Biliary atresia and congenital disorders of the extrahepatic bile ducts.

Biliary atresia (BA) and choledochal cysts are diseases of the intrahepatic and extrahepatic biliary tree. While their exact etiopathogeneses are not known, they should be treated promptly due to the potential for irreversible parenchymal liver disease. A diagnosis of BA may be easy or complicated, but should not be delayed. BA is always treated surgically, and performing the surgery before the age of 2 mo greatly increases its effectiveness and extends the time until the need for liver transplantation arises. While the more common types of choledochal cysts require surgical treatment, some can be treated with endoscopic retrograde cholangiopancreatography. Choledochal cysts may cause recurrent cholangitis and the potential for malignancy should not be ignored.

Evaluation of pancreatic functions in cases of primary and secondary malnutrition.

BACKGROUND: This study assessed pancreatic functions by investigating fecal elastase-1 (FE-1) levels in stool specimens in children with primary and secondary malnutrition. METHODS: A total of 139 malnourished children who were hospitalized and followed up at a tertiary care pediatrics clinic and 23 healthy children with no known systemic disease or malnutrition were included in this study. Malnourished patients were divided into four groups according to underlying diagnosis including primary malnutrition (N.=51), cystic fibrosis (N.=44), celiac disease (N.=12) and secondary malnutrition (N.=32; remaining patients with various diagnoses). Patient's demographic characteristics and laboratory data were investigated. FE-1 levels of the patients and healthy subjects were evaluated. RESULTS: FE-1 levels in patients with cystic fibrosis, primary malnutrition, and celiac disease, and other patients with secondary malnutrition were significantly lower than those in the control group. CONCLUSIONS: Pancreatic enzymes are used due to pancreatic failure in cases of cystic fibrosis, and patients benefit considerably from treatment. This study shows that pancreatic failure may also occur in cases of primary and secondary malnutrition apart from cystic fibrosis, emphasizing the likelihood of pancreatic enzyme support to be useful in terms of pancreatic failure developing secondarily in cases of primary malnutrition.

Assessment of hepatic involvement by two-dimensional shear wave elastography in paediatric patients with cystic fibrosis.

AIM: This study aimed to investigate parenchymal changes in the liver in paediatric patients with cystic fibrosis (CF) and to analyse diagnostic performance of two-dimensional shear wave elastography (2D-SWE) for the detection of hepatic involvement. METHODS: Patients with CF treated and followed at our centre were evaluated prospectively. All patients underwent liver tissue stiffness (TS) measurements by 2D-SWE, in addition to routine clinical assessments, laboratory work-up and abdominal ultrasound imaging. Data from patients with CF were compared with healthy control subjects. RESULTS: This study included 39 patients with CF and 37 healthy controls. Patients had a mean body weight of 29.9 (16.6-55) kg, mean age of 9 (5-17) years, mean height of 130 (107-172) cm and a mean body mass index of 16.1 (12.8-21.4) kg/m2 . Average SWE values of the liver were 1.02 (0.70-1.60) m/s in patients with CF (n = 39) and 0.89 (0.60-1.35) m/s in healthy controls (n = 37). Cystic fibrosis patients had significantly increased tissue stifness by liver elastography compared to controls (P = 0.005). CONCLUSION: Parenchymal liver changes may occur early in cystic fibrosis, which cannot be detected by conventional ultrasonography but may be demonstrated by 2D-SWE. Based on this cross-sectional study, 2D-SWE may be a promising, simple and non-invasive modality for objective monitoring of patients with cystic fibrosis who require lifelong follow-up, by providing numerical data for tissue stiffness early in the disease.

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

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

Gastroesophageal reflux with children requiring adenotonsillectomy.

BACKGROUND: Our aim is to determine the incidence of reflux in children older than 3 years requiring adenotonsillectomy and relationship between GER and diagnostic tests. METHODS: Forty-four patients, who were listed for adenoidectomy/tonsillectomy at Pediatric Ear Nose Throat department due to severe hypertrophy, were evaluated for accompanying GER (Group 1). GER was diagnosed as having at least one positive GER test result (including esophagitis or pH monitoring). Twenty children without reflux symptoms were used as healthy control group (Group 2) and LPR was held. RESULTS: Reflux was detected in 32 children requiring adenotonsillectomy (72.7%). LPR score was negative in all patients in Group 2. There was no correlation between pH monitoring and histopathological evaluation of esophagus. There was a correlation between the LPR score and histological esophagitis in the proximal esophagus. CONCLUSIONS: GER was high in patients with adenotonsillary hypertrophy. LPR score and the history of patients are as effective as invasive techniques like pH monitorization and endoscopy in determining GER disease.

