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Biomedical subjects

L Pasquali

Publications and source records attributed to L Pasquali.

At least 19 recordsLinked to original sources
PubMed2006

Cis and trans regulatory elements in NPHS2 promoter: implications in proteinuria and progression of renal diseases.

Podocin (NPHS2) expression in podocytes is associated with variable degrees of proteinuria and progression to renal failure in different glomerular diseases that suggests different expression profiles in NPHS2 promoter. Three functional polymorphisms in NPHS2 promoter (-51T, -116T, and -535 insCTTTTTT(3)) were found determining strong downregulation (-73, -59, and -82%, respectively) of the reporter gene expression when transfected in podocytes. Electrophoretic mobility shift assay experiments showed that all wild-type variants (-51G, -116C, and -535 insCTTTTTT(2)) formed specific DNA-protein complexes with podocyte nuclear extracts that were abolished by the presence of the rare forms (-51T, -116T, and -535 insCTTTTTT(3)). In the case of -51G, upstream stimulatory factor-1 (USF1) was identified as the specific trans element in accord to binding inhibition experiments and USF1 RNAi silencing. Haplotype analysis of 204 normal controls and 545 patients with renal diseases (308 immunoglobulin (Ig)A nephropathy and 237 focal segmental glomerulosclerosis) evidenced that -116/-51 and -535/P2OL formed two blocks in strong linkage disequilibrium in both normal and pathological cohorts. The high NPHS2 promoter profile -116C/-51G haplotype was more frequent in patients with IgA nephropathy (P-value=0.005) and was associated with a better clinical outcome in terms of proteinuria and creatinine levels. Overall our study describes functional variants of NPHS2 promoter and characterizes trans-acting elements that modulate podocin expression in the kidney. High producer NPHS2 promoter haplotypes seem protective in patients with chronic glomerular diseases.

Adolescent↗
PubMed2005

Long-term follow-up of 106 multiple sclerosis patients undergoing interferon-beta 1a or 1b therapy: predictive factors of thyroid disease development and duration.

BACKGROUND: Conflicting data have been reported on the association between interferon (IFN)-beta therapy of multiple sclerosis (MS) patients and thyroid disease development. AIMS: The goals of this study are as follows: to assess the actual occurrence of thyroid dysfunction and autoimmunity during long-term IFN-beta therapy; to establish the possible presence of predictive factors for thyroid dysfunction development and duration; and to suggest an effective follow-up protocol for patients receiving long-term IFN-beta therapy. STUDY PROTOCOL: A total of 106 MS patients (76 women) underwent IFN-beta 1a or 1b therapy for up to 84 months (median, 42 months). Thyroid function and autoimmunity were assessed at baseline and every 3-6 months throughout the treatment course. RESULTS: Baseline thyroid autoimmunity was detected in 8.5% of patients and hypothyroidism in 2.8%. Thyroid dysfunction (80% hypothyroidism, 92% subclinical, 56% transient) developed in 24% (68% with autoimmunity) of patients and autoimmunity in 22.7% (45.5% with dysfunction), without significant differences between the two cytokines; 68% of dysfunctions occurred within the first year. Autoimmunity emerged as the only predictive factor for dysfunction development (relative risk, 8.9), whereas sustained disease was significantly associated with male gender (P < 0.003). CONCLUSIONS: Both incident thyroid autoimmunity and dysfunction frequently occur in MS patients during IFN-beta therapy, particularly within the first year of treatment. Thyroid dysfunction is generally subclinical and transient in over than half of cases; preexisting or incident autoimmunity emerged as the only significant predictive factor for thyroid dysfunction development. Thyroid function and autoimmunity assessment is mandatory within the first year of IFN-beta therapy; thereafter, serum TSH measurement only in patients with thyroid disease could be sufficient.

Adult↗
PubMed2005

Facioscapulohumeral muscular dystrophy type 1A in northwestern Tuscany: a molecular genetics-based epidemiological and genotype-phenotype study.

