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Candidemia is a life-threatening infection in hospitalized children. This study aimed to evaluate candidemia's demographic and clinical characteristics and identify the risk factors and outcomes of Candida albicans (CA) and non-albicans Candida (NAC) spp.A retrospective cohort was designed to evaluate pediatric patients with candidemia between January 2008 and December 2020.A total of 342 episodes in 311 patients were evaluated. The median age of the patients was 2.1 years (1 month-17 years and 6 months), and 59.6% were male. The prevalence of NAC (67.5%) candidemia was higher than that of CA (32.5%). The most commonly isolated Candida species was Candida parapsilosis (43.3%), followed by C. albicans (32.5%), Candida glabrata (6.1%), and Candida tropicalis (5.0%). The length of hospital stay prior to the positive culture and the total length of hospital stay were longer in the NAC group (P = .003 and P = .006). The neutrophil count was lower in the NAC group (P = .007). In the multivariate analysis, total parenteral nutrition, antifungal prophylaxis, and a history of coagulase-negative staphylococci (CoNS) culture positivity in the past month were risk factors for developing candidemia due to NAC (P values were .003, .003, and .045). C. albicans and C. parapsilosis fluconazole resistance were 9.5% and 46.6%, respectively. The rates of amphotericin B resistance were 1.1% and 7.6% in C. albicans and C. parapsilosis, respectively. Mortality (14-day and 30-day) rates did not differ between the groups.A history of CoNS culture positivity in the past month, total parenteral nutrition, and antifungal prophylaxis increases the risk of NAC candidemia.

Aim:In this study, the correlation of faecal calprotectin (FC) levels with endoscopic and histopathological findings was evaluated in children who underwent upper gastrointestinal system (UGIS) endoscopy.Materials and Methods:The patients aged 4-18 years admitted to our endoscopy unit were included in this study. Faecal samples were collected on the day participants presented for the study. A calprotectin assay was performed on the faecal samples using enzyme-linked immunosorbent assay kits. FC levels were compared with those of children with normal histopathology.Results:The FC levels of 112 children included in this study were evaluated according to their histopathological diagnoses. Their FC levels were not found to be significantly higher than those in healthy children. No significant difference was found in the FC levels of participants with or without signs of inflammation in the esophagus, stomach and duodenum. In those participants with chronic gastritis, Helicobacter pylori (H. pylori) gastritis, reflux esophagitis or celiac disease, FC levels above cut-off values were observed. However, no significant difference was found in those participants with normal endoscopic findings. There was no significant difference in FC levels between similar regions of the UGIS with or without signs of inflammation. A positive correlation was discovered between eosinophil counts and FC levels in patients with H. pylori gastritis and esophagitis.Conclusion:The diagnostic value of FC levels in UGIS diseases was not sufficient to establish a definitive diagnosis in our study.

Background. Chronic abdominal pain is a frequent childhood complaint. This study aims to determine the relationship between bile reflux, which is increasing with the growth in packaged food consumption resulting from the changing food industry, and Helicobacter pylori gastritis. Methods. In this retrospective study, 804 cases where there was an endoscopic examination for abdominal pain were included. We recorded the patients' age, sex, and macroscopic and microscopic endoscopic findings. Patients with chronic diseases were excluded. Results. Our study included 804 cases. Of patients, 61.8% were female and 38.2% were male. The mean age was 11.56 +/- 4.14 years. The Helicobacter pylori gastritis rate was found to be 22.3% among all patients. Bile reflux was seen in 192 (23.9%) patients. Only 27 (14.1%) of the 192 patients had Helicobacter pylori positivity (p=0.002). Conclusions. Helicobacter pylori gastritis is less common among patients with bile reflux. In another study conducted in our outpatient clinic before the 2000s, the frequency of Helicobacter pylori gastritis was found to be 40%, but after 2000 this rate decreased to 22.3% due to bile reflux caused by the changing food industry. This result may be explained by the bactericidal effects of bile acids.

