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Objectives: HSD3B7 deficiency is a genetic disorder caused by mutations in the HSD3B7 gene, leading to impaired bile acid synthesis and the accumulation of toxic intermediates. Affected patients typically present with cholestatic liver disease, including jaundice and progressive liver dysfunction., Case Presentation: This case series describes three pediatric patients from two families diagnosed with HSD3B7 deficiency, each demonstrating varying clinical severity and outcomes. All cases exhibited cholestasis with normal GGT levels and elevated AST/ALT. Case 1, a male infant, also presented with craniosynostosis and failure to thrive, responding well to cholic acid therapy. Case 2, a female infant and first cousin of Case 1, had mild cardiac abnormalities and showed slight improvement with ursodeoxycholic acid and vitamin supplementation. Case 3, a male infant with a compound HSD3B7 and ATP8B1 mutation, progressed to fulminant liver failure, ultimately requiring a liver transplant. A novel c.531 + 1G>C variant was identified in Cases 1 and 2, contributing to understanding genotype-phenotype correlations in bile acid synthesis disorders., Conclusions: Early diagnosis and treatment with bile acid therapy are crucial for improving outcomes, although some cases may necessitate liver transplantation. This series emphasizes the need to consider bile acid synthesis disorders in the differential diagnosis of cholestasis., (© 2025 Walter de Gruyter GmbH, Berlin/Boston.)

Our objective was to obtain information about diaphragm muscle mass, strength, and quality using conventional US and US-based imaging method shear wave elastography (SWE) in pediatric patients with primary malnutrition. We also sought to evaluate the usability of SWE in the diagnosis and follow-up of sarcopenia. We evaluated the diaphragm thickness and stiffness of patients diagnosed with primary malnutrition in the pediatrics and pediatric gastroenterology outpatient clinic using US and US-based SWE. The data were compared with those of an age- and gender-matched healthy control group. The study included 115 volunteers. Of the cases included, 53 were healthy controls and 62 (54%) were patients with primary malnutrition. There was no significant difference between the groups in terms of age and gender (p = 0.891 and p = 0.923, respectively). The malnourished patient group had significantly lower diaphragm thickness and stiffness. There is a significant positive correlation between anthropometric measurement Z scores and diaphragm thickness and stiffness., Conclusion: Our study indicated that there was a reduction in the thickness of the diaphragm and a decline in its stiffness, which could be an indirect indicator of the quality and strength of the diaphragm muscle. These findings suggest that US and SWE evaluation of the diaphragm muscle may have the potential for use in the diagnosis and follow-up of sarcopenia. However, further comprehensive randomized controlled studies are needed to confirm this., What Is Known: • Magnetic resonance imaging, computed tomography, and dual-energy x-ray absorptiometry are commonly used in the evaluation of sarcopenia. • The psoas and paraspinal muscles are commonly used in the evaluation of sarcopenia., What Is New: • Ultrasound and shear wave elastography can be used in the evaluation of pediatric sarcopenia. • Diaphragm muscle can be used in the evaluation of pediatric sarcopenia., Competing Interests: Declarations. Ethics approval: All authors approved the final version of the manuscript. Competing interests: The authors declare no competing interests., (© 2024. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)

Background: Trichohepatoenteric syndrome (THES) is characterized by neonatal-onset intractable diarrhea. It often requires long-term total parenteral nutrition (TPN). In addition, other characteristic findings of the syndrome include growth retardation, facial dysmorphism, hair abnormalities, various immunological problems and other rare system findings. Two genes and their associated pathogenic variants have been associated with this syndrome: SKIC3 and SKIC2., Methods and Results: In this case series, the clinical findings and molecular analysis results of a total of 8 patients from 5 different families who presented with persistent diarrhea and were diagnosed with THES were shared. Pathogenic variants were detected in the SKIC3 gene in 6 of our patients and in the SKIC2 gene in 2 patients. It was planned to compare the clinical findings of our patients with other patients, together with literature data, and to present yet-undefined phenotypic features that may be related to THES. In our case series, in addition to our patients with a novel variant, patient number 2 had a dual phenotype (THES and Spondyloepimetaphyseal dysplasia, sponastrime type) that has not been reported yet. Delay in gross motor skills, mild cognitive impairment, radioulnar synostosis, osteoporosis, nephropathy and cystic lesions (renal and liver) were observed as unreported phenotypic findings., Conclusions: We are expanding the clinical and molecular repertoire of the syndrome regarding patients diagnosed with THES. We recommend that the NGS (next-generation sequencing) multigene panel should be used as a diagnostic tool in cases with persistent diarrhea., (© 2024. The Author(s), under exclusive licence to Springer Nature B.V.)

