Evaluation of vascular and perfusional changes in the retina and choroid of children with multisystem inflammatory syndrome.

BACKGROUND: Multisystem inflammatory syndrome in children (MIS-C) is hyperinflammation following coronavirus disease 2019 (COVID-19), which affects many organs. The retina and choroid are affected by COVID-19 through microangiopathy and thrombosis but the literature on MISC-C is limited. METHODS: Thirty children (60 eyes) with MIS-C (the study group, or SG) and 32 age-and gender-matched healthy children (64 eyes) (the control group, or CG) were included in the prospective case-control study. Complete ophthalmological examinations, measurements of the vessel densities of the retinal layers, and flow area of the outer retina and choriocapillaris in both groups were conducted with optical coherence tomography angiography (OCT-A). RESULTS: The mean age of the SG was 11.9 ± 3.9 and that of the CG was 12.5 ± 4.6 years (p = 0.197). In this study we found that the vessel density of the deep layer of the inner retina was decreased significantly and was reduced in the outer retina of flow area in the SG in comparison with the CG (p < 0.05, for all). However, there was no significant difference between the groups regarding other measurements. CONCLUSIONS: In MIS-C patients, vessel densities in the deep layer of the inner retina and in the flow area of the outer retina decreased significantly. This OCTA-A finding suggests that MIS-C is related to endothelial thrombotic condition problems in small branches of the retinal artery. The results of this study support the idea that there is a need for screening of MIS-C patients for the presence of these microangiopathic and perfusional complications.

Clues for inflammatory diseases in the differential diagnosis of a child with sacroiliitis.

BACKGROUND: The purpose of this study was to compare the demographic, clinical and laboratory characteristics of patients with enthesitis-related arthritis (ERA), familial Mediterranean fever (FMF) and inflammatory bowel disease (IBD), which are inflammatory diseases that may develop sacroiliitis. Thus, it was aimed to reveal various findings that may indicate primary disease in patients with sacroiliitis. METHODS: Pediatric patients aged 6-18 years, who were being followed with a diagnosis of ERA (n = 62), FMF (n = 590), and IBD (n = 56) over the period 2013-2021 were included in the study. Sacroiliitis (n = 55) was diagnosed by magnetic resonance imaging of the sacroiliac joint, obtained from clinically suspected patients. RESULTS: Sacroiliitis was detected in 54.8% of ERA patients, 2.3% of FMF patients, and 12.5% of IBD patients. The mean follow-up period was 4.1 ± 2.8 years (10 months-8 years) for the entire study group. The most common MRI finding for sacroiliitis was bone marrow edema. Peripheral joint involvement (73.5%) and HLA B27 positivity (64.7%) was significantly higher in ERA patients, and ERA was diagnosed more frequently in patients presenting with sacroiliitis. Non-steroidal anti-inflammatory drugs (NSAIDs) were the first choice of treatment agent when sacroiliitis developed in all three patient groups. CONCLUSIONS: The clinical and laboratory findings of ERA, FMF and IBD can sometimes be intertwined or can even coexist. Treatment may differ depending on the disease associated with sacroiliitis, although NSAIDs may be used in the first-line treatment of all three diseases. Sacroiliitis patients with HLA B27 positivity and peripheral arthritis may need to be addressed as ERA.

Evaluation of eye involvement in paediatric celiac disease patients.

