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1.
Health Care Women Int ; 42(12): 1358-1378, 2021 12.
Artículo en Inglés | MEDLINE | ID: mdl-33900158

RESUMEN

The aims were to investigate determinants of the quality of life (QoL) of pregnant women. Total of 302 healthy women 18 to 28 weeks of gestation participated in prospective study. WHOQOL-bref, Multidimensional Health Locus of Control scales, Edinburgh Postnatal Depression Scale, and the perceived stress appraisals were administered. Various patterns of predictors for four domains of QoL were identified, for psychological (42% variance explained), social relationship (29%), environmental (29%) and physical health (25%). Depression and hope, together with the extent to which one's health is influenced by powerful other or chance should be targeted in health promotion strategies during pregnancy.


Asunto(s)
Equipo Infantil , Calidad de Vida , Cohorte de Nacimiento , Estudios de Cohortes , Depresión/epidemiología , Femenino , Humanos , Control Interno-Externo , Islas , Embarazo , Mujeres Embarazadas , Estudios Prospectivos , Encuestas y Cuestionarios
2.
PLoS One ; 14(6): e0218206, 2019.
Artículo en Inglés | MEDLINE | ID: mdl-31185040

RESUMEN

Hepatitis C viral (HCV) infection is associated with systemic inflammation and metabolic complications that might predispose patients to atherosclerosis, including cerebrovascular atherosclerosis. The aim of this study was to assess cerebrovascular reactivity in patients with chronic hepatitis C. Seventeen patients with chronic hepatitis C infection, as well as 11 healthy blood donors in the control group, were assessed for cerebrovascular reactivity according to the well-established breath-holding test that uses the transcranial color Doppler for measurement of blood flow velocity. Results obtained during the breath-holding revealed significantly lower average peak systolic (AvPS start, P = 0.018), end-diastolic (AvED start, P = 0.031) and mean velocity values at the very beginning of the breath-holding procedure (AvmeanV start, P = 0.02), as well as a lower mean peak systolic velocity at the end of the breath-holding test (AvPS max, P = 0.02) in the hepatitis C group. Vascular reactivity values, calculated as the breath-holding index, were also significantly lower (P = 0.045) in the hepatitis C group. In conclusion, the results of this study suggest an association between chronic HCV infection and altered cerebrovascular reactivity which may ultimately have an unfavorable effect on cerebrovascular hemodynamics and lead to increased risk of cerebrovascular diseases.


Asunto(s)
Circulación Cerebrovascular , Hepatitis C Crónica , Ultrasonografía Doppler Transcraneal , Adulto , Velocidad del Flujo Sanguíneo , Femenino , Hepatitis C Crónica/diagnóstico por imagen , Hepatitis C Crónica/fisiopatología , Humanos , Masculino , Persona de Mediana Edad
3.
Anat Rec (Hoboken) ; 300(9): 1535-1546, 2017 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-28390151

RESUMEN

In the identification process of historical figures, and especially in cases of Saint's bodies or mummified remains, any method that includes physical encroachment or sampling is often not allowed. In these cases, one of the few remaining possibilities is the application of nondestructive radiographical and anthropological methods. However, although there have been a few attempts of such analyses, no systematic standard methodology has been developed until now. In this study, we developed a methodological approach that was used to test the authenticity of the alleged body of Saint Paul the Confessor. Upon imaging the remains on MSCT and post-processing, the images were analyzed by an interdisciplinary team to explore the contents beneath the binding media (e.g., the remains) and to obtain osetobiographical data for comparison with historical biological data. Obtained results: ancestry, sex, age, occupation, and social status were consistent with historical data. Although the methodological approach proved to be appropriate in this case, due to the discrepancy in the amount of data, identity could not be fully confirmed. Nonetheless, the hypothesis that the remains do not belong to St. Paul was rejected, whilst positive identification receives support. Anat Rec, 300:1535-1546, 2017. © 2017 Wiley Periodicals, Inc.


