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Few data are available on adverse events (AE) associated to vaccines in persons with multiple sclerosis (pwMS).to study the incidence of acute phase AE (AP-AE) related to SARS-CoV-2 mRNA vaccines in pwMS compared to a control group, and to analyze the association between AP-AE and disease modifying treatments (DMT).This was a cross-sectional study on 438 PwMS and 481 age- and sex-matched subjects not affected by dysimmune diseases that underwent two doses of SARS-CoV-2 mRNA BNT162b2 vaccine (Pfizer/BioNtech).Two hundred and twenty five (51.4%) pwMS complained of ≥1 AP-AE after the first dose, 269 (61.4%) after the second dose. A logistic regression analysis revealed that only pwMS on Fingolimod and Ocrelizumab did not show a higher risk of developing AP-AE. The likelihood to present with ≥1 AP-AE, after correcting for age and sex, was significantly higher in pwMS than controls.This study reports qualitative and quantitative features of AP-AE associated with the first and second doses of SARS-CoV-2 vaccine in a large sample of pwMS. The only risk factor identified for developing AP-AE is female gender. AntiCD-20 monoclonal antibodies and S1P inhibitors are associated with a lower risk of AP-AE occurrence.

Bone dysplasias (osteochondrodysplasias) are a large group of conditions associated with short stature, skeletal disproportion, and radiographic abnormalities of skeletal elements. Nearly all are genetic in origin. We report a series of seven children with similar findings of chondrodysplasia and growth failure following early hematopoietic stem cell transplantation (HSCT) for pediatric non-oncologic disease: hemophagocytic lymphohistiocytosis or HLH (five children, three with biallelic HLH-associated variants [in PRF1 and UNC13D] and one with HLH secondary to visceral Leishmaniasis), one child with severe combined immunodeficiency and one with Omenn syndrome (both children had biallelic RAG1 pathogenic variants). All children had normal growth and no sign of chondrodysplasia at birth and prior to their primary disease. After HSCT, all children developed growth failure, with standard deviation scores for height at or below -3. Radiographically, all children had changes in the spine, metaphyses and epiphyses, compatible with a spondyloepimetaphyseal dysplasia. Genomic sequencing failed to detect pathogenic variants in genes associated with osteochondrodysplasias. We propose that such chondrodysplasia with growth failure is a novel, rare, but clinically important complication following early HSCT for non-oncologic pediatric diseases. The pathogenesis is unknown but could possibly involve loss or perturbation of the cartilage-bone stem cell population.

Background The aim of this RCT was to determine whether elective resection following successful non-operative management of a first episode of acute sigmoid diverticulitis complicated by extraluminal air with or without abscess is superior to observation in terms of recurrence rates. Methods This was a single-centre, sequential design RCT. Patients were randomized to elective surgery or observation following non-operative management and colonoscopy. Non-operative management included nil by mouth, intravenous fluids, intravenous antibiotics, CT with intravenous contrast on arrival at hospital, and repeat CT with intravenous and rectal contrast on day 3 in hospital. The primary endpoint was recurrent diverticulitis at 24 months. Patients with a history of sigmoid diverticulitis, immunosuppression or peritonitis were not included. Results Of 137 screened patients, 107 were assigned randomly to elective surgery (26) or observation (81), and underwent the allocated intervention after successful non-operative management. Conservative management failed in 15 patients. Groups were similar in age, sex, BMI, co-morbidities and colorectal POSSUM. Rates of recurrent diverticulitis differed significantly in the elective surgery and observation groups (8 versus 32 per cent; P = 0·019) at a mean(s.d.) follow-up of 37·8(8·6) and 35·2(9·2) months respectively. There was also a significant difference in time to recurrence (median 11 versus 7 months; P = 0·015). A total of 28 patients presented with recurrent diverticulitis complicated by extraluminal air and/or abscess (2 elective surgery, 26 observation), all of whom recovered with repeat non-operative management. Conclusion The majority of patients observed following conservative management of diverticulitis with local extraluminal air do not require elective surgery. Registration number: NCT01986686 (http://www.clinicaltrials.gov).

Vitamin A is a fat-soluble micronutrient involved in the regulation of several physiologic functions, such as visual acuity, epithelial tissue integrity, immune response, and gene expression, thus playing a crucial role in childhood growth and development. Although vitamin A deficiency (VAD) in resource-limited settings is still an actual issue and represents the leading cause of preventable childhood blindness, its occurrence in high-income countries is rare, although possibly underdiagnosed because of its nonspecific early manifestations. A good awareness of VAD symptoms and risk factors could aid its early diagnosis, which is fundamental to undertake a prompt treatment and to prevent ocular complications. Nevertheless, the role of restrictive dietary habits, increasingly common in developed countries, is often overlooked in infants and children. We present a case of VAD with permanent ocular sequelae in a 5-year-old girl from a high-income country. In the case described, VAD ensued from a highly restricted diet, mainly limited to oat milk, which had been followed for more than 2 years. This child presented with ocular symptoms, opportunistic infection, anemia, poor growth, and a diffuse squamous metaplasia of the bladder; after commencing retinol supplementation, a gradual healing of clinical VAD manifestations occurred, with the exception of the ocular sequelae, which resulted in irreversible visual loss.

Background Acute mastoiditis is the main suppurative complication of acute otitis media. Its incidence ranges from 1.2 to 4.2/100.000 children/year and a rise has been reported in the last years. There are controversial data regarding risk factors for mastoiditis and its complications. Aim of the study: to evaluate demographics and clinical characteristics of children with acute mastoiditis and to identify possible risk factors for complications. Methods We retrospectively reviewed medical charts of all the children aged 1 month-14 years admitted to our Paediatric Emergency Department from January 2002 to December 2016. Results One hundred forty-seven cases (97 males and 50 females) were included in the analysis, mean age was 4.8 ± 3.6 years and 28.2% of the patients were younger than 2 years. We found an increasing number of mastoiditis per year during the last 3 years of the study. Children younger than 2 years were less treated with antibiotics for acute otitis media or treated for a shorter period (p

The inlet patch (IP) is an area of heterotopic gastric mucosa in the cervical esophagus commonly seen during upper endoscopy. Although generally asymptomatic IP has been associated with esophageal and supraesophageal symptoms and, though rare, in adult with malignant transformation. We describe two cases of recurrent episodes of laryngospasm associated with IP. In both cases there was a good response to prolonged acid suppression therapy.

