bluuebunny/crossref_metadata_2025_split huggingface dataset:
Spectrum and Frequency of the GJB2 Gene Mutations Among Latvian Patients with Prelingual Nonsyndromic Hearing Loss
Authors: Šterna Olga , Proņina Natālija , Grīnfelde Ieva , Kušķe Sandra , Krūmiņa Astrīda , Lugovska Rita , Pētersons Aigars 
Published: November 2009

Spectrum and Frequency of the GJB2 Gene Mutations Among Latvian Patients with Prelingual Nonsyndromic Hearing Loss
Mutations in the GJB2 gene (connexin 26) are the most common cause of congenital nonsyndromic severe-to-profound hearing loss. Sixty-five hearing impaired probands from Latvia were tested for mutations in the GJB2 gene to determine the percentage of hearing loss attributed to connexin 26 and the types of mutations in this population. A total of 62% of patients tested had GJB2 mutations. Four different mutations in the GJB2 gene were identified in Latvian patients with nonsyndromic sensorineural hearing loss: 35delG, 311-324del14, 235delC and M34T. The most prevalent mutation is 35delG (47% of all probands were homozygous and 8% compound heterozygous). Our findings support the conclusion that the 35delG mutation is the most prevalent GJB2 mutation and that it is the common cause of hereditary nonsyndromic hearing loss in populations of European descent.
Neonatal Cystic Fibrosis Screening in Latvia: A Pilot Project
Authors: Lāce Baiba , Grīnblate Santa , Korņejeva Liene , Švābe Vija , Grauduma Ineta , Vēvere Pārsla , Lugovska Rita , Krams Alvils , Martinsons Agris 
Published: November 2009

Neonatal Cystic Fibrosis Screening in Latvia: A Pilot ProjectCystic fibrosis (CF) is one of the most common severe autosomal recessive diseases in the Northern European population affecting 1:2000-4000 individuals worldwide and 1:3300 in Latvia. Every year in Latvia since 1994, the approximate birth rate is 20,000 newborns per year, so theoretically there should be 6-8 new cases of CF per year. In Latvia, since 1998, there have been 49 patients with clinically confirmed diagnosis of CF. Recognition of a person with cystic fibrosis has always been a challenging task for clinicians, because of the constellation of symptoms, which can easily be misleading and explained by other aetiology. Therefore, in several countries, neonatal screening programmes using immunoreactive trypsinogen (IRT) have been introduced. The aim of this study was to evaluate the possible introduction of a neonatal IRT and DNA screening programme for diagnostic confirmation of cystic fibrosis in Latvian infants. IRT was measured in dried blood spots from 7,040 newborns, and DNA analysis for mutations dF508 and 394delTT performed for all individuals with increased IRT. Two persons suspected to have CF were identified, which is in accordance with population studies of CF frequency in Latvia. The estimated frequency of CF in Latvia of 1:3,520 corresponds to the average frequency in Europe. A mutation panel examining 230 mutations by APEX was applied to all samples with an IRT level above 100 ng/ml and two patients with the diagnosis of CF were identified.
Ontological Re-engineering of Medical Databases
Authors: Bārzdiņš Guntis , Rikačovs Sergejs , Veilande Marta , Zviedris Mārtiņš 
Published: November 2009

Ontological Re-engineering of Medical Databases
This paper describes data export from multiple medical databases (relational databases) into a single shared Medical Data Warehouse (RDF database structured according to an integrated OWL ontology). The exported data is conveniently accessible via SPARQL or via graphical query language ViziQuer based on UML profile for OWL. The approach is illustrated on one of Latvian Medical databases - Injury Register.
Comparative Analysis of Insulin-like Growth Factor I and Tumour-associated Antigens in Cancer Patients at the Time of Diagnosis
Authors: Mačuks Ronalds , Eņgele Ludmila , Nuķe Inta , Sudraba Agnese , Doniņa Simona 
Published: November 2009

