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Interventions directed to the recognition of abnormal bone mineral density, bone mineral content, and body composition in the pediatric age require the definition of factors influencing bone mass acquisition during growth. We have evaluated in a cross-sectional manner by dual-energy X-ray absorptiometry the impact of sex, age, puberty, and physical activity on total body areal bone mineral density, regional (lumbar and femoral) bone mineral densities, bone mineral content, and body composition (fat mass and lean mass) in a cohort of 359 healthy Italian children aged 3-14 years and investigated their specific contribution to bone mass accrual. Statistical multiple regression analysis was performed dividing the population in pre- and post-pubertal groups. Bone mineral density at the lumbar spine has resulted equally distributed in both sexes before puberty while has resulted higher at the femoral necks in males at whatever age. A significant effect on bone mass acquisition was exerted by male sex and lean mass. In the areas where the cortical bone is prevalent, males of the pre-pubertal group have presented the highest values; in the areas where the cancellous bone is prevalent, both sexes were equivalent until the age of 9 years, but after this age, females have presented higher increases, probably related to the inferior dimensional development of lumbar vertebrae. Conclusively, male sex and lean mass seem to represent independent predictors of bone mass accrual in the cortical bone of the examined children, while female sex and pubertal maturation are independent predictors of bone mass accrual in the trabecular bone.

Padua L, Rendeli C, Rabini A, Girardi E, Tonali P, Salvaggio E. Health-related quality of life and disability in young patients with spina bifida. Arch Phys Med Rehabil 2002;83:1384-8. Objectives: To assess the health-related quality of life (QOL) and disability in young patients with spina bifida and to correlate them with the clinical examination findings. Design: Prospective multidimensional study by means of (1) clinical assessment, (2) self-administered questionnaire for general health, and (3) standardized disability measurements. Relationships between disability measurement, patient-oriented examination, and conventional clinical assessment were evaluated. Setting: Pediatric department at a university hospital in Italy. Patients: Twelve consecutive young patients with spina bifida (mean age, 15.2y; range, 14–18y). Interventions: Not applicable. Main Outcome Measures: The Medical Outcomes Study 36-Item Short-Form Health Survey, the FIM™ instrument, and the Barthel Index. Results: As expected, disability was inversely related ( r =.72, P r =−.70, P r =−.70, P Conclusion: There was no linear inverse correlation between disability and QOL in patients with spina bifida. Patients with mild disability needed as much psychologic support as patients with severe whole disability. © 2002 by the American Congress of Rehabilitation Medicine and the American Academy of Physical Medicine and Rehabilitation

Background: The main consequences of neurogenic bladder dysfunction are renal damage related to high intravesical pressure, vesicoureteral reflux (VUR) and urinary tract infections (UTIs). Neurologic impairment, UTIs and VUR are known to be linked with a potential for renal scarring. Of paramount importance as predisposing conditions for UTIs in neurogenic bladder are poor bladder drainage and detrusor-sphincter dyssynergy which cause further abnormalities on the internal bladder surface and, consequently, a bladder wall rich in glycosaminoglycans (GAGs). Materials and Methods: The aim of this study is to investigate the correlation between GAG excretion and bladder wall degeneration in 43 patients affected by spina bifida (SB) and 40 healthy age-matched control children. Results: The amounts of GAGs excreted vary greatly in SB patients aged from 0 to 5 years, and values are comparable to those observed in normal controls. They are significantly higher in children over 5 years of age. Conclusion: The increased excretion of GAGs in older SB patients is an important parameter in the evaluation of the physiopathological condition of the bladder wall and hence may be considered a possible marker for monitoring the beginning of bladder damage.

OBJECTIVE: To estimate the risk for spina bifida associated with the common mutation C677T of the MTHFR gene in a country with a relatively low prevalence of NTDs. DESIGN: Case-control study. SUBJECTS: Cases: 203 living patients affected with spina bifida (173 myelomeningocele and 30 lipomeningocele); controls: 583 subjects (306 young adults and 277 unselected newborns) from northern and central-southern Italy. SETTING: Cases: three spina bifida centres; young adult controls: DNA banks; newborn controls: regional neonatal screening centres. MAIN OUTCOME MEASURES: Prevalence of the C677T genotypes in cases and controls by place of birth; odds ratios for spina bifida and estimated attributable fraction. RESULTS: The prevalence of T/T, T/C, and C/C genotype was 16.6%, 53.7%, and 29.7% in controls and 25.6%, 43.8%, and 30.6% in cases, respectively. We found no differences between type of defect or place of birth. The odds ratio for spina bifida associated with the T/T genotype v C/C plus T/C was 1.73 (95% CI 1.15, 2.59) and the corresponding attributable fraction was 10.8%. No increased risk was found for heterozygous patients (OR=0.79, 95% CI 0.53-1.18). CONCLUSION: This study, as well as the meta-analysis we updated, shows that homozygosity for the MTHFR C677T mutation is a moderate risk factor in Europe, and even in Italy where there is a relatively low prevalence of spina bifida. The estimated attributable fraction associated with this risk factor explains only a small proportion of cases preventable by periconceptional folic acid supplementation. Thus, other genes involved in folate-homocysteine metabolism, their interaction, and the interaction between genetic and environmental factors should be investigated further.

