Rivista e Edizione

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Volume 27 (2019): Edizione 4 (October 2019)

Volume 27 (2019): Edizione 3 (July 2019)

Volume 27 (2019): Edizione 2 (April 2019)

Volume 27 (2019): Edizione 1 (January 2019)

Volume 26 (2018): Edizione 4 (October 2018)

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Volume 26 (2018): Edizione 2 (April 2018)

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Volume 25 (2017): Edizione 2 (April 2017)

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Volume 24 (2016): Edizione 4 (December 2016)

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Volume 23 (2015): Edizione 4 (December 2015)

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Volume 22 (2014): Edizione 2 (June 2014)

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Volume 21 (2013): Edizione 3 (September 2013)

Volume 21 (2013): Edizione 2 (June 2013)

Volume 21 (2013): Edizione 1 (March 2013)

Dettagli della rivista
Formato
Rivista
eISSN
2284-5623
Pubblicato per la prima volta
08 Aug 2013
Periodo di pubblicazione
4 volte all'anno
Lingue
Inglese

Cerca

Volume 27 (2019): Edizione 4 (October 2019)

Dettagli della rivista
Formato
Rivista
eISSN
2284-5623
Pubblicato per la prima volta
08 Aug 2013
Periodo di pubblicazione
4 volte all'anno
Lingue
Inglese

Cerca

10 Articoli
Accesso libero

Genetic testing in pediatrics - a narrative essay of challenges and possibilities in Romania

Pubblicato online: 04 Nov 2019
Pagine: 355 - 359

Astratto

Accesso libero

The influence of hemodialysis on FibroTest parameters

Pubblicato online: 04 Nov 2019
Pagine: 361 - 373

Astratto

Abstract

Chronic hepatitis C viral infection is an important cause of morbidity and mortality in patients with end-stage renal disease treated with hemodialysis. Liver fibrosis represents a main determinant of liver disease prognosis and clinical management, and its assessment by liver biopsy can decide treatment allocation. Although liver biopsy is the gold standard for staging liver fibrosis, it is an invasive procedure associated with complications that are more prevalent in patients with end-stage renal disease. FibroTest represents a surrogate marker of fibrosis which evaluates the levels of apolipoprotein A1, total bilirubin, haptoglobin, gamma-glutamyltransferase and α2-macroglobulin, generating a score that indicates the level of fibrosis. Discrepancies were observed in clinical practice between FibroTest score and histopathological findings. The aim of this study was to evaluate how hemodialysis influences the level of each FibroTest parameter and the final score. The systematic literature review conducted by us suggests that hemodialysis induces a reduction in apolipoprotein A1, haptoglobin and bilirubin levels, with an increase in gamma-glutamyltransferase and alpha-2-macroglobulin levels. In conclusion, hemodialysis modifies the levels of FibroTest parameters, suggesting that it may also have an impact on the accuracy of liver fibrosis assessment in hemodialysis patients.

Parole chiave

  • hemodialysis
  • apolipoprotein A1
  • bilirubin
  • alpha-2-macroglobulin
  • haptoglobin
  • gamma-glutamyltransferase
Accesso libero

Hemolysis has no influence on routine coagulation tests in subjects without anticoagulant therapy - a referral Romanian emergency hospital laboratory experience

Pubblicato online: 04 Nov 2019
Pagine: 375 - 382

Astratto

Abstract

The aim of this study was to determine the rate of hemolyzed specimens sent to our laboratory for coagulation testing, assess the interference of hemolysis on coagulation for patients without anticoagulant therapy and to determine the reference intervals for PT, INR and aPTT for our laboratory in order to test our own limitations.

Methods: To determine the hemolysis rate, 1,689 specimens were evaluated on a visual scale and with the hemolysis icterus lipemia (HYL) test on Architect c4000 instrument. 125 blood samples collected from subjects without anticoagulant therapy were hemolyzed in vitro and the PT, INR and aPTT results were compared before and after hemolysis.To determine reference intervals (RI) for PT, INR and aPTT in our population, 125 apparently healthy human subjects (according to CLSI C28-A2) were enrolled and tests were performed on Sysmex CS 2000i, using Siemens reagents.

