Responsiveness of patient reported outcome measures in multiple sclerosis relapses: the REMS study.

Objectives: To assess the responsiveness of the three most used patient reported multiple sclerosis (MS) specific questionnaires: the Functional Assessment of MS (FAMS), the MS Impact Scale (MSIS-29) and the 54 item MS Quality of Life (MSQOL-54).

Design: Prospective multicentre longitudinal study on 104 MS patients treated with intravenous steroids for clinical exacerbation.

Methods: Patient reported data, Expanded Disability Status Scale (EDSS) score and clinical information were collected at admission and 8 weeks later.

Focal spermatogenesis originates in euploid germ cells in classical Klinefelter patients.

Background: Klinefelter syndrome is the most frequent chromosome abnormality in human males. This paper aims to investigate the ploidy of meiotic and pre-meiotic germ cells found in spermatogenic foci, and furthermore, the sex chromosome constitution of Sertoli cells which surround these germ cells in non-mosaic Klinefelter patients.

Methods And Results: A survey of 11 adult patients diagnosed with classical, non-mosaic Klinefelter syndrome who underwent testicular biopsies, showed that six of them had spermatogenesis foci.

Predominance of Trypanosoma cruzi genotypes in two reservoirs infected by sylvatic Triatoma infestans of an endemic area of Chile.

We report results of Trypanosoma cruzi infection and parasite genotypes in the wild Octodon degus and synantropic reservoir Rattus rattus from an endemic area with sylvatic Triatoma infestans as the only detected vector. The infection status was determined by hemi-nested PCR directed to minicircles DNA and genotyping by hybridization tests with a panel of five specific probes, including two probes for TcI subgroups (clones 19 and 20). O.

A Mutant-p53/Smad complex opposes p63 to empower TGFbeta-induced metastasis.

TGFbeta ligands act as tumor suppressors in early stage tumors but are paradoxically diverted into potent prometastatic factors in advanced cancers. The molecular nature of this switch remains enigmatic. Here, we show that TGFbeta-dependent cell migration, invasion and metastasis are empowered by mutant-p53 and opposed by p63.

Differential distribution of Trypanosoma cruzi clones in human chronic chagasic cardiopathic and non-cardiopathic individuals.

PCR and Southern blot hybridization were used to determine the distribution of Trypanosoma cruzi clones in 37 chronic chagasic cardiopathic and non-cardiopathic patients. Parasite DNA amplified from peripheral blood or dejections of Triatoma infestans fed on patient blood was hybridized with probes containing hypervariable minicircle nucleotide sequences capable of detecting three sublineages of T. cruzi.

Subtractive hybridization and identification of putative adhesins in a Shiga toxin-producing eae-negative Escherichia coli.

Adherence to epithelial cells by specific adhesins is a characteristic of Shiga toxin-producing Escherichia coli (STEC) strains. The eae-encoded protein intimin is the main adhesin implicated in intestinal colonization in vivo. We recently showed that STEC strains isolated in Chile displayed a wide variety of adhesins; here we demonstrate that some of these STEC strains are eae-negative and still adhere to epithelial cells at a level 100-fold higher than enterohaemorrhagic E.

Participation in medical decision-making: attitudes of Italians with multiple sclerosis.

Background: Patient involvement in decisions regarding their care has been advocated, but preferences have not been adequately canvassed, particularly in people with multiple sclerosis (MS).

Objectives: To cross-culturally adapt and validate the Italian version of the Control Preference Scale (CPS) subsequently used to assess preferences of people with MS.

Methods: Translation-adaptation into Italian of CPS from the original Canadian English followed by administration in 140 people with MS from five Italian centers (with re-administration in 35) and semi-structured interview.

Evolutionary history of Trypanosoma cruzi according to antigen genes.

Trypanosoma cruzi, the agent of Chagas disease is associated with a very high clinical and epidemiological pleomorphism. This might be better understood through studies on the evolutionary history of the parasite. We explored here the value of antigen genes for the understanding of the evolution within T.