Background Citrin deficiency (CD) is an autosomal recessive genetic disorder caused by a defect in the mitochondrial aspartate/glutamate antiporter, citrin. Three clinical manifestations have been described until today. Case presentation We reported 5 CD patients from two families. Four patients were male and one patient was female. Two of them have NICCD (neonatal intrahepatic cholestasis caused by citrin deficiency); three of them have CTLN2 (adult-onset type II citrullinemia). Both NICCD patients showed typical clinical and biochemical changes with a diagnosis confirmed by mutations in the SLC25A13 gene. We detected a previously unreported homozygous novel mutation c.478delC (L160Wfs*36 ) on the SLC25A13 gene. All of the CTLN2 patients were siblings. Proband was a 15-year-old mentally retarded and autistic male who had admitted to our emergency with disorientation. Laboratory data showed hyperammonemia and citrullinemia. Conclusions Two different profiles of age-related CD have been depicted with this article. It has been aimed to underline that the CD can be observed in different forms not only in neonatals or little infants but also in adolescents. This article is the first case series that covers both NICCD and CTLN2 cases together and that has been published in Turkey. Considering the fact that especially the majority of CTLN2 cases have been identified in Asian countries, our article has vital importance in terms of defining phenotypic features of the disease.

BACKGROUND: Hepatitis-associated aplastic anemia (HAAA) is a rare complication that presented with bone marrow failure after acute hepatitis. HAAA usually occurs in adolescent men within 1-6 months following hepatitis. Most of HAAA’s etiology has non-A-E viral hepatitis. METHODS: Our retrospective study included patients with acute fulminant hepatitis who had been treated in Ege University Pediatric Gastroenterology, Hepatology and Nutrition Department and İzmir Kent Hospital Clinical, laboratory, and epidemiological data of the patients were collected from the files. RESULTS: In this study, 499 children underwent liver transplantation (LT) in two pediatric transplantation centers. Sixty-eight (13.6%) out of 499 patients, underwent liver transplantation due to fulminant hepatic failure (FHF). Therefore, a total of 64 patients (34 girls, 30 boys) with a diagnosis of FHF have included in the study. Thirty-two (50.0%) of 64 FHF were due to non-A-E hepatitis and 4 out of the 64 patients (6.2%) with FHF developed HAAA. All of the patients received prednisolone as immunosuppression treatment after LT. Three patients were also given Tacrolimus and 1 received an additional mycophenolate mofetil. One of the patients was given prednisolone and cyclosporine treatment without tacrolimus. Bone marrow transplantation was performed in 1 patient (25.0%). Two of the patients received immunosuppressive treatment including rabbit-derived anti-thymocyte globulin, cyclosporine, and initially prednisolone. CONCLUSION: In children who underwent liver transplantation for non-A-E FHF are at high risk to develop aplastic anemia. The clinicians should be alert after orthotropic liver transplantation patient could develop aplastic anemia and early treatment with immunosuppressive therapies result in a more successful outcome.

Amac : Colyak hastaligi; konjenital olarak yatkin bireylerde her yasta ortaya cikabilen bir ince bagirsak hastaligidir. Colyak hastalarinda psikiyatrik sorunlar saglikli bireylere kiyasla daha yaygin olabilir. Bu calismanin amaci colyak hastaligi olan hastalarda psikiyatrik sorunlari ve aile islevini kontrol etmek ve bu verilerle colyak diyetine uyum ile arasindaki iliskiyi incelemektir. Gerec ve Yontemler : Calismaya Colyak hastaligi tanisiyla takip edilen 12-18 yas arasi toplam 35 adolesan hasta alinmistir. Hastalarin yasi, tani semptomlari, Marsh evreleri kaydedildi. Poliklinikte boy ve kilo olcumleri yapilip, colyak seroloji testi alinmistir. Hastanemiz pediatri polikliniklerine basvuran ve bilinen kronik hastaligi olmayan 47 olgu da kontrol olarak alinmistir. Hastalara cocuk psikiyatri hekimi tarafindan Beck depresyon olcegi, gucler guclukler anketi, aile degerlendirme olcegi yapildi. Sonuclar : Calisma ve kontrol gruplari beck depresyon olcegisonuclarina gore karsilastirildiginda, colyak hastaligi olanlarda saglikli kontrol grubuna gore istatistiksel olarak anlamli derecede yuksek puanlar elde edildi. Colyak tanisi alan ergenlerin, calisma ve kontrol gruplarinin gucler ve guclukler soru formlari ile karsilastirildigi durumlarda, duygusal ve sosyal alanlarda daha fazla sikinti yasadiklari saptanmistir. Sonuc : Colyak Hastaligi tanisi olan cocuklarda, psikiyatrik sorunlar ve depresyon saglikli cocuklara gore genellikle daha sik gorulur ve yasam kalitesinde bozulmaya neden olabilir. Bu nedenle, colyak tedavisinde psikososyal destek onemli olabilir.

