Stefano Giuliani - Academia.edu (original) (raw)

Papers by Stefano Giuliani

Pediatrics International, 2015

Gorlin-Goltz syndrome (GGS), also known as nevoid basal cell carcinoma syndrome (MIM 109 400), is... more Gorlin-Goltz syndrome (GGS), also known as nevoid basal cell carcinoma syndrome (MIM 109 400), is a rare genetic condition with a prevalence between 1/56 000 and 1/256 000. Clinical presentation is usually characterized by multiple basal cell carcinomas, odontogenic jaw keratocysts, palmar or plantar pitting and skeletal anomalies. It is furthermore associated with the development of various tumors beside basal cell carcinoma, among which medulloblastoma is the most frequent. Increased incidence of other mesenchymal neoplasms, however, is also well known: recently the first adult case of gastric leiomyoma in GGS was reported, and the inclusion of &amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;quot;fibromas and leiomyomas of other organs&amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;quot; in the minor criteria for the diagnosis was suggested. We report the first case of a pediatric patient with GGS who also developed a gastric leiomyoma: the present case illustrates the need for this change to the diagnostic criteria to encompass the highly variable presentations and phenotype in GGS.

Journal of pediatric gastroenterology and nutrition, Jan 31, 2016

Coagulopathy and mesenteric thrombosis are common in premature neonates with necrotizing enteroco... more Coagulopathy and mesenteric thrombosis are common in premature neonates with necrotizing enterocolitis (NEC). This pilot study aimed to investigate the hypothesis that there are changes in the gene expression related to the coagulation and anticoagulation systems in NEC. Consecutive neonates (n = 11) with NEC (Bell's stages 2-3) were recruited. Two comparison groups, matched for birth weight and corrected gestational age, were selected based on: the absence of inflammation and coagulopathy (healthy control, n = 10); or the presence of a confirmed blood infection (sepsis control, n = 12). A pathway specific quantitative PCR array was used to determine the expression of 94 genes involved in human blood coagulation and anticoagulation cascade. Twelve genes of the coagulation and anticoagulation systems were significantly altered in the NEC patients compared to healthy controls. In particular, ELANE, CD63, PROS1, HGF, F12 were significantly up-regulated (mean fold changes +2.74, p &...

The Journal of pediatrics, Jan 8, 2016

To assess the role of screening and prophylactic surgery for intestinal rotational abnormalities ... more To assess the role of screening and prophylactic surgery for intestinal rotational abnormalities (IRAs) in asymptomatic patients with heterotaxy. PubMed, Embase, and Cinahl were searched electronically to determine the overall incidence of IRAs in heterotaxy; the detection rate of IRAs associated with screening; the incidence of midgut volvulus in patients without screening; and the incidence of morbidity and mortality after prophylactic and emergency Ladd procedures. Relevant data were computed with a meta-analysis of proportions. Between-study heterogeneity was assessed with the I(2) statistic. From 276 papers identified, 24 studies with a total of 1433 patients with heterotaxy were included for systematic review. No randomized study was identified. True incidence of IRA in heterotaxy could not be ascertained through meta-analysis. In patients who underwent screening, the incidence of IRA was 58%. Acute midgut volvulus occurred in 5.8% of those who did not undergo screening. Posto...

Pediatric Surgery International, 2015

Background Pediatric surgeons and patient organisations agree that fewer centers for anorectal ma... more Background Pediatric surgeons and patient organisations agree that fewer centers for anorectal malformations with larger patient numbers are essential to reach better treatment. The European Union transacts a political process which aims to realize such centers of expertise for a multitude of rare diseases. All the centers on a specific rare disease should constitute an ERN on that disease. ARM-Net members in different countries report on first experiences with the implementation of national directives, identifying opportunities and risks of this process. Methods Relevant details from the official European legislation were analyzed. A survey among the pediatric surgeons of the multidisciplinary ARM-Net consortium about national implementation was conducted. Results European legislation calls for multidisciplinary centers treating children with rare diseases, and proposes a multitude of quality criteria. The member states are called to allocate sufficient funding and to execute robust governance and oversight, applying clear methods for evaluation. Participation of the patient organisations is mandatory. The national implementations all over Europe differ a lot in respect of extent and timeframe. Conclusions Establishing Centers of Expertise and a ERN for anorectal malformations offers great opportunities for patient care and research. Pediatric surgeons should be actively engaged in this process.

