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Background: Clinical and molecular factors are essential to define the prognosis in patients with glioblastoma (GBM). O6-methylguanine-DNA methyltransferase (MGMT) methylation status, age, Karnofsky Performance Status (KPS), and extent of surgical resection are the most relevant prognostic factors. Our investigation of the role of gender in predicting prognosis shows a slight survival advantage for female patients. Methods: We performed a prospective evaluation of the Project of Emilia Romagna on Neuro-Oncology (PERNO) registry to identify prognostic factors in patients with GBM who received standard treatment. Results: A total of 169 patients (99 males [58.6%] and 70 females [41.4%]) were evaluated prospectively. MGMT methylation was evaluable in 140 patients. Among the male patients, 36 were MGMT methylated (25.7%) and 47 were unmethylated (33.6%); among the female patients, 32 were methylated (22.9%) and 25 were unmethylated (17.9%). Survival was longer in the methylated females compared with the methylated males (P = 0.028) but was not significantly different between the unmethylated females and the unmethylated males (P = 0.395). In multivariate analysis, gender and MGMT methylation status considered together (methylated females vs. methylated males; hazard ratio [HR], 0.459; 95% confidence interval [CI], 0.242-0.827; P = 0.017), age (HR, 1.025; 95% CI, 1.002-1.049; P = 0.032), and KPS (HR, 0.965; 95% CI, 0.948-0.982; P < 0.001) were significantly correlated with survival. Conclusions: Survival was consistently longer among MGMT methylated females compared with males. Gender can be considered as a further prognostic factor.

Background: The relevance of human leukocyte antigen (HLA)-G in dimeric form in multiple sclerosis (MS) is still unknown. Objective: To investigate the contribution of cerebrospinal fluid (CSF) HLA-G dimers in MS pathogenesis. Methods: CSF amounts of 78-kDa HLA-G dimers were measured by western blot analysis in 80 MS relapsing–remitting MS (RRMS) patients and in 81 inflammatory and 70 non-inflammatory controls. Results: CSF amounts of 78kDa HLA-G dimers were more frequent in RRMS than in inflammatory ( pConclusion: Our findings suggest that HLA-G dimers may be implicated in termination of inflammatory response occurring in MS.

The protean manifestations of a novel maternally inherited point mutation of the mitochondrial genome are reported. The proband showed isolated, spastic paraparesis. A brother, who had suffered from a multisystem progressive disorder, ultimately died of cardiomyopathy. Another brother is healthy. The proband's mother showed truncal ataxia, dysarthria, severe hearing loss, mental regression, ptosis, ophthalmoparesis, distal cyclones, and diabetes mellitus. A muscle biopsy performed in the proband failed to show the morphological abnormalities typical of mitochondrial disorders; the activities of respiratory chain complexes were normal. However, complex I and IV activities were low in the muscle homogenate of the affected mother and brother. Sequence analysis of mtDNA showed a heteroplasmic mutation of the tRNA(Ile) gene (G4284A). The mutation load was approximately 55%, 80%, and 90% in the muscle mtDNA of the proband, his mother, and his affected brother, respectively. Mutation was undetected in the healthy brother, as well as in 100 control samples. Several cybrid clones containing homoplasmic mutant mtDNA from the proband showed significant reductions of complex IV activity and maximum oxygen consumption rate, compared with homoplasmic wild-type clones derived from the same subject.

We determined whole blood lead and cadmium levels, and serum selenium levels in patients with sporadic amyotrophic lateral sclerosis and age- and sex-matched controls. Disability due to the disease directly correlated with lead levels, and there was a strong inverse correlation with selenium concentrations. Lead and selenium concentrations tended to be similar in the cases and controls, both in the study population as a whole and after the removal from the analysis of the patients with the highest degree of disability. In the patients with limited disability, cadmium concentrations were higher than in the controls. Our findings lend limited support to a possible involvement of cadmium, but not lead, in the etiology of sporadic amyotrophic lateral sclerosis, and strongly suggest that short-term indicators of exposure are inadequate to investigate the relationship between selenium and the disease.