Comparative Analysis of Insulin-like Growth Factor I and Tumour-associated Antigens in Cancer Patients at the Time of Diagnosis
Insulin-like growth factor-1 (IGF-1) is a polypeptide hormone with structure similar to insulin. Many experimental data support the suggestion that risk of cancer is higher among persons with raised concentration of IGF-1 and some studies support the role of IGF-1 as a biomarker of increased risk of development of colorectal (CRC) and breast cancer (BC). We have determined IGF-1, CA19-9, CEA, CA72-4 for colorectal, CA15-3 and CEA for breast cancer to clarify utility of IGF-1 as a biomarker of cancer presence at the time of diagnosis. In total, 42 men and 52 women with CRC and 139 women with BC were examined. The cut-off level for IGF-1 concentration in serum was established from results of apparently healthy 27 men and 130 women. An IGF-1 and tumour-associated antigens were detected by chemiluminescence's method using analyser Immulite 2000 (Siemens). Elevated level of IGF-1 was detected in 42.8% of men and 30.7% of women with colorectal cancer. The highest detection rates for CRC using a two biomarker combination were for men as well as for women (57.1% and 57.6%). IGF-1 showed higher detection rates between women with breast cancer in postmenopause vs. women at premenopausal age (33.6% vs. 27.7%). IGF-1 can be used as an additional biomarker for selected colorectal and breast cancer patient groups.
Novel Laboratory Tests in Assessment of Liver Function in Acute and Chronic Liver Diseases
Authors: Vīksna Ludmila , Keišs Jāzeps , Sočņevs Artūrs , Rozentāle Baiba , Pilmane Māra , Sevastjanova Natālija , Buiķe Inita , Jēruma Agita , Eglīte Elena , Ābeltiņa Kristīne , Sondore Valentīna 
Published: November 2009

Novel Laboratory Tests in Assessment of Liver Function in Acute and Chronic Liver Diseases
Liver biopsy in clinical practice has been widely used for the diagnosis and management of patients with liver diseases, particularly, with chronic liver diseases. However, liver biopsy is an invasive method with potential complications, sampling and interpretation errors. Therefore, noninvasive tests are being developed and introduced to replace liver biopsy. The aim of the present study was to identify the new noninvasive methods to be used for the assessment of liver structure and function, by use of the appropriate serum surrogate markers and to evaluate the clinical diagnostic and prognostic accuracy of these methods, including immunogenetic methods, in cases of acute and chronic liver diseases. The obtained data showed that serum markers of apoptosis (cytokeratin-18 neoepitope and citochrome c) and fibrosis (hyaluronic acid) should be included in viral and toxic liver damage management algorithms. The punctual identification of immunogenetic factors (HLA class II antigens) may prove to be useful in predicting disease evolution, and in guiding the appropriate therapy for patients with poor prognosis.
Prenatal and Postnatal Diagnostics Problems of the Most Common Surgical Congenital Malformations of Newborns in Latvia
Authors: Ābola Zane , Pētersons Aigars , Pugačevska Daila , Zviedre Astra , Lackaja Jana 
Published: November 2009

Prenatal and Postnatal Diagnostics Problems of the Most Common Surgical Congenital Malformations of Newborns in Latvia
The most common surgical congenital malformations of newborns in Latvia are esophageal atresia (EA) with or without tracheoesophageal fistula (TEF), duodenal atresia (DA) and abdominal wall defects — gastroschisis (G) and omphalocele (O). Survival and quality of life of these patients depend on precise pre- and postnatal diagnosis, timely and qualified treatment, and presence of associated anomalies and prematurity. The aim of our study was to define prenatal and postnatal diagnostic problems of the most common surgical congenital malformations of new-borns in Latvia. Data concerning pre- and postnatal diagnostics from case-records of patients treated in Children's Clinical University Hospital from 1998 till 2008 with esophageal atresia (58 patients), duodenal atresia (20 patients) and congenital abdominal wall defects — gastroschisis (17 patients) and omphalocele (28 patients) were analysed. Results showed that in case of EA prenatal USG was performed in 62% of expectant mothers and in neither case suspicion about. EA was expressed. In all patients after birth diagnostic placement of nasogastric tube was performed. In approximately one-third catheter of bad opaqueness was used. Preoperative bronchoscopy and esophagoscopy in order to exclude upper tracheoesophageal fistula were performed in two patients from the analysed group. In 40% of cases DA was diagnosed in prenatal ultrasonography. G was diagnosed prenatally in 29.4%, O — only in 3.7%.
Long-term Clinical Results for Randomised Comparison of Paclitaxel-eluting versus Bare-metal Stents in Unprotected Left Main Coronary Artery Disease
Authors: Narbute Inga , Jēgere Sanda , Kumsārs Indulis , Mintāle Iveta , Zakke Iļja , Juhnēviča Dace , Trušinskis Kārlis , Sondore Dace , Lismanis Aigars , Latkovskis Gustavs , Grāve Aļona , Dombrovskis Andis , Ērglis Andrejs 
Published: November 2009

