The frequency of Duchenne muscular dystrophy/Becker muscular dystrophy and Pompe disease in children with isolated transaminase elevation: results from the observational VICTORIA study.

Introduction: Elevated transaminases and/or creatine phosphokinase can indicate underlying muscle disease. Therefore, this study aims to determine the frequency of Duchenne muscular dystrophy/Becker muscular dystrophy (DMD/BMD) in male children and Pompe disease (PD) in male and female children with isolated hypertransaminasemia. Methods: This multi-center, prospective study enrolled patients aged 3-216 months with serum alanine transaminase (ALT) and/or aspartate transaminase (AST) levels >2× the upper limit of normal (ULN) for ≥3 months. Patients with a known history of liver or muscle disease or physical examination findings suggestive of liver disease were excluded. Patients were screened for creatinine phosphokinase (CPK) levels, and molecular genetic tests for DMD/BMD in male patients and enzyme analysis for PD in male and female patients with elevated CPK levels were performed. Genetic analyses confirmed PD. Demographic, clinical, and laboratory characteristics of the patients were analyzed. Results: Overall, 589 patients [66.8% male, mean age of 63.4 months (standard deviation: 60.5)] were included. In total, 251 patients (188 male and 63 female) had CPK levels above the ULN. Of the patients assessed, 47% (85/182) of male patients were diagnosed with DMD/BMD and 1% (3/228) of male and female patients were diagnosed with PD. The median ALT, AST, and CPK levels were statistically significantly higher, and the questioned neurological symptoms and previously unnoticed examination findings were more common in DMD/BMD patients than those without DMD/BMD or PD (p < 0.001). Discussion: Questioning neurological symptoms, conducting a complete physical examination, and testing for CPK levels in patients with isolated hypertransaminasemia will prevent costly and time-consuming investigations for liver diseases and will lead to the diagnosis of occult neuromuscular diseases. Trial Registration: Clinicaltrials.gov NCT04120168.

Impact of adherence to gluten-free diet in paediatric celiac patients on optical coherence tomography findings: Ocular imaging based study.

OBJECTIVE: This study aims to measure choroidal thickness, retinal nerve fiber layer thickness, GCC thickness, and foveal thickness by optical coherence tomography and to investigate whether there is a difference between celiac patients who adhere to the gluten-free diet and who do not. MATERIALS AND METHODS: A total of 68 eyes of 34 pediatric patients diagnosed with celiac disease were included in the study. Celiac patients were divided into two groups those who adhere to the gluten-free diet and those who do not. Fourteen patients who adhere to the gluten-free diet and 20 patients who do not adhere to the gluten-free diet were included in the study. Choroidal thickness, GCC, RNFL, and foveal thickness of all subjects were measured and recorded using an optical coherence tomography device. RESULTS: The mean choroidal thickness of the dieting and non-diet groups was 249.05 ± 25.60 and 244.18 ± 33.50 µm, respectively. The mean GCC thickness of the dieting and non-diet groups was 96.56 ± 6.26 and 93.83 ± 5.62 µm, respectively. The mean RNFL thickness of the dieting and non-diet groups was 108.83 ± 9.97 and 103.20 ± 9.74 µm, respectively. The mean foveal thickness of the dieting and non-diet groups was 259.25 ± 33.60 and 261.92 ± 32.94 µm, respectively. There was not a statistically significant difference between the dieting group and the non-diet group in terms of choroidal, GCC, RNFL and foveal thicknesses (p = 0.635, p = 0.207, p = 0.117, p = 0.820, respectively). CONCLUSION: In conclusion, the present study states that adhering to a gluten-free diet does not make any difference in choroidal, GCC, RNFL, and foveal thicknesses in pediatric celiac patients.

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).

Frequency of celiac disease and distribution of HLA-DQ2/DQ8 haplotypes among siblings of children with celiac disease.