Asunto(s)
Identificación Biométrica , Personajes , Esqueleto/diagnóstico por imagen , Determinación de la Edad por el Esqueleto , Cadáver , Croacia , Humanos
4.
Acta Med Acad ; 42(1): 61-70, 2013.
Artículo en Inglés | MEDLINE | ID: mdl-23735068

RESUMEN

To respond to ever increasing complexity of health care professions, education of nurses, midwives, physiotherapists, radiology engineers, and medical laboratory workers, has been upgraded to pregraduate, graduate and postgraduate university levels. In Croatia, nursing was defined as a branch of clinical medical science in 1997. Croatia and Bosnia and Herzegovina have introduced first two levels, but there is a strong need for the third one (doctoral degree). It should last three years and contain 180 ECTS points. It includes acquisition of evidence-based advanced health care, and the ability for independent research and critical analysis. Doctoral degrees in health professions are instrumental for academic careers of faculty of health professions. Yet this will not separate them from their patients or make them administrators, as the majority of their work will still be spent alongside patients.


Asunto(s)
Curriculum , Educación de Postgrado en Medicina/legislación & jurisprudencia , Educación de Postgrado en Medicina/métodos , Empleos en Salud/educación , Empleos en Salud/legislación & jurisprudencia , Actitud del Personal de Salud , Bosnia y Herzegovina , Croacia , Educación de Postgrado en Enfermería/legislación & jurisprudencia , Educación de Postgrado en Enfermería/métodos , Humanos
5.
J Forensic Leg Med ; 20(1): 40-5, 2013 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-23217374

RESUMEN

BACKGROUND: Dental age estimation in children plays an important role in forensic dentistry. The most commonly used method for age estimation was developed by Demirjian in 1973 on a French-Canadian sample. It generally overestimates dental age in many populations. International maturity standards were formed to obtain a predicted age with more confidence when ethnic origin was not available. OBJECTIVES: The aim of this study was to evaluate the applicability of Chaillet's international scores in the dental age assessment on Bosnian Herzegovinian (BH) children. METHODS: Orthopantomograms of 1772 children, 980 girls and 792 boys aged 6.04-14.90 years, were assessed using Chaillet's international maturity tables and curves. The dental ages for both genders were compared to the chronological ages through a paired t-test. RESULTS: Mean overestimation using Chaillet's international maturity standards were 0.09 ± 0.83 for girls and 0.28 ± 0.90 for boys. The absolute accuracy of residuals between the dental and chronological age were 0.65 ± 0.52 years for girls (Median: 0.52 years) and 0.73 ± 0.60 years for boys (Median: 0.57 years). CONCLUSION: The Polynomial compound formula was recommended to predict dental age with more accuracy for results of international maturity standards on BH children.


Asunto(s)
Determinación de la Edad por los Dientes/métodos , Calcificación de Dientes , Adolescente , Bosnia y Herzegovina , Niño , Femenino , Odontología Forense , Humanos , Masculino , Conceptos Matemáticos , Radiografía Panorámica , Reproducibilidad de los Resultados
6.
Nat Genet ; 43(11): 1082-90, 2011 Sep 25.
Artículo en Inglés | MEDLINE | ID: mdl-21946350

RESUMEN

Pulmonary function measures reflect respiratory health and are used in the diagnosis of chronic obstructive pulmonary disease. We tested genome-wide association with forced expiratory volume in 1 second and the ratio of forced expiratory volume in 1 second to forced vital capacity in 48,201 individuals of European ancestry with follow up of the top associations in up to an additional 46,411 individuals. We identified new regions showing association (combined P < 5 × 10(-8)) with pulmonary function in or near MFAP2, TGFB2, HDAC4, RARB, MECOM (also known as EVI1), SPATA9, ARMC2, NCR3, ZKSCAN3, CDC123, C10orf11, LRP1, CCDC38, MMP15, CFDP1 and KCNE2. Identification of these 16 new loci may provide insight into the molecular mechanisms regulating pulmonary function and into molecular targets for future therapy to alleviate reduced lung function.


