La Rivista Italiana della Medicina di Laboratorio - Italian Journal of Laboratory Medicine, 2013
RiassuntoPremesse. La malattia celiaca (MC) è una condizione clinica multifattoriale scatenata da... more RiassuntoPremesse. La malattia celiaca (MC) è una condizione clinica multifattoriale scatenata da un fattore esterno, il glutine, su una base genetica predisponente, dove il ruolo principale è svolto dai geni DQ2 e/o DQ8 appartenenti al sistema Human Leucocyte Antigen (HLA) di classe II. Nelle malattie complesse i test genetici sono predittivi di suscettibilità, ma non risultano avere un significativo ruolo diagnostico. Al contrario, nella MC la tipizzazione HLA può essere di notevole aiuto, come per esempio nei casi di malattia celiaca refrattaria o in soggetti a rischio, quali i familiari di primo grado del paziente celiaco.La tipizzazione dell’HLA presenta alcuni limiti, dovuti principalmente al suo elevato costo e alla difficoltà di esecuzione del test. In questo studio sono state valutate le performance di due test: il Celiac Gene Screen e il Celiac Gene Typing, proposti da BioDiagene (Palermo, Italia). I due test sono stati comparati con il test per HLA DQ2/DQ8 della Eurospital (Trieste, Italia).Metodi. Lo studio è stato eseguito su 95 pazienti, di cui 7 con diagnosi di MC. Il Celiac Gene Screen è un test genetico rapido e a basso costo che permette di definire se nel campione in esame è presente uno degli alleli DQ2 o DQ8 indipendentemente dallo stato di omozigosi o eterozigosi. Il secondo metodo è invece in grado di determinare nello specifico il genotipo HLA, permettendo la stratificazione del rischio genetico per MC.Risultati. È stata ottenuta una concordanza del 100% sia fra i due test BioDiagene sia rispetto al test Eurospital.Conclusioni. Questo studio ha evidenziato le ottime performance dei due metodi. Inoltre, l’utilizzo del Celiac Gene Screen, grazie al suo basso costo, potrebbe modificare l’algoritmo diagnostico di laboratorio finora proposto e costituire esso stesso un test di primo livello, almeno in soggetti asintomatici, ma con elevate condizioni di rischio per lo sviluppo della MC e, ancora, rappresentare un test di screening di popolazione.SummaryBackground. Celiac disease (CD) is a multifactorial disorder characterized by intolerance to gluten and associated to genetic predisposition, mainly with Human Leucocyte Antigens (HLA) class II genes. In the complex pathologies, genetic tests are predictive of susceptibility, but they aren’t diagnostic. However, its determination can be helpful in several cases, for example, refractory celiac disease or in risk groups, as first-degree relatives of patients with celiac disease.Typing HLA pattern have several limits: elevated cost, execution time too long, difficult interpretation of results. Moreover, genetic tests are limited to specialized laboratories.In this study we have assessed the performance of two tests: the Celiac Gene Screen and the Celiac Gene Typing (BioDiagene, Palermo, Italy). The two tests are compared with the Eu-Gen Risk Eurospital kit (Trieste, Italy).Methods. We have analyzed 95 subjects, 7 of these presented CD. The Celiac Gene Screen is a test for identification of samples susceptible to CD, but it does not discriminate the DQ2 and DQ8 alleles, independently homozygosis or heterozygosis status.The Celiac Gene Typing is a method for the detection of HLA class II genotype associated with CD. For each sample analyzed, individual alleles are detected by the kit and the corresponding serologic haplotype. Celiac Gene Typing identifies the presence of the alleles that codify for the DQ2 and DQ8 heterodimers that determine the risk of developing CD.Results. We have obtained 100% concordance between two BioDiagene tests and Eurospital test.Conclusions. This study has underlined excellent performances of two methods. Furthermore, the use of Celiac Gene Screen, to low cost, could be modify diagnostic laboratory flow-chart proposed until now, and it become a test of first level, at least in asymptomatic subjects, but with elevated risk conditions to develop the CD and, even, represent a screening test of population.
Sixty-five HIV-infected patients received high-dose (40mug), short interval HBV vaccine. In non-r... more Sixty-five HIV-infected patients received high-dose (40mug), short interval HBV vaccine. In non-responders to the initial immunization, 1-3 boosters were administered. Rate of response was 60.0% after primary vaccination, and 89.2% after boosters. However, 12 and 24 months after the last vaccination, only 63% and 32.7% of the responders, respectively, had persistence of protective anti-HBs titers (> or =10 IU/L). The results of logistic regression show that gender, CD4 count, and HIV viral load were significant predictors of vaccination outcome. This study suggests that in HIV-infected patients with relatively high CD4 count, response to high dose of HBV vaccine is suboptimal. Rate of response may be increased by vaccine boosts, but antibody titers are significantly lower in non-responders than in responders to primary vaccination. Since persistence of anti-HBs titers appears significantly related to antibody titers after the immunization procedure, monitoring of anti-HBs, particularly in patients with low level of protective antibody titers after primary vaccination or boosters, seems more than justified.