BACKGROUND: The non-classic presentation of paediatric celiac disease (CeD) becomes increasingly common in daily practice, which requires an awareness of eye findings. The purpose of this study was to evaluate eye involvement and effect of gluten-free diet on ocular involvement in paediatric CeD patients by measuring the thicknesses of choroid and ganglion cell complex (GCC) composed of retinal nerve fibre layer, ganglion cell layer and inner plexiform layer using enhanced depth imaging optical coherence tomography. METHODS: Forty-three CeD patients aged between four and 16 years (mean age: 9.9 ± 4.1, 12 boys and 31 girls) and 48 healthy children (mean age: 11.3 ± 4.1,17 boys and 31 girls) were compared. Following comprehensive eye examinations, thicknesses of choroid at three points and GCC layers (retinal nerve fibre layer at five points, ganglion cell layer and inner plexiform layer) were obtained using enhanced depth imaging optical coherence tomography. Measurement of thicknesses of choroid and GCC layers by a trained optical coherence tomography technician and an ophthalmologist who were not aware about group of children in paediatric CeD patients with 1 year gluten-free diet was carried out. RESULTS: All layers of subfoveal, nasal and temporal choroid were significantly thinner in CeD than in the control group (P < .001, all, respectively). No significant difference was observed between the CeD and control groups in terms of GCC thicknesses (P > .05, all, respectively). CONCLUSION: Paediatric CeD caused thinning of subfoveal, nasal and temporal areas of choroid, and this change is apparent even after 1 year gluten-free diet. This eye involvement should be more closely screened at diagnosis, and long-term clinical results of thin choroid should be determined. Thicknesses of GCC layers were not different in CeD group and may reveal the effect of diet or not involvement.

Algorithm for the diagnosis and management of the multisystem inflammatory syndrome in children associated with COVID-19.

OBJECTIVE: Although the initial reports of COVID-19 cases in children described that children were largely protected from severe manifestations, clusters of paediatric cases of severe systemic hyperinflammation and shock related to severe acute respiratory syndrome coronavirus 2 infection began to be reported in the latter half of April 2020. A novel syndrome called "multisystem inflammatory syndrome in children" (MIS-C) shares common clinical features with other well-defined syndromes, including Kawasaki disease, toxic shock syndrome and secondary hemophagocytic lymphohistiocytosis/macrophage activation syndrome. Our objective was to develop a protocol for the evaluation, treatment and follow-up of patients with MIS-C. METHODS: The protocol was developed by a multidisciplinary team. We convened a multidisciplinary working group with representation from the departments of paediatric critical care, cardiology, rheumatology, surgery, gastroenterology, haematology, immunology, infectious disease and neurology. Our protocol and recommendations were based on the literature and our experiences with multisystem inflammatory syndrome in children. After an agreement was reached and the protocol was implemented, revisions were made on the basis of expert feedback. CONCLUSION: Children may experience acute cardiac decompensation or other organ system failure due to this severe inflammatory condition. Therefore, patients with severe symptoms of MIS-C should be managed in a paediatric intensive care setting, as rapid clinical deterioration may occur. Therapeutic approaches for MIS-C should be tailored depending on the patients' phenotypes. Plasmapheresis may be useful as a standard treatment to control hypercytokinemia in cases of MIS-C with severe symptoms. Long-term follow-up of patients with cardiac involvement is required to identify any sequelae of MIS-C.

Score-based diagnostic approach to celiac disease and bone mineral density.

BACKGROUND: The aim of this study was to assess the performance of a score-based diagnostic approach (SBDA) proposed in the European Society for Paediatric Gastroenterology, Hepatology and Nutrition (ESPGHAN) 2012 guideline, and the usefulness of bone mineral density (BMD) measurement in SBDA as an objective finding in the diagnosis of celiac disease (CD). METHODS: The SBDA scores of 153 biopsy-proven celiac diagnosed children (derived from symptomatology, serology, human leukocyte antigen [HLA] analysis, histology) were calculated. Additionally, BMD Z scores obtained at diagnosis were also investigated. The diagnostic sensitivity of SBDA was tested in different scenarios in which low BMD was scored as a diagnostic finding. RESULTS: The mean age of children was 9.48 ± 3.59 years and 54.2% were female. All patients scored ≥4, which is the minimum score to diagnose CD in SBDA. Mean BMD Z score in 142 of 153 patients was -2.70 ± 1.16, and 73.9% of them were below -2. Moreover, different diagnostic scenarios without histology were tested. In one of them, BMD and HLA were not included and the sensitivity was 85.2%. In another one, low BMD was scored as an equivalent of malabsorption, HLA was not included and sensitivity was 97.2%. The sensitivities of these scenarios were significantly different (P = 0.001). CONCLUSION: In the absence of both HLA and histology, accepting low BMD as an equivalent of malabsorption drastically increased the diagnostic sensitivity, while SBDA had limited success. Therefore, BMD might be useful when HLA and biopsy are not available.