WOS: 000449010500005, PubMed ID: 30381272, Background/Aims: Thiopurines are widely used in the treatment of inflammatory bowel disease, but data are limited. Or aim was to determine the outcome of thiopurine application in children diagnosed with ulcerative colitis (UC). Materials and Methods: Forty-eight patients with UC, diagnosed at our center between 2005 and 2016 and applied azathiopurine (AZA), were included in the study. Data were collected retrospectively. The diagnosis of UC was based on the conventional clinical, radiological, histological, and endoscopic assessment. All patients with UC at this intercept were analyzed at the 4- and 6-week and 3-month intervals after remission to determine patient characteristics, thiopurine properties, and its efficacy and toxicity. Determination of remission, relapse, and steroid refractoriness/dependency were guided according to the European Crohn's and Colitis Organisation consensus. Results: Azathiopurine was started at the median 1 month (0-12 months), and it was applied thereafter for maintenance (n=43). Response to remission induction was obtained in 40 (93.7%) patients. The median duration of the AZA treatment was 24 months (5-63). In 34 (85%) of the 40 children, it was well tolerated until the last visit. During the follow-up, adverse events occurred in 6 patients. These are leucopenia, neutropenia, vomiting, diarrhea, and skin rush. Conclusion: Thiopurine is an appropriate treatment option for remission in patients with UC. For a long-term follow-up, it is very important to identify patients with UC who have clinical remission with side effects and with thiopurine application.

Respiratuar Sinsityal Virüs (RSV) 2 yaş altı süt çocuklarında en önemli alt solunum yolu enfeksiyonu (ASYE) etkenidir. Özellikle 6 aydan küçük süt çocuklarını, prematüreleri, doğumsal kalp hastalığı olanları ve immün sistem hastalığı olan çocukları etkilemektedir. Ayrıca yaştan ve kişiden bağımsız olarak düşük sosyoekonomik düzey, nisan ve eylül arası aylarda doğum, kreş ve yurtlarda kalmak, kalabalık yaşam koşulları, okula giden kardeşin varlığı, sigara dumanına maruziyet, ailede astım ve atopi gibi risk faktörlerine sahip olmak da RSV ye bağlı enfeksiyon ihtimalini artırmaktadır. Çalışmamızda klinik olarak ASYE tanısı konulan 0-2 yaş grubundaki hastaların RSV sıklığının ve klinik özelliklerinin araştırılması amaçlanmıştır. ASYE tanısı 100 hasta çalışmaya alındı. Tekrarlayan hışıltılı solunum öyküsü olan bebekler, eşlik eden ciddi hastalığı bulunanlar, nörolojik ve metabolik bozukluğu olanlar, önceden bilinen immün yetersizliği olanlar, 24 aydan büyük olanlar çalışma dışı bırakılmıştır. Hastalardan nazofaringeal sürüntü örneği alınarak RSV respi-strip ile RSV antijeni tarandı. RSV pozitif saptanan ve saptanmayan hastalar klinik, laboratuvar, özgeçmiş, aile özellikleri açısından karşılaştırıldı. Hastalarımızda RSV sıklığı % 63 olarak saptandı. Cinsiyete göre RSV sıklığı açısından anlamlı fark saptanmadı. RSV antijeni pozitif saptanan çocukların beslenme ve bakım şekilleri, kardeş sayısı, gelir düzeyi, doğumsal kalp hastalığı, ailede astım öyküsü, evde sigara içilmesi, arasında anlamlı farklılık saptanmadı. RSV, 2 yaş altındaki Türk çocuklarında önemli alt solunum yolu enfeksiyonu nedenidir. Ayrıca süt çocukluğu döneminde özellikle riskli gruptaki hastalarda önemli oranda mortalite ve morbiditeye yol açmaktadır. Nazofaringeal sürüntü örneğinden RSV antijen saptanması uygun ve etkin bir tanı yöntemdir.