Loss of function mutations in PAK3 contribute to non-syndromic X-linked intellectual disability (NS-XLID) by affecting dendritic spine density and morphology. Linkage analysis in a three-generation family with affected males showing intellectual disability, agenesis of corpus callosum, cerebellar hypoplasia, microcephaly and ichthyosis, revealed a candidate disease locus in Xq21.33q24 encompassing over 280 genes. Subsequent to sequencing all coding exons of the X chromosome, we identified a single novel variant within the linkage region, affecting a conserved codon of PAK3. Biochemical studies showed that, similar to previous NS-XLID-associated lesions, the predicted amino acid substitution (Lys389Asn) abolished the kinase activity of PAK3. In addition, the introduced residue conferred a dominant negative function to the protein that drives the syndromic phenotype. Using a combination of in vitro and in vivo studies in zebrafish embryos we show that PAK3N389 escapes its physiologic degradation and is able to perturb MAPK signaling via an uncontrolled kinase-independent function, which in turn leads to alterations of cerebral and craniofacial structures in vivo. Our data expand the spectrum of phenotypes associated with PAK3 mutations, characterize a novel mechanism resulting in a dual molecular effect of the same mutation with a complex PAK3 functional deregulation, and provide evidence for a direct functional impact of aberrant PAK3 function on MAPK signaling.

Background Posterior reversible encephalopathy syndrome is characterized by a combination of clinical-radiological findings and pathophysiologically by localized brain vasogenic edema. Many clinical illnesses may trigger the onset of posterior reversible encephalopathy syndrome and hypertension is present in about 80% of patients. Methods We describe a child with high consumption of licorice toffees who developed systemic hypertension followed by posterior reversible encephalopathy syndrome. Results This boy was hospitalized following a cluster of generalized tonic-clonic seizures. Monitoring his clinical parameters, we detected constant high blood pressure and a brain magnetic resonance scan showed a localized vasogenic edema; these symptoms suggested posterior reversible encephalopathy syndrome. He had been eating licorice toffees for a period of 4 months, consuming an estimated 72 mg of glycyrrhizic acid per day; this led to our assumption of the reason for his hypertension. Conclusion There are several reported examples of posterior reversible encephalopathy syndrome–induced licorice hypertension in adults, but none related to children. Our report examines a possible link between licorice consumption and hypertension/posterior reversible encephalopathy syndrome in children.

Juvenile dermatomyositis (JDM), an autoimmune idiopathic myositis, is characterized by rash and proximal muscle weakness. Immunohistopathology typically shows perivascular inflammatory infiltrate with predominance of CD4+ T lymphocytes, perifascicular atrophy, and upregulation of major histocompatibility complex class I. JDM has been attributed to a humoral-driven muscle microangiopathy probably implicating the type I interferon pathway. Tubulo-reticular inclusions present in endothelial cell of muscle are biomarkers of interferon exposure, and so may be an indirect data of this myopathy especially in the absence of rash and inflammatory infiltrate. We report on three patients in which electron microscopy solves the differential diagnosis among infantile myositis showing peculiar inclusions.

Objective To investigate whether preoperative noncolonic cancer stem cells in bone marrow (BM) of R0 colorectal cancer (CRC) patients are cancer cells and impact on liver metastases (LM) rates. Method Prospective data on continuous CRC patients were collected from five centres. Bone marrow aspirates, taken at laparotomy, were sent to a single lab. Noncolonic cancer stem cells were defined according to UICC. A quantity of 3 × 106 BM cells per patient was processed with monoclonal antibodies against cytokeratin 20. APC or p53 gene mutation and microsatellite instability (MSI) were assessed in primary tumours (PT) by single-strand conformation polymorphism. Noncolonic cancer stem cells in BM of PT mutation or MSI-positive patients were isolated with immunobeads coated with magnetically labelled anti-human epithelial antigen antibody and DNA-screened for mutations. Results Although 199 patients were enrolled, 162 patients were available for analysis. No patients were lost to follow-up. Twenty-five (2–170) noncolonic cancer stem cells were found in BM of 40 patients. Twenty-two patients developed LM at 36-month follow-up. Adenomatous polyposis coli (APC) or p53 gene mutation or MSI were identified in the PT of 78 patients. The same gene mutations or MSI were not found in noncolonic cancer stem cells of the BM of these patients. After adjustment, there was no significant effect of confounding factors. Noncolonic cancer stem cells in BM had no impact on LM rates, cancer-specific death rates, or all death rates. Conclusions Preoperative noncolonic cancer stem cells in BM of R0 CRC patients were not cancer cells and had no impact on LM rates.

The purpose of this article was to evaluate otological diseases in 173 patients (pts) with Turner syndrome (TS). STUDY DESIGN: One hundred and seventy-three pts, mean chronological age (CA) 12+/-6.2 yr. Patients were submitted to different therapies: GH, estrogen therapy (EE), no therapy (no tx). Seventy-nine pts (CA 11 yr) had no otological diseases. Conductive hearing loss (CHL) occurred in 38.7% (CA 11 yr) and otoscopy was: persistent secretory otitis media in 55.2%, chronic otitis media in 10.4%, pars flaccida retraction pocket in 19.4%, mostly bilateral. Cholesteatoma was present in 15%. Sensorineurinal hearing loss (SNHL) occurred in 15.6% (CA 16 yr), 11 of whom were affected by high tone loss, and 15 by loss in midfrequencies (dip between 0.5-3 kHz), bilateral in 93%. Degree of hearing loss (HL) was mild [20-40 decibel hearing level (dBHL)] in 15%, moderate (45-60 dBHL) in 31%, severe (65-80 dBHL) in 8%, profound (dBHL>85) in 2%. We found a significant association between CHL and karyotype 45, X (p

The study aim was to provide data on pattern and length of crossing of the ileocolic artery (ICA) and right colic artery (RCA) with the superior mesenteric vein (SMV). Specimens from 30 fresh human cadavers underwent corrosion casting. Methylacrylate was injected into the SMV and superior mesenteric artery (SMA). Length of crossing was measured with a scaleable ruler and copper wire. Values are mean (SD; range). ICA was present in all specimens and crossed posterior to the SMV in 19 (63.33%) of 30 specimens. Length of crossing was 17.01 (7.84; 7.09–42.89) mm. RCA was present in 19 (63.33%) of 30 specimens. RCA crossed anterior to SMV in 16 (84.21%) of 19 specimens. Length of crossing was 20.63 (8.09; 6.3–35.7) mm. ICA was always present, crossed posterior to SMV in 60% of specimens with a crossing length of 17 mm. RCA was present in 63% of specimens, crossed anterior to the SMV in 84% of specimens with a crossing length of 20 mm. Clinical implications include arterial length left behind with main nodes, arterial bleeding and safety of laparoscopic access.

