- Email: [email protected]
-DQ8 method to identify people susceptible to celiac disease
Abstracts / Digestive and Liver Disease 49(4S) (2017) e243–e286
patient 2 EMA negative, HLA predisposed subjects were tested as matched controls (same sex, age and ethnicity). Celiac disease was diagnosed according to the ESPGHAN 2012 criteria. Children with IgA-deficiency were excluded. Results: A total of 114 HLA predisposed children (38 EMA positive and 76 EMA negative) were tested for AGA IgA. AGA IgA were positive in 55% of EMA positive subjects and negative in 100% of EMA negative (SE: 55%, SP: 100%, PPV: 100%, NPV: 81.7%), TTG IgA were positive in 100% of EMA positive subjects. In the EMA positive group CD has been confirmed so far in 24 patients and AGA IgA were positive in 71% of these (SE: 71%, SP: 100%, PPV: 100%, NPV: 86.3%). Conclusions: Previous prevalence studies based on AGA IgA as the initial screening test would have underestimated the prevalence of CD. This discrepancy should be taken into account when comparing current prevalence of CD (based on EMA as screening technique) to previous figures. Conflict of interest: None declared. http://dx.doi.org/10.1016/j.dld.2017.09.083 P080 Validation of a novel single-drop rapid HLA-DQ2/-DQ8 method to identify people susceptible to celiac disease A.K. Verma 1,∗ , A. Singh 2 , S. Gatti 1 , E. Lionetti 1 , T. Galeazzi 1 , V. Ahuja 2 , C. Catassi 1 , G. Makharia 2 1 2
Università Politecnica delle Marche, Italy All India Institute of Medical Sciences, Italy
Background: Major histocompatibility complex (HLA) HLADQ2 and/or DQ8 is considered essential risk-factor for celiac disease (CeD). About 90–95% of patients with CeD have HLA DQ2/DQ8 haplotype and HLA DQ2/DQ8 typing is considered as an additional diagnostic test. Conventional PCR-based HLA typing method is expensive and complex, requires well-trained person to perform test and it takes hours to provide result. We assessed efficacy of a new-fangled sequence-specific, primer based rapid single PCR reaction HLA method for detection of HLA-DQ2/-DQ8. Rapid test takes about one and half hours to complete the test. Methods: For detecting the sensitivity of rapid test in comparison to the gold standard test, we required subjects with a positive HLA-DQ2/DQ8 haplotype where HLA haplotype has been determined by the standard SSO-PCR testing (Gold standard) as well as DQ2/DQ8 negative samples. We performed rapid HLA test using a BioDiagene Celiac Gene Screen kit, that foresees a rapid DNA extraction (1 min), a DNA amplification and a detection using a fluorescence reader. In addition to 101 patients with known HLA for assessment of sensitivity, we also determined HLA-DQ2/DQ8 status in additional 219 samples (CeD n = 209 and healthy controls n = 10) using rapid HLA haplotype detection test. Results: Of 101 known HLA results, 79 were positive HLADQ2/DQ8 and 22 were HLA-DQ2/DQ8 negative samples by standard test, all 79 reported positive and 22 reported negative by rapid test. There was an excellent concordance rate between testing by standard method and rapid method. Amongst unknown samples, 186 of 209 of CeD, and 2 of 10 healthy controls were either/or HLA-DQ2/DQ8 positive by the rapid test. Conclusion: Rapid single PCR reaction HLA gene test method showed an excellent concordance with standard test. Rapid testing could be a cost reducing and an effective tool for CeD gene screening. Conflict of interest: None declared. http://dx.doi.org/10.1016/j.dld.2017.09.084
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P081 Prevalence of gastrointestinal disorders in a cohort of children affected by type 1 and 2 spinal muscular atrophy V. Giorgio 1,∗ , A. Ciliberti 1 , D. Panico 1 , C. Palermo 2 , D. Leone 2 , M. Pane 2 , P. Valentini 1 1