Ecthyma gangrenosum in an infant after liver transplantation.

Ecthyma gangrenosum is a rare, necrotizing, bacterial infection of the skin most commonly caused by Pseudomonas aeruginosa. It has a characteristic clinical picture starting with maculopapular eruption followed by hemorrhagic vesicle and evolving into gangrenous ulcer. Although direct skin inoculation without septicemia is also probable, usually ecthyma gangrenosum is pathognomonic for Pseudomonas septicemia, which has a mortality rate of 38-96%. Herein, we report on the case of a 9-month-old male infant diagnosed with ecthyma gangrenosum who had undergone liver transplantation approximately 6 months previously and who was under immunosuppressive treatment, in order to highlight the importance of the early diagnosis and treatment of this disease.

Frequency of coeliac disease in children with breath-holding spells.

AIM: Iron deficiency anaemia (IDA), which is reported very commonly among patients with breath holding spells (BHS), is the most common presentation of coeliac disease (CD). In that aspect, IDA may be a common pathway linking these two diseases. The aim of this study was to evaluate the frequency of CD in patients with BHS. METHODS: We studied 348 children with BHS, and 470 age- and sex-matched controls with no known disease. Serological screening for CD was performed in all patients by searching for serum tissue transglutaminase immunoglobulin A. RESULTS: The first group consisted of 348 children with BHS (231 males, 117 females; mean age 2.23 ± 1.84 years), and the second group consisted of 470 healthy children (284 males, 186 females; mean age 2.11 ± 1.98 years). A total of 300 (86.2%) patients had cyanotic type of BHS only, 27 (7.8%) had pallid type of BHS only and 21 (6%) had mixed type of BHS. The prevalence of IDA was statistically significantly higher in BHS patients compared with controls. Tissue transglutaminase immunoglobulin A was not detected as positive in any patients in either group; therefore, endoscopic and histopathological examinations were not performed. CONCLUSIONS: Our report is the first to describe the frequency of tissue transglutaminase immunoglobulin A positivity in patients with BHS. There was no evidence of a relationship between CD and BHS, but IDA seems to be an important risk factor in the development of BHS. Therefore, serological screening for CD in patients with BHS does not seem to be necessary.

Assessment of atherosclerosis in obese adolescents: positive correlation of mean platelet volume and carotid intima media thickness.

AIMS: This study aims to assess the correlation of mean platelet volume (MPV) and common carotid artery (CCA) thickness in a population of obese adolescents. METHODS: Sixty-eight patients and 23 controls were enrolled. Anthropometric measurements, triglyceride, total cholesterol, high-density lipoprotein cholesterol, low-density lipoprotein cholesterol, alanine aminotransferase, aspartate aminotransferase, γ-glutamyl transpeptidase, hemoglobin, white blood cell count, platelet count, MPV and insulin resistance by homeostasis model of assessment of insulin resistance were investigated. Furthermore, CCA thickness was measured by high-resolution ultrasound. RESULTS: MPV and the left CCA thickness were significantly higher in obese adolescents than the healthy controls. The association between MPV and left CCA was checked by linear regression analysis. MPV explained 19% of the variation in left CCA (P < 0.001). At multiple regression analysis, MPV maintained a positive association with the left CCA thickness (P = 0.002) independently of fatty liver grade, relative weight, total cholesterol and homeostasis model of assessment of insulin resistance. CONCLUSION: MPV is significantly correlated with CCA thickness in obese adolescents.

A novel homozygous mutation in the USP53 gene as the cause of benign recurrent intrahepatic cholestasis in children: a case report.