A comparative study of the pancreas in pediatric patients with cystic fibrosis and healthy children using two-dimensional shear wave elastography.

PURPOSE: To compare sonographic parameters of the pancreas between healthy children and pediatric cystic fibrosis (CF) patients with pancreatic involvement using shear wave elastography (SWE) and to investigate the efficacy of SWE in the diagnosis of pancreatic involvement in pediatric CF patients. METHODS: The pancreas was evaluated in 38 patients with CF and 38 healthy children using conventional B-mode ultrasonography (US) and two-dimensional (2D)-SWE. RESULTS: The pancreatic 2D-SWE values of the CF group were significantly lower than those of the healthy control group (1.01 ± 0.16 vs. 1.31 ± 0.01 m/s for the head, 1.03 ± 0.05 vs. 1.28 ± 0.08 m/s for the pancreatic body, and 1.02 ± 0.05 vs. 1.30 ± 0.10 m/s for the tail; p < 0.005 for all the comparisons). When the threshold values were obtained for the pancreatic head, body, and tail segments for the differentiation of the CF patients and healthy controls, the sensitivity of the test was determined as 81.5%, 76.3%, and 73.3%, respectively, and the specificity as 97.3%, 100%, and 100%, respectively. When the patients were divided into two groups based on the presence of B-mode US characteristics (homogeneity, sharp demarcation, and hyperechoic pancreas), there was a significant difference in the 2D-SWE values of the pancreatic head between the patients with and the patients without these characteristics (p = 0.048 for homogeneity, p = 0.021 for sharp demarcation, and p = 0.006 for hyperechoic pancreas). CONCLUSION: The measurement of 2D-SWE values was found to be an easily applicable non-invasive test with high sensitivity and specificity for the demonstration of changes in the pancreas of pediatric CF patients.

The Effect of Enteral Nutrition Support Rich in TGF-ß in the Treatment of Inflammatory Bowel Disease in Childhood.

Background and Objective: Malnutrition is a major complication of inflammatory bowel disease (IBD). Our aim of the study was to examine the effects of Modulen IBD supplementation, which was administered to IBD patients without limiting their daily diet in addition to medical treatment, on the clinical, laboratory, anthropometric values, and disease activities of these patients. Materials and Methods: Seventy three children with IBD were evaluated retrospectively. The cases were classified as those who had Crohn disease receiving (CD-M; n = 16) or not receiving Modulen IBD (CD; n = 19) and those who had ulcerative colitis receiving (UC-M; n = 13) or not receiving Modulen IBD (UC; n = 25). Disease activities, laboratory values, remission rates, and anthropometric measurements of the groups were compared. In addition to IBD treatment, Modulen IBD in which half of the daily calorie requirement was provided was given for eight weeks. Results: In the third month of treatment, 14 (88%) patients were in remission in CD-M group and eight (42%) patients were in remission in CD group. The height and weight z scores, which were low at the time of diagnosis, improved in the first week in CD-M group. Inflammatory parameters (UC) were significantly lower in the UC-M group compared to the UC group in first and third months. In the third month, eight (62%) patients in the UC-M group and four (16%) in the UC group were remitted clinically and in terms of laboratory values. Conclusions: TGF-ß-rich enteral nutrition support in children with IBD is an easy, effective, and reliable approach. It was shown that TGF-ß-rich enteral nutritional supplementation enabled the disease to enter the remission earlier, and contributed to the early recovery of weight and height scores.

