Early-onset absence epilepsy: SLC2A1 gene analysis and treatment evolution.

BACKGROUND AND PURPOSES: To determine the prevalence of SLC2A1 mutations in children with early-onset absence epilepsy (EOAE) and to investigate whether there were differences in demographic and electroclinical data between patients who became seizure-free with anti-epileptic drug (AED) monotherapy (group I) and those who needed add-on treatment of a second AED (group II). METHODS: We reviewed children with EOAE attending different Italian epilepsy centers. All participants had onset of absence seizures within the first 3 years of life but otherwise conformed to a strict definition of childhood absence epilepsy. Mutation analysis of SLC2A1 was performed in each patient. RESULTS: Eighty-four children (57 in group I, 27 in group II) fulfilled the inclusion criteria. No mutation in SLC2A1 was found. There were no statistical differences between the two groups with regard to F/M ratio, age at onset of EOAE, early history of febrile seizures, first-degree family history for genetic generalized epilepsy, duration of AED therapy at 3 years after enrollment, use of AEDs at 3 years, failed withdrawals at 3 years, terminal remission of EOAE at 3 years, and 6-month follow-up EEG data. Mean duration of seizures/active epilepsy was significantly shorter in group I than in group II (P = 0.008). CONCLUSIONS: We demonstrate that in a large series of children with rigorous diagnosis of EOAE, no mutations in SLC2A1 gene are detected. Except for duration of seizures/active epilepsy, no significant differences in demographic and electroclinical aspects are observed between children with EOAE who responded well to AED monotherapy and those who became seizure-free with add-on treatment of a second AED.

Oral supplementation with antioxidant agents containing alpha lipoic acid: effects on postmenopausal bone mass.

PURPOSE OF INVESTIGATION: Oxidative stress impacts many age-related degenerative processes, such as in postmenopausal bone loss and in antioxidant defenses that are significantly decreased in elderly osteoporotic women. The authors evaluated the effect of oral supplementation with antioxidant agents containing alpha lipoic acid (ALA) on bone mineral density (BMD) of osteopenic postmenopausal women. MATERIALS AND METHODS: Fifty postmenopausal women with osteopenia (-2.5 < T-score < -1) were prospectively enrolled and randomly assigned to orally receive ALA and other antioxidant agents (vitamin C, vitamin E, and selenium) plus calcium and vitamin D3 (n = 25), or only calcium and vitamin D3 (n = 25). The BMD was estimated at baseline and after 12 months of treatment by heel quantitative ultrasonometry (QUS). RESULTS: Forty-four patients completed the one-year study: 23 in the ALA group, 21 in the control group. The treatment of ALA group led to a better estimated BMD compared to the control group (0.401 +/- 0.026 vs 0.388 +/- 0.025 g/cm2), although this difference barely achieved a statistical significance (p = 0.048). CONCLUSION: These findings, although in a small population, could suggest that oral supplementation with antioxidant agents containing ALA may mitigate bone loss in osteopenic postmenopausal women.

[Anti-rabies measures by the Infectious Disease Prevention Service at the "La Sapienza" University of Rome in the years 2005-2007]. / Attività Antirabbica del Servizio di Profilassi delle Malattie Infettive della Sapienza Università di Roma nel 2005-2007.

Antirabies service activities of the Infectious Diseases Prophylaxis Centre of the Sapienza University of Rome during the period 2005-2007. Authors analyzed data, of antirabies activity, from 3206 patients treated at the Infectious Diseases Prophylaxis Centre of the University of Rome "La Sapienza" during the period 2005-2007 Dogs were responsible for most bites (92.1%). All patients went first to the Emergency Room where tetanus prophylaxis was administrated only with specific immunoglobulins (51.5%): to such patients we suggested to implement prophylaxis with vaccination. For other patients (19.4%) we prescribed only vaccine tetanus prophylaxis. Antirabies vaccine (PCEC) has been injected in 604 patients (18.8%). Rabies immunoglobulins have been prescribed only to 11 (0.4%) patients that were bitten during travel to Asia or Africa (0.4%). The authors emphasize the opportunity to reduce the administration of anti-tetanus immunoglobulin in Emergency Room by a deeper evaluation of patient's immunity; moreover the authors confirm a clear quantitative reduction of prophylactic interventions against rabies in Italy.