Asunto(s)
Estudio de Asociación del Genoma Completo , Pruebas de Función Respiratoria , Niño , Humanos , Enfermedad Pulmonar Obstructiva Crónica/genética , Enfermedad Pulmonar Obstructiva Crónica/fisiopatología , Población Blanca
7.
PLoS One ; 6(5): e19382, 2011.
Artículo en Inglés | MEDLINE | ID: mdl-21625484

RESUMEN

RATIONALE: Lung function measures are heritable traits that predict population morbidity and mortality and are essential for the diagnosis of chronic obstructive pulmonary disease (COPD). Variations in many genes have been reported to affect these traits, but attempts at replication have provided conflicting results. Recently, we undertook a meta-analysis of Genome Wide Association Study (GWAS) results for lung function measures in 20,288 individuals from the general population (the SpiroMeta consortium). OBJECTIVES: To comprehensively analyse previously reported genetic associations with lung function measures, and to investigate whether single nucleotide polymorphisms (SNPs) in these genomic regions are associated with lung function in a large population sample. METHODS: We analysed association for SNPs tagging 130 genes and 48 intergenic regions (+/-10 kb), after conducting a systematic review of the literature in the PubMed database for genetic association studies reporting lung function associations. RESULTS: The analysis included 16,936 genotyped and imputed SNPs. No loci showed overall significant association for FEV(1) or FEV(1)/FVC traits using a carefully defined significance threshold of 1.3×10(-5). The most significant loci associated with FEV(1) include SNPs tagging MACROD2 (P = 6.81×10(-5)), CNTN5 (P = 4.37×10(-4)), and TRPV4 (P = 1.58×10(-3)). Among ever-smokers, SERPINA1 showed the most significant association with FEV(1) (P = 8.41×10(-5)), followed by PDE4D (P = 1.22×10(-4)). The strongest association with FEV(1)/FVC ratio was observed with ABCC1 (P = 4.38×10(-4)), and ESR1 (P = 5.42×10(-4)) among ever-smokers. CONCLUSIONS: Polymorphisms spanning previously associated lung function genes did not show strong evidence for association with lung function measures in the SpiroMeta consortium population. Common SERPINA1 polymorphisms may affect FEV(1) among smokers in the general population.


Asunto(s)
Biomarcadores/metabolismo , Genoma Humano , Estudio de Asociación del Genoma Completo , Pulmón/fisiopatología , Metaanálisis como Asunto , Enfermedad Pulmonar Obstructiva Crónica/genética , Volumen Espiratorio Forzado , Predisposición Genética a la Enfermedad , Humanos , Polimorfismo de Nucleótido Simple/genética , Enfermedad Pulmonar Obstructiva Crónica/epidemiología , Pruebas de Función Respiratoria , Reino Unido/epidemiología , Capacidad Vital
8.
Med Sci Sports Exerc ; 43(11): 2095-101, 2011 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-21552160

RESUMEN

PURPOSE: Apnea divers hyperinflate the lung by taking a deep breath followed by glossopharyngeal insufflation. The maneuver can lead to symptomatic arterial hypotension. We tested the hypotheses that glossopharyngeal insufflation interferes with cardiac function further reducing cardiac output (CO) using cardiac magnetic resonance imaging (MRI) to fully sample both cardiac chambers. METHODS: Eleven dive athletes (10 men, 1 woman; age = 26 ± 5 yr, body mass index = 23.5 ± 1.7 kg·m(-2)) underwent cardiac MRI during breath holding at functional residual capacity (baseline), at total lung capacity (apnea), and with submaximal glossopharyngeal insufflation. Lung volumes were estimated from anatomic images. Short-axis cine MR images were acquired to study biventricular function. Dynamic changes were followed by long-axis cine MRI. RESULTS: Left and right ventricular end-diastolic volumes (LVEDV, RVEDV) decreased during apnea with and without glossopharyngeal insufflation (baseline: LVEDV = 198 ± 19 mL, RVEDV = 225 ± 30 mL; apnea: LVEDV = 125 ± 38 mL, RVEDV = 148 ± 37 mL, P < 0.001; glossopharyngeal insufflation: LVEDV = 108 ± 26 mL, RVEDV = 136 ± 29 mL, P < 0.001 vs baseline). CO decreased during apnea (left = -29 ± 4 %, right = -29 ± 4 %) decreasing further with glossopharyngeal insufflation (left = -38% ± 4%, right = -39% ± 4%, P < 0.05). HR increased 16 ± 4 bpm with apnea and 17 ± 5 bpm with glossopharyngeal insufflation (P < 0.01). Ejection fraction moderately decreased (apnea: left = -5% ± 2%, right = -7% ± 2%, glossopharyngeal insufflation: left = -6% ± 2%, right = -10% ± 2%, P < 0.01). With continued apnea with and without glossopharyngeal insufflation, LVEDV and CO increased over time by a similar but small amount (P < 0.01). CONCLUSIONS: The major finding of our study was that submaximal glossopharyngeal insufflation decreased CO further albeit by a small amount compared to maximal inspiratory apnea. The response was not associated with severe biventricular dysfunction.


