Knowledge regarding celiac disease among healthcare professionals, patients and their caregivers in Turkey.

BACKGROUND: Celiac disease (CD) is one of the most prevalent chronic disorders. The clinical manifestations of CD are diverse and may present with gastrointestinal findings, extra-intestinal findings or no symptoms. Although there has been a marked increase in the prevalence of CD in the past 30 years, up to 95% of patients with CD remain undiagnosed. As most cases have atypical signs or no symptoms, the diagnosis of CD is either missed or delayed. In addition, one of the most important reasons for the delay in diagnosis may be the poor knowledge of healthcare professionals (HCPs) regarding CD. AIM: To evaluate the knowledge of HCPs, patients and their caregivers (parents) regarding CD. METHODS: The current study was carried out between June 2021 and February 2022 prospectively, as part of the Focus IN CD project. Patients with CD and their caregivers participated in the study from 6 different cities in Turkey. General practitioners, pediatricians, pediatricians with other subspecialities and pediatric gastroenterologists from different cities participated in the study. RESULTS: The questionnaire was completed by 348 HCPs, 34 patients with CD, and 102 mothers and 34 fathers of patients with CD. Most of the participants were general practitioners (37.07%). There were 89 (25.57%) pediatricians and 72 (20.69%) pediatric gastroenterologists in the study. The highest score in all categories was achieved by pediatric gastroenterologists. There were significant differences between the four groups of HCPs in terms of the subsections of overall mean score, epidemiology and clinical presentation, treatment and follow-up. No significant difference was found between the groups (patients with CD, mothers of patients with CD and fathers of patients with CD) in terms of the questionnaire subsections. CONCLUSION: The level of knowledge on CD among HCPs, patients and their caregivers was unsatisfactory. We consider that it is necessary to increase awareness and to develop e-learning activities on CD among HCPs, patients and their caregivers. Consequently, they may benefit from e-learning programs similar to the one created as part of the EU-funded project Focus IN CD (https://www.celiacfacts.eu/focusincd-en).

Blood and faecal lead levels in children with various functional gastrointestinal disorders.

INTRODUCTION: To investigate the blood lead levels (BLLs) and faecal lead levels (FLLs) in children with various functional gastrointestinal disorders (FGIDs) and compare them with controls. PATIENTS AND METHODS: One hundred and two children with FGIDs defined by the Rome IV criteria, aged 4-18 years, and one hundred and two sex matched healthy children were enrolled in the study. Children with FGIDs were divided into three subgroups as functional constipation (FC) (n = 36), functional abdominal pain (FAP) (n = 36) and functional nausea (FN) (n = 30). The lead levels were measured using atomic absorption spectrometer. RESULTS: The median BLLs in the FGIDs group was significantly higher than in controls (5.12 and 1.77 µg/dL, respectively). The BLLs were above 5 µg/dL in 51,9% of children with FGIDs. There was statistically significant difference in BLLs between FC subgroup and the other subgroups (FAP and FN) (p = 0.003, p < 0.001 respectively). The FLLs in the FGIDs group was significantly higher than in controls (28.08 and 0.01 µg/g, respectively). There was no significant difference in FLLs between FC subgroup and the other subgroups (p = 0.992, p = 0.989 respectively). No significant relation found between BLLs and FLLs of the FGIDs group (p = 0.123). CONCLUSION: This study revealed that children with FGIDs had higher BLLs and FLLs than controls and also more than half of children with FGIDs had BLLs ≥5 µg/dL which is considered as toxic level. These results might revive the question of whether or not clinicians need to evaluate routine BLLs in children with FGIDs.

Niveles séricos y fecales de plomo en niños con distintos trastornos digestivos funcionales / Blood and faecal lead levels in children with various functional gastrointestinal disorders

Introducción: El objetivo del estudio fue determinar los niveles séricos y fecales de plomo en niños con distintos trastornos digestivos funcionales (TDF) en comparación con controles sanos. Pacientes y métodos: La muestra incluyó a 102 niños de 4-18 años con TDF definidos mediante los criterios de Roma IV y a 102 controles sanos emparejados por edad y sexo. Los niños con TDF se dividieron en 3 subgrupos: estreñimiento funcional (EF) (n=36), dolor abdominal funcional (DAF) (n=36) y náuseas funcionales (NF) (n=30). Los niveles de plomo se midieron mediante espectrometría de absorción atómica. Resultados: El nivel de plomo en sangre (NPS) mediano fue significativamente mayor en niños con TDF en comparación con controles (5,12 vs. 1,77μg/dl). Los NPS superaron los 5μg/dl en el 51,9% del grupo TDF. Se observó una diferencia estadísticamente significativa en los NPS entre el subgrupo con EF y los otros 2subgrupos (DAF y NF) (p=0,003 y p<0,001, respectivamente). Los niveles de plomo en heces (NPH) fueron significativamente mayores en niños con TDF en comparación con controles (28,08 vs. 0,01μg/g). No hubo diferencias significativas en los NPH entre el subgrupo de EF y los otros subgrupos (p=0,992 y p=0,989). No se encontró una correlación significativa entre los NPS y los NPH en niños con TDF (p=0,123). Conclusión: El presente estudio demostró que los niveles séricos y fecales de plomo eran superiores en niños con TDF en comparación con controles y que más de la mitad de los niños con TDF tenían NPS ≥ 5μg/dl, que se consideran tóxicos. A la vista de estos resultados, cabe replantearse si los clínicos han de determinar los NPS de manera rutinaria en niños con TDF.(AU)