Fondazione Policlinico Universitario Agostino Gemelli, UO Pediatria, Italy 2 Fondazione Policlinico Universitario Agostino Gemelli, Centro Clinico NEMO Pediatrico, UO Pediatria, Italy Background and aim: Gastrointestinal (GI) disorders are significant problems in children with Spinal Muscular Atrophy (SMA), but little is known about the prevalence of these disorders in this population. The aim of this study was to evaluate the prevalence of GI disorders in a cohort of children affected by type I and II SMA. Methods: We submitted to children and caregivers a semistructured questionnaire concerning dietary habits, nutrients and swallowing difficulties, frequency of symptoms of gastroesophageal reflux, stool characteristics and any ongoing therapies. To evaluate bowel habits we used the Bristol Stool Chart. Results: We enrolled 54 children, 8 with type I and 46 with type II SMA (30 males, median age 6,6 years). Regarding the prevalence of gastroesophageal symptoms, 52% complained of dysphagia, 33% of regurgitation. Other symptoms such as vomiting (22%), thoracoabdominal pain (20%) and cough tied to meal (15%) were present less frequently and are significantly prevalent in SMA I patients. Analyzing the prevalence of constipation, 54% of SMA patients presented a stool frequency characterized by less than 3 bowel movements per week (types 1-2 of the Bristol Stool Chart), thus needing medically assisted defecation with Polyethylene glycol which shows, in time, an improving trend in frequency, consistency and shape of stool. Conclusion: GI functional disorders are prevalent in type I and II SMA patients. Polyethylene glycol should be included in chronic therapies of constipated SMA patients to improve defecation and quality of life. Conflict of interest: None declared. http://dx.doi.org/10.1016/j.dld.2017.09.085 P082 Nutritional status in a cohort of children with type 1 and 2 spinal muscular atrophy V. Giorgio 1,∗ , D. Panico 1 , A. Ciliberti 1 , S. Filoni 1 , F. Proli 1 , E. Blasi 1 , D. Leone 2 , C. Palermo 2 , M. Pane 2 1 Fondazione Policlinico Universitario Agostino Gemelli, U.O. Pediatria, Italy 2 Fondazione Policlinico Universitario Agostino Gemelli, Centro Clinico Nemo Pediatrico, Italy
Background and aim: Patients affected by Spinal Muscular Atrophy (SMA) have to face with nutritional problems chronically, but specific nutritional challenges in this population are not well recognized. We aimed to describe the nutritional status of children with type 1 and type 2 SMA. Methods: We recruited a prospective consecutive cohort of children diagnosed with type 1 and type 2 SMA at a tertiary care center. Nutritional status was assessed by a semi-structured questionnaire administered to care-givers, structured by 48-h food diary to quantify caloric intake, food texture and duration of meals. Nutritional
patient 2 EMA negative, HLA predisposed subjects were tested as matched controls (same sex, age and ethnicity). Celiac disease was diagnosed according to the ESPGHAN 2012 criteria. Children with IgA-deficiency were excluded. Results: A total of 114 HLA predisposed children (38 EMA positive and 76 EMA negative) were tested for AGA IgA. AGA IgA were positive in 55% of EMA positive subjects and negative in 100% of EMA negative (SE: 55%, SP: 100%, PPV: 100%, NPV: 81.7%), TTG IgA were positive in 100% of EMA positive subjects. In the EMA positive group CD has been confirmed so far in 24 patients and AGA IgA were positive in 71% of these (SE: 71%, SP: 100%, PPV: 100%, NPV: 86.3%). Conclusions: Previous prevalence studies based on AGA IgA as the initial screening test would have underestimated the prevalence of CD. This discrepancy should be taken into account when comparing current prevalence of CD (based on EMA as screening technique) to previous figures. Conflict of interest: None declared. http://dx.doi.org/10.1016/j.dld.2017.09.083 P080 Validation of a novel single-drop rapid HLA-DQ2/-DQ8 method to identify people susceptible to celiac disease A.K. Verma 1,∗ , A. Singh 2 , S. Gatti 1 , E. Lionetti 1 , T. Galeazzi 1 , V. Ahuja 2 , C. Catassi 1 , G. Makharia 2 1 2
Università Politecnica delle Marche, Italy All India Institute of Medical Sciences, Italy
Background: Major histocompatibility complex (HLA) HLADQ2 and/or DQ8 is considered essential risk-factor for celiac disease (CeD). About 90–95% of patients with CeD have HLA DQ2/DQ8 haplotype and HLA DQ2/DQ8 typing is considered as an additional diagnostic test. Conventional PCR-based HLA typing method is expensive and complex, requires well-trained person to perform test and it takes hours to provide result. We assessed efficacy of a new-fangled sequence-specific, primer based rapid single PCR reaction HLA method for detection of HLA-DQ2/-DQ8. Rapid test takes about one and half hours to complete the test. Methods: For detecting the sensitivity of rapid test in comparison to the gold standard