[Complete androgen insensitivity syndrome: diagnosis and clinical characteristics].

Complete androgen insensitivity syndrome (CAIS) is a genetic disease caused by mutations in the androgen receptor gene. CAIS patients are individuals with a 46, XY karyotype. The phenotype consists in female external genitalia, short vagina, absent mullerian structures, and abdominal, inguinal or intralabial testes.

ORF-C4 from the early branching eukaryote Giardia lamblia displays characteristics of alpha-crystallin small heat-shock proteins.

Giardia lamblia is a medically important protozoan parasite with a basal position in the eukaryotic lineage and is an interesting model to explain the evolution of biochemical events in eukaryotic cells. G. lamblia trophozoites undergo significant changes in order to survive outside the intestine of their host by differentiating into infective cysts.

Testing marginal homogeneity against stochastic order in multivariate ordinal data.

Many assessment instruments used in the evaluation of toxicity, safety, pain, or disease progression consider multiple ordinal endpoints to fully capture the presence and severity of treatment effects. Contingency tables underlying these correlated responses are often sparse and imbalanced, rendering asymptotic results unreliable or model fitting prohibitively complex without overly simplistic assumptions on the marginal and joint distribution. Instead of a modeling approach, we look at stochastic order and marginal inhomogeneity as an expression or manifestation of a treatment effect under much weaker assumptions.

Treatment of recurrent glioblastoma: can local delivery of mitoxantrone improve survival?

In this study, the records of 276 adult patients with recurrent glioblastoma (GBM) treated at recurrence at our institution between 2004 and 2006 were reviewed for progression-free survival (PFS), overall survival (OS), and toxicity. At recurrence, all patients underwent systemic treatment with temozolomide (200 mg/sqm on days 1-5 every 28 days) until tumor progression. Patients, whose tumor was judged resectable without risk of adjunctive neurological deficit, underwent a second surgery with or without positioning of a Rickam/Ommaya reservoir.

Trypanosoma cruzi infection in the sylvatic kissing bug Mepraia gajardoi from the Chilean Southern Pacific Ocean coast.

The Southern Pacific Ocean coast has been traditionally considered a non-active transmission area for Chagas disease. In this report, we show evidence of Trypanosoma cruzi infection in the sylvatic kissing bug Mepraia gajardoi from the northern Chilean coast.

The PCR-based detection of Trypanosoma cruzi in the faeces of Triatoma infestans fed on patients with chronic American trypanosomiasis gives higher sensitivity and a quicker result than routine xenodiagnosis.

In the xenodiagnosis (XD) of American trypanosomiasis (Chagas disease), Trypanosoma cruzi in the triatomine bugs fed on the patient can now be detected using PCR (XD-PCR) as well as by microscopy (XD-M). In a study to compare XD-PCR with XD-M, triatomine bugs were fed on 50 cases of chronic American trypanosomiasis, of whom only 25 were ever found positive by XD-M. Overall, the bugs fed on 34 of the patients (all 25 cases found positive by XD-M and nine of the other patients) were found PCR-positive, giving a 330-bp fragment corresponding to part of the hyper variable region of the kinetoplast DNA of T.

Coexistence of Trypanosoma cruzi genotypes in wild and periodomestic mammals in Chile.

Epidemiologic evidence suggests a preferential association of Trypanosoma cruzi genotypes TCI and TCII with marsupials and placental mammals, respectively. We identify T. cruzi genotypes from 117 infected mammals.

Reliability of clinical outcome measures in Charcot-Marie-Tooth disease.

We assessed inter- and intra-rater reliability of outcome measures in Charcot-Marie-Tooth disease (CMT) patients. In 40 CMT patients, we assessed reliability of Overall Neuropathy Limitations Scale (ONLS), 10-m timed walk (T10MW), 9-hole-peg test (9-HPT), maximal voluntary isometric contraction (MVIC) of arm (elbow flexion, hand-grip, and three-point pinch) and leg (knee extension, foot dorsiflexion/plantar flexion). Reliability was substantial for ONLS, excellent for T10MW and 9-HPT.