BACKGROUND: Celiac disease (CD) is a multifactorial disease, but genetic factors play a major role in its etiology. It has been known that human leucocyte antigen (HLA)-DQ2/DQ8 haplotypes are one of the most important predisposing genetic factors. The risk of developing CD in first-degree relatives and especially siblings of celiac patients is quite high because of having the same HLA haplotypes. AIM: To evaluate the frequency of CD and the distribution of the HLA-DQ2/DQ8 haplotypes in siblings of celiac patients. METHODS: Patients with biopsy-proven CD and their siblings were included in the study; those who did not have HLA genotyping were excluded from the study. All siblings were on a gluten-containing diet. The HLA genotyping, tissue transglutaminase antibody IgA antibody test, and total IgA test were performed in all participants. RESULTS: A total of 57 celiac patients and their 112 siblings were included in the study. The mean age of celiac patients and siblings were 10.30 ± 3.87 years and 9.90 ± 6.11 years, respectively. HLA-DQ2/DQ8 alleles were detected in 98.2% of patients with CD and 90.2% of siblings of celiac patients. HLA-DQ genotypes were present in all siblings diagnosed with CD. Tissue transglutaminase antibody IgA test was found to be positive in 16 siblings. CD was diagnosed in 12 siblings (10.7%) by intestinal biopsy. CONCLUSION: The prevalence of CD was found to be 10.7% in siblings of celiac patients in our study. One-third of the siblings diagnosed with CD were asymptomatic. We detected HLA-DQ alleles in 98.2% of celiac patients and 100% in siblings diagnosed with CD. In addition, 1 of the 2 siblings was diagnosed with CD 1 year later and the other 4 years later. Therefore, we suggest that siblings of celiac patients should be followed up with clinical findings as well as HLA analysis and serological examination. Since the risk of developing CD is much higher in asymptomatic siblings, we recommend that siblings should be screened for CD even if they are asymptomatic.

Quality of Life Among Patients with Early-Onset Scoliosis Treated with Magnetically Controlled Growing Rods-Early-Term Results.

BACKGROUND: The term "early-onset scoliosis" (EOS) refers to spinal deformities that develop before the age of 10 years. The aim of surgical treatment for EOS is stopping the progression of the curvature, maintaining the correction, ensuring the maximum growth of the vertebrae, and ensuring that the vertebrae remain mobile. Using magnetically controlled growing rods (MCGRs) in the treatment of EOS is intended to protect the patient from the negative effects of repetitive surgeries, increase patient compliance and satisfaction, and increase the speed of return to normal social life. Our aim was to report the early radiological evaluation findings and detect the changes in the quality of life of patients and their parents after the diagnosis of EOS and treatment with MCGRs. METHODS: We performed a retrospective clinical study (level 4 case series) of 20 patients with a surgical indication for the treatment of EOS. The 20 patients had undergone treatment with MCGRs and lengthening procedures at 3-month intervals from August 2014 to August 2016. The mean patient age at surgery was 7.9 years (range, 4-10 years), and the mean length of follow-up was 14.9 months (range, 6-30 months). The preoperative, early postoperative, and final follow-up radiographs of all patients were obtained. The Cobb angle, thoracic kyphosis, spinal height, thoracic height, sagittal balance, coronal balance, shoulder balance, and pelvic balance were measured from the radiographs. All the patients had undergone preoperative and final follow-up respiratory function tests, and all the patients completed the Early Onset Scoliosis 24-item questionnaire (EOSQ-24). The outcome measures were the Cobb angle, thoracic kyphosis, spinal height, thoracic height, sagittal balance, coronal balance, shoulder balance, and pelvic balance. All the patients had undergone preoperative and final follow-up respiratory function tests, and the parents of every patient completed the Turkish version of the EOSQ-24. RESULTS: The preoperative, early postoperative and final follow-up mean Cobb angles were 56.6° (range, 38°-93°), 30.5° (range, 13°-80°), and 33.5° (range, 14°-86°), respectively. These findings showed statistically significant improvement in the Cobb angle (P < 0.05). The thoracic height was also significantly increased. The preoperative, early postoperative, and final follow-up mean height was 181 mm (range, 123-224 mm), 200 mm (range, 164-245 mm), and 212 mm (range, 167-248 mm), respectively (P < 0.05). The measurements for spinal height had also increased significantly, with preoperative, early postoperative, and final follow-up values of 219 mm (range, 213-366 mm), 315 mm (range, 260-402 mm), and 338 mm (range, 261-406 mm), respectively (P < 0.05). The thoracic kyphosis measurement was 41° (range, 5°-65°) preoperatively, which had decreased significantly to 32.5° (range, 0°-53°) at the final follow-up (P < 0.05). Our measurements showed no statistically significant differences in the coronal and sagittal balance, pelvic balance, or shoulder balance. No significant differences were found between the preoperative and postoperative respiratory function test results. The assessment of the EOSQ-24 scores had demonstrated significant improvements in the mean scores at the final follow-up (P < 0.05). When different categories in the EOSQ-24 were evaluated separately, no statistically significant differences were found between the preoperative and final follow-up scores for general health, pain and discomfort, respiratory function, movement capability, physical function, or effects on daily life (P > 0.05). However, the exhaustion and energy levels, emotional state, effect of the disease on the parents and patient, and parent satisfaction scores had increased significantly from the preoperative assessment to the final follow-up (P < 0.05). The financial effect had decreased significantly at the final follow-up compared with the preoperative values (P < 0.05). Four patients had developed complications requiring further treatment, and none of the patients had developed infection that required surgical intervention. CONCLUSIONS: Our study showed that insertion of a MCGR is a safe procedure for treatment of EOS to correct the deformity and improve function in daily life. This method reduces the need for repetitive surgery and the likelihood of complications associated with other treatments. Thus, treatment with MCGRs increases patient satisfaction and facilitates patient compliance.