Detecting a rare composite small bowel lymphoma by Magnetic Resonance Imaging coincidentally: A case report with radiological, surgical and histopathological features.

INTRODUCTION: Diagnosing lymphoma continues to prove challenging in the clinical practice. Composite lymphoma (CL) is defined by the coexistence of different lymphoma subtypes in the same anatomical location. This condition has seldom been witnessed in the gastrointestinal (GI) tract. We weren't able to find previous cases in the literature about small bowel CL with follicular lymphoma (FL) and classical Hodgkin lymphoma (CHL). Surgery is the treatment of choice to obtain accurate histology, to manage and prevent acute complications. We state that this work has been reported in line with the SCARE criteria. CASE PRESENTATION: We describe an extremely rare case of small bowel CL, presenting as an intestinal bulky mass with circumferential infiltration of bowel loops. The small bowel tumor was incidentally detected by abdominal Magnetic Resonance Imaging (MRI) in a 64-year-old man who suffered from rectal discomfort and non-specific clinical symptoms. After this radiological finding, the patient underwent multiphase contrast computed tomography (MDCT) for initial staging and to study vascular involvement. Surgery was recommended to obtain an accurate diagnosis both due to initial symptoms of the intestinal obstruction and to avoid small bowel complications. The histopathological examination revealed a small bowel CL composed mainly of B cells FL with also CHL components. CONCLUSION: It is important to note that involvement of the proximal ileal loops is very rare in small bowel lymphoma. MRI represents a precious diagnostic tool to evaluate the intra and extramural extent of the tumor.

Efficacy of an orally administered combination of hyaluronic acid, chondroitin sulfate, curcumin and quercetin for the prevention of recurrent urinary tract infections in postmenopausal women.

OBJECTIVE: To assess whether the orally administered combination of hyaluronic acid (HA), chondroitin sulfate (CS), curcumin and quercetin could be effective in preventing recurrent cystitis in postmenopausal women and whether its efficacy was conditioned by the concurrent use of local estrogen therapy. STUDY DESIGN: This was a prospective evaluation of 145 postmenopausal women consecutively recruited from the database of three different investigators. All women should have mild-to-moderate urogenital atrophy and a history of recurrent urinary tract infections (≥2 episodes within 6 months or ≥3 episodes within 12 months documented by positive urine cultures) during the last year. Patients were assigned to three different therapeutic regimens: the first group was treated only with vaginal estrogens, the second group only with HA, CS, curcumin and quercetin per os, and the third group was treated with HA, CS, curcumin and quercetin associated with local estrogens. We evaluated the number of patients with <2 infective episodes in the 6-month follow-up and <3 episodes in the 12-month follow-up (main aim definition) and the reduction of related symptoms through a Visual Analog Scale (VAS) and the Pelvic Pain and Urgency/Frequency (PUF) patient symptom scale. Student's t-test and chi-squared test were used for data analysis as appropriate. RESULTS: At 6-month follow up, the main aim rate was 8%, 11.1% and 25% in the three groups, respectively (p<0.05 compared to baseline only in group 3). Although the reduction in the number of recurrent episodes became significant in all groups at 1 year follow-up, the main aim rate was almost double in women receiving both local estrogens and oral therapy (group 3) compared to those receiving single treatments. The improvement of related symptoms was significant in all groups at 12-month follow-up. CONCLUSIONS: In postmenopausal women, the combination of HA, CS, curcumin and quercetin per os was effective in preventing recurrent urinary tract infections, especially if administered with vaginal estrogen therapy.