Results: Out of 1,689 samples, 9.46% were assessed as hemolyzed by the visual scale, while HYL test showed a 6.63% hemolysis rate. We found a shortening of 0.1s for PT, a diminution with 0.01 units for INR and a prolongation with 0.9s for aPTT from in vitro hemolyzed compared to non-lyzed samples. As to the reference intervals, we obtained in our laboratory versus reagents producer: for PT 9.8-13.9 s vs 9.8-12.1 s, and for aPTT 19.1-31.5s vs 23-31.9 s respectively; 28.38% more PT results and 13.44% more aPTT results were within range when we used local laboratory RI, compared to the manufacturer’s RI.

Conclusions: The rate of hemolyzed coagulation samples in our laboratory is higher than the rate found in the literature. Nevertheless, for patients without anticoagulant therapy hemolyzed samples should be processed. Using our own reference interval leads to a significant reduced number of abnormal results.

Parole chiave

  • hemolysis
  • coagulation
  • reference intervals
Accesso libero

The evaluation of the reverse algorithm for syphilis screening in blood donors

Pubblicato online: 04 Nov 2019
Pagine: 383 - 388

Astratto

Abstract

Background: In Turkey, prior to transfusion and apheresis, it is mandatory to screen blood for HBsAg, anti-HCV, anti-HIV 1/2, and syphilis. In recent years, efforts have been made to create effective diagnostic algorithms for screening, and as a screening strategy, many countries have switched from traditional algorithms to reverse algorithms. This study was carried out to evaluate the results we obtained after changing to chemiluminescence immunoassay (CLIA) based reverse algorithm, which is more sensitive and specific than the traditional algorithm and VDRL test we currently use for syphilis screening.

Methods: The screening algorithm was initiated with the treponemal CLIA method. The reactive samples were tested using a nontreponemal test VDRL and a second treponemal test TPHA. In the descriptive analyses, the averages, numbers, and percentage distributions were calculated. The group comparisons were undertaken with the chi-square test, accepting p < 0.05 as statistically significant.

Results: Of the 5,053 samples that were tested with CLIA syphilis TPA assay 5,043 were negative (99.802%) and 10 were positive reactive (0.198%), and the difference between the two was statistically significant (p < 0.001). Ten samples that were recurrently reactive were analyzed by VDRL and TPHA tests simultaneously. VDRL was negative in all 10 samples, whereas TPHA was negative in one sample, but positive in nine samples at a titer of ≥1/160.

Conclusion: Based on the results of this study, we decided to use the CLIA method and reverse algorithm instead of using the traditional algorithm and VDRL as the initial screening method.

Parole chiave

  • blood donors
  • syphilis screening tests
  • confirmation
  • reverse algorithm
Accesso libero

Acute effects of recreational soccer on inflammatory response and cardiac and skeletal muscle damage indicators

Pubblicato online: 04 Nov 2019
Pagine: 389 - 399

Astratto

Abstract

Introduction: Previous studies have indicated that acute bouts of strenuous, long duration exercise induce significant increases in the inflammatory profile and cardiovascular risk markers. Although recreational soccer (RS) is a widespread activity, there are no data on this topic. Thus, the aim of this study was to examine RS-induced changes in inflammatory, cardiac, and skeletal muscle damage indicators in young and middle-aged males.

Methods: Twelve young and 11 middle-aged males participated in the study. The participants played 6v6 1 h RS, where heart rate (HR) responses and external loads (distance covered, number of accelerations/decelerations) were determined. Blood samples were taken immediately prior to and following the matches, and 2 h, 4 h, 24 h, 48 h, and 72 h later.