Facioscapulohumeral muscular dystrophy type 1A (FSHD1A) is an autosomal dominant inherited disorder characterized by early involvement of facial and scapular muscles with eventual spreading to pelvic and lower limb muscles. A high degree of clinical variability with respect to age at onset, severity, and pattern of muscle involvement, both between and within families, is present. For this reason, diagnosis of FSHD1A can be sometimes difficult and molecular diagnosis is then necessary. A clinical and molecular genetic-based epidemiological investigation has been carried out in the territory of northwestern Tuscany in central Italy to calculate the prevalence rate of FSHD1A as of March, 2004. The molecular diagnosis has been based on the detection of large deletions of variable size of kpnI repeat units on chromosome 4q35. Results have been compared to those of a previous study conducted in the same area in 1981 (in the premolecular diagnosis era). The minimum prevalence rate was 4.60 x 10(-5) inhabitants, a value four times higher compared to our previous study. No significant correlation between fragment size and clinical severity has been observed. This study confirms in an Italian population a prevalence rate of FSHD1A similar to that observed in other populations. Furthermore, it underlines the usefulness of routine adoption of the genetic testing in confirming clinical suspicion of FSHD1A as well as in correctly diagnosing atypical and otherwise misclassified cases.

Adolescent↗
PubMed2002

Gastric emptying in myotonic dystrophic patients.

BACKGROUND: Myotonic dystrophy is often associated with digestive symptoms that can precede the clinical appearance of skeletal muscle involvement. Although motility disorders may be observed in these patients at any level of the gastrointestinal tract, upper gastrointestinal symptoms have up to now usually been considered to be due to oesophageal rather than gastric dysmotility. AIMS: To evaluate: a) gastric emptying in myotonic dystrophic patients without dyspeptic symptoms, and b) relationship between gastric emptying and severity and duration of the disease. PATIENTS AND METHODS: Gastric emptying was evaluated in 11 non-dyspeptic dystrophic patients and in 22 healthy volunteers by means of computerised ultrasound scan, assessing the variation in the antral area over time after ingestion of a meal. RESULTS: The final emptying time was higher in patients than in healthy volunteers (373' +/- 35' vs 270' +/- 47'; p < 0.001). Basal and maximal post-prandial antral areas were similar in the two groups. There was a significant correlation between gastric emptying and the duration of the disease (rs = 0.62; p = 0.04). No relationship was found between gastric emptying and severity of the disease. CONCLUSIONS: Gastric emptying may be abnormally delayed in myotonic dystrophy patients, even in absence of dyspeptic symptoms. This delay is correlated with duration but not with severity of the disease. However there is no difference in either basal or maximal postprandial antral areas between myotonic dystrophy patients and healthy volunteers.

Adult↗
PubMed2001

Impaired oxidative metabolism in exercising muscle from ALS patients.

The pathogenic mechanism of selective loss of motor neurones in amyotrophic lateral sclerosis (ALS) is still poorly understood. Recently, research evidence has suggested that mitochondrial dysfunction occurs in central nervous system as well as in peripheral tissues from ALS patients. The aim of our study was to indirectly investigate in vivo oxidative metabolism of exercising muscle in a case history of patients affected by ALS. To this purpose 11 patients, 8 male and 3 female, mean age+/-SD: 52.4+/-11.1 years, performed a bicycle incremental test for the assessment of lactate production. At rest, there was increased lactate concentration in patients: 2.77+/-0.79 vs. 1.48+/-0.49 mmol/l in normal controls (normal range: 0.67-2.47 mmol/l). Analysis of lactate curve during exercise showed a lactate production increase compared to controls. Furthermore, anaerobic lactate threshold was detected at 40-50% of the predicted normal power output, anticipated with respect to both normal subjects and non-ALS chronically denervated controls with comparable motor impairment (60-70%), suggesting that mitochondrial dysfunction can occur in exercising skeletal muscle from ALS patients.

Adult↗
PubMed2001

The importance of nasal resistance in obstructive sleep apnea syndrome: a study with positional rhinomanometry.