BACKGROUND: Benign recurrent intrahepatic cholestasis (BRIC) is a rare cause of cholestasis with recurrent episodes of jaundice and pruritus without extrahepatic bile duct obstruction. A mutation in the USP53 gene is known to cause BRIC-like cholestasis with normal serum gamma-glutamyltransferase (GGT) levels. CASE: We report a 16-year-old boy with recurrent episodes of cholestasis since 6 months of age with normal serum GGT levels. The liver biopsy showed ballooning degeneration of hepatocytes which is typical for BRIC, and intrahepatic and canalicular cholestasis with bilirubinostasis. We performed whole exome sequencing (WES) and identified a novel homozygous variant (NM_001371399.1:c.1558C > T) of the USP53 gene at exon 14 as the cause of BRIC. CONCLUSION: This is the first case of USP53 disease from Türkiye with a novel mutation in the USP53 gene. This novel identification of the mutation of c.1558C > T at exon 14 can provide elucidative data for those who work in the field of intrahepatic cholestasis. Our case suggests that USP53 disease must be kept in mind in patients with recurrent intrahepatic cholestasis with normal serum GGT levels.

The association of serum lipocalin-2 levels with metabolic and clinical parameters in obese children: a pilot study.

OBJECTIVE: We aimed to evaluate the association between serum lipocalin-2 level and clinical and metabolic parameters in obese children. METHODS: The study included obese children with a body mass index (BMI) >95th percentile who presented to Kecioren Teaching and Research Hospital with the complaint of weight gain and healthy children with a BMI <85th percentile. The height and weight of the patients were measured for compartment of anthropometric data. Fasting blood glucose, insulin, lipid profile, and serum lipocalin-2 level were measured to evaluate the laboratory parameters. RESULTS: The study included 33 obese and 34 healthy nonobese children. Comparison of data on the obese subjects with those of the healthy subjects shows differences in BMI, BMI-SDS, triglyceride, insulin, and homeostasis model assessment index-insulin resistance levels between the two groups were statistically significant (p < 0.05), whereas serum lipocalin-2 was not statistically significant (p >0.05). There was no statistically significant difference in serum lipocalin-2 levels when obese and control groups were reclassified as prepubertal and pubertal ( p >0.05). CONCLUSIONS: In this study, we did not find any relationships among serum lipocalin-2 level, anthropometric parameters, or metabolic parameters. According to the results of this study, we do not suggest routine investigation of serum lipocalin-2 level in obese subjects for risk stratification of the obesity-related complications.

Assessment of cardiac functions using tissue Doppler imaging in children with familial Mediterranean fever.

OBJECTIVE: Familial Mediterranean fever may carry a potential for cardiovascular disorders because of sustained inflammation during its course; however, there has been a limited number of studies investigating the cardiac functions in children. The aim of this study was to assess both ventricular diastolic functions using conventional echocardiography and tissue Doppler imaging in children with familial Mediterranean fever. PATIENTS AND METHODS: The study population included 25 patients with familial Mediterranean fever - mean age was 11.8 plus or minus 5.30 years - and 23 healthy patients as controls - mean age was 9.88 plus or minus 3.69 years. Both ventricular functions were measured using echocardiography comprising standard M-mode and conventional Doppler and tissue Doppler imaging during an attack-free period. RESULTS: The conventional echocardiographic parameters with myocardial performance index were in normal ranges and similar in patients with familial Mediterranean fever and controls, with a p-value more than 0.05. However, right ventricular diastolic dysfunction was observed in patients with familial Mediterranean fever documented by tissue Doppler imaging, with a p-value less than 0.05 for E't and A't wave ratio. CONCLUSION: Using tissue Doppler imaging, we have demonstrated that although left ventricular functions were comparable in the patients and healthy children, right ventricular diastolic function indices were impaired in patients with familial Mediterranean fever during childhood. Impaired right ventricular diastolic function may be an early manifestation of cardiac involvement in children with familial Mediterranean fever.

Hemophagocytic lymphohistiocytosis in 2 pediatric patients secondary to hepatitis A virus infection.