Introduction: To investigate the blood lead levels (BLLs) and faecal lead levels (FLLs) in children with various functional gastrointestinal disorders (FGIDs) and compare them with controls. Patients and methods: One hundred and 2children with FGIDs defined by the Rome IV criteria, aged 4 -18 years, and one hundred and 2sex matched healthy children were enrolled in the study. Children with FGIDs were divided into 3subgroups as functional constipation (FC) (n=36), functional abdominal pain (FAP) (n=36) and functional náusea (FN) (n=30). The lead levels were measured using atomic absorption spectrometer. Results: The median BLLs in the FGIDs group was significantly higher than in controls (5.12 and 1.77μg/dL, respectively). The BLLs were above 5μg/dL in 51,9% of children with FGIDs. There was statistically significant difference in BLLs between FC subgroup and the other subgroups (FAP and FN) (P=.003, P<.001 respectively). The FLLs in the FGIDs group was significantly higher than in controls (28.08 and 0.01μg/g, respectively). There was no significant difference in FLLs between FC subgroup and the other subgroups (P=.992, P=.989 respectively). No significant relation found between BLLs and FLLs of the FGIDs group (P =.123). Conclusion: This study revealed that children with FGIDs had higher BLLs and FLLs than controls and also more than half of children with FGIDs had BLLs ≥5μg/dL which is toxic level. These results might revive the question of whether or not clinician need to evaluate routine BLLs in children with FGIDs.(AU)

Blood and Stool Arsenic Levels Are Decisive for Diagnosing Children's Functional Gastrointestinal Disease (FGD).

Pediatric gastroenteritis is a potentially fatal disease that accounts for 10% of childhood deaths. The main risk is environmental factors and nutrition. Arsenic (As) is commonly found in the earth's crust. As is an essential element that can form many organic compounds. In children, it causes diarrhea, gums, tongue lesions, diabetes, conjunctivitis, ocular opacity, and impaired immune response. It also causes low growth, mental retardation, and neurological problems. It is also known as the cause of many cancers that originate at an early age. Regionally, there is an iron and steel industry for almost a century. According to the Rome IV criteria, the blood and stools of 50 children aged 6-18 years, male and female, living in our province with functional gastrointestinal disease (FGD), were screened for As, and compared with the Healthy group (control) of 30 children. The results were evaluated with the Mann-Whitney Rank Sum Test. When blood and stool As values in males were compared with control samples, a high level of significance (p = 0.001) was found between both blood and stool As values in sick males and the control group (p < 0.005). In females, blood and stool As median values were also highly significant when compared with the control group (p = 0.001). According to these data, when the sick children (children with male and female gender) are compared with the healthy ones, the difference is highly significant (p < 0.005). High blood As levels in children indicate environmental pollution. It can be said that blood As levels are high as a result of food, water, and inhaler exposure. The presence of a high level of significant difference in stool means that the amount of As is high in the foods consumed daily. High levels of As are in blood and stools; It was evaluated that FGD could be the cause of nausea, diarrhea, vomiting, and colic. The increase in blood and stool As values due to environmental pollution is an important reason for FGD. For diseases of uncertain cause (such as FGD) resulting from chronic As exposure, blood and especially stool As values are more significant than urinary As levels. In conclusion, As a diagnostic criterion, it was concluded that blood and stool As values are an important marker in children with functional abdominal pain with other metals.

[Blood and faecal lead levels in children with various functional gastrointestinal disorders]. / Niveles séricos y fecales de plomo en niños con distintos trastornos digestivos funcionales.

INTRODUCTION: To investigate the blood lead levels (BLLs) and faecal lead levels (FLLs) in children with various functional gastrointestinal disorders (FGIDs) and compare them with controls. PATIENTS AND METHODS: One hundred and 2children with FGIDs defined by the Rome IV criteria, aged 4 -18 years, and one hundred and 2sex matched healthy children were enrolled in the study. Children with FGIDs were divided into 3subgroups as functional constipation (FC) (n=36), functional abdominal pain (FAP) (n=36) and functional náusea (FN) (n=30). The lead levels were measured using atomic absorption spectrometer. RESULTS: The median BLLs in the FGIDs group was significantly higher than in controls (5.12 and 1.77µg/dL, respectively). The BLLs were above 5µg/dL in 51,9% of children with FGIDs. There was statistically significant difference in BLLs between FC subgroup and the other subgroups (FAP and FN) (P=.003, P<.001 respectively). The FLLs in the FGIDs group was significantly higher than in controls (28.08 and 0.01µg/g, respectively). There was no significant difference in FLLs between FC subgroup and the other subgroups (P=.992, P=.989 respectively). No significant relation found between BLLs and FLLs of the FGIDs group (P =.123). CONCLUSION: This study revealed that children with FGIDs had higher BLLs and FLLs than controls and also more than half of children with FGIDs had BLLs ≥5µg/dL which is toxic level. These results might revive the question of whether or not clinician need to evaluate routine BLLs in children with FGIDs.

SLC26A3 mutation in Turkish neonate and her sibling with congenital chloride diarrhea.

Congenital chloride diarrhea is a rare cause of severe infantile diarrhea with excessive chloride excretion. Mutations in the SLC26A3 gene cause congenital chloride diarrhea. It generally becomes apparent in the neonatal period and is characterized by electrolyte imbalances, metabolic alkalosis, and failure to thrive. The diagnosis of congenital chloride diarrhea is based on detecting excessive chloride in the stool (90 mmol/L). We report a Turkish neonate with congenital chloride diarrhea whose sibling had the same disease. The newborn was born by cesarean delivery. Diarrhea, vomiting, and weight loss started soon after birth. She was diagnosed as having congenital chloride diarrhea based on its typical clinical signs and a high concentration of stool chloride and was confirmed by genetic analysis. She was treated by means of salt supplementations and lansoprazole. Family history may play an important role in the early diagnosis because the disease is inherited autosomal recessively.

