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1.
Bol. malariol. salud ambient ; 61(3): 427-435, ago. 2021. tab., ilus.
Article in Spanish | LILACS, LIVECS | ID: biblio-1401404

ABSTRACT

El objetivo del trabajo fue determinar factores de riesgo asociados a la transmisión de la malaria en el municipio de Puerto Libertador, Córdoba. Se realizó un estudio observacional analítico transversal, retrospectivo, con enfoque cuantitativo de casos de malaria de zonas rurales del municipio. La información se organizó en Excel, se describieron variables sociodemográficas, aspectos clínicos de los pacientes, de vivienda y ambientales y se realizó un análisis de riesgo para establecer asociación entre las variables y la malaria, además se clasificaron especies de anofelinos vectores y se utilizaron los softwares SatScan y QGis para identificar puntos calientes de malaria en la zona de estudio. Se incluyeron 170 casos de malaria, se identificó que 92% de los individuos carecen de servicio de recolección de basuras, 86,5% sin acueducto, más del 90% no utilizan angeos, repelentes, insecticidas o fumigaciones, se encontró asociación estadística significativa (OR>1) con las aguas estancadas, la falta de acueducto y agua continua como factores de riesgo de malaria; además se clasificaron cinco especies de mosquitos que estarían involucradas en la transmisión y se identificó un punto caliente compuesto por seis veredas del municipio. La malaria en el municipio de Puerto Libertador está asociada principalmente a problemáticas sociales, que se constituyen en factores de riesgo que favorecen la incidencia de esta enfermedad. En la zona de estudio la identificación de los mosquitos Anopheles y del punto caliente, permitirán orientar las medidas de control del vector y dirigir las intervenciones a las localidades focalizadas con mayor riesgo de malaria(AU)


The objective of the work was to determine risk factors associated with the transmission of malaria in the municipality of Puerto Libertador, Córdoba. A retrospective, cross-sectional analytical observational study was carried out, with a quantitative approach to malaria cases in rural areas of the municipality. The information was organized in Excel, sociodemographic variables, clinical aspects of the patients, housing and environmental variables were described, and a risk analysis was carried out to establish an association between the variables and malaria.In addition, vector anopheline species were classified and the SatScan and QGis software to identify malaria hot spots in the study area. 170 cases of malaria were included, it was identified that 92% of the individuals lack garbage collection service, 86.5% without aqueduct, more than 90% do not use angeos, repellents, insecticides or fumigations, a significant statistical association was found ( OR> 1) with stagnant water, lack of aqueduct and continuous water as risk factors for malaria; In addition, five species of mosquitoes that would be involved in the transmission were classified and a hotspot made up of six villages in the municipality was identified. Malaria in the municipality of Puerto Libertador is mainly associated with social problems, which constitute risk factors that favor the incidence of this disease. In the study area, the identification of Anopheles mosquitoes and the hotspot will make it possible to orient vector control measures and direct interventions to targeted localities with the highest risk of malaria(AU)


Subject(s)
Humans , Male , Female , Adult , Middle Aged , Malaria, Vivax , Malaria, Falciparum , Malaria/diagnosis , Malaria/prevention & control , Malaria/transmission , Rural Areas , Incidence , Risk Factors , Colombia/epidemiology , Social Determinants of Health , Malaria/epidemiology
2.
Chinese Journal of Digestive Surgery ; (12): 1167-1172, 2021.
Article in Chinese | WPRIM | ID: wpr-908489

ABSTRACT

The European Society for Clinical Nutrition and Metabolism held the 43 rd annual academic conference online from September 9 to 14,2021. Based on reports from the con-ference, the authors launched a review on the current hot topics in clinical nutrition.

3.
J Genet ; 2020 Jan; 99: 1-5
Article | IMSEAR | ID: sea-215560

ABSTRACT

Primary ciliary dyskinesia (PCD) is a genetically heterogeneous hereditary disease caused by the structural abnormalities and dysfunction of motile cilia. The DNAH5 is the most frequently mutated gene in PCD patients and hot spot exons were reported in this gene. Here, we aim to screen mutations in a set of five hot spot exons of DNAH5 gene in a cohort of 10 clinically diagnosed Tunisian PCD patients using an optimized polymerase chain reaction-single-strand conformational polymorphism screening technique. Only one patient harboured a novel heterozygous variant in exon 63 (c.10767A[G), which was inherited from his father. This variant activates a cryptic splicing site. No deleterious mutation has been identified while screening the exons of the remaining patients. Our results show that the reported hot spot exons of DNAH5 gene are not mutated in Tunisian PCD patients. This is probably due to the differences of ethnical background of the previously reported patients. Further investigations should be performed to identify the mutations underlying PCD in this group of patients.

