Maurizio Carta

Unilateral multicystic dysplastic kidney in infants exposed to antiepileptic drugs during pregnancy

Prenatal exposure to antiepileptic drugs (AEDs) increases the risk of major congenital malformations (MCM) in the fetus. AED-related abnormalities include heart and neural tube defects, cleft palate, and urogenital abnormalities. Among the various congenital anomalies of the kidney and urinary tract (CAKUT), multicystic dysplastic kidney (MCDK) disease is one of the most severe expressions. Although prenatal ultrasound (US) examination has increased the prenatal diagnosis of MCDK, the pathogenesis is still unclear. We report on four cases of MCDK in infants of epileptic women treated with AEDs during pregnancy. From October 2003 to June 2006, we observed four infants with unilateral MCDK born to epileptic women. Three patients were considered to have typical features of multicystic dysplastic kidney, and one infant was operated because of a cystic pelvic mass in the absence of a kidney in the left flank. The macroscopic appearance of this mass showed an ectopic multicystic kidney confirmed by histological findings. All patients have been studied by US scans, voiding cystourethrogram (VCUG), and radionuclide screening isotope imaging. The prenatal exposure to AEDs increases the risk of major congenital malformations from the background risk of 1–2% to 4–9%. AEDs may determine a defect in apoptosis regulation that could lead to abnormal nephrogenesis, causing MCDK. Carbamazepine (CBZ) and phenobarbital (PHB) during pregnancy should be used at the lowest dosage compatible with maternal disease. The reduction, or even suspension, of drug dosage should be achieved from the periconceptional period to the first 8 weeks of gestation to avoid any interference with organogenesis.

Hypercalciuria and kidney calcifications in terminal 4q deletion syndrome: Further evidence for a putative gene on 4q

We report a newborn girl with a de novo terminal 4q deletion (q31.3 → qter) and a characteristic phenotype of minor facial anomalies, cleft palate, congenital heart defect, abnormalities of hands and feet, and postnatal onset of growth deficiency. Laboratory studies showed excessive urinary calcium excretion on standard milk formula and on oral calcium load. Blood measurements of parathyroid hormone, calcitonin, bicarbonate, calcium, phosphorus, magnesium, sodium, chlorine, potassium, and urinary measurements of phosphorus, magnesium, sodium, chlorine, potassium were normal for age. At 2 months of life, ultrasonography showed kidney calcifications. Clinical and laboratory data support the diagnosis of absorptive hypercalciuria or abnormal regulation of calcium‐sensing receptors in the renal tubules. The evidence of hypercalciuria and kidney calcifications associated with 4q terminal deletion strengthens the hypothesis that a putative gene for hypercalciuria is located on the terminal segment of chromosome 4q.

Preventive Effect of Cow’s Milk Fermented with Lactobacillus paracasei CBA L74 on Common Infectious Diseases in Children: A Multicenter Randomized Controlled Trial

Background: Fermented foods have been proposed to prevent common infectious diseases (CIDs) in children attending day care or preschool. Objectives: To investigate the efficacy of dietary supplementation with cow’s skim milk fermented with the probiotic Lactobacillus paracasei CBA L74 in reducing CIDs in children attending day care or preschool. Methods: Multicenter, randomized, double-blind, placebo-controlled trial on healthy children (aged 12–48 months) consuming daily 7 grams of cow’s skim milk fermented with L. paracasei CBA L74 (group A), or placebo (maltodextrins group B) attending day care or preschool during the winter season. The main outcome was the proportion of children who experienced ≥1 episode of CID during a 3-month follow-up. Fecal biomarkers of innate (α- and β-defensins, cathelicidin) and acquired immunity (secretory IgA) were also monitored. Results: A total of 126 children (71 males, 56%) with a mean (SD) age of 33 (9) months completed the study, 66 in group A and 60 in group B. At intention to treat analysis, the proportion of children presenting ≥1 CID was 60% in group A vs. 83% in group B, corresponding to an absolute risk difference (ARD) of −23% (95% CI: −37% to −9%, p < 0.01). At per-protocol-analysis (PPA), the proportion of children presenting ≥1 CID was 18% in group A vs. 40% in group B, corresponding to an absolute risk difference (ARD) of −22% (95% CI: −37% to −6%, p < 0.01). PPA showed that the proportion of children presenting ≥1 acute gastroenteritis (AGE) was significantly lower in group A (18% vs. 40%, p < 0.05). The ARD for the occurrence of ≥1 AGE was −22% (95% CI: −37% to −6%, p < 0.01) in group A. Similar findings were obtained at PPA regarding the proportion of children presenting ≥1 upper respiratory tract infection (URTI), which was significantly lower in group A (51% vs. 74%, p < 0.05), corresponding to an ARD of −23% (95% CI: −40% to −7%, p < 0.01). Significant changes in innate and acquired immunity biomarkers were observed only in subjects in group A. Conclusions: Dietary supplementation with cow’s skim milk fermented with L. paracasei CBA L74 is an efficient strategy in preventing CIDs in children.