Remifentanil-ketamine vs. propofol-ketamine for sedation in pediatric patients undergoing colonoscopy: A randomized clinical trial / Remifentanil-cetamina vs. propofol-cetamina para sedação em pacientes pediátricos submetidos à colonoscopia: ensaio clínico randômico

Abstract Background and objectives: Pediatric patients frequently require deep sedation or general anesthesia for colonoscopy. This study was designed to compare the sedative efficacy of remifentanil-ketamine combination with propofol-ketamine combination in children undergoing colonoscopy. Methods: Seventy patients, between 2 and 16 years of age, scheduled for diagnostic colonoscopy were randomly allocated into two groups. Remifentanil-ketamine group received intravenous ketamine 2 mg.kg−1 and remifentanil 0.25 µg.kg−1 combination, followed by 0.1 µg.kg−1.min−1 remifentanil infusion. Propofol-ketamine group received intravenous propofol 1 and 2 mg.kg−1 ketamine combination, followed by 1 mg.kg−1.h−1 propofol infusion. In the case of children discomfort (cry, movement, and cough), remifentanil 0.1 µg.kg−1 in the remifentanil-ketamine group or propofol 0.5 mg.kg−1 in the propofol-ketamine group were administered to improve children discomfort. Despite the therapy given above, if children still experience discomfort, 1 mg.kg−1 of ketamine was administered as a rescue drug, regardless of the group. Ramsay sedation score, hemodynamic variables, drug requirements, gastroenterologists' satisfaction, colonoscopy duration, recovery time, and side effects were recorded throughout the procedure and the recovery period. Results: The percentage of patients with a Ramsay sedation score of 4 or higher during the procedure was 73.5 and 37.1% in remifentanil-ketamine and propofol-ketamine groups, respectively (p = 0.02). Systolic and diastolic blood pressure variables were significantly higher only after induction in the remifentanil-ketamine group than in the propofol-ketamine group (p = 0.015). Conclusion: Coadministration of ketamine with either remifentanil or propofol effectively and safely provides sedation and analgesia in children undergoing colonoscopy. Sedation scores were significantly better in remifentanil-ketamine group than in propofol-ketamine group.

Resumo Justificativa e objetivos: Os pacientes pediátricos com frequência precisam de sedação profunda ou anestesia geral para colonoscopia. Este estudo foi desenhado para comparar a eficácia sedativa da combinação de remifentanil-cetamina e de propofol-cetamina em crianças submetidas à colonoscopia. Métodos: Setenta pacientes, entre 2-16 anos, programados para colonoscopia diagnóstica foram alocados randomicamente em dois grupos. O grupo remifentanil-cetamina recebeu a combinação de 2 mg.kg−1 de cetamina por via intravenosa e 0,25 µg.kg−1 de remifentanil; seguido de infusão de remifentanil (0,1 µg.kg−1.min−1). O grupo propofol-cetamina recebeu a combinação de 1 mg.kg−1 de propofol e 2 mg.kg−1 de cetamina; seguido de infusão de propofol (1 mg.kg−1.h−1). Em caso de desconforto das crianças (choro, movimento e tosse), remifentanil (0,1 µg.kg−1) seria administrado ao grupo remifentanil-cetamina ou propofol (0,5 mg.kg−1) ao grupo propofol-cetamina. A despeito da terapia acima citada, caso as crianças ainda sentissem desconforto, cetamina (1 mg.kg−1) seria administrada como fármaco de resgate, independentemente do grupo. Escore de sedação de Ramsay, variáveis hemodinâmicas, necessidade de medicamentos, satisfação dos gastroenterologistas, duração da colonoscopia, tempo de recuperação e efeitos colaterais foram registrados durante o procedimento e o período de recuperação. Resultados: O percentual de pacientes com escore 4 ou mais na escala de sedação de Ramsay durante o procedimento foi de 73,5% e 37,1% nos grupos remifentanil-cetamina e propofol-cetamina, respectivamente, (p = 0,02). As variáveis, pressão arterial sistólica e diastólica, foram significativamente maiores no grupo remifentanil-cetamina do que no grupo propofol-cetamina, mas somente após a indução (p = 0,015). Conclusão: A coadministração de cetamina com remifentanil ou propofol fornece sedação e analgesia de forma eficaz e segura em crianças submetidas à colonoscopia. Os escores de sedação foram significativamente melhores no grupo remifentanil-cetamina do que no grupo propofol-cetamina.

Endoscopic findings in patients with familial Mediterranean fever and dyspeptic symptoms.