4.
Article | IMSEAR | ID: sea-201629

ABSTRACT

Background: Tuberculosis (TB) is a disease of public health concern, with a varying distribution across settings depending on socio-economic status, HIV burden, availability and performance of the health system. In 2017, TB caused an estimated 1.3 million deaths (range, 1.2–1.4 million) among HIV-negative people, and there were an additional 300 000 deaths from TB (range, 266 000–335 000) among HIV-positive people. The current TB program reports are often compiled and reported at higher administrative units and there is limited information about the spatial distribution of the disease. Hence, we aimed to assess the spatial distribution and hot spot areas of the disease among the patients attending a tertiary care centre in Mysore over a period of 3 years.Methods: This is a taluk based study, the spatial analysis and hot spot area identification was done by collecting the demographic data from the smear positive pulmonary tuberculosis patients attending JSS a tertiary care centre from Mysore district. Hot spot areas and areas with TB transmission are identified and estimated using GIS software tool. Distribution of TB incidence was mapped with the population density from 2016-2018.Results: Spatial mapping of smear positive tuberculosis revealed that majority of cases were recorded from Mysore city followed by T. N. Pura and Hunsur taluk regions.Conclusions: This study emphasized on finding hot spot areas and local clusters involved in TB transmission.

5.
Chinese Journal of Practical Nursing ; (36): 1115-1121, 2019.
Article in Chinese | WPRIM | ID: wpr-802694

ABSTRACT

Objective@#To grasp the research focus and development situation of the disease through the Web of Science database core journals of nearly ten years in nursing the lower respiratory disease is combing with visual analysis literature, as the nursing researchers further provided a reference for the research of this field.@*Method@#Using literature metrology method and information visualization software Citespace, from 2008 to 2017 Web of Science a stronger core journals on the respiratory system disease, a total of 2557 articles were visualized analysis, the hot spot and research frontier of knowledge graph were draw.@*Results@#The volume of lower respiratory disease in nursing has risen steadily in the past 10 years. The research focuses on pneumonia, asthma, mortality, self-management, risk factors for care and prevention, etc. The research frontier is mainly focused on the research of pulmonary embolism, deep vein thrombosis and other advanced diseases and children asthma. China and the United States have different research hot spots for lower respiratory disease in the same time zone, and China′s research hot spot is five years later than in the United States.@*Conclusion@#The research focus of lower respiratory disease in nursing field in the past ten years is mainly centered on the two centers of pneumonia and asthma. Lower respiratory disease in the field of nursing research China steadily rising trend, but compared with developed countries such as United States, England, the total number too little.So, China should draw lessons from foreign developed countries research hot spot and front, increase investment in the nursing of lower respiratory disease research.

6.
Chinese Journal of Practical Nursing ; (36): 1115-1121, 2019.
Article in Chinese | WPRIM | ID: wpr-752594

ABSTRACT

Objective To grasp the research focus and development situation of the disease through the Web of Science database core journals of nearly ten years in nursing the lower respiratory disease is combing with visual analysis literature, as the nursing researchers further provided a reference for the research of this field. Method Using literature metrology method and information visualization software Citespace, from 2008 to 2017 Web of Science a stronger core journals on the respiratory system disease, a total of 2557 articles were visualized analysis, the hot spot and research frontier of knowledge graph were draw. Results The volume of lower respiratory disease in nursing has risen steadily in the past 10 years. The research focuses on pneumonia, asthma, mortality, self-management, risk factors for care and prevention, etc. The research frontier is mainly focused on the research of pulmonary embolism, deep vein thrombosis and other advanced diseases and children asthma. China and the United States have different research hot spots for lower respiratory disease in the same time zone, and China′s research hot spot is five years later than in the United States. Conclusion The research focus of lower respiratory disease in nursing field in the past ten years is mainly centered on the two centers of pneumonia and asthma. Lower respiratory disease in the field of nursing research China steadily rising trend, but compared with developed countries such as United States, England, the total number too little.So, China should draw lessons from foreign developed countries research hot spot and front, increase investment in the nursing of lower respiratory disease research.