The importance of nasal obstruction in the pathogenesis of obstructive sleep apnea syndrome (OSAS) has not yet been totally defined. Numerous studies have reported an association between nasal obstruction and OSAS, but the precise nature of this relationship remains to be clarified. This study was undertaken to evaluate the prevalence of nasal obstruction disorders in a group of OSAS patients. For this purpose, we analyzed the nasal resistance of 36 OSAS patients by performing a traditional basal anterior active rhinomanometry test (AAR) and a positional AAR, with the patient in a supine position. Seven patients had a pathologic nasal resistance in the seated position that increased further in the supine position; 9 patients had normal resistance in the seated position but a pathologic resistance in the supine position. In 20 patients, nasal resistance was normal in both positions. No statistically significant differences in the degree of apnea/hypopnea index (AHI) was found between the 20 patients with normal positional AAR and the 16 with pathologic positional AAR (p = 0.13). Moreover, no statistically significant differences in the degree of AHI was found between the 7 patients with pathologic basal and positional AAR and the 9 patients with normal basal AAR and pathologic positional AAR (p = 0.38).

Adult↗
PubMed2001

Neurophysiological evaluation of vigilance in epileptic patients on monotherapy with lamotrigine.

OBJECTIVE: Limited research has focused to date on daytime sleepiness in epileptic patients treated with either conventional or newer antiepileptic drugs. We evaluated the level of vigilance in 15 consecutive, newly diagnosed and never medicated adult epileptic patients, receiving initial monotherapy with lamotrigine (LTG). METHODS: Patients underwent the Multiple Sleep Latency Test (MSLT), visual reaction times (VRT) and Stanford Sleepiness Scale (SSS) on two separate occasions, i.e. before and 2 months after LTG treatment. A group of 15 age-matched healthy volunteers was taken as control. RESULTS: At baseline, mean sleep latencies on the MSLT were comparable in epileptic patients and in controls. In patients, 2 months after monotherapy with LTG 200 mg/day, MSLT scores did not significantly change as compared with pre-treatment values. Accordingly, subjective evaluation of vigilance by the SSS and psychomotor performance by VRT were superimposable in controls and in untreated patients, and did not change in patients after LTG treatment. CONCLUSIONS: These results suggest that in adult, newly diagnosed epileptic patients initial monotherapy with LTG does not impair vigilance.

Adult↗
PubMed2000

Abnormal levels of human mitochondrial transcription factor A in skeletal muscle in mitochondrial encephalomyopathies.

Human mitochondrial transcription factor A (hmtTFA or Tfam), a 25-kDa protein encoded by a nuclear gene located on chromosome 10q21, is involved in the control of replication and transcription of mtDNA. To better understand the complex relationship between h-mtTFA and mitochondrial function, we assessed by western blot the levels of h-mtTFA in skeletal muscle from 7 patients affected by mitochondrial diseases (MD) caused by different mtDNA mutations. We related these results to exercise lactate production as well as to the pathologic features of the underlying myopathy. h-mtTFA levels were significantly inversely related to blood lactate and the percent of RRF, borderline to cox negative fibers. Our results indicate that hmtTFA may be involved in the cascade of events which determine functional impairment of MD.

Adult↗
PubMed1996

[Reconstructive and non-reconstructive procedures in the treatment of the threatened limb].

Limb threatening ischemia is an acute step in the chronic course of peripheral arterial obstructive disease that requires some form of intervention. The objective of this study is to prove that reconstructive surgery as well as non reconstructive approaches are associated with positive results. Ours is a retrospective analysis of a ten year experience in the treatment of limb threatening ischemia. In the period 1983-93, 139 patients under-went 164 procedures. 67% of patients were diabetics. Early in the observation period the therapeutic strategy was non reconstructive, the procedure of choice was sympathectomy. Later vascular reconstructions have been recognized as the procedures of choice. In the cases not amenable to reconstructive procedures according to our group criteria (absence of a tibial vessel in continuity with a patent pedal arch), we have employed procedures such as prostanoid infusion; thrombolysis and epidural spinal cord stimulation. Reconstructive procedures have been associated with a decrease in the number of major amputations. Alternative procedures, employed in patients not amenable to reconstruction have proven worthwhile in terms of limb salvage even if this trend is limited to a short period of observation.