Background Pediatric acute liver failure (PALF) is still life-threatening and requires urgent care. The presence of encephalopathy is a clinical diagnosis, but it is more difficult to diagnose in children than in adults, and an electroencephalogram (EEG) can be invaluable. The role of EEG in managing the treatment of patients with PALF, other than the identification of encephalopathy, is unknown. This study aimed to investigate patients' EEGs, which may guide in choosing the most appropriate treatment in encephalopathy children. A further aim was to investigate a new score method, based on the laboratory results, which might indicate the presence of encephalopathy in cases with PALF. Methods Medical data of 33 PALF patients followed in our clinic were reviewed retrospectively. This study included 33 patients, whose EEG recording was taken on the first day of supportive treatment due to liver failure in the pediatric intensive care unit (PICU). The EEG findings were categorized into three classes: normal, epileptic and non-epileptic paroxysmal, and background encephalopathic patterns including widespread slowing and voltage suppression. Result This retrospective study included 13 male and 20 female patients with a mean age at presentation of 4.82±4.81 months whose EEG was performed on the first day of supportive therapy for liver failure in the PICU. The EEG findings were categorized into three groups: normal, epileptic and non-epileptic paroxysms, and encephalopathic patterns including diffuse background slowing and voltage suppression. Comparing EEG findings and treatments, we found that the normal EEG group responded well to liver-supporting therapy and the rate of plasmapheresis treatment was significantly higher in the diffuse slowing group. Patients with diffuse slowing of the EEG were 9.6 times more likely to receive plasmapheresis. We found that above a cut-off of ≥7.5 for the TAI (total bilirubin, albumin, and international normalized ratio (INR)) score used in our study, the risk of developing encephalopathy increased 14.4-fold. Conclusions In PALF, EEG findings can provide findings that will help clinicians in determining treatment selection and prognosis, as well as detecting epileptic focus and encephalopathy. The TAI score can be used to assess the risk of encephalopathy in cases of PALF, when it is challenging to identify encephalopathy or when an EEG is not possible., Competing Interests: The authors have declared that no competing interests exist., (Copyright © 2024, Özgör et al.)

Background/aims: Solitary rectal ulcer syndrome (SRUS) can be overlooked, diagnosed late, or misdiagnosed, particularly in childhood. This study reviewed the 13-year experience of the authors' institution to increase clinicians' awareness of SRUS in the presence of symptoms. This paper reports the endoscopic and histopathological findings in children presenting with hematochezia., Methods: The clinical and laboratory findings of 22 patients diagnosed with biopsy-proven SRUS in the authors' clinic between 2007 and 2020 were evaluated retrospectively., Results: The mean age at diagnosis was 12.5±2.6 years, and 59.1% of the patients were male. The median time of diagnosis was 24 months. A single ulcer lesion was found by colonoscopy in 18 patients (81.8%), two ulcers in two patients (9%), and more than two ulcers in two patients (9%). The pathology reports of all biopsies taken from the lesions were consistent with a solitary rectal ulcer. In the first stage, the treatment was started with toilet training, a high-fiber diet, and laxatives. In 11 patients (50%) who did not respond to the initial treatment, a 5-ASA enema was added. A glucocorticoid enema was added to treatment in five patients (22%) whose complaints did not regress despite this treatment. Clinical remission was achieved in five of the patients (18.1%). The time to diagnosis was significantly shorter in those in remission than those not in remission (p=0.04)., Conclusions: This study is the first large series on Turkish children. An increased awareness of SRUS in children will increase the rate of early diagnosis and treatment, allowing remission in more patients.