WOS: 000427075700013, PubMed ID: 29391313, Background/Aims: A liver transplant is the preferred treatment for patients with end-stage liver disease, as it usually results in long-term survival. However, due to the use of chronic immunosuppressive therapy, which is necessary to prevent rejection, de novo cancer is a major risk after transplantation. The aim of this study was to assess the incidence of post-transplant malignancies in children after liver transplantations. Materials and Methods: The study group consisted of 206 liver transplant recipients, with no history of cancer, including hepatocellular carcinoma, in two liver transplantation centers in Turkey between 1997 and 2015. Data were obtained from patient's data chart. Results: In the study group, de novo cancer was diagnosed in 13 of the 206 patients. Post-transplant lymphoproliferative disease (PTLD) occurred in seven (53.8%) patients and other malignancies in six of the 13 patients. The types of PTLD were as follows: B-cell origin (n= 2), Epstein-Barr virus (EBV)-related (n= 2), T-cell origin (n= 1), and Hodgkin's lymphoma (n= 2). EBV DNA was isolated from seven patients, three of whom developed PTLD. The others developed Kaposi's sarcomas, Burkitt's lymphomas, cutaneous large-cell lymphomas, Hodgkin's lymphomas, and liver sarcomas. Conclusion: After transplantation, immunosuppressive treatment is unavoidable, increasing the risk of malignancies. However, a close follow-up and periodic screening can reduce cancer-related mortality and morbidity.

This study was designed to investigate the frequency of gastroesophageal reflux disease (GERD) in children with functional constipation (FC). It was structured to assess the improvement level in reflux symptoms by measuring the acid reflux in these patients after they had received FC treatment.Ninety-four children who suffered from constipation were evaluated prospectively. Data forms were completed to assess the GERD symptoms in all the cases. Twenty-four-hour pH meter monitoring was performed in 55 of the patients with GERD symptoms. The cases with abnormal acid reflux were treated by conventional therapy for FC. These cases were re-evaluated for GERD symptoms and weekly defecation frequency, and 24-h pH meter monitoring was performed at the end of a 3-month period.An abnormal level of acid reflux was determined in 23 of the 55 cases. After the constipation treatment, a significant improvement was achieved in the acid reflux index and GERD symptoms, whereas the weekly defecation frequency increased.GERD is a frequent problem in children with FC. Treatment of the constipation can improve the reflux symptoms and abnormal acid reflux in these cases. Physicians should bear in mind the co-occurrence of these two prevalent problems for better disease management.

WOS: 000443041100010, Wilson's disease (hepatolenticular degeneration) is an autosomal recessive defect in cellular copper transport. Impaired biliary copper excretion leads to an accumulation of copper mostly in the liver, brain and cornea. Familial Mediterranean Fever (FMF) is an autosomal recessive autoimmune disease as a result of a mutation in the MEFV gene encoding pyrin protein characterized by recurring fever and polyserositis attacks. In this report, we describe a Turkish female child with cholestatic hepatitis of unknown etiology who was later diagnosed with typical FMF.

Aim: This study aims to evaluate the sleep quality and the quality of life (QoL) of adolescents with chronic gastritis, and determine the related factors. Materials and Methods: This study included patients who were diagnosed with chronic gastritis both clinically and histopathologically. the Pittsburgh Sleep Quality Index and Epworth Sleepiness scale were used to assess sleep quality, and the Pediatric Quality of Life Inventory was used to assess QoL. the control group included healthy volunteers with no chronic diseases and no gastrointestinal system complaints. Results: Fifty-six patients with gastritis and 55 healthy volunteers were included. the patients with gastritis were found to have significantly lower overall QoL subscale, and total scale scores, except for the social functioning total score. Except for the subjective sleep quality, significant differences were seen between the groups in the sleep quality subscale, total scale, and sleepiness scale averages. the total score of the sleep quality scale was significantly higher in patients who had lower incomes than expenditure. There were no significant differences between the obese or overweight patients with gastritis and the rest of the gastritis patients in the study sample. There were no significant differences found between the Helicobacter pylori positive and negative gastritis patients in terms of the total QoL and sleepiness scale scores. Conclusion: This study is important because it is the first study in adolescents in this respect. the sleep and QoL scores of those adolescents with chronic gastritis were lower than the control group.