Aim of the study. To evaluate the prevalence and persistence of ZnT8A, in a cohort of Pediatric d... more Aim of the study. To evaluate the prevalence and persistence of ZnT8A, in a cohort of Pediatric diabetic patients, to assess reliability and relationship with other T1DM diagnostic markers. Methods. Sera from 97 T1DM pediatric patients (53.6% M/46.4% F, age 11.1 ± 3.9 yrs), and 112 controls (51.8% M/48.2% F, age 9.6 ± 4.9 yrs; with no T1D or family history of autoimmune diseases) were analyzed for IgG ZnT8, GADA, IA2A and AIA by ELISA, and for IgG Islet Cell Antibodies (ICA) by an indirect immunofluorescence test on cryostat primate’s pancreas. Results. ZnT8A (cut-off 蠅 15 UA/ml) were present in 54.6% (53/97) T1DM patients (in two cases as the unique autoantibody) vs 97.3% (3/112) controls (p<0.0001). ZnT8A prevalence decreases among onset (25/40, 62.5%) and follow-up patients with 5 or more years of disease (12/29, 41.3%). The prevalence of ICA at disease onset was 33.3% compared to 66.7% for GADA, 73.3% for IA2A, 73.3% for ZnT8A and 6% for AIA. Conclusions. The sensitivity (54....
Sixty-five HIV-infected patients received high-dose (40mug), short interval HBV vaccine. In non-r... more Sixty-five HIV-infected patients received high-dose (40mug), short interval HBV vaccine. In non-responders to the initial immunization, 1-3 boosters were administered. Rate of response was 60.0% after primary vaccination, and 89.2% after boosters. However, 12 and 24 months after the last vaccination, only 63% and 32.7% of the responders, respectively, had persistence of protective anti-HBs titers (&amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;gt; or =10 IU/L). The results of logistic regression show that gender, CD4 count, and HIV viral load were significant predictors of vaccination outcome. This study suggests that in HIV-infected patients with relatively high CD4 count, response to high dose of HBV vaccine is suboptimal. Rate of response may be increased by vaccine boosts, but antibody titers are significantly lower in non-responders than in responders to primary vaccination. Since persistence of anti-HBs titers appears significantly related to antibody titers after the immunization procedure, monitoring of anti-HBs, particularly in patients with low level of protective antibody titers after primary vaccination or boosters, seems more than justified.
La Rivista Italiana della Medicina di Laboratorio - Italian Journal of Laboratory Medicine, 2013
RiassuntoPremesse. La malattia celiaca (MC) è una condizione clinica multifattoriale scatenata da... more RiassuntoPremesse. La malattia celiaca (MC) è una condizione clinica multifattoriale scatenata da un fattore esterno, il glutine, su una base genetica predisponente, dove il ruolo principale è svolto dai geni DQ2 e/o DQ8 appartenenti al sistema Human Leucocyte Antigen (HLA) di classe II. Nelle malattie complesse i test genetici sono predittivi di suscettibilità, ma non risultano avere un significativo ruolo diagnostico. Al contrario, nella MC la tipizzazione HLA può essere di notevole aiuto, come per esempio nei casi di malattia celiaca refrattaria o in soggetti a rischio, quali i familiari di primo grado del paziente celiaco.La tipizzazione dell’HLA presenta alcuni limiti, dovuti principalmente al suo elevato costo e alla difficoltà di esecuzione del test. In questo studio sono state valutate le performance di due test: il Celiac Gene Screen e il Celiac Gene Typing, proposti da BioDiagene (Palermo, Italia). I due test sono stati comparati con il test per HLA DQ2/DQ8 della Eurospital (Trieste, Italia).Metodi. Lo studio è stato eseguito su 95 pazienti, di cui 7 con diagnosi di MC. Il Celiac Gene Screen è un test genetico rapido e a basso costo che permette di definire se nel campione in esame è presente uno degli alleli DQ2 o DQ8 indipendentemente dallo stato di omozigosi o eterozigosi. Il secondo metodo è invece in grado di determinare nello specifico il genotipo HLA, permettendo la stratificazione del rischio genetico per MC.Risultati. È stata ottenuta una concordanza del 100% sia fra i due test BioDiagene sia rispetto al test Eurospital.Conclusioni. Questo studio ha evidenziato le ottime performance dei due metodi. Inoltre, l’utilizzo del Celiac Gene Screen, grazie al suo basso costo, potrebbe modificare l’algoritmo diagnostico di laboratorio finora proposto e costituire esso stesso un test di primo livello, almeno in soggetti asintomatici, ma con elevate condizioni di rischio per lo sviluppo della MC e, ancora, rappresentare un test di screening di popolazione.SummaryBackground. Celiac disease (CD) is a multifactorial disorder characterized by intolerance to gluten and associated to genetic predisposition, mainly with Human Leucocyte Antigens (HLA) class II genes. In the complex pathologies, genetic tests are predictive of susceptibility, but they aren’t diagnostic. However, its determination can be helpful in several cases, for example, refractory celiac disease or in risk groups, as first-degree relatives of patients with celiac disease.Typing HLA pattern have several limits: elevated cost, execution