Background/aims: Liver transplantation is an acceptable treatment for some selected hepatocellular carcinoma. We report our experience of 6 patients with liver transplantation for hepatocellular carcinoma with background inherited metabolic disease., Materials and Methods: This is a single-center retrospective, descriptive study. Consecutive patients who underwent liver transplantation for hepatocellular carcinoma with background inherited metabolic disease were included in the study. The record of the patients was accessed, and the following data were extracted: sociodemographic variables, type of metabolic disease, date of liver transplantation, tumor characteristics, laboratory parameters, Model for End-Stage Liver Disease score, immediate- and long-term outcome after transplantation, disease-free survival, and overall survival. Data were analyzed using Statistical Package for the Social Sciences version 25.0., Results: Six patients received liver transplantation for hepatocellular carcinoma with background inherited metabolic liver disease. The median age was 4.5 years. The median Model for End-Stage Liver Disease score was 29.30. The median maximum tumor diameter was 2.15 cm. Three patients had multiple tumor nodules. Half of the patients had microvascular invasion. Four of the patients had a moderately differentiated tumor. Progressive familial intrahepatic cholestasis type II is the commonest inherited metabolic disease seen in 3 patients. Median follow-up is 46.1 months. Half of the patients are currently more than 5 years post liver transplantation with no features of recurrence. The estimated survival rates at 1, 3, and 5 years are 100%, 83.3%, and 83.3%, respectively., Conclusion: Liver transplant for these categories of patients is associated with good disease-free and overall survival, even in the presence of some seemingly poor prognostic features.

Purpose: This study was conducted to examine the effect of anxiety and depression levels on quality of life in children with celiac disease., Design and Method: This descriptive and correlational study was conducted with 98 children diagnosed with celiac disease who applied to the pediatric outpatient clinic of a university hospital in Eastern Anatolia between September 2021 and August 2022. Data were collected using the State-Trait Anxiety Scale, Depression Scale, and Quality of Life Scale through face-to-face interviews conducted by the researchers. Percentage distribution, mean, independent samples t-test, Pearson correlation analysis and regression analysis were used to analyze the data., Results: It was found that 62% of the participant children were female and their mean age was 11.69 ± 4.15 years. The mean scores of state anxiety, trait anxiety, depression and quality of life of children with celiac disease were 42.46 ± 5.42 (high), 43.83 ± 7.08 (high), 23.37 ± 4.79 (high) and 43.67 ± 19.67 (low), respectively. Regression analysis revealed that anxiety had a statistically significant relationship with quality of life., Conclusions: It was found that children with celiac disease experienced high levels of depression and anxiety along with physical functionality and psychosocial health problems and this negatively affected their quality of life. It is recommended that children with celiac disease should be followed up and supported psychosocially., Practice Implications: That healthcare professionals can contribute to reducing the depression and axienty and improving the quality of life by strengthening the social support systems of childrens with celiac disease., Competing Interests: Declaration of Competing Interest The authors declare that they have no conflict of interests., (Copyright © 2023 Elsevier Inc. All rights reserved.)

Objective: The healthcare workers in pediatric liver transplantation units are exposed to various stresses; however, their burnout has not been clarified yet. This study aimed to determine burnout, psychological symptoms and empathy levels in healthcare workers, to examine the relationship between these variables and to investigate the predictors of burnout., Method: This cross-sectional study was conducted on healthcare workers in Turgut Özal Medical Center Pediatric Liver Transplant Institute. The participants filled out a questionnaire that investigating demographic and occupational characteristics, and including questions from Toronto Empathy Questionnaire, Maslach Burnout Inventory, and Brief Symptom Inventory., Results: Fifty healthcare workers participated in the study. Based on moderate and higher severity scores, 48% of the participants were emotionally exhausted, 22% of them were depersonalized. All of them had a high perception of personal accomplishment. There was a correlation between psychological symptoms level and emotional exhaustion and personal accomplishment as well as empathy and personal accomplishment. Not choosing the profession and the department willingly, age, education level, marital status, duration of profession, unit, not receiving in-service training, empathy, depressive symptoms and hostility scores predicted different aspects of burnout., Conclusion: Considering that burnout and psychological stress lead to reduced professional abilities and the development of serious complications, the results obtained can guide managers on the measures to be taken., (© 2022 Wiley Periodicals LLC.)

