Assessment of cows milk-related symptom scoring awareness tool in young Turkish children.

BACKGROUND: The diagnosis of cows milk protein allergy (CMPA) is not always easy. Cow's Milk-related Symptom Score (CoMiSS) has been developed to raise the awareness of CMPA among the primary health-care providers. In this study, we aimed to evaluate the validity of CoMiSS as a diagnostic approach of CMPA in infants in our country. METHODS: Infants with a CoMiSS of more than 12 points were included. An elimination diet was implemented in these infants for 4 weeks, and CoMiSS was reapplied. Infants with a reduction of ≥3 points in CoMiSS were considered responsive to the elimination diet, and an open oral challenge test was performed. Infants with symptom recurrence were diagnosed with CMPA. RESULTS: The study included 168 infants. When they were included in the study, the first CoMiSS score was 13.6 ± 1.9. After the elimination diet, the number of responsive infants was 154 (91.7%). Of the infants, 91 (54.2%) were diagnosed with CMPA with positive challenge. The majority of the patients diagnosed with CMPA presented with gastrointestinal and/or dermatological symptoms (80.3%). Positive family history of allergy was more prevalent in CMPA(+) infants (P < 0.001). The mean atopic dermatitis score was higher in CMPA(+) infants (P = 0.001). Eosinophilia and cows milk-specific IgE (CM-sIgE) positivity were more prevalent in infants with CMPA (P = 0.01 and P < 0.001, respectively). CONCLUSIONS: CoMiSS is a valuable tool to evaluate CMPA in primary care. The presence of multiple symptoms, especially skin involvement, helps to recognise infants with CMPA. Family history and eosinophilia also support the diagnosis of CMPA.

The Frequency of Lysosomal Acid Lipase Deficiency in Children With Unexplained Liver Disease.

OBJECTIVES: Evidence suggests that lysosomal acid lipase deficiency (LAL-D) is often underdiagnosed because symptoms may be nonspecific. We aimed to investigate the prevalence of LAL-D in children with unexplained liver disease and to identify demographic and clinical features with a prospective, multicenter, cross-sectional study. METHODS: Patients (aged 3 months-18 years) who had unexplained transaminase elevation, unexplained hepatomegaly or hepatosplenomegaly, obesity-unrelated liver steatosis, biopsy-proven cryptogenic fibrosis and cirrhosis, or liver transplantation for cryptogenic cirrhosis were enrolled. A Web-based electronic data collection system was used. LAL activity (nmol/punch/h) was measured using the dried blood spot method and classified as LAL-D (<0.02), intermediate (0.02-0.37) or normal (> 0.37). A second dried blood spot sample was obtained from patients with intermediate LAL activity for confirmation of the result. RESULTS: A total of 810 children (median age 5.6 years) from 795 families were enrolled. The reasons for enrollment were unexplained transaminase elevation (62%), unexplained organomegaly (45%), obesity-unrelated liver steatosis (26%), cryptogenic fibrosis and cirrhosis (6%), and liver transplantation for cryptogenic cirrhosis (<1%). LAL activity was normal in 634 (78%) and intermediate in 174 (21%) patients. LAL-D was identified in 2 siblings aged 15 and 6 years born to unrelated parents. Dyslipidemia, liver steatosis, and mild increase in aminotransferases were common features in these patients. Moreover, the 15-year-old patient showed growth failure and microvesicular steatosis, portal inflammation, and bridging fibrosis in the liver biopsy. Based on 795 families, 2 siblings in the same family were identified as LAL-D cases, making the prevalence of LAL-D in this study population, 0.1% (0.125%-0.606%). In the repeated measurement (76/174), LAL activity remained at the intermediate level in 38 patients. CONCLUSIONS: Overall, the frequency of LAL-D patients in this study (0.1%) suggests that LAL-D seems to be rare even in the selected high-risk population.

Evaluation of children with chronic cough including obstructive sleep apnea: a single-center experience.

Chronic cough in children may be due to a diverse range of etiologies. We aimed to evaluate children with chronic cough following a standardized cough algorithm and assess obstructive sleep apnea (OSA) as a possible etiology. In addition, cough resolution rates of two different treatment protocols in children with non-specific cough were compared. A total of 237 children referred for chronic cough were assessed and classified according to etiologies. Children with non-specific cough were assigned either in the early-arm (group-1, n = 13) or delayed arm (group-2, n = 23). The presence of OSA was evaluated using a pediatric sleep questionnaire, and polysomnography was handled in indicated patients. Asthma (n = 82) and protracted bacterial bronchitis (PBB) (n = 73) were the most frequent etiologies. Cough resolution was higher in group-1 (100%) compared with group-2 (50%) (absolute risk reduction (rr) = 43.48% [95% CI 21.38-65.58%]). Polysomnography revealed mild (n = 6), moderate (n = 7), or severe (n = 5) OSA in 18 children, with adenoid/adenotonsillary hypertrophy as the leading cause.Conclusion: We recognized asthma and PBB as the most frequent causes of chronic cough in our cohort. Early treatment of patients with high parental anxiety might be beneficial. We also believe that further studies including larger series might eventuate in incorporation of assessment of OSA to standardized algorithms. What is known? • Chronic cough in children may be due to a diverse range of etiologies, including serious respiratory disorders. Thus, its correct diagnosis and treatment are essential. • Although a well-defined reason of chronic cough in adults, obstructive sleep apnea (OSA) has not been been evaluated so far in children with chronic cough. What is new? • We examined OSA for the first time as a possible cause of chronic cough in children and detected OSA with polysomnography in cases who scored high pediatric sleep questionnaire (PSQ) scores. • We believe that studies including larger series might eventuate in incorporation of assessment of OSA to standardized algorithms for children with chronic cough.