Celiac disease in children: A review of the literature.

Celiac disease is an immune-mediated systemic disease triggered by intake of gluten in genetically susceptible individuals. The prevalence of celiac disease in the general population is estimated to be 1% in the world. Its prevalence differs depending on geographical and ethnic variations. The prevalence of celiac disease has increased significantly in the last 30 years due to the increased knowledge and awareness of physicians and the widespread use of highly sensitive and specific diagnostic tests for celiac disease. Despite increased awareness and knowledge about celiac disease, up to 95% of celiac patients still remain undiagnosed. The presentations of celiac disease have significantly changed in the last few decades. Classical symptoms of celiac disease occur in a minority of celiac patients, while older children have either minimal or atypical symptoms. Serologic tests for celiac disease should be done in patients with unexplained chronic or intermittent diarrhea, failure to thrive, weight loss, delayed puberty, short stature, amenorrhea, iron deficiency anemia, nausea, vomiting, chronic abdominal pain, abdominal distension, chronic constipation, recurrent aphthous stomatitis, and abnormal liver enzyme elevation, and in children who belong to specific groups at risk. Early diagnosis of celiac disease is very important to prevent long-term complications. Currently, the only effective treatment is a lifelong gluten-free diet. In this review, we will discuss the epidemiology, clinical findings, diagnostic tests, and treatment of celiac disease in the light of the latest literature.

Relación entre la gravedad de la infección por Helicobacter pylori y el índice de neutrófilos/linfocitos y el volumen plaquetario medio en niños / Relationship between the severity of Helicobacter pyloriinfection and neutrophil and lymphocyte ratio and mean platelet volume in children

Introducción: El Helicobacter pylori (HP) causa inflamación local en el estómago y una respuesta inmunitaria humoral sistémica. En los estudios que investigaron la asociación entre la infección por HP y el índice de neutrófilos/linfocitos (INL) y el volumen plaquetario medio (VPM) en adultos, no se observó ninguna relación. Hasta donde sabemos, no se hicieron estudios en niños. Nuestro objetivo fue evaluar la asociación entre los valores de INL y VPM y la infección por HP, la clasificación de la gravedad y el estado antes y después del tratamiento.Población y métodos: En el estudio se incluyeron pacientes de 2 a 18 años de edad con dispepsia y sin enfermedades crónicas sometidos a una endoscopía alta. Se hizo una biopsia endoscópica de la mucosa y se determinaron la presencia de HP y la gravedad de la infección según la clasificación de Sídney.Resultados: Se incluyeron en el estudio 153 pacientes con HP y 211 sin HP; la media de edad fue de 13,3 ± 3,4 años y 13,1 ± 3,5 años, respectivamente. No se observaron diferencias estadísticamente significativas entre los pacientes con y sin HP ni tampoco entre los subgrupos de pacientes con HP según la gravedad en relación con el INL y el VPM (p > 0,05).Conclusiones: No se observó una asociación entre los valores de INL y VPM y la infección por HP, la clasificación de la gravedad ni el estado antes y después del tratamiento.