AIM: The aim of the study was to evaluate the clinical, endoscopic, histopathological, laboratory, and imaging findings of patients with familial Mediterranean fever (FMF) presenting with dyspeptic symptoms. MATERIAL AND METHODS: Endoscopy was performed in 28 patients with FMF undergoing colchicine therapy, who presented to our hospital between 2012 and 2014 with abdominal pain, diarrhoea, and dyspeptic complaints. Upper gastrointestinal system endoscopy was performed in all patients; 16 of these underwent colonoscopy. Demographic characteristics, clinical and laboratory data, genetic analysis, imaging data, and endoscopy and colonoscopy findings were evaluated in all patients. RESULTS: Histopathological analysis of biopsy specimens revealed gastrointestinal pathology in 21 (75%) patients. Upper endoscopy analysis revealed that 14 (50%) patients had antral gastritis (8 Helicobacter pylori (-) antral gastritis and 6 H. pylori (+) chronic active gastritis) and 2 (7%) cases had giardiasis. Four antral gastritis cases had concomitant esophagitis, and 2 patients had widespread ulcers in the terminal ileum. The rest had a normal colonic appearance; however, three patients with normal colonoscopic findings were found to have chronic active colitis on histopathological examination. CONCLUSIONS: In this study, most patients with FMF presenting with dyspeptic complaints had gastrointestinal pathology. Furthermore, there was higher inflammatory bowel disease incidence in these patients.

[Remifentanil-ketamine vs. propofol-ketamine for sedation in pediatric patients undergoing colonoscopy: A randomized clinical trial]. / Remifentanil­cetamina vs. propofol­cetamina para sedação em pacientes pediátricos submetidos à colonoscopia: ensaio clínico randômico.

BACKGROUND AND OBJECTIVES: Pediatric patients frequently require deep sedation or general anesthesia for colonoscopy. This study was designed to compare the sedative efficacy of remifentanil-ketamine combination with propofol-ketamine combination in children undergoing colonoscopy. METHODS: Seventy patients, between 2 and 16 years of age, scheduled for diagnostic colonoscopy were randomly allocated into two groups. Remifentanil-ketamine group received intravenous ketamine 2mg.kg-1 and remifentanil 0.25µg.kg-1 combination, followed by 0.1µg.kg-1.min-1 remifentanil infusion. Propofol-ketamine group received intravenous propofol 1 and 2mg.kg-1 ketamine combination, followed by 1mg.kg-1.h-1 propofol infusion. In the case of children discomfort (cry, movement, and cough), remifentanil 0.1µg.kg-1 in the remifentanil-ketamine group or propofol 0.5mg.kg-1 in the propofol-ketamine group were administered to improve children discomfort. Despite the therapy given above, if children still experience discomfort, 1mg.kg-1 of ketamine was administered as a rescue drug, regardless of the group. Ramsay sedation score, hemodynamic variables, drug requirements, gastroenterologists' satisfaction, colonoscopy duration, recovery time, and side effects were recorded throughout the procedure and the recovery period. RESULTS: The percentage of patients with a Ramsay sedation score of 4 or higher during the procedure was 73.5 and 37.1% in remifentanil-ketamine and propofol-ketamine groups, respectively (p=0.02). Systolic and diastolic blood pressure variables were significantly higher only after induction in the remifentanil-ketamine group than in the propofol-ketamine group (p=0.015). CONCLUSION: Coadministration of ketamine with either remifentanil or propofol effectively and safely provides sedation and analgesia in children undergoing colonoscopy. Sedation scores were significantly better in remifentanil-ketamine group than in propofol-ketamine group.

Frequency of Celiac Disease in Children with Peptic Ulcers.