We evaluated growth hormone (GH) secretion in 81 patients with Turner's syndrome (TS) (mean age 10.7+/-3.6 y) with respect to karyotype, auxological characteristics and growth response to GH treatment (1 IU/kg/wk). None of the patients had spontaneous puberty or had started replacement therapy with estrogens. Thirty-nine patients (48%) had monosomia 45X, 29 (36%) structural abnormalities of the X chromosome and 13 (16%) X mosaicism. Before the start of GH therapy, each patient underwent an evaluation of mean nocturnal GH concentration (MGHC) and 75 patients also underwent 2 pharmacological tests. MGHC of the TS patients did not differ from that of 29 prepubertal GH-deficient girls (GH peaks8 microg/l after pharmacological tests) and both groups were lower (p0.0001 and p0.0005, respectively) than MGHCs of 27 short normal girls (GH peak8 microg/l). MGHC of the patients with TS was negatively correlated (p0.001) with bodyweight excess (BWE) at multiple regression analysis. MGHC of the TS patients with BWE20% was significantly higher (p0.02) than that of the TS patients with BWE20%, but again did not differ from that of the GH-deficient patients and was lower (p0.001) than that of the short normal girls. MGHC did not significantly differ between the 3 groups subdivided according to karyotype. Forty-four percent of the TS patients showed GH responses to pharmacological tests8 microg/l. Height velocity SDS at first and second year of therapy was not influenced by MGHC levels, chronological or bone age, target height or BWE. In conclusion, spontaneous secretion in our patients with TS was lower than that of the short normal prepubertal girls and did not differ from that of GH-deficient subjects, even if we excluded overweight patients. The level of GH secretion was unable to predict GH response to treatment.

Early postoperative anastomotic complications have serious clinical implications for the patients morbidity, mortality as well as long-term results. A number of measures can be undertaken to reduce the risk of anastomotic complications, including intraoperative colorectal anastomotic integrity assessment. Methods used to assess anastomotic reliability have gradually developed from basic mechanical techniques, direct visual endoluminal inspection, to microperfusion assessment of perianastomotic tissue. Moderate benefit in terms of reduced postoperative anastomotic complications has been shown with mechanical patency testing and partly with intraoperative endoscopic visualization of colorectal anastomoses. More recently, indocyanine green (ICG) fluorescence imaging methods have emerged as major contributions to anastomotic patency assessment and intraoperative decision making during surgical colorectal procedures including decreased numbers of ileostomies.

Background: Chronic cerebrospinal venous insufficiency (CCSVI) has been proposed as a possible cause of multiple sclerosis (MS). Objectives: The CoSMo study evaluated the association between CCSVI and MS. Methods: The primary end-point of this multicentric, case-control study was to compare the prevalence of CCSVI between patients with MS, patients with other neurodegenerative diseases (ONDs) and healthy controls (HCs). Color-coded duplex sonography was performed by a sonologist and the images were sent to one of three central sonologists for a second reading. Agreement between local and central sonologists or, in case of disagreement, the predominant judgment among the three central readers, was required for a diagnosis of CCSVI. All readings, data collection and analysis were blinded. Results: The study involved 35 MS centers across Italy and included 1874 subjects aged 18–55. 1767 (94%) were evaluable: 1165 MS patients, 226 patients with ONDs and 376 HCs. CCSVI prevalence was 3.26%, 3.10% and 2.13% for the MS, OND and HC groups, respectively. No significant difference in CCSVI prevalence was found amongst the three cohorts (MS versus HC, OR = 1.55, 95%CI = 0.72–3.36, p = 0.30; OND versus HC, OR = 1.47, 95%CI = 0.53–4.11, p = 0.46; MS versus OND, OR = 1.05, 95%CI = 0.47–2.39, p = 0.99). High negative and low positive agreement was found between the local and centralized readers. Conclusions: CCSVI is not associated with MS.

OBJECTIVE: In order to ascertain the advantages of early GH treatment in Turner syndrome (TS), we started a prospective study aimed at evaluating prepubertal height gain in a cohort of 29 girls who were treated with the same pro-kilo GH dose (1.0 IU/kg per week) since they were less than 6 years old and for at least 5 years before entering puberty. PATIENTS AND DESIGN: Following a minimum of 6 months of baseline observations, 29 girls with TS were enrolled for this prospective study provided that they (a) were less than 6 years old, (b) were below -1.0 standard deviation score (SDS) for height, (c) had a projected adult height (PAH) lower than the respective target height (TH) and (d) had a height velocity (HV) lower than -1.0 SDS. All the selected girls underwent a 5-year treatment with biosynthetic GH at a stable dose of 1.0 IU/kg per week and were periodically measured during the treatment period in order to evaluate height, HV and PAH. RESULTS: After a dramatic acceleration during the 1st year, HV was attenuated during the subsequent years, reaching its nadir at the 5th year. Height deficiency under therapy progressively decreased from entry onwards, shifting from -2.4+/-0.7 to -1.0+/-1.2 SDS. In the same period, mean PAH progressively increased, although after 5 years it remained lower than the average TH. CONCLUSIONS: (a) An effective growth-promoting strategy in TS should be based on early GH treatment, as suggested by our results. (b) This strategy could result in a prepubertal normalization of height, thus allowing the appropriate timing for the induction of puberty. (c) An initial GH dose of 1.0 IU/kg per week may be suitable during the first years of therapy, as shown by our data documenting an important waning effect of GH therapy only after the 4th year of treatment. (d) No acceleration of bone maturation was observed under this treatment regimen.

Background Visceral leishmaniasis (VL) is a severe disease caused by Leishmania infantum in the Mediterranean basin, and is associated with considerable morbidity and mortality. Infantile VL may begin suddenly, with high fever and vomiting, or insidiously, with irregular daily fever, anorexia, and marked splenomegaly. Delays in diagnosis of VL are common, highlighting the need for increased awareness of clinicians for VL in endemic European countries. Case presentation We report 4 cases of young children in northern Italy presenting with persistent fever of unknown origin and diagnosed with VL by serological and molecular methods. At the time of diagnosis, these patients showed an unusual echographic pattern characterized by multiple iso-hypoechoic nodules associated with splenomegaly. Conclusion We suggest that detection of spleen nodules represents a signature of VL in infants, thus helping to diagnose systemic Leishmania infantum infection in children. Electronic supplementary material The online version of this article (doi:10.1186/s12879-014-0620-2) contains supplementary material, which is available to authorized users.

The preferential association between Turner's syndrome and congenital heart defects (CHD) have been well known since the first description by Morgagni. There are few studies about the different cardiologic problems stemming from different chromosomal patterns of X monosomies. We reviewed a large series of 136 patients with Turner syndrome without cardiologic preselection, 29 of whom had some kind of CHD (21.5%). Partial anomalous pulmonary venous drainage (PAPVD; 2.9%), aortic valve disease (stenosis and/or incompetence) (AoVD; 5. 1%), aortic coarctation (AoCo; 4.4%), and bicuspid aortic valve (BicAo; 14.7%) are much more frequent in Turner's syndrome than in the normal population, with the difference being statistically highly significant. In our cases, only the 45, X subjects showed severe CHD and multiple lesions, whereas the X-ring pattern was associated with an elevated prevalence of BicAo. Patients with X-deletion showed no signs of congenital heart malformations. Eleven patients, all with 45, X pattern, and significant CHD, underwent cardiac surgery at a mean age of 7.7 +/- 5.3 years (range 7 days-18 years) without complications. At follow-up of 3-18 years (8.6 +/- 5. 2), we were unable to observe any type of evolution of the remaining untreated cardiovascular anomalies.

