Assessment of Behavioural Disorders in Children with Functional Constipation.

BACKGROUND: Functional constipation (FC) is a common health problem in paediatrics that causes significant physical and emotional distress to patients and their families. AIM: In the current work, we assessed the presence of behavioural problems in children with functional constipation and their pattern and relation to various demographic and disease-associated factors. METHODS: A cross-sectional case-control study was conducted, including 55 consecutive children aged 4-16 years diagnosed with functional constipation and 55 healthy age and sex-matched controls. Psychological assessment was done using the Pediatric Symptom Checklist - 17 (PSC-17). RESULTS: Twenty-six (47.3%) patients with FC had positive total PSC-17 scores while none of the controls had positive scores (p-value < 0.001). Positive internalising and externalising behaviours scores and attention problems were found in 36 (65.5%), 15 (27.3%) and 12 (21.8%) of the patients respectively in contrary to controls where only 6 (10.9%) had positive scores in internalising behaviour, and non-showed externalising behaviour and 4 (7.3%) were inattentive. Older age, longer duration of illness, residency in rural areas and presence of encopresis were found to have a significant association with the presence of such problems. CONCLUSION: Children with FC have more behavioural disorders compared to healthy controls. Integration of psychosocial aspects and their management is recommended during dealing with patients with FC.

Pegylated interferon α/ribavirin therapy enhances bone mineral density in children with chronic genotype 4 HCV infection.

BACKGROUND: The impact of chronic hepatitis C (CHC) on bone mineral density (BMD) has been well studied in adults with a relative paucity of data in children, especially concerning effect of treatment with pegylated interferon (PEG-IFN) plus ribavirin (RV). In the current work, we assessed prospectively changes in BMD in children with CHC before, during, and after treatment. METHODS: Forty-six consecutive children with noncirrhotic genotype 4 CHC were subjected to dual-energy X-ray absorptiometry at baseline, 24 weeks, 48 weeks of therapy and 24 weeks after treatment. BMD, bone mineral content (BMC), and Z score of lumbar spine (L2-L4) were reported. Tanner pubertal stage, viral load, liver function tests, serum calcium, phosphorus, alkaline phosphatase, parathyroid hormone, and liver histopathology were assessed in all included children. RESULTS: Thirty (65.2%) patients had normal BMD, 10 (21.7%) were at risk for low BMD, and 6 (13.1%) had low BMD for chronological age. Patients with low BMD were significantly older (P=0.001), with higher frequency of delayed puberty than other groups (P=0.002). Baseline densitometric parameters (BMD & BMC) were significantly positively correlated with patients' age, weight, height, body mass index and hemoglobin level; while they were insignificantly correlated with basal viral load, histopathology activity index and fibrosis score. Densitometric parameters improved significantly on PEG-IFN plus RV treatment, this improvement was found to be sustainable 24 weeks after therapy. CONCLUSIONS: Low BMD is detectable in a proportion of CHC children. Antiviral therapy leads to a sustainable increase in BMD.

Cardiac functions assessment in children with celiac disease and its correlation with the degree of mucosal injury: Doppler tissue imaging study.

BACKGROUND/AIMS: Celiac disease (CD)-associated cardiologic disorders is a growing concern. However, data regarding cardiac affection in children with CD are few. This study aimed at assessing the subclinical impact of CD on the global myocardial performance in Saudi children with CD using Doppler tissue imaging (DTI). PATIENTS AND METHODS: Conventional two-dimensional echocardiography was performed among 20 Saudi children with CDas well as 20 age and sex-matched healthy controls. DTI were used to determine right ventricular (RV) and left ventricular (LV) Tei indexes. These findings were correlated with the Modified Marsh Classification of the histologic findings in CD. RESULTS: LV and RV Tei indexes were significantly higher in children with CD than the control group (mean ± standard deviation: 0.47 ± 0.05 vs. 0.31 ± 0.18; P< 0.0005 and 0.51 ± 0.04 vs. 0.32 ± 0.05; P< 0.0001, respectively). RV Tei index was found to be positively correlated with the Modified Marsh Classification of CD (r = 0.7753, P< 0.0001). LV Tei index tended to be more affected in patients with more severe histologic findings, however, such relation did not reach statistical significance (r = 0.2479, P = 0.292). Fractional shortening did not correlate with the Modified Marsh Classification of histologic findings in CD patients (r= -0.11, P = 0.641). CONCLUSIONS: Subclinical myocardial dysfunction of both ventricles occurs in children with CD. The DTI method appears to be more sensitive than conventional two-dimensional echocardiography in the early detection of myocardial dysfunction in children with CD.

Proton MR Spectroscopy of the brain in children with neuronopathic Gaucher's disease.

