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Biomedical subjects

Chiara Briani

Publications and source records attributed to Chiara Briani.

15 recordsLinked to original sources
PubMed2006

Absence of angiogenic genes modification in Italian ALS patients.

To investigate the role of vascular endothelial growth factor (VEGF) and angiogenin (ANG) as genetic determinants in the susceptibility to sporadic ALS in Italian patients. VEGF genotype and haplotype analysis revealed no association between any variants and the risk of ALS. Regarding ANG gene, no mutation was detected and the rs11701 polymorphism, previously described as associated with ALS, was not differently distributed between patients and controls. Overall, our data argue against the hypothesis of both genes as risk factors for motoneuron neurodegeneration, at least in an Italian population.

Amyotrophic Lateral Sclerosis↗
PubMed2006

Development of a mantle cell lymphoma in an ATM heterozygous woman after occupational exposure to ionising radiation and somatic mutation of the second allele.

Predisposition to lymphomagenesis is a well-known phenomenon of ataxia-telangiectasia, a recessive disorder caused by germline inactivation of ATM. ATM encodes a protein implicated in the repair of radiation induced double-strand breaks. Biallelic ATM inactivation was described also in sporadic lymphoid malignancies, supporting a role of ATM as a tumour suppressor gene. It is, however, still unclear whether ATM heterozygotes are at higher risk of tumours. We describe an ATM heterozygous patient, who developed a mantle cell lymphoma (MCL) after occupational exposure to ionising radiation and somatic mutation of the second ATM allele supporting the contention that heterozygous germline ATM alterations in combination with irradiation exposure predisposes to sporadic MCL.

Alleles↗
PubMed2006

Polymyositis-dermatomyositis and infections.

In genetically predisposed individuals, viruses, bacteria, or parasitic infectious agents are suspected to induce autoimmunity and/or to exacerbate the disease once the self-tolerance is broken. Although direct evidence for this association is still lacking, numerous data from animal models as well as from humans support the hypothesis of a direct contribution of pathogens to the induction of several autoimmune diseases. This review focused on the possible role of infectious agents as triggers of autoimmunity in polymyositis (PM) and dermatomyositis (DM). Epidemiological studies, clinical and experimental findings that support the hypothesis of infection-induced PM and DM are summarized and discussed. In addition, immune response abnormalities and immunosuppressive medications may be responsible for the high percentage of infectious complications in PM and DM patients. In this review, the increased risk of developing infections in these patients is also underlined and published data are reported.

Animals↗
PubMed2006

Successful treatment of long-standing post-stroke dysphagia with botulinum toxin and rehabilitation.

Cricopharyngeal myotomy is the most common treatment used to restore normal swallowing in patients with persistent (>6 months) cricopharyngeal muscle dysfunction post-stroke. We describe 2 patients whose dysphagia was due to cricopharyngeal muscle over-activity and who significantly improved after a percutaneous botulinum toxin injection in the cricopharyngeal muscle in combination with a rehabilitation treatment (dietary modifications, postural techniques, airflow protection manoeuvres). Swallowing was assessed clinically and by fibreoptic endoscopic evaluation of swallowing and videofluoroscopy; the degree of dysphagia was scored using the penetration-aspiration scale. Two months after the botulinum toxin injection the patients, who were previously fed via percutaneous endoscopic gastrostomy, returned to independent oral feeding and at 6, 12 and 24 months follow-up, both were still able to maintain an adequate oral intake with no signs of aspiration (by videofluoroscopy) or clinical complications. No further botulinum toxin injections or rehabilitation treatments were required. Our findings strongly suggest that even long-standing dysphagia can improve dramatically in selected patients. To the best of our knowledge, there are no other reports with such a long follow-up.

Aged↗
PubMed2006

Multi-center assessment of the Total Neuropathy Score for chemotherapy-induced peripheral neurotoxicity.

