Search results for "MULTIPLE"

2021

ObjectiveTo assess the safety and efficacy of epigallocatechin-3-gallate (EGCG) add-on to glatiramer acetate (GA) in patients with relapsing-remitting multiple sclerosis (RRMS).MethodsWe enrolled patients with RRMS (aged 18–60 years, Expanded Disability Status Scale [EDSS] score 0–6.5), receiving stable GA treatment in a multicenter, prospective, double-blind, phase II, randomized controlled trial. Participants received up to 800 mg oral EGCG daily over a period of 18 months. The primary outcome was the proportion of patients without new hyperintense lesions on T2-weighted (T2w) brain MRI within 18 months. Secondary end points included additional MRI and clinical parameters. Immunologic eff…

Correlation of cognition and FDG-PET findings in early multiple sclerosis

2007

Introduction: Patients with multiple sclerosis (MS), disease history of 11.5 years, an expanded disability status scale (EDSS) up to 6.0 and an involvement of verbal and/or spatial and long-term memory showed a bilateral reduction of glucose metabolism in the cingulate gyrus, thalamus, associative occipital cortex and cerebellum. To our knowledge no similar studies in early stages of MS are reported. Therefore we stressed the question of possible correlation of quality of life, objective cognitive impairment and FDG-PET findings in newly diagnosed definite MS according to McDonald criteria. Methods: In 11 patients (f=4, m=7, mean age: 35 years (CI 25–42), IQ 112 (CI 97–118)) with newly diag…

A transcranial magnetic stimulation study evaluating methylprednisolone treatment in multiple sclerosis

2002

Objective To investigate the efficacy of two different high doses of intravenous methylprednisolone (IVMP) during Multiple Sclerosis (MS) relapses. Background Transcranial Magnetic Stimulation (TMS) is the most sensitive neurophysiological ascertainment to quantify motor disability, to follow the recovery from an MS relapse, and to detect the response to treatment. Design and method Twenty-four clinically definite relapsing - remitting MS patients presenting a relapse were randomly assigned to a treatment for 5 days with IVMP 1 or 2 g/day. The response to treatment of each patient was evaluated through Expanded Disability Status Scale (EDSS), Medical Research Council (MRC) score, and TMS by…

The role of hemostatic devices in neurosurgery. A systematic review.

2021

Hemostasis represents a fundamental step in every surgical procedure. During neurosurgical procedures, proper and robust hemostasis into confined spaces can significantly reduce the odds of perioperative complications. Over the decades, multiple methods have been applied, and several medical devices have been developed to promote and guarantee proper hemostasis. This study presents a systematic review of the most used intraoperative hemostatic methods and devices in neurosurgery. Insightful research was performed on the PubMed database according to the PRISMA guidelines. This comprehensive review of scientific literature represents a synoptic panel where the most used intraoperative hemosta…

Systematic search for neutropenia should be part of the first screening in patients with poikiloderma.

2011

Poikiloderma occurs in a number of hereditary syndromes, the best known of which is Rothmund-Thomson syndrome (RTS). Differential diagnoses include Dyskeratosis Congenita (DC) with high genetic heterogeneity and Clericuzio-type Poikiloderma with Neutropenia (CPN) due to mutations in the C16orf57 gene. Mutations in the RECQL4 gene are only observed in two thirds of RTS patients. In this study, 10 patients referred for syndromic poikiloderma and negative for RECQL4 sequencing analysis were investigated for C16orf57 mutations. Two C16orf57 heterozygous nonsense mutations (p.W81X and p.Y89X) were identified in a 5-year-old female child presenting with generalized poikiloderma, dental dysplasia,…

Case report supporting that the Barber-Say and ablepharon macrostomia syndromes could represent one disorder.

2009

We report on a 7-year-old girl with unequivocal features of Barber-Say syndrome (BSS): generalized hypertrichosis especially at the back, dry lax skin, macrostomia, thin lips, cup-shaped ears, bulbous nose, hypoplastic nipples, and abnormal external genitalia. She also demonstrated conductive hearing impairment and microblepharon. BSS has been reported with ectropion (not present in our patient), but ablepharon and microblepharon (i.e., absent or hypoplastic eyelids) have always been considered as hallmarks of ablepharon macrostomia syndrome (AMS). This is the first report of microblepharon in BSS. Other authors have discussed that BSS and AMS could possibly represent one syndrome, and our …

Cardiovascular comorbidity in multiple sclerosis patients treated with mitoxantrone therapy: a cohort study

2017

Abstract Background Mitoxantrone (MX) has been used as second line therapy for aggressive multiple sclerosis (MS). Potential cardiotoxic effects of MX limit its use; a cumulative dose of up to 100 mg/m2, has been long considered relatively safe. We calculated the frequency of cardiac side effects in MS patients treated with MX. Methods We performed a cohort study including all MS patients treated with MX at the Neurological Department of the University Hospital of Palermo, Italy. Two hundred-sixty-four MS patients diagnosed according to validated criteria were included and followed-up until the end of September 2010. Patients were treated with MX as a second line therapy if they had no prev…

Congenital malformations and perinatal morbidity associated with intestinal neuronal dysplasia.

1998

A close relation between different forms of dysganglionosis such as intestinal neuronal dysplasia (IND) type B and aganglionosis has been established. No systematic analysis of other malformations and diseases accompanying IND has been made as yet. Congenital malformations and perinatal morbidity were analyzed in 109 patients with IND seen at the Department of Pediatric Surgery in Mainz from 1977 to 1996. IND was associated with Hirschsprung's disease in 47 cases; 22 children with IND had other abdominal malformations, including anal atresia, rectal stenosis, sigmoidal stenosis, ileal atresia, pyloric stenosis, and esophageal atresia. A cystic bowel duplication, a choledochal cyst, and a pe…

Oral findings in Midline Syndrome: a case report and literature review

2010

We describe a female patient with a midline syndrome. The patient presents agenesis of the corpus callosum, encephalocele, iris coloboma, hypertelorism, submucosal cleft palate and dental anomalies. Despite being very characteristic, her phenotypical traits do not coincide exactly with those reported to date in the literature. The karyotype and the molecular cytogenetic study do not show mutations. We identify the presence of dental anomalies in the mother and other family members, not being identified MSX1 and PAX9 mutations that could the related with their etiology. Despite the fact that dental agenesis has been related to a large number of other malformation syndromes and congenital con…

Evidence for a specific link between the personality trait of absorption and idiopathic environmental intolerance.

2008

Absorption as a personality trait refers to the predisposition to get deeply immersed in sensory (e.g., smells, sounds, pictures) or mystical experiences, that is, to experience altered states of consciousness. Absorption is markedly related to constructs openness to experiences, hypnotic suggestibility, imagination, and dissociation. Although absorption was hypothesized to be a risk factor for medically unexplained symptoms (MUS), the construct has yet not been investigated in individually suffering from idiopathic environmental intolerance (IEI), formerly better known as multiple chemical sensitivity (MCS). IEI is a complex condition marked by MUS, which patients attribute to various chem…