Knowledge about the balance between heritable and nonheritable risk in multiple sclerosis (MS) is based on twin studies in high-prevalence areas. In a study that avoided ascertainment limitations and directly compared continental Italy (medium-prevalence) and Sardinia (high-prevalence), we ascertained 216 pairs from 34,549 patients. This gives a twinning rate of 0.62% among MS patients, significantly less than that of the general population. In continental Italy, probandwise concordance was 14.5% (95% confidence interval, 5.1-23.8) for monozygotic and 4.0% (95% confidence interval, 0.8-7.1) for dizygotic twins. Results in Sardinia resemble those in northern populations but in limited numbers. Monozygotic concordance was 22.2% (95% confidence interval, 0-49.3) probandwise, but no concordant dizygotic pairs were identified. A questionnaire on 80 items possibly related to disease cause was administered to 70 twin pairs, 135 sporadic patients, and 135 healthy volunteers. Variables positively (7) or negatively (2) associated with predisposition and concordance in twins largely overlapped and were mainly linked to infection. If compared with previous studies, our data demonstrate that penetrance in twins appears to correlate with MS prevalence. They highlight the relevance of nonheritable variables in Mediterranean areas. The apparent underrepresentation of MS among Italian twins draws attention to protective factors, shared by twins, that may influence susceptibility.

Real-time ultrasonography was performed in 142 patients with Turner syndrome, aged 0.57 to 21 years, with different karyotypes (45,X [4896], X mosaicism [17%], and X structural abnormalities [35%]). Ovarian and uterine volumes were calculated and the data collected in a mixed longitudinal and cross-sectional mode. Thirty-eight patients were followed longitudinally during pubertal age (10 to 18 years bone age) for ovarian data. Patients with Turner syndrome were divided into two groups according to the presence or absence of detectable ovaries. Patients with Turner syndrome with detectable ovaries showed the first increase in ovarian volume at about 9 years of bone age; this increase was continuous and more evident only after 14 years of age and appeared later than in control subjects. When followed longitudinally during puberty, the ovaries showed a hormonal function in some cases. Girls with X mosaicism had the highest percentage of bilateral detectable ovaries and the greatest total ovarian volume; about 50% of them had spontaneous breast appearance and 38.5% had spontaneous menarche. They showed also the lowest gonadotropin levels, when bilateral ovaries were present during puberty. On the contrary, patients with the 45,X karyotype had the lowest percentage of detectable ovaries, ovarian volume, and spontaneous breast appearance. In our patients with Turner syndrome, uterine measures increased significantly with age and this was more evident in subjects with detectable ovaries after 13 years of bone age. Compared with control subjects, they showed significantly lower uterine measures, and patients with X mosaicism had greater and more progressive increments. In conclusion, pelvic ultrasonography in Turner syndrome is particularly useful in detecting ovaries and their possible increase in volume. These data, linked with karyotype pattern and gonadotropin levels, have prognostic value in predicting the future sexual development of these patients.

Eighteen Italian patients presenting with sporadic, bilateral, simultaneous, or sequential optic neuritis (ON) were evaluated for 14 base changes in mitochondrial DNA (mtDNA) previously found associated with Leber′s hereditary optic neuropathy (LHON), aiming to identify at a molecular level LHON cases with nontypical phenotypes. During a 36-month follow-up, 11 ON patients developed clinical or laboratory features allowing diagnosis of clinically definite multiple sclerosis (MS). None was positive for any of the "primary" LHON-associated mutations. However, single or multiple "secondary" LHON-associated sequence changes at 4216/ND1, 4917/ND2, and 13708/ND5 were detected in ON and ON-MS patients. MS controls without visual failure as well as healthy control subjects harbored the same base changes at similar frequencies. In addition, coexistence of three sequence changes was found in two cases (1 ON-MS patient and 1 MS control patient). We also report finding two new neutral sequence base changes in the ND-4 gene which were identified by SSCP and confirmed by automated DNA sequence analysis. The results suggest that these secondary mutations do not contribute to MS susceptibility in these patients, but rather represent neutral mitochondrial DNA polymorphisms. In addition, whether there are biochemical abnormalities related to single and multiple secondary mtDNA sequence changes remain to be demonstrated.

This randomized controlled trial (RCT) was performed to test the hypothesis that adverse event rates following primary anastomosis (PRA) are not inferior to those following nonrestorative colon resection for perforated diverticulitis with peritonitis.Patients admitted for perforated diverticulitis with peritonitis were randomly assigned to PRA (left colon resection with PRA and loop ileostomy) or nonrestorative colon resection (left colon resection with end colostomy). The endpoint was adverse events defined as mortality and morbidity following PRA or nonrestorative colon resection and stoma reversal. The estimated sample size was 300 patients in each study arm (alpha 0.10; 90% power).During a 9-year period, 90 patients were randomly assigned to undergo PRA or nonrestorative colon resection in 14 centres in eight countries. Thirty-four PRA patients were comparable to 56 nonrestorative colon resection patients for age (P = 0.481), gender (P = 0.190), APACHE III (P = 0.281), Hinchey stage III vs IV (P = 0.394) and Mannheim Peritonitis Index (P = 0.145). There were no differences in operating time (P = 0.231), surgeries performed at night (P = 0.083), open vs laparoscopic approach (P = 0.419) and litres of peritoneal irrigation (P = 0.096). There was no significant difference in mortality (2.9 vs 10.7%; P = 0.247) and morbidity (35.3 vs 46.4%; P = 0.38) following PRA or nonrestorative colon resection. After a similar lag time (P = 0.43), 64.7% of PRA patients and 60% of nonrestorative colon resection patients underwent stoma reversal (P = 0.659). Adverse event rates following stoma reversal differed significantly after PRA and reversal of nonrestorative resection (4.5 vs 23.5%; P = 0.0589).No conclusions may be drawn on preference of one treatment over another from this RCT because it was prematurely terminated following accrual of 15% of its sample size.

The study was performed to evaluate factors influencing postoperative adverse events after Hartmann's reversal (HR).This was a retrospective study of unselected patients who underwent HR after the Hartmann's procedure (HP) for left colonic perforation with peritonitis at a single institution. Data were retrieved from an Institutional Review Board-approved database. The study end-point was postoperative adverse events, which included mortality, complications, reoperations and 30-day readmission. Lag time was defined as the time from HP to HR. The results are expressed as mean±SD.From 1997 to 2007, 204 (39.1%) of all patients who underwent the HP [60±16 years of age; 58% men; body mass index (BMI) 27.6±5.7; 2% were American Society of Anesthesiology (ASA) 1, 50.2% were ASA 2, 39.9% were ASA 3 and 7.9% were ASA 4) underwent HR at an interval of 158±107 days. There were 24 laparoscopic and 180 open HRs, with no deaths. The operating time was 167±64 min, estimated blood loss was 245±283 ml and the 30-day readmission rate was 4.9%. Eleven (5.4%) patients developed 14 (6.8%) complications and five (2.4%) of these patients required a new stoma at the time of HR or later. On multivariate analysis controlling for confounders, chronic renal failure requiring dialysis (OR=21.0; 95% CI: 1.5-284; P=0.02) was significantly associated with increased adverse events.The study showed that chronic renal failure requiring dialysis was the only independent predictor of postoperative adverse event rates following HR.