The vitamin D status and serum eosinophilic cationic protein levels in infants with cow's milk protein allergy.

Eosinophil cationic protein (ECP) is a cytotoxic protein released from eosinophils. The level of ECP increases in some allergic diseases. Recently, vitamin D deficiency has been suggested to be a risk factor for childhood allergic disease. The first aim of the study is to measure the serum vitamin D levels and ECP in infants with cow's milk protein allergy (CMPA) and compare them with controls. The second aim of this study is to investigate whether vitamin D levels are correlated with ECP or not. Sixty-two infants with CMPA were compared to 58 healthy, similar to distribution of age and sex normal infants as controls. The serum ECP levels were detected by an immunoassay system. Serum 25(OH)D levels were measured by using an enzyme-linked immunoassay kit. Vitamin D deficiency was defined as a serum 25(OH)D level of < 10 ng/mL and sufficient 30 ng/mL. The median serum ECP level in the CMPA group was significantly higher than in the control group (51.45 and 17.55 ng/mL, respectively, P = 0.001). There were no significant differences between groups with regards to median 25(OH)D levels (29.31 ± 1.67 and 27.32 ± 1.41 ng/mL, respectively, P = 0.646). The serum 25(OH)D levels were under 30 ng/mL in 38 of infants with CMPA (61.2%) and in 32 of controls (55.1%). Correlation analysis between the serum 25(OH)D level and ECP of infants with CMPA have revealed no significant relation (P = 0.888). Our results do not support the hypothesis that vitamin D deficiency may be a risk factor for CMPA.

Magnetic resonance enterography in pediatric celiac disease / A enterografia por ressonância magnética na doença celíaca pediátrica

Abstract Objective: To assess if magnetic resonance enterography is capable of showing evidence/extent of disease in pediatric patients with biopsy-proven celiac disease by comparing with a control group, and to correlate the magnetic resonance enterography findings with anti-endomysial antibody level, which is an indicator of gluten-free dietary compliance. Methods: Thirty-one pediatric patients (mean age 11.7 ± 3.1 years) with biopsy-proven celiac disease and 40 pediatric patients as a control group were recruited in the study. The magnetic resonance enterography images of both patients with celiac disease and those of the control group were evaluated by two pediatric radiologists in a blinded manner for the mucosal pattern, presence of wall thickening, luminal distention of the small bowel, and extra-intestinal findings. Patient charts were reviewed to note clinical features and laboratory findings. The histopathologic review of the duodenal biopsies was re-conducted. Results: The mean duration of the disease was 5.6 ± 1.8 years (range: 3-7.2 years). In 24 (77%) of the patients, anti-endomysial antibody levels were elevated (mean 119.2 ± 66.6 RU/mL). Magnetic resonance enterography revealed normal fold pattern in all the patients. Ten (32%) patients had enlarged mesenteric lymph nodes. Conclusion: Although a majority of the patients had elevated anti-endomysial antibody levels indicating poor dietary compliance, magnetic resonance enterography did not show any mucosal abnormality associated with the inability of magnetic resonance enterography to detect mild/early changes of celiac disease in children. Therefore, it may not be useful for the follow-up of pediatric celiac disease.

Resumo Objetivo: Avaliar se a enterografia por ressonância magnética (ERM) consegue comprovar/mostrar a extensão da doença em pacientes pediátricos com doença celíaca (DC) comprovada por biópsia, comparar com um grupo de controle e correlacionar os achados da ERM com o nível de anticorpo antiendomísio (EMA) indicador de dieta sem glúten. Métodos: Foram recrutados 31 pacientes pediátricos (idade média entre 11,7 ± 3,1 anos) com DC comprovada por biópsia e 40 pacientes pediátricos em um grupo de controle. As imagens da ERM dos pacientes com DC e no grupo de controle foram avaliadas por dois radiologistas pediátricos às cegas para o padrão da mucosa, presença de espessamento da parede, dilatação luminal do intestino delgado e achados extraintestinais. Os prontuários dos pacientes foram revisados para anotação de características clínicas e achados laboratoriais. A avaliação histopatológica das biópsias duodenais foi feita novamente. Resultados: A duração média da doença foi 5,6 ± 1,8 anos (faixa de 3-7,2 anos). Em 24 (77%) dos pacientes, os níveis EMA estavam elevados (média 119,2 ± 66,6 RU/mL). A ERM revelou um padrão de pregas normal em todos os pacientes; 10 (32%) dos pacientes apresentaram gânglios linfáticos mesentéricos aumentados. Conclusão: Apesar de a maioria dos pacientes ter níveis elevados de EMA, o que indica uma dieta pobre, a ERM não mostrou anomalia na mucosa associada à incapacidade de a ERM detectar alterações leves/precoces de DC nas crianças. Portanto, ela pode não ser útil no acompanhamento da DC pediátrica.