Asunto(s)
Apnea/complicaciones , Buceo/fisiología , Corazón/fisiología , Imagen por Resonancia Magnética/métodos , Adulto , Arterias , Gasto Cardíaco Bajo/diagnóstico , Femenino , Alemania , Humanos , Hipotensión/etiología , Insuflación , Masculino , Capacidad Pulmonar Total/fisiología , Adulto Joven
9.
Croat Med J ; 51(5): 383-95, 2010 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-20960588

RESUMEN

AIM: To analyze the present status and ongoing reforms of nursing education in Europe, to compare it with the situation in Croatia, and to propose a new educational model that corresponds to the needs of the Croatian health care system. METHODS: The literature on contemporary nursing education in Europe and North America was reviewed, together with European Commission directives and regulations, as well as pertinent World Health Organization documents. In addition, 20 recent annual reports from 2003-2009, submitted by national nursing associations to the Workgroup of European Nurse Researchers (WERN), were studied. RESULTS: After appraisal of current trends, the Working Group on Reform of Nursing Education drafted The Croatian Model for Education in Nursing and developed a three-cycle curriculum with syllabus. The proposed curriculum is radically different from traditional ones. Responding to modern demands, it focuses on outcomes (developing competencies) and is evidence-based. CONCLUSIONS: A new, Croatian concept of nursing education is presented that is concordant with reforms in nursing education in other European countries. It holds promise for making nursing education an integral part of a unified European system of higher education.


Asunto(s)
Educación en Enfermería/organización & administración , Modelos Organizacionales , Croacia , Literatura de Revisión como Asunto
10.
Coll Antropol ; 34 Suppl 1: 113-23, 2010 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-20402306

RESUMEN

Results of our analysis show as that breast reconstruction become a standard part of the care of female patients with breast cancer We will analyse the factors that are important for the primary or secondary breast reconstruction after mastectomy, and also take a closer look on the most recent scientific advances on breast reconstruction and on the protocols regarding them. The breast is the most common site of cancer in Croatia women. Breast cancer is the first leading cause of cancer death among women today. The incidence of female breast cancer in Croatia estimates that approximately 2.200 news cases of female breast will be diagnosed every year. We retrospectively analysed data of 101 female patients undergoing reconstructive surgery for breast reconstruction after mastectomy at Division of Plastic Surgery and Burns, University Hospital Center Split and University Clinic of Plastic and Reconstructive Surgery, Innsbruck, Austria, between 1998 and 2008. For the purpose of outcome assessment, we performed the tree different type of questionnaire: (1) Personal/medical profile (Table 1), (2) Aesthetic assessment (Table 2), and (3) Psychosocial assessment (Table 3). The occurrence of main complications during breast reconstruction (partial necrosis of flap, hernia of donor site, pulmonary embolism, deep venous thrombosis, infection rate, hemathoma and seroma formation, and extrusion of expander/implant) during hospitalisation and follow up period until 6 post operatively were analysed with respect to use different type of reconstructive methods for breast reconstruction. The difference in complication between patients groups was evaluated by chi2-test. The level of significance was set up at p = 0.05. Mann-Whitney test was used to compare the time from mastectomy to breast reconstruction, due to asymmetrical data distribution. The three main variables of this study were to identify significant risk factors, asses the aesthetic outcome, and patient satisfaction with performed different methods for breast reconstruction (LD flap with or without tissue expander and implant, pedicle and free TRAM flaps, and expander /implants only. These variables determined the current guidelines for early and late breast reconstruction after mastectomy such as patient data, age and own decision, relation ship between reconstruction and radiotherapy, and chemotherapy, and finally about breast preserving operation. The result should confirm that breast reconstruction after mastectomy is justified, especially in young women, as well as how essential is team work involved in breast cancer operation and breast reconstruction after mastectomy.