Detection of HIV-1 genome in leukocytes of human colostrum from anti-HIV-1 seropositive mothers.

In order to obtain more information about the presence of HIV-1 in mononuclear cells of colostrum, research was carried out on both the HIV-1 genome in the cellular fraction of colostrum and the viral antibody in cell-free colostrum of eight anti-HIV-1 seropositive asymptomatic mothers. In five cases cell fractions of the colostrum harbored HIV-1 genome by DNA-DNA and DNA-RNA in situ hybridization, whereas viral antibody were detected in all cell-free colostrum specimens. The data confirms the colostrum as a possible route of HIV-1 infection.

Production of a nef-specific monoclonal antibody by the use of a synthetic peptide.

Monoclonal antibodies have been generated against a synthetic peptide of the nef protein of human immunodeficiency virus type 1 (HIV-1) in order to further characterize the biochemical and functional nature of this protein and its role in the control of HIV-1 transcriptional regulation. Earlier studies indicated nef to be a negative regulatory factor for viral transcription, whereas more recent studies report evidence against this original hypothesis. Nef is a protein of 206 amino acids of approximately 27 kD in most HIV-1 isolates; however, in some other isolates a truncated form of 124 amino acids has been described. A peptide sequence of six amino acids, corresponding to a region of the nef protein exhibiting high-sequence homology to thymosin alpha 1 protein, has been synthesized by Merrifield solid-phase methodology. This peptide is coded by a sequence located upstream to the stop codon described in some HIV-1 isolates and then is maintained in both complete and truncated forms of the nef protein. F14.11 is a nef peptide-specific monoclonal antibody (IgG2a/k) exhibiting the ability to recognize natural nef protein in either radioimmunoassay, radioimmunoprecipitation assay, or immunocytochemical analysis. Since F14.11 is able to identify nef protein in the cytoplasm of lymphocytes from HIV-infected seronegative subjects it may prove useful in monitoring the expression of nef during the silent HIV-1 infection.

Costs and benefits of the passive prophylaxis of hepatitis B in an Italian hospital.

The authors report the clinical results and the cost/benefit analysis of a protocol of passive prophylaxis of hepatitis B based on the administration of two doses of three ml each of HBIG and on the control of anti-HBs levels by RIA for six months after accidental exposure in health-care personnel. Only two out of 351 susceptible subjects developed viral hepatitis instead of the expected 70 if passive prophylaxis had not been performed. The cost/benefit analysis showed a saving of 356 509 US$ in the past 36 months. Furthermore, the cost of each case of hepatitis prevented was 2194 US$, whereas the cost of one case of acute, benign hepatitis was 6180 US$. Since a saving of 3.39 US$ for each dollar spent is achieved, this protocol of passive prophylaxis appears more than adequate both clinically and economically. It is believed that the adoption of some general prophylactic measures will further stress the advantages of this procedure.

Fractionation and characterization of hydatid fluid antigens with identification of an antigen similar to human serum albumin.

Human and sheep hydatid fluids were separated by ultrafiltration, gel chromatography and immunoabsorption into several immunogenic fractions in which both parasite antigens and host substances were present. The immunological characterization of proteic antigens was carried out by immunodiffusion and immunoelectrophoresis with rabbit and ram antisera. A line of identity was observed between a human fraction (labelled as III) and a sheep fraction (labelled as 2B). Further evidence of the presence of a parasitic antigen in fraction III was given by its reaction against an antiserum from ram directed against sheep fraction 2B. The immunological characterization of fraction III indicated a close similarity between human serum albumin and parasitic antigens.

HIV viral sequences in seronegative people at risk detected by in situ hybridisation and polymerase chain reaction.