Peroneal muscular atrophy (PMA) associated with hereditary spastic paraparesis (HSP) is a nosologically ill-defined disease, which has been classified by Dyck as hereditary motor and sensory neuropathy type V (HMSN V). Nerve biopsy has been rarely reported in this condition. We examined sural nerve biopsies in four patients, demonstrating the following: severe myelinated fiber loss especially of large fibers, with moderate (one case) or prominent (one case) onion bulb formation; selective decrease of large fibers with moderate Schwann cell hyperplasia (one case); normal myelinated fiber population with minimal changes (one case). After reviewing previously reported cases we, conclude that in PMA with HSP sural nerve biopsy may show features either of hypertrophic type of PMA, of neuronal type, or of spinal type; thus, it seems inappropriate to allocate PMA with HSP in a unique subtype of HMSN. In addition, HSP may be not associated with peripheral neuropathy, and thus the classification in the HMSN group may be incongruous. A proper classification of PMA with HSP may be in the "complicated" forms of HSP according to Harding [Lancet I: 1151-1155 (1983)]; however, the nosology of this condition needs to be further elucidated, possibly on the basis of the underlying molecular genetic mechanisms of HSP and PMA.

The cardiovascular disease is largely increased in chronic renal failure and the patients have a 10-20 times higher mortality respect normal population. Besides habitual risk-factors they add the mineral metabolism alterations, iperomocisteine and chronical vessel flogosis. In these patients the vascular disease is often lately diagnosed, but early diagnosis would be extremely important to establish appropriate pharmacologic or surgical treatment (PTA or by pass). The basic diagnostic methods are still digital angiography, angio-NMR or angio-CT. In our experience appears that dialysed patients present high total mortality and re-vascolarization (particularly for peripheral occlusive disease) gives less guarantee of success. During last years endovascular surgery procedures extremely improved short-term prognosis for these patients. When there is no space for the re-vascolarization and the situation is strongly compromised by the presence of extended gangrene or infected lesion, amputation is still indicated and can be considered the only possible solution.

Background We sought to determine whether migraine headache with aura (MHA) and spontaneous large right-to-left (R–L) shunt are risk factors for recurrent cerebral ischemic events in cryptogenic stroke patients with a patent foramen ovale (PFO). Methods 140 patients with a PFO and cryptogenic stroke underwent transcatheter defect closure at our institution at a mean age of 45±13 years. We retrospectively analyzed follow-up data from the first cerebral ischemic event to the time of PFO closure. Before the procedure, all patients underwent transesophageal echocardiography (TEE); Transcranial Doppler scanning (TCD) was additionally performed on the last 59 patients. We analyzed the impact of MHA, thrombophilia, spontaneous large R–L shunt, and atrial septal aneurysm (ASA) on the risk of recurrent cerebral ischemic events. Results 44 patients (31%) had had at least 1 recurrent event during a follow-up of 2.2±2.6 years. Patients with recurrent events were more commonly females ( p =0.0001), had more often an associated thrombophilia ( p =0.0077), and had a higher prevalence of spontaneously large R–L shunt both at TEE and at TCD ( p p =0.0009) and more frequent episodes of MHA ( p =0.0048). Patients with MHA had a higher risk of recurrent events when compared to patients without (odds ratio 3.87, 95% CI 1.75 to 8.50). Thrombophilia ( p =0.001) and spontaneous large R–L shunt ( p =0.02) were independent predictors of recurrent stroke. Conclusions In cryptogenic stroke patients with a PFO, a history of MHA, large spontaneous large R–L shunt, and thrombophilia are all associated with a higher risk of recurrent events.