This study aimed to evaluate circumferential resection margin (CRM) involvement in patients with rectal adenocarcinoma after laparoscopic abdominoperineal excision (APR). Prospectively collected data were analyzed on consecutive patients who underwent laparoscopic APR for histologically proven rectal cancer following neoadjuvant chemotherapy, from 1998 to 2006. Patients with no sphincter involvement were not included and underwent intersphincteric resection with coloanal anastomosis. CRM involvement was defined as ≤ 2 mm using a standardized pathology protocol. Data were presented as mean ± SD or as median (range).Seventy-four patients (60 ± 14 years of age; body mass index = 29.7 ± 7.9 kg/m(2) ) underwent laparoscopic APR. The distance of the tumour from the anal verge was 3.1 ± 0.93 cm. All patients had sphincter involvement. The operative time was 180 ± 73 min, and estimated blood loss was 269 ± 149 ml. There were no conversions and no postoperative mortality. The adverse event rate was 11%. There were two reoperations and three readmissions. Seventy-one patients had a T3 tumour and three patients had a T4 tumour. The median tumour size was 3.1 (range, 0-10) × 3 (range, 0-8.5) × 2 (range, 0-3.6) cm, and 26 (range, 3-41) lymph nodes were harvested. The median CRM was 7 (range, 1-11) mm. This was localized at the waist of the specimen in 12 (16.2%) of patients. Adjuvant therapy was given to 92% and 97% of patients with an involved and an uninvolved CRM, respectively. At 50 ± 27 months of follow up of 73 patients, 12 had CRM involvement and had a significantly decreased cancer-specific survival (log rank test, P = 0.002).Laparoscopic APR resulted in CRM involvement in 16.2% of patients with rectal cancer.

Mowat–Wilson syndrome (MWS; OMIM #235730) is a genetic condition caused by heterozygous mutations or deletions of the ZEB2 gene, and characterized by typical face, moderate-to-severe mental retardation, epilepsy, Hirschsprung disease, and multiple congenital anomalies, including genital anomalies (particularly hypospadias in males), congenital heart defects, agenesis of the corpus callosum, and eye defects. Since the first delineation by Mowat et al. [Mowat et al. (1998); J Med Genet 35:617–623], ∼179 patients with ZEB2 mutations, deletions or cytogenetic abnormalities have been reported primarily from Europe, Australia and the United States. Genetic defects include chromosome 2q21–q23 microdeletions (or different chromosome rearrangements) in few patients, and ZEB2 mutations in most. We report on clinical and genetic data from 19 Italian patients, diagnosed within the last 5 years, including six previously published, and compare them with patients already reported. The main purpose of this review is to underline a highly consistent phenotype and to highlight the phenotypic evolution occurring with age, particularly of the facial characteristics. The prevalence of MWS is likely to be underestimated. Knowledge of the phenotypic spectrum of MWS and of its changing phenotype with age can improve the detection rate of this condition. © 2009 Wiley-Liss, Inc.

Mild insulin resistance appears to be an early metabolic defect in girls with Turner syndrome (TS). Impaired glucose tolerance has been reported in 10–34% of patients with TS, and type 2 diabetes mellitus is 2–4 times more common and occurs at a younger age in girls with TS than in the general population. In a mixed longitudinal and cross-sectional study, we analysed carbohydrate tolerance and insulin sensitivity in 46 children and adolescents with TS who reached their final height after long-term treatment (mean 6.3 ± 2.5 years) with growth hormone (GH: 0.33 mg/kg/week [0.05 mg/kg/day]), and in 36 of these patients who were followed-up after the cessation of GH therapy (mean follow-up, 2.6 ± 2.5 years; range, 1–9.5 years). Patients with TS were compared with an age-matched female control group. Insulin sensitivity appeared to be lower in patients with TS than in controls, even before the start of GH therapy. As in controls, insulin sensitivity decreased with age in patients with TS, and levels were lower in those aged >12 years than in those aged

A prospective assessment of the impact of laparoscopic colon resection (LCR) was carried out in order to quantify immediately recognizable benefits and limitations of this approach.Elective LCR was attempted in 95 selected patients (mean age 64 years, range 39-81 years) presenting with benign disease of the colon. A completely intracorporeal approach was adopted. Results were compared with a control group of 90 patients who had previously undergone open colectomy (OC) by the same surgeons at the same institution.There were no perioperative deaths. Intraoperative complications included difficult extraction of accidentally detached anvil (n = 1), air leak at colonoscopy (n = 2), and conversion to OC (n = 1). Operating time was significantly longer after LCR compared with OC (180 +/- 10.3 vs 116 +/- 97, p0.001). Passage of flatus (3.5 +/- 1.2 days vs 4.4 +/- 1.4, p0.5) and morbidity (4 vs 3, p = 0.48) were not significantly different in the two groups. Hospital stay was significantly shorter after LCR (5.2 +/- 1.3 days vs 12.2 +/- 1.9 days, p0.001). Theater and ward costs were, respectively, significantly increased ($2,829.6 +/- 340 vs $1,422 +/- 318, p0.001) and decreased ($2,600 +/- 366 vs $6,022 +/- 916, p0.001) in LCR patients compared with the OC group. There was no significant difference in total hospital costs ($10,929 +/- 369 vs $9,944 +/- 1,014).LCR does not appear to offer any immediately recognizable advantages.

The identification of Y-chromosome material is important in females with Ullrich-Turner syndrome (UTS) due to the risk of developing gonadoblastoma or other gonadal tumors. There is controversy regarding the frequency of the Y-chromosome-derived material and the occurrence of gonadoblastoma in these patients. The aim of our study was to evaluate a large number of patients with UTS, followed before and during the pubertal age for the prevalence of Y-chromosome derived material, the occurrence of gonadoblastoma, and the incidence of possible neoplastic degeneration. An unselected series of 171 patients with UTS (1-34 years old), diagnosed cytogenetically, was studied for Y-chromosome markers (SRY and Y-centromeric DYZ3 repeats). The follow-up was of 2-22 years; 101 of these patients were followed during pubertal age. Y-chromosome material was found in 14 patients (8%): 12 of these were gonadectomized (2.8-25.9 years). A gonadoblastoma was detected in four patients under 16 years of age: in two, Y-material was detected only at molecular analysis (at conventional cytogenetic analysis, one was included in the 45,X group and one in the X + mar group) and one had also an immature teratoma and an endodermal sinus carcinoma. The prevalence of gonadoblastoma in our series of gonadectomized UTS patients with Y-positive material was of 33.3% (4/12). Our data suggest that the age of appearance and the possibility of malignant degeneration of gonadoblastoma can occur early in life. These patients, in particular those with 45,X or a marker chromosome may benefit from molecular screening to detect the presence of Y-chromosome material; PCR is a rapid and inexpensive technique. At the moment, laparoscopy and preventive gonadectomy performed as soon as possible remain the procedures of choice for patients with UTS, when Y-chromosome has been identified, as we are still unable to predict a future malignant evolution of gonadoblastoma.

