Does Liver Transplant Improve Neurological Symptoms in Wilson Disease? Report of 24 Cases.

OBJECTIVES: Wilson disease is an inherited disorder that results in copper accumulation in the tissues with liver injury and failure. Orthotopic liver transplant is one of the treatments of choice for this disease. The aim of this study was to compare the neurological symptoms, before and after orthotopic livertransplant, of patients with liver cirrhosis due to Wilson disease, who represent a special group of patients with liver failure. MATERIALS AND METHODS: Between 2007 and 2020, there were 24 patients with Wilson disease resistant to medical treatment who underwent deceased donor orthotopic livertransplant and were followed up for 1 year, 5 years, and 10 years for evaluation with neurological scoring systems. Patients were also evaluated for postoperative complications and survival. RESULTS: Of the 24 patients evaluated, there were 13 (54.2%) female patients and 11 (45.8%) male patients, and the mean age was 34 years (range, 14-57 years). One of the patients died from early postoperative sepsis. After orthotopic livertransplant, disease scores returned to normal in 16 patients and improved in the remaining patients. Before transplant, all patients required help in their daily activities. After transplant, there were significant improvements in some symptoms, and the patients became more independent in their daily lives. CONCLUSIONS: Our study shows that orthotopic liver transplant provides significant improvement in neurological symptoms and quality of life in patients with Wilson disease.

Multichannel Intraluminal Impedance and pH Monitoring are Complementary Methods in the Diagnosis of Gastroesophageal Reflux Disease in Children.

OBJECTIVE: Gastroesophageal reflux is considered to be a disease when reflux of gastric contents causes troublesome symptoms in infants and children. The aim of this study was to compare the diagnostic value of the multichannel intraluminal impedance monitoring and only pH monitoring in the diagnosis of gastroesophageal reflux disease in infants and children. MATERIALS AND METHODS: This prospective cross-sectional study consisted of pediatric patients aged between 1 month and 18 years old with symptoms suggestive of gastroesophageal reflux disease. Patients were divided into 2 groups as younger than 24 months (group 1) and older than 24 months (group 2). Twentyfour hours multichannel intraluminal impedance-pH monitoring was performed on the patients. RESULTS: This study included 50 pediatric patients. The mean age of the patients was 5.35 ± 4.92 years. In group 1, total reflux events were fewer than group 2 (P = .03) by pH monitoring. In group 1, the number of non-acid reflux events was higher than in group 2 and in group 2, the number of acidic reflux events was higher than group 1 (P = .04). Reflux was detected by multichannel intraluminal impedance-pH monitoring in 13 (40%) of 32 patients who were assessed as negative by pH monitoring. CONCLUSION: It was concluded that more reliable results were obtained when the 2 methods were used together in this study.

Turkish Translation, Validation, and Reliability Analysis of Pediatric Eosinophilic Esophagitis Symptom Severity Module Version 2.0.

The Paediatric Eosinophilic Esophagitis Symptom Severity Modules Version 2.0 (T-PEESv2.0) was developed in English as a valid, reliable questionnaire for follow up. This work aimed to develop a Turkish version of T-PEESv2.0 via translation and cultural adaptation and then to test its validation and reliability. Methods: The PEESv2.0 was translated into Turkish by standardized procedural steps completed in cooperation with the Mapi Research Trust. The final version of the questionnaire was submitted to eosinophilic oesophagitis patients or their parents at 2 times point separated by 1 week. An age-matched control group was used to test the discriminant validity. Construct validity was tested using the Wilcoxon test, and internal consistency was tested using Cronbach's alpha. Test-retest reliability was measured with Cohen's kappa and intraclass correlation coefficient. Results: One hundred twenty-eight participants (70 patients, 58 parents) were enrolled. Fifty-eight (39.1%) of them completed T-PEESv2.0-parent by proxy and 70 (54.7%) were T-PEESv2.0. The Cronbach's alpha coefficient and intraclass correlation coefficient for test-retest reliability were >0.70 for both questionnaires and for all domain (frequency and severity) and total scores. For discriminant validity analysis, subscale (frequency and domain) and total scores of the patient group were compared with those of the control group. The subscale and total scores were significantly different between the groups (P < 0.05). Conclusion: T-PEESv2.0 appeared to be valid and reliable, ready to be introduced as a clinical and research tool for the assessment of patients with eosinophilic oesophagitis.