A study was conducted to assess the occurrence of latent infection with the human immunodeficiency virus (HIV) among seronegative people at high risk of infection. The presence of HIV genomes was analysed by molecular techniques in two seronegative children born to mothers infected with HIV and in three regular sexual partners of seropositive drug addicts. The adults were selected from a seronegative cohort at high risk of infection because of their sexual contacts and the children selected because of impaired growth. HIV retroviral sequences were detected in four of the five subjects directly at the cellular level by in situ hybridisation in peripheral blood mononuclear cells. HIV genomic sequences were confirmed by in vitro amplification of viral DNA with the polymerase chain reaction technique. The existence of a latent viral infection state in these seronegative subjects indicates the unreliability of standard serological analysis in people who have been in regular contact with infected patients.

Detection and clinical evaluation of GBV-C/HGV in plasma from patients with chronic hepatitis of unknown etiology.

PURPOSE: The role of GBV-C/HGV virus infection in patients with chronic hepatitis of unknown etiology has been studied. Two groups of patients have been included: a) 50 consecutive patients with chronic hepatitis (mean age 47 yrs; M/F = 35/15), negative for markers of hepatitis viruses (HBV-HCV). These patients did not show evidence of metabolic, autoimmune, alcoholic or toxic liver disease; b) 50 healthy blood donors (mean age 35 yrs; M/F = 35/15). All the subjects were HIV-seronegative. PATIENTS AND METHODS: The detection of GBV-C/HGV RNA was performed by reverse transcription-polymerase chain reaction techniques and capillary zone electrophoresis analysis (CZE). RESULTS: There was no difference between the two groups of patients (14% vs 6%; p = 0.18 NS). CONCLUSIONS: The etiopathogenetic role of GBV-C/HGV in chronic hepatitis of unknown etiology is yet to be shown.

Leptospirosis survey in wild rodents living in urban areas of Rome.

The aim of the study was to survey the current extension of the infected brown rats (Rattus norvegicus) living on the site Ripa Grande-San Michele port located in the center of the sity along the accessible right bank of the Tiber river by using a specific molecular technology. The detection of Leptospira, in 11 trapped brown rats, by tube-based Polymerase Chain Reaction (PCR) was performed. The amplified samples were analysed by capillary zone electrophoresis (CZE). Sequence analysis of the amplified DNAs confirmed the specificity of the detection of leptospires. Five out of 11 brown rats exhibited positivity for Leptospira. The survey points out the high rate of leptospiral infection in the brown rats living in the most ancient urban area of Rome.

Effects of Cimicifuga racemosa extract on liver morphology and hepatic function indices.

UNLABELLED: Cimicifuga racemosa (black cohosh) is a herbaceous perennial plant, that has been traditionally used for a variety of ailments (dyspepsia, climacteric complaints, muscular rheumatisms, menstrual cramps). From laboratory and clinical studies, black cohosh seems to have a relatively good safety profile, even if a number of case reports of hepatotoxicity were a matter of recent concern. AIM: A number of case reports indicated that C. racemosa could induce hepatotoxicity. We evaluated the effects of black cohosh extract on liver morphology, and on levels of various hepatic function indices in rats. METHODS: Wistar rats received 300mg/kg/day of C. racemosa extract by gavage, for 30 days. Biochemical analysis of serum was conducted by an automated, random-access clinical chemistry analyzer. Liver samples were used for hystomorphological and immunohistochemical examination, for the detection of apoptosis (TUNEL assay), and for the determination of GSH level (spectrophotometrical analysis). RESULTS: C. racemosa extract does not affect liver morphology and hepatic function indices, in rats. CONCLUSIONS: On the basis of experimental data, the use of 300mg/kg/day of black cohosh appears quite safe in rats. Nevertheless, in humans the safety of C. racemosa should be further monitored, in terms of patient-related factors.

An open-label trial of levetiracetam in severe myoclonic epilepsy of infancy.