Long-term Clinical Results for Randomised Comparison of Paclitaxel-eluting versus Bare-metal Stents in Unprotected Left Main Coronary Artery Disease
To optimise percutaneous coronary intervention (PCI) strategy for unprotected left main (ULMCA) disease we performed a randomised study: IVUS-guided bare metal stent (BMS) versus paclitaxel-eluting stent (PES) implantation after lesion pre-treatment with cutting balloon (CB) for unprotected LM lesions. The purpose of this randomized study was to evaluate six-month and three-year clinical results. Several recent publications have demonstrated good short- and midterm outcomes in patients with left main artery disease after stent implantation. However, data on long-term comparison of BMS and PES for LM lesions are limited. Patients with left main coronary artery disease enrolled at Latvian Centre of Cardiology were randomly assigned to either BMS (n = 50) or PES implantation (n = 53). All interventions were IVUS-guided and CB pre-treatment before stenting was performed in all patients. All patients were scheduled for six-month and three-year follow-up. The primary endpoint was major adverse cardiac events (MACE) defined as death, Q wave myocardial infarction or target lesion revascularisation (TLR). Baseline clinical and procedural characteristics were comparable in both groups. At six months, the MACE-free survival rate was 70% in BMS and 87% in PES patients (P < 0.05). At three years, MACE occurred in 18 patients (36.0%) in the BMS and seven patients (13.2%) in the PES group (P < 0.05). The current study demonstrates the benefit of IVUS guided paclitaxel-eluting stent implantation after cutting balloon pre-treatment in left main coronary artery disease over bare metal stent implantation at six months and three years.
Comparison of Intravascular Imaging and Quantitative Coronary Angiography to Evaluate Neointimal Proliferation after Complex Lesion Stenting
Authors: Jēgere Sanda , Narbute Inga , Kumsārs Indulis , Mintāle Iveta , Zakke Iļja , Juhnēviča Dace , Trušinskis Kārlis , Sondore Dace , Lismanis Aigars , Latkovskis Gustavs , Grāve Aļona , Dombrovskis Andis , Ērglis Andrejs 
Published: November 2009

Comparison of Intravascular Imaging and Quantitative Coronary Angiography to Evaluate Neointimal Proliferation after Complex Lesion Stenting
Unlike quantitative coronary angiography (QCA), intravascular imaging methods allow direct visualisation of the arterial wall. Our goal was to determine several intravascular ultrasound (IVUS) and optical coherence tomography (OCT) parameters of neointimal proliferation and stent endothelisation after complex lesion intervention compared to QCA. We examined 261 patients who had underwent percutaneous intervention with bare metal (BMS) or drug eluting stent (DES) implantation for complex coronary lesions and had IVUS or OCT images at six-month follow-up. Percent diameter stenosis (QCA) was 25.2 ± 16.0 in BMS vs 21.7 ± 17.4 in DES (P < 0.05). Percent neointimal volume obstruction (IVUS) was 19.5 ± 14.4 in BMS vs. 5.8 ± 7.7 in DES (P < 0.001). A moderate correlation was observed between QCA and IVUS with an r value of 0.384 overall, 0.472 for BMS and 0.416 for DES (P < 0.001 for all). In patients with chronic total occlusions (n = 161) QCA was similar in BMS and DES patients (P > 0.05) while IVUS showed less neointima in DES (P < 0.05). Total number of uncovered stent struts per OCT image was 0.4 ± 0.8 while per IVUS image 1.2 ± 1.5 (P < 0.001). In conclusion, angiographic indexes correlate with volumetric intravascular parameters. Although IVUS was more sensitive than QCA to assess neointimal proliferation, the assessment of stent endothelisation was more precise using OCT.
Epidemiology and Surgical Treatment of Gastric Cancer in Latvia
Authors: Sīviņš Armands , Misiņš Jānis , Pedrazzani Corrado , Ancāns Guntis , Stengrēvics Aivars , Krūminš Viesturs , Boka Viesturs , Leja Mārcis 
Published: November 2009

