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Giuseppe Martucciello

Giuseppe Martucciello
IRCCS Istituto G. Gaslini and University of Genova · Dept. Pediatric Surgery

Professor of Pediatric Surgery

About

128
Publications
23,455
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Introduction
I was involved 25 years in the study of Neurocristopathies, Hirschsprung's Disease, Congenital Malformations, Caudal Regression Syndrome, Anorectal Malformations, Congenital Diaphragmatic Hernia, Pediatric Surgical Oncology, Multiple Endocrine Neoplasias, and Neuroblastoma. In 1994 I published on " Nature " the discovery of the first causative gene for Congenital Megacolon and Aganglionosis. In 2000 I published the discovery of the first causative gene of Currarino Syndrome.
Additional affiliations
June 2011 - November 2012
Position
  • Ospedale Universitario Parma
Description
  • Clinical and Research activity
January 2010 - June 2011
November 2004 - November 2009

Publications

Publications (128)
Article
Full-text available
Neuroblastoma (NB) is the most common extracranial solid tumor in childhood, accounting for approximately 15% of all cancer-related deaths in the pediatric population. The overall survival of children with high-risk disease is around 40–50% despite the aggressive treatment protocols. In accordance with the most recent guidelines, a complete classif...
Article
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In recent years, much research has been carried out to identify the biological and genetic characteristics of the neuroblastoma (NB) tumor in order to precisely define the prognostic subgroups for improving treatment stratification. This review will describe the major genetic features and the recent scientific advances, focusing on their impact on...
Article
Full-text available
Neuroblastoma (NB) is the most commonly occurring soft-tissue malignancy of childhood. Surgery plays an important role in multidisciplinary treatment and its principal aim is a local control of the disease, respecting the integrity of the surrounding structures. There is no unanimous consensus on the best surgical technique, and the operative appro...
Article
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Cervicothoracic neuroblastomas (NBs) pose unique surgical challenges due to the complexity of the neurovascular structures located in the thoracic inlet. To date, two main techniques have been reported to completely remove these tumours in children: the trans-manubrial and the trap-door approaches. Herein, the authors propose a third new surgical a...
Article
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Purpose To clarify the role of primary tumor resection in stage 4S neuroblastoma. Methods We investigated a cohort of 172 infants diagnosed with stage 4S neuroblastoma between 1994 and 2013. Of 160 evaluable patients, 62 underwent upfront resection of the primary tumor and 98 did not. Results Five-year progression-free and overall survival were s...
Article
Background The sternal lift by Vacuum Bell (VB) is effective, as largely demonstrated by its intraoperative use during surgical procedure to elevate the sternum during the Nuss procedure routinely. Indeed, the thoracic remodelling during VB application is comparable to post-surgical scenario, and suitable to compare cardiovascular parameters of the...
Article
Objective The aim of the present study is to describe, for the first time in paediatric age, the technique and the outcomes of the thoracophrenolaparotomic (TPL) approach for surgical resection of thoraco-abdominal neuroblastomas (NBs) in children. Methods A retrospective study was performed analysing clinical features and surgical outcomes of all...
Article
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Chylous ascites may complicate the postoperative course of abdominal surgery mainly due to the iatrogenic disruption of the lymphatic channels during extensive retroperitoneal dissection. Sparse data are available regarding treatment; however, in many cases a recommended first-line treatment approach is by way of enteral feeding, consisting of a fo...
Article
Little is known about the effectiveness of antibiotic prophylaxis for prevention of surgical site infections (SSIs) in paediatric abdominopelvic surgical oncology. A retrospective analysis was performed upon the incidence of SSIs in children receiving a 24-hour antibiotic prophylaxis with cefazolin for abdominopelvic oncological surgery. In all, 14...
Article
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The authors aim to identify criteria for the diagnosis of Intestinal Visceral Myopathy (IVM), results were compared with ultrastructural studies (US). Six IVM patients and 7 paediatric control cases (without gastrointestinal diseases) were studied. One case was a typical Megacystis-Mycrocolon-Intestinal Hypoperistalsis Syndrome (MMIHS). The diagnos...
Article
Background: Hypertension (HT) is rarely reported in patients affected by Neuroblastoma (NB), and management guidelines are lacking. Clinical features and perioperative medical treatment in such patients were reviewed to 1) ascertain whether a shared treatment strategy exists among centers and 2) if possible, propose some recommendations for the pe...
Article
HSCR is a congenital disorder of the enteric nervous system, characterized by the absence of neurons along a variable length of the gut resulting from loss-of-function RET mutations. Congenital Central Hypoventilation Syndrome (CCHS) is a rare neurocristopathy characterized by impaired response to hypercapnia and hypoxemia caused by heterozygous mu...