Objective: It has been reported that bone mineral density (BMD) is decreased in children with Celiac disease (CD) compared to their healthy peers. The aim of this study was to reveal possible risk factors for low BMD in Turkish children newly diagnosed with CD., Methods: Eighty-six patients (2-18 years old) with CD were included in this retrospective study. The relationship between their lumbar BMD z-scores calculated according to their chronological age (CA) and height age (HA) and their clinical, laboratory [biochemical parameters, tissue transglutaminase antibody-IgA (TTGA) levels, human leukocyte antigen (HLA) types] and histopathological parameters were evaluated., Results: The mean age of the patients at diagnosis was 8.06±4.08 years. The BMD z-score CA was ≤-2 standard deviation (SD) in 26.7% of the patients. The BMD z-score HA was ≤-2 SD in 12.8% of the patients. The BMD z-score HA only correlated with their age at diagnosis of CD (r s value 0.269). However, there was no statistically difference between the BMD z-score HA >-2 SD and ≤-2 SD subgroups regarding their clinical, laboratory and histopathological parameters., Conclusion: Low BMD is common in children with newly diagnosed CD. Age at diagnosis, gender, body size, Celiac symptoms, biochemical parameters, TTGA level, HLA type, and histopathological stage had no predictive values in terms of low BMD in this patient group., (©Copyright 2023 by Turkish Society for Pediatric Endocrinology and Diabetes | The Journal of Clinical Research in Pediatric Endocrinology published by Galenos Publishing House.)

Objective: A close relationship has been suggested between Celiac disease (CD) and glandular autoimmunity. The aim of this study was to determine the predictive factors for autoimmune glandular disease (AGD) in children with CD., Methods: The study included 228 pediatric patients, diagnosed with CD between 2010 and 2019. The cases with AGD (Group 1) and those without AGD (Group 2) and the patients with type 1 diabetes mellitus (T1DM) (Group A) and those without T1DM (Group B) were retrospectively reviewed and compared in terms of clinical and laboratory features., Results: AGD was detected in 8.8% (n=20) of the patients: T1DM in 13 (65%), T1DM and Hashimoto’s thyroiditis (HT) in 3 (15%), HT only in 2 (10%), T1DM and Graves disease (GD) in 1 (5%), and GD only in 1(5%). The mean age at the diagnosis of CD was significantly higher in Group 1 (10.93±4.15 years) compared to Group 2 (8.10±4.19 years) (p<0.05) and also was significantly higher in Group A compared to Group B (p<0.05). Most of the diagnoses of AGD were made before the diagnosis of CD and age was an effective factor. There was no difference between Group 1 and Group 2 and Group A and Group B in terms of gender, typical/atypical CD ratio, tissue transglutaminase IgA (TTGA) level, human leucocyte antigen (HLA)-DQ2 and/or HLA-DQ8 positivity rate, and histopathological stage., Conclusion: Although patients with a diagnosis of co-existent CD and AGD were significantly older than patients with isolated CD, gender, celiac symptoms, TTGA level, HLA type, and histopathological stage had no predictive value for the coexistence of AGD in patients with CD.

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)., Competing Interests: Conflict-of-interest statement: All the authors declare that they have no conflict of interest., (©The Author(s) 2022. Published by Baishideng Publishing Group Inc. All rights reserved.)