Intra-articular angioma, or vascular hamartoma, is a tumor-like lesion essentially made up of anomalous blood vessels localized in the joint capsule, in the synovial membrane, or in both structures. There are two anatomical varieties: one circumscribed localized and one extended. There seems to be predilection for the female sex, and age of onset ranges from birth to 20-30 years of age; it occurs more frequently in the knee, less in the elbow, in the wrist and in the ankle. Symptoms, which often begin after local trauma, include joint swelling and pain, both characterized by discontinuity and long duration. Sometimes there is an increase in swelling, repeated episodes of hemarthrosis (or hydrarthrosis), forced position and functional limitation of the joint, increase in skin temperature. Final diagnosis can only be obtained with histological examination, although MRI may be useful and arteriography clearly reveals it, if the harmatoma is extended enough and communicating with the circulation. Histological examination carried out on fragments of tissue taken in loco reveals a labyrinthine agglomerate of fissures and lengthening cavities, with walls that are generally thick and of a venous-like anomalous type. The course of the disease is slow, with periods of remission of local symptoms of varying duration. Treatment is surgical and it consists in complete removal when possible of the angiomas. The results, particularly in the localized form, are satisfactory; recurrence is infrequent and it is generally due to incomplete excision of the neoformation.

We present three children with short stature, the same facial phenotype, macrocephaly, enlarged cerebral spinal fluid spaces, short neck with redundant skin, severe GH deficiency, mild psychomotor delay with attention deficit/hyperactivity disorder (ADHD), mild dilatation of the pulmonary root in two of them, and a unique combination of ectodermal abnormalities. Their appearance, not completely typical of Noonan syndrome, the behavioral phenotype, GH deficiency, darkly pigmented and hairless skin, and the unusual aspect of the hair, defined as loose anagen hair syndrome did not fit any known condition. We postulate that these children may represent a distinct, previously unreported syndrome that we would name "Noonan-like syndrome with loose anagen hair".

Anterior resection for the treatment of full thickness rectal prolapse has been around for over four decades. 1 However, its use has been limited due to fear of anastomotic leakage and related morbidity. It has been shown that high anterior resection is preferable to its low counterpart as the latter increases complication rates. 2 Although sparing the inferior mesenteric artery in sigmoid resection for diverticular disease has been shown to decrease leak rates in a randomized setting, 3 vascular division is current practice. We shall challenged this current practice of dividing the mesorectum in anterior resection for complete rectal prolapse developing a technique that allows the preservation of the superior rectal artery.

Needleholders with in-line handles (ILH) and those with pistol-grip handles (PGH) were compared in terms of operative end-product quality (OEPQ), procedure effectiveness (PE), and surgeon forearm workload (SFWL) during suturing in a laparoscopic simulator.A 90% power crossover design at alpha 0.05 required 46 surgeons. Block randomization generated ILH-PGH or PGH-ILH sequence allocation. The task involved suturing a perforated ulcer on a foam stomach in a simulator. In this study, OEPQ was measured by tissue damage, accuracy error, water leak; PE by operating time and motion analysis including goal-directed actions (GDA) and non-goal-directed actions (NGDA); and SFWL by electromyogram (EMG) of six forearm and thumb muscles.The 46 surgeons performed the tasks as allocated. All the variables but two were significantly different between the first and second tasks, ignoring the handle type. There was no evidence of an unequal carryover effect when the comparison was stratified by ILH-PGH or PGH-ILH sequence. As compared with ILH, PGH tissue damage (0.1 vs 0.2 mm; p = 0.06) and NGDA (1 vs 1 p = 0.09) were different, whereas accuracy error, leak rates, operating time, GDA, and EMG were not.As compared with ILH needleholders, the use of PGH needleholders led to increased tissue damage and non-goal-directed actions during a suturing task in a simulator.

Developmental reading disability (dyslexia) has traditionally been attributed to impaired linguistic skills. Recent psychophysical data suggest that dyslexia may be related to a visual perceptual deficit. A few visual evoked potential (VEP) studies have addressed this hypothesis, but their results are far from consistent. We submitted 9 dyslexic subjects and 9 age- and sex-matched normal controls to checkerboard pattern reversal VEPs. The main experimental variables were: large (0.5 cycles per degree; cpd) and small (2 cpd) checks and two reversal frequencies (2.1 Hz and 8 Hz); mean luminance and contrast (60 cd/m2 and 50%, respectively) were kept constant in all four conditions. Transient VEP (2.1 Hz) parameters did not differ between controls and dyslexics at 2 cpd. At 0.5 cpd, N70 amplitude was significantly smaller and N70 latency significantly shorter in dyslexics. Amplitudes for the fundamental frequency (8 Hz), as well as for the second and third harmonics of the steady-state VEPs were smaller in dyslexics for both stimulus sizes. A discriminant analysis correctly classified each subject. Our data confirm the hypothesis of a perceptual deficit in dyslexic subjects. The abnormalities are related to spatial and temporal stimulus frequencies: they appear when large stimuli are presented, or when the stimulation frequency is high. These data support the hypothesis of selective magnocellular dysfunction in dyslexia.

The aim of this prospective study was to determine the feasibility and the complications or benefits of laparoscopic colectomy for sigmoid diverticulitis in patients aged 75 years or more.From January 1993 to December 1999, 85 patients underwent an elective colectomy for sigmoid diverticulitis. Twenty-two patients over 75-years old (group 1) were compared to 63 younger patients (group 2).In group 1, there were 12 women and 10 men, with a mean age of 77.2 years (range: 75-82); In group 2, there were 35 women and 28 men, with a mean age of 53.7 years (range: 38-74) (P = 1.10-14). The operative time was shorter in group 2 (183 vs. 234 min). There was no difference between the 2 groups with regard to the postoperative period during which parenteral analgesics were required (5.4 vs. 5.2 days, P = 0.48) and the postoperative morbidity (18% vs. 14%, P = 0.06). Postoperative length of hospital stay (13.1 vs. 8.8 days, P = 0.003) was shorter in group 2 than in group 1. There was no perioperative mortality. Conversion rate was 9% (group 1) and 6% (group 2) (P = 0.6).In summary, data from the present study suggest that laparoscopic colectomy for sigmoid diverticulitis can be applied safely to older patients with fewer complications, less pain, shorter hospital stay and a rapid return to preoperative activity levels.