Epidemiology and Surgical Treatment of Gastric Cancer in Latvia
The aim of the study was to evaluate short- and long-term results of surgical treatment of gastric cancer performed in Latvia Oncology Centre. Retrospectively data was collected from 461 patients who underwent gastrectomy with curative intent in the Latvia Oncology Centre from January 2001 to December 2005. The data was subjected to statistical analysis. On average, 92.2 (range 81-102) R0-R1 gastrectomies were performed each year. Post-operative complications occurred in 75 patients (16.3%); in-hospital mortality was 3.3%. The overall 5-year survival was 50.8%. In 444 cases (96.3%) there was histopathologic confirmation of R0-resection with a 5-year survival of 52.5% (P < 0.001). Considering pT category, 5-year survival (median) was 88.6% (not reached) for pT1 patients, 65% (not reached) for pT2, 42.3% (35.7 months) for pT3 and 27% (14.2 months) for pT4 (P < 0.001). Considering the pN category, 5-year survival (median) was 67% (not reached) for pN0 patients, 30% (22.1 months) for pN1 and 29% (14.2 months) for pN2-3 (P < 0.001). Short- as well as long-term results are comparable with Western experiences, but not for pN+ patients where no difference between pN1 and pN2 cases was observed.
Characteristics of Cardiovascular Risk Factors and Their Correlation with the Sex and Age of Patients in the Latvian Population
Authors: Stuķēna Inga , Kalvelis Andrejs , Bahs Guntis , Teibe Uldis , Tretjakovs Pēteris , Lejnieks Aivars 
Published: November 2009

Characteristics of Cardiovascular Risk Factors and Their Correlation with the Sex and Age of Patients in the Latvian Population
Various cardiovascular risk factors (RFs) were determined in 773 out-patients (mean age 55.8 ± 14.5 years). Male individuals had a larger waist circumference (WC) than did female patients (99.1 ± 13.6 cm vs 93.3 ± 15.2 cm), higher diastolic blood pressure (DBP) (83.6 ± 9.6 mmHg vs 81.8 ± 9.6 mmHg), and higher levels of blood glucose (5.73 ± 1.4 mmol/L vs 5.49 ± 1.3 mmol/L) and triglycerides (TG) (1.89 ± 1.3 mmol/L vs 1.60 ± 1.0 mmol/L), but lower levels of total cholesterol (TC) (5.54 ± 1.2 mmol/L vs 5.79 ± 1.2 mmol/L) and high-density lipoprotein cholesterol (HDL-C) (1.21 ± 0.4 mmol/L vs 1.44 ± 0.4 mmol/L). Compared with the younger age group (i.e., males, < 7 years; females, < 65 years), patients in the older age group had a larger WC (98.4 ± 14.2 cm vs 92.8 ± 15.1 cm), higher systolic blood pressure (SBP) (144.2 ± 19.2 mmHg vs 131.6 ± 18.5 mmHg), higher DBP (84.5 ± 8.8 mmHg vs 80.9 ± 9.8 mmHg), higher blood glucose level (5.74 ± 1.3 mmol/L vs 5.46 ± 1.3 mmol/L), and higher low-density lipoprotein cholesterol level (LDL-C) (3.68 ± 1.0 mmol/L vs 3.52 ± 1.0 mmol/L), but lower HDL-C level (1.3 ± 0.4 mmol/L vs 1.41 ± 0.4 mmol/L). Age was significantly correlated with all RFs, with the exception of the level of C-reactive protein. In conclusion, analysis of cardiovascular RFs in different age subgroups of both sexes clearly showed individual peculiarities of risk profile. This conclusion challenges the usual way of risk calculation using "universal" markers like adiposity or dyslipidemia in all population. The new approach requires individual attention depending on sex and age also in management of risk.
Association between Inflammatory Markers and Clinical and Metabolic Risk Factors for Cardiovascular Diseases
Authors: Stuķēna Inga , Kalvelis Andrejs , Bahs Guntis , Teibe Uldis , Tretjakovs Pēteris , Lejnieks Aivars 
Published: November 2009