Introducción. El estreñimiento funcional (EF) es un problema frecuente en la niñez. El objetivo fue investigar los hallazgos alimentarios y antropométricos de los niños con EF. Población y métodos. Se clasificó a los pacientes con EF según Roma IV. El grupo de referencia incluyó a niños sin diagnóstico de EF ni ninguna otra enfermedad. Se incluyó a los niños de los consultorios de gastroenterología pediátrica entre septiembre de 2017 y marzo de 2018. Se registraron peso, estatura e índice de masa corporal. Se usaron los puntajes Z del índice de masa corporal para identificar sobrepeso y obesidad. La desnutrición se definió según Waterlow. Se evaluaron los diarios de alimentación de tres días de ambos grupos; el mismo nutricionista calculó el promedio diario de calorías, fibra, hidratos de carbono, proteínas y grasa. Resultados. Se incluyó a 40 pacientes con EF y 40 controles sanos. Veinticuatro pacientes con EF tenían estatura y peso normales. No hubo diferencias significativas en el promedio diario de calorías, hidratos de carbono, grasa y fibra entre los grupos de EF y de referencia. Si bien la proporción (%) de proteínas en la dieta fue significativamente más baja en los niños con EF, la cantidad de proteínas ingerida a diario estuvo dentro de los límites normales en ambos grupos. Conclusión. La mayoría de los niños con EF tenían estatura y peso normales. No hubo una relación significativa entre el EF y el contenido de hidratos de carbono, grasa y fibra; solo proporciones bajas de proteínas en el EF. Introduction. Functional constipation (FC) is a common problem in childhood. This study intended to investigate the dietary properties and anthropometric findings of children with FC. Population and methods. Patients with FC were defined according to the Rome IV diagnostic criteria. The control group included children who were not diagnosed with FC or any other organic disease. The children who admitted to pediatric gastroenterology outpatient clinic between September 2017-March 2018 were included. Anthropometric measurements of weight, height, and body mass index were recorded. Body mass index z-scores were used to identify for overweight and obese children. Malnutrition was defined according to Waterlow criteria. The three-day nutritional diaries of both FC patients and control subjects were assessed and the daily average of calorie, fiber, carbohydrate, protein and fat intake were calculated by the same nutritionist. Results. Fourty patients with FC and fourty healthy control were included. Twenty-four patients with FC were in the normal height and weight ranges. There was no significant difference in the average daily calorie, carbohydrate, fat and fiber intake between the FC and control groups. Although protein ratios (%) in the diet were found to be significantly lower in children with FC, the amount of protein that taken daily was found to be within normal limits in both groups. Conclusion. Most children with FC were in the normal range for height and weight. There was no significant relationship between FC and carbohydrate, fat and fiber content in the diet, only low protein ratios were found in FC.

Objetivos. El objetivo de este estudio fue investigar los síntomas psiquiátricos en adolescentes con diagnóstico de gastritis crónica y evaluar el funcionamiento familiar. Métodos. La población estuvo conformada por adolescentes con diagnóstico endoscópico e histopatológico de gastritis crónica sin otra enfermedad crónica adicional.Se midieron los niveles de ansiedad, los niveles de depresión y los síntomas emocionales y conductuales de los adolescentes mediante el cuestionario para trastornos emocionales infantiles relacionados con la ansiedad (Screen for Child Anxiety Related Disorders, SCARED), el inventario de depresión de Beck (Beck Depression Inventory, BDI) y el cuestionario de capacidades y dificultades (Strengths and Difficulties Questionnaire, SDQ). El funcionamiento familiar se evaluó con el instrumento McMaster de evaluación familiar (McMaster Family Assessment Device, FAD). Resultados. Se incluyó a 58 adolescentes en el estudio.Conforme a los resultados de las subescalas del SDQ, los adolescentes con gastritis tenían más trastornos en las dimensiones de problemas emocionales, hiperactividad y relación con los pares, aunque los resultados de problemas conductuales y conducta prosocial fueron normales. En todas las subescalas del instrumento McMaster de evaluación familiar, los puntajes fueron superiores a 2, lo que indica problemas en el funcionamiento familiar. Conclusiones. según este estudio, los adolescentes con gastritis crónica tienen más dificultades en la relación con los pares y en el funcionamiento familiar, y expresan más problemas emocionales. Objectives. The aim of the present study was to investigate psychiatric symptoms in adolescents diagnosed as having chronic gastritis, and to evaluate family functioning. Methods. The population consisted of adolescents who were diagnosed endoscopically and histopathologically as having chronic gastritis without additional chronic disease. The anxiety levels, depression levels, and emotional and behavioral symptoms of the adolescents were measured using the Screen for Child Anxiety Related Emotional Disorders (SCARED), Beck Depression Inventory (BDI), and Strengths and Difficulties Questionnaire (SDQ). Family functioning was evaluated using the Family Assessment Device (FAD). Results. Fifty eight adolescents were included to study. According to the SDQ subscale results, adolescents with gastritis had more problems in emotional, hyperactivity, and peer relations areas, but the results in conduct problems and prosocial behaviors were normal. Levels of all subscales of Family Assessment Device were higher than 2, showing problems in family functioning. Conclusions. This study suggests that adolescents with chronic gastritis experience more difficulties in peer relations and family functioning, and they express more emotional problems.