Psychopathology, quality of life, and related factors in children with celiac disease / Psicopatologia, qualidade de vida e fatores relacionados em crianças com doença celíaca

Abstract Objective: This study aimed to survey children with celiac disease (CD) for psychiatric disorders, determine the possible factors that predict psychopathology, and analyze health-related quality of life and possible factors that could affect the quality of life. Methods: In this study, all children completed the Schedule for Affective Disorders and Schizophrenia for School Age Children - Present and Lifetime Version - Turkish Version (K-SADS-PL-T), as well as the Pediatric Quality of Life Inventory (PedsQL) for the 8-12 age group, and a sentence completion test. A face-to-face interview was performed with the parents of the participants to inform them about the study. Results: This study included 52 children with celiac disease in the age range of 8-12 years, and 40 healthy children. The mean age of the study group was 10.36 ± 0.36 years, and 31 (59%) of them were females. The mean age of the control group was 10.35 ± 0.46 years and 24 (60%) of them were females. The mean subscale scores of the Pediatric Quality of Life Inventory were significantly lower in children with celiac disease when compared to the control group (p < 0.05). There was at least one psychiatric disorder in the 26 (50%) children with celiac disease. Conclusions: This study has shown once more that celiac disease is associated with some psychiatric signs/diagnoses, and that it decreased quality of life. Further studies are needed to determine the factors that could reduce the psychiatric signs. It is apparent that those studies would contribute new approaches to improve diagnosis, treatment, and quality of life.

Resumo Objetivo: Neste estudo, foram avaliadas crianças com doença celíaca (DC) para verificar a existência de transtornos psiquiátricos, determinar os possíveis fatores que predizem psicopatologia e analisar a qualidade de vida relacionada à saúde e possíveis fatores que podem afetá-la. Métodos: Neste estudo, todas as crianças responderam à Entrevista para Transtornos Afetivos e Esquizofrenia em Crianças em Idade Escolar - Versão Presente e ao Longo da Vida - Versão Turca (K-SADS-PL-T), bem como ao Inventário Pediátrico de Qualidade de Vida (PedsQL) da faixa de 8-12 anos e ao teste de completar sentenças. Uma entrevista presencial foi feita com os pais dos participantes para informá-los sobre o estudo. Resultados: Este estudo incluiu 52 crianças com DC entre 8 e 12 anos e 40 crianças saudáveis. A idade média do grupo de estudo era de 10,36 ± 0,36 anos e 31 deles (59%) eram do sexo feminino. A idade média do grupo de controle era de 10,35 ± 0,46 anos e 24 deles (60%) eram do sexo feminino. Os escores médios das subescalas do PedsQL foram significativamente menores em crianças com DC quando comparados com o grupo de controle (p < 0,05). Havia pelo menos um transtorno psiquiátrico em 26 (50%) crianças com DC. Conclusões: Este estudo mostrou mais uma vez que a DC está associada a alguns sintomas/diagnósticos psiquiátricos e reduziu a qualidade de vida. São necessários estudos adicionais para determinar os fatores que podem reduzir os sintomas psiquiátricos. Está claro que esses estudos contribuiriam com novas abordagens para melhorar o diagnóstico, o tratamento e a qualidade de vida.

Magnetic resonance enterography in pediatric celiac disease.

OBJECTIVE: To assess if magnetic resonance enterography is capable of showing evidence/extent of disease in pediatric patients with biopsy-proven celiac disease by comparing with a control group, and to correlate the magnetic resonance enterography findings with anti-endomysial antibody level, which is an indicator of gluten-free dietary compliance. METHODS: Thirty-one pediatric patients (mean age 11.7±3.1 years) with biopsy-proven celiac disease and 40 pediatric patients as a control group were recruited in the study. The magnetic resonance enterography images of both patients with celiac disease and those of the control group were evaluated by two pediatric radiologists in a blinded manner for the mucosal pattern, presence of wall thickening, luminal distention of the small bowel, and extra-intestinal findings. Patient charts were reviewed to note clinical features and laboratory findings. The histopathologic review of the duodenal biopsies was re-conducted. RESULTS: The mean duration of the disease was 5.6±1.8 years (range: 3-7.2 years). In 24 (77%) of the patients, anti-endomysial antibody levels were elevated (mean 119.2±66.6RU/mL). Magnetic resonance enterography revealed normal fold pattern in all the patients. Ten (32%) patients had enlarged mesenteric lymph nodes. CONCLUSION: Although a majority of the patients had elevated anti-endomysial antibody levels indicating poor dietary compliance, magnetic resonance enterography did not show any mucosal abnormality associated with the inability of magnetic resonance enterography to detect mild/early changes of celiac disease in children. Therefore, it may not be useful for the follow-up of pediatric celiac disease.

The eyes of children with celiac disease.

PURPOSE: To determine possible eye involvement in pediatric patients with celiac disease. METHODS: Children (aged 5-18 years) with classic celiac disease and sex- and age-matched controls were included. In addition to a complete ophthalmologic examination, all patients were scanned by a Scheimpflug camera and spectral domain optical coherence tomography, and Schirmer and break-up time (BUT) tests were performed. Data were evaluated by paired t test, with a P value of <0.05 considered statistically significant. RESULTS: A total of 31 celiac patients (19 females [61%]) and 34 controls (20 females [59%]) were included. Mean age of the celiac patients was 11.0 ± 4.4 years (range, 4-18 years); of the controls, 10.4 ± 2.6 years (range, 5-15 years; P = 0.473). Mean follow-up of patients was 5.4 ± 1.7 years (range, 3-7.2 years). The eyes of children with celiac disease, compared to controls, did show decreased anterior chamber depth (3.5 ± 0.2 vs 3.7 ± 0.2, resp.; P < 0.001), decreased anterior chamber volume (170.8 ± 25.5 vs 190.7 ± 27.4; P < 0.001), lower Schirmer (17.9 ± 9.1 vs 21.6 ± 4.1; P = 0.038), and lower BUT (10.8 ± 3.8 vs 12.1 ± 1.7; P = 0.046), as well as lower retinal nerve fiber layer (general 102.8 ± 8.2 vs 108.9 ± 10.1; P < 0.001). CONCLUSIONS: Decreases in retinal nerve fiber, anterior chamber shallowing, and qualitative and quantitative reduction in tears can occur in celiac patients, even if routine ocular examination reveals no abnormality.