OBJECTIVE: To assess the clinical usefulness of proton magnetic resonance spectroscopy ((1)H-MRS) in children with neuronopathic Gaucher's disease (NGD). METHODS: A prospective study was conducted upon 21 consecutive children with acute (n = 7) and chronic (n = 14) forms of NGD (13 boys, 8 girls; mean age 37 months) and for a control group (n = 15). All patients and controls underwent (1)H-MRS of frontal white matter. The choline/creatine (Ch/Cr) and N-acetyl aspartate (NAA)/Cr ratios were calculated. A modified severity scoring tool (m-SST) of NGD was calculated and genotyping was performed for all patients. Metabolic ratios were correlated with clinical types, m-SST and genotyping. RESULTS: There was a significant difference in Ch/Cr (P = 0.001) between patients with NGD and the control group. Lipid peak was detected in 15 patients with NGD. Patients with acute NGD revealed higher m-SST (P = 0.001) and Ch/Cr (P = 0.001) compared with the chronic form. Patients with homozygous gene mutation (L444P/L444P) had significantly higher m-SST (P = 0.001) and Ch/Cr (P = 0.013) than those with the heterozygous gene mutation (L444P/other). The Ch/Cr was negatively correlated with m-SST (r = -0.682; P = 0.001) CONCLUSION: (1)H-MRS can be used to detect brain abnormalities in children with NGD and Ch/Cr is well correlated with m-SST and genotyping. KEY POINTS: • Proton magnetic resonance spectroscopy offers important information in some paediatric neurological conditions. • Significantly different choline/creatine ratios were found between neuronopathic Gaucher's disease and controls. • Lipid peak helps with the diagnosis of neuronopathic Gaucher's disease. • Ch/Cr correlated with the modified severity scoring tool of Gaucher's disease.

Morphometric assessment of liver fibrosis may enhance early diagnosis of biliary atresia.

BACKGROUND: Neonatal cholestasis syndrome is considered as a major challenge in pediatric practice. This study was undertaken to investigate the value of morphometric assessment of hepatic fibrosis in early diagnosis of biliary atresia. METHODS: We studied liver biopsy specimens from 53 patients with neonatal cholestasis. The patients were assigned to two groups: group 1 (25 patients with biliary atresia) and group 2 (28 patients with non-obstructive cholestasis). Morphometric assessment of fibrosis was performed for all biopsies; in addition, another twelve histological parameters were estimated and scored on a scale of 0 to 4. Biopsies of infants aged 60 days or younger were characterized and analyzed separately. RESULTS: Morphometric value of fibrosis was significantly higher in group 1 than in group 2 (16.8 ± 8.4% vs. 5.9 ± 2.3%, respectively; P<0.001). By multiple regression analysis, bile ductular plugs, morphometric assessment of fibrosis, rosetting, portal tract inflammation and pattern of cholestasis were found to be significant in discriminating the two groups. In infants aged 60 days or younger, a cutoff value for morphometric assessment of fibrosis of 7.5% was the discriminating point between the two groups with a sensitivity of 80% and a specificity of 84%. CONCLUSION: Morphometric assessment of hepatic fibrosis could enhance the value of liver biopsy in early diagnosis of biliary atresia.

Anorectal functional abnormalities in Egyptian children with chronic functional constipation.

BACKGROUND AND STUDY AIMS: Chronic functional constipation represents 95% of the cases of paediatric constipation. Epidemiologic data, pathophysiology and anorectal functional abnormalities vary greatly among different reports across different populations. The aim of this study was to evaluate these data in Egyptian children with chronic functional constipation. PATIENTS AND METHODS: This study included 150 children with chronic functional constipation (101 males, 49 females; mean age 6 ± 3.1 years); a control group of 50 age- and sex-matched healthy children were enrolled for standardisation of the manometry technique. A structured symptom questionnaire and clinical examination including digital rectal examination in addition to anorectal manometry were done for all included children. Defaecation dynamics were assessed in all children 5 years or older using anorectal manometry with integrated electromyogram of the external anal sphincter and the puborectalis muscle. RESULTS: The maximal tolerable volume was significantly higher in the constipated children than in the control group (p=0.03). No significant differences existed between constipated and control children regarding other anorectal manometric parameters. Abnormal defaecation dynamics were detected in 35 out of 95 tested patients (36.8%). CONCLUSION: Increased maximal tolerable volume is the most striking manometric feature in Egyptian children with chronic functional constipation. Abnormal defaecation dynamics were detected in about one-third of the tested patients. Standardisation of the measurement techniques and obtaining normal ranges for anorectal manometric parameters for each laboratory are recommended.

Apparent diffusion coefficient of the vertebral bone marrow in children with Gaucher's disease type I and III.