WOS: 000463369400008, PubMed ID: 30666970, Background/Alms: Pediatric intestinal pseudo-obstruction (PIPO) is a severe disorder of gut motility. In this rare and difficult-to-manage disease, complex treatment method, such as intestinal transplantation, is sometimes needed. This study evaluated the management and follow-up results of patients with PIPO who received treatment at our center. Materials and Methods: The cases of 13 patients with PIPO were reviewed retrospectively. Demographic data, clinical features, etiologies, pharmacological and surgical treatments, nutritional support, anthropometric findings, small bowel transplantation (SBT), and survival rates were assessed. Results: Two of the patients were diagnosed at 1 and 5 years of age, while other patients were diagnosed during neonatal period. The etiological cause could not be identified for 5 patients. Pharmacological treatment response was observed in 38.4% of patients. Post-pyloric feeding was applied in 4 patients, but no response was observed. Gastrostomy decreased the clinical symptoms in 3 patients during the abdominal distension period. Total oral nutrition was achieved in 38.4% of the total-parenteral-nutrition (TPN)-dependent patients. It was observed that anthropometric findings improved in patients with total oral nutrition. Liver cirrhosis developed in 1 patient. Venous thrombosis developed in 4 patients. The SBT was performed on 3 patients. One of these patients has been followed up for the last 4 years. Conclusion: Pediatric intestinal pseudo-obstruction is a rare disease that can present with a wide range of clinical symptoms. While some patients require intestinal transplantation, supportive care may be sufficient in others. For this reason, patients with PIPO should be managed individually.

kiran tasci, ezgi/0000-0001-5842-0292, WOS:000493179100014, Crohn's disease (CD) is a chronic disease of the digestive system. It is characterized by lesions predominantly located in the small intestine and colon, although they may also occur in any segment of the gut, including the oral cavity. The involvement of oral mucosa in CD may be underreported, as up to 42% of pediatric patients with CD were found to have oral lesions after undergoing a thorough oral examination. Here, we present a case of CD in which the patient was referred to a dentist due to non-healing aphthous ulcers in the mouth. Our patient, a 16-year-old boy, was admitted to the dentistry clinic with swelling of the oral mucosa and the lips which had been ongoing for 3 months. The patient was referred to our department due to the non-response of the mucosal lesions to repeated cycles of medical treatment. Colonoscopy revealed a cobblestone appearance especially in the left colon, partly normal mucosa, and exudative ulcers. Biopsy samples showed increased inflammatory cell infiltration in the lamina propria and cryptitis in some of the crypts. A close collaboration between gastroenterologists and dentists is useful when addressing the diagnosis and appropriate management of these patients.