The aim of this multi-center study was to assess with reduced versions of the Total Neuropathy Score (TNS), the severity of chemotherapy-induced peripheral neurotoxicity (CIPN), and to compare the results with those obtained with common toxicity scales. An unselected population of 428 cancer patients was evaluated at 11 different centers using a composite (clinical + neurophysiological, TNSr) or clinical (TNSc) examination and with the National Cancer Institute - Common Toxicity Criteria (NCI-CTC) 2.0 and Eastern Cooperative Oncology Group (ECOG) scores. A highly significant correlation was demonstrated between the TNSr and the NCI-CTC 2.0 and ECOG scores; but the TNSr evaluation was more accurate in view of the more extended score range. Also, the simpler and faster TNSc (based only on the clinical neurological examination) allowed to grade accurately CIPN and correlated with the common toxicity scores. The correlation tended to be closer when the sensory items were considered, but also the TNSr motor items, which were not specifically investigated in any other previous study, significantly correlated with the results of the common toxicity scales. In conclusion, this study suggests that the TNSr is a reliable tool for accurately grading and reporting CIPN, with the additional and so far unique support of a formal comparison with known and widely used common toxicity scales. The TNSc is a valid alternative if neurophysiological examination is not feasible. The longer time needed to calculate the TNSr and TNSc in comparison to the ECOG or the NCI-CTC 2.0 scales is offset by the more detailed knowledge of the CIPN characteristics.

Adolescent↗
PubMed2005

Polyneuropathy in POEMS syndrome: role of angiogenic factors in the pathogenesis.

In order to clarify the role of angiogenic factors in polyneuropathy of POEMS (polyneuropathy, organomegaly, endocrinopathy, monoclonal gammopathy, skin changes) syndrome, we measured the serum concentrations of vascular endothelial growth factor (VEGF) and erythropoietin (EPO) in 11 patients and correlated these with VEGF and EPO peripheral nerve expression and the degree of endoneurial vessel involvement. We found that POEMS syndrome was associated with high levels of serum VEGF and, conversely, low levels of serum EPO. Similarly, in POEMS nerves VEGF was highly expressed in blood vessels and some non-myelin-forming Schwann cells. In contrast, the expression of VEGF receptor 2 was down-regulated compared with that in normal nerves. Both EPO and EPO receptor were localized to the nerve vasculature and were expressed to similar extents in normal and POEMS nerves. The inverse correlation between VEGF and EPO serum levels was maintained during the clinical course; however, both levels returned to normal when there was a response to therapy. High serum VEGF, low serum EPO and high peripheral nerve VEGF were all associated with more severe endoneurial vessel involvement and nerve damage. Light microscopy showed an increased thickness of the basal lamina and a narrowing of the lumina of endoneurial vessels in POEMS samples, while proliferation of endothelial cells and opening of tight junctions were observed by electron microscopy. The present data support the role of angiogenic factors as diagnostic and prognostic markers of POEMS syndrome. They also suggest that VEGF and EPO are involved in the pathogenesis of polyneuropathy. In conclusion, establishing the role of angiogenic factors in polyneuropathy may lead to a better understanding of the effects of VEGF and EPO on microangiopathy and Schwann cell function.

Adult↗
PubMed2004

Anti-heparan sulphate antibodies and homocysteine in dementia: markers of vascular pathology?

Increasing evidence supports a pathogenic role of heparan sulphate (HS) in the development of dementia. Since HS proteoglycans are present in the endothelial cells and perivascular basement membrane, we wanted to assess blood titres of HS antibodies (Abs) in patients with vascular dementia (VD) and in patients with Alzheimer's disease (AD) with cerebrovascular disease (CVD) [mixed dementia (MixD)]. Moreover, plasma levels of homocysteine, an independent risk factor for the development of dementia as well as for CVD, were also determined. High HS Abs titres were present in one patient with VD and in two patients with mixed dementia, as well as in two neurological control patients (stroke and epilepsy). Increased homocysteine levels were found in 62.5% of patients with mixed dementia, in 22.2% of the VD subjects, in 54.2% of patients with CVD, and in 41.2% of patients with other neurological diseases. The present findings suggest that neither elevated HS Abs titres nor increased homocysteinemia may represent a useful biochemical marker for the diagnosis of VD.