Background: Patent foramen ovale (PFO) has been implicated in the etiology of migraine headache with aura (MHA), but the mechanisms that link right-to-left (R-to-L) shunt to MHA are unclear, and the reports on the efficacy of transcatheter PFO closure on MHA prevention are scarce. Methods: We reviewed the clinical records of 131 consecutive patients who underwent successful transcatheter PFO closure at our institution at a mean age of 45 ± 13 years because of cryptogenic stroke. Of the 131 patients, 35 (27%) had a diagnosis of MHA made by the primary care physician or the referring neurologist. Migraine headache with aura incidence and severity were assessed by using Migraine Disability Assessment (MIDAS) questionnaire. Presence and magnitude of R-to-L shunt were assessed in all patients by means of transesophageal echocardiography and also by means of transcranial Doppler (TCD) in the last 50 patients (38%). Results: Patients with MHA had a higher prevalence of thrombophilia (P = .007), a more complex atrial septal anatomy (P = .001), and they also had higher prevalence of spontaneous R-to-L shunt and of spontaneous large shunt, both at transesophageal echocardiography (P = .015, and .028, respectively) and at TCD (P = .036, and .038, respectively). After the procedure, 32 (91%) of 35 patients had either complete resolution or significant improvement in their MHA. At a mean follow-up of 1.7 ± 1.3 years, MHA disappeared completely in 29 (83%) of 35 patients. Of the remaining 6 patients, 3 patients (8%) had an improvement of ≥2 grades in the incidence and severity of MHA, 2 patients did not show any improvement of their MHA, whereas 1 patient reported a severe relapse of MHA about 1 year after the procedure. Conclusions: In patients with PFO, MHA is associated with spontaneous large R-to-L shunt and thrombophilic conditions. Transcatheter defect closure seems to be an effective and safe means to treat MHA in patients with PFO. © 2006, Mosby, Inc. All rights reserved.

Critical limb ischemia secondary to chronic peripheral occlusive disease is common in chronically dialysed patients, with an incidence rate of 25-30%. Atherosclerotic lesions are more frequent in the infrainguinal arteries and long infrapopliteal occlusions often occur. Due to diabetes, hypertension and ischemic cardiopathy, the surgical prognosis is very poor in these patients; medical treatment should always be attempted associated with analgesia, without an excessive delay in surgical therapy if needed. Both spinal stimulation and lumbar simpaticectomy often fail; open and endovascular surgery are the best options before major amputation, which has a high incidence in this patient subgroup. Between 2000 and 2003, 23 chronically dialysed patients underwent surgery. Nine open and 13 endovascular procedures were performed, associated with four immediate and five late minor amputations. Despite an immediate mortality rate of 8.6%, we obtained immediate patency and limb salvage in all cases. In a medium follow-up of 25 months (range 3-36), five thromboses were found in subinguinal procedures; not one in iliac procedures. The five patients underwent major amputation. Another two patients underwent amputation despite arterious patency. Seven patients died due to cardiovascular diseases during the follow-up. Our experience confirms that the association between POAD and dialysis is a prediction factor for medium-term death and that the surgical risk is highly increased. It is important to select patients undergoing surgical treatment to check for the lowest invasivity.

We investigated the efficacy of transcatheter patent foramen ovale (PFO) closure to prevent recurrent cerebral ischemic events in patients who did and those who did not have thrombophilia. Patients who have a PFO and an associated thrombophilia may have an increased risk of cerebral ischemic events. Seventy-two consecutive patients (mean age 42 +/- 13 years) underwent percutaneous PFO closure because of a cerebral stroke (51%) or a transient ischemic attack (49%). A thrombophilia was found in 20 patients (28%). A large right-to-left shunt through the PFO was found in 44 patients (61%) and an atrial septal aneurysm was found in 39 (54%). After the first event, 18 of 20 patients (90%) with a thrombophilia received oral anticoagulation. Before closure, patients who had a thrombophilia also had a higher rate of recurrences than patients who did not (p0.0001), despite a similar follow-up (p = 0.14) and regardless of shunt entity (p = 0.59), presence of an atrial septal aneurysm (p = 0.98), and a prevalence of cardiovascular risk factors (p = 0.44). PFO closure was successful in all patients. Five patients (8%) had a residual shunt at 6 months. At 20 +/- 11 months after PFO closure, 3 recurrent events occurred (4%), and the recurrence rate was similar in patients who did and those who did not have a thrombophilia (p = 0.25). Thus, in patients who have a cryptogenic stroke, the association of a PFO with a thrombophilia significantly increases the risk of recurrences. Thus, transcatheter PFO closure is effective for preventing recurrences in patients who have a thrombophilia.