7.
World Journal of Emergency Medicine ; (4): 33-41, 2019.
Article in English | WPRIM | ID: wpr-787587

ABSTRACT

BACKGROUND@# Less attention is directed toward gaining a better understanding of the burden and prevention of injuries, in low and middle income countries (LMICs). We report the establishment of a trauma registry at the Adult Emergency and Trauma Centre (AETC) at Queen Elizabeth Central Hospital (QECH) in Blantyre, Malawi and identify high risk geographic areas.@*METHODS@# We devised a paper based two-page trauma registry form. Ten data clerks and all AETC clinicians were trained to complete demographic and clinical details respectively. Descriptive data, regression and hotspot analyses were done using STATA 15 statistical package and ArcGIS (16) software respectively.@*RESULTS@#There were 3,747 patients from May 2013 to May 2015. The most common mechanisms of injury were assault (38.2%), and road traffic injuries (31.6%). The majority had soft tissue injury (53.1%), while 23.8% had no diagnosis indicated. Fractures (OR 19.94 [15.34–25.93]), head injury and internal organ injury (OR 29.5 [16.29–53.4]), and use of ambulance (OR 1.57 [1.06– 2.33]) were found to be predictive of increased odds of being admitted to hospital while assault (OR 0.69 [0.52–0.91]) was found to be associated with less odds of being admitted to hospital. Hot spot analysis showed that at 99% confidence interval, Ndirande, Mbayani and Limbe were the top hot spots for injury occurrence.@*CONCLUSION@# We have described the process of establishing an integrated and potentially sustainable trauma registry. Significant data were captured to provide details on the epidemiology of trauma and insight on how care could be improved at AETC and surrounding health facilities. This approach may be relevant in similar poor resource settings.

8.
Chinese Journal of Reparative and Reconstructive Surgery ; (12): 849-853, 2018.
Article in Chinese | WPRIM | ID: wpr-856731

ABSTRACT

Bone lengthening technique is one of the core surgical technique for skeletal lengthening and reconstruction. It is widely used in the treatment of nonunion, segmental bone defect, bone infection, congenital or post-traumatic limb length differences, and hand-foot deformity correction. Until today, the surgical techniques and devices of bone lengthening are improving over time, and it is to improve the quality of treatment and reduce complications. However, the bone lengthening technique is different from the treatment for other orthopedic diseases, and it has the following feature, including requiring multiple steps, longer treatment course, and application of external fixator. This article will summarize the hot research in the field of bone lengthening treatment in recent years and provide reference for future clinical treatment.

9.
Chinese Journal of Experimental and Clinical Virology ; (6): 492-497, 2017.
Article in Chinese | WPRIM | ID: wpr-808819

ABSTRACT

Objective@#To investigate the hot spots and epidemiologic characteristics of hand, foot and mouth disease (HFMD) in Jinan municipality from 2009 to 2016.@*Methods@#Disease reports of HFMD in Jinan from 2009-2016 were collected and analyzed with ArcGis 10.2 to show the hot spot in different villages and towns, as well as clustering analysis and descriptive epidemiology to show epidemiologic characteristics.@*Results@#A total of 89 486 HFMD cases were reported and the reported annual incidence rate was 160.94/100000 during the 7-year period, which increased year by year, and within the whole city, each county was at a higher epidemic level; the curve of incidence is unimodal and the incidence peak occurred mostly between May and August, especially in June; 115 severe cases were reported and the ratio was 0.13%. Of the reported cases, 81.51% were between 1 to 4 years old; 60.36 % were children living scattered. The hot spots were like a circle surrounding the core areas, showing a tendency of increase; the proportion of EV71, CVA16 and other enteroviruses were 33.67%、37.22%and 29.09%, respectively, and they appeared in turn, but severe cases were mostly affected by EV71.@*Conclusions@#The HFMD in Jinan is in a highly prevalent level, with low ratio of severe cases. Seasonal(high in summer) and unimodal; more common among children between 1 to 4 years old, living scatted and in urban and rural linking areas, with the tendency of increasing of hot spots; prevalent pathogens appear in turn.