Liver Involvement in Congenital Hypopituitarism.

OBJECTIVE: Cholestatic jaundice in early infancy is a complex diagnostic challenge. Cholestasis caused by endocrine disease is rare and poorly recognized. The aim of this paper is to report patients with liver dysfunctions resulting from hypopituitarism. METHODS: Six patients with liver dysfunction diagnosed as hypopituitarism were studied and followed up at Uludag University Faculty of Medicine. RESULTS: The median age of the patients at first presentation was 2.5 mo. Three patients were diagnosed with congenital hypopituitarism at the first visit, and the other three were diagnosed during follow-up. Serum aminotransferase levels were very high in two patients and only moderately elevated in the others. Combined adrenal, thyroid, and growth hormone deficiencies were diagnosed in two patients, while remaining 4 patients had various combinations of adrenal, thyroid, and growth hormone deficiencies. Liver function abnormalities resolved between 10 d and 2 mo follow-up after hormone replacement therapy. CONCLUSIONS: Abnormal liver biochemical test results due to hormonal deficiencies in infants should be considered in the differential diagnosis by pediatricians. Hormone replacement therapy is the basis of treatment.

Helicobacter pylori Infection in Children: Nutritional Status and Associations with Serum Leptin, Ghrelin, and IGF-1 Levels.

BACKGROUND: Helicobacter pylori is associated with gastrointestinal diseases such as gastritis, peptic ulcers, malignancy and lymphoma, and extra-gastrointestinal conditions. H. pylori infection is negatively associated with children's growth. Chronic inflammation of the stomach that results in the loss of appetite and, dysregulation of neuroendocrine hormones such as leptin, and ghrelin are the probable reasons of this negative association. The objective of this study is to determine the serum levels of leptin, ghrelin, and IGF-1 in H. pylori-infected children and their relations with growth. MATERIALS AND METHODS: A hundred and sixty-one school children aged between 6 and 14 years were selected randomly from five primary schools representing a cross section of population. Demographic and sociocultural characteristics, and anthropometric measurements were recorded. Serum H. pylori IgG, insulin-like growth factor-1, leptin, and ghrelin levels were measured in all children. The children were grouped according to the nutritional status and Helicobacter pylori seropositivity. Nutritional indices were compared among groups in association with serum leptin, ghrelin, and insulin-like growth factor-1 levels. RESULTS: H. pylori IgG positivity was found in 34.2%, and 14.9% of children were malnourished. H. pylori seropositivity was significantly higher in older ages (10.32 ± 2.26 vs 9.53 ± 2.36 years, p = .036), and body weight and height Z scores were significantly lower in H. pylori-seropositive children (-0.33 ± 1.08 vs 0.04 ± 1.26, p = .044 and 0.13 ± 0.92 vs 0.23 ± 0.91, p = .018 respectively). H. pylori seropositivity was found to be an independent risk factor for shorter body height (p = .01). Serum leptin, ghrelin, and IGF-1 levels were not associated with H. pylori IgG seropositivity (0.35 vs 0.55 ng/mL, p = .3; 3267.4 ± 753.0 vs 2808.3 ± 911.4 pg/mL, p = .06; 470 ± 176 vs 521 ± 179 ng/mL, p = .32, respectively). CONCLUSIONS: Children infected with H. pylori are prone to short stature. This effect seems to be independent of neuroendocrine hormones.

The diagnostic value of endoscopic narrow band imaging in helicobacter pylori gastritis in children.