Results: Absolute HR responses and the number of accelerations and decelerations were higher in young participants than the middle-aged participants (p < 0.05). RS increased high sensitivity cardiac troponin I (hs-cTnI) in almost all participants. A total of 83.3% of the young participants exceeded the upper reference limit (URL), whereas none of the middle-aged participants exceeded the URL. Hs-cTnI levels returned to baseline after 24 and 48 h in the middle-aged and young participants, respectively. High sensitivity C-reactive protein (hs-CRP) and creatine kinase (CK) increased in the middle-aged participants (p < 0.05), and in the young participants, though not significantly (p > 0.05). RS also led to significant increases in lactate dehydrogenase (LDH) in both groups (p < 0.05). Hs-CRP, CK, and LDH values returned to baseline levels within 48 to 72 h, except for the LDH values of the young participants.

Conclusion: RS induced short-term increases in cardiac and skeletal muscle damage markers and the inflammatory profile in young and middle-aged RS participants.

Parole chiave

  • cardiovascular system
  • cardiac troponin
  • health and exercise
  • muscle damage
  • inflammation
Accesso libero

The angiotensinogen gene polymorphism, lifestyle factors, associated diseases and gastric areas of inflammatory and preneoplastic lesions in a Romanian sample of patients

Pubblicato online: 04 Nov 2019
Pagine: 401 - 411

Astratto

Abstract

The aim of our study was to evaluate the association between variant genotype of angiotensinogen (AGT) c.-58A>C, lifestyle factors and clinical factors and corporeal extension of gastric inflammatory and preneoplastic lesions.

Methods: Our study included 209 subjects who underwent a complete set of gastric biopsies, followed by genotyping. They were included to study inflammatory gastric changes and preneoplastic lesions and were grouped according to the localization of changes.

Results: No significant statistical associations were noticed between AGT c.-58A>C genotypes and the corporeal extension of the inflammation or preneoplastic injury groups. Extending preneoplastic lesions to the gastric body was associated with smoking habits (p=0.01) and additionally, there was a significant association between nicotine consumption and the body extension of preneoplastic lesions (p=0.01). The use of acenocoumarol was frequently associated with the progression of histological lesions to preneoplastic lesions (p=0.01). Compared with the wild-type AA genotype, the combined genotypes AA+CC of AGT c.-58A>C were significantly associated with the progression of inflammatory gastric lesions’ according to the regular ingested doses of nonsteroidal anti-inflammatory drugs (NSAIDs).

Conclusion: The AGT c.-58A>C polymorphism is not associated with extension of the gastric lesions. In accordance with nicotine and alcohol consumption, the acenocoumarol co-treatment and multiple cardiac pathologies are associated with the corporeal progression of these injuries. The age below 70 years and NSAIDs treatment for the patients with heterozygous AC genotype and variant homozygous CC genotype for the mentioned SNP have been associated with the corporeal extension of gastric inflammation.

Parole chiave

  • AGT gene polymorphism
  • lifestyle factors
  • extension of gastric lesions
Accesso libero

Is there a correlation between GAD2 gene-243 A>G polymorphism and obesity?

Pubblicato online: 04 Nov 2019
Pagine: 413 - 420

Astratto

Abstract

Introduction: GAD2 gene encodes the glutamate decarboxylase enzyme which catalyses the transformation of glutamate into γ-aminobutyric acid, GABA. It is suggested that some polymorphic alleles of GAD2 gene, such as -243A>G, have an increased transcriptional effect compared with the wild type, which results in an increase of GABA in the hypothalamus with the subsequent increase of the neuropeptide Y, thus exacerbating the hunger centre and the appetite. The aim of this study was to observe an association between the -243A>G polymorphism with obesity, comparatively studying a group of obese patients and a group of patients with normal weight.

Patients and method: 127 patients were clinically evaluated in the Genetic and Endocrine Department of Children’s Emergency Clinical Hospital, Cluj. The patients were included in two study groups, case group, with obesity (BMI higher than 97 kg/m2) and control group, with normal weight (BMI less than 97 kg/m2). Genotyping for GAD2-243A>G polymorphism was performed using PCR-RFLP technique, the two groups being compared regarding the genotypes and phenotypes.

