Is it possible to diagnose fulminant Wilson's disease with simple laboratory tests?

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.

Virulence factors and antibiotic resistance in children with Helicobacter pylori gastritis.

OBJECTIVES: There are limited data regarding the pattern of Helicobacter pylori (Hp) antibiotic resistance and virulence factors in children. Evaluation of prevalence of drug resistance and virulence-factor genotype in children with Hp gastritis and to investigate whether there is any relation between drug resistance and genotype were our aims in this study. METHODS: Ninety-eight children with polymerase chain reaction-positive Hp gastritis were included. Antimicrobial susceptibility was tested by disc diffusion method and polymerase chain reaction assays were used for the determination of virulence factors. RESULTS: The resistance rates to clarithromycin, metronidazole, and amoxicillin were 23.5%, 11.7%, and 3.9%, respectively. All strains carried vacA genotype, and 51%, 70.4%, 49%, 34.7%, and 25.5% were cagA-, cagE-, babA2-, iceA1-, and iceA2-positive, respectively. Of those 98 specimens, 81.6%, 19.4%, 38.8%, and 63.3% carried vacAs1, vacAs2, vacAm1, and vacAm2, respectively. Dominant vacA type was s1am2 (32.7%), followed by s1am1 (14.3%) and s2m2 (12.2%). Significant rates of clarithromycin resistance were observed in cagE-, iceA1-, babA2-, and vacAs1c-positive groups. In those with metronidazole resistance, vacAs1 and vacAs1c were more common (P < 0.05). CONCLUSIONS: The cagE-positive and vacA s1a/m2 genotypes, which are correlated with increased antibiotic resistance, were predominant in our population. In countries where Hp infection is prevalent, studies focusing on virulence factors and antibiotic susceptibility may provide anticipation of the prognosis and may be helpful to reduce morbidity and mortality.

Correlation of clinical, endoscopic, and histological findings with virulence factors in children with Helicobacter pylori gastritis.

BACKGROUND AND GOALS: As there are limited data regarding the correlation between virulence factors and clinical, endoscopic, and histological findings in children with Helicobacter pylori gastritis, we aimed to evaluate that probable relationship in pediatric cases. STUDY: One hundred and fifty-nine children with chronic abdominal pain or dyspepsia were included in this study. Upper gastrointestinal endoscopy was performed and multiple biopsy samples were taken from the esophagus, the antrum, and the duodenum. PCR was used for the determination of virulence factors. RESULTS: According to PCR analysis, 98 (61.6%) children were positive for H. pylori. Using histopathological examination and culture, H. pylori was detected in 65 (40.9%) and 51 (32.1%) children, respectively. Peptic ulcer prevalence and histopathological features were not different among cagA, cagE, or iceA1 positive and negative groups (P>0.05). Peptic ulcer prevalence and histopathological findings were more common in iceA2-positive patients (P<0.05). Antral nodularity was more common in cagA-positive patients (P<0.05). Endoscopic and histological features were not different among patients with or without m1 or m2 strains (P>0.05). S1b positivity was associated with a higher esophagitis rate (P<0.05). CONCLUSION: Among virulence factors, iceA2 was associated with peptic ulcer and milder histopathological findings, and vacAs1 was associated with milder histopathological findings.

Craniofacial features of children with celiac disease.

BACKGROUND AND GOALS: Growth retardation is one of the most important signs of childhood celiac disease (CD); however, it is not very well known whether craniofacial growth is also affected. We aimed to carry out a detailed craniofacial morphological study to derive a conclusion on the craniofacial features of children with CD. PARTICIPANTS AND METHODS: Eighty-four 2-16-year-old children with biopsy-proven CD and 84 age-matched and sex-matched healthy children were included. Of these, 37 children (44.0%) had been newly diagnosed and 47 (56.0%) were on a gluten-free diet. Anteroposterior and lateral photographs were evaluated using the Scion Image software program for the measurements of the distances between reference points on the face. RESULTS: Except for nasofrontal angle (nfa), nasolabial angle (nla), pronasale height (prnh), nasal dorsum height (ndh), and nasal radix height (nrh), all measurements were significantly greater in patients compared with controls. In celiac children, all facial proportions except forehead/face height (t-gl/t-gn) and nose length/face height (n-ns/t-gn) were significantly different from those of controls. Except for nla, prnh, ndh, nrh, t-gl/t-gn, face height to total face height ratio (sn-gn/t-gn), n-sn/t-gn, ear length to face height ratio (s-sba/t-gn), and face width to face height ratio (z-z/t-gn), all measurements were statistically different in those on a gluten-free diet and newly diagnosed children. CONCLUSION: Most of the facial measurements and proportions of celiac children were different from those of controls. Our data confirm those of a previous study reporting that the forehead proportion is not altered in childhood CD. Pathophysiological mechanisms underlying these alterations are not clear but disruptions of growth during certain critical periods may be responsible.