10.
Chinese Medical Equipment Journal ; (6): 38-42, 2017.
Article in Chinese | WPRIM | ID: wpr-511348

ABSTRACT

Objective To analyze the history and present situation of international medical device with visualization softwareto provide references for medical device development in China.Methods CiteSpace visualization software was used to explore international literatures related to medical device from the aspects of yearly quantity,research direction,research organization,quoted literature and etc from 2005 to 2014.Results Medical device drew increasing attention from corresponding researchers,whose development depended on international cooperation.Medical device related closely to engineering and medicine,and had to paid attention to informatization and clinical requirements.Conclusion CiteSpace software is of great value for the study on medical device.

11.
Health Policy and Management ; : 233-241, 2016.
Article in Korean | WPRIM | ID: wpr-166367

ABSTRACT

BACKGROUND: This study purposed to analyze and understand how spatial accessibility of patients influenced the number of outpatient visits for the internal medicine of a hospital. METHODS: A hospital with 100 beds in Seoul, South Korea provided data from 2013 January 1 to 2013 June 30. Euclidean distance and road ares were used to represent the spatial accessibility. Patient level data and dong level data were collected and used in spatial analysis. Dong level data was converted into grid level (500×500 m) for the multivariate analysis. Hot-spot analysis and generalized linear model were applied to the data collected. RESULTS: Hot-spots of outpatient visits were found around the study hospital, and cold-spots were not found. Number of outpatient visits was varied by the distance between patient resident and hospitals, and about 80% of total outpatient visits was occurred in within the 5 km from study hospital, and 50% was occurred in within 1.6 km. Spatial accessibility had significant influences on the outpatient visits. CONCLUSION: Findings provide evidences that spatial accessibility had influences on the patients' behaviors in utilizing the outpatient care of internal medicine in a hospital. Results can provide useful information to health policy makers as well as hospital managers for their decision making.


Subject(s)
Humans , Ambulatory Care , Decision Making , Health Policy , Internal Medicine , Korea , Linear Models , Multivariate Analysis , Outpatients , Seoul , Spatial Analysis
12.
Chinese Journal of Epidemiology ; (12): 94-97, 2016.
Article in Chinese | WPRIM | ID: wpr-248724

ABSTRACT

Objective To predict the potential geographic distribution of Lyme disease in Qinghai by using Maximum Entropy model (MaxEnt).Methods The sero-diagnosis data of Lyme disease in 6 counties (Huzhu,Zeku,Tongde,Datong,Qilian and Xunhua) and the environmental and anthropogenic data including altitude,human footprint,normalized difference vegetation index (NDVI) and temperature in Qinghai province since 1990 were collected.By using the data of Huzhu Zeku and Tongde,the prediction of potential distribution of Lyme disease in Qinghai was conducted with MaxEnt.The prediction results were compared with the human sero-prevalence of Lyme disease in Datong,Qilian and Xunhua counties in Qinghai.Results Three hot spots of Lyme disease were predicted in Qinghai,which were all in the east forest areas.Furthermore,the NDVI showed the most important role in the model prediction,followed by human footprint.Datong,Qilian and Xunhua counties were all in eastern Qinghai.Xunhua was in hot spot area Ⅱ,Datong was close to the north of hot spot area Ⅲ,while Qilian with lowest sero-prevalence of Lyme disease was not in the hot spot areas.The data were well modeled in MaxEnt (Area Under Curve=0.980).Conclusions The actual distribution of Lyme disease in Qinghai was in consistent with the results of the model prediction.MaxEnt could be used in predicting the potential distribution patterns of Lyme disease.The distribution of vegetation and the range and intensity of human activity might be related with Lyme disease distribution.

13.
Chinese Journal of Medical Library and Information Science ; (12): 69-75, 2016.
Article in Chinese | WPRIM | ID: wpr-502955

ABSTRACT

Papers published by 70 public hospitals in Jilin Province from 2011 to 2015 were retrieved from CNKI, China Citations Database, and Wanfang Database. The scientific papers and their research hot spots were analyzed in aspects of the total number of published papers and different institutions-published papers, high output authors, cited papers, journals that published the papers, and foundation-supported papers in order to provide reference for subsequent research and policy-making.