AIM: The aim of the present study is to investigate the frequency of celiac disease in children with peptic ulcers and to compare it with that of non-celiac peptic ulcers in terms of clinical and laboratory values. METHODS: Upper gastrointestinal endoscopy was performed in 1769 patients at the Department of Pediatric Gastroenterology, The Faculty of Medicine, Cukurova University, Turkey, between January 2012 and January 2017. These cases consisted of subjects presenting with various GIS symptoms and indicated for endoscopy (with chronic diarrhea, delayed growth and development, abdominal pains, GIS bleeding, etc.). The levels of immunoglobulin A (IgA) serum anti-tissue transglutaminase antibodies, IgA anti-endomysial antibodies (EMA), and IgA serum were estimated in the patients with peptic ulcers. RESULTS: Celiac disease was diagnosed with serology, endoscopy, and histopathology in 250 (14%) of all cases undergoing endoscopy. Peptic ulcers were diagnosed in 74 patients (4.2%) of all cases undergoing endoscopy. tTGA and EMA (+) levels were determined in 22 (29%) of the 74 patients with peptic ulcers, and then the presence of peptic ulcers was investigated in the upper gastrointestinal system using gastrointestinal endoscopy, followed by histopathological confirmation of celiac disease. HP infection was present in 14 (63%) of the patients with celiac disease and in 23 (44%) of non-celiac peptic ulcers; the difference was not statistically significant (p = 0.12). In the total ulcer group, 10.8% (8/74) of patients with celiac peptic ulcers were negative for HP infection, whereas 21% (8/37) of HP-negative patients with ulcers had celiac disease. CONCLUSION: There exists a high risk of celiac disease in children with peptic ulcers. We thus recommend celiac disease to be investigated, particularly in HP-negative patients with peptic ulcers but with no history of NSAID use.

Etiology and Outcome of Cholelithiasis in Turkish Children.

OBJECTIVE: The aim of this study was to examine the etiology of gallstones in children and responses to ursodeoxycholic acid (UDCA) treatment. METHODS: 74 children with cholelithiasis were recruited, and underwent ultrasonography to detect gallstones. All relevant clinical information was recorded in a structured proforma. RESULTS: The commonest risk factor was a family history of gallstones. Most children responded to UDCA treatment in the first six months; children with hemolytic diseases showed no response to UDCA. CONCLUSION: UDCA treatment may be useful before surgery in asymptomatic patients of cholelithiasis without hemolytic diseases.

Causa rara de distensión abdominal aguda: apertura del conducto pancreático en un quiste hidatídico / A rare cause of acute abdominal distention: opening of the pancreatic duct into hydatic cyst

Introducción. El quiste hidatídico, causado por Echinococcus granulosus, se observa mayormente en el hígado y los pulmones, aunque raramente también puede localizarse en cualquier órgano o tejido blando. En este artículo se presenta el caso de un paciente con quiste hidatídico pancreático con apertura del conducto pancreático en el quiste. A propósito de un caso: Se atendió en nuestra clínica a un niño de 10 años de edad con distensión abdominal significativa y dolor en el epigastrio de 10 días de evolución. La concentración de amilasa sérica era de 3709 U/l y la inhibición de la hemaglutinación para hidatidosis era de 1/160. En la tomografía computarizada de abdomen se observaron dos lesiones separadas y ascitis, un quiste hidatídico de tipo CE2 en la región de la cola del páncreas y un quiste hidatídico de tipo CE1 en el lóbulo izquierdo del hígado. Se realizó el drenaje percutáneo del quiste ubicado en la cola del páncreas y se inició tratamiento con albendazol. Se retiró la sonda de drenaje, y desde ese momento se ha realizado el seguimiento del paciente sin que se observen complicaciones.

Introduction. Hydatid cyst, which is caused by Echinococcus granulosus, is mostly seen in the liver and lungs although it may also rarely be found in any organ or soft tissue. This study presents an interesting case of pancreatic hydatid cyst in which the pancreatic duct opened into this cyst. Case report. A 10-year-old boy presented to our clinic with significant abdominal distension and pain in the epigastric region which had started 10 days previously. Serum amylase level was 3709 U/L and hemagglutination inhibition for hydatid disease was 1/160. At abdominal computed tomography, two separate lesions and ascites were determined, a CE2 hydatid cyst in the region of the tail of the pancreas and a CE1 hydatid cyst in the left lobe of the liver. Percutaneous drainage was applied to the cyst in the pancreatic tail, and the patient was started on albendazole. The drainage catheter was removed, and the patient has since been followed-up on an outpatient basis with no complications.

A rare cause of acute abdominal distention: opening of the pancreatic duct into hydatic cyst. / Causa rara de distensión abdominal aguda: apertura del conducto pancreático en un quiste hidatídico.