Asunto(s)
Neoplasias de la Mama/cirugía , Mamoplastia/métodos , Mastectomía , Adulto , Anciano , Femenino , Humanos , Persona de Mediana Edad , Satisfacción del Paciente , Factores de Riesgo , Colgajos Quirúrgicos
11.
Coll Antropol ; 34 Suppl 1: 315-20, 2010 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-20402341

RESUMEN

Painful shoulder in patients on chronic haemodialyis is most often associated with dialysis arthropathy or accumulation of deposits containing modified fibrils of beta2- microglobuline especially in bones and joints due to insufficient elimination during the therapy. The aim of this study is to investigate whether there is connection between painful shoulder and plasma level of beta2-microglobuline and to corroborate that with morphologic parameters found in proved amyloidosis. It has to be emphasized that even other causes may contribute the development of painful shoulder. Real time sonography and conventional plain radiographs of the 108 shoulders were performed in 54 patients receiving chronic haemodialysis as a treatment of terminal renal failure (without previous history of rheumatoid arthritis), 27 symptomatic with persistent pain and stiffness in both shoulders and lasting for more than 6 weeks and restriction of movements in various degree and 27 asymptomatic. Plasma level of beta2-microglobuline, CRP and uric acid were taken periodically as routine procedure during a one year prospective trial, as well as plasma level of calcium, phosphor and alkaline phosphatase. Plasmatic level of beta2-microglobuline is strongly connected with painful shoulder in dialyzed patients, as well as CRP as sign of acute inflammation. That is proved by morphologic parameters associated with histological proved amyloidosis in patients on long term dialysis, more then 10 years.


Asunto(s)
Diálisis Renal/efectos adversos , Dolor de Hombro/etiología , Microglobulina beta-2/sangre , Adulto , Anciano , Femenino , Humanos , Masculino , Persona de Mediana Edad
12.
Coll Antropol ; 34(4): 1391-6, 2010 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-21874726

RESUMEN

The objective of this study was to compare noncontrast computed tomography (NCCT) and computed tomography perfusion (CTP) in early diagnosis of acute ischemic stroke and to define influence of these diagnostic procedures on early outcome of thrombolytic therapy (TLTH). The study included 45 patients, 35 patients submitted to NCCT and CTP and 10 patients who underwent only NCCT, before CTP was introduced. Based on the National Institute of Health Stroke Scale (NIHSS) score we compared early outcome of patients who received TLTH after NCCT only (group 1) with the early outcome of patients who received TLTH following NCCT and CTP (group 2). Statistically significant difference was found in acute stroke diagnosing between CTP and NCCT (p = 0.002). There were no statistically significant differences in TLTH early outcome between group 1 and group 2. In conclusion, CTP should be done regulary in patients presenting with acute ischemic stroke symptoms. More research needs to be done in defining exact influence of CTP implementation on the TLTH outcome.


Asunto(s)
Isquemia Encefálica/diagnóstico por imagen , Accidente Cerebrovascular/diagnóstico por imagen , Terapia Trombolítica , Tomografía Computarizada por Rayos X , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Isquemia Encefálica/tratamiento farmacológico , Femenino , Humanos , Masculino , Persona de Mediana Edad , Accidente Cerebrovascular/tratamiento farmacológico
13.
Coll Antropol ; 34(4): 1481-5, 2010 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-21874743

RESUMEN

In all European countries healthcare professions are regulated by law. In Croatia, the legally--regulated professions are: medicine, dentistry, pharmacy, nursing, physiotherapy and midwifery, as well as radiographers, occupational therapists and medical laboratory technicians. Current education of health professionals in Croatia is traditional, inadequate and poorly harmonized with current educational trends, as well as with requirements and directives of European Commission. This Croatian model for education of health professionals at university level follows the recommendations specified in Croatian Qualification Framework: (i) learning outcomes are competency-based; (ii) mobility of students and faculty is encouraged; (iii) the means of quality assurance are anticipated. The Croatian model of university education for health professionals will make sure that all procedures, specified in the European and Croatian Qualification Framework addressing recognizability of study programs, mobility, learning outcomes, quality assurance and reliability of required qualifications are successfully completed.


