Search

An increased incidence of multiple sclerosis (MS) has been reported in patients with myasthenia gravis (MG). We reviewed records of 214 patients with MG. CNS demyelinating disease (CNSDD) occurred in five patients (2.3%). CNSDD always occurred after the diagnosis of MG. Myelitis (including recurrent myelitis) was the most common CNS manifestation. All patients had antinuclear antibodies. CNSDD occurs more frequently in patients with MG and may be related to immune-modulating treatments including thymectomy.

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.

Developmental syndromes are characterized by numerous phenotypical signs and malformations. In most of them such as Turner, Noonan, Prader-Willi, Silver-Russel, Williams, Kabuki, Leri-Weill syndrome and skeletal dysplasias, short stature is a common feature. Growth defect is very often related to a defect in cellular growth, but some unknown abnormality in GH action is possible. Recently, the greater availability of recombinant GH has expanded the interest towards GH secretion and therapy also in developmental syndromes. We recognize syndromes associated with GH deficiency (GHD), showing a developmental midline defect such as Pallister-Hall syndrome, septo-optic dysplasia, but many of these conditions do not have a convincing link with GHD. Moreover, some conditions, in particular the well-studied Turner syndrome, that do not have a real GHD, have proven to benefit from GH therapy at supra-physiological doses obtaining a higher final height than the expected one according to the natural history. This has expanded the indications for GH therapy. The aim of our paper is to review the literature on GH secretion, on the effects and costs-benefits of GH therapy in many dysmorphic syndromes, presenting some results of GH secretion and therapy obtained in our experience.

Re-invented in the early 1990s, on both sides of the Atlantic, Monolithic Active Pixel Sensors (MAPS) in a CMOS technology are today the most sold solid-state imaging devices, overtaking the traditional technology of Charge-Coupled Devices (CCD). The slow uptake of CMOS MAPS started with low-end applications, for example web-cams, and is slowly pervading the high-end applications, for example in prosumer digital cameras. Higher specifications are required for scientific applications: very low noise, high speed, high dynamic range, large format and radiation hardness are some of these requirements. This paper will present a brief overview of the CMOS Image Sensor technology and of the requirements for scientific applications. As an example, a sensor for X-ray imaging will be presented. This sensor was developed within a European FP6 Consortium, intelligent imaging sensors (I-ImaS). © 2007 Elsevier B.V. All rights reserved.

I-ImaS (Intelligent Imaging Sensors) is a European project which has designed and developed a new adaptive X-ray imaging system using on-line exposure control, to create locally optimized images. The I-ImaS system allows for real-time image analysis during acquisition, thus enabling real-time exposure adjustment. This adaptive imaging system has the potential of creating images with optimal information within a given dose constraint and to acquire optimally exposed images of objects with variable density during one scan. In this paper we present the control system and results from initial tests on mammographic and encephalographic images. Furthermore, algorithms for visualization of the resulting images, consisting of unevenly exposed image regions, are developed and tested. The preliminary results show that the same image quality can be achieved at 30-70% lower dose using the I-ImaS system compared to conventional mammography systems. © Springer-Verlag Berlin Heidelberg 2007.

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 aim of our study on early treatment with growthhormone (GH) alone in Turner syndrome (1) was toverify whether early GH therapy allows full catch-upgrowth before starting the induction of puberty or itsspontaneous onset.The attainment of this goal was evaluated on thebasis of both height deficiency reduction under therapyand the decreased prevalence of patients with short sta-ture at the end of therapy.On the contrary, data concerning the prediction ofadult stature were not kept into any consideration inorder to demonstrate the efficacy of early GH therapy,since predicting final height in any individual is farfrom an exact science.Abbott et al. (2) have objected to the fact that pre-dicted adult height in our study was calculated atyearly intervals. According to their comments, in fact,our girls under GH therapy were growing very differ-ently to the untreated girls from which the Lyonequation is derived.From a methodological point of view this criticismis correct, but it is to be underlined that thismethodological remark cannot minimally invalidatethe conclusions of our study, which were not basedon the evolution of predicted height under GHtreatment.Moreover, as clearly written in the legend to Table 2,significance levels for predicted adult height in ourstudy were not calculated at yearly intervals, butwere calculated between baseline values and the onesrecorded at a time when GH treatment had beenwithdrawn.

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.

We report the diagnostic clinical features and their long term evolution in 32 patients with McCune-Albright syndrome. Patient data are made up of two periods: the first, classified as personal history, is from birth until the time when the diagnosis of McCune-Albright syndrome was made; the second, classified as clinical observation, is from the first observation until the end of follow up. The total duration of these two periods was 9.6+/-2.9 yr; mean age at first observation was 5.7 yr (range 0.7-11 yr). The probability of manifesting main clinical signs according to age was calculated: almost all had skin dysplasia at birth, 50% probability of peripheral precocious puberty in females at 4 years and 50% of bone dysplasia at 8 years of age were found. Other clinical signs had diagnostic relevance when preceding the main signs leading to diagnosis of McCune-Albright syndrome even without specific genetic investigation. The most important clinical manifestations have different evolutions: skin lesions increase in dimensions according to body growth; precocious puberty in females evolves rapidly but periods of regression can be seen in some patients; bone dysplasia in most patients evolves with an increase both in the number of affected bones and in the severity of lesions.

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.