Introduction: HP causes local inflammation in the stomach and a systemic humoral immune response. No relationship was found in adult studies investigating the association between HP infection and neutrophil/lymphocyte ratio (NLR) and mean platelet volume (MPV). To our knowledge, there is no study in children. We aimed to evaluate the association between NLR and MPV values with HP infection, severity classification, and pre- and post-treatment status.Population and Methods: Patients with dyspepsia aged between 2-18 years and without any chronic diseases undergoing gastroduodenoscopy were included in the study. Endoscopic mucosal biopsy was performed, HP presence and infection severity were determined according to Sydney Classification.Results: 153 patients with HP positivity and 211 patients with HP negativity were included in the study, the mean age of them was 13.3 ± 3.4 years and 13.1 ± 3.5 years, respectively. No statistically significant difference was found between patients with HP positive and negative patients and also between severity subgroups of HP positive patients in terms of NLR and MPV (p > 0.05).Conclusions:There was no association between NLR and MPV values with HP infection, severity classification, or pre- and post-treatment status.

Relationship between the severity of Helicobacter pylori infection and neutrophil and lymphocyte ratio and mean platelet volume in children. / Relación entre la gravedad de la infección por Helicobacter pylori y el índice de neutrófilos/linfocitos y el volumen plaquetario medio en niños.

INTRODUCTION: HP causes local inflammation in the stomach and a systemic humoral immune response. No relationship was found in adult studies investigating the association between HP infection and neutrophil/lymphocyte ratio (NLR) and mean platelet volume (MPV). To our knowledge, there is no study in children. We aimed to evaluate the association between NLR and MPV values with HP infection, severity classification, and pre- and post-treatment status. POPULATION AND METHODS: Patients with dyspepsia aged between 2-18 years and without any chronic diseases undergoing gastroduodenoscopy were included in the study. Endoscopic mucosal biopsy was performed, HP presence and infection severity were determined according to Sydney Classification. RESULTS: 153 patients with HP positivity and 211 patients with HP negativity were included in the study, the mean age of them was 13.3 ± 3.4 years and 13.1 ± 3.5 years, respectively. No statistically significant difference was found between patients with HP positive and negative patients and also between severity subgroups of HP positive patients in terms of NLR and MPV (p > 0.05). CONCLUSIONS: There was no association between NLR and MPV values with HP infection, severity classification, or pre- and post-treatment status.

Introducción: El Helicobacter pylori (HP) causa inflamación local en el estómago y una respuesta inmunitaria humoral sistémica. En los estudios que investigaron la asociación entre la infección por HP y el índice de neutrófilos/linfocitos (INL) y el volumen plaquetario medio (VPM) en adultos, no se observó ninguna relación. Hasta donde sabemos, no se hicieron estudios en niños. Nuestro objetivo fue evaluar la asociación entre los valores de INL y VPM y la infección por HP, la clasificación de la gravedad y el estado antes y después del tratamiento. Población y métodos: En el estudio se incluyeron pacientes de 2 a 18 años de edad con dispepsia y sin enfermedades crónicas sometidos a una endoscopía alta. Se hizo una biopsia endoscópica de la mucosa y se determinaron la presencia de HP y la gravedad de la infección según la clasificación de Sídney. Resultados: Se incluyeron en el estudio 153 pacientes con HP y 211 sin HP; la media de edad fue de 13,3 ± 3,4 años y 13,1 ± 3,5 años, respectivamente. No se observaron diferencias estadísticamente significativas entre los pacientes con y sin HP ni tampoco entre los subgrupos de pacientes con HP según la gravedad en relación con el INL y el VPM (p > 0,05). Conclusiones: No se observó una asociación entre los valores de INL y VPM y la infección por HP, la clasificación de la gravedad ni el estado antes y después del tratamiento.

Serological screening for coeliac disease in patients with juvenile idiopathic arthritis.