Hemophagocytic lymphohistiocytosis (HLH) is a rare clinical syndrome characterized by uncontrolled activation of cytotoxic T cells and antigen-presenting cells. Common clinical manifestations include high fever, maculopapular rash, neurological symptoms, coagulopathy, and abnormal liver function tests [1]. HLH can be either primary, that is, due to an underlying genetic defect, or secondary, associated with malignancies, autoimmune diseases, or infections. The true incidence of secondary HLH is difficult to define. Infection associated HLH are most commonly associated with viral infections mainly of the herpes group, with Epstein-Barr virus (EBV) that is proposed to be the most common cause [2]. Despite the high incidence of hepatitis A virus (HAV) infection in the pediatric population in general, there are few pediatric case reports in the literature about HAV-associated hemophagocytic syndrome [3]. We encountered 2 patients with HAV-associated hemophagocytic syndrome.

Celiac crisis with thrombocytopenia and coagulopathy in a child.

BACKGROUND: Celiac disease rarely presents with edema, hypoalbuminemia, acute metabolic deterioration, and electrolyte imbalances. This life-threatening condition is defined as a celiac crisis and may mimic disorders with metabolic derangement and sepsis. The crisis may present at onset or develop in celiac disease patients with poor compliance to a gluten-free diet. The fluid resuscitation and replacement of electrolyte deficits are life-saving modalities. CASE: A 14-month-old girl was admitted with fever, lethargy, severe dehydration, edema, hypotension, and commenced sepsis therapy. However, the patient had a growth delay and loss of weight with diarrhea and delayed motor skills. On admission, laboratory evaluation showed anemia, coagulopathy, hypoalbuminemia, electrolyte disturbances, and metabolic acidosis and developed thrombocytopenia during follow-up. The celiac serological tests and upper gastrointestinal endoscopic duodenal mucosa appearance, and duodenum histopathology findings suggested celiac disease. CONCLUSIONS: This case highlights that a celiac patient may present with a severe illness like sepsis and may be associated with cytopenia and coagulopathy in the celiac crisis.

Cardiac functions in children with growth hormone deficiency before and during growth hormone-replacement therapy.

Childhood growth hormone deficiency (GHD) decreases left-ventricular (LV) mass, but impairment of cardiac function has never been documented. The objective of this study was to assess the cardiac effects of GHD and recombinant human growth hormone (rhGH) treatment using conventional echocardiography and tissue Doppler imaging. Complete two-dimensional, M-mode, pulse-wave Doppler echocardiography and pulse-wave tissue Doppler imaging were performed in 12 children (6 male and 6 female patients) with GHD at baseline and at 5.86 ± 1.61 months after rhGH therapy. Recombinant human growth hormone treatment was associated with a significant increase in LV mass index (63.8 ± 27.1 to 79.3 ± 30.3 g/m(2); P < 0.01) and LV internal dimensions (21.4 ± 2.63 to 24.0 ± 4.13 mm in systole [P = 0.03] and 36.5 ± 3.90 to 39.5 ± 4.94 mm in diastole [P < 0.01]). There were statistical differences of parameters, such as deceleration time of early peak velocity of mitral, isovolumic relaxation time, and myocardial performance index (103 ± 15.4 to 139 ± 21.2 ms [P < 0.01], 55.5 ± 9.24 to 69.2 ± 3.74 ms [P < 0.01], and 37.8 ± 4.46 to 44.9 ± 5.44% [P < 0.01], respectively). Before and during rhGH therapy, there were no significant differences in fractional shortening of the left ventricle, peak mitral, and tricuspid wave velocities with ratios determined using conventional echocardiography and tissue Doppler imaging. In children, GHD affects heart morphology by inducing a decrease in cardiac size, but it does not modify cardiac function. Recombinant human growth hormone treatment increases cardiac mass, deceleration time of early peak velocity of the mitral valve, isovolumic relaxation time, and myocardial performance index, but it does not make a difference in other parameters of conventional echocardiography and tissue Doppler imaging.

Audiological findings in celiac disease.