Commencing with the work carried out during the epidemiological survey of amyotrophic lateral sclerosis in the period 1980-1992 and the pathology follow-up, we carried out a perspective incidence, prevalence and mortality survey of X-linked bulbar and spinal muscular atrophy (X-BSMA) in the province of Reggio Emilia in Northern Italy. Based on 11 patients (eight familial and three sporadic cases), the mean incidence per year for the period 1980 through 1997, as evaluated at the onset of symptoms, was 0.09 cases/100,000 for the total population and 0.19 cases/100,000 for the male population. On December 31, 1997, the prevalence rate was 1.6/100,000 for the total population and 3.3/100,000 for the male population. In the 18-year period of 1980-1997, the average yearly mortality rate was: 0.03 cases/100,000 per year for the total population and 0.06 cases/ 100,000 for the male population. The average age at onset was 44.8 +/- 10.1, and the average survival period was 27.3 +/- 2.3 years. The average age of the prevalence day was 58.9 +/- 14.9, and the average age at death was 71.3 +/- 4.7 years. Whereas the incidence rate of X-BSMA in the province of Reggio Emilia is 16 times lower that of amyotrophic lateral sclerosis (ALS), the incidence rate of progressive bulbar palsy in the male population is only slightly higher than X-BSMA; and the prevalence rate of ALS for males is two times the prevalence rate for X-BSMA, with overlapping of confidence intervals. X-BSMA is a rare disease, which is probably under-diagnosed, but due to the long survival period of this disease its frequency is not negligible. Because of the presence of sporadic cases or non-evident familial cases, it is appropriate to consider this diagnostic possibility in making a diagnosis of ALS in patients in whom lower motor neuron dysfunction or bulbar onset predominates.

We carried out a retrospective incidence, prevalence and mortality survey of myasthenia gravis in the province of Reggio Emilia in Northern Italy. Based on 49 patients, the mean incidence per year for the period 1980 through 1994 was 7.8 per 1,000,000. On 31 December 1994 the prevalence rate was 117.5 per 1,000,000 for all patients, either active or recovered (50 cases in a population of 427,493) and 103.4 per 1,000,000 for the active disease. In the 15-year period 1980-1994 the average mortality rate was 1.0 per 1,000,000 per year. The average age at onset was 44.6 +/- 21.0, and the average age at the time of prevalence determination was 51.1 +/- 19.6 for the active disease. At the time of diagnosis, 21 patients (36.8%) were classed in group I according to Osserman's criteria, 31 in group II (54.4%), (19 in group II-A and 12 in group II-B), and the other 5 (8.8%) in group III. Of all the prevalence cases, 6 (12%) were in remission without therapy and 6 with therapy, while most of the others 16 (32%) were classed in group I, 15 (30%) in group II, and 1 (2%) in group III. Thymectomy was performed in 20 patients (35.1%), 12 (21%) had thymoma (malignant in 4 cases), 6 had thymic hyperplasia while in two patients thymic histology was normal. The relation the grade of Osserman's scale at the time of incidence and the presence of thymoma were significant. Higher grades of Osserman's scale were associated were malignant thymoma. Furthermore the relationship between thymectomy and the grade of Osserman's scale at the date of prevalence was significant for the presence of lower grades of Osserman's scale in the patients submitted to thymectomy.

We examined 9 years' incidence of amyotrophic lateral sclerosis, a disease previously associated with a high-selenium environment, in a cohort of 5,182 residents of Reggio Emilia, Italy. This cohort had accidentally been exposed to drinking water with high selenium content. Four cases were diagnosed during the follow-up. Using the remainder of the municipal population as the reference group, the standardized incidence ratio was 4.22 (95% confidence interval = 1.15-10.80). The standardized incidence ratio was higher after limiting the analysis to the subcohort with the longest ascertainable exposure period. The findings appear to confirm a causal association between overexposure to environmental selenium and amyotrophic lateral sclerosis.