The occurrence of interstitial nephritis in patients receiving antimicrobial therapy has frequently been reported in adults while it has rarely been described in children. We report the case of a patient treated with amoxicillin who presented hallucinations and serosanguineous blisters during treatment and developed renal failure a few days after discontinuation of the drug. On renal biopsy an interstitial nephritis with tubulitis was identified.

Study design Prospective multidimensional study by means of: (1) clinical assessment, (2) parental-administered questionnaire for general health (CHQ-PF50), and (3) standardised disability measurements. Objectives To assess the health-related quality of life (QoL) and disability in children with spina bifida (SB) and to correlate them with the clinical picture and our previous study on adolescents with SB. Setting SB Centre at a University Hospital in Italy. Methods A total of 29 consecutive children with SB (mean age 11.4, range 4-14 years)were evaluated through Child Health Questionnaire Parental Form (CHQ-PF50), the FIM instrument, and the Barthel index. Results Disability was inversely related only (r=0.49; P=0.007) to the physical aspect of the QoL of children. Similarly, the disability was inversely related (r=0.37; P=0.005) to the emotional aspect of QoL of patient's parents. Unexpectedly, for the mental aspects of QoL of patients, major disability was not associated with higher psychological distress and severe role disability due to emotional problems. At clinical examination, findings especially for continence and number of catheterisations were usually related to deterioration of physical aspects of QoL (r=-2.28; P=0.02) in children. Conclusion The multiperspective assessment showed that there is a linear inverse correlation between disability and QoL in children with SB only for physical aspects. Conversely, there is linear inverse correlation between disability and QoL in patient's parents regarding only emotional aspects. Moreover, this study provided useful information for clinical practice underlining that continence problems are those that most affect QoL in children with SB and their parents.

The pathogenic mechanism of neural tube defects may involve genetic polymorphisms and nutritional factors related to homocysteine metabolism. We evaluated the association of polymorphisms of three genes affecting vitamin B12-dependent remethylation of homocysteine, transcobalamin (TC), methionine synthase (MTR) and MTR reductase (MTRR), combined or not with methylenetetrahydrofolate reductase (MTHFR), with the risk of having neural tube defect in 40 children with spina bifida and 58 matched controls from South Italy. MTR 2756 AG/GG, TC 777 CG/GG /MTHFR 677 CC and MTRR 66 GG /MTHFR 677 CC genotypes increased the risk with odds ratios of 2.6 (P=0.046), 2.4 (P=0.028) and 4.5 (P=0.023), respectively. In contrast, MTHFR 677 TT was protective (odds ratio=0.11, P=0.009). In conclusion, genetic determinants affecting the cellular availability or MTRR-dependent reduction of B12 may increase the risk of spina bifida.

The main goal in the management of children with neurogenic bladder is to preserve renal function and assure a socially acceptable continence. Urodynamic testing based on cystomanometry evaluation of intravesical pressure and flow measurement, at present is considered the examination of first choice in the diagnosis of neurogenic micturition disorders to better classify the type of bladder based on the risk of upper urinary tract impairment and be able to plan a specific, personalized management.

The neurogenic bladder represents a vesical dysfunction secondary to a congenital or acquired neurologic lesion, spinal dysraphism being the most common cause in pediatric age. According to the lesion level and severity, neurogenic bladder can be hypertonic hyperreflexic, hypotonic hyporeflexic or of mixed type characterized by different clinical and urodynamic patterns and the potential cause of nephrourologic complications. These types of neurogenic bladder require diversified treatments as anticholinergic drugs, clean intermittent catheterization and antibiotic prophylaxis, separately or in various combinations. Close follow-up of children is necessary to control and prevent the onset of complications with changes in medical therapy or surgical treatment if required.

Many factors have been proposed as predictors of poor renal prognosis in children with hemolytic uremic syndrome (HUS), but their role is still controversial. Our aim was to detect the most reliable early predictors of poor renal prognosis to promptly identify children at major risk of bad outcome who could eventually benefit from early specific treatments, such as plasmapheresis. Prognostic factors identifiable at onset of HUS were evaluated by survival analysis and a proportional hazard model. These included age at onset, prodromal diarrhea (D), leukocyte count, central nervous system (CNS) involvement, and evidence of Shiga toxin-producing Escherichia coli (STEC) infection. Three hundred and eighty-seven HUS cases were reported; 276 were investigated for STEC infection and 189 (68%) proved positive. Age at onset, leukocyte count, and CNS involvement were not associated with the time to recovery. Absence of prodromal D and lack of evidence of STEC infection were independently associated with a poor renal prognosis; only 34% of patients D(-)STEC(- )recovered normal renal function compared with 65%-76% of D(+)STEC(+), D(+)STEC(-) and D(-)STEC(+ )patients. In conclusion, absence of both D and evidence of STEC infection are needed to identify patients with HUS and worst prognosis, while D(-) but STEC(+) patients have a significantly better prognosis.

