Carmine Del Rossi

Predictors of Successful Sexual Partnering of Adults With Spina Bifida

PURPOSE We assessed sexual education and function of adults with spina bifida to identify predictors of relationships and sexual activity. MATERIALS AND METHODS A total of 290 patients with spina bifida were clustered into 6 groups based on lesion level, including men in group 1-less than L2, group 2-L3-L5 and group 3-less than S1, and women in group 4-greater than L2, group 5-L3-L5 and group 6-less than S1. Urinary continence, genital sensation and patient educational level were considered. A questionnaire on sexual education, relationship and sexual activity was administered. RESULTS No difference in the incontinence rate was noted between males and females. Men had learned sex education from friends/media (41.6%) and women had learned it from parents (37.5%) or at school (33.7%). Genital sensation was normal in 7.2%, 53.3% and 53.5% of the patients in groups 1 to 3, respectively. Patients in group 3 had more frequent sexual intercourse than those in group 1 or 2 (30% vs 14.3% and 14.2%, respectively). Genital sensation was decreased in group 4 patients compared to those in groups 5 and 6 (44.4% vs 13% and 3.5%, respectively). Patients in group 4 were more sexually active than those in groups 5 and 6 (p <0.05). Lesion level did not affect the ability to form relationships in patients of either gender. Education level was the same across all patients with no difference when male/female groups were compared by lesion level. Predictors indicated that patients with the highest chance of finding a partner and engaging in sexual activity were those with the lowest lesion level. However, all other predictors were statistically significant (p <0.05). CONCLUSIONS Sex counseling should be part of the regular medical care in patients with spina bifida. A difference exists between males and females when comparing lesion level and sexual activity.

Sexuality and Psychosocial Functioning in Young Women After Colovaginoplasty

PURPOSE We examined sexuality and psychosocial functioning in patients with Mayer-Rokitansky-Kuster-Hauser syndrome who underwent colovaginoplasty. MATERIALS AND METHODS Patients who underwent colovaginoplasty for Mayer-Rokitansky-Kuster-Hauser syndrome in Italy and Bangladesh were required to meet certain criteria, including age greater than 18 years, college degree/high socioeconomic status, procedure done by the same surgical team and a minimum 6-year followup. Outcomes were evaluated by a retrospective chart review and an English version of the female sexual function index. Psychosocial functioning was measured by an English version of a 36-item survey, including the Rosenberg Self-Esteem Scale, Beck Depression Index and Cohen Test for Life Management ability with results compared to those in 30 healthy control subjects. RESULTS Of 40 patients who answered the female sexual function index 37% were married and 12% had adopted children while 40% were sexually active, 100% were attracted to males and 7% were on self-dilation. None required pads and 80% used a home douche. Of the patients 92% reported sexual desire and 87% reported sexual arousal. Sexual confidence and satisfaction were reported by approximately 90% of the patients and partner satisfaction was considered adequate by 93%. Most patients reported satisfactory orgasm. Of the women 89% reported adequate lubrication and none reported dyspareunia. Psychosocial functioning was not statistically different between patients and controls. CONCLUSIONS Based on the scoring system outcome colovaginoplasty seems to be an excellent choice to manage vaginal agenesis and ensure good quality of general and sexual life.

A simple and safe method to visualize the inferior pouch in esophageal atresia without fistula.

Abstract The authors studied the true “dynamic” distance between the esophageal stumps in type I atresia in order to perform the delayed anastomosis at the most favorable time. The position of the inferior pouch was fluoroscopically evaluated in four patients, inserting a Hegar dilator through the gastrostomy. The superior esophageal pouch was delineated by a Replogle tube. No anesthesia was required. In all cases the procedure was simple, safe, fast, and accurate. No complications occurred, and patients could be operated upon at the optimal time.

Multiple endocrine neoplasias type 2B and RET proto-oncogene.

