade of the 70's the evolution of the calcium channel blockers has allowed to resolve the uncertainty initially generated by those first generation drugs. These, are characterized by a smaller oral availability, a fast vasodilator action and a short duration of action. Manidipine arises as a dihydropyridine calcium antagonist of third generation with real additional advantages regarding to previous generations. They show high lipophilia, a more prolonged action and as well as a prolonged average life at the level of his receptor and, in addition, some theoretical advantages among others calcium antagonists, improvements on the renal function by reducing the intraglomerular pressure and microalbuminuria. Nevertheless, the clinical evaluation of these last properties still depends on the results derived from clinical trials. Besides to go deep in its role in their antihypertensive effect, we presented a brief review on new cardiometabolic aspects of these dihydropyridines calcium antagonists focusing in manidipine.


Subject(s)
Blood Pressure/drug effects , Calcium Channel Blockers/metabolism , Calcium Channel Blockers/pharmacology , Dihydropyridines/metabolism , Dihydropyridines/pharmacology , Heart/drug effects , Humans , Nitrobenzenes , Piperazines
17.
Nefrología (Madr.) ; 29(3): 203-207, mayo-jun. 2009. ilus
Article in Spanish | IBECS | ID: ibc-104388

ABSTRACT

Desde su introducción en la década de los 70, la evolución de los calcioantagonistas ha permitido solventar la incertidumbre inicialmente generada por aquellos fármacos deprimera generación. Éstos se caracterizan por una menor disponibilidad oral, una acción vasodilatadora rápida y corta acción. El manidipino surge como un derivado dihidropiridínico de tercera generación con ventajas adicionales reales frente a las generaciones anteriores, como son su alta lipofilicidad, su acción más prolongada y una vida media prolongada a nivel del receptor y, además, algunas ventajas teóricas entre otras, mejoras sobre la función renal reduciendo la presión intraglomerular y la microalbuminuria. Sin embargo, la evaluación clínica de estas últimas propiedades depende aún de los resultados que se deriven de la experiencia clínica. Además de ahondar ensu papel en la reducción de la presión arterial, presentamos una breve revisión sobre nuevos aspectos cardiometabólicos de los calcioantagonistas dihidropiridínicos, centrándonos en el manidipino (AU)


From its introduction in the decade of the 70’s the evolution of the calcium channel blockers has allowed to resolve the uncertainty initially generated by those first-generation drugs. These, are characterized by a smaller oral availability, a fast vasodilator action and a short duration of action. Manidipine arises as a dihydropyridinecalcium antagonist of third generation with real additional advantages regarding to previous generations. They show high lipophilia, a more prolonged action and as well as a prolonged average life at the level of his receptor and, in addition, some theoretical advantages among others calcium antagonists, improvements on the renal function by reducing the intraglomerular pressure and microalbuminuria. Nevertheless, the clinical evaluation of these last properties still depends on the results derived from clinical trials. Besides to go deep in its role in their antihypertensive effect, we presented a brief review on new cardiometabolic aspects of these dihydropyridines calcium antagonists focusing in manidipine (AU)


Subject(s)
Humans , Antihypertensive Agents/pharmacokinetics , Calcium Channel Blockers/pharmacokinetics , Dihydropyridines/pharmacokinetics , Urinary Tract Physiological Phenomena , /pharmacokinetics , Angiotensin II Type 1 Receptor Blockers/pharmacokinetics , Adipogenesis
18.
Colorectal Dis ; 8(6): 488-93, 2006 Jul.
Article in English | MEDLINE | ID: mdl-16784468