Psychopathology, quality of life, and related factors in children with celiac disease.

OBJECTIVE: This study aimed to survey children with celiac disease (CD) for psychiatric disorders, determine the possible factors that predict psychopathology, and analyze health-related quality of life and possible factors that could affect the quality of life. METHODS: In this study, all children completed the Schedule for Affective Disorders and Schizophrenia for School Age Children - Present and Lifetime Version - Turkish Version (K-SADS-PL-T), as well as the Pediatric Quality of Life Inventory (PedsQL) for the 8-12 age group, and a sentence completion test. A face-to-face interview was performed with the parents of the participants to inform them about the study. RESULTS: This study included 52 children with celiac disease in the age range of 8-12 years, and 40 healthy children. The mean age of the study group was 10.36±0.36 years, and 31 (59%) of them were females. The mean age of the control group was 10.35±0.46 years and 24 (60%) of them were females. The mean subscale scores of the Pediatric Quality of Life Inventory were significantly lower in children with celiac disease when compared to the control group (p<0.05). There was at least one psychiatric disorder in the 26 (50%) children with celiac disease. CONCLUSIONS: This study has shown once more that celiac disease is associated with some psychiatric signs/diagnoses, and that it decreased quality of life. Further studies are needed to determine the factors that could reduce the psychiatric signs. It is apparent that those studies would contribute new approaches to improve diagnosis, treatment, and quality of life.

Plasma glutamine and cystine are decreased and negatively correlated with endomysial antibody in children with celiac disease.

BACKGROUND AND OBJECTIVES: Glutamine is a nonessential amino acid which improves intestinal mucosal regeneration and absorption. Glutathione is a vital molecule for antioxidant reactions and is synthesized from cystine. The first aim of the study is to measure the plasma glutamine and cystine in children with celiac disease (CD) and compare them with controls. The second aim of this study is to investigate whether these amino acids are correlated with endomysial antibody (EMA) or not. METHODS AND STUDY DESIGN: Fifty children with CD were compared to 50 healthy, age, and sex matched normal children as control. Plasma glutamine and cystine levels of the children were measured by using tandem mass spectrometry. RESULTS: Plasma glutamine (808 vs 870 µmol/L) and cystine (19 vs 48.5 µmol/L) were significantly lower in the celiac group than the controls (p<0.05). The levels of plasma glutamine (797 vs 928 µmol/L, n=42) and cystine (18 vs 31.5 µmol/L, n=8) were lower (p<0.05) in the EMA-positive than the EMA-negative celiac patients. We could not find any statistically significance between EMA-negative celiac patients and controls for the plasma glutamine (928 vs 870 µmol/L) and cystine (31.5 vs 48.5 µmol/L) (p>0.05). Serum EMA was negatively correlated with plasma cystine (r=-0,321, p=0.023), glutamine (r=-0.413, p=0.003). CONCLUSIONS: Our study indicated that plasma glutamine and cystine were significantly lower in the celiac children than the controls. Also, these amino acids were negatively correlated with EMA.

THE INFLUENCE OF HLA-DQ2 HETERODIMERS ON THE CLINICAL FEATURES AND LABORATORY OF PATIENTS WITH CELIAC DISEASE.

BACKGROUND AND AIM: the essential genetic marker related with celiac disease (CD) is the HLA-DQ2 molecule encoded by the DQA1*0501 and DQB1*0201 genes. The aim of this study is to evaluate effect of these alleles on the clinical, serological and histological features of Turkish children with celiac disease. MATERIAL AND METHODS: we divided 36 celiac patients to 4 groups according to their HLA-DQ2 genotype based on the presence or absence of DQA1*0501 and DQB1*0201 alleles. Group 1: 4 patients had no HLA-DQ2A1*0501 and DQ2B1*0201 alleles, Group 2: 12 patients had at least one of these alleles with heterozygous status, Group 3: 12 patients had both alleles with heterozygous status, Group 4: 8 patients had both alleles with homozygous status. We compared groups according to the clinical, serological, histological, and biochemical features. RESULTS: there was no statistical significance among the groups for age, body mass index (BMI), weight for height, and onset of symptoms. However, both in groups 3 and 4 compared with groups 1 and 2, minor differences were observed for BMI and anti-gliadin antibody (AGA) without statistical significance. According to the anti-endomysial antibody (EMA), Marsh scores, clinical presentations, hematological and biochemical values, there was no statistical significance among groups without constipation that observed higher rate in the 4th group without statistically significance. Hypothyroidism was detected in one patient (25%) in the lowest genetic load group (Group 1) with statistically significance (p < 0.046). CONCLUSION: in this study, small differences found among groups were not elucidated the impact of HLADQ2 A1*0501 and DQ2B1*0201 alleles on the clinical, serological and laboratory manifestations of celiac patients. Further studies are needed to assess the effect of reported HLA alleles and other genetic polymorphisms on CD outcomes in children.