The aim of this prospective comparative study was to assess the outcome of laparoscopic colectomy for sigmoid diverticulitis in normal-weight, overweight, and obese patients.From January 1995 to December 2000, all patients (n = 77) undergoing an elective colectomy for sigmoid diverticulitis were enrolled in the study. The patients were divided into three groups: Group 1 (n = 29) consisted of healthy, normal-weight patients (BMI, 18-24.9); group 2 (n = 27) consisted of overweight patients (BMI, 25.0-29.9); group 3 (n = 21) consisted of obese patients (BMI, 30.0-39.9). Groups 2 and 3 were compared with group 1.Group 1 was comprised of 13 women and 16 men with a mean age of 58.4 years (range, 37-78); group 2, was comprised of 13 women and 14 men with a mean age of 55.2 years (range, 31-83); group 3, was comprised of 13 women and 14 men with a mean age of 54.1 years (range, 33-86). There was no difference among the three groups in ASA classification, postoperative length of hospital stay, or inpatient rehabilitation. The operating time did not differ for groups 1 and 2 (187 vs 210 min, p = 0.6), but it was shorter in group 1 than in group 3 (187 vs 247 min, p = 0.003). The conversion rate was similar for all three groups: 17.2% in group 1, 14.8% in group 2, and 19% in group 3. The postoperative period during which parenteral analgesics were required did not differ between groups 1 and 2 (5.7 vs 7.7 days, p = 0.1), but it was longer for group 3 (8.5 days, p = 0.03). The morbidity rate was similar for all three groups: 17.2% in group 7, 14.8% in group 2, and 19% in group 3. There were no perioperative deaths.Data from the present study suggest that laparoscopic colectomy for sigmoid diverticulitis can be applied safely in overweight and obese patients

Pro- and anti-inflammatory cytokines are thought to participate in the development and regulation of autoimmunity in multiple sclerosis (MS), a demyelinating disease of the central nervous system (CNS). We analysed the percentage of interferon (IFN)-gamma and interleukin (IL)-4-producing cells in the peripheral blood of both active and stable MS patients, and of healthy controls. After short-term stimulation, cytokine-producing cells were intracellularly stained and sorted. Significantly lower percentages of IFN-gamma and IL-4-producing T cells were found in stable MS patients than in controls, and in active than in stable patients. The diminution affected CD4(+) (Th1, Th2) and CD8(+) (Tc1) phenotypes. Tc2 cells were not detected. The Th1/Th2 ratio did not differ in active and stable MS, nor in controls. The fact that Th2 and Tc1 cell percentages were higher in stable than in active MS possibly indicates that these cells play a downmodulating role in the immune response. In contrast, a role in exacerbating the immune response is not attributable to Th1 cells, given their reduction in acute MS. Our data do not support the hypothesis that MS is a Th1/Th2 paradigmatic disease; rather, they suggest that sequestration in the CNS, or activation-induced apoptosis (whether in vivo or in vitro) may explain reduced levels of IFN-gamma and IL-4-producing subsets in the peripheral blood of clinically acute patients.

The aim of this retrospective study was to analyse the characteristics, treatment and prognosis of early gastric carcinoma, based on an analysis of our surgical results.Between 1973 and 1994, 102 patients (68 males, 34 females) with a mean age of 65 years, were operated on for an early gastric carcinoma. Mean follow-up was 7 years. Survival was calculated using the Kaplan-Meier method. Prognosis was determined with univariate and multivariate analysis according to the Cox model.The carcinoma was limited to the mucosa in 57 patients (56%) and extended to the submucosa in 45 (44%). There was a lymph node invasion in 17 patients (16.5%). The post-operative mortality rate was 5.8% (n = 6). Secondary deaths occurred in relation with the gastric cancer in 10.4% (n = 10). The 5- and 10-year survival rates were 84% and 68.6%, respectively. Univariate analysis of prognosis factors showed a significant survival difference according to the age (p = 0.001); submucosal extension (p = 0.03), lymph node invasion (p = 0.0005) and type of gastric resection performed (p = 0.03). With multivariate analysis of prognostic factors, advanced patient age and lymph node metastases were the only independent factors for survival (p = 0.0002 and p = 0.002, respectively).Prognosis of early gastric cancer is usually excellent. Patients with high risk of recurrence may be identified in relation to lymph node invasion. We propose that lymph node dissection is necessary in addition to gastric resection, at least in patients with high risk of lymph node metastasis.

Background: To assess the outcome of endoscopic retrograde cholangiography (ERC) before laparoscopic cholecystectomy (LC) for symptomatic gallbladder and suspected duct stones. Methods: During 3 years, one or more of four criteria led to ERC: jaundice, choledocus >8 mm, cholestasis, and severe biliary pancreatitis. Endoscopic extraction (ESE) of ductal stones was attempted before LC. Results: In all, 990 patients were prospectively included. There were no exclusions. There were no deaths. A multivariate logistic regression analysis identified jaundice ( P = 0.001), pancreatitis ( P = 0.001), and cholestasis ( P = 0.001) as statistically significant predictors of ductal stones. Choledocus >8 mm was not a significant predictor ( P = 0.12). A total of 155 (16%) patients underwent ERC for suspected stones: 21 of 155 (13%) patients had no stones; and 6 of 134 (4%) patients had stone impaction cleared at open surgery. ERC clearance rate was 95% (128 of 134). LC was performed in 149 of 155 patients after a median interval of 3 days (range 1 to 7). Morbidity rates were 3% (4 of 134), 2% (3 of 149), and nil (0 of 6) after ESE, LC, or open surgery, respectively. Median hospital stay was 11 days. A total of 835 patients underwent LC with a 1.5% complication rate. Laparoscopic fluoro-cholangiography showed ≤3 mm-sized stones in 10 of 835 (1.2%) patients. No stones were reported at a median follow-up of 4 months including 990 patients. Conclusions: Ninety-five percent of patients with ductal stones can be successfully and safely managed by ERC prior to LC.