Aim: This clinical study examined various dimensions of the Quality of Life (QoL) in children who had undergone liver transplantation. Materials and Methods: the patient group (n=50) of the study consisted of children and their families where the child had received a liver transplant (possibly from their mother) in Ege University Organ Transplant Research Center. the control group (n=50) consisted of children and their families who did not undergo any organ transplants, did not have any health issues and were of similar age, gender and socio-economic status with the members of the study group. the children in the study were examined with a QoL questionnaire named KINDer Lebensqualitätsfragebogen (Children’s Quality of Life Questionnaire). Results: the overall QoL and the QoL in the physical, emotional, self-esteem, family, friend, and school sub-categories as reported by the children themselves in the study group, in both the 8-12 and 13-16 year age groups were determined to be higher (p

EgeUn###, Background: Gaucher disease (GD) is a lysosomal storage disorder caused by autosomal recessive mutations in the glucocerebrosidase (GBA) gene, which encodes acid beta-glucosidase. GD type 3c is a rare group characterised by cardiovascular involvement, and homozygous D448H is the most-frequent mutation. Case presentation: We describe two patients who had homozygous D448H mutations. The index patient had hepatosplenomegaly, liver insufficiency and cardiac involvement and her sister had severe cardiac involvement with cardiomyopathy and diffuse aortic calcification. The index case's liver was transplanted at the age of 6 months from a related donor and her sister who had severe cardiovascular disease died at the age of 12 years. Conclusions: Our patients had clinical variability. We need to discuss whether liver involvement could be the initial signs in patients with GD type 3c.

Aim: Liver transplantation (LT) is performed for several indications in the pediatric population, including malignancy and acute hepatic failure among others. LT has become an important treatment alternative for metabolic diseases. In most pediatric transplant centers, metabolic liver disease is the second most common indication for LT after biliary atresia. Our studies aim is to compare the post-transplant outcomes of those patients with metabolic and other liver diseases in our transplant program. Materials and Methods: One hundred eighty-nine patients who underwent LT between 1997 and 2015 due to metabolic diseases and acute or chronic liver failure were included in the study. This study was performed retrospectively. Results: We enrolled 189 patients in our study. 54% (n=102) male and 46% (n=87) female patients were included in the study. The metabolic disease group included 56 patients and the non-metabolic disease group contained 133 patients. Progressive familial intrahepatic cholestasis is the most common disease among metabolic diseases resulting in LT and Wilson disease is the second most common. Post-transplant immunosuppression was similar for both groups. There was no difference in both groups regarding the onset of post-transplant complications for graft type or recipient age. Biliary and portal vein complications were most particularly defined in the group with non-metabolic diseases. There was no significant difference in survival between the two groups. Conclusion: LT is an important treatment option for acute hepatic failure and end-stage liver diseases. In addition, LT is an alternative treatment option for some metabolic diseases.

WOS: 000462484500011, PubMed ID: 30869487, Objectives. The aim of the present study was to investigate psychiatric symptoms in adolescents diagnosed as having chronic gastritis, and to evaluate family functioning. Methods. The population consisted of adolescents who were diagnosed endoscopically and histopathologically as having chronic gastritis without additional chronic disease. The anxiety levels, depression levels, and emotional and behavioral symptoms of the adolescents were measured using the Screen for Child Anxiety Related Emotional Disorders (SCARED), Beck Depression Inventory (BDI), and Strengths and Difficulties Questionnaire (SDQ). Family functioning was evaluated using the Family Assessment Device (FAD). Results. Fifty eight adolescents were included to study. According to the SDQ subscale results, adolescents with gastritis had more problems in emotional, hyperactivity, and peer relations areas, but the results in conduct problems and prosocial behaviors were normal. Levels of all subscales of Family Assessment Device were higher than 2, showing problems in family functioning. Conclusions. This study suggests that adolescents with chronic gastritis experience more difficulties in peer relations and family functioning, and they express more emotional problems.

Background: Pancreatitis can be seen at any age in childhood. Therefore, it is important for pediatricians to know the diagnosis and the management of pancreatitis. Objectives: The aim of this study was to evaluate the etiological factors, clinical features and management of pancreatitis in children. Methods: This study included hospitalized children who were diagnosed with pancreatitis. The clinical presentations, laboratory analyses, radiological features, etiologies and treatments were recorded. Results: A total of 59 pancreatic attacks were recorded in 41 patients. The most common symptoms were abdominal pain and vomiting, and the most common etiological cause was idiopathic. Approximately 22% of the patients had acute recurrent episodes. Somatostatin was used to treat 61% of the attacks; however, it did not reduce the time to recovery after an attack when compared to those patients who did not use somatostatin (P = 0.36). The white blood cell counts and urea and calcium levels were significantly different between those patients who did and did not use somatostatin. Seventeen (28.8%) of the pancreatitis attacks were determined to be severe. Moreover, a mutation in the cystic fibrosis transmembrane conductance regulator was detected in two patients with recurrent pancreatitis. Conclusions: Fever and irritability can be signs of pancreatitis in infants and toddlers. In our cases, the somatostatin treatment was not effective in terms of the time to recovery after an attack.

