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Biomedical subjects

G Montagna

Publications and source records attributed to G Montagna.

At least 19 recordsLinked to original sources

Familial basilar migraine associated with a new mutation in the ATP1A2 gene.

Basilar migraine (BM), familial hemiplegic migraine (FHM), and sporadic hemiplegic migraine (SHM) are phenotypically similar subtypes of migraine with aura, differentiated only by motor symptoms, which are absent in BM. Mutations in CACNA1A and ATP1A2 have been found in FHM. The authors detected a novel mutation in the ATP1A2 gene (R548H) in members of a family with BM, suggesting that BM and FHM may be allelic disorders.

Adolescent↗

Clinical and genetic studies in hereditary spastic paraplegia with thin corpus callosum.

BACKGROUND: A complicated form of recessive hereditary spastic paraplegias (HSPs) with thin corpus callosum (TCC) was first described in Japan, and most of the Japanese families showed linkage to chromosome 15q13-15. A recessive HSP locus (SPG11) has also been mapped to chromosome 15q13-15 in Italian and North American families with and without TCC, and it overlaps the region identified in the Japanese families. OBJECTIVE: To study clinically and genetically 12 Italian families with HSP and TCC. METHODS: The authors investigated 18 affected and 30 healthy individuals from 12 unrelated Italian families with recessive HSP-TCC. Clinical, neurophysiologic, and neuroradiologic studies were undertaken. All patients were negative for SPG7 mutations. Genetic linkage analyses were carried out with polymorphic DNA markers on 15q13-15. RESULTS: Five families were consistent with linkage, thus defining a 19.8-cM region between markers D15S1007 and D15S978, encompassing the SPG11 interval. In one consanguineous family, linkage could be firmly excluded, confirming genetic heterogeneity. Two families appeared not linked to the region, but this could not be firmly proved because of the small family size. The remaining four families were uninformative for linkage purposes. CONCLUSION: HSP-TCC is common in Italy. The phenotype is fairly homogeneous and is associated with impaired cognition. There are at least two loci for HSP-TCC, one of which is on chromosome 15q13-15.

Adolescent↗

3-month formulation of goserelin acetate ('Zoladex' 10.8-mg depot) in advanced prostate cancer: results from an Italian, open, multicenter trial.

OBJECTIVES: To determine the endocrine effects, efficacy and tolerability of the 3-month formulation of goserelin acetate ('Zoladex' 10.8-mg depot; 'Zoladex' is a trade mark of the AstraZeneca group of companies) in the treatment of patients with advanced prostate cancer. METHODS: Between February 1996 and October 1997, this open, multicentre study enrolled 120 patients with locally advanced (T3/4) or metastatic (N+ or M1) disease, or an increase in prostate-specific antigen (PSA) level after radical prostatectomy. Patients received goserelin acetate 10.8-mg depot every 12 weeks until clinical progression or interruption for adverse events or other reasons. RESULTS: The mean testosterone concentrations were suppressed to the castration range (< or =2 nmol/l) after 4 weeks of treatment and remained suppressed throughout the study. In total, 99/115 (86%) patients had a serum PSA response, and the mean PSA value decreased significantly during treatment (p = 0.006). The mean PSA level at baseline was significantly lower in patients without disease progression compared to those who experienced disease progression (p = 0.0002). Goserelin acetate 10.8-mg depot was well tolerated and there were no injection site reactions. CONCLUSIONS: The goserelin acetate 10.8-mg depot is well tolerated with no injection site reactions. It produces PSA responses and provides reliable suppression of serum testosterone.

Aged↗

Impairment of cellular redox status and membrane protein activities in kidneys from rats with ischemic acute renal failure.