Antecedentes y objetivo: el marcador genético esencial relacionado con la enfermedad celíaca (CD) es la molécula HLA-DQ2 codificada por los genes DQA1*0501 y DQB1*0201. El objetivo de este estudio es evaluar el efecto de estos alelos en las características clínicas, serológicas e histológicas de los niños turcos que tienen la enfermedad celíaca. Material y métodos: nosotros hemos dividido los 36 pacientes celíacos en 4 grupos de acuerdo con su genotipo HLA-DQ2 basado en la presencia o la ausencia de los alelos DQA1*0501 y DQB1*0201. Grupo 1: 4 pacientes que no tenían los alelos HLA-DQ2A1*0501 y DQ2B1*0201; Grupo 2: 12 pacientes que tenían por lo menos uno de estos alelos con un estado heterocigoto; Grupo 3: 12 pacientes que tenián ambos alelos con un estado heterocigoto; Grupo 4: 8 pacientes que tenían ambos alelos con un estado heterocigoto. Nosotros hemos comparado los grupos de acuerdo con las características clínicas, serológicas, histológicas y bioquímicas. Resultados: no había significación estadística entre los grupos por edad, índice de masa corporal, (IMC), peso por altura y aparición de síntomas. Sin embargo, en los grupos 3 y 4 comparados con los grupos 1 y 2 se observaron unas diferencias menores en IMC y anticuerpos antigliadina (AGA), sin una significación estadística. De acuerdo con los antiendomisios (EMA), la puntuación Marsh, las presentaciones clínicas y los valores hematológicos y bioquímicos, no había una significación estadística entre los grupos sin estreñimiento respecto a los valores más altos observados en el grupo 4 sin significación estadística. Se detectó hipertiroidismo en un paciente (25%) del grupo de carga genética más baja (grupo 1) con significación estadística (p < 0,046). El resultado: en este estudio, las pequeñas diferencias que se encontraton entre los grupos no dilucidaron el impacto de los alelos HLA-DQ2 A1*0501 y DQ2B1*0201 en las manifectaciones clínicas, serológicas y de laboratorio de los pacientes celíacos. Se necesitan nuevos estudios para evaluar el efecto de los alelos HLA y otros polimorfismos genéticos en los resultados sobre la enfermedad celíaca en los niños.

The diagnostic value of a globulin/platelet model for evaluating liver fibrosis in chronic hepatitis B patients.

BACKGROUND: Liver biopsy, which is considered the best method for evaluating hepatic fibrosis, has important adverse events. Therefore, non-invasive tests have been developed to determine the degree of hepatic fibrosis in patients with chronic hepatitis B. AIM: To verify the usefulness of a new fibrosis index the globulin/platelet model in patients with chronic hepatitis B and to compare it with other noninvasive tests for predicting significant fibrosis. This study was the second to evaluate the globulin/platelet model in HBV patients. METHODS: We retrospectively investigated 228 patients with chronic hepatitis B who performed liver biopsy from 2013 to 2014. The globulin/platelet model, APGA [AST/Platelet/Gamma-glutamyl transpeptidase/Alfa-fetoprotein], FIB4, fibrosis index, cirrhosis discriminate score, and Fibro-quotient were calculated, and the diagnostic accuracies of all of the fibrosis indices were compared between the F0-2 (no-mild fibrosis) and F3-6 (significant fibrosis) groups. RESULTS: All of the noninvasive markers were significantly correlated with the stage of liver fibrosis (p < 0,001). To predict significant fibrosis (F ≥ 3), the area under the curve (95% CI) was found to be greatest for APGA (0.83 [0.74-0.86]), followed by FIB-4 (0.75[0.69-0.80]), the globulin/platelet model (0.74 [0.68-0.79]), fibrosis index (0.72 [0.6-0.78], cirrhosis discriminate score (0.71 [0.64-0.76]) and Fibro-quotient (0.62 [0.55-0.7]). The area under the receiver operating characteristic curves of APGA was significantly higher than that of the other noninvasive fibrosis markers (p < 0.05). CONCLUSIONS: While the APGA index was found to be the most valuable test for the prediction significant fibrosis in patients with chronic hepatitis B, GP model was the thirth valuable test. Therefore, we recommended that APGA could be used instead of the GP model for prediction liver fibrosis.

The diagnostic value of a globulin/platelet model for evaluating liver fibrosis in chronic hepatitis B patients

BACKGROUND: Liver biopsy, which is considered the best method for evaluating hepatic fibrosis, has important adverse events. Therefore, non-invasive tests have been developed to determine the degree of hepatic fibrosis in patients with chronic hepatitis B. AIM: To verify the usefulness of a new fibrosis index the globulin/platelet model in patients with chronic hepatitis B and to compare it with other noninvasive tests for predicting significant fibrosis. This study was the second to evaluate the globulin/platelet model in HBV patients. METHODS: We retrospectively investigated 228 patients with chronic hepatitis B who performed liver biopsy from 2013 to 2014. The globulin/platelet model, APGA [AST/Platelet/Gammaglutamyl transpeptidase/Alfa-fetoprotein], FIB4, fibrosis index, cirrhosis discriminate score, and Fibro-quotient were calculated, and the diagnostic accuracies of all of the fibrosis indices were compared between the F0-2 (no-mild fibrosis) and F3-6 (significant fibrosis) groups. RESULTS: All of the noninvasive markers were significantly correlated with the stage of liver fibrosis (p < 0,001). To predict significant fibrosis (F ≥ 3), the area under the curve (95% CI) was found to be greatest for APGA (0.83 [0.74-0.86]), followed by FIB-4 (0.75[0.69-0.80]), the globulin/platelet model (0.74 [0.68- 0.79]), fibrosis index (0.72 [0.6-0.78], cirrhosis discriminate score (0.71 [0.64-0.76]) and Fibro-quotient (0.62 [0.55-0.7]). The area under the receiver operating characteristic curves of APGA was significantly higher than that of the other noninvasive fibrosis markers (p < 0.05). CONCLUSIONS: While the APGA index was found to be the most valuable test for the prediction significant fibrosis in patients with chronic hepatitis B, GP model was the thirth valuable test. Therefore, we recommended that APGA could be used instead of the GP model for prediction liver fibrosis

