Prenatal diagnosis, natural history, postnatal treatment and outcome of 222 cases of spina bifida: experience of a tertiary center

ABSTRACTObjectivesTo report on the prenatal ultrasonographic diagnosis of spina bifida (SB) and its natural history, treatment and long‐term outcome in a large tertiary referral center.MethodsAll cases of SB diagnosed between February 1980 and December 2015 in the Obstetric Prenatal Diagnosis Day Unit of the Obstetrics and Gynecology Department at the Catholic University of the Sacred Heart, Rome, were reviewed. All infants with an open defect were delivered by elective Cesarean section and underwent early repair of the spinal defect. A ventriculoperitoneal (VP) shunt and/or third ventriculostomy was performed when needed. Complete postnatal follow‐up was carried out by our multidisciplinary team in the majority of cases. The cohort was analyzed in two groups: Group 1 included patients referred between February 1980 and December 1999; Group 2 included patients referred between January 2000 and December 2015.ResultsThere was a total of 222 cases of SB with a prenatal diagnosis rate of 94.6% (n = 210), with the majority of defects being meningomyeloceles (n = 142 (64.0%)), affecting the lumbosacral level (n = 110 (49.5%)) and being ≥ 2 cm in size (n = 163/195 (83.6%)). There were 174 (78.4%) live births, with more terminations in Group 2 (26.1%) than in Group 1 (10.8%; P = 0.003). Postnatal surgical repair was conducted in 157 cases (99.4% of eligible cases), with death of an infant who was operated on occurring more often in Group 1 (14.1%) than in Group 2 (4.2%; P = 0.03). VP shunt placement was required in 60.3% of infants operated on after January 2000. Long‐term follow‐up was available for 136 children (111 with open defects and 25 with closed defects). Infants born since 2000 with an open defect had normal ambulation or a mild defect in 50% of cases and normal or mild deficit of sphincter function in 37.8% of cases. An intelligence quotient of ≥ 70 was observed in the majority of children (81.4%; 35/43 cases). Worse motor function was associated with progressive prenatal ventriculomegaly, level of lesion and VP shunt placement.ConclusionsWe describe the prenatal diagnosis, natural history and long‐term outcome of a large contemporary cohort of SB fetuses and infants. In an era of pioneering fetal surgical techniques for in‐utero SB repair, it is important to acknowledge that advances in conventional neonatology and pediatric neurosurgery have allowed increased life expectancy and improved quality of life in patients with SB. Copyright © 2018 ISUOG. Published by John Wiley & Sons Ltd

280 Efficacy of Rifaximin for Sibo Treatment in Ibs Children

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Deliberate termination of life of newborns with spina bifida, a critical reappraisal

Objects: Deliberate termination of life of newborns (involuntary euthanasia) with meningomyelocele (MMC) is practiced openly only in the Netherlands. 'Unbearable and hopeless suffering' is the single most cited criterion for this termination, together with the notion that 'there are no other proper medical means to alleviate this suffering'. In this paper, both (and other) statements are questioned, also by putting them in a broader perspective. Methods: First, a historical overview of the treatment of newborns with MMC is presented, concentrating on the question of selection for treatment. Second, a thorough analysis is made of the criteria used for life termination. Third, a case of a newborn with a very severe MMC is presented as a 'reference case'. Conclusion: 'Unbearable and hopeless suffering' cannot be applied to newborns with MMC. They are not 'terminally ill' and do have 'prospects of a future'. In these end-of-life decisions, 'quality of life judgments' should not be applied. When such a newborn is not treated, modern palliative care always will suffice in eliminating possible discomfort. There is no reason whatsoever for active life-termination of these newborns

The prevalence of small intestinal bacterial overgrowth and methane production in patients with myelomeningocele and constipation

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Determinants of bone mineral density, bone mineral content, and body composition in a cohort of healthy children: Influence of sex, age, puberty, and physical activity

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 dualenergy 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. © Springer-Verlag 2011

Contrast enhanced gray scale and color Doppler voiding urosonography versus voiding cystourethtography in the diagnosis and grading of vesicoureteral reflux