BACKGROUND AND STUDY AIMS: Juvenile idiopathic arthritis (JIA) is characterized by autoimmune aetiology. A gene locus 4q27 related to rheumatoid arthritis, psoriatic arthritis, and coeliac disease is associated with susceptibility to JIA. There are reports indicating several patients with JIA had been diagnosed with CD. We aimed to assess the frequency of coeliac disease (CD) in patients with juvenile idiopathic arthritis (JIA). PATIENTS AND METHODS: This prospective study was carried out from October 2015 to August 2016 and included 96 patients with JIA. All patients were evaluated in terms of clinical and laboratory findings of CD. Levels of total IgA and tissue transglutaminase antibody (tTG) IgA were measured in all patients. Those with increased level of tTG IgA were further tested for anti-endomysium IgA antibodies (EMA). Gastroduodenoscopy were planned for a definite diagnosis of CD in patients with positive EMA. RESULTS: Of the 96 patients in our study, 34 (35.4%) had oligoarticular form of JIA, 29 (30.2%) had polyarticular form, 12 (12.5%) had ERA form, 11 (11.5%) had systemic form, and 10 (10.4%) had psoriatic form. Sixteen of our patients (16.6%) were not using any drugs during the study. Neither EMA IgA antibodies were analysed nor gastro-duodenoscopy was performed because no patients were positive for tTG IgA. There was no difference in terms of tTG levels between the patients using NSAIDs or other drugs. CONCLUSION: We did not find CD in children with JIA. Long term studies with more JIA patients are needed to provide more precise interpretation.

Serological screening for celiac disease in children with systemic lupus erythematosus.

OBJECTIVE: The aim of the present study was to investigate the frequency of celiac disease (CD) in patients with juvenile systemic lupus erythematosus (JSLE) and the potential association of JSLE and CD. METHODS: This was a cross-sectional study performed from October 2015 to October 2017. A total of 50 patients with JSLE were included in the study. The levels of total IgA and tissue transglutaminase (tTG) IgA antibody were measured in all patients. Subjects with increased tTG were further evaluated for anti-endomysial antibodies (EMAs). Gastroduodenoscopy and intestinal biopsy were performed in those with increased EMA levels to confirm the diagnosis of CD. RESULTS: The study included 44 (88.0%) female and 6 (12.0%) male patients. Of the 50 patients, 30 (60.0%) received corticosteroids, and only 4 (8.0%) received no therapy at the time of the study. Only 3 (6.0%) patients were positive for tTG IgA. Patients with positive tTG IgA were then tested for EMA IgA antibodies, and none of them had a positive result. CONCLUSION: We did not find CD in children with systemic lupus erythematosus. Studies with more patients with JSLE are needed to conclude a more precise result.

SEROLOGICAL SCREENING FOR CELIAC DISEASE IN CHILDREN WITH COLCHICINE-RESISTANT FAMILIAL MEDITERRANEAN FEVER.

BACKGROUND: Familial Mediterranean fever and celiac disease share some common clinical features such as abdominal pain, diarrhea, arthralgia and arthritis. Also, both of the diseases are associated with many inflammatory and autoimmune diseases. Previous studies have shown the association between familial Mediterranean fever (FMF) and different clinical conditions. OBJECTIVE: We aimed to investigate the relationship between celiac disease and colchicine-resistant familial Mediterranean fever (crFMF) disease. METHODS: This prospective study was conducted at the Department of Pediatric Gastroenterology and Pediatric Rheumatology from October 2015 to August 2016. A total of 24 patients with crFMF were included in the study. We used 60 sex- and age-matched healthy subjects as a control group. Levels of total IgA and tissue transglutaminase (tTG) IgA antibody were measured in both groups. Those with increased level of tTG IgA were tested for anti-endomysium IgA antibodies (EMA). Gastroduodenoscopy and intestinal biopsy were planned for a definite diagnosis of celiac disease in patients with positive EMA. RESULTS: Of the 24 patients in this study, 18 (75.0%) were female. Only 4 (16.6%) of 24 patients were positive for tTG IgA. Patients with positive tTG IgA were then tested for EMA IgA antibodies and none of them had a positive result. Only one (1.6%) subject from the control group was positive for tTG IgA but EMA positivity was not detected. CONCLUSION: We did not found celiac disease in 24 children with crFMF. Since crFMF disease is rarely seen in general population, further studies with more patients are needed to provide more precise interpretation.