OBJECTIVE: To conduct an open-label, add-on trial on safety and efficacy of levetiracetam in severe myoclonic epilepsy of infancy (SMEI). PATIENTS AND METHODS: SMEI patients were recruited from different centers according to the following criteria: age > or =3 years; at least four tonic-clonic seizures/month during the last 8 weeks; previous use of at least two drugs. Levetiracetam was orally administrated at starting dose of approximately 10 mg/kg/day up to 50 to 60 mg/kg/day in two doses. Treatment period included a 5- to 6-week up-titration phase and a 12-week evaluation phase. Efficacy variables were responder rate by seizure type and reduction of the mean number per week of each seizure type. Analysis was performed using Fisher exact and Wilcoxon tests. RESULTS: Twenty-eight patients (mean age: 9.4 +/- 5.6 years) entered the study. Sixteen (57.1%) showed SCN1A mutations. Mean number of concomitant drugs was 2.5. Mean levetiracetam dose achieved was 2,016 mg/day. Twenty-three (82.1%) completed the trial. Responders were 64.2% for tonic-clonic, 60% for myoclonic, 60% for focal, and 44.4% for absence seizures. Number per week of tonic-clonic (median: 3 vs 1; p = 0.0001), myoclonic (median: 21 vs 3; p = 0.002), and focal seizures (median: 7.5 vs 3; p = 0.031) was significantly decreased compared to baseline. Levetiracetam effect was not related to age at onset and duration of epilepsy, genetic status, and concomitant therapy. Levetiracetam was well tolerated by subjects who completed the study. To date, follow-up ranges 6 to 36 months (mean, 16.2 +/- 13.4). CONCLUSION: Levetiracetam add-on is effective and well tolerated in severe myoclonic epilepsy of infancy. Placebo-controlled studies should confirm these findings.

Association of pelvic endometriosis with alopecia universalis, autoimmune thyroiditis and multiple sclerosis.

An adult Caucasian female developed a previously unreported association of pelvic endometriosis (PE) with the triad of alopecia universalis (AU), autoimmune thyroiditis (AT) and multiple sclerosis (MS). Molecular human leukocyte antigen (HLA)-tissue typing of this subject showed the presence of the DR(2) 15 and DR(3) 17 alleles, which are associated to an increased risk of MS and AT, respectively. Clinical onset of AT followed withdrawal of corticosteroid treatment for AU, whereas MS become clinically evident after withdrawal from long-term estroprogestin therapy for PE. This clinical case is presented to discuss the autoimmune origin of PE, its possible association with multiple autoimmune disorders as well as the effect of other factors, such as administration and/ or discontinuation of specific hormonal regimens, on genetic autoimmunity-prone background.

Use of sulphonated probes for detecting human immunodeficiency virus-1 transcripts by in situ hybridization.

A detailed procedure is described that allows detection of the presence of human immunodeficiency virus-1 (HIV-1) transcripts within both acetone-fixed tissues and peripheral blood mononuclear cells. This assay uses cDNA probes labelled by a non-isotopic procedure that results in the modification of cytosine residues through covalent linkage to a sulphone group. In situ hybridized probe is then detected by an alkaline phosphatase-conjugated antibody specifically directed against the sulphone hapten. This procedure is specific, rapid and safe and can be applied in the research as well as in the clinical pathology settings.

Non-A, non-B hepatitis: positive and negative considerations on 138 cases.

In 138 patients with NANB H no correlations were observed regarding types of exposure (PTH: 19.5%, DA: 18.1%, Sporadic cases: 62.4%), age groups and periods of incubation. Precipitin lines were detected assaying by ID and/or CEP onset and recovery sera with heterologous reference sera positive for Ab or Ag, respectively, or with autologous sera; "Ag"' was present during acute phase of illness, "Ab" appeared with decrease of aminotransferases, and in most cases seroconversion was observed in accord with clinical course. In few patients double precipitin lines were evidenced (heterogeneity of Ag?), while one patient reacted with all reference sera and many others with two/three sera (two NANB viruses or two Ag/Ab systems?). Tendency towards chronicity emerged in four cases, and in these Ag/Ab systems had a different behaviour.