14.
Health Policy and Management ; : 285-294, 2015.
Article in Korean | WPRIM | ID: wpr-42772

ABSTRACT

BACKGROUND: Suicide is one of important health problems in Korea. Previous studies showed factors associated with suicide in individual levels. However, suicide was influenced by society that individuals belong to, so it was required to analyze suicide in local levels. The purpose of this study was to analyze the regional disparities of suicide mortality by gender and the association between local characteristics and suicide mortality. METHODS: This study included 229 city.county.district administrative districts in Korea. Age- and sex-standardized suicide mortality and age-standardized suicide mortality (male/female) were used as dependent variables. City.county.district types, socio-demographics (number of divorces per 1,000 population, number of marriages per 1,000 population, and single households), financial variable (financial independence), welfare variable (welfare budget), and health behavior/status (perceived health status scores and EuroQol-5 dimension [EQ-5D]) were used to represent the local characteristics. We used hot-spot analysis to identify the spatial patterns of suicide mortality and negative binomial regression analysis to examine factors affecting suicide mortality. RESULTS: There were differences in distribution of suicide mortality and hot-spot regions of suicide mortality by gender. Negative binomial regression analysis provided that city.county.district types (city), number of divorces per 1,000 population, financial independence, and EQ-5D had significant influences on the age- and sex-standardized suicide mortality per 100,000. Factor influencing suicide mortality was the number of divorces per 1,000 population in both male and female. CONCLUSION: Study results provided evidences that suicide mortality among regions was differed by gender. Health policy makers will need to consider gender and local characteristics when making policies for suicides.


Subject(s)
Female , Humans , Male , Divorce , Health Policy , Korea , Marriage , Mortality , Spatial Analysis , Suicide
15.
World Science and Technology-Modernization of Traditional Chinese Medicine ; (12): 907-915, 2015.
Article in Chinese | WPRIM | ID: wpr-463991

ABSTRACT

Tai Chi Chuanis a traditional Chinese method of regimen and health care, which has attracted wide attention from countries in the world. This article was aimed to analyze the current situation and hot spots about Tai Chi Chuan for future research. A total of 1349 articles were retrieved from Web of Science from 1981 to 2013. CiteSpace was used to map knowledge domain of 1349 articles in order to explore the current situation and hot spots aboutTai Chi Chuan internationally. The results showed that the research onTai Chi Chuan showed a rising trend. The main research regions were in the United States and China. The research fields were extended from medicine and sport science to psychology, engineering and computer science. The hot spots were focused on physical control, psychology and cardiovascular diseases. It was concluded thatTai Chi Chuan was a method benefit to both physical and mental health. The focus of future Tai Chi Chuan research was on basic theory, action mechanism and strict evidences.

16.
Chinese Journal of Medical Library and Information Science ; (12): 50-54,60, 2015.
Article in Chinese | WPRIM | ID: wpr-600012

ABSTRACT

Objective To mine the relation between leukemia and genes using Weka. Methods The papers on leuke-mia and genes were retrieved from PubMed, their subject headings and subheadings were extracted using BICOMB to generate co-occurrence matrix and term-paper matrix. The research hotspots were found by cluster analysis of the data on co-occurrence matrix using Weka and Cobweb. The literature was verified. Results The 42 high fre-quency words were clustered into 7 classes by Weka. No high frequency words of leukemia or genes were found in classes 1, 2, 4 and 5, indicating that their clustering efficiency was poor. The clustering efficiency of the other 3 classes was good. Conclusion Cluster analysis showed that leukemia is related with myc gene, ab1 gene, p53 gene, virus gene, immunoglobulin gene and mdm gene.