Results and conclusions: In the obesity group, there is a statistically significant difference in BMI (kg/m2) between the subgroups with different genotypes (p=0.01), the AA genotype being less severely affected than AG and GG genotypes. In the normal weight group there is no association between BMI and different genotypes (AA, AG or GG). Also, there is a greater distribution of GG genotypes and G allele in the obesity group compared with the control group, with an odds ratio which suggest that -243A>G polymorphism is a risk factor in obesity development (GG genotype OR=3.76, G allele OR=1.73, p=0.04).

The finding of our study is important in explaining the multifactorial model of obesity, our research demonstrating that the GAD2-243 A> G variant could be a risk factor that added to other obesogenic factors would potentiate their effect.

Parole chiave

  • obesity
  • GAD2 gene
  • polymorphism
Accesso libero

A chronic hepatitis B patient infected with HBsAg diagnostic-escape strain in the presence of anti-HBs positivity

Pubblicato online: 04 Nov 2019
Pagine: 421 - 426

Astratto

Abstract

Hepatitis B virus (HBV) is an important pathogen responsible for serious diseases like chronic hepatitis, cirrhosis and liver cancer. Turkey is located in the intermediate endemic region based on the average HBV surface antigen positivity. The high replication capacity of HBV and the lack of proofreading activity of the reverse transcriptase (RT) enzyme makes the virus prone to mutations. In this study, S gene mutation which is detected in a chronic HBV case without any follow-up and treatment is presented. Although patient was HBsAg negative and anti-HBs positive in the examinations, the mutation analysis was performed upon the high level of HBV DNA load and sG145R (vaccine escape) mutation in S gene region and rtI169F, rtV173L, rtA181G and rtT184R mutations in pol gene region were detected. S gene region mutations may cause false negatives in diagnostic assays that detect HBsAg. At the same time, it is a public health problem because these HBV variants can also be transmitted by vertical and horizontal routes. Therefore, when atypical serological profiles are encountered, it is of utmost importance to remember S gene mutations and perform necessary analyses.

Parole chiave

  • HBsAg diagnostic test
  • vaccine-escape HBV variant
  • false negative HBsAg
Accesso libero

Undetectable hemoglobin in a patient with chronic uterine bleeding

Pubblicato online: 04 Nov 2019
Pagine: 427 - 429

Astratto

Accesso libero

Exploring eponyms in a corpus of medical articles. Origins and meanings

Pubblicato online: 04 Nov 2019
Pagine: 431 - 440

Astratto

10 Articoli
Accesso libero

Genetic testing in pediatrics - a narrative essay of challenges and possibilities in Romania

Pubblicato online: 04 Nov 2019
Pagine: 355 - 359

Astratto

Accesso libero

The influence of hemodialysis on FibroTest parameters

Pubblicato online: 04 Nov 2019
Pagine: 361 - 373

Astratto

Abstract

Chronic hepatitis C viral infection is an important cause of morbidity and mortality in patients with end-stage renal disease treated with hemodialysis. Liver fibrosis represents a main determinant of liver disease prognosis and clinical management, and its assessment by liver biopsy can decide treatment allocation. Although liver biopsy is the gold standard for staging liver fibrosis, it is an invasive procedure associated with complications that are more prevalent in patients with end-stage renal disease. FibroTest represents a surrogate marker of fibrosis which evaluates the levels of apolipoprotein A1, total bilirubin, haptoglobin, gamma-glutamyltransferase and α2-macroglobulin, generating a score that indicates the level of fibrosis. Discrepancies were observed in clinical practice between FibroTest score and histopathological findings. The aim of this study was to evaluate how hemodialysis influences the level of each FibroTest parameter and the final score. The systematic literature review conducted by us suggests that hemodialysis induces a reduction in apolipoprotein A1, haptoglobin and bilirubin levels, with an increase in gamma-glutamyltransferase and alpha-2-macroglobulin levels. In conclusion, hemodialysis modifies the levels of FibroTest parameters, suggesting that it may also have an impact on the accuracy of liver fibrosis assessment in hemodialysis patients.