The purpose of our prospective study was to evaluate the contribution of follow-up in resected colorectal cancer.One-thousand patients with colorectal adenocarcinoma who underwent radial resection from January 1975 to January 1990 were prospectively divided into two groups: the first group (n = 442, 42%) entered a 5-year follow-up protocol and the second group (n = 558, 56%) was free to make unscheduled visits in case of symptoms.Recurrence was found in 31.5% of the patients in the first group compared with 33% in the second group. Chorioembryonic antigen was the most accurate test detecting recurrence: 77% of the cases (97% for hepatic metastasis). Surgical resection of recurrent tumors was performed in 37% of the group 1 patients (curative resection in 15%) and in 9% (curative resection in 1.5%) of the group 2 patients (p0.001). 5-year survival after recurrence in group 1 was 11.5% versus 1% in group 2 (p0.01).These results emphasize the rational for a follow-up program in patients undergoing surgery for colorectal cancer.

Objectives The aim of the study is to explore possible relationships between occupational exposures and Multiple Sclerosis (MS), whose etiology is not well defined yet. To date, only few literature data are available on this subject. A more detailed study on this topic will be proposed as research theme to the Italian Ministry of Health. Methods We carried out a case-control study, where cases were MS patients included in the MS Register of the Province of Pavia, Northern Italy, and controls, 1:4 matched by sex and age (5 years classes), were randomly selected from the National Health Service population files. The occupational histories were obtained from Italian Institute for Social Security (INPS) archives by automatic linkage using Italian Occupational Cancer Monitoring (OCCAM) method that estimates the risk of specific occupational cancers, by geographic area and industrial sector. OR adjusted for sex and age and corresponding 90% confidence intervals were used to estimate the association between exposure and disease. Results We included in the study 183 MS patients (106 (57,9%) female, 77 (42,1%) male) and 769 controls. Our results suggest an increased risk for men in mechanical manufacturing industry (OR 2.37, 90% CI 1.23–4.58, p = 0.031, 22 cases) and agriculture (OR 4.05, 90% CI 1.20–13.69, p = 0.059, 4 cases). Women show an increased risk in mechanical manufacturing industry (OR 4.31, 90% CI 1.71–10.86, p = 0.009, 8 cases), agriculture (OR 13.18, 90% CI 2.91–59.61, p = 0.005, 3 cases) and leather/shoe industry (OR 7.75, 90% CI 2.49–24.07, p = 0.003, 6 cases). Conclusions Our preliminary findings indicate that solvent exposures could be related to the risk of MS, as both shoe/leather workers and mechanical manufacturing industry workers are exposed to organic solvents. Interestingly, a major risk of MS was also found among workers engaged in agriculture, suggesting a role of pesticides, whose neurotoxic effect is well known.

The records of 143 patients with gallbladder carcinoma operatively treated between 1975 and 1995 were retrospectively reviewed. Abdominal pain was the most common symptom and was present in 103 patients (72%). Jaundice was present in 83 patients (58%) and weight loss in 68 (47.5%). Pre-operative diagnosis was made in 40.5% of the patients. Surgical procedures included cholecystectomy alone (16.8%), cholecystectomy with resection of the hepatic bed and lymphadenectomy (11%), cholecystectomy with biliary drainage (57.3%), and exploration with biopsy (14%). Surgery was considered as curative in 21.5% of the patients. Overall five-year survival rate was 11%. Actuarial 5-year survival rate was 100%, 29% and 23% in patients with T1, T2 and T3 tumors. The five-year survival rate was nil in patients with T4 and T5 cancers.

Heller's procedure is widely used as the most appropriate method for treating achalasia. We performed the procedure laparoscopically in three patients with good results. Two females and one male, age 40, 60 and 68 years, presented with long-term recurrent dysphagia due to achalasia which did not respond to endoscopic dilatation. Heller's procedure was performed laparoscopically in all three with no particular difficulty. In our cases we also attached the anterior border of the greater curvature to the left side of the myotomy and fixed it to the right diaphragmatic pillar to reduce reflux. The procedure would appear to have less risks than laparotomy since visualization of the operative fields is better. Laparoscopy will undoubtedly become the preferred procedure for achalasia.

We reviewed a consecutive series of patients with primary cancer of the gallbladder and looked for specific symptoms, signs, laboratory tests, radiological examinations, operative procedures, operative findings and survival.The records of 143 patients with gallbladder carcinoma operatively treated between 1975 and 1990 were retrospectively reviewed.Abdominal pain was the most common symptom and present in 72% of our patients. Jaundice was present in 83 patients (58%) and weight loss in 68 (47.5%). The pre-operative diagnosis was made in only 28.7 per cent of the cases. Surgical procedures included cholecystectomy alone (24 patients), cholecystectomy and resection of the hepatic bed (17 patients), and exploration with biopsy or bypass (20 patients). Only 21.5% of patients underwent curative surgery. Overall five year survival rate was 11%. For patients whose tumor was limited to the gallbladder wall (T1, T2, T3), the acturial 5-year survival rate was respectively 100%, 29% and 23%. For patients with T4 and T5 tumor, the 5 year survival rate was nil.

Gastroenterostomy procedure is actually the best palliative treatment for malignant duodenal obstruction, unresectable or with hepatic metastases. The authors reported a technique by laparoscopic way. This technique has been performed in 30d patients with good results.