17.
Journal of Preventive Medicine ; (12): 653-656,690, 2015.
Article in Chinese | WPRIM | ID: wpr-792419

ABSTRACT

Objective To investigate the spatial and temporal distribution of highly pathogenic avian influenza H5N1 based on Geography Information System (GIS),and to learn the mechanism of the occurrence and spread of H5N1.Methods A total of 2 069 officially confirmed cases of H5N1 outbreak reported to WHO and World Organization for Animal Health (OIE)from 2003 to 2012 were analyzed using a GIS based approach.Hot spot analysis (Getis-Ord Gi*)was used in the spatial and temporal analysis.Results From 2003 to 2012,2 069 cases of H5N1 outbreak was reported in Vietnam (1 055),Bangladesh (528)and Indonesia (209).The most of the outbreaks were reported in Ganges Delta,Mekong Delta,areas around Dacca and West Java.The occurrence,spread and distribution pattern of the disease varied within different spatial scale,and the epidemic showed a bipolar distribution in Vietnam,aradial distribution in Bangladesh and a shrinking pattern in Indonesia.Conclusion Highly pathogenic avian influenza H5N1 was first emerged in city and then spread through poultry trading or transportation,and finally caused epidemic in regions with high density poultry and intensive agriculture.Hot spot analysis had a great application value in disease surveillance and early warning.

18.
Bol. malariol. salud ambient ; 54(2): 236-249, dic. 2014. ilus, tab
Article in Spanish | LILACS | ID: lil-740289

ABSTRACT

La malaria es endemo-epidémica en el estado Bolívar, con brotes epidémicos frecuentes debido a causas naturales y antrópicas. En el municipio Sifontes, ubicado en el noreste del estado, durante el último decenio se ha registrado un aumento considerable de los casos, cerrando 2013 con 46.610 casos, 71% % de la malaria del estado y 61% del país. Este es un foco meso-endémico de malaria inestable donde la transmisión ocurre durante todo el año, con brotes epidémicos estrechamente relacionados con la minería aurífera. A partir de 1983, gran parte de la malaria en Venezuela depende de la generada en el estado Bolívar, y esta a su vez de la generada en el municipio Sifontes. La revisión de la data de malaria del estado en el periodo 1980-2013 reveló la existencia de dos niveles epidemiológicos, uno basal y otro adicional, este último ligado a la minería aurífera; sin embargo, no se encontró correlación con la lluvia, para el nivel basal (R = 0,41, P= 0,78) ni para el nivel epidémico (R = 0,41; P = 0,32). Asimismo, la proyección geográfica de los datos reveló la naturaleza focal de la enfermedad en el municipio, el cual reúne todas las condiciones epidemiológicas, ambientales, climáticas y sociales para ser considerado un foco caliente. Las características espaciales y temporales de la malaria en el municipio Sifontes lo configuran como el foco de malaria más importante en Venezuela, el cual debe ser priorizado en los planes de control de la enfermedad.


Malaria is endemo-epidemic in Bolívar state with frequent epidemic outbreaks occurring due to both natural and anthropic factors. The Sifontes municipality, located in the northeastern corner of the state, has reported a considerable increase in the number of cases over the last decade; with 46.610 cases registered during 2013. This represents 71% of the number of malaria cases reported for the state and 61% for the country in this same year. Sifontes municipality is a meso-endemic focus of unstable malaria, and transmission occurs throughout the year with epidemic outbreaks tightly linked to gold mining activities. Since 1988 the increase in the number of cases reported in Venezuela has been determined by the number of cases reported in Bolívar state which, in turn, is correlated with the number of cases reported in Sifontes. A review of malaria data between 1980 and 2013 reveals the existence of two epidemiological categories: a base level and an additional level, the latter associated with gold mining; nevertheless, there was not correlation whit the rainfall for basal (R = 0,41, P= 0,78) or additional level (R = 0,41; P = 0,32). In addition, a geographic plotting of the data revealed the focal nature of malaria in the municipality, which to gather all environmental, climatic, social and epidemiological factors that have produced conditions typical of a hot spot. The spatial and temporal characteristics of malaria in the Sifontes municipality demonstrates that this is the most important malaria focus in Venezuela, and must be prioritized when designing strategies for the control of this disease.