Henoch-Schonlein purpura (HSP) is a widespread necrotizing vasculitis affecting small vessels characterized by nonthrombocytopenic purpura. Pulmonary involvement is a rare fatal complication with diffuse alveolar haemorrhage. The objective of this study was to evaluate possible early lung function abnormalities and to establish any relationship with the clinical activity of the disease. Fifteen children with HSP and without clinical or radiological evidence of lung involvement underwent pulmonary function study at the onset of the disease. A sample of 28 subjects matched by age, height, and weight was chosen as a control group. After a mean of 21 months (range 12-43) lung function tests were repeated in 10 of the previously studied children. During the acute phase of the disease the transfer factor for carbon monoxide, measured by steady-state (TL,COss) and single-breath (TL,COsb) methods, was found to be significantly lower in children with HSP than control subjects. There was no significant relationship between pulmonary function tests with symptoms and signs at onset, nor was there any correlation between variables and serum immunoglobulin A (IgA) concentration. In all but two patients, clinical recovery was observed within 6 weeks from the onset of the disease. In one case relapses of purpuric skin lesions were observed during the first 3 months of follow-up. The second case had relapses of purpuric skin lesions and microscopical haematuria during the 12 months following the onset of the disease with characteristic IgA mesangial deposition on renal biopsy. Although the overall mean value of TL,COsb improved from baseline to the second investigation, in both patients the recurrences of clinical signs were associated with a slight impairment of TL,COsb at the second evaluation. These data suggest an early subclinical lung impairment in children with Henoch-Schonlein purpura during the active phase of the disease. The presence of isolated pulmonary function abnormalities was not associated with the subsequent development of lung disease.

Demyelination is the main pathological feature of multiple sclerosis (MS), a chronic inflammatory disease of the central nervous system. Tumor necrosis factor-alpha (TNF-alpha) can cause myelin damage and contribute to MS pathogenesis. We measured plasma and cerebrospinal fluid (CSF) levels of TNF-alpha and its soluble receptors, TNF-sRp55 and TNF-sRp75, in 18 patients with active MS, and in neurological and healthy controls. The same determinations were repeated on plasma and on CSF samples that were collected after the MS patients had ended a six-day treatment with high-dose methylprednisolone (MP). Pre- and post-treatment plasma and CSF TNF-alpha levels, when detectable, and those of TNF-sRp75, did not vary, and were similar to those of controls. CSF TNF-sRp55 levels were higher in acute MS patients than in controls. Post-treatment CSF TNF-sRp55 levels were higher than in the active phase of the disease. The MS patients, who clinically improved, tended to have the highest CSF TNF-sRp55 levels. The increase was due to intrathecal TNF-sRp55 synthesis. Although it is involved in MS pathogenesis, TNF-alpha is not detectable in plasma or in CSF samples from MS patients in various phases of the disease. A better marker of disease activity seems to be CSF TNF-sRp55 levels. The increased CSF levels of TNF-sRp55 in response to MP circumstantially suggest that this receptor could partially account for the beneficial effects of MP in acute MS.

A technique of thoracic splanchnicectomy under video thoracoscopic control is reported. This simple and non aggressive procedure is indicated for very painful forms of pancreatic cancer and for some cases of chronic pancreatitis. It should relieve pain for a longer period than splanchnic nerve injection or radiotherapy.

To assess short-term outcome of open (OGJ) versus laparoscopic (LGJ) gastrojejunostomy in palliation of gastric outlet obstruction (GOO) caused by advanced pancreatic cancer, 22 OGJ patients were compared with 9 diagnosis-matched LGJ controls operated on at the same hospital between 1991 and 1996. Patients undergoing OGJ and LGJ were comparable for age, gender, weight, American Society of Anesthesiologists grading, and previous extensive abdominal surgery, but not for gastroenterostomy performed as a prophylactic procedure (9 vs. 0, respectively). Mortality (5 vs. 1, p = 1.5), overall morbidity (9 vs. 3, p = 0.42), operating time (113.6 +/- 24.5 minutes vs. 125 +/- 15.2 minutes, p0.5), time to oral solid food intake (7.2 +/- 0.9 days vs. 5.3 +/- 1.3 days, p0.5), nonsteroidal anti-inflammatory drug consumption (7,563.6 +/- 3,381.3 mg vs. 2,044 +/- 673 mg, p0.5), opioid consumption (688.5 +/- 258.6 mg vs. 2,910.5 +/- 2,659.9 mg, p0.5), delayed-return gastric emptying (5 vs. 1, p = 0.12), postoperative hospital stay (14.6 +/- 1.9 days vs. 10.1 +/- 1.8 days, p0.5), survival (5.7 +/- 0.8 months vs. 4.6 +/- 0.6 months, p0.5), and further hospital stay before death (9.8 +/- 3.3 days vs. 11.6 +/- 3.4 days, p0.5) were not significantly different in 22 OGJ and 9 LGJ patients, respectively. Estimated blood loss was significantly lower in LGJ patients (270.2 +/- 45.8 ml vs. 66 +/- 15.7 ml, p0.01). When 13 of 22 patients undergoing OGJ for treatment were compared with 9 LGJ patients, only estimated blood loss (p0.01) and hospital stay (p0.05) were significantly reduced in LGJ patients. Recurrent GOO before death occurred in one patient (1 of 22, 4.5%) 9 months after OGJ. LGJ for palliative treatment of GOO in advanced pancreatic cancer offered (in spite of the learning curve) reduced estimated blood loss and hospital stay when compared with OGJ.

The laparoscopic approach has emerged as an alternative to trephine stoma construction. In the present series, eight patients underwent laparoscopic faecal diversion. We performed two endsigmoidostomies and six sigmoid loop ostomies. Indications for diversion included inoperable obstructing pelvic carcinoma in three patients, perianal fistulas in another three--and faecal incontinence in one patient. A temporary loop-sigmoidostomy was performed in one patient after anal sphincteroplasty. Three or four ports were used. After mobilisation, the sigmoid colon was pulled through the abdominal wall. When an end-sigmoidostomy was performed the bowel was transected intra-abdominally. There were no operative complications and all stomas functioned early and well. Laparoscopic sigmoidostomy is safe and allows intra-abdominal exploration and mobilisation of the colon without the inconvenience of a mid-line surgical wound.

We studied 100 multiple sclerosis outpatients in order to assess the frequency of fatigue and to detect its relationships with other clinical findings. Fatigue was quantified by fatigue severity scale (FSS; range 1-7); current clinical neurological status and disability level were respectively scored by Kurtzke's functional systems and expanded disability status scale (EDSS). FSS mean score was 4.12; fatigue was totally absent in 3% of the patients. Fatigue started before onset of the disease in 7 patients, at onset in 12 and within the first year in 7. Fatigue intensity and frequency were related to each other. FSS mean scores were significantly higher in the patients with fatigue worsened by heat (p0.01), with chronic progressive disease (p0.0001), with motor symptoms (p0.0001) and with EDSSor = 3.5 (p0.0001). Multiple regression analysis showed a significant effect of EDSS on fatigue (p0.0001), not attributable to differences in duration of the disease.

We present a girl with lax, redundant skin, ectropion, bulbous nose, macrostomia, and absence of mammary glands. To our knowledge, she represents the fourth described case of Barber-Say Syndrome (BSS). BSS and ablepharon macrostomia syndrome (AMS) share common and distinctive clinical manifestations that involve the same structure of the skin and adnexa. We hypothesize that they may derive from a defective regulation of the same gene.