Article
Purpose: To evaluate the impact of image-defined risk factor (IDRF) modification after chemotherapy on surgical outcomes, event-free survival (EFS), and overall survival (OS) among patients enrolled in the European Unresectable Neuroblastoma (EUNB) study. Methods: IDRFs were assigned according to the corresponding surgical risk factors list repo...
Article
Full-text available
Introduction: Neuroblastoma in the adolescent is characterized by indolent growth and poor outcome. Surgical resection of the tumor is an essential part of the multimodality treatment. Surgical complications depend on the presence of Image Defined Risk Factors (IDRFs). Methods: We present an adolescent with pelvic neuroblastoma and epidural compres...
Article
Aim This study aims to evaluate the experience gained with video-assisted needle-core biopsy in patients affected by neuroblastoma (NB). Patient and Methods We retrospectively reviewed all the patients presenting at our center with a thoracic, abdominal, and/or pelvic NB who underwent biopsy between 2007 and 2014. Data on demographics, localization...
Article
Chronic intestinal pseudo-obstruction (CIPO) syndromes are heterogeneous gastrointestinal disorders, caused by either neuropathy or myopathy, resulting in compromised peristalsis and intestinal obstruction. CIPO can have a profound impact on quality of life, leading the most severely affected individuals to life-long parenteral nutrition and urinar...
Article
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Purpose: "Low" anorectal malformations (ARMs) are considered minor anomalies of the distal rectum and anal-canal development. Nonetheless, the prognosis of affected patients is far from excellent, as some degree of constipation is a frequent complaint in the long-term follow-up. Constipation in "low" ARM has been reported in 42%-70% of cases. Vest...
Article
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Introduction: Efficient intestinal peristalsis is a function of intact enteric nervous system, muscle, and connective muscularis propria tissue. Malfunction of any component results in impaired peristalsis. Hirschsprung disease (HD) as prototypic enteric neural migration disorder is increasingly well characterized. More recently, intestinal myopat...
Article
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Multiple Endocrine Neoplasia type 2B (MEN 2B) is an autosomal dominant complex oncologic neurocristopathy including medullary thyroid carcinoma, pheochromocytoma, gastrointestinal disorders, marphanoid face, and mucosal multiple ganglioneuromas. Medullary thyroid carcinoma is the major cause of mortality in MEN 2B syndrome, and it often appears dur...
Data
Full-text available
Additional file 1. Algorithm for diagnosis and treatment of MEN 2B. GI = gastrointestinal symptoms.
Article
We report an unusual presentation of the P wave and QRS complex during ECG-guided endocavitary assessment of the proper location of the central venous catheter in a pre-term infant operated on for esophageal atresia. The P wave and QRS complex had a normal morphology, but lay specularly to normal above the isoelectric line. The chest x-ray showed t...
Article
SPRY2 is an inducible inhibitor of signalling mediated by tyrosine kinases receptors, whose targeting causes intestinal hyperganglionosis in mice. In this light, we have undertaken a mutational analysis of the SPRY2 gene in patients affected with intestinal neuronal dysplasia (IND), without detecting nucleotide changes in any of the 26 DNA samples...
Article
The diagnosis of Hirschsprung's disease (HSCR) should take place early in the neonatal period, because without an effective diagnosis and appropriate treatment, a considerable proportion of infants will go on to develop serious complications such as acute enterocolitis or toxic megacolon. Because no more than 10 % of HSCR cases have a late presenta...
Article
Long-term results after surgical treatment of Hirschsprung disease (HSCR) are not always as good as a surgeon may perceive. Several studies have tried to correlate preoperative features to the surgical outcome of HSCR, but none came to definitive conclusions. Our study is aimed at identifying risk factors of poorer long-term outcome after surgery f...
Article
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Although Hirschsprung's disease is curable, a low mortality and a certain morbidity have been described by several authors. We will present our experience with the treatment of Hirschsprung's disease at Gaslini Children's Hospital. All patients who underwent a pull-through procedure since January 1993 were included. Data were obtained from a compre...
Chapter
The use of the abdominal extramucosal dissection of the rectal pouch was first proposed by Romualdi at the Roman Society of Surgery on 15 May 1955. The technique was first published in 1960 [1]. During the next few years, Rehbein [2] and Kiesewetter and Turner [3] also popularized this operation. In 1957, Soave started using Romualdi’s procedure fo...
Article
Hirschsprung's disease (HSCR), or aganglionic megacolon, is a classic example of a complex genetic disease, characterized by the lack of enteric ganglia in the submucosal and myenteric plexuses, along variable portions of the distal gut. Since it is caused by a premature arrest of the migration of neural crest cells along the hindgut, it is defined...