Background: Neonatal cholestasis is caused by a group of diseases that cause jaundice, which can be encountered in the neonatal period. Biliary atresia (BA) and idiopathic neonatal hepatitis (INH) are among neonatal cholestasis diseases., Aims: The aim of this study was to perform histopathological and ultra-structural examinations of liver biopsy tissue samples from BA and INH patients with liver biopsies taken during laparotomy to confirm the diagnosis of biliary atresia., Settings and Design: A total of patients undergoing Kasai surgery before the age of 60 days were included in an "early" group (n = 7), whereas patients undergoing surgery after the age of 60 days were included in a "late" group (n = 11). The control group (n = 11) included INH patients., Materials and Methods: For histopathological examinations, liver tissue samples obtained intra-operatively were subjected to routine histopathological procedures after being stained with caspase-3 and cytokeratin-7 antibodies. Ultra-structural evaluations were also performed. Statistical analysis used: For comparisons between the groups, a one-way analysis of variance (ANOVA) test and the Mann-Whitney U test were used for continuous variables., Results: Histopathological findings reflected the specific liver pathologic findings seen in biliary atresia. Although there was no significant difference between the BA groups, these parameters were not detected in the control group. The histopathological evaluations revealed no significant differences in the findings of liver parenchyma damage between the early, late, and control groups. Electron microscopic examinations showed that the patients in the late group had more severe signs of intra-cellular damage to the liver., Conclusions: Although the histopathological examination revealed no significant differences in liver damage between the three groups, in ultra-structural evaluation, intra-cellular damage was found to be less in groups with better prognosis. Electron microscopy evaluations of intra-cellular damage may be more useful in this respect., Competing Interests: None

Background and Study Aims: Progressive familial intrahepatic cholestasis (PFIC) is an autosomal recessively inherited disease that causes intrahepatic-hepatocellular cholestasis. PFIC constitutes approximately 10-15% of cholestatic liver diseases in children. The aim of this study is to draw attention to this group of diseases, which pose a higher risk, in societies where consanguineous marriage is more common, and to share our experiences since the studies in the literature, regarding this group of diseases are case series with small number of patients., Patients and Methods: This cross-sectional study was conducted on 34 patients who were admitted with jaundice and diagnosed by genetic analysis, between January 2015 and July 2020., Results: We found 17.6% of patients with PFIC type 1, 55.9% patients had PFIC type 2, 14.7% patients had PFIC type 3, 8.8% patients had PFIC type 4 and 2.9% patients had PFIC type 5. Partial internal biliary diversion was performed in 5 (14.7%) patients, who had severe itching during follow-up, did not respond to medical treatment, and did not have significant fibrosis in liver biopsy yet. The degree of itching before PIBD was rated as +4 (cutaneous erosion, bleeding and scarring), in 5 patients and the rates were 0 (absent) in two patients, and +1 (mild itching) in 3 patients, 6 months after PIBD, these differences were statistically significant(p = 0.027). The mean weight z score was-1.43 (-3.72-+0.73), before PIBD, while it was 0.39(-1.86 -+2.45), six months after PIBD; the diference was statistically significant(p = 0.043). Liver transplantation was performed in 12 (35.3%) patients with significant fibrosis in liver biopsy and developing signs of portal hypertension., Conclusion: The PFIC disease group is a heterogeneous disease group that is difficult to diagnose and treat. It should be considered in patients with cholestasis and/or pruritus and those with a history of consanguineous marriage between parents and death of a sibling with similar clinical symptoms., Competing Interests: Declaration of Competing Interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2021 Pan-Arab Association of Gastroenterology. Published by Elsevier B.V. All rights reserved.)

Background: Familial Mediterranean fever (FMF) is an autoinflammatory disease characterized by abdominal and chest pain and recurrent fever due to inflammation in the serosal membranes such as peritoneum, pleura and synovia. In FMF, recurrent inflammatory cytokine production may lead to cirrhosis. The aim of this study was to determine the prevalence of FMF in children with cryptogenic cirrhosis and it was found to be high, to add FMF among the etiological causes of cirrhosis., Materials and Methods: This prospective cohort study conducted at the Hospital of İnönü University, Malatya, Turkey. In this study, 44 patients diagnosed with cryptogenic cirrhosis by biopsy, in the Pediatric Gastroenterology, Hepatology and Nutrition Clinic, were included, after the other reasons that may cause chronic liver disease were excluded. MEVF gene analysis was performed for all patients with cryptogenic cirrhosis., Results: FMF genetic mutation was detected in 9 (20%) of 44 patients. M694V mutation was detected in one patient (2.27%) and E148Q homozygous mutation was detected in one patient (2.27%). Various other heterozygous mutations were detected in seven other patients. Homozygous and heterozygous R202Q mutations were detected in one patient., Conclusion: We suggest that FMF plays a role in the etiologic differential diagnosis of cryptogenic cirrhosis., (© The Author(s) [2021]. Published by Oxford University Press. All rights reserved. For permissions, please email: journals.permissions@oup.com.)