Parole chiave

  • hemodialysis
  • apolipoprotein A1
  • bilirubin
  • alpha-2-macroglobulin
  • haptoglobin
  • gamma-glutamyltransferase
Accesso libero

Hemolysis has no influence on routine coagulation tests in subjects without anticoagulant therapy - a referral Romanian emergency hospital laboratory experience

Pubblicato online: 04 Nov 2019
Pagine: 375 - 382

Astratto

Abstract

The aim of this study was to determine the rate of hemolyzed specimens sent to our laboratory for coagulation testing, assess the interference of hemolysis on coagulation for patients without anticoagulant therapy and to determine the reference intervals for PT, INR and aPTT for our laboratory in order to test our own limitations.

Methods: To determine the hemolysis rate, 1,689 specimens were evaluated on a visual scale and with the hemolysis icterus lipemia (HYL) test on Architect c4000 instrument. 125 blood samples collected from subjects without anticoagulant therapy were hemolyzed in vitro and the PT, INR and aPTT results were compared before and after hemolysis.To determine reference intervals (RI) for PT, INR and aPTT in our population, 125 apparently healthy human subjects (according to CLSI C28-A2) were enrolled and tests were performed on Sysmex CS 2000i, using Siemens reagents.

Results: Out of 1,689 samples, 9.46% were assessed as hemolyzed by the visual scale, while HYL test showed a 6.63% hemolysis rate. We found a shortening of 0.1s for PT, a diminution with 0.01 units for INR and a prolongation with 0.9s for aPTT from in vitro hemolyzed compared to non-lyzed samples. As to the reference intervals, we obtained in our laboratory versus reagents producer: for PT 9.8-13.9 s vs 9.8-12.1 s, and for aPTT 19.1-31.5s vs 23-31.9 s respectively; 28.38% more PT results and 13.44% more aPTT results were within range when we used local laboratory RI, compared to the manufacturer’s RI.

Conclusions: The rate of hemolyzed coagulation samples in our laboratory is higher than the rate found in the literature. Nevertheless, for patients without anticoagulant therapy hemolyzed samples should be processed. Using our own reference interval leads to a significant reduced number of abnormal results.

Parole chiave

  • hemolysis
  • coagulation
  • reference intervals
Accesso libero

The evaluation of the reverse algorithm for syphilis screening in blood donors

Pubblicato online: 04 Nov 2019
Pagine: 383 - 388

Astratto

Abstract

Background: In Turkey, prior to transfusion and apheresis, it is mandatory to screen blood for HBsAg, anti-HCV, anti-HIV 1/2, and syphilis. In recent years, efforts have been made to create effective diagnostic algorithms for screening, and as a screening strategy, many countries have switched from traditional algorithms to reverse algorithms. This study was carried out to evaluate the results we obtained after changing to chemiluminescence immunoassay (CLIA) based reverse algorithm, which is more sensitive and specific than the traditional algorithm and VDRL test we currently use for syphilis screening.

Methods: The screening algorithm was initiated with the treponemal CLIA method. The reactive samples were tested using a nontreponemal test VDRL and a second treponemal test TPHA. In the descriptive analyses, the averages, numbers, and percentage distributions were calculated. The group comparisons were undertaken with the chi-square test, accepting p < 0.05 as statistically significant.

Results: Of the 5,053 samples that were tested with CLIA syphilis TPA assay 5,043 were negative (99.802%) and 10 were positive reactive (0.198%), and the difference between the two was statistically significant (p < 0.001). Ten samples that were recurrently reactive were analyzed by VDRL and TPHA tests simultaneously. VDRL was negative in all 10 samples, whereas TPHA was negative in one sample, but positive in nine samples at a titer of ≥1/160.