Cellular redox status and membrane protein activities were analyzed in kidneys from rats with ischemic acute renal failure (ARF). ARF was induced by clamping the left renal artery for 50 min. A parallel group of control animals was processed. In the ischemic group urea plasma levels were statistically increased as compared with the control group. Studies employing whole kidney homogenates revealed that ischemia produces an increment in lipid peroxidation levels and a reduction in glutathione concentration and in superoxide dismutase and glutathione peroxidase activities. Since lipid peroxidation may alter the function of membrane proteins we determined succinate cytochrome c reductase (SuccR), sodium-potassium ATPase (Na-K-ATPase), glucose-6-phosphatase (G-6-Pase) and alkaline phosphatase (ALP) activities in whole renal homogenates. Only G-6-Pase and ALP activities were modified by ischemia. Since ALP is a brush border membrane (BBM) enzyme and BBM is one of the main target structures in ARF, we assessed some parameters of BBM functionality. ALP, gamma-glutamyl transferase (gamma-GT) and 5'-nucleotidase (5'-NT) showed diminished activities in BBM from ischemic kidneys. Ischemia also modified the Vmax of paraaminohippuric acid (PAH) uptake without altering Km. An increment of lipid peroxidation and membrane fluidity in BBM was observed after the treatment. Total membrane proteins and protein recoveries in BBM were similar in both experimental groups. Sialic acid and sulfhydryl levels were similar in BBM from ischemic kidney and control ones. In summary, ARF induced by renal artery clamping for 50 min takes place with a significant increase in urea plasma levels. A decrease in the antioxidant defense system is detected. This induces lipid peroxidation in whole renal tissue, which may justify the diminished activities of some membrane enzymes such as G-6-Pase and ALP. A specific analysis of BBM function reveals a significant increment of lipid peroxidation which may be the cause of an increased membrane fluidity. This latter parameter might be, at least in part, responsible for the damaged function of apical ALP, 5'-NT, gamma-GT and PAH carrier.

Acute Kidney Injury↗

Non-destructive characterization of hydrogels.

Hydrogels have been prepared by a freezing-thawing procedure and investigations made of the effect of both number of freezing-thawing cycles and different content of hyaluronic acid (HA) on the mechanical properties of the PVA-HA hydrogels using non-destructive testing. The bulk elastic modulus K of hydrogels has been determined by pulse-echo measurements. It is noted that hydrogel elastic properties improve with the number of the cycles in PVA-HA 100/0; on the other hand samples with a high HA (1,000,000 molecular weight) content, beyond the third cycle, seem to be unaffected by the number of cycles. A bulk elastic modulus fall-off is then observed in samples submitted to an additional overnight freezing between two subsequent cycles. K increases in hydrogels with the highest HA content, when samples undergo pulse-echo measurements soon after their preparation. When hydrogels reach equilibrium, after having been kept in deionized water for 12 h, K values are lower, showing a nearly constant behaviour with different PVA-HA ratios and cycles. Furthermore, by means of scanning laser acoustic microscopy (SLAM) defects have been detected in the hydrogels. In samples which have reached equilibrium, SLAM images show that these defects disappear in PVA-HA hydrogels.

Journal Article↗

Use of statistical classifiers as support tools for the diagnosis of iron-deficiency anemia in patients on chronic hemodialysis.

Discriminant analysis, logistic regression and neural network models were applied to the diagnosis of iron-deficiency anemia in hemodialyzed patients. The ability of the three quantitative approaches to distinguish between subjects suffering or not from iron-deficiency anemia was compared by re-substitution and cross-validation testing. Methods performance was evaluated by means of sensitivity, specificity and accuracy. All the methods performed globally well (sensitivity and specificity > 0.85), revealing that the problem is classifiable. Neural networks showed the highest accuracy, both in the re-substitution (models developed and tested on the complete data set) and 3-way cross-validation (data set randomly splitted into 3 developmental and validation data sets) testing. These preliminary results suggest that the correct classification of iron status in the hemodialytic population can be treated as a pattern classification problem, for which neural networks and traditional statistical modelling can be a valuable aid to the clinical diagnosis of iron-deficiency anemia. A better performance of the neural network model must be confirmed through prospective testing on a larger data set.