Purpose The purpose of this study was to compare contrast-enhanced gray-scale voiding urosonography (CE-VUS) and contrast-enhanced color Doppler voiding urosonography (CE-CDVUS) with voiding cystourethrography (VCUG) to verify whether the use of color Doppler imaging improves the diagnosis and grading of vesicoureteral reflux (VUR). Methods In 74 patients, CE-VUS and CE-CDVUS were compared with VCUG, which was used as the gold standard. SHU 508 A (Levovist) was used as the echo-enhancing contrast agent. VUR was diagnosed if hyperechoic dots or color signals were visualized in the ureter on sonograms. VUR grading was based on morphologic and dynamic findings on CE-VUS and morphologic and color findings on CE-CDVUS. VCUG was performed conventionally, and grading by VCUG was in accordance with the international system of radiographic VUR grading. Patients who voided during 1 examination only (either CE-VUS and CE-CDVUS or VCUG) were excluded from the study. Agreement between the results of CE-VUS and VCUG and between those of CE-CDVUS and VCUG in diagnosing VUR was calculated by κ statistics. CE-VUS and CE-CDVUS were compared for diagnostic accuracy by the McNemar test. Results The agreement between CE-VUS and VCUG in predicting VUR was 90% (κ score, 0.77; p < 0.001). The agreement between CE-CDVUS and VCUG was 96% (κ score, 0.91; p < 0.001). CE-CDVUS showed a significantly higher diagnostic accuracy than did CE-VUS (96% versus 90% of cases correctly classified; McNemar χ2 = 4; p < 0.05). This was mainly related to the lower number of false-negative results for grade I and grade II VUR when CE-CDVUS was used. Conclusions The use of color Doppler imaging significantly improves the accuracy of contrast voiding urosonography in the detection and grading of VUR. © 2001 John Wiley & Sons, Inc. J Clin Ultrasound 29:65–71, 2001.

Objective To determine variations in the amount of glycosaminoglycans (GAGs) excreted by patients with nocturnal enuresis and/or diurnal incontinence. Patients, subjects and methods The study included 27 patients (aged 5–15 years) with nocturnal enuresis and/or diurnal incontinence, and 27 healthy age-matched children. Their urinary GAG excretion was assessed over 24 h using the sodium tetraborate-carbazole method. Results Patients with nocturnal enuresis and/or diurnal incontinence had higher mean values of urinary GAG excretion than age-matched controls. There were significant differences in GAG excretion between those with nocturnal enuresis and diurnal incontinence and those with nocturnal enuresis alone. Conclusions GAG excretion in patients with nocturnal enuresis and/or diurnal incontinence was significantly higher than in normal children, suggesting that measuring urinary GAGs may be useful in evaluating physiopathological conditions of the bladder wall, and hence in monitoring potential damage in the bladder mucosa.

A number of studies have focused on quality of life in children with spina bifida, concentrating for the most part on younger children. We assessed health-related quality of life and disability in adolescents with spina bifida and correlated these with the clinical and neurophysiologic picture. Twelve consecutive spina bifida cases were evaluated through a multiperspective protocol by means of (1) clinical and neurophysiologic assessment, (2) a self-administered questionnaire for general health—Short Form-36 (SF-36)—and (3) standardized disability measurements (Functional Independence Measure, Barthel Index, Deambulation Index). Relationships between disability measurement, the adolescents' perspective, and conventional clinical and neurophysiologic assessment were evaluated. The Functional Independence Measure is strongly related to the clinical measurement of muscle strength ( P < .03, r > .6). The Barthel Index and Deambulation Index are related to clinical measurement of muscle strength ( P < .03, r > .6), as well as to electromyographic findings in the proximal muscles of inferior limbs ( P < .05, r > .6). Although the function of lower limb muscles, especially the proximal muscles, is closely related to impairment of physical aspects of quality of life, it is only partially related to the mental aspects ( P < .03, r > .6). The findings at clinical examination, especially proximal deficit of inferior limbs, were usually related to higher disability and lower physical aspects of quality of life. The multiperspective evaluation of adolescents with spina bifida shows a high correlation between conventional neurologic-neurophysiologic measurements and the adolescents' own perspective of their quality of life. Our data demonstrated that the conventional clinical and neurophysiologic measurements are useful not only because they provide a measure of lower limb impairment but also because they appear to be related to physical aspects of the adolescent's quality of life. ( J Child Neurol 2004;19:952—957).