A rare cause of protein losing enteropathy: collagenous sprue.

Collagenous sprue is a clinicopathological entity with an unknown etiology. Its clinical features include progressive malabsorption, diarrhea, weight loss, unresponsiveness to treatment, and high mortality rates. The age interval of collagenous sprue is quite broad and ranges between 2 and 85 years. As far as to our knowledge, the presented case is the first reported case in infancy.

Gastric carcinoid tumor in a 14-year old girl.

Gastric carcinoid tumors (GCT) are rare lesions that constitute 2.6-8.7% of all gastrointestinal carcinoids, mostly affect middle-aged females but the incidence in children is unknown. We present a 14-year-old girl, with GCT. She was treated with recombinant human growth hormone (GH) for complete GH deficiency, and endoscopy was performed to identify iron-deficiency anemia. Upper gastrointestinal endoscopy revealed a gastric polyp, and biopsies were compatible with GCT.

3D-reconstruction and heterotopic implantation of reduced size monosegment or left lateral segment grafts in small infants: A new technique in pediatric living donor liver transplantation to overcome large-for-size syndrome.

BACKGROUND: Monosegmental grafts and reduced left lateral segment grafts have been introduced to overcome the problems of large-for-size grafts in pediatric living donor liver transplantation. Here, we introduce a new method of reduced size monosegment or left lateral segment grafts transplanted in the right diaphragmatic fossa heterotopically in small infants. METHODS: There were 4 infants who underwent living donor liver transplantation with heterotopically implanted reduced monosegmental or left lateral segment grafts at our center. The demographic, operative, postoperative, and follow-up data of these infants were collected from our prospectively designed database and reviewed. Technical details of the donor and recipient operation are shared and a supplemental provided. RESULTS: The mean recipient age was 7.5 ± 0.9 months (range: 5-10 months), and body weight was 5.9 ± 0.7 kg (range: 4.6-7.8). Primary diagnoses of the recipients were biliary atresia (n:3) and progressive familial intrahepatic cholestasis (n:1). Mean graft-recipient weight ratio was 3.3 ± 0.2. Reduced monosegment III grafts were used in 2 cases, and reduced left lateral segment grafts were used in the other 2 patients. Bile duct reconstruction was done by Roux-en-Y hepaticojejunostomy in 3 patients and duct-to-duct anastomosis in the remaining patient. All patients recovered from the liver transplantation operation and are doing well at a mean follow-up of 8 months. CONCLUSION: Living donor liver transplantation with heterotopically implanted reduced monosegmental or left lateral segment seems feasible for the treatment of neonates and extremely small infants. Further accumulation of cases and long-term follow-up are necessary to collect data for the establishment of this treatment modality.

Diagnostic Workup and Micronutrient Deficiencies in Children With Failure to Thrive Without Underlying Diseases.

OBJECTIVES AND STUDY: Failure to thrive (FTT) is an interruption in the normal pattern of growth. We aimed to evaluate the clinical characteristics, underlying etiologies, diagnostic workup, and frequency of micronutrient deficiencies (MDs) in children with FTT. METHODS: This retrospective study was done with 729 children (319 male, mean age 6.8 ± 5.5 years) with FTT (weight for age <3rd percentile) who had visited the Pediatric Gastroenterology outpatient clinic between 2011 and 2016. Children who had previously known chronic diseases, inadequate intake, or inadequate absorption were excluded. Acute malnutrition was considered if weight-for-age z-scores were below -2 and height-for-age z-scores were above -2, and chronic malnutrition was defined if height-for-age z-scores were below -2. RESULTS: The malnutrition rate was 57.1% (acute: 37.8%, chronic: 19.3%). Of children, 98.7% had laboratory evaluation. We found that 1.1% of laboratory tests, 0.4% of imaging studies, 27% of endoscopic findings, and biopsy results led to a specific diagnosis, equating to a total of 1.3% of diagnostic workup leading to a diagnosis related to FTT. The causes of FTT were inadequate nutrition (61.4%), psychiatric and behavioral disorders (17.2%), endocrinologic disorders (9%), recurrent infections (6.4%), gastrointestinal diseases (1.9%), and cardiac disorders (0.1%). Vitamin A and D deficiencies were the most common MD. CONCLUSION: We showed that the most common cause of FTT is "purely nutrition" FFT because of inadequate caloric intake, and extensive diagnostic workup is rarely helpful to reveal the etiology. These results implicate the importance of clinical evaluation and anthropometry to evaluate a child with FTT.