Asunto(s)
Empleos en Salud/educación , Croacia , Enseñanza , Universidades
14.
Nat Genet ; 42(1): 36-44, 2010 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-20010834

RESUMEN

Pulmonary function measures are heritable traits that predict morbidity and mortality and define chronic obstructive pulmonary disease (COPD). We tested genome-wide association with forced expiratory volume in 1 s (FEV(1)) and the ratio of FEV(1) to forced vital capacity (FVC) in the SpiroMeta consortium (n = 20,288 individuals of European ancestry). We conducted a meta-analysis of top signals with data from direct genotyping (n < or = 32,184 additional individuals) and in silico summary association data from the CHARGE Consortium (n = 21,209) and the Health 2000 survey (n < or = 883). We confirmed the reported locus at 4q31 and identified associations with FEV(1) or FEV(1)/FVC and common variants at five additional loci: 2q35 in TNS1 (P = 1.11 x 10(-12)), 4q24 in GSTCD (2.18 x 10(-23)), 5q33 in HTR4 (P = 4.29 x 10(-9)), 6p21 in AGER (P = 3.07 x 10(-15)) and 15q23 in THSD4 (P = 7.24 x 10(-15)). mRNA analyses showed expression of TNS1, GSTCD, AGER, HTR4 and THSD4 in human lung tissue. These associations offer mechanistic insight into pulmonary function regulation and indicate potential targets for interventions to alleviate respiratory disease.


Asunto(s)
Perfilación de la Expresión Génica , Genoma Humano/genética , Estudio de Asociación del Genoma Completo/métodos , Pulmón/fisiología , Femenino , Volumen Espiratorio Forzado , Glutatión Transferasa/genética , Humanos , Pulmón/metabolismo , Pulmón/fisiopatología , Masculino , Metaanálisis como Asunto , Proteínas de Microfilamentos/genética , Polimorfismo de Nucleótido Simple , Enfermedad Pulmonar Obstructiva Crónica/genética , Enfermedad Pulmonar Obstructiva Crónica/fisiopatología , ARN Mensajero/genética , ARN Mensajero/metabolismo , Receptor para Productos Finales de Glicación Avanzada , Receptores Inmunológicos/genética , Receptores de Serotonina 5-HT4/genética , Pruebas de Función Respiratoria , Espirometría , Tensinas , Trombospondinas/genética , Capacidad Vital
15.
Arh Hig Rada Toksikol ; 60(2): 191-5, 2009 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-19581213

RESUMEN

Inhalation of asbestos fibres leads to asbestosis of the pleura and the lung, with possible progression to lung cancer and malignant pleural or peritoneal mesothelioma. Asbestosis remains difficult to diagnose, especially in its early stages. The most important role in its diagnosis is that of chest radiographs. The aim of this cross-sectional study was to address interobserver variations in interpreting chest radiographs in asbestos workers, which remain to be an issue, despite improvements in the International Labour Office (ILO) classification system. In our ten-year study, we investigated 318 workers occupationally exposed to asbestos, and in 210 workers with diagnosed asbestos-related changes we compared interpretations of chest radiographs according to ILO by two independent radiologists. The apparent degree of interobserver variation in classifying lung fibrosis was 26.66% for the diameter of changes and 42.2% for the profusion of the changes. In cases with diffuse pleural thickening, the interobserver variation using ILO procedures was 34.93%. This investigation raises the issue of standardisation and objectivity of interpretation of asbestosis according to the ILO classification system. This study has revealed a significant disagreement in the estimated degree of pleural and parenchymal asbestos pulmonary disease. This is why we believe high-resolution computed tomography (HRCT) should also be used as a part of international classification.