We report the clinical, neurophysiological, neuropsychological, neuropathological and molecular findings in a large family with X-linked bulbar and spinal muscular atrophy (X-BSMA). Molecular study, performed in 28 family members, showed an increase in the number of CAG repeats in 6 affected males (including 2 presymptomatic patients), and in 10 females, of whom 5 were obligate carriers. All symptomatic patients showed, besides the typical manifestation of X-BSMA, neurophysiological signs of sensory nerve involvement, and abnormal findings in neuropsychological tests. Sural nerve biopsy, performed in two patients, was consistent with axonal atrophy and slow-rate degeneration, with secondary demyelination. Neurophysiological alterations were also present in 6 out of 8 carriers, consisting of neurogenic EMG changes in 3 cases and abnormal sensory action potentials (SAP) and reduced conduction velocity of the sural nerve in 3 cases. Abnormalities of at last two neuropsychological tests were found in 6 out of 8 carriers. Alterations of the sensory nerves in X-BSMA patients have been previously reported in some cases; however, we demonstrate for the first time sensory nerve involvement also in carriers. Evidence of central nervous system involvement, with neuropsychological impairment in all symptomatic patients and in some carriers, is another feature of this family, not previously reported in X-BSMA. In spite of the variable phenotypic features, the number of CAG repeats ranged from 40 to 44 in the affected patients, indicating that phenotypic expression was not related to the size of the mutation, but was probably age-related.

We carried out a retrospective incidence, prevalence and mortality survey of amyotrophic lateral sclerosis (ALS) in the province of Reggio Emilia, northern Italy. Based on 79 patients, the mean incidence per year for the period 1980 through 1992 was 1.5 cases per 100,000. On December 31st, 1992, the prevalence rate was 5.4 per 100,000. In the 10-year period of 1983-1992 the average mortality rate was 1.3 per 100,000 per year. The average age at onset was 61.3 +/- 10.2, the average survival period thereafter was 26.3 months +/- 17.7; 27.3 +/- 17.6 for classic ALS, 19.5 +/- 8.4 for progressive bulbar palsy and 36.3 +/- 41.4 for pseudopolyneuritic ALS. The incidence rate, recorded in public health district No.12, an area with documented lead pollution since the 1970s, was standardized to the sex and age of the population of the province. Its incidence and prevalence rate were comparable to the rates found in the remaining area of the province.

An increase in the number of (CAG)n repeats in the first coding exon of the androgen receptor (AR) gene has been strongly associated with Kennedy disease (KD) (spinal and bulbar muscular atrophy). This is an X-linked hereditary disorder characterized by motoneuron degeneration occurring in adults together with gynecomastia and hyperestrogenemia. We have performed AR gene molecular analysis in several members of a large family with KD as well as in 25 sporadic patients suffering from heterogeneous motoneuron disease (MND). An increase in the length of the (CAG)n repeats was detected, as expected, in all the affected males and in obligatory carrier females, some of which had minor signs of lower motoneuron involvement. There was only one possible exception, one young male with initial signs of the disease, who had an apparent normal length allele. An increased pathological allele was also found in 3 patients with MND. This indicates that the analysis of (CAG)n repeats of the AR gene plays a role in the differential diagnosis of this heterogeneous group of neurological diseases.

We present the results of an epidemiological survey on MS conducted in the provinces of Reggio Emilia and Modena (4,980 km2) from 1970 to 1990. The population increased from 943,182 residents in 1970 to 1,024,223 in 1990, with an average population during the period of the survey of 993,056. The mean annual incidence was 1.59 cases/100,000 inhabitants (c.i. 95% 1.42-1.78). The prevalence as of December 31, 1990, was 39.44/100,000 inhabitants. Our study is a further demonstration that Italy is a high-risk zone for this disease, and also demonstrates the possibility of carrying out reliable epidemiological surveys even over extensive territories.

Before 1975 the multiple sclerosis (MS) prevalence rate in Italy ranged from 4 to 21 cases per 100,000 inhabitants. In more recent studies the MS prevalence rate exceeded 30 cases per 100,000. We decided to perform an epidemiological survey in the province of Modena, Northern Italy, in order to clarify whether Italy should be considered as an area at high risk for MS like the countries of continental Europe. The mean annual incidence for the disease for the period 1970-1990 was 1.49 per 100,000, and the prevalence rate was 38.91 per 100,000 on December 31, 1990. These results indicate Modena is a high risk MS area.