A rapid lateral flow stool antigen immunoassay and (14)C-urea breath test for the diagnosis and eradication of Helicobacter pylori infection in children.

Our aim was to evaluate diagnostic accuracy of rapid immunochromatographic stool antigen test (Rapid HpSA; LINEAR Chemical, Barcelona, Spain) and a practical low-dose (14)C urea breath test (UBT) (Heliprobetrade mark) test before and after eradication therapy. One hundred nine children with abdominal symptoms (age range, 5-17 years; mean, 12.1) underwent endoscopy, (14)C-UBT, and Rapid HpSA. Patients were defined as Hp infected when histology was positive for Hp. Forty children (36.6%) were Hp infected. The sensitivity of Rapid HpSA and (14)C-UBT was 65% and 92.5% (P = 0.0003), respectively; the specificity of Rapid HpSA and (14)C-UBT was 92.3% and 85.5% (P = 0.180), respectively. After eradication therapy endoscopy, (14)C-UBT and Rapid HpSA were repeated. The eradication rate was 70.5%. After eradication, the sensitivity of Rapid HpSA and (14)C-UBT was 60% and 100%, respectively; the specificity of Rapid HpSA and (14)C-UBT was 100%. (14)C-UBT was more reliable than the Rapid HpSA test for the diagnosis and for confirming eradication of Hp infection.

Successful living-related liver transplantation in a child with familial yellow nail syndrome and fulminant hepatic failure: report of a case.

An 11-yr-old boy with familial YNS and FHF and who underwent LRLT is presented. LRLT was performed from his father with YNS. The findings of hepatic failure resolved immediately after LRLT, but severe respiratory complications and chylous ascites were observed during the follow-up. At 12 months after successful LT, the patient has good graft function, but findings of YNS including chronic cough, lymphedema and yellow nails are still present. To the best of our knowledge, this is the first case of YNS who underwent LRLT for FHF.

Subclinical cardiac dysfunction in children with coeliac disease: is the gluten-free diet effective?

Objectives. The aim of this study is to investigate the effects of coeliac disease on cardiac function in children using conventional transthoracic echocardiography (TTE) and tissue Doppler echocardiography (TDE). Methods. Coeliac disease patients were evaluated in two different groups based on serum endomysial antibody (EmA) titers (EmA (+) and EmA (-)), and the data obtained by conventional and TDE studies were compared between the patient groups and healthy controls. Results. There was no significant difference between EmA (+) and EmA (-) groups in terms of the conventional TTE parameters, including ejection fraction (EF), fractional shortening (FS), and left ventricle end diastolic diameter (LVEDD), that show the left ventricular systolic function (P = 0.727, P = 0.317, P = 0.118). TDE showed a significant difference in left ventricle (LV) isovolumic relaxation time (LV IVRT) and LV myocardial performance index (LV MPI) parameters between EmA (+) and EmA (-) patient groups (P < 0.0001). Conclusion. The measurement of LV MPI and LV IVRT parameters by TDE would be beneficial in early determination of the cardiac involvement and establishing appropriate treatment and followup of patients with coeliac disease as well as in making distinction between EmA (+) and EmA (-) patients.

Celiac disease: presentation of 109 children.

PURPOSE: The clinical features of patients with celiac disease (CD) are variable. In the present study, clinical and laboratory features of 109 patients with CD were retrospectively evaluated. MATERIALS AND METHODS: In all cases, diagnosis of CD was made by European Society for Paediatric Gastroenterology, Hepatology and Nutrition (ESPGHAN) criteria and clinical and laboratory findings, including hematological and biochemical analyses, immunoglobulin levels, autoantibodies [antinucler antibody (ANA), antidouble stranded DNA (dsDNA), antimitochondrial antibody (AMA), anti-smooth muscle antibody (ASMA), liver kidney antibody (LKM-1), anti thyroid peroxidase (TPO), anti thyroglobulin (Tg)], bone mineral density (BMD), and electroencephalogram were evaluated. The type of CD was recorded. RESULTS: Of 109 patients with CD, 66 (60.6%) were classical type, 41 (37.6%) were atypical type and 2 (1.8%) were silent type. The mean age was 8.81 +/- 4.63 years and the most common symptom was diarrhea (53.2%) followed by failure to thrive, short stature, and abdominal pain. Paleness (40.4%), underweight (34.8%), and short stature (31.2%) were the most common findings. Iron deficinecy anemia (81.6%), zinc deficiency (64.1%), prolonged prothrombin time (35.8%), and elevated transaminase levels (24.7%) were the most common laboratory findings. Eight percent of patients had at least 1 autoantibody, and 28 of 52 patients had low BMD. Four of 38 patients had abnormalty in electroencephalograms. The prevalance of selective immunoglobulin (Ig) A deficiency was 9.1%. Histocompatibility antigen HLA-DQ and/or DQ8 genotypes were found in 91% of patients. Abdominal distention, iron deficiency, prolonged prothrombine time, hypoalbuminemia, and elevated transaminase levels were more significantly frequent in the classical type than atypical type (p < 0.005). CONCLUSION: Although classical CD was seen in most patients in the present study, clinical variability of the condition should be kept in mind.