Principles of Regenerative Medicine, 2008

JAMA surgery, Jan 2, 2014

ABSTRACT Stefano Giuliani, MD PhD1, Yew Wei Tan, MD1, Dongling Zheng, PhD2, Nigel Kennea, MD1 and... more ABSTRACT Stefano Giuliani, MD PhD1, Yew Wei Tan, MD1, Dongling Zheng, PhD2, Nigel Kennea, MD1 and Yalda Jamshidi, PhD2, (1)St.George's Healthcare NHS Trust and University, London, United Kingdom, (2)St.George's University of London, London, United Kingdom Purpose: Severe coagulopathy and thrombosis of the mesentery are common findings in advanced necrotising enterocolitis (NEC) and they are associated with high morbidity and mortality. There is no knowledge about how the expression of genes involved in the coagulation and anticoagulation cascades are altered during the advanced phases of the disease. The aim of the study was to investigate differences in the coagulation and anticoagulation gene expression between advanced NEC patients and a control group. Methods: Consecutive patients with necrotizing enterocolitis stage 2 and 3 (Bell's classification) were recruited over 6 month's period. Patients included had a birth weight >800 gram and corrected gestational age (cGA) less than 37 weeks. A control group, matched for weight and cGA, was selected from infants without sepsis or coagulopathy. Each infant had a 0.5ml blood sample taken for gene expression analysis. RNA was extracted from pelleted cells for gene expression analysis using the Human Blood Coagulation 96 StellARRay qPCR array (Lonza). We employed a sensitive quantitative real-time PCR method to compare gene expression by means of a 'ÔHuman Blood Coagulation'' qPCR array. Clinical end points analysed were differences in: haemoglobin, platelet, clotting profile, laparotomy and survival between the NEC and control. Continuous data used Student t-test and Mann-Whitney U test as appropriate, nominal data used Fisher's exact test, and statistical significance was P<0.05. Results: 8 controls (median gestational age 29+6 weeks, birth weight 1165g, 23 days old) and 7 NEC (median gestation 28+4 weeks, birth weight 840g, 18 days old) were included in the study. Significantly lower platelet counts were found in the NEC compared to the control group (67 v 340 x10^9/L, p=0.002). Mortality in both groups were comparable (NEC 3/7 v control 1/8, P=0.185), with emergency laparotomy indicated in one of 7 NEC patients. 10 genes associated with the coagulation and anticoagulation cascades were identified to be significantly up or down-regulated in the NEC group compared to the controls. These were genes involved in proteolysis of extracellular matrix (up-regulation of CD63, ELANE, PLAU, ASGR2), sensors of proteolysis (down-regulation of F2RL1), activation of coagulation (F12, PROC) and platelet aggregation (down-regulation of P2RY12). Conclusion: This is the first study defining significant alterations in the gene expression of the coagulation and anticoagulation systems in patients with advanced NEC. These findings support the hypothesis that coagulopathy plays an important role in advanced NEC and points to a need for further research to understand the relationship of coagulation and NEC disease progression.

Fetal diagnosis and therapy, Jan 21, 2015

Introduction: Small bowel atresia (SBA) is one of the most common causes of congenital intestinal... more Introduction: Small bowel atresia (SBA) is one of the most common causes of congenital intestinal obstruction. However, the accuracy of prenatal ultrasound in diagnosing this condition has not been entirely ascertained. The aim of this study was to analyse the predictive accuracy of ultrasound in detecting SBA prenatally. Methodology: Retrospective study of all cases with prenatal suspicion or postnatal confirmed SBA seen in a tertiary fetal medicine and pediatric surgery units from 2007 to 2013. Cases with duodenal atresia were excluded from the study. The predictive accuracy of ultrasound and different ultrasound signs, alone and in combination, was calculated. Results: 65 fetuses with prenatal suspicion or postnatal confirmed SBA were enrolled. 58 cases had full data and were included in the analysis. Predictive accuracy of ultrasound in detecting the presence of SBA was poor, with a sensitivity of 50% (95% CI 26.0-74.0) and a specificity of 70.59% (95% CI 52.5-84.9). The presenc...

Case Reports in Medicine, 2009

Superior mesenteric artery (SMA) syndrome is an uncommon but well-recognized clinical entity. It ... more Superior mesenteric artery (SMA) syndrome is an uncommon but well-recognized clinical entity. It can lead to proximal small bowel obstruction and severe morbidity and mortality in lieu of late diagnosis and concomitant existing comorbidities. We report a 54-year-old female, with SMA syndrome which manifested itself after Nissen fundoplication along with two major complications. The diagnosis of SMA was established by clinical symptoms and radiological findings.