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 during the first years of life. RET proto-oncogene germline activating mutations are causative for MEN 2B. The 95% of MEN 2B patients are associated with a point mutation in exon 16 (M918/T). A second point mutation at codon 883 has been found in 2%-3% of MEN 2B cases. RET proto-oncogene is also involved in different neoplastic and not neoplastic neurocristopathies. Other RET mutations cause MEN 2A syndrome, familial medullary thyroid carcinoma, or Hirschsprungs disease. RET gene expression is also involved in Neuroblastoma. The main diagnosis standards are the acetylcholinesterase study of rectal mucosa and the molecular analysis of RET. In our protocol the rectal biopsy is, therefore, the first approach. RET mutation detection offers the possibility to diagnose MEN 2B predisposition at a pre-clinical stage in familial cases, and to perform an early total prophylactic thyroidectomy. The surgical treatment of MEN 2B is total thyroidectomy with cervical limphadenectomy of the central compartment of the neck. When possible, this intervention should be performed with prophylactic aim before 1 year of age in patients with molecular genetic diagnosis. Recent advances into the mechanisms of RET proto-oncogene signaling and pathways of RET signal transduction in the development of MEN 2 and MTC will allow new treatment possibilities.

Multicenter retrospective study on management and outcome of newborns affected by surgical necrotizing enterocolitis

BACKGROUND Necrotizing enterocolitis (NEC) is the most common surgical emergency in newborns and it is still a leading cause of death despite the improvements reached in the management of the critically ill neonate. The purpose of this study was to evaluate risk factors, surgical treatments and outcome of surgical NEC. METHODS We retrospectively evaluated a multicentric group of 184 patients with surgical NEC over a period of 5 years (2008-2012). Indications to operation were modified NEC Bell stages IIIA or IIIB. The main outcome was measured in terms of survival and postsurgical complications. RESULTS Data on 184 patients who had a surgical NEC were collected. The majority of patients (153) had a primary laparotomy (83%); 10 patients had peritoneal drainage insertion alone (5%) and 21 patients had peritoneal drainage followed by laparotomy (12%). Overall mortality was 28%. Patients with lower gestational age (P=0.001), lower birth weight (P=0.001), more extensive intestinal involvement (P=0.002) and cardiac diseases (P=0.012) had a significantly higher incidence of mortality. There was no statistically significant association between free abdominal air on the X-ray and mortality (P=0.407). Mortality in the drainage group was 60%, in the laparotomy group and drainage followed by laparotomy group was of 23-24% (P=0.043). There was a high incidence of stenosis (28%) in the drainage group (P=0.002). On multivariable regression, lower birth weight, feeding, bradycardia-desaturation and extent of bowel involvement were independent predictors of mortality. CONCLUSIONS Laparotomy was the most frequent method of treatment (83%). Primary laparotomy and drainage with laparotomy groups had similar mortalities (23-24%), while the drainage alone treatment cohort was associated with the highest mortality (60%) with statistical value (P=0.043). Consequently laparotomy is highly protective in terms of survival rate. Stenosis seemed to be statistically associated with drainage. These findings could discourage the use of peritoneal drainage versus a primary laparotomy whenever the clinical conditions of patients allow this procedure.

Noonan syndrome‐like disorder with loose anagen hair: A second case with neuroblastoma

Noonan‐like syndrome with loose anagen hair (NSLH), also known as Mazzanti syndrome, is a RASopathy characterized by craniofacial features resembling Noonan syndrome, cardiac defects, cognitive deficits and behavioral issues, reduced growth generally associated with GH deficit, darkly pigmented skin, and an unique combination of ectodermal anomalies. Virtually all cases of NSLH are caused by an invariant and functionally unique mutation in SHOC2 (c.4A>G, p.Ser2Gly). Here, we report on a child with molecularly confirmed NSLH who developed a neuroblastoma, first suspected at the age 3 months by abdominal ultrasound examination. Based on this finding, scanning of the SHOC2 coding sequence encompassing the c.4A>G change was performed on selected pediatric cohorts of malignancies documented to occur in RASopathies (i.e., neuroblastoma, brain tumors, rhabdomyosarcoma, acute lymphoblastic, and myeloid leukemia), but failed to identify a functionally relevant cancer‐associated variant. While these results do not support a major role of somatic SHOC2 mutations in these pediatric cancers, this second instance of neuroblastoma in NSLAH suggests a possible predisposition to this malignancy in subjects heterozygous for the c.4A>G SHOC2 mutation.