PURPOSE: To assess apparent diffusion coefficient (ADC) as a quantitative parameter for detection of vertebral bone marrow infiltration in children with Gaucher's disease type I and III. MATERIAL AND METHODS: Prospective study was conducted on 20 infants and children (14 M, 6 F; aged 31-61 months; mean age 46 months) with Gaucher's disease type I (n = 13) and III (n = 7), and 20 age and sex matched controls. They underwent routine and diffusion-weighted MR imaging of the lumbar spine using echo planar imaging with b value of 0, 500 and 1000 sec/mm2. The ADC value of the lumbar vertebral bone marrow was compared in different phenotypes and genotypes; and correlated with bone marrow burden score (BMB), chitotriosidase level, hemoglobin and platelet count. RESULTS: The mean ADC value of marrow infiltration in patients with Gaucher's disease (0.39 ± 0.06 × 10(-3) mm(2)/s) was significantly lower (P = 0.001) than that of vertebral bone marrow in controls (0.54 ± 0.05 × 10(-3) mm(2)/s). The cut-off ADC value used to differentiate patients with Gaucher's disease from controls was (0.47 × 10(-3) mm(2)/s); with sensitivity of 95 %; specificity of 95 % and area under the curve of 0.986. The L444P/L444P mutation had significantly lower ADC value compared to other mutations (P = 0.001). The mean ADC value of the bone marrow negatively correlated with BMB (r = -0.831; P = 0.001), and biomarkers of disease activity including chitotriosidase (r = -0.542; P = 0.014), hemoglobin (r = -0.727; P = 0.001) and platelets (r = -0.698; P = 0.001). CONCLUSION: We concluded that there is significant difference in the ADC value of vertebral bone marrow between children with Gaucher's disease and controls, and the ADC value correlated well with genotyping and some biomarkers of disease activity.

Diagnosis and quantification of hepatic fibrosis in children with diffusion weighted MR imaging.

PURPOSE: To evaluate the accuracy of diffusion weighted MR imaging in diagnosis and quantification of hepatic fibrosis in children with chronic hepatitis. MATERIALS AND METHODS: Sixty-three consecutive children (40 boys, 23 girls, median age 9.3 years), with chronic hepatitis and thirty age matched volunteers underwent diffusion weighted MR imaging of the liver using a single shot echoplanar imaging with b-value=0, 250, and 500s/mm(2). Liver biopsy was obtained with calculation of METAVIR score. The ADC value of the liver was correlated with METAVIR score. Receiver operating characteristic curve was done for diagnosis and grading of hepatic fibrosis. RESULTS: There was statistical difference in the mean ADC value between volunteers and patients with hepatic fibrosis (P=0.001) and in patients with different grades of METAVIR scores (P=0.002). There was correlation between the mean ADC value and METAVIR score (r=0.807, P=0.001). The cut off point to predict fibrosis (1.7×10(-3)mm(2)/s) revealed 83% accuracy, 85% sensitivity, 82% specificity, 83% PPV, and 85% NPV. The area under the curve was 0.91 for F1, 0.85 for F2, 0.86 for F3 and 0.90 for F4. CONCLUSION: The apparent diffusion coefficient value is a promising quantitative parameter used for diagnosis and quantification of hepatic fibrosis in children with chronic hepatitis.

Apparent diffusion coefficient vale of the brain in patients with Gaucher's disease type II and type III.

INTRODUCTION: The aim of this work is to assess the usefulness of apparent diffusion coefficient (ADC) value of the brain for diagnosis of patients with Gaucher's disease type II and type III. METHODS: Prospective study was conducted upon 13 patients (nine boys and four girls aged 8 months-14 years: mean 6.1 years) with Gaucher's disease type II and III and for age-matched control group (n = 13). Diffusion-weighted magnetic resonance imaging using a single-shot echo-planar imaging with a diffusion-weighted factor b of 0, 500, and 1,000 s/mm(2) was done for all patients and volunteers. The ADC value was calculated in ten regions of the brain parenchyma and correlated with genotyping. RESULTS: There was significantly lower ADC value of the cortical frontal (P = 0.003), cortical temporal (P = 0.04), frontal subcortical white matter (P = 0.02), corticospinal tract (P = 0.001), cerebellum (P = 0.001), medulla (P = 0.002), and midbrain (P = 0.02) between patients and volunteers. There was significant difference in the ADC value of the frontal and temporal gray matter (P = 0.04 and 0.05, respectively) between patients with heterozygous and homozygous gene mutation. CONCLUSION: We concluded that ADC value is a new promising quantitative imaging parameter that can be used for the detection of brain abnormalities in patients with Gaucher's disease type II and type III and has a correlation with genotyping.