19.
Gac. méd. Méx ; 144(1): 1-6, ene.-feb. 2008. ilus, tab, graf
Article in Spanish | LILACS | ID: lil-568149

ABSTRACT

Antecedentes: El gen PMP22 se encuentra duplicado en pacientes con Charcot-Marie-Tooth 1A (CMT1A); se ha descrito que el origen de la duplicación es el intercambio desigual de las cromátidas durante la meiosis entre dos regiones de 24 kb denominadas sitios REPCMT1A, encontrándose un REP proximal y un REP distal, los cuales tienen una homología de 98%. Dentro de cada uno de estos sitios existen zonas denominadas puntos calientes de mutación (hot spot), donde se presenta el mayor número de variantes y mutaciones que pudieran dar origen al intercambio desigual. El objetivo de este trabajo fue diseñar un conjunto de microsondas para elaborar un microarreglo con el cual pueda detectarse la presencia de variantes y puntos de mutación en los sitios REP-proximal y REP-distal CMT1A. Material y métodos A partir de las secuencias informadas de los REP distal y proximal, se delimitaron los sitios hot spot dentro de las regiones proximal y distal. Estas secuencias se alinearon, se empalmaron y se detectaron 12 zonas de diferencia secuencial. Resultados y conclusiones. Se diseñaron y analizaron 24 microsondas mediante el programa Genosensor Probe Designer. Las sondas podrán ser sintetizadas y utilizadas en un microarreglo que permita encontrar variaciones, puntos de mutación, y facilitar el diagnóstico de pacientes con CMT1A.


BACKGROUND: Gene PMP22 is duplicated in patients with CMT1A. Duplication is due to an unequal chromatid interchange during meiosis that takes place between two 24 Kb regions named REP-CMT1A proximal and distal sites. Homology is approximately 98%. Within each one of the sites we find zones termed hot spots where a greater number of variants and mutations could give origin to an unequal interchange. The aim of this study was to design a set of probes to create a microarray that could detect the presence of variants and mutation points in distal and proximal REP sites among patients with CMT1A. MATERIAL AND METHODS: With reported sequences of distal and proximal REPs, we determined hot spot sites within proximal and distal regions. These sequences were aligned and matched, hence 12 zones were detected. RESULTS AND CONCLUSIONS: Twenty four probes were designed and analyzed using the Genosensor Probe Designer program. Probes could be synthesized and used in a microarray that is able to find variations and mutation points and facilitates diagnosis of patients with CMT1A.


Subject(s)
Humans , Oligonucleotide Array Sequence Analysis/methods , Charcot-Marie-Tooth Disease/genetics , Myelin Proteins/genetics , Proteins/genetics
20.
Journal of Breast Cancer ; : 113-117, 2005.
Article in Korean | WPRIM | ID: wpr-90762

ABSTRACT

PURPOSE: Bone is the most common site of metastasis from breast cancer. An abnormal bone scan finding, however, is not specific in differentiation of bone metastasis from traumatic or inflammatory bone diseases. The purpose of this study was to identify clinical findings that could help evaluate the etiology of solitary costal hot spots on a bone scan. METHODS: The study included 32 patients (all women, mean age 51+/-1 years) showing solitary costal hot spots on postoperative bone scans performed between January 1998 and December 2002. In order to classify the etiology of solitary costal hot spots as non-malignant or malignant, all available clinical, scintigraphic, laboratory and other radiographic examinations were taken into consideration. RESULTS: The mean follow-up period was 42.5 months. Among 32 hot spots, 7 (21.8%) were metastatic, and the remaining 25 (78.2%) non-malignant. The mean period of first detection after operation was 17.0+/-16.3 months in the metastatic and 26.0+/-21.3 months in the non-malignant groups. The metastatic group was significantly associated with advanced breast cancer. In the localization of rib lesion, 20 (62.5%) of the solitary costal hot spots were in the anterior arc, 5 (15.6%) in the lateral arc and 7 (21.9%) in the posterior arc. In the group with a location at the anterior arc, 16 (80%) were non-malignant, whereas 4 (20%) were malignant. In those localized at the anterior arc, 12 (60%) were on ipsilateral and 8 (28%) were on contralateral. The difference between the hot spots in the ipsilateral and contralateral locations was not significant. The carcinoembryonic antigen (CEA) and CA15-3 were elevated: in 5 (51%) and 3 (43%) patients with metastatic spots, and in 4 (16%) and 1 (4%) patient with non-malignant lesions, which were significantly different. CONCLUSION: It was found that an advanced state of primary breast cancer and the increase of tumor markers (CEA and CA15-3) were the significant factors for the direction of the nature of solitary costal hot spots on postoperative bone scans in patients with breast cancer.


Subject(s)
Female , Humans , Bone Diseases , Breast Neoplasms , Breast , Carcinoembryonic Antigen , Follow-Up Studies , Neoplasm Metastasis , Ribs , Biomarkers, Tumor
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