test, we required subjects with a positive HLA-DQ2/DQ8 haplotype where HLA haplotype has been determined by the standard SSO-PCR testing (Gold standard) as well as DQ2/DQ8 negative samples. We performed rapid HLA test using a BioDiagene Celiac Gene Screen kit, that foresees a rapid DNA extraction (1 min), a DNA amplification and a detection using a fluorescence reader. In addition to 101 patients with known HLA for assessment of sensitivity, we also determined HLA-DQ2/DQ8 status in additional 219 samples (CeD n = 209 and healthy controls n = 10) using rapid HLA haplotype detection test. Results: Of 101 known HLA results, 79 were positive HLADQ2/DQ8 and 22 were HLA-DQ2/DQ8 negative samples by standard test, all 79 reported positive and 22 reported negative by rapid test. There was an excellent concordance rate between testing by standard method and rapid method. Amongst unknown samples, 186 of 209 of CeD, and 2 of 10 healthy controls were either/or HLA-DQ2/DQ8 positive by the rapid test. Conclusion: Rapid single PCR reaction HLA gene test method showed an excellent concordance with standard test. Rapid testing could be a cost reducing and an effective tool for CeD gene screening. Conflict of interest: None declared. http://dx.doi.org/10.1016/j.dld.2017.09.084
e273
P081 Prevalence of gastrointestinal disorders in a cohort of children affected by type 1 and 2 spinal muscular atrophy V. Giorgio 1,∗ , A. Ciliberti 1 , D. Panico 1 , C. Palermo 2 , D. Leone 2 , M. Pane 2 , P. Valentini 1 1
Fondazione Policlinico Universitario Agostino Gemelli, UO Pediatria, Italy 2 Fondazione Policlinico Universitario Agostino Gemelli, Centro Clinico NEMO Pediatrico, UO Pediatria, Italy Background and aim: Gastrointestinal (GI) disorders are significant problems in children with Spinal Muscular Atrophy (SMA), but little is known about the prevalence of these disorders in this population. The aim of this study was to evaluate the prevalence of GI disorders in a cohort of children affected by type I and II SMA. Methods: We submitted to children and caregivers a semistructured questionnaire concerning dietary habits, nutrients and swallowing difficulties, frequency of symptoms of gastroesophageal reflux, stool characteristics and any ongoing therapies. To evaluate bowel habits we used the Bristol Stool Chart. Results: We enrolled 54 children, 8 with type I and 46 with type II SMA (30 males, median age 6,6 years). Regarding the prevalence of gastroesophageal symptoms, 52% complained of dysphagia, 33% of regurgitation. Other symptoms such as vomiting (22%), thoracoabdominal pain (20%) and cough tied to meal (15%) were present less frequently and are significantly prevalent in SMA I patients. Analyzing the prevalence of constipation, 54% of SMA patients presented a stool frequency characterized by less than 3 bowel movements per week (types 1-2 of the Bristol Stool Chart), thus needing medically assisted defecation with Polyethylene glycol which shows, in time, an improving trend in frequency, consistency and shape of stool. Conclusion: GI functional disorders are prevalent in type I and II SMA patients. Polyethylene glycol should be included in chronic therapies of constipated SMA patients to improve defecation and quality of life. Conflict of interest: None declared. http://dx.doi.org/10.1016/j.dld.2017.09.085 P082 Nutritional status in a cohort of children with type 1 and 2 spinal muscular atrophy V. Giorgio 1,∗ , D. Panico 1 , A. Ciliberti 1 , S. Filoni 1 , F. Proli 1 , E. Blasi 1 , D. Leone 2 , C. Palermo 2 , M. Pane 2 1 Fondazione Policlinico Universitario Agostino Gemelli, U.O. Pediatria, Italy 2 Fondazione Policlinico Universitario Agostino Gemelli, Centro Clinico Nemo Pediatrico, Italy
Background and aim: Patients affected by Spinal Muscular Atrophy (SMA) have to face with nutritional problems chronically, but specific nutritional challenges in this population are not well recognized. We aimed to describe the nutritional status of children with type 1 and type 2 SMA. Methods: We recruited a prospective consecutive cohort of children diagnosed with type 1 and type 2 SMA at a tertiary care center. Nutritional status was assessed by a semi-structured questionnaire administered to care-givers, structured by 48-h food diary to quantify caloric intake, food texture and duration of meals. Nutritional