Transplantation, 2006

Background. The incidence of donor kidneys with vascular anomalies ranges from 18% to 30%; such k... more Background. The incidence of donor kidneys with vascular anomalies ranges from 18% to 30%; such kidneys are usually at increased risk of vascular and urological complications. The aim of this study was to determine whether the use of cadaver kidneys with vascular anomalies would adversely affect posttransplant graft and patient outcome. Methods. From October 1987 to January 2004, 241 patients underwent kidney transplantation in our pediatric surgery department. Vascular anomalies were noted in 77/241 grafts (31.9%); 50 (64.9%) had multiple renal arteries and 22 (28.5%) venous anomalies. Patients were divided into three groups: Group A (1 renal artery and vein, 1 arterial and venous anastomosis [nϭ161]), Group B (Ͼ1 renal artery or vein, 1 arterial and venous anastomosis [nϭ33]), and Group C (Ͼ1 renal artery or vein, Ͼ1 arterial and venous anastomosis [nϭ47]). We compared the three groups for: patient and graft survival, incidence of posttransplant acute tubular necrosis, vascular and urological complications, postoperative mean creatinine levels, and posttransplantation hypertension. Results. We found no significant differences among the three groups regarding episodes of acute rejection or acute tubular necrosis. Creatinine levels reached normal levels within 30 days in all the groups without any significant differences. Furthermore, patient and graft survival were excellent (100% and 97%). Conclusions. The presence of vascular anomalies and their multiple or complex repair does not represent a theoretical disadvantage even in pediatric patients. In order to maximize the quantity and quality of donor kidneys especially in pediatric population, kidneys with vascular anomalies may be implanted with very little risk.

Current Orthopaedic Practice, 2013

ABSTRACT Background: Amputation often is a treatment of last resort for vascular anomalies of the... more ABSTRACT Background: Amputation often is a treatment of last resort for vascular anomalies of the extremities and, as such, infrequently is indicated. Our purpose was to review our institutional experience with amputations for vascular anomalies in children, specifically identifying indications and reviewing outcomes. Methods: A retrospective chart review was conducted of all amputations for vascular anomalies at a tertiary pediatric surgery referral center over a 10-year period. Demographics, clinical characteristics, diagnostic imaging, operative details, and outcomes data were collected and analyzed. Results: Eight extremity amputations were performed in six patients. The male-to-female ratio was 1:1. Median age at amputation was 10.7 (2.3-16.1) years. The indications for surgery included refractory pain, nonfunctional limb, inability to ambulate, ischemia, and bleeding. The most common preoperative radiographic study obtained was MRI. Nonoperative management options such as steroid injections, sclerotherapy, or embolization failed in several patients. The median length of follow-up was 3.7 (0.6-7.9) years. One mortality occurred 1 year after amputation secondary to multiorgan system failure in a child with Bannayan-Riley-Ruvalcaba syndrome. Conclusions: Extremity amputation is a radical form of resection for complications of vascular anomalies. However, most patients experience resolution with an acceptable outcome and an improved quality of life.

Ultrasound in Obstetrics & Gynecology, 2014

The accuracy of prenatal ultrasound in detecting jejunal and ileal atresia has been reported in t... more The accuracy of prenatal ultrasound in detecting jejunal and ileal atresia has been reported in the literature to be extremely variable (25-90%). The aim of this systematic review was to evaluate the accuracy of prenatal ultrasound in detecting non-duodenal small bowel atresia (ND-SBA). MEDLINE, EMBASE and The Cochrane Library including The Cochrane Database of Systematic Reviews (CDSR), Database of Abstracts of Reviews of Effects (DARE) and The Cochrane Central Register of Controlled Trials (CENTRAL) were searched electronically. The overall detection rate of ultrasound in detecting jejunal or ileal atresia was reported. The accuracy of polyhydramnios and dilated loops of bowel was also explored. 16 studies including 640 fetuses were included in this review. Detection rate of ultrasound in identifying ND-SBA was extremely variable, with values ranging from to 10 to 100% with an overall prediction of 50.63% (95% CI 38.0-63.2). When analysed separately, the detection rates of jejunal and ileal atresia were 66.30%, (95% CI 33.9-91.8) and 25.87% (95% CI 4.0-58.0) respectively. Both dilated bowel and polyhydramnios had an overall low detection rate for these anomalies. The diagnostic performance of ultrasound in identifying ND-SBA is extremely variable. Large studies are needed in order to identify objective and combined criteria to diagnose these anomalies.