BACKGROUND/AIMS: In this study we aimed to investigate the sensitivity and specificity of Narrow Band Imaging (NBI) in H. pylori gastritis and compare them with those of rapid urease test and urea breath test. MATERIALS AND METHODS: A hundred sixty-five children who admitted to Uludag University Pediatric Gastroenterology Unit between October 2009-March 2011 with upper gastrointestinal symptoms were consecutively enrolled. During the endoscopy procedure gastric corporeal, antral and fundal images were obtained, afterwards the same areas were visualized with narrow band imaging and images were recorded again. RESULTS: The study included 68 (41.2%) boys and 97(58.8%) girls. The mean age of the patients were 11.88±4.55. Tissue culture positivity and/or histopathological staining for H. pylori was determined in 56 (33.9%) patients (Group 1) and the other patients (n:109, 43.6%) didn't have an evidence of H. pylori infection (Group 2). Narrow band images have supported H. pylori infection in 56.4%. The sensitivity of narrow band images for determining H. pylori infection was 92.86% (95% CI 82.7-98), specificity was 62.39% (95% CI 52.6-71.5). CONCLUSION: Our study is the first to show the role of NBI in diagnosing H. pylori infection in children, as well as determining the sensitivity and specificity of the technique. The specificity is low; however, we suggest that the specific mucosal view of H. pylori gastritis provided by NBI is useful for identifying the areas from which the biopsies should be taken. Moreover, by using this technique, treatment of H. pylori infection may be initiated immediately without performing rapid urease test and without waiting for histopathology report and tissue culture.

Acquired generalized lipodystrophy associated with autoimmune hepatitis and low serum C4 level.

Lipodystrophies are a group of diseases characterized by loss of fat tissue and are associated with insulin resistance. A six-year-old girl followed with the diagnosis of autoimmune hepatitis showed a severe loss of fat tissue, hyperinsulinemia, impaired glucose tolerance, hypertriglyceridemia and low serum complement 4 (C4) levels. She had coarse facial features with generalized loss of subcutaneous fat and prominent muscularity. Remarkable acanthosis nigricans was present over the neck, axilla, and umbilicus. Two hours after glucose loading, the glucose tolerance test revealed a glucose level of 258 mg/dL, a HbA1c value of 6.8%, and an insulin level of 642.9 mIU/mL, documenting a state of insulin resistance and type 2 diabetes mellitus. Acquired generalized lipodystrophy was diagnosed and metformin with dietary intervention was initiated. Low serum complement levels proved the autoimmune nature of the process. We conclude that the serum complement levels must be investigated in patients with acquired lipodystrophy, particularly when it is associated with autoimmune hepatitis.

Antiviral therapy in neonatal cholestatic cytomegalovirus hepatitis.

BACKGROUND: Neonatal hepatitis refers to a heterogeneous group of disorders, caused by many factors including cytomegalovirus infection, revealing similar morphologic changes in the liver of an infant less than 3 months of age. Approximately 40% of cholestasis in infants is due to neonatal hepatitis. It may cause latent or acute cholestatic or chronic hepatitis, including cirrhosis in immunocompetant infant. METHODS: Twelve infants diagnosed with neonatal cytomegalovirus hepatitis in the last one year were included in the study. Group 1 consisted of seven babies treated with ganciclovir for 21 days. Group 2 included five cases who did not receive antiviral treatment. Physical examination, biochemical, serologic and virologic tests were done for both groups at the time of diagnosis and in the third month. RESULTS: Initial levels of total bilirubin, aminotransferases, gamma glutamyl transpeptidase, and alkaline phosphatase revealed a significant decrease after the treatment in Group 1 (p < 0.05) when compared with Group 2. This study revealed that ganciclovir treatment is a safe and effective in cases with cholestatic hepatitis. Similarly, all the patients in the treatment group had evidence of improvement serologically and virologically, while the comparison group did not reveal any significant change(p < 0.01). CONCLUSION: The clinical spectrum of perinatal infection varies from an asymptomatic infection or a mild disease to a severe systemic involvement, including central nervous system. The treatment in the early period of infection improved serologic markers and cholestatic parameters significantly. Further studies will lead us to clarify the efficacy of ganciclovir treatment in the early period of cytomegalovirus hepatitis, and the preventive role of anti-viral therapy on progressive liver disease due to cholestasis and hepatitis in neonatal cytomegalovirus infection.