Association between Inflammatory Markers and Clinical and Metabolic Risk Factors for Cardiovascular Diseases
The inflammatory reaction plays an important role in the development of atherosclerosis. The clinical significance of the main inflammatory markers — C-reactive protein (CRP), interleukin 6 (IL6), tumour necrosis factor alpha (TNF-α), plasminogen activator inhibitor 1 (PAI1), etc. — has not been fully established. CRP, IL6, TNF-α, and PAI1 were assessed in 100 patients in terms of certain clinical indicators (sex, obesity indicators, blood pressure, and heart rate), total cholesterol (TC), low-density lipoprotein-cholesterol (LDL-C), high-density lipoprotein-cholesterol (HDL-C), triglycerides (TG), glucose, insulin, homeostasis model assessment of insulin resistance (HOMA-IR), adiponectin, and leptin levels. CRP and PAI1 levels were elevated in subjects with increased body mass index (BMI) and waist circumference. CRP correlated positively with indicators of carbohydrate metabolism and negatively with TC, HDL-C, and adiponectin. PAI1 correlated positively with insulin levels, HOMA-IR, leptin, and TG, but negatively with HDL-C. IL6 correlated negatively with TC, but TNF-α correlated negatively with HDL-C. Both IL6 and TNF-α correlated positively with leptin levels. TNF-α correlated with TG levels and the indicators of carbohydrate metabolism only in women. CRP and PAI1 are the most sensitive inflammatory markers; their levels were higher in adipose subjects.
Epidemiological, Clinical, Molecular Features and Early Detection Strategy of Most Frequent Hereditary Cancers in Latvia
Authors: Gardovskis Jānis , Štrumfa Ilze , Miklaševičs Edvīns , Irmejs Arvīds , Trofimovičs Genādijs , Vjaters Egils , Borošenko Viktors , Melbārde-Gorkuša Inga , Gardovskis Andris , Vanags Andrejs , Ābele Andris , Subatniece Signe , Bitiņa Marianna , Švampāne Liāna , Žestkova Jekaterina , Bērziņa Dace , Aksenoka Karina , Boka Viesturs , Puķītis Aldis , Stāka Aiga , Tihomirova Laima 
Published: November 2009

Epidemiological, Clinical, Molecular Features and Early Detection Strategy of Most Frequent Hereditary Cancers in Latvia
The aim of the study was to determine epidemiological, clinical and molecular features of hereditary breast-ovarian, colorectal, endometrial, prostate and pancreatic cancer in Latvia. The study was performed from 2006 to 2009. Family cancer histories and DNA samples from 5,040 cancer cases were collected, and more than 6,000 molecular tests were performed including multiplex PCR, direct sequencing, denaturing high performance liquid chromatography and others. For the first time, a BRCA2 gene mutation positive hereditary breast cancer family was identified. The necessity of 2 BRCA1 gene founder mutations testing, irrespective of family cancer history for breast and ovarian cancer patients, was confirmed on a large number of positive cases. Regarding hereditary ovarian cancer, every ninth case affected with this malignancy was associated with the BRCA1 gene mutation. For the first time, positive familial adenomatous polyposis cases positive for APC gene mutation were reported and data on the clinical frequency of hereditary endometrial and prostate cancer were provided. In pancreatic cancer patients there was a 3.5% frequency of BRCA1 gene founder mutations.
Exhaled Air Analysis in Patients with Different Lung Diseases Using Artificial Odour Sensors
Authors: Taivans Immanuels , Jurka Normunds , Balode Līga , Bukovskis Māris , Kopeika Uldis , Ogorodniks Vadims , Kleperis Jānis , Strazda Gunta , Šiliņš Viesturs , Martinsons Agris 
Published: November 2009