Asunto(s)
Asbestosis/diagnóstico por imagen , Pulmón/diagnóstico por imagen , Adulto , Anciano , Asbestosis/clasificación , Femenino , Humanos , Masculino , Persona de Mediana Edad , Variaciones Dependientes del Observador , Radiografía
17.
Croat Med J ; 50(1): 7-16, 2009 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-19260139

RESUMEN

AIM: To identify genetic variants underlying six anthropometric traits: body height, body weight, body mass index, brachial circumference, waist circumference, and hip circumference, using a genome-wide association study. METHODS: The study was carried out in the isolated population of the island of Korcula, Croatia, with 898 adult examinees who participated in the larger DNA-based genetic epidemiological study in 2007. Anthropometric measurements followed standard internationally accepted procedures. Examinees were genotyped using HumanHap 370CNV chip by Illumina, with a genome-wide scan containing 316730 single nucleotide polymorphisms (SNP). RESULTS: A total of 11 SNPs were associated with the investigated traits at the level of P<10(-5), with one SNP (rs7792939 in gene zinc finger protein 498, ZNF498) associated with body weight, hip circumference, and brachial circumference (P=3.59-5.73 x 10(-6)), and another one (rs157350 in gene delta-sarcoglycan, SGCD) with both brachial and hip circumference (P=3.70-6.08 x 10(-6). Variants in CRIM1, a gene regulating delivery of bone morphogenetic proteins to the cell surface, and ITGA1, involved in the regulation of mesenchymal stem cell proliferation and cartilage production, were also associated with brachial circumference (P=7.82 and 9.68 x 10(-6), respectively) and represent interesting functional candidates. Other associations involved those between genes SEZ6L2 and MAX and waist circumference, XTP6 and brachial circumference, and AMPA1/GRIA1 and height. CONCLUSION: Although the study was underpowered for the reported associations to reach formal threshold of genome-wide significance under the assumption of independent multiple testing, the consistency of association between the 2 variants and a set of anthropometric traits makes CRIM1 and ITGA1 highly interesting for further replication and functional follow-up. Increased linkage disequilibrium between the used markers in an isolated population makes the formal significance threshold overly stringent, and changed allele frequencies in isolate population may contribute to identifying variants that would not be easily identified in large outbred populations.


Asunto(s)
Estatura/genética , Peso Corporal/genética , Estudio de Asociación del Genoma Completo , Croacia , Genotipo , Humanos , Polimorfismo de Nucleótido Simple , Relación Cintura-Cadera
18.
Croat Med J ; 50(1): 23-33, 2009 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-19260141

RESUMEN

AIM: To identify genetic variants underlying biochemical traits--total cholesterol, low-density lipoprotein (LDL) cholesterol, high-density lipoprotein (HDL) cholesterol, triglycerides, uric acid, albumin, and fibrinogen, in a genome-wide association study in an isolated population where rare variants of larger effect may be more easily identified. METHODS: The study included 944 adult inhabitants of the island of Korcula, as a part of larger DNA-based genetic epidemiological study in 2007. Biochemical measurements were performed in a single laboratory with stringent internal and external quality control procedures. Examinees were genotyped using Human Hap370CNV chip by Illumina, with a genome-wide scan containing 346027 single nucleotide polymorphisms (SNP). RESULTS: A total of 31 SNPs were associated with 7 investigated traits at the level of P<1.00 x 10(-5). Nine of SNPs implicated the role of SLC2A9 in uric acid regulation (P=4.10 x 10(-6)-2.58 x 10(-12)), as previously found in other populations. All 22 remaining associations fell into the P=1.00 x 10(-5)-1.00 x 10(-6) significance range. One of them replicated the association between cholesteryl ester transfer protein (CETP) and HDL, and 7 associations were more than 100 kilobases away from the closest known gene. Nearby SNPs, rs4767631 and rs10444502, in gene kinase suppressor of ras 2 (KSR2) on chromosome 12 were associated with LDL cholesterol levels, and rs10444502 in the same gene with total cholesterol levels. Similarly, rs2839619 in gene PBX/knotted 1 homeobox 1 (PKNOX1) on chromosome 21 was associated with total and LDL cholesterol levels. The remaining 9 findings implied possible associations between phosphatidylethanolamine N-methyltransferase (PEMT) gene and total cholesterol; USP46, RAP1GDS1, and ZCCHC16 genes and triglycerides; BCAT1 and SLC14A2 genes and albumin; and NR3C2, GRIK2, and PCSK2 genes and fibrinogen. CONCLUSION: Although this study was underpowered for most of the reported associations to reach formal threshold of genome-wide significance under the assumption of independent multiple testing, replications of previous findings and consistency of association between the identified variants and more than one studied trait make such findings interesting for further functional follow-up studies. Changed allele frequencies in isolate population may contribute to identifying variants that would not be easily identified in much larger samples in outbred populations.