Triagem sorológica para doença celíaca em crianças com febre familiar do mediterrâneo colchicina-resistente / Serological screening for celiac disease in children with colchicine-resistant familial mediterranean fever

ABSTRACT BACKGROUND: Familial Mediterranean fever and celiac disease share some common clinical features such as abdominal pain, diarrhea, arthralgia and arthritis. Also, both of the diseases are associated with many inflammatory and autoimmune diseases. Previous studies have shown the association between familial Mediterranean fever (FMF) and different clinical conditions. OBJECTIVE: We aimed to investigate the relationship between celiac disease and colchicine-resistant familial Mediterranean fever (crFMF) disease. METHODS: This prospective study was conducted at the Department of Pediatric Gastroenterology and Pediatric Rheumatology from October 2015 to August 2016. A total of 24 patients with crFMF were included in the study. We used 60 sex- and age-matched healthy subjects as a control group. Levels of total IgA and tissue transglutaminase (tTG) IgA antibody were measured in both groups. Those with increased level of tTG IgA were tested for anti-endomysium IgA antibodies (EMA). Gastroduodenoscopy and intestinal biopsy were planned for a definite diagnosis of celiac disease in patients with positive EMA. RESULTS: Of the 24 patients in this study, 18 (75.0%) were female. Only 4 (16.6%) of 24 patients were positive for tTG IgA. Patients with positive tTG IgA were then tested for EMA IgA antibodies and none of them had a positive result. Only one (1.6%) subject from the control group was positive for tTG IgA but EMA positivity was not detected. CONCLUSION: We did not found celiac disease in 24 children with crFMF. Since crFMF disease is rarely seen in general population, further studies with more patients are needed to provide more precise interpretation.

RESUMO CONTEXTO: A febre familiar do Mediterrâneo e a doença celíaca compartilham algumas características clínicas comuns, tais como dor abdominal, diarreia, artralgia e artrite. Além disso, ambas as doenças são associadas a muitas doenças auto-imunes e inflamatórias. Estudos anteriores mostraram associação entre febre familiar do Mediterrâneo e diferentes condições clínicas. OBJETIVO: Investigar a relação entre doença celíaca e doença de febre familiar do Mediterrâneo colchicina-resistente (FMFcr). MÉTODOS: Foi realizado um estudo prospectivo no departamento de Gastroenterologia pediátrica e Reumatologia pediátrica de outubro de 2015 até agosto de 2016. Um total de 24 pacientes com FMFcr foram incluídos. Sessenta indivíduos saudáveis combinados por sexo e idade foram utilizados como um grupo de controle. Os níveis de IgA total e transglutaminase tissular (tTG) anticorpo IgA foram medidos em ambos os grupos. Aqueles com maior nível de tTG IgA foram testados para anticorpos de IgA antiendomísio (EMA). Gastroduodenoscopia e biópsia intestinal foram planejadas para um diagnóstico definitivo da doença celíaca em pacientes com EMA positivo. RESULTADOS: Dos 24 pacientes neste estudo, 18 (75,0%) eram do sexo feminino. Somente 4 (16,6%) de 24 pacientes foram positivos para tTG IgA. Pacientes com tTG IgA positivo então foram testados para anticorpos IgA de EMA, e nenhum deles teve um resultado positivo. Somente um (1,6%) indivíduo do grupo controle foi positivo para tTG IgA, mas a positividade EMA não foi detectada. CONCLUSÃO: Não encontramos a doença celíaca em 24 crianças com FMFcr. Desde que a doença FMFcr é raramente vista na população em geral, estudos com mais pacientes são necessários para fornecer interpretação mais precisa.

The frequency of the celiac disease among children with familial Mediterranean fever.

We aimed to assess the frequency of celiac disease (CD) in patients with Familial Mediterranean Fever (FMF). This prospective study was carried out from October 2015 to March 2016 and included 303 patients with FMF. We used 98 sex- and age-matched healthy subjects as a control group. Levels of total IgA and tissue transglutaminase (tTG) IgA antibody were measured in all groups. Those with increased level of tTG IgA were tested for anti-endomysium IgA antibodies (EMA). Patients with positive EMA underwent gastro-duodenoscopy and intestinal biopsy for a definite diagnosis of CD. Only 9 of 303 patients (2.9%) were positive for tTG IgA. Patients positive for tTG IgA were then tested for EMA and only one of them (0.3%) had a positive result. This patient underwent gastro-duodenoscopy. The pathological report was compatible with Marsh 0 classification score for the diagnosis of CD. Two subjects from the control group were positive for tTG IgA but none of them had positive EMA antibodies. We did not find CD in the large cohort of childhood FMF patients. The prevalence of CD did not show association with presence of childhood FMF in this study and CD would not be a considerable complication of childhood FMF.