Article
The development of laparoscopic surgery has extended its uses to include adrenalectomy in children and in adults. Because conventional adrenalectomy requires a large incision, minimally invasive surgery offers a less aggressive solution in some selected cases. Twenty-nine adrenal masses in 26 children were treated using adrenalectomy between 1994 a...
Article
The proto-oncogene RET is the major gene responsible for Hirschsprung's disease (HSCR), with RET mutations also implied in different pathologies. A variety of mutations of the RET proto-oncogene have been detected in HSCR patients. Special attention should be paid to rare patients who carry mutations of one of the critical cysteine residues of thes...
Article
Das RET-Proto-Onkogen ist das zentrale für die Entstehung eines M. Hirschsprung verantwortliche Gen, wobei RET-Mutationen auch bei anderen pathologischen Läsionen vorkommen. Bei Hirschsprung-Patienten konnten eine Reihe verschiedener RET-Mutationen festgestellt werden. Besondere Aufmerksamkeit sollte denjenigen Patienten gewidmet werden, die Mutati...
Article
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Neural crest (NC) cells differentiate IN VITRO into neuroblasts, precursors of the enteric nervous system (ENS), when stimulated by specific agents. We developed a study aimed at establishing whether NC-derived neuroblasts can survive and colonise IN VIVO when injected into a recipient mouse gut. The neuroblast precursors of the ENS were obtained f...
Article
Introduction: Since Noblett (J Pediatr Surg 1969;4:406-409) described her innovative tool, rectal suction biopsy (RSB) has become the gold standard in the diagnosis of Hirschsprung's disease and other intestinal dysganglionoses. Many different instruments have been developed during the last 30 years, but none of them proved to be free of disadvant...
Article
Full-text available
X-linked alpha thalassemia mental retardation (ATR-X) syndrome is associated with profound developmental delay, facial dysmorphism, genital abnormalities, and alpha thalassemia. Patients with ATR-X syndrome frequently present with gastrointestinal problems, in particular feeding difficulties, regurgitation and vomiting, abdominal pain, distension,...
Article
Caudal regression syndrome (CRS) is a congenital heterogeneous constellation of caudal anomalies that include varying degrees of agenesis of the spinal column, anorectal malformations (ARMs), genitourinary anomalies, and pulmonary hypoplasia. The combination of a particular form of hemisacrum, ARM, and presacral mass (teratoma, anterior meningocele...
Article
The RET proto-oncogene is the major gene involved in the complex genetics of Hirschsprung disease (HSCR), or aganglionic megacolon, showing causative loss-of-function mutations in 15-30% of the sporadic cases. Several RET polymorphisms and haplotypes have been described in association with the disease, suggesting a role for this gene in HSCR predis...
Article
Anorectal malformations (ARM) present an incidence rate ranging from 1:1,500 to 1:5,000 live births, and have variable clinical presentations ranging from mild forms that might require only minor surgical interventions to more complicated cases that need to be managed with multi-staged operations.
Article
Full-text available
Anorectal malformations (ARM) are common congenital anomalies seen throughout the world. Comparison of outcome data has been hindered because of confusion related to classification and assessment systems. The goals of the Krinkenbeck Conference on ARM was to develop standards for an International Classification of ARM based on a modification of fis...
Article
Full-text available
Intestinal Dysganglionoses (IDs) represent a heterogeneous group of Enteric Nervous System anomalies including Hirschsprung's disease (HD), Intestinal Neuronal Dysplasia (IND), Internal Anal Sphincter Neurogenic Achalasia (IASNA) and Hypoganglionosis. At present HD is the only recognised clinico-pathological entity, whereas the others are not yet w...
Article
Perineal sagittal approaches (posterior sagittal anorectoplasty and anterior and posterior sagittal transanorectal approaches) allow complete anatomic exposure of the perineum and lower pelvis. Moreover, they reduce the risk of damaging important structures because the incision is led in the midline. Therefore, many surgeons have used these approac...
Article
The Currarino syndrome (CS) is a peculiar form of caudal regression syndrome (CRS) characterized by the association of hemisacrum, anorectal malformation (ARM), and presacral mass. The authors analyzed retrospectively their series, and they propose a multidisciplinary diagnostic and therapuetic protocol that until now has not been introduced. A ser...
Article
The authors analyzed the results of a modified entirely mechanical Duhamel pull-through for the treatment of Hirschsprung' disease or type B intestinal neuronal dysplasia. The aim of the follow-up was to evaluate results of a Duhamel procedure entirely performed with the use of staplers. Fifty-six patients were followed up to detect complications a...