INTRODUCTION: Hydatid cyst, which is caused by Echinococcus granulosus, is mostly seen in the liver and lungs although it may also rarely be found in any organ or soft tissue. This study presents an interesting case of pancreatic hydatid cyst in which the pancreatic duct opened into this cyst. CASE REPORT: A 10-year-old boy presented to our clinic with significant abdominal distension and pain in the epigastric region which had started 10 days previously. Serum amylase level was 3709 U/L and hemagglutination inhibition for hydatid disease was 1/160. At abdominal computed tomography, two separate lesions and ascites were determined, a CE2 hydatid cyst in the region of the tail of the pancreas and a CE1 hydatid cyst in the left lobe of the liver. Percutaneous drainage was applied to the cyst in the pancreatic tail, and the patient was started on albendazole. The drainage catheter was removed, and the patient has since been followed-up on an outpatient basis with no complications.

A Case Report of a Very Rare Association of Tyrosinemia type I and Pancreatitis Mimicking Neurologic Crisis of Tyrosinemia Type I.

BACKGROUND: Tyrosinemia type I is an autosomal recessively inherited metabolic disease of tyrosine metabolism due to the deficiency of fumarylacetoacetate hydrolase. Clinical manifestations include hepatic failure, cirrhosis, hepatocellular carcinoma, renal fanconi syndrome, and neurologic crisis. With the introduction of 2-(2-nitro-4-trifluoro-methylbenzyol)-1.3 cyclohexanedione (NTBC) treatment, the prognosis improved with reduced rate of complications. CASE REPORT: Here, we report a 6-year-old girl with tyrosinemia type I who discontinued NTBC treatment six months prior to admission, presenting with complaints of abdominal pain, vomiting, anorexia, weakness, and restlessness, suggesting the clinical status of neurologic crisis. Further laboratory and radiologic evaluation revealed that indeed this is a pancreatitis. CONCLUSION: We report this case as tyrosinemia type I and pancreatitis was reported only in one case in the literature, emphasizing confusing clinical signs of neurological crisis, and pancreatitis in tyrosinemia type I.

Clues to the diagnosis of biliary atresia in neonatal cholestasis.

BACKGROUND/AIMS: The purpose of this study was to identify important clues in differentiating biliary atresia (BA) from causes of neonatal cholestasis other than BA (non-BA) and establishing the reliability of current tests. MATERIALS AND METHODS: Thirty-four patients with BA and 27 patients with non-BA cholestasis being monitored at the Çukurova University Medical Faculty, the Pediatric Gastroenterology Department and the Pediatric Surgery Department between 2009 and 2015 were retrospectively assessed. RESULTS: Cases of early onset jaundice, acholic stool, gamma-glutamyl transferase (GGT) elevation, and absent or small gallbladder on ultrasonography (USG) were greater in the BA group, while the levels of consanguinity and splenomegaly were higher in the non-BA group. The highest positive predictive value and specificity was determined for a GGT level greater than 197 in addition to absent or small gallbladder on USG and acholic stool in the BA group. Moreover, the presence of acholic stool (97%) exhibited the highest sensitivity and accuracy in the diagnosis of BA. CONCLUSION: Pale stool, GGT elevation, and absent or small gallbladder on USG are the most reliable tests for diagnosing BA. We recommend that intraoperative cholangiography should be performed without waiting for further test results when a neonate or infant presents with acholic stool, high GGT values, and absent or small gallbladder on abdominal USG.

Inflammatory bowel disease in Turkish children.

BACKGROUND: This study was undertaken to evaluate demographics, clinical manifestations, laboratory findings and outcomes of children with inflammatory bowel disease (IBD) in Turkey. METHODS: We analyzed the medical records of 127 children diagnosed with IBD (under 18 years old) between January 2004 and January 2012 in 8 pediatric gastroenterology centers. RESULTS: Of the 127 patients, 90 (70.9%) suffered from ulcerative colitis (UC), 29 (22.8%) from Crohn's disease (CD), and 8 (6.3%) from IBD unclassified. The mean age of the 127 patients was 11.6 ± 4.1 years, and 11.8% of the patients were below 5 years old. Of the patients, 49.6% were male, and males were more predominant in patients with CD than in those with UC (72.4% vs. 42.2%, P = 0.008; a male/female ratio of 2.62 in CD, P = 0.0016). Approximately one fifth of the patients had extra-intestinal manifestations and 13.3% of the patients had associated diseases. Extraintestinal manifestations and associated diseases were more common in early onset disease [P = 0.017, odds ratio (OR) = 4.02; P = 0.03, OR = 4.1]. Of the patients, 15% had normal laboratory parameters including anemia, high platelet count, hypoalbuminemia, hypoferritinemia, and high sedimentation rate. Area under receiver operation characteristics was used to predict pancolitis in patients with UC. The values of C-reactive protein, sedimentation rate and pediatric ulcerative colitis activity were 0.61 (P = 0.06), 0.66 (P = 0.01) and 0.76 (P = 0.0001), respectively. Four (4.4%) patients with UC underwent colectomy, and finally two (1.5%, 95% confidence interval: 0-3.7%) patients died from primary disease or complications. CONCLUSIONS: IBD is an increasing clinical entity in Turkey. Features of IBD are similar to those in other populations, but prospective multicenter studies are needed to analyze the true incidence of IBD in Turkish children.