Sequential contrast-enhanced magnetic resonance imaging in the diagnosis of growth hormone deficiencies

The purpose of the present study was to assess the presence and the time-course of contrast-enhancement in the pituitary gland and pituitary stalk of 24 patients with isolated growth hormone (GH) deficiency and multiple pituitary hormone deficiency. The patients were evaluated clinically (auxological measurements), endocrinologically (spontaneous GH secretion and GH stimulation tests) and with conventional MRI scans. In addition, fast-framing dynamic magnetic resonance imaging (MRI) with Gd-DTPA enhancement was used to quantitate the time course of contrast enhancement within the neurohypophysis, pituitary stalk, postero-superior adenohypophysis and antero-inferior adenohypophysis. In 3 patients without evidence of abnormalities at normal conventional MRI scans (normal anterior lobe and pituitary stalk, normal posterior lobe) and a high response to the GRF provocation test, sequential time-resolved Gd-enhanced MRI demonstrates reduced contrast enhancement in the pituitary stalk. These findings are consistent with impairment in stalk vasculature, presumably located at the level of the portal venous system, and could play a role in the pathogenesis of pituitary hormonal deficiency.

Smart Cities and Municipal Building Regulation for Energy Efficiency

The “Smart Cities & Communities Initiative†of the Strategic Energy Technology Plan is the strategic European response to lead cities and regions to a carbon free future. In this contest energy efficiency in buildings has a crucial role and must be considered in a holistic approach to the urban planning. In order to implement the minimum requirements stated by the European Directive about the Energy Performance of Buildings, and in order to consider different planning layers with the view to a smart city planning, local regulations are a key factor aiming at sustainable territorial planning. This paper investigates the possibility to draft a basic structure of Municipal Building Regulations in order to guide local administrators and technicians and to limit discretionary power of bureaucracy. The paper is organized as follows. First, a review of the most common practices for building regulations in Europe is proposed, then the basic structure of a municipal building regulation for the city of Palermo (Southern Italy) accounting for sustainability is discussed.

Smart Planning and Intelligent Cities: A New Cambrian Explosion

We live in the society of knowledge, creativity and innovation: true anti-cyclical factors with respect to the crisis that has overrun the traditional development protocols and that requires powerful processes of creation and spread of knowledge. The true innovation has no boundaries, it has to affect each aspect of institutions and enterprises and operates as a mutagen of society, requiring a paradigm shift. Startups, fablabs, co-workers, makers and smart citizens have given rise to a global urban movement and most cities now have a sizeable colony: a true smart ecosystem for improving social innovation. Between them they are home to hundreds of accelerators and thousands of smart places and co-working spaces, and this ecosystem must be highly interconnected and integrated in a renewed urban metabolism driven by more adequate planning paradigms and tools. The combination of technological innovation and urban planning, however, is not only instrumental and determines changes within the community and its territory too. The “Third Industrial Revolution” and the gradual implementation of e-society have made it possible to delegate an increasing number of physical and intellectual tasks, even very sophisticated, to technology. In fact, the goods and ideas produced are increasingly less tied to a scheduled place and time, in terms of quality and quantity; the workplace is no longer an independent variable and time is no longer rigidly synchronized, especially as far as the intellectual work is concerned. The spreading of sensors, smart devices, electronic networks and urban life apps has created a proper urban cyber-physical space, consisting of the constant interaction between physical components and digital networks, tangible actions and intangible feedback. Smart cities are components of a new urban organism able to rethink the development and to encourage a “creative explosion”, leading smartness-based initiatives as part of a European post-metropolitan vision.

The Waterfront Theorem: An Integrated and Creative Planning Approach

The chapter defines how the urban regeneration process must be declined into several “sensitive” interfaces of waterfronts in future fluid cities. Knowledge, analysis, diagnosis and dissemination of the new idea of waterfront integrate together different points of views, building a complex framework for sustainable and creative management of urban coastal areas. At last the chapter provides a new general framework for integrating ICZM and BARE methodologies in order to define—and to plan—four waterfront relationships with urban context in a projectual and proactive horizon.

The Fluid City Paradigm: A Deeper Innovation

The Waterfront regeneration needs to be upgraded by a paradigm shift able to produce a deeper innovation of visions, methods and tools. The chapter, starting from the creative city paradigm, and through new points of view about port cities and seaside contexts, proposes new ways to apply the urban regeneration and renewal of disused areas in harbour contexts. The principles of the fluid city paradigm are declined in a “Manifesto” that explains how coastal urban components can contribute to a new fluidity and porosity of cities.

Europe 2020 Sl-LAB: A New Center for Economic and Social Development in Sicily

The debate on the determinants of regional and local development has been stimulated recently by the European strategy for smart, sustainable and inclusive growth defined as Europe 2020. We present the objectives and structure of a new laboratory (SI-LAB) for the development of Sicilian economy promoted by the University of Palermo. In particular, we highlight the fundamental issues related to the incoming functioning of the Lab as a new oganization devoted to analyzing public policy issues, and fostering new ways of entrepreurship at the local level.

Perinatal management of gastroschisis

Gastroschisis is an abdominal wall defect, typically located to the right of the umbilical cord, requiring an early surgical treatment shortly after birth. Affected patients can be identified during intrauterine life with US and should be delivered in referral hospitals where a multisciplinary approach can be provided, involving neonatologists, clinical geneticists, surgeons and other specialists. These patients require a complex management in Neonatal Intensive Care Unit (NICU) and a long term follow-up after discharge. Exceed the acute neonatal condition, gastroschisis has a good prognosis, if there are no overlapping complications, and it should be differentiated from omphalocele, burdened with worse prognosis, and other conditions in the wide spectrum of abdominal wall defects.