Article
The spontaneous mouse mutant Dominant megacolon (Dom) represents the model of the Waardenburg-Hirschsprung's disease, a syndromic pathology, characterized by the association of pigmentation defects (PD), deafness, and Hirschsprung's disease (HD). The defect in Dom mouse is caused by a spontaneous mutation of the gene encoding the Sry-related transc...
Article
Peritoneal adhesions (PA) represent a major cause of morbidity in pediatric surgical patients. The pathogenesis is still largely unknown. A possible role could be played by foreign bodies (FB) accidentally contaminating the operative field during surgery. We report a histologic study of PA in a rat model and in children, investigating the role of F...
Article
Aim of this study was to investigate, for the first time, whether isolated newborn mouse enteric plexus could induce in vitro differentiation of the vagal neural crest-derived cells into enteric neuroblasts. Fragments of the myenteric plexus were isolated from the small intestine of 6-day-old Swiss mice and were collected and stored in DMEM-F12 med...
Article
Multiple endocrine neoplasia (MEN) 2B is a hereditary syndrome including medullary thyroid carcinoma (MTC), pheochromocytoma, gastrointestinal (GI) disorders, marfanoid facies, and multiple ganglioneuromas. MTC is the major cause of mortality, and often appears during the 1st decade of life. RET proto-oncogene mutations are responsible for MEN 2B....
Article
Intestinal Neuronal Dysplasia (IND) is a congenital disorder characterized by intestinal motility defects associated with hyperplasia of enteric ganglia. A phenotype resembling human IND has been observed in mice knocked-out for a member of the Hox11 homeobox gene family, Hox11l1, suggesting that the human homologue of this gene could be responsibl...
Article
Hirschsprung's disease, Intestinal Neuronal Dysplasia, Neurogenic Internal Anal Sphincter Achalasia and Hypoganglionosis are generically defined "intestinal dysganglionoses". These diseases represent different alterations of the enteric nervous system causing various degrees of constipation. The authors review the literature and describe the pathog...
Article
Intestinal neuronal dysplasia (IND) is a complex alteration of the enteric nervous system (ENS) that may involve rectum, colon, or the whole intestine. This disorder is a frequent cause of intestinal dysmotility and pseudo-obstruction in the first 3 years of life. The aim of this study was to identify possible associations and correlations of IND w...
Article
The sacral ratio (SR) was proposed by Alberto Peña in 1995 as a reliable tool to evaluate sacral development in anorectal malformations (ARM). The SR is obtained by comparing sacrum size with fixed bony parameters of the pelvis. In previous studies, the average normal SR was calculated to be 0.74 for the anteroposterior view (APSR) and 0.77 for the...
Article
Full-text available
Die weit verbreitete Acetylcholinesterase-Färbung in der Diagnose des Morbus Hirschsprung und der intestinalen neuronalen Dysplasie wurde zuerst 1964 von Morris Karnovsky und Logan Roots beschrieben. Diese Technik benötigt eine Inkubationszeit von ca. 80 - 120 Minuten und kann deshalb für die intraoperative Diagnostik eines Morbus Hirschsprung oder...
Article
Preoperative histochemistry on rectal mucosal-submucosal specimens is the most important step in the diagnosis of Hirschsprung's disease and other dysganglionoses. Today, rectal mucosal-submucosal biopsy specimens are obtained by suction with the widely used tool first designed by Noblett in the late 1960s. The authors developed a new instrument, f...
Article
Hirschsprung's disease is an inherited disorder showing incomplete penetrance and variable expressivity. Genetic mapping and mutation screening of candidate genes, together with the study of several natural and knockout animal models, clearly have shown the involvement of several different genes in the pathogenesis of Hirschsprung's disease. Among...
Article
Hirschsprung's disease is an inherited disorder showing incomplete penetrance and variable expressivity. Genetic mapping and mutation screening of candidate genes, together with the study of several natural and knockout animal models, clearly have shown the involvement of several different genes in the pathogenesis of Hirschsprung's disease. Among...
Article
This work has been supported by “Fondazione Telethon Italia” grant 297/bi, the Italian Ministry of Health, “Ricerca Finalizzata, 1996,” and the Medical Research Council of Canada (MRC). We are grateful to patients and families who provided samples for our analysis. The authors would also like to acknowledge Peter Heutink, Carol Stayton, Massimilian...
Article
The spontaneous mutant Danforth's short tail (Sd) mouse has been studied over the last 60 years from the morphological, embryological, and genetic point of view. The Sd mutation affects a gene essential to notochordal development, and the Sd mouse phenotype represents an analogue of human caudal regression syndrome. The Sd/Sd mouse presents differe...