Adolescent↗
PubMed2004

The role of botulinum toxin injection and upper esophageal sphincter myotomy in treating oropharyngeal dysphagia.

The aims of this study were to assess the efficacy and safety of botulinum toxin (BoTox) injection in the cricopharyngeus muscle (CP) and CP myotomy in patients with oropharyngeal dysphagia (OPD) and to identify factors predicting the outcome of these treatments. The study involved patients with persistent OPD despite 2-6 months of rehabilitation, who all underwent clinical evaluation, esophageal manometry, upper gastrointestinal endoscopy, and videofluoroscopy (VFS). Patients received 5-10 BoTox units injections in the CP, identified by electromyography. Surgical myotomy of the upper esophageal sphincter was performed when dysphagia persisted after two BoTox injections. After treatment, patients were reevaluated with clinical interviews and VFS. The study population included 21 patients (15 mean and 6 women; median age, 68 years), classified into three groups, based on the etiology of their OPD: eight (38%) had central nervous system abnormalities, five (24%) had peripheral nerve disease, and eight (38%) were classified as idiopathic. The median time since the onset of dysphagia was 18 months. Thirteen of 21 patients (62%) needed supplemental/total gastrostomy feeding, and 5 of 21 (24%) had tracheostomy. One patient died, on posttreatment day 7, due to massive aspiration. No other BoTox-related complications were observed. After BoTox injection, dysphagia improved in 9 of 21 (43%) patients. Severely altered VFS findings and CP incoordination or low activity predicted BoTox failure at multivariate analysis. Dysphagia improved in 8 of 11 (72.7%) patients who failed to respond to BoTox and underwent myotomy. A mild impairment of VFS findings and a higher pressure of pharyngeal contractions best predicted response to BoTox with or without myotomy. BoTox injection can be used as the first therapeutic option in patients with OPD: it is safe and simple and relieves dysphagia in 43% of cases. If BoTox fails, CP myotomy can be offered to patients with preserved oral and tongue activity at VFS and an intact bolus propulsion ability on manometry.

Aged↗
PubMed2002

Detection of anti-ganglioside antibodies in Guillain-Barré syndrome and its variants by the agglutination assay.

Sera from 40 patients with Guillain-Barré syndrome (GBS), including the subtypes acute inflammatory demyelinating polyneuropathy (AIDP), acute motor axonal neuropathy (AMAN), acute motor and sensory axonal neuropathy (AMSAN), and Miller Fisher syndrome (MFS) were examined for the presence of anti-ganglioside antibodies using the ganglioside agglutination assay, and the enzyme-linked immunosorbent assay (ELISA). In the ELISA system, sera were tested for IgM and IgG antibodies to GM1, GM2, GD1a, GD1b, GT1b, and GQ1b gangliosides. Antibodies to gangliosides were detected in 21 (53%) of the GBS patients by agglutination assay and in 17 (43%) of the patients by ELISA. Some of the sera reacted with more than one ganglioside. Antibodies were not found in the control sera that were studied. The agglutination assay may be useful for rapid screening of GBS sera for antibodies to multiple gangliosides.

Agglutination Tests↗
PubMed2002

Anti-heparan sulfate antibodies in neurological disease.

Antibodies to heparan sulfate (HS) have previously been found in association with peripheral neuropathy. We tested sera from patients with neuropathies and with other neurological diseases for antibodies to HS using an avidin-biotin enzyme-linked immunosorbent assay (ELISA) system. Increased titers of anti-HS antibodies were found in 3.4% of patients with neuropathy, and in 3% of patients with other neurological diseases. In all cases, however, an inflammatory disease was present, including chronic inflammatory neuropathy, cerebral vasculitis, or multiple sclerosis. Antibodies to HS appear not to be specific for neuropathy, as they occur in several inflammatory diseases. They might contribute to the associated breakdown of the blood-brain or blood-nerve barrier.

Autoantibodies↗