Exhaled Air Analysis in Patients with Different Lung Diseases Using Artificial Odour Sensors
Sniffing breath to diagnose a disease has been practiced by doctors since ancient times. Nowadays, electronic noses are successfully used in the food, textile and perfume industry as well as for air pollution control. The aim of this study was to test whether exhaled breath analysed by an artificial nose could identify and discriminate between different lung diseases. A total of 76 individuals were tested: 25 bronchial asthma, 19 lung cancer, 10 pneumonia, 6 chronic obstructive pulmonary disease (COPD) patients and 16 healthy volunteers. Exhaled air was collected in plastic bags and immediately analysed using an electronic nose instrument (9185, Nordic Sensors AB) containing 14 different odour sensors. Multifactor logistic regression analysis was used to determine correlation between the amplitudes of sensor responses and the clinical diagnoses of patients and to calculate sensitivity and specificity of the method for each diagnosis. For diagnostics of asthma the sensitivity was found to be 84% and specificity — 86%. For lung cancer, the sensitivity was 74% and specificity, 95%; for pneumonia 90% and 98%, but for COPD, 33% and 97%, respectively. We conclude that an artificial nose is able to discriminate among different lung diseases with sufficiently good accuracy. This method may be further developed to implement it in clinical medicine for express diagnostics of acute and chronic lung diseases.
Association Study of Genetic Variants in the 14q11 - 14q13 Proteasomal Genes Cluster with Juvenile Idiopathic Arthritis (JIA) in Latvian Population
Authors: Trapiņa Ilva , Rumba-Rozenfelde Ingrīda , Sjakste Nikolajs , Sokolovska Jeļizaveta , Sugoka Olga , Sjakste Tatjana 
Published: November 2009

Association Study of Genetic Variants in the 14q11 - 14q13 Proteasomal Genes Cluster with Juvenile Idiopathic Arthritis (JIA) in Latvian Population
The possible role of proteasomes in the development of autoimmune diseases was hypothesised after discovery of the involvement of proteasomal LMP2 and LMP7 subunits in antigene processing. The objective of this study was to determine the association between allelic variants of the genes encoding proteasomal proteins PSME1, PSME2 and PSMA6 and juvenile idiopathic arthritis (JIA) in the Latvian population. One Indel G-4543 CA-4544 →GA and four SNPs related to the PSMA6 gene (A-2486 →G and C-1910 →T, upstream promoter, C-110 →A of promoter, and C-8 →G of 5'UTR), of two cSNP in PSME1 (G1457 →A:Val104, exon 6 and C2536 →A: Lys244 →Thr, exon 11) and in PSME2 (C1153 →G:Arg61 →Gly, exon 4 and A1440 →C:His89 →Pro, exon 6) were geno-typed by means of primer-specific PCR, CAPS assay and/or sequencing in case/control study composed from the 156 JIA patients and 214 healthy individuals. Allele frequency and genotype distribution was similar in cases and controls for Indel, and SNPs A-2486 →G, C-1910 →T and C-8 →G of PSMA6, as well as for all studied cSNPs in PSME1 and PSME2 genes. Differences in A-110 allele and CG genotype frequencies were close to the statistically significant P level in JIA patients and healthy individuals, however, when an additive model was applied, the difference in the C-110 →A locus turned out to be statistically significant. The results support the hypothesis of the possible association of PSMA6 gene allelic variants with JIA in the Latvian population.