Lyme borreliosis is a systemic disease. The etiologic agent is a tick-bite borne spirochete (Borrelia burgdorferi) of which men are casual hosts. Although the illness is reported worldwide, it is more frequent in the northern parts of Countries. Some isolated clinical pictures are reported in the past, but only in 1975 the illness was well described at Old Lyme (Connecticut, Usa) and then well defined in its pathogenesis and clinical course in three stages. Lyme disease, involving skin, heart, nervous system and joints, is frequently protean and misdiagnosed, so that it was called "the new great imitator". In Italy the first case is reported in 1985. The authors report three (3) new cases, mostly with neuro-articular signs and symptoms. Literature is partially reviewed, for a better definition and outline of some epidemiological, etiopathogenetic, historical and clinico-therapeutic aspects of Lyme disease.

A retrospective epidemiological study on the first episode of stroke in young adults aged 15-44 years was carried out in the territory of the Local Health Unit No. 9 in Reggio Emilia (46,491 km2), Italy, from 1987 to 1989. 29 patients were identified: 17 were affected with cerebral infarction and 12 with hemorrhage. All young patients were discharged with diagnostic codes 430-438 according to the International Classification of Disease, i.e. the criteria of the World Health Organisation for stroke definition. All patients had computed tomography or necropsy. The average annual incidence rate per 100,000 population aged 15-44 for all strokes was 13.6 and the 95% confidence interval (CI 95%) was 9.1-19.6. The general population of the same age on January 1, 1987, was 69,845 and 71,920 on December 31, 1989; the incidence rate of stroke was 14.0 for males (CI 95% 7.9-2.3) and 13.2 (CI 95% 7.1-22.2) for females. The average annual incidence rates were 8.0 (CI 95% 4.7-12.2) for cerebral infarction (8.4, CI 95% 3.9-16 for males, 7.6, CI 95% 3.3-14.9 for females), 5.6 (CI 95% 2.9-9.9) for cerebral hemorrhage and 2.8 (CI 95% 1.0-6.1) for both subarachnoid (SAH) and intracerebral hemorrhage (ICH). Based on angiography or necropsy findings, aneurysms or arteriovenous malformations were present in 83% of the patients with SAH and in 66% of the patients with ICH. The 1-month fatality ratio was 0 for cerebral infarction, 50% for SAH and 33% for ICH.(ABSTRACT TRUNCATED AT 250 WORDS)

Two cases of acute caecal diverticulitis are reported. The Authors describe the clinical aspects, diagnostic procedures, histological pictures and surgical treatment. Particular emphasis is also placed on problem of a correct preoperative diagnosis.

The paper reports the Authors' ten year experience on simple ligation in appendicectomy. After having reviewed the various surgical procedures, the Authors report their clinical experience and, considering the good postoperative results with this method, regard this procedure as an alternative to the technique of ligation with inversion of the stump in appendicectomy.

Three patients with hypereosinophilia showed different forms of peripheral neuropathy: severe polyneuropathy of prevalently sensory type (case 1), mild sensory neuropathy (case 2), acute mononeuropathy of the median nerve with subclinical polyneuropathy (case 3). Hypereosinophilia was probably idiopathic, however the presence of atypical findings suggested transition to vasculitides or collagen disease. Sural nerve biopsy in cases 1 and 2 showed features of axonopathy in both, although of different severity, reflecting the variability of clinical involvement and, probably, heterogeneous pathogenic mechanisms. Peripheral nerve involvement associated with hypereosinophilia may be related to neurotoxicity of eosinophils, or to vascular damage.