Purpose: Pediatric hepatocellular carcinoma is rarely seen in childhood. It constitutes approximately 1% of childhood solid organ malignancies. Pediatric hepatocellular carcinoma is the second most common malignant liver tumor after hepatoblastoma in children. In this review, we aimed to review the diagnosis and treatment of pediatric hepatocellular carcinoma in the light of the latest literature., Methods: We reviewed the literature in terms of the diagnosis and treatment of pediatric hepatocellular carcinoma., Results: Hepatocellular carcinoma (HCC) and hepatoblastoma constitute 0.5-1.5% of all childhood malignant tumors. HCC is responsible for 27% of all liver tumors and 4% of all pediatric liver transplantations. While 99.6% of HCC is seen in adults, only 0.4% of it is seen in pediatric patients. Etiological predisposition and biological behavior are different from adults. In a child with cirrhosis or liver disease, HCC should be suspected in the presence of a high level of AFP and an abnormal nodule on ultrasonography. Hepatoblastoma should be considered first in the differential diagnosis., Conclusion: Treatment of pediatric HCC is challenging. Complete surgical resection is essential for the cure. To this end, different neoadjuvant chemotherapy protocols have been designed to convert non-resectable tumors into resectable tumors. For tumors that cannot be resected, liver transplantation for each patient with childhood HCC should be decided individually.

Objective: It is well known that local complications, such as avascular necrosis and arthrosis can develop after surgery for developmental dysplasia of the hip (DDH). Thus far, systemic complications that may develop in such cases have not been identified in the literature. This study is the first case series to evaluate acute liver failure (ALF) development after DDH surgery in pediatric patients., Patients and Methods: Six patients, five female and one male, who underwent DDH surgery were selected for this study. Perioperative fasting time, laboratory values, treatments, histopathological evaluations, and prognoses after ALF in these patients were evaluated retrospectively., Results: All the patients were administered paracetamol and sevoflurane in therapeutic doses. The patients were referred postoperatively to our pediatric emergency department after 5 ± 1.67 days (range = 3-7 days) on average. The average perioperative fasting time was 9.3 ± 0.82 hours (range = 8-10 hours). Due to the very high aminotransferases and use of paracetamol, intravenous N-acetylcysteine was administered alongside supportive treatments to all the patients. After liver transplantation, two of three patients with grade 3 encephalopathy, died in the early postoperative period. Histopathological evaluations of the three patients' explants were compatible with toxic hepatitis due to paracetamol., Conclusions: Paracetamol is a commonly used analgesic after pediatric surgery. The therapeutic dose of paracetamol remains uncertain in children who have been fasting for a long time and have been exposed to hepatotoxic drugs due to previous surgery. In conclusion, caution should be exercised in the use of paracetamol in children with DDH who will undergo surgery, and careful perioperative clinical and laboratory monitoring for ALF is essential.