Conclusion: Based on the results of this study, we decided to use the CLIA method and reverse algorithm instead of using the traditional algorithm and VDRL as the initial screening method.

Parole chiave

  • blood donors
  • syphilis screening tests
  • confirmation
  • reverse algorithm
Accesso libero

Acute effects of recreational soccer on inflammatory response and cardiac and skeletal muscle damage indicators

Pubblicato online: 04 Nov 2019
Pagine: 389 - 399

Astratto

Abstract

Introduction: Previous studies have indicated that acute bouts of strenuous, long duration exercise induce significant increases in the inflammatory profile and cardiovascular risk markers. Although recreational soccer (RS) is a widespread activity, there are no data on this topic. Thus, the aim of this study was to examine RS-induced changes in inflammatory, cardiac, and skeletal muscle damage indicators in young and middle-aged males.

Methods: Twelve young and 11 middle-aged males participated in the study. The participants played 6v6 1 h RS, where heart rate (HR) responses and external loads (distance covered, number of accelerations/decelerations) were determined. Blood samples were taken immediately prior to and following the matches, and 2 h, 4 h, 24 h, 48 h, and 72 h later.

Results: Absolute HR responses and the number of accelerations and decelerations were higher in young participants than the middle-aged participants (p < 0.05). RS increased high sensitivity cardiac troponin I (hs-cTnI) in almost all participants. A total of 83.3% of the young participants exceeded the upper reference limit (URL), whereas none of the middle-aged participants exceeded the URL. Hs-cTnI levels returned to baseline after 24 and 48 h in the middle-aged and young participants, respectively. High sensitivity C-reactive protein (hs-CRP) and creatine kinase (CK) increased in the middle-aged participants (p < 0.05), and in the young participants, though not significantly (p > 0.05). RS also led to significant increases in lactate dehydrogenase (LDH) in both groups (p < 0.05). Hs-CRP, CK, and LDH values returned to baseline levels within 48 to 72 h, except for the LDH values of the young participants.

Conclusion: RS induced short-term increases in cardiac and skeletal muscle damage markers and the inflammatory profile in young and middle-aged RS participants.

Parole chiave

  • cardiovascular system
  • cardiac troponin
  • health and exercise
  • muscle damage
  • inflammation
Accesso libero

The angiotensinogen gene polymorphism, lifestyle factors, associated diseases and gastric areas of inflammatory and preneoplastic lesions in a Romanian sample of patients

Pubblicato online: 04 Nov 2019
Pagine: 401 - 411

Astratto

Abstract

The aim of our study was to evaluate the association between variant genotype of angiotensinogen (AGT) c.-58A>C, lifestyle factors and clinical factors and corporeal extension of gastric inflammatory and preneoplastic lesions.

Methods: Our study included 209 subjects who underwent a complete set of gastric biopsies, followed by genotyping. They were included to study inflammatory gastric changes and preneoplastic lesions and were grouped according to the localization of changes.

Results: No significant statistical associations were noticed between AGT c.-58A>C genotypes and the corporeal extension of the inflammation or preneoplastic injury groups. Extending preneoplastic lesions to the gastric body was associated with smoking habits (p=0.01) and additionally, there was a significant association between nicotine consumption and the body extension of preneoplastic lesions (p=0.01). The use of acenocoumarol was frequently associated with the progression of histological lesions to preneoplastic lesions (p=0.01). Compared with the wild-type AA genotype, the combined genotypes AA+CC of AGT c.-58A>C were significantly associated with the progression of inflammatory gastric lesions’ according to the regular ingested doses of nonsteroidal anti-inflammatory drugs (NSAIDs).

Conclusion: The AGT c.-58A>C polymorphism is not associated with extension of the gastric lesions. In accordance with nicotine and alcohol consumption, the acenocoumarol co-treatment and multiple cardiac pathologies are associated with the corporeal progression of these injuries. The age below 70 years and NSAIDs treatment for the patients with heterozygous AC genotype and variant homozygous CC genotype for the mentioned SNP have been associated with the corporeal extension of gastric inflammation.