Respiratorysyncytial virus (RSV) is the most important cause of lower respiratory tractinfections ( LRTI ) in infants under 2 years of age. It particularly affectschildren who have premature birth stories, congenital heart disease or immunesystem disease and younger than 6 months old. In addition, having lowsocioeconomic status, crowded living conditions, exposure to cigarette smoke,family history of asthma and atopy increases the risk of RSV infectionregardless of. The aim of the study was to investigate the frequency andclinical characteristics of RSV in patients 0-2 years of age who were clinicallydiagnosed with LRTI in our study. 100 patients who were diagnosed as LRTI weretaken into the study. A nasopharyngeal swab was taken from the patients and RSVrespi-strip rapid diagnostic kit was used to screen RSV antigen. Patients whowere diagnosed as RSV positive and who did not have RSV were compared in termsof clinical, laboratory, resume, family characteristics. RSV frequency in ourpatients was 63%. There was no significant difference in RSV frequencyaccording to sex. There is a significant difference in nutritional and carepatterns of RSV-positive children, number of siblings, history of congenitalheart disease, family history of asthma, smoking at home. RSV is a major causeof lower respiratory tract infections in Turkish children under 2 years of age.It also leads to significant mortality and morbidity in infants, especially inthe risky group. RSV antigen detection (as a rapid diagnostic method) from aswab specimen is an appropriate and effective diagnostic method., Respiratuar Sinsityal Virüs (RSV) 2 yaş altı süt çocuklarında en önemlialt solunum yolu enfeksiyonu (ASYE) etkenidir. Özellikle 6 aydan küçük sütçocuklarını, prematüreleri, doğumsal kalp hastalığı olanları ve immün sistemhastalığı olan çocukları etkilemektedir. Ayrıca yaştan ve kişiden bağımsızolarak düşük sosyoekonomik düzey, nisan ve eylül arası aylarda doğum, kreş veyurtlarda kalmak, kalabalık yaşam koşulları, okula giden kardeşin varlığı,sigara dumanına maruziyet, ailede astım ve atopi gibi risk faktörlerine sahipolmak da RSV ye bağlı enfeksiyon ihtimalini artırmaktadır. Çalışmamızda klinikolarak ASYE tanısı konulan 0-2 yaş grubundaki hastaların RSV sıklığının veklinik özelliklerinin araştırılması amaçlanmıştır. ASYE tanısı 100 hastaçalışmaya alındı. Tekrarlayan hışıltılı solunum öyküsü olan bebekler, eşlikeden ciddi hastalığı bulunanlar, nörolojik ve metabolik bozukluğu olanlar,önceden bilinen immün yetersizliği olanlar, 24 aydan büyük olanlar çalışma dışıbırakılmıştır. Hastalardan nazofaringeal sürüntü örneği alınarak RSVrespi-strip ile RSV antijeni tarandı. RSV pozitif saptanan ve saptanmayan hastalarklinik, laboratuvar, özgeçmiş, aile özellikleri açısından karşılaştırıldı.Hastalarımızda RSV sıklığı % 63 olarak saptandı. Cinsiyete göre RSV sıklığıaçısından anlamlı fark saptanmadı. RSV antijeni pozitif saptanan çocuklarınbeslenme ve bakım şekilleri, kardeş sayısı, gelir düzeyi, doğumsal kalphastalığı, ailede astım öyküsü, evde sigara içilmesi, arasında anlamlıfarklılık saptanmadı. RSV, 2 yaş altındaki Türk çocuklarında önemli alt solunumyolu enfeksiyonu nedenidir. Ayrıca süt çocukluğu döneminde özellikle riskligruptaki hastalarda önemli oranda mortalite ve morbiditeye yol açmaktadır.Nazofaringeal sürüntü örneğinden RSV antijen saptanması uygun ve etkin bir tanıyöntemdir.