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The prevalence of small intestinal bacterial overgrowth and methane production in patients with myelomeningocele and constipation

STUDY DESIGN: Prospective study. OBJECTIVES: The objective of this study was to assess the prevalence of small intestinal bacterial overgrowth (SIBO), methane (CH4) production and orocecal transit time (OCTT) in children affected by myelomeningocele. SETTING: This study was conducted at the Catholic University in Rome, Italy. METHODS: Eighteen (6M/12F; 16.4±7.6 years) children affected by myelomeningocele were enrolled. All subjects underwent H2/CH4 lactulose breath tests to assess SIBO and OCTT. All patients performed a visual analog scale to investigate abdominal pain, bloating and flatulence, and maintained a diary of the frequency and consistency of the stool during the previous 7 days. A nephro-urological clinical evaluation of the number of urinary tract infections (UTIs) and neurogenic bowel disease score were also performed. RESULTS: Thirty-nine percent (7/18) of the children showed SIBO and 61% (11/18) presented a delayed OCTT. Moreover 44.4% (8/18) produced high levels of CH4. Interestingly, all myelomeningocele children who produced CH4 showed a delayed OCTT and a higher incidence of UTI, with a lower frequency of evacuation, compared with those with a normal or accelerated OCTT. CONCLUSION: The association between CH4 and constipation suggests that CH4 has an active role in the development of constipation. One of the most interesting features of our study is to identify a correlation between myelomeningocele, CH4, delayed OCTT and UTI. The intestinal decontamination with locally acting drugs in these children may reduce the number of UTIs and improve intestinal motility

Serum interleukin-18 in children with henoch-schönlein purpura: A promising marker of disease activity?

Henoch-Schönlein purpura (HSp) is the most common systemic vasculitis of childhood with typical skin involvement and concurrent signs involving joints, gastrointestinal tract, and kidney. HSp pathogenesis is still far from being completely understood, though a knotty cytokine complex is believed to contribute to its intimate processes. The aim of our evaluation is to establish the relationship between serum levels of interleukin (IL)-18 and disease outcome and establish its feasibility to provide a marker of disease activity or even a prognostic tool in clinical practice. We examined clinical/laboratory variables and serum IL-18 in 17 children hospitalized during a year for HSp, diagnosed by EULAR/PRINTO/PRES criteria; the same patients were re-evaluated after 6 months. All results were compared with 25 age-matched healthy controls. IL-12 and IL-6 were also evaluated in a cohort of the same patients and compared with controls. General and clinical variables (sex, edema of the extremities, gastrointestinal or renal complications, relapses and renal involvement at 6 months) had no relationship with cytokine levels. Serum IL-18 and IL-6 levels were found significantly increased at diagnosis in HSp patients when compared with healthy controls. After 6 months, serum IL-18 and IL-12 levels were significantly decreased in patients, while IL-12 and IL-6 levels were significantly increased compared to healthy controls. Though preliminary and expecting further confirmation on a larger sample, our data support the conclusion that serum IL-18 levels reflect HSp activity

Longitudinal study of microvascular involvement by nailfold capillaroscopy in children with Henoch-Schönlein purpura

The aim of this study is to describe by video-nailfold capillaroscopy the microvascular involvement and capillary changes in children with Henoch-Schönlein purpura (HSp) and to establish a possible correlation with clinical outcome. Thirty-one patients underwent capillaroscopic evaluation through a videomicroscope during the acute phase and after 6 months. Twenty sex/age-matched controls were also examined. All capillaroscopic variables were statistically examined in combination with laboratoristic/clinical data. Architectural and morphological changes recorded during the acute phase were statistically significant in comparison to the controls (p < 0.01). At the follow-up, oedema was still observed in all patients, whereas, morphological changes only in two. There was a no significant correlation between capillaroscopy changes, laboratoristic/clinical data, and outcome. Video-nailfold capillaroscopy can be a simple tool to evaluate microvascular abnormalities in the acute phase of HSp, and the persistence of oedema could suggest an incomplete disease resolution at a microvascular level

Neuromotor rehabilitation in spina bifida: the need of randomized controlled trials

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