OBJECTIVE: Celiac disease (CD) is a gluten-triggered immune enteropathy caused by a genetic predisposition. Recent papers suggest that CD is increasingly recognized by extraintestinal findings. The aim of this study was to investigate the effect of CD on hearing pathway including the olivocochlear efferent system in children. METHODS: Forty-one pediatric CD patients and 31 controls were included in the study. Both groups were evaluated with audiometry, tympanometry, transiently evoked otoacoustic emission (TEOAE), distortion product otoacoustic emission (DPOAE), and contralateral suppression of the TEOAE. RESULTS: The threshold at 250 Hz of the patients with CD was significantly higher (p < 0.05 in CD compared to control group, p < 0.0001). The signal to noise ratio (SNR) amplitudes in DPOAE testing and the SNR amplitudes with and without contralateral acoustic stimulus in TEOAE testing were significantly lower at 1,000 Hz in the CD compared to the control group. There was no significant difference between the CD and the control group regarding contralateral suppression amplitudes. CONCLUSION: CD seems to have an important impact on the auditory system, and results in an elevation of the thresholds at 250 Hz on audiometry and a decrease in the amplitudes of DPOAE and linear TEOAE at 1,000 Hz in children.

The immunostimulant OM-85 BV prevents wheezing attacks in preschool children.

BACKGROUND: No reagents have been shown to be effective in preventing wheezing attacks provoked by acute respiratory tract illnesses (ARTIs) in preschool children. New therapeutic agents and preventive strategies are needed. OBJECTIVES: We assessed the effect of OM-85 BV (Broncho-Vaxom; OM Pharma, Geneva, Switzerland) in preventing ARTI-provoked wheezing attacks in preschool children with recurrent wheezing. METHODS: A randomized, double-blind, placebo-controlled, parallel-group study was carried out between August 2007 and September 2008. The study included 75 children with recurrent wheezing who were 1 to 6 years old. Participants were randomly assigned to groups given either OM-85 BV or a placebo (1 capsule per day for 10 days each month for 3 consecutive months) at the start of the trial. Participants were followed for 12 months, which included the administration period of the test article. RESULTS: Subjects given OM-85 BV had a lower rate of wheezing attacks. The cumulative difference in wheezing attacks between the 2 groups was 2.18 wheezing attacks per patient in 12 months; there was a 37.9% reduction in the group given OM-85 BV compared with the group given placebo (P < .001). Stepwise multiple (linear) regression analysis showed that the main difference between the OM-85 BV and placebo groups was a reduction the number of ARTIs (R = -0.805, P < .001). The duration of each wheezing attack was 2 days shorter in the group given OM-85 BV than in the group given placebo (P = .001). CONCLUSION: Administration of OM-85 BV significantly reduced the rate and duration of wheezing attacks in preschool children with ARTIs.

[Silent enemy in acute rheumatic fever: subclinical carditis]. / Akut romatizmal ateste sessiz düsman: Subklinik kardit.

OBJECTIVES: Routine use of Doppler echocardiography for the initial diagnosis of acute rheumatic fever (ARF) might allow early detection and, hence, prevention of rheumatic recurrences. This study sought to determine the incidence of subclinical carditis in ARF patients. STUDY DESIGN: The study included 80 patients (64 migratory polyarthritis, 16 rheumatic chorea) who were diagnosed with ARF according to the Jones criteria, 1992 update. Rheumatic carditis was defined as the presence of the following findings on Doppler echocardiography: mitral and aortic regurgitant jets in at least two planes, the length of the jets >1 cm, and peak flow velocities of >2.5 m/sec for both mitral and aortic regurgitations persisting throughout systole and diastole, respectively. The patients diagnosed with subclinical carditis were re-evaluated at 1, 3, 6, and 12 months. RESULTS: Echocardiography revealed subclinical carditis in 25 patients (31.3%; 13 girls, 12 boys; mean age 11.4±2.5 years) with ARF. Of 64 patients with migratory polyarthritis, 34 (53.1%) had clinical carditis and 17 (26.6%) had subclinical carditis. The incidences of clinical and subclinical carditis among 16 patients with rheumatic chorea were 31.3% (n=5) and 50% (n=8), respectively. Of 20 patients who completed one-year follow-up, persistence of subclinical carditis was observed in 11 cases (55%). CONCLUSION: Clinicians should be attentive to the presence of cardiac involvement among patients with suspected ARF. Considering the high incidence of subclinical carditis, echocardiographic evidence of carditis should be used as a diagnostic criterion.