Asunto(s)
Genética de Población , Estudio de Asociación del Genoma Completo , Polimorfismo Genético , Adolescente , Croacia , Fibrinógeno/genética , Humanos , Lípidos/sangre , Lípidos/genética , Albúmina Sérica/genética , Ácido Úrico/sangre , Adulto Joven
19.
Surg Endosc ; 23(6): 1360-4, 2009 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-18923871

RESUMEN

BACKGROUND: Tracheobronchial foreign body (TFB) removal in adult patients using the combined technique of flexible bronchoscopy (FBSC) through the endotracheal tube as well as using the simple FBSC has not often been described. This study reports our experience with FBSC for removal of TFBs and describes diagnosis, techniques of removal, and types of TFBs. METHODS: We retrospectively examined bronchoscopic records of adult patients performed between 1995 and 2006 and collection of foreign bodies in Clinical Department for Respiratory Diseases, University Hospital Split, Croatia. RESULTS: TFBs were found in 86 (0.33%) out of 26,124 patients who were submitted to bronchoscopy. The majority of the patients (90%) had some risk factor for aspiration, among which stroke (30%) was the most frequent. Patients with different neurologic and neuromuscular diseases together accounted for 58% of all patients with TFB aspiration. Medical history was suggestive of foreign body aspiration in 38.4% of the patients, while chest X-ray was indicative in 7% of the patients. TFBs were most often found in the right bronchial tree (75.6%). The most common TFBs were animal and fish bones (39.5%). In 90.7% of the patients they were successfully removed under FBSC, whereas in 8.1% of the patients a TFB was extracted with flexible bronchoscope through endotracheal tube. Surgery was needed in only one case. CONCLUSIONS: Although foreign bodies in the tracheobronchial tree are rare in adults, the clinician must be aware of their likelihood. Foreign body aspiration should be considered especially in the etiology of recurrent lung diseases and in the presence of risk factors for aspiration, in particular with different neurologic and neuromuscular diseases. They can be successfully and safely removed in the majority of patients under local anesthesia by using FBSC. In cases when repeated procedure is needed, endotracheal tube is recommended.


Asunto(s)
Bronquios , Broncoscopía/métodos , Cuerpos Extraños/cirugía , Tráquea , Adulto , Anciano , Anciano de 80 o más Años , Broncoscopios , Diseño de Equipo , Femenino , Estudios de Seguimiento , Cuerpos Extraños/diagnóstico , Humanos , Masculino , Persona de Mediana Edad , Estudios Retrospectivos , Resultado del Tratamiento , Adulto Joven
20.
Acta Med Croatica ; 62(5): 501-4, 2008 Dec.
Artículo en Croata | MEDLINE | ID: mdl-19382633

RESUMEN

Acute brain diseases require timely and correct diagnosis. The basic guideline in treating these patients is clinical-neurological assessment. We tested the sensitivity and specificity of clinical assessment of acute brain disease according to definitive diagnosis determined by neuroradiology and computerized tomography (CT). We found a statistically significant correlation between the disease assessment and brain CT in patients with ischemic stroke. In patients with hemorrhagic stroke and brain tumors, the clinical-neurological assessment was found to be of statistically significantly lower sensitivity and specificity. Clinical assessment may produce false-positive and false-negative findings concerning hemorrhagic stroke and brain tumors. Study results indicated brain CT to be an unavoidable diagnostic method, along with clinical assessment of acute brain disorders.


Asunto(s)
Encefalopatías/diagnóstico por imagen , Enfermedad Aguda , Anciano , Encéfalo/diagnóstico por imagen , Encefalopatías/diagnóstico , Femenino , Humanos , Masculino , Persona de Mediana Edad , Sensibilidad y Especificidad , Tomografía Computarizada por Rayos X
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