Parole chiave

  • AGT gene polymorphism
  • lifestyle factors
  • extension of gastric lesions
Accesso libero

Is there a correlation between GAD2 gene-243 A>G polymorphism and obesity?

Pubblicato online: 04 Nov 2019
Pagine: 413 - 420

Astratto

Abstract

Introduction: GAD2 gene encodes the glutamate decarboxylase enzyme which catalyses the transformation of glutamate into γ-aminobutyric acid, GABA. It is suggested that some polymorphic alleles of GAD2 gene, such as -243A>G, have an increased transcriptional effect compared with the wild type, which results in an increase of GABA in the hypothalamus with the subsequent increase of the neuropeptide Y, thus exacerbating the hunger centre and the appetite. The aim of this study was to observe an association between the -243A>G polymorphism with obesity, comparatively studying a group of obese patients and a group of patients with normal weight.

Patients and method: 127 patients were clinically evaluated in the Genetic and Endocrine Department of Children’s Emergency Clinical Hospital, Cluj. The patients were included in two study groups, case group, with obesity (BMI higher than 97 kg/m2) and control group, with normal weight (BMI less than 97 kg/m2). Genotyping for GAD2-243A>G polymorphism was performed using PCR-RFLP technique, the two groups being compared regarding the genotypes and phenotypes.

Results and conclusions: In the obesity group, there is a statistically significant difference in BMI (kg/m2) between the subgroups with different genotypes (p=0.01), the AA genotype being less severely affected than AG and GG genotypes. In the normal weight group there is no association between BMI and different genotypes (AA, AG or GG). Also, there is a greater distribution of GG genotypes and G allele in the obesity group compared with the control group, with an odds ratio which suggest that -243A>G polymorphism is a risk factor in obesity development (GG genotype OR=3.76, G allele OR=1.73, p=0.04).

The finding of our study is important in explaining the multifactorial model of obesity, our research demonstrating that the GAD2-243 A> G variant could be a risk factor that added to other obesogenic factors would potentiate their effect.

Parole chiave

  • obesity
  • GAD2 gene
  • polymorphism
Accesso libero

A chronic hepatitis B patient infected with HBsAg diagnostic-escape strain in the presence of anti-HBs positivity

Pubblicato online: 04 Nov 2019
Pagine: 421 - 426

Astratto

Abstract

Hepatitis B virus (HBV) is an important pathogen responsible for serious diseases like chronic hepatitis, cirrhosis and liver cancer. Turkey is located in the intermediate endemic region based on the average HBV surface antigen positivity. The high replication capacity of HBV and the lack of proofreading activity of the reverse transcriptase (RT) enzyme makes the virus prone to mutations. In this study, S gene mutation which is detected in a chronic HBV case without any follow-up and treatment is presented. Although patient was HBsAg negative and anti-HBs positive in the examinations, the mutation analysis was performed upon the high level of HBV DNA load and sG145R (vaccine escape) mutation in S gene region and rtI169F, rtV173L, rtA181G and rtT184R mutations in pol gene region were detected. S gene region mutations may cause false negatives in diagnostic assays that detect HBsAg. At the same time, it is a public health problem because these HBV variants can also be transmitted by vertical and horizontal routes. Therefore, when atypical serological profiles are encountered, it is of utmost importance to remember S gene mutations and perform necessary analyses.

Parole chiave

  • HBsAg diagnostic test
  • vaccine-escape HBV variant
  • false negative HBsAg
Accesso libero

Undetectable hemoglobin in a patient with chronic uterine bleeding

Pubblicato online: 04 Nov 2019
Pagine: 427 - 429

Astratto

Accesso libero

Exploring eponyms in a corpus of medical articles. Origins and meanings

Pubblicato online: 04 Nov 2019
Pagine: 431 - 440

Astratto

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