Background: Wilson's disease is a rare cause of acute liver failure and is highly fatal without liver transplantation. Fast and accurate diagnostic methods are needed for fulminant Wilson's disease (FWD). In this study, we aimed to develop an early, simple and accurate diagnostic method to differentiate FWD from nonwilsonian acute liver failure (NWALF) causes using routine biochemical data., Methods: The medical records of 24 paediatric FWD and 120 paediatric NWALF cases diagnosed at the Department of Pediatric Gastroenterology, Hepatology, and Nutrition between January 2007 and February 2017 were retrospectively reviewed., Results: Using receiver operator characteristics curve (ROC) analysis, we have determined the best cut-off point for laboratory findings in FWD. Patients meeting these cut-off points were assigned one point and others were assigned zero point. We then formed a new variable consisting of the combination of 14 variables and performed a new ROC analysis. We obtained a cut-off point of ≥4.5 for FWD. The diagnostic performance of the score was characterized by a sensitivity of 0.889, a specificity of 0.879 (P < .001). A scoring system based only on aspartate aminotransferase (AST), alanine aminotransferase (ALT), alkaline phosphatase, AST/ALT ratio, uric acid and haemoglobin had a best cut-off point of ≥2.5 for FWD, which had a sensitivity of 0.875, a specificity of 0.867 (P < .001)., Conclusions: Our study demonstrated that biochemical markers offer almost as reliable, fast and accurate diagnosis of FWD as offered by ceruloplasmin and 24-hour urinary copper., (© 2019 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.)

Infections after liver transplantation (LT), despite prophylactic therapy, are still important causes of morbidity and mortality in children. Although underlying disease and immunosuppression along with the complexity of LT procedure are the major predispositions to infections, there still might be under recognised factors predisposing infections in paediatric LT. In this study, we retrospectively analysed the risk factors of bacterial, viral, and fungal infections after LT in a series of 167 children (median =5 yr.). Of all children, 112 (67%) experienced infections: 93 (55.7%) bacterial, 56 (33.5%) viral and 15 (9%) fungal. Multilogistic regression analysis showed that the need of immunosuppressive switch increased total, bacterial, and viral infection risk 5.3, 2.5, and 2.5 times, respectively, (p=0.001, p=0.021, and p=0,019, respectively). Re-LT increased bacterial infection risk 4.2 times (p=0.040). Viral infection risk was 10 times higher in children who had more than two re-laparotomies (p=0,002). Children who had post-LT, cytomegalovirus (CMV) infection had 5.6 times increased risk for fungal infection (p=0.035). In conclusion, infection is still an important morbidity in paediatric LT and is in close relationship with other morbidities such as surgical complications. CMV infection, itself, is an independent risk factor for fungal infection.

Aim: Nutritional status was accepted as a prognostic marker in children with chronic liver disease. In the literature, we aimed to retrospectively investigate 94 Wilson patients followed in our center due to the lack of studies investigating the frequency and prognostic effects of malnutrition and micronutrient deficiency in Wilson's patient., Material and Methods: Our studies included 94 Wilson's disease children in the Department of Child Gastroenterology, Hepatology and Nutrition of Inonu University Faculty of Medicine between 2006-2017. Presentation patterns, anthropometric measurements, laboratory findings and prognostic factors of these patients were analyzed retrospectively., Results: The mean age of the patients was 9.11±3.2 (3.5-17) and the female/male ratio was 40/54. Mean age was lower in asymptomatic patients (p=0.000). According to all parameters, malnutrition was detected in 43 patients (45.7%). Fulminant Wilson's disease had higher height and weight z scores than nerowilson patients (p=0.045, p=0.019, respectively). Hypocalcemia, hypophosphatemia, hypouricemia, hypoalbuminemia and anemia were more common in patients with cholestasis than without cholestasis (p<0.001). Vitamin A and E are lower in patients with cholestasis than without cholestasis (p<0.05). Hypocalcemia, hypophosphatemia and hypo-uricemia were found higher in the fulminant group (p<0.001). According to mortality scores (Dhawan, Model for end-stage liver disease and Child-Pugh). In patients with high mortality, height Z score was found to be high (p<0.05)., Conclusion: In Wilson's disease assessment of growth, detailed anthropometric measurements as well as vitamin, trace elements and electrolytes should be closely monitored., Competing Interests: Conflict of Interest: The authors have no conflicts of interest to declare., (Copyright: © 2019 Turkish Archives of Pediatrics.)