Anemia, Iron-Deficiency↗

Evaluation of the triangular fibrocartilage complex tears by arthroscopy, arthrography, and magnetic resonance imaging.

Arthroscopic findings in 11 patients with chronic ulnar painful wrist were compared both with arthrographic and magnetic resonance (MR) imaging results to evaluate the accuracy of the former procedure in the detection of triangular fibrocartilage complex (TFCC) lesions. MR imaging and arthrography investigations appeared to be sensitive modalities when compared with arthroscopic findings in TFCC lesions (specificity 100%; sensitivity 82 and 80%). MR imaging can be advantageously employed in the screening of patients suspected of having a TFCC tear, eliminating the necessity of an arthrographic examination. However, MR imaging could not define the exact site of the tear within the degenerate TFCC or detect lesions of the articular cartilage. Arthroscopy offers sure evidence of the site of TFCC lesion and more information about the intraarticular associated causes of chronic ulnar wrist pain such as chondromalacia and synovitis. An added benefit is that many of the pathologies seen can be treated using arthroscopic surgical techniques.

Adolescent↗

Transperineal vesiculodeferentography under ultrasound control: first experiences.

Vesiculodeferentography (VDG) plays an important role in diagnosing male infertility and staging of prostatic cancer; the techniques of performing the examination are, today, well codified: 1) retrograde, by endoscopic cannulation of ejaculatory ducts; 2) anterograde, by cannulation of the deferent duct surgically prepared at the scrotum. In order to avoid the difficulties of the first method and the risks in the second (like stenosis and fibrosis of the deferent duct) we propose a new simple and safe method based on the direct transperineal puncture of the seminal vesicle under direct echographic control with a transrectal probe. We have studied 16 patients, mainly in order to stage prostatic cancer; the procedure was easy to perform, well tolerated and without consequences at seminal level. It required only 30 minutes, without anaesthesia and with a very low cost. The method permits a clear visualisation of anatomical structures and of possible pathologies with particular reference to vesicular invasion by a prostatic cancer.

Catheterization↗

Neurophysiological assessment of the early phases of carpal tunnel syndrome with the inching technique before and during operation.

In 14 patients with early carpal tunnel syndrome, the diagnostic sensitivity of the measurement of the segmental sensory nerve conduction velocity at 1 cm. steps ("inching") was compared with the distal sensory latency and the pre-operative wrist-digit and wrist-palm S.C.V. and with similar measurements made at operation immediately after surgical decompression of the nerve. Before operation, distal sensory latency and wrist-digit S.C.V. were normal in all cases, while wrist-palm S.C.V. was pathological in five patients and inching in all 14 patients. Moreover, inching allowed us to determine the site of the slowing across the carpal tunnel, this being between 1-2 cm. from the distal wrist crease in 57% and between 2-3 cm. in 21% of cases. Focal slowing disappeared immediately after decompression in five patients, as is evident from the intra-operative recordings. Inching is, therefore, the most sensitive diagnostic method in early carpal tunnel syndrome.

Action Potentials↗

Adjuvant tamoxifen in primary breast cancer: influence on plasma lipids and antithrombin III levels.

The possible estrogenic effects of tamoxifen on plasma lipids and antithrombin III levels were investigated in 91 breast cancer patients. Mean values of total, HDL and LDL cholesterol, triglycerides, glucose, uric acid, and antithrombin III were evaluated in 55 patients on adjuvant tamoxifen for at least 3 months and compared with those found in 36 patients on no therapy. Total cholesterol, LDL cholesterol, and antithrombin III levels were significantly lower in treated patients (p less than 0.05). Our results support the hypothesis of a partial agonist action of this antiestrogen, although general clinical practice suggests that tamoxifen-related thrombotic events are rare.

Antithrombin III↗