time too long, difficult interpretation of results. Moreover, genetic tests are limited to specialized laboratories.In this study we have assessed the performance of two tests: the Celiac Gene Screen and the Celiac Gene Typing (BioDiagene, Palermo, Italy). The two tests are compared with the Eu-Gen Risk Eurospital kit (Trieste, Italy).Methods. We have analyzed 95 subjects, 7 of these presented CD. The Celiac Gene Screen is a test for identification of samples susceptible to CD, but it does not discriminate the DQ2 and DQ8 alleles, independently homozygosis or heterozygosis status.The Celiac Gene Typing is a method for the detection of HLA class II genotype associated with CD. For each sample analyzed, individual alleles are detected by the kit and the corresponding serologic haplotype. Celiac Gene Typing identifies the presence of the alleles that codify for the DQ2 and DQ8 heterodimers that determine the risk of developing CD.Results. We have obtained 100% concordance between two BioDiagene tests and Eurospital test.Conclusions. This study has underlined excellent performances of two methods. Furthermore, the use of Celiac Gene Screen, to low cost, could be modify diagnostic laboratory flow-chart proposed until now, and it become a test of first level, at least in asymptomatic subjects, but with elevated risk conditions to develop the CD and, even, represent a screening test of population.
Sixty-five HIV-infected patients received high-dose (40mug), short interval HBV vaccine. In non-r... more Sixty-five HIV-infected patients received high-dose (40mug), short interval HBV vaccine. In non-responders to the initial immunization, 1-3 boosters were administered. Rate of response was 60.0% after primary vaccination, and 89.2% after boosters. However, 12 and 24 months after the last vaccination, only 63% and 32.7% of the responders, respectively, had persistence of protective anti-HBs titers (&amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;gt; or =10 IU/L). The results of logistic regression show that gender, CD4 count, and HIV viral load were significant predictors of vaccination outcome. This study suggests that in HIV-infected patients with relatively high CD4 count, response to high dose of HBV vaccine is suboptimal. Rate of response may be increased by vaccine boosts, but antibody titers are significantly lower in non-responders than in responders to primary vaccination. Since persistence of anti-HBs titers appears significantly related to antibody titers after the immunization procedure, monitoring of anti-HBs, particularly in patients with low level of protective antibody titers after primary vaccination or boosters, seems more than justified.
Aim of the study. To evaluate the prevalence and persistence of ZnT8A, in a cohort of Pediatric d... more Aim of the study. To evaluate the prevalence and persistence of ZnT8A, in a cohort of Pediatric diabetic patients, to assess reliability and relationship with other T1DM diagnostic markers. Methods. Sera from 97 T1DM pediatric patients (53.6% M/46.4% F, age 11.1 ± 3.9 yrs), and 112 controls (51.8% M/48.2% F, age 9.6 ± 4.9 yrs; with no T1D or family history of autoimmune diseases) were analyzed for IgG ZnT8, GADA, IA2A and AIA by ELISA, and for IgG Islet Cell Antibodies (ICA) by an indirect immunofluorescence test on cryostat primate’s pancreas. Results. ZnT8A (cut-off 蠅 15 UA/ml) were present in 54.6% (53/97) T1DM patients (in two cases as the unique autoantibody) vs 97.3% (3/112) controls (p<0.0001). ZnT8A prevalence decreases among onset (25/40, 62.5%) and follow-up patients with 5 or more years of disease (12/29, 41.3%). The prevalence of ICA at disease onset was 33.3% compared to 66.7% for GADA, 73.3% for IA2A, 73.3% for ZnT8A and 6% for AIA. Conclusions. The sensitivity (54....
Sixty-five HIV-infected patients received high-dose (40mug), short interval HBV vaccine. In non-r... more Sixty-five HIV-infected patients received high-dose (40mug), short interval HBV vaccine. In non-responders to the initial immunization, 1-3 boosters were administered. Rate of response was 60.0% after primary vaccination, and 89.2% after boosters. However, 12 and 24 months after the last vaccination, only 63% and 32.7% of the responders, respectively, had persistence of protective anti-HBs titers (&amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;gt; or =10 IU/L). The results of logistic regression show that gender, CD4 count, and HIV viral load were significant predictors of vaccination outcome. This study suggests that in HIV-infected patients with relatively high CD4 count, response to high dose of HBV vaccine is suboptimal. Rate of response may be increased by vaccine boosts, but antibody titers are significantly lower in non-responders than in responders to primary vaccination. Since persistence of anti-HBs titers appears significantly related to antibody titers after the immunization procedure, monitoring of anti-HBs, particularly in patients with low level of protective antibody titers after primary vaccination or boosters, seems more than justified.
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