Dermatological signs in Wilson's disease.

BACKGROUND: Because no data on skin and mucosal findings of patients with Wilson's disease have been published so far, the aim of the present study was to investigate the prevalence of mucosal and skin findings in childhood Wilson's disease and to determine its specific dermatological findings, if any exist. METHODS: Thirty-seven 4-17-year-old children with Wilson's disease were included. A complete skin, scalp skin, mucous membrane and nail examination was performed. RESULTS: Of the children, 26 (70.3%) had at least one dermatological finding. Twenty-five (67.6%), five (13.5%), nine (24.3%) had at least one skin, mucosal and nail finding, respectively. The most prevalent dermatological diagnosis of the Wilson's disease patients was xerosis (45.7%). The presence of dermatological findings was not related to drug usage, severity of the disease, or malnutrition. The duration of the disease was not different in patients with or without dermatological findings. The frequency of skin findings alone, however, was high in relatively newly diagnosed patients (<2 years). CONCLUSION: Dermatologist should be aware of the various dermatological manifestations of Wilson's disease, because a careful and objective skin, mucosa, nail and hair examination may be indicative of a diagnosis of Wilson's disease, particularly in early cases.

Serum ghrelin levels in children with primary protein-energy malnutrition.

BACKGROUND: Ghrelin, an appetite-stimulating peptide, increases in cachectic conditions. It probably reflects peripheral nutritional status and influences nutrient intake and growth. The aim of the present study was to determine serum ghrelin levels in children with primary protein-energy malnutrition (PEM) and to find if any correlation exists between serum ghrelin levels and the clinical presentation of those patients. METHODS: Twenty-eight children with primary PEM and 10 healthy children were included. Serum fasting ghrelin levels were measured using radioimmunoassay. RESULTS: Mean serum ghrelin level of healthy children and those with PEM were 107.7 +/- 40.1 pg/mL and 141.6 +/- 123.8 pg/mL, respectively (P < 0.001). Ghrelin levels were independent of age and sex (P > 0.05). Ghrelin was negatively correlated with body mass index in healthy children (P < 0.01), but not in those with PEM (P > 0.05). Mean serum ghrelin level of children with moderate malnutrition was higher than that of children with severe malnutrition (199.2 +/- 154.1 pg/mL vs 98.4 +/- 74.3 pg/mL, P < 0.05). Mean serum ghrelin levels of patients with kwashiorkor, marasmic kwashiorkor, and marasmus were 127.9 +/- 97.8 pg/mL, 138.7 +/- 95.8 pg/mL, and 162.3 +/- 185.0 pg/mL, respectively (P > 0.05). CONCLUSION: Serum ghrelin level is higher in patients with PEM, especially in those with marasmus, compared to healthy children. Although this observation suggests that ghrelin helps to fight malnutrition in children, it is obvious that further studies are needed to clarify the exact pathogenetic mechanism regarding this condition.

Effects of lamivudine therapy on the glucose metabolism in children with chronic hepatitis B: first year follow-up results.

BACKGROUND AND AIM: Although the most common major toxicity of lamivudine has been pancreatitis, there is no report investigating possible impaired pancreatic functions, including glucose intolerance due to lamivudine therapy. The aim of this study was to evaluate the effects of lamivudine on the glucose metabolism in children. METHOD: Twenty-three children were included: eight patients were treated with lamivudine, others with both lamivudine and interferon-alpha. An oral glucose tolerance test (OGTT) was performed before the treatment, and after 6 and 12 months. RESULTS: After 6 and 12 months of the treatment four (18.4%) and eight (34.8%) patients had impaired OGTT, respectively. We did not find any relationship between impaired OGTT and age, gender, elevated amylase, abdominal pain and the mode of therapy (P>0.05). While mean glucose value after 2 h was higher than that of baseline, mean insulin concentrations and area under the curve values were not different (P<0.0001, P>0.05, and P>0.05, respectively). CONCLUSION: This is the first report demonstrating that lamivudine may impair the OGTT. Since at least 8.7% of our patients had persistently impaired OGTTs during the first year of the therapy, it may be reasonable to screen children before lamivudine therapy is started.