Objectives: Wilson's disease (WD) is a metabolic disorder leading to hepatic and extrahepatic copper deposition. Several studies have reported that besides copper (Cu), iron (Fe) and zinc (Zn) are also accumulated at varying levels in various tissues in WD. However, there is not an adequate number of studies investigating the effects of Fe and Zn status on WD presentation and prognosis. We aimed to evaluate serum levels of ferritin (SFr), copper (SCu), and zinc (SZn) in WD and determine their role in disease presentation and prognosis., Materials-Method: We retrospectively reviewed the medical records of 97 pediatric patients with WD who were diagnosed and followed at İnönü University Pediatric Gastroenterology, Hepatology and Nutrition Department between January 2006 and May 2017. Serum Cu and Zn levels were analyzed by using flame atomic absorption spectrophotometer. Ferritin was analyzed by chemiluminescence immunoassay method., Results: Analysis of serum levels of the elements according to the type of presentation, there was no significant difference between the groups for ceruloplasmin. However, SCU, FSCu, SFr and 24 h urinary copper levels were significantly higher (p = 0.002, p = 0.003, p = 0.023 and p < 0.001, respectively) and SZn and CSZn levels were significantly lower (fulminant WD). p < 0.001, p < 0.001). There was a positive correlation between SFr, SCu serum levels and mortality scores (respectively, r: 0.501, 0.564 for PELD, r:0.490, 0.504 for MELD, r: 0.345, 0.374 for Dhwan), and a negative correlation between SZn level and mortality scores. (r:-0.650 for PELD, r:-0.703 for MELD, r:-0.642 for Dhwan) We used the ROC curves to determine the worst prognosis for fulminant Wilson disease. According to these limit values, we found that the sensitivity and specificity of FWD development was significantly higher. (for SZn sensitivity of 91.5%, a specificity of 100%, p=<0,001, for SCu predicted FWD development with a sensitivity of 100%, a specificity of 73.7%, p=<0,001, for SFr predicted FWD development with a sensitivity of 92.9%, a specificity of 66.2%, p < 0,001) CONCLUSION: Our study suggests that SFr, SCu, SZn levels might have prognostic importance for WD., (Copyright © 2019 Elsevier GmbH. All rights reserved.)

Background: Wilson's disease (WD) may present with different manifestations: from an asymptomatic state to liver cirrhosis. Here, we aimed to evaluate clinical presentations and laboratory findings and prognoses among WD cases., Design and Setting: Cross-sectional study based on patients' records from the university hospital, İnönü University, Malatya, Turkey., Methods: The medical records of 64 children with WD were evaluated focusing on the clinical, laboratory and liver biopsy findings in different clinical presentations., Results: The mean age at diagnosis was 8.6 ± 3.26 years (range 3.5-17) and mean length of follow-up was 2.49 years (range 0-9). There were 18 cases (28.1%), 12 (18.8%), 9 (14.1%) and 6 (9.4%) of chronic liver disease, fulminant liver failure, neurological WD and acute hepatitis, respectively. Nineteen (29.7%) were asymptomatic. The most common sign and laboratory finding were jaundice (45.3%) and hypertransaminasemia (85.9%), respectively. The lowest serum zinc level was found in the fulminant liver failure group (P = 0.035). Hepatosteatosis was detected in 35% of the 20 patients who underwent liver biopsy. Among those with hepatosteatosis, 57.1% were asymptomatic. While 35% had copper staining, 25% presented iron accumulation in liver biopsies. Nine cases underwent liver transplantation and seven of these presented fulminant liver failure (77.8%)., Conclusion: The presentation, symptoms and signs of our cases were similar to those in previously reported series, except for the high proportion of fulminant WD cases. Further studies are needed to clarify the relationship between zinc levels and development of a fulminant course and between iron status and WD.

A wandering spleen is a rare condition characterized by the malposition of the spleen due to laxity or absence of its supporting ligaments. Although Gaucher disease generally presents with massive splenomegaly, which one of the predisposing causes of a wandering spleen, literature shows only one report of a wandering spleen in a child with Gaucher disease. In this case presentation, a 13-year-oldadolescent with Gaucher disease on enzyme replacement treatment was presented, who was detected having an abdominal mass on a routine visit and diagnosed with partial torsion of a wandering spleen associated with left lobe hypoplasia of the liver.