Diagnosis and Treatment Approaches in Infantile Colic (IC): Results of a Survey Among Paediatricians in Turkey.

Background and Objective: Due to limited knowledge on the etiopathogenesis of infantile colic (IC) and the insufficiency of data regarding current treatments, different approaches emerge in terms of diagnosis, and treatment modalities globally and also in Turkey. The objective of this study was to observe how infantile colic is diagnosed and treated by paediatricians in Turkey. Methods: An anonymous electronic questionnaire was used to collect the respondents' opinions. The study questionnaire was comprised of 4 different sections with 56 multiple-choice questions covering demographic features, diagnostic approach, treatment preferences and response to treatment. Results: A total of 375 paediatricians responded to the survey. Fifty three percent of the participants stated that they established the IC diagnosis based only on their clinical experience. Factors that most affected the decision to start treatment were identified as parent discomfort, decreased family quality of life, and crying duration (68, 66, and 54%, respectively). Application of soothing methods, probiotics, and simethicone were identified as the most frequently used treatment modalities (frequency ranking; 81, 76, and 50%, respectively). Of the participants, 98% stated that they used probiotic as supplements, on the other hand, 72% of the participants indicated that they used simethicone as the only medical treatment to treat IC. The question about the participants' observations regarding the response to probiotic treatment was answered by 71% of the participants with decreased crying duration, while easier stool/gas passage and resolved digestion problems were the other frequent observations (54 and 49%, respectively). The observations related to the response to simethicone treatment also included decreased crying duration in addition to decreased crying periods after feeding and easier gas/stool passage (67, 47, and 44%, respectively). Conclusions: Survey results revealed that the majority of the paediatricians used their clinical experience alone to establish the diagnosis of IC and preferred probiotic supplements and simethicone as the only medical treatment to treat IC and they observed clinical benefits from them. Insights generated by this study will be helpful to guide future efforts to improve the management of infantile colic by paediatricians.

Familial Mediterranean Fever Mutation Analysis in Pediatric Patients With Inflammatory Bowel Disease: A Multicenter Study.

BACKGROUND: The aim of the study was to evaluate familial Mediterranean fever (FMF) mutation analysis in pediatric patients with inflammatory bowel disease (IBD). The relation between MEFV mutations and chronic inflammatory diseases has been reported previously. METHODS: Children with IBD (334 ulcerative colitis (UC), 224 Crohn's disease (CD), 39 indeterminate colitis (IC)) were tested for FMF mutations in this multicenter study. The distribution of mutations according to disease type, histopathological findings, and disease activity indexes was determined. RESULTS: A total of 597 children (mean age: 10.8 ± 4.6 years, M/F: 1.05) with IBD were included in the study. In this study, 41.9% of the patients had FMF mutations. E148Q was the most common mutation in UC and CD, and M694V in IC (30.5%, 34.5%, 47.1%, respectively). There was a significant difference in terms of endoscopic and histopathological findings according to mutation types (homozygous/ heterozygous) in patients with UC (P < .05). There was a statistically significant difference between colonoscopy findings in patients with or without mutations (P = .031, P = .045, respectively). The patients with UC who had mutations had lower Pediatric Ulcerative Colitis Activity Index (PUCAI) scores than the patients without mutations (P = .007). CONCLUSION: Although FMF mutations are unrelated to CD patients, but observed in UC patients with low PUCAI scores, it was established that mutations do not have a high impact on inflammatory response and clinical outcome of the disease.