A rare cause of vomiting: annular pancreas.

Annular pancreas is a rare congenital anomaly that consists of a ring of pancreatic tissue partially or completely encircling the second part of the duodenum. It can affect anyone from neonates to adults, and is difficult to diagnose because it can present in a wide range of clinical conditions. Although cases have also been reported in adults, symptomatic cases are often referred in infancy or early childhood. A 17-year-old female patient who was diagnosed as having annular pancreas is reported. The patient had had non-bilious vomiting accompanied by abdominal pain, especially 5-10 minutes after meals, for seven years. Annular pancreas, which may be seen at any age, should be considered in the differential diagnosis of patients with non-bilious vomiting, particularly after meals, over a long period.

DEPRESSION AND ANXIETY IN PARENTS OF CHILDREN WHO ARE CANDIDATES FOR LIVER TRANSPLANTATION.

BACKGROUND: The primary stress factor for families in the pre-transplant period is reported as the waiting time for suitable organs, leading to anxiety, despair, and distress. OBJECTIVE: We investigated the psychosocial factors, anxiety and depression, in the parents of children who are candidates for liver transplantation. METHODS: Thirty-five pediatric liver transplantation candidates and their 38 parents, from February to August 2014, were included. Participants were evaluated using the Hamilton Depression Rating Scale (HAM-D), Hamilton Anxiety Rating Scale (HAM-A), and Clinical Global Impression Scale (CGI). RESULTS: We found that a significant number of parents (n=25, 65.7%) were diagnosed with clinical psychiatric disease: 18.4% (n=7) with depression and 47.3% (n=18) with anxiety disorders. There was a significant difference in the examination scores of parents between genders (P <0.05). There was also a significant difference in CGI and HAM-D scores of parents relative to the history and presence of liver disease (P <0.05). CONCLUSION: The rate of these disorders was high in relation to the prevalence of depression and anxiety disorders in the community reported in the literature. Therefore, it is necessary to evaluate psychosocial factors of parents of all transplant candidate children as a part of routine care so that the high-risk to family members and to enable early intervention.

PREVALENCE OF MALNUTRITION IN CHILDREN WITH CHRONIC HEPATITIS B INFECTION.

BACKGROUND: There have been limited studies investigating the impact of chronic hepatitis B virus infection on the growth of children. OBJECTIVE: Our objective was to investigate the prevalence of malnutrition in children with chronic hepatitis B infection. METHODS: The nutritional status of patients was retrospectively evaluated in the outpatient Clinic of Pediatric Gastroenterology between February and November 2014. During the study, biochemical laboratory parameters, duration of disease, liver biopsy scores, and medication were evaluated. Additionally body mass index and body mass index centiles were calculated. RESULTS: Of the 96 patients in this study, 68 were male and 28 were female, and the mean age was 144.7±43.9 months and 146.1±47.3 months, respectively. According to body mass index centiles five (5.2%) patients were underweight, seven (7.3%) patients were overweight, and seven (7.3%) patients were obese. CONCLUSIONS: Moderate rates of malnutrition (including obesity) were found in chronic hepatitis B infection. Additional nutritional status information of healthy and sick children should be assessed in the infection's early period, and timely interventions should be initiated.

Prevalence of malnutrition in children with chronic hepatitis b infection

ABSTRACT Background - There have been limited studies investigating the impact of chronic hepatitis B virus infection on the growth of children. Objective - Our objective was to investigate the prevalence of malnutrition in children with chronic hepatitis B infection. Methods - The nutritional status of patients was retrospectively evaluated in the outpatient Clinic of Pediatric Gastroenterology between February and November 2014. During the study, biochemical laboratory parameters, duration of disease, liver biopsy scores, and medication were evaluated. Additionally body mass index and body mass index centiles were calculated. Results - Of the 96 patients in this study, 68 were male and 28 were female, and the mean age was 144.7±43.9 months and 146.1±47.3 months, respectively. According to body mass index centiles five (5.2%) patients were underweight, seven (7.3%) patients were overweight, and seven (7.3%) patients were obese. Conclusions - Moderate rates of malnutrition (including obesity) were found in chronic hepatitis B infection. Additional nutritional status information of healthy and sick children should be assessed in the infection's early period, and timely interventions should be initiated.