ABSTRACT

OBJECTIVE: In patients with irritable bowel syndrome with constipation (IBS-C, Rome II) we determined if pelvic floor function correlates with rectal sensitivity and tone, and if the pelvic and rectal measurements correlate with symptoms. PATIENTS AND METHODS: Sensory thresholds and tone in fasting and postprandial states were evaluated with an electronic barostat in 34 patients and 10 normal controls. The pelvic floor was assessed by defaecography. RESULTS: Pain threshold to rectal distension was lower in IBS-C patients (P = 0.007). Postprandially, IBS-C patients showed lower values for sensation of gas, perception of urge, and pain threshold compared with controls. In IBS-C the anorectal angle widened less and showed less perineal mobility during defecation; the rectal tone in fasting IBS-C patients correlated with the angle at rest (P = 0.04) and with the perineal descent at rest (P = 0.01). The severity of abdominal discomfort or pain, and abdominal fullness correlated with the anorectal angle. The duration of symptoms and frequency of bowel movements correlated with perineal descent. Straining, mucus expulsion, and the feeling of incomplete evacuation correlated with rectal sensitivity variables. CONCLUSION: Patients with IBS-C have lowered sensory thresholds for noxious and non-noxious stimuli, increased visceral sensitivity after food, less perineal mobility during defecation, and symptoms that correlate with rectal sensitivity and pelvic floor parameters.


Subject(s)
Constipation/physiopathology , Pelvic Floor/physiopathology , Rectum/physiopathology , Sensation , Adult , Female , Humans , Irritable Bowel Syndrome/ethnology , Male , Mexico , Middle Aged , Postprandial Period/physiology , Sensory Thresholds , White People
19.
Ginecol Obstet Mex ; 71: 471-5, 2003 Sep.
Article in Spanish | MEDLINE | ID: mdl-14686060

ABSTRACT

OBJECTIVE: In Mexico, the cervical carcinoma is a public health problem, representing more of 36% of the neoplasms. This carcinoma has been etiologically associated with the human papillomavirus (HPV) infection and the polymerase chain reaction (PCR) has been considered as one of the most sensitive methods for its detection. The aim of this study was to determine the HPV types by PCR-RFLPs in 111 women attending in the DOC programs in Gomez Palacio, Durango. METHODS: DNA was extracted from cervix-vaginal samples as previously described and HPV were detectad using the primers MY09 and MY11. Viral type was determined according to analysis RFLPs. RESULTS: The cito-histopatologic diagnoses showed that 93 women did not present cervical alteration: 91 (91.85%) were negative HPV and two (2.15%) were VPH positive (low risk). In contrast, 18 women showed cervical alterations; 17 (94.44%) were VPH positive (11 of low risk and 6 of high risk) and only one did not present HPV infection. CONCLUSION: The distribution of types HPV observed in Gomez Palacio, Durango is according to previous study. This is essential a estimation in the development of strategies for prevention of cervical carcinoma in our region.


Subject(s)
Papillomaviridae/classification , Papillomaviridae/isolation & purification , Papillomavirus Infections/virology , Uterine Cervical Neoplasms/prevention & control , Uterine Cervical Neoplasms/virology , Adult , Female , Humans , Middle Aged , Papillomavirus Infections/epidemiology , Papillomavirus Infections/prevention & control , Uterine Cervical Neoplasms/epidemiology
20.
Gastroenterol Hepatol ; 26(6): 347-50, 2003.
Article in Spanish | MEDLINE | ID: mdl-12809571

ABSTRACT

Granulocytic sarcoma or chloroma is a malignant extra medullar tumor, based on inmature myeloid cells. It usually emerges as a secondary manifestation of acute myeloid leukemia. Chloromas are scarcely diagnosed in patiens without hematological malignances, either peripheral or medullar, and are thus frequently misdiagnosed for other tumors. In these patients, further development of acute leukemia seems to stand as a rule. Small bowel location of these tumors has hardly been reported. A case of granulocytic sarcoma in a non-leukemic at time of diagnosis patient is reported therein. Medical literature is briefly reviewed.


Subject(s)
Ileal Neoplasms/complications , Intestinal Obstruction/etiology , Jejunal Neoplasms/complications , Leukemia, Monocytic, Acute/complications , Sarcoma, Myeloid/complications , Adult , Antineoplastic Combined Chemotherapy Protocols/therapeutic use , Humans , Hydronephrosis/etiology , Ileal Neoplasms/diagnosis , Ileal Neoplasms/surgery , Jejunal Neoplasms/diagnosis , Jejunal Neoplasms/surgery , Leukemia, Monocytic, Acute/diagnosis , Leukemia, Monocytic, Acute/drug therapy , Male , Neoplasm Recurrence, Local , Remission Induction , Sarcoma, Myeloid/diagnosis , Sarcoma, Myeloid/surgery
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