We report 31 cases of herpes zoster (HZ) with neurological complications: 14 with cranial nerve deficits, 1 with cranial nerve deficit associated with segmental motor disorder, 3 with segmental motor deficits, 2 with meningoencephalitis, 2 with meningoencephalitis associated with cranial neuropathy or myelitis, 2 with meningitis, 2 with hemiplegia contralateral to the ophthalmic HZ. 1 with hemiplegia and motor deficit and finally 1 with hemiplegia and a cranial neuropathy. Smoking was the putative risk factor in 53% of our patients together with diabetes, which has already been mentioned in the literature. We frequently observed more than one complication in succession (19.3%) that could not easily be related to the cutaneous distribution. Acyclovir had no demonstrable positive effects on neurological complication in our patients.

An X-linked adult-onset neurogenic muscular atrophy, chiefly proximal, with late involvement of the distal musculature and medulla oblongata was present in 4 members of a single kindred. Associated in all patients were gynecomastia, impotence and essential tremor. Frederickson type IV hyperlipemia was present in 1 patient. Hormonal stimulation tests in 2 patients elicited a borderline low testicular response in the younger of the 2 and a pathological response in the older patient. On the evidence of these and previously reported cases, Kennedy disease would appear to be characterized by an X-linked proximal neurogenic amyotrophy of adult onset and by a testicular endocrine deficit.

The authors report on a case of solitary ulcer of the large bowel associated with mucosal melanosis, stressing the peculiar nature of this rare pathology and its differentiation from solitary ulcer of the rectum. The pathogenesis of the disease is still unknown and histological data from biopsies performed at various time intervals in chronic cases show, in this case as in other cases of solitary ulcer of the rectum, that histological findings vary over time; in the case reported on here, histology revealed a transition from a chronic inflammatory situation to one of mucosal melanosis after three months. Diagnosis is reached by exclusion and is based on colonoscopy plus biopsy. Useful techniques in complicated cases are selective angiography (for haemorrhage) or CAT (for perforations, abscesses). Treatment is conservative in uncomplicated cases, with suitable follow-up in the form of check colonoscopies and targeted biopsies. Surgical treatment is confined to those cases--by no means infrequent--complicated by haemorrhage, perforation and abscesses.

We analyzed the association between the environmental exposure to trace elements and the risk of sporadic amyotrophic lateral sclerosis (ALS) in a population-based case-control study in the Emilia-Romagna region in northern Italy. We evaluated exposure to selected trace elements by measuring toenail concentrations of the same by means of inductively coupled plasma optical spectrometry and instrumental neutron activation analysis. The final number enrolled in the study was 22 patients and 40 controls. Disease progression, assessed through a clinical score, was generally unassociated with toenail trace element levels, with the exception of an inverse relation with zinc and selenium content and a direct correlation with copper concentration. In logistic regression analysis, we found no evidence of an association between ALS risk and toenail content of cadmium, lead, copper, zinc, manganese, selenium, chromium, cobalt, iron, and aluminum. This investigation does not suggest a major role in sporadic ALS etiology of environmental exposure to these trace elements, though results for zinc, selenium, and copper should be evaluated with caution due to the potential limitations of toenails as biomarkers of chronic exposure in patients.

We investigated through a population-based case-control study the hypothesis that disturbances in the chemistry of copper and zinc and in activity of the antioxidant enzyme copper/zinc superoxide-dismutase (SOD1) are involved in the etiopathogenesis of sporadic amyotrophic lateral sclerosis (ALS). We recruited 20 patients with sporadic ALS and 22 population controls from three northern Italian provinces, and we analyzed zinc and copper content and SOD1 activity in erythrocytes. These variables were unrelated to disease progression as evaluated through a disability score; zinc concentrations inversely correlated with copper in referents but not in patients. SOD1 activity was lower and erythrocyte zinc and copper levels were slightly higher in patients than in referents. Comparing the second to the bottom tertile of erythrocyte SOD1 activity, relative risk of ALS was 0.4 (95% confidence interval 0.1-2.0); the risk further decreased to 0.1 (95% confidence interval 0-0.9) for comparison of highest to lowest tertile (P for trend 0.027). Copper and zinc levels were not associated with disease risk. Our findings indicate that a lower SOD1 activity is associated with ALS, but we cannot be sure whether this association is a marker of causal action or is secondary to a confounder, or to disease onset itself.