The influence of HLA-DQ2 heterodimers on the clinical features and laboratory of patients with celiac disease / La influencia de los heterodímeros HLA-DQ2 en las características clínicas y de laboratorio de los pacientes con enfermedad celíaca

Background and aim: the essential genetic marker related with celiac disease (CD) is the HLA-DQ2 molecule encoded by the DQA1*0501 and DQB1*0201 genes. The aim of this study is to evaluate effect of these alleles on the clinical, serological and histological features of Turkish children with celiac disease. Material and methods: we divided 36 celiac patients to 4 groups according to their HLA-DQ2 genotype based on the presence or absence of DQA1*0501 and DQB1*0201 alleles. Group 1: 4 patients had no HLA-DQ2A1*0501 and DQ2B1*0201 alleles, Group 2: 12 patients had at least one of these alleles with heterozygous status, Group 3: 12 patients had both alleles with heterozygous status, Group 4: 8 patients had both alleles with homozygous status. We compared groups according to the clinical, serological, histological, and biochemical features. Results: there was no statistical significance among the groups for age, body mass index (BMI), weight for height, and onset of symptoms. However, both in groups 3 and 4 compared with groups 1 and 2, minor differences were observed for BMI and anti-gliadin antibody (AGA) without statistical significance. According to the anti-endomysial antibody (EMA), Marsh scores, clinical presentations, hematological and biochemical values, there was no statistical significance among groups without constipation that observed higher rate in the 4th group without statistically significance. Hypothyroidism was detected in one patient (25%) in the lowest genetic load group (Group 1) with statistically significance (p<0.046). Conclusion: in this study, small differences found among groups were not elucidated the impact of HLADQ2 A1*0501 and DQ2B1*0201 alleles on the clinical, serological and laboratory manifestations of celiac patients. Further studies are needed to assess the effect of reported HLA alleles and other genetic polymorphisms on CD outcomes in children (AU)

Antecedentes y objetivo: el marcador genético esencial relacionado con la enfermedad celíaca (CD) es la molé- cula HLA-DQ2 codificada por los genes DQA1*0501 y DQB1*0201. El objetivo de este estudio es evaluar el efecto de estos alelos en las características clínicas, serológicas e histológicas de los niños turcos que tienen la enfermedad celíaca. Material y métodos: nosotros hemos dividido los 36 pacientes celíacos en 4 grupos de acuerdo con su genotipo HLA-DQ2 basado en la presencia o la ausencia de los alelos DQA1*0501 y DQB1*0201. Grupo 1: 4 pacientes que no tenían los alelos HLA-DQ2A1*0501 y DQ2B1*0201; Grupo 2: 12 pacientes que tenían por lo menos uno de estos alelos con un estado heterocigoto; Grupo 3: 12 pacientes que tenián ambos alelos con un estado heterocigoto; Grupo 4: 8 pacientes que tenían ambos alelos con un estado heterocigoto. Nosotros hemos comparado los grupos de acuerdo con las características clínicas, serológicas, histológicas y bioquímicas. Resultados: no había significación estadística entre los grupos por edad, índice de masa corporal, (IMC), peso por altura y aparición de síntomas. Sin embargo, en los grupos 3 y 4 comparados con los grupos 1 y 2 se observaron unas diferencias menores en IMC y anticuerpos antigliadina (AGA), sin una significación estadística. De acuerdo con los antiendomisios (EMA), la puntuación Marsh, las presentaciones clínicas y los valores hematológicos y bioquímicos, no había una significación estadística entre los grupos sin estreñimiento respecto a los valores más altos observados en el grupo 4 sin significación estadística. Se detectó hipertiroidismo en un paciente (25%) del grupo de carga genética más baja (grupo 1) con significación estadística (p<0,046). El resultado: en este estudio, las pequeñas diferencias que se encontraton entre los grupos no dilucidaron el impacto de los alelos HLA-DQ2 A1*0501 y DQ2B1*0201 en las manifectaciones clínicas, serológicas y de laboratorio de los pacientes celíacos. Se necesitan nuevos estudios para evaluar el efecto de los alelos HLA y otros polimorfismos genéticos en los resultados sobre la enfermedad celíaca en los niños (AU)

Contribution of KIR genes, HLA class I ligands, and KIR/HLA class I ligand combinations on the genetic predisposition to celiac disease and coexisting celiac disease and type 1 diabetes mellitus.

BACKGOUND AND AIM: There are some common genetic features between celiac disease (CD) and diabetes mellitus type 1 (DM). However, the genetic risk factors have not been fully clarified for CD and the co-occurrence of CD and DM. KIR (killer immunoglobulin-like receptor) genes regulate the cytolitic activity of NK-cells and T lymphocytes. The aim of this study is to evaluate the contribution of KIR genes, KIR ligands, and combinations of KIR/ KIR ligands on the genetic predisposition to CD and co-occurrence of CD and DM. MATERIAL AND METHODS: Forty six patients with CD (n = 46), 20 patients with CD+DM (n = 20), and 60 healthy controls (n = 60) were included in this study. KIR genes and KIR ligands were investigated with PCR-SSOP and PCR-SSP in all subjects, respectively. RESULTS: This study showed that while the telomeric KIR genes (2DS5 and 3DS1), and combinations of 3DS1+HLA-BBw4-Thrand 3DS1+HLA-BBw4-Iso- (p < 0.001, p < 0.001, p < 0.001, and p < 0.001, respectively) were observed more frequently in patients with CD than in controls, the 2DS5, 3DS1 KIR genes, C1 ligand, and combinations of 3DS1+HLA-BBw4-Thr- and 3DS1+HLA-BBw4-Iso- (p = 0.002, p = 0.004, p = 0.036, p < 0.001, and p = 0.007, respectively) were observed more frequently in patients with CD+DM than in controls. CONCLUSIONS: The results of this study indicated that some KIR genes, KIR ligands, and KIR/KIR ligand interactions may be responsible for a predisposition to CD and the coexistence of CD and DM. For development of coexisting CD and DM, the 2DS5 and 3DS1 genes, C1 ligand, and combinations of 3DS1+HLA-BBw4-Thr- and 3DS1+HLA-BBw4-Iso- were found to be risk factors.

Contribution of KIR (killer immunoglobulin-like receptor) genes, HLA class I ligands, and KIR/HLA class I ligand combinations on the genetic predisposition to celiac disease and coexisting celiac disease and type 1 diabetes mellitus

BACKGROUND AND AIM: There are some common genetic features between celiac disease (CD) and diabetes mellitus type 1 (DM). However, the genetic risk factors have not been fully clarified for CD and the co-occurrence of CD and DM. KIR (killer immunoglobulin-like receptor) genes regulate the cytolitic activity of NK-cells and T lymphocytes. The aim of this study is to evaluate the contribution of KIR genes, KIR ligands, and combinations of KIR/ KIR ligands on the genetic predisposition to CD and co-occurrence of CD and DM. MATERIAL AND METHODS: Forty six patients with CD (n = 46), 20 patients with CD+DM (n = 20), and 60 healthy controls (n = 60) were included in this study. KIR genes and KIR ligands were investigated with PCR-SSOP and PCR-SSP in all subjects, respectively. RESULTS: This study showed that while the telomeric KIR genes (2DS5 and 3DS1), and combinations of 3DS1+HLA-BBw4-Thrand 3DS1+HLA-BBw4-Iso- (p < 0.001, p < 0.001, p < 0.001, and p < 0.001, respectively) were observed more frequently in patients with CD than in controls, the 2DS5, 3DS1 KIR genes, C1 ligand, and combinations of 3DS1+HLA-BBw4-Thr- and 3DS1+HLA-BBw4-Iso- (p = 0.002, p = 0.004, p = 0.036, p < 0.001, and p = 0.007, respectively) were observed more frequently in patients with CD+DM than in controls. CONCLUSIONS: The results of this study indicated that some KIR genes, KIR ligands, and KIR/KIR ligand interactions may be responsible for a predisposition to CD and the coexistence of CD and DM. For development of coexisting CD and DM, the 2DS5 and 3DS1 genes, C1 ligand, and combinations of 3DS1+HLA-BBw4- Thr- and 3DS1+HLA-BBw4-Iso- were found to be risk factors

No disponible

AMINO ACID LEVELS IN CHILDREN WITH CELIAC DISEASE.

BACKGROUND & AIM: plasma amino acid levels may show differences in regard to physiological changes, diet and diseases. The aim of the study is to measure the amino acid levels in children with celiac disease and compare them with the controls. MATERIAL AND METHODS: sixty-two children with classic celiac disease and 62 age and sex matched healthy control were enrolled in this study. Plasma amino acid levels of the children were measured by using tandem mass spectrometry. RESULTS: celiac children had significant lower plasma levels of citrülline, glutamine and cystine than control (p.

Antecedentes y objetivo: los niveles de aminoácidos en plasma pueden mostrar diferencias en lo que se refiere a los cambios fisiológicos, la dieta y las enfermedades. El objetivo del estudio es medir los niveles de aminoácidos en los niños con enfermedad celíaca y compararlos con los controles. Material y métodos: en este estudio se inscribieron 62 niños con enfermedad celíaca clásica emparejados por edad y sexo con 62 controles sanos. Los niveles de aminoácidos en plasma de los niños se midieron utilizando la espectrometría de masas. Resultados: los niños celíacos tenían niveles significativamente inferiores plasmáticos de citrulina, glutamina y cistina que el grupo control (p < 0,05). Alanina, asparagina, ácido glutámico, hidroxiprolina, isoleucina, leucina, fenilalanina, prolina, serina, treonina y valina fueron significativamente mayores en los niños celíacos que en los controles (p < 0,05). Por otro lado, no hubo ninguna diferencia significativa en los niveles de arginina, argininosuccinato, ácido aspártico, glicina, homocisteína, lisina, hidroxilisina, metionina, ornitina, triptófano, tirosina, histidina entre los niños celíacos y los controles sanos (p > 0,05). Conclusiones: este estudio mostró que los niveles de aminoácidos en plasma pueden ser variables en la enfermedad celíaca. Se necesitan estudios con un tamaño mayor para conocer si los ensayos de aminoácidos en plasma ayudan a reflejar la lesión de la mucosa intestinal y para el seguimiento de la compatibilidad de la dieta libre de gluten en los pacientes celíacos.