Increased factor VIII coagulant activity levels in male carriers of the factor V R2 polymorphism.

A common factor V gene haplotype, the FVR2 haplotype (FVHR2), has been associated with a reduced cofactor activity in activated protein C-mediated activated factor VIII inactivation. Our aim was to investigate the role of FVHR2 as a possible determinant of factor VIII levels in a population study. A total of 516 individuals (401 men, 115 women; mean age 58.4 +/- 10.8 years) were enrolled within the frame of a regional cardiovascular survey, characterized for factor VIII coagulant activity (FVIII:c) and factor V coagulant activity (FV:c) levels, and genotyped for factor V polymorphisms. In men without signs of overt inflammation, FVHR2 carriers had higher levels of FVIII:c than noncarriers (154 IU/dl, 95% confidence interval = 143-166 versus 142 IU/dl, 95% confidence interval = 138-147; P = 0.045) and were more represented in individuals with high (> or = 150 IU/dl) FVIII:c levels (21.2 versus 10.8%; odds ratio = 2.27, 95% confidence interval = 1.17-4.39 after adjustment for age, blood group and high-sensitivity C-reactive protein levels). In conclusion, this clinical report suggests the common FVHR2 as a possible independent determinant of FVIII:c levels. The report concomitantly addresses the relationship between factor V and factor VIII levels and supports the hypothesis of a mild prothrombotic role of FVHR2 by means of increased factor VIII levels.     

Transitional progressive multiple sclerosis: MRI and MTI findings

Transitional progressive multiple sclerosis (MS) is quite an unusual form of presentation and course of the disease. A case with this progressive form is presented and brain MRI and MTI findings are discussed in relation to the possible insight they may provide for understanding the mechanisms that determine progressive disability in MS.     

Iatrogenic Impairment of Hearing During Surgery for Acoustic Neuroma

Isolated or combined labyrinthine, neural, and vascular damage account for failure to preserve hearing during removal of acoustic neuromas. However, the specific mechanisms of auditory impairment remain unclear unless surgical maneuvers can be related to peri- and postoperative hearing on the basis of intraoperative monitoring of auditory function.

Among the different auditory monitoring techniques, recording of cochlear nerve action potentials (CNAPs) from the intracranial portion of the nerve has proven particularly useful for identifying the mechanisms of iatrogenic auditory injury.

The present investigation analyzes intra- and postoperative auditory impairment in relation to surgical steps in a group of 38 subjects with acoustic neuroma (size ranging from 5 to 24 mm) undergoing removal via a retrosigmoid approach.

Coagulation close to the cochlear nerve, drilling of the internal auditory canal, and removal of the intrameatal portion of the acoustic neuroma have prove to be the most critical surgical steps in hearing preservation.

Changes were correlated with intra- and extrameatal tumor size, the relationship between the internal auditory canal and vestibule, and internal auditory canal enlargement, anatomic involvement of the cochlear nerve, preoperative auditory level, and ABR and ENG test findings.

Changes in CNAP morphology and latency are detailed, and mechanisms of injury are analyzed and discussed as a function of these variables.

     

Endoscopic treatment of benign tumors of the nose and paranasal sinuses.

OBJECTIVE: The endoscopic approach can be successfully employed for the treatment of benign tumors such as fibroosseus and vascular lesions, pleomorphic adenomas, gliomas, and schwannomas. STUDY DESIGN AND SETTING: Nineteen patients diagnosed with benign tumors of the nasal cavity and paranasal sinuses and treated using an endoscopic approach were retrospectively reviewed. The endoscopic approach was used exclusively in 15 cases and was associated with an external approach in 4 cases (due to an intracranial extension of the tumor in 3 patients and its location at the level of the anterior wall of the frontal sinus in the last case). RESULTS: The resection of the lesions was radical in 18 patients and subtotal in 1 case. The mean follow-up was 27 months and only 1 recurrence (5%) was observed in the juvenile angiofibroma group 20 months postoperatively. CONCLUSION: and significance In selected cases, endoscopic surgery can be considered an effective treatment for the resection of benign tumors involving the sinonasal tract.     

Diffusion-weighted imaging study of patients with essential tremor.

The pathophysiology of essential tremor (ET) is unknown. PET and fMRI studies have revealed bilateral activation and (1)H-MRS studies metabolic abnormalities in the cerebellum and other functionally related brain structures in ET. Diffusion-weighted imaging (DWI) was used to search for evidence of tissue integrity abnormalities in these areas in ET patients and 10 matched controls by calculating water apparent diffusion coefficients (ADCs). Regions of interest included the left and right cerebellum, red nucleus, thalamus, caudate, putamen, pallidum, and frontal white matter. Histograms of ADCs were generated for all pixels in the infratentorial compartment and manually segmented areas corresponding to brainstem, vermis, and cerebellar hemispheres. ADC values were similar in all brain areas in patients and controls. Our study did not detect changes affecting the investigated brain regions in ET patients. These findings argue against major structural damage in the ET brain, although more subtle neurodegenerative changes cannot be ruled out.