Gastric transposition as a valid surgical option for esophageal replacement in pediatric patients: experience from three Italian medical centers

Background: Esophageal replacement in children is an option that is confined to very few situations including long-gap esophageal atresia and esophageal strictures unresponsive to other therapies (peptic or caustic ingestion). The purpose of our work was to describe the experience of gastric transposition in three Italian centers. Methods: This is a retrospective study. The data were extrapolated from a prospective database. We included all patients who had undergone gastric transposition in the last 15 years. Results: In the 15-year period, eight infants and children (3 males and 5 females) underwent gastric transposition for esophageal replacement. Six patients had long-gap esophageal atresia, and two had caustic esophageal stenosis. There were no deaths in the series. Three patients had an early postoperative complication: two had a self-limited salivary fistula at three weeks, and one (a patient with jejunostomy) had a jejunal perforation treated surgically. One late complication, anastomotic stricture, was recorded that required two endoscopic dilatations. The median follow-up was 60 months (range: 18–144 months). At final clinical follow-up, six patients had no eating problems, and two patients had some difficulties with eating (jejunostomy in situ), but they underwent logopedic therapy with improved outcomes. All patients had an increase in body weight and height postoperatively. Conclusion: Our small study reports the clinical experience of three Italian centers in which gastric transposition was performed with excellent results, both in terms of surgical technique (simplicity, reproducibility, complication rate) and clinical follow-up (good oral feeding of young patients, normal social life and regular growth curves).

Diagnostic Criteria of Pediatric Intestinal Myopathies

ABSTRACT The authors aim to identify criteria for the diagnosis of intestinal visceral myopathy (IVM); results were compared with ultrastructural studies. Six IVM patients and 7 pediatric control cases (without gastrointestinal diseases) were studied. One case was a typical megacystis-microcolon-intestinal hypoperistalsis syndrome. The diagnostic path included: rectal suction biopsy, one-trocar transumbilical laparoscopic intestinal full-thickness biopsy technique. Pathological analysis included anti-alpha smooth muscle actin staining, and US study of intestinal biopsies. IVM histological examination demonstrated thinning of longitudinal muscle layer. The ratio of circular/longitudinal thickness was evaluated in all samples; in cases, this ratio presented as a mean value of 2.91, and in controls, a mean value of 1.472 (P = 0.0002). Ultrastructural diagnosis revealed variable myofibrils density in smooth muscle cells, irregularity of sarcolemma membranes, interstitial fibrosis, and myofiber disarray. The authors concluded that in IVM, circular/longitudinal thickness ratio and alpha smooth muscle actin staining can be used as significant tools to address the diagnosis.

PA31 ESOPHAGEAL PERFORATED ULCER SECONDARY TO PROLONGED DECUBITUS OF A NOT-HARMFUL FOREIGN BODY (COIN) AT THE CERVICAL ESOPHAGUS

association of a clinical picture of gastroenteritis, we set the therapeutic process by supporting the second hypothesis, while allowing for endoscopic follow up of the evolution of the lesions. Faced with rapid resolution of the findings of EGD and gastrointestinal infection, the persistence of the painful symptoms has rekindled the suspicion of gastric disease due to malposition, probably exacerbated from the episode of infection. It was then performed radiological examination which led to diagnose gastric volvulus. The patient was then sent to the pediatric surgeon for surgical correction.