Arterial Occlusive Diseases↗
PubMed1994

Psychometric properties of the Brazilian Health Locus of Control Scale.

Based on social learning theory, the construct of health locus of control has proven valuable in predicting a wide variety of health-related behaviors. In studying this concept among Brazilians, the psychometric properties of the Multidimensional Health Locus of Control Scale translated into Brazilian Portuguese were investigated in a sample of 280 middle-class persons. Three types of health locus of control were verified, internal, powerful others, and chance. Further refinement of subscales is needed to improve internal consistency reliabilities.

Adult↗
PubMed1989

Computer-assisted densitometric image analysis (CADIA) for the assessment of alveolar bone density changes in furcations.

The purpose of this study was to test the applicability of computer-assisted densitometric image analysis (CADIA) for the quantitative assessment of alveolar bone density changes in furcations of multirooted teeth. In 21 patients, standardized radiographs were obtained immediately after and at 1, 6 and 12 months after periodontal flap procedures. Digitized images were obtained by means of a video-camera combined with an image processor that was linked to a computer. Quantitative information regarding density changes within windows covering furcation areas was obtained after superimposition and grey-level correction of images to be compared. 1 month after flap reflection, significantly more density loss was obtained in test furcations exposed to periodontal surgery, compared to the density changes in control furcation exposed to scaling and root planing. At 12 months, however, significantly greater increase in density was measured in test furcations compared to the 1-month results. The radiographic data were compared to the clinical parameters. In test furcations, there was a negative correlation of r = -0.52 between the GI and the loss in density at 1 month, and a negative correlation of r = -0.61 between the loss in density at 6 months and the probing attachment level at 12 months. These results indicate that CADIA may give valuable additional diagnostic information regarding alveolar bone density changes in furcations in studies on periodontal therapy.

Alveolar Process↗
PubMed1989

Color conversion of alveolar bone density changes in digital subtraction images.

This study evaluated the influence of image processing of digital subtraction images on inter- and intra-examiner agreement relative to the detection of alveolar bone change on radiographs. 62 sites on digital subtraction images from standardized radiographs from patients requiring periodontal surgery were included in this study. The images were displayed as digital subtraction images, contrast enhanced subtraction images and as color-converted digital subtraction images. The images were projected in random order, analyzed by 4 interpreters and 1 of 8 possible diagnostic decisions was noted for each one of 62 sites. 2 months after the first evaluation, the slides were re-analyzed. 3 different computations (overall agreement, specific agreement and kappa-value) were calculated. The results indicated that image processing of subtraction images using pseudocolor display of the density changes might improve the intra- and inter-examiner agreement.

Alveolar Process↗
PubMed1988

Computer-assisted densitometric image analysis in periodontal radiography. A methodological study.

A videobased computer assisted densitometric image analysis (CADIA) system to quantify alveolar bone density changes on standardized dental radiographs was tested. An algorithm was used for grey level correction of a subsequent image to the baseline image. Quantitative information regarding positive and/or negative grey level changes were obtained automatically. Comparison of the ability of CADIA to detect surgically induced bone loss with interpretation of digital subtraction images and conventional radiographic interpretation revealed that CADIA was the most sensitive of the 3 methods, followed by interpretation of digital subtraction images which was considerably more sensitive than conventional radiographic interpretation. CADIA was capable of assessing differences in alveolar bone changes due to periodontal surgery between sites exposed to ostectomy/osteoplasty and control sites and sites exposed to periodontal surgery without ostectomy/osteoplasty. Finally, CADIA was capable of assessing differences in remodeling activity over 4-6 weeks after periodontal surgery between 45 surgical sites and 45 control sites. The system offers an objective method to quantitatively follow alveolar bone density changes over time and appears to be the most sensitive of previously described radiographic interpretation techniques.

Absorptiometry, Photon↗
PubMed1988

Remodelling of interdental alveolar bone after periodontal flap procedures assessed by means of computer-