Cirrhosis and hepatopulmonary syndrome.

Hepatopulmonary syndrome (HPS) is characterized as a triad: liver disease, intrapulmonary vascular dilatation and arterial hypoxemia. HPS is reported to be present in 4% to 32% of adult patients with end-stage liver disease and in 9%-20% of children. The pathogenesis of HPS has not been clearly identified. Portal hypertension causes impairment in the perfusion of the bowel and increases the enteral translocation of Gram (-) bacteria and endotoxins. This stimulates the release of vasoactive mediators, such as tumor necrosis factor-alpha, heme oxygenase-derived carbon monoxide and nitric oxide. Genetic alterations have not been associated with this syndrome yet; however, cytokines and chemokines have been suggested to play a role. Recently, it was reported that cumulated monocytes lead to the activation of vascular endothelial growth factor-dependent signaling pathways and pulmonary angiogenesis, which plays an important role in HPS pathogenesis. At present, the most effective and only radical treatment is a liver transplant (LT). Cirrhotic patients who are on the waiting list for an LT have a shorter survival period if they develop HPS. Therefore, it is suggested that all cirrhotic cases should be followed closely for HPS and they should have priority in the waiting list.

A case of uneventful ABO-incompatible liver transplantation from a deceased donor managed with routine immunosuppressive treatment.

ABO-incompatible liver transplantation (ILT) was formerly contraindicated because of the increased risk of antibody-mediated humoral graft rejection due to preformed anti-A/-B antibodies on recipient endothelial cells. A 2.5-year-old girl with end-stage liver disease underwent cadaveric donation ILT because of acute liver failure and esophageal variceal bleeding before transplantation. The patient's blood type was A Rh (-) and the donor's blood type B Rh (+). The operation and postoperative course were uneventful. The immunosuppression consisted of steroids, and tacrolimus was initiated on the day of the surgery. The patient's hemoglobin level did not change, and direct Coombs test performed daily was consistently negative. Anti-B titer was observed at a maximum of 1/8. The patient was followed up during the first year. This case of ILT from a cadaveric donor is significant because the 2.5-year-old recipient did not experience any complications after undergoing routine immunosuppressive treatment.

Diagnosis of chromosomal abnormalities in a patient with thanatophoric dysplasia (TD) type I: The first report describing an important association between cytogenetic findings and TD.

BACKGROUND: Thanatophoric dysplasia (TD) is the most lethal and most severe type of dysplasia. It has distinct features, the most important of which is short tubular bones and short ribs with platyspondyly, allowing a precise radiologic and prenatal ultrasonographic diagnosis. It has been reported to be caused by mutations in the FGFR3 gene, but exactly how cytogenetic abnormalities might lead to TD is unclear. CASE REPORT: We report a case of TD with different prenatal sonographic features compatible with the classification of type I. In the result of cytogenetic examination, we found de novo CAs in 28% of cells analyzed from the affected infant; 75% of the abnormalities were numerical, and of those, 25% were structural aberrations; 21% of cells revealed predominantly numerical aberrations. Monosomy 18, 21 and 22 was observed in 4% of cells, monosomy 20 in 2%, and monosomy 7, 8, 14, 17 and 19 in 1%. Structural changes were observed in 7% of cells. CONCLUSIONS: It appears that these chromosomes may be preferentially involved in and important for TD development.