Susceptibility of Mepraia spinolai and Triatoma infestans to different Trypanosoma cruzi strains from naturally infected rodent hosts.

Trypanosoma cruzi is the causative agent of Chagas disease, a zoonosis involving domestic and sylvatic mammalian reservoirs. Since scarce information has been published about the susceptibility of T. cruzi lineages to other triatomine species besides Triatoma infestans, we evaluate the susceptibility of T.

Protein immunolocalization supports the presence of identical mechanisms of XY body formation in eutherians and marsupials.

The meiotic sex chromosomes of the American marsupials Monodelphis dimidiata and Didelphis albiventris were studied with electron microscopy (EM) and with immunofluorescence localization of meiotic proteins SYCP1 and SYCP3, and proteins essential for meiotic sex chromosome inactivation (MSCI), gamma-H2AX and BRCA1. The chromatin of the non-synaptic X and Y chromosomes contains gamma-H2AX, first as foci and then as homogeneous staining at late stages. The thick and split X and Y axes are labelled with BRCA1 except at one terminus.

A shortened version of PASAT-3 is feasible.

The Paced Auditory Serial Addition Test (PASAT), most used neuropsychological test in people with multiple sclerosis (pwMS), is available as PASAT-3 and more difficult PASAT-2. We determined PASAT performance in 105 pwMS and 105 matched controls and assessed the utility of a shortened PASAT-3 version. Qualitative and quantitative analyses were performed, the latter involving assessment of dyads (two consecutive correct responses) and singles (correct response between two omitted responses).

Cognitive profiles and visuoperceptual abilities in preterm and term spastic diplegic children with periventricular leukomalacia.

Although relations between the extent of periventricular leukomalacia and neuropsychological performance in preterm children with spastic diplegia have been extensively investigated, studies on term children with spastic diplegia are rare. The authors examined 15 preterm children and 9 term children with spastic diplegia, all of whom had periventricular leukomalacia as a main magnetic resonance imaging (MRI) finding (excluding full-term spastic diplegic children with other MRI findings). Cognitive abilities (Griffith scale) and visuoperceptual abilities (Developmental Test of Visual Perception) were compared in the 2 groups and related to periventricular leukomalacia severity.

Communicating the diagnosis of multiple sclerosis - a qualitative study.

Studies on communicating the diagnosis of multiple sclerosis (MS) are few, and all reveal communication and information deficits. We explored the personal experience of diagnosis communication of people with MS and health professionals, using a qualitative methodology. Data were obtained from two sets of focus group meetings (FGM) with people with MS (total 23; 16 females; age range: 23-70) and one FGMs with health professionals (four neurologists, three psychologists, two nurses).

Serotonin transporter polymorphism and fluoxetine effect on impulsiveness and aggression in borderline personality disorder.

Introduction: Impulsiveness and aggressiveness are characteristics of borderline personality disorder and are associated to a serotoninergic system dysfunction. Serotonin transporter polymorphisms have been linked to aggressive and impulsive behaviors. The short allele (S) in depression is associated to a worse response to selective serotonin reuptake inhibitors (SSRI).

Biological abnormalities of peripheral A(2A) receptors in a large representation of polyglutamine disorders and Huntington's disease stages.

Huntington's disease is one of a group of hereditary neurodegenerative diseases characterized by a glutamine expansion (polyQ) in proteins which are expressed in various cell populations. In agreement with this widespread distribution, we have previously shown that A(2A) receptor signaling is affected in mouse brain as well as in peripheral blood cells from a small cohort of HD patients. Here we analyzed a total of 252 subjects, including 126 HD gene-positive individuals, from different clinical sites.