RESUMO Contexto - Há limitados estudos investigando o impacto da infecção crônica pelo vírus da hepatite B no crescimento das crianças. Objetivo - O objetivo deste estudo foi investigar a prevalência de desnutrição em crianças com infecção crônica da hepatite B. Métodos - O estado nutricional dos pacientes foi avaliado retrospectivamente em ambulatório de gastroenterologia clínica pediátrica, entre fevereiro e novembro de 2014. Durante o estudo, parâmetros bioquímicos do laboratório, duração da doença, classificação de biópsias hepáticas e medicação foram avaliadas. Além disso, o índice de massa corporal e suas porcentagens foram calculados. Resultados - Dos 96 pacientes, 68 eram do sexo masculino e 28 eram do sexo feminino e idade média era 144.7±43.9 e de 146.1±47.3 meses, respectivamente. De acordo com as porcentagens de índice de massa corporal, cinco (5,2%) pacientes estavam abaixo do peso, sete (7,3%) pacientes estavam com sobrepeso, e sete (7.3%) estavam obesos. Conclusão - Taxas moderadas de desnutrição (incluindo obesidade) foram encontradas em infecção crônica da hepatite B. Informação sobre o estado nutricional das crianças infectadas deve ser colhida inicialmente para que intervenções oportunas sejam tomadas.

Depression and anxiety in parents of children who are candidates for liver transplantation

ABSTRACT Background The primary stress factor for families in the pre-transplant period is reported as the waiting time for suitable organs, leading to anxiety, despair, and distress. Objective We investigated the psychosocial factors, anxiety and depression, in the parents of children who are candidates for liver transplantation. Methods Thirty-five pediatric liver transplantation candidates and their 38 parents, from February to August 2014, were included. Participants were evaluated using the Hamilton Depression Rating Scale (HAM-D), Hamilton Anxiety Rating Scale (HAM-A), and Clinical Global Impression Scale (CGI). Results We found that a significant number of parents (n=25, 65.7%) were diagnosed with clinical psychiatric disease: 18.4% (n=7) with depression and 47.3% (n=18) with anxiety disorders. There was a significant difference in the examination scores of parents between genders (P <0.05). There was also a significant difference in CGI and HAM-D scores of parents relative to the history and presence of liver disease (P<0.05). Conclusion The rate of these disorders was high in relation to the prevalence of depression and anxiety disorders in the community reported in the literature. Therefore, it is necessary to evaluate psychosocial factors of parents of all transplant candidate children as a part of routine care so that the high-risk to family members and to enable early intervention.

RESUMO Contexto O fator primário de estresse para famílias no período pré-transplante é relatado como o tempo de espera por órgãos adequados, levando à ansiedade, desespero e angústia. Objetivo Investigamos os fatores psicossociais, ansiedade e depressão, em pais de crianças que são candidatas a transplante hepático. Métodos Foram incluídos trinta e cinco candidatos a transplante de fígado pediátrico e seus 38 genitores, entre fevereiro e agosto de 2014. Os participantes foram avaliados usando a escala de avaliação de depressão Hamilton (HAM-D), escala de avaliação de ansiedade Hamilton (HAM-A) e escala clínica de impressão Global (CGI). Resultados Um número significativo de pais (n=25, 65,7%) foram diagnosticados com doença clínica psiquiátrica: 18,4% (n=7) com depressão e 47,3% (n=18) com transtornos de ansiedade. Houve uma diferença significativa nas pontuações exame dos pais entre os sexos (P <0,05). Também houve uma diferença significativa nos escores de CGI e HAM-D dos pais em relação a história e a presença de doença hepática (P <0,05). Conclusão A taxa destes transtornos foi elevada em relação a prevalência de depressão e transtornos de ansiedade na comunidade relatados na literatura. Portanto, é necessário avaliar fatores psicossociais dos pais de todas as crianças candidatas a transplante como parte dos cuidados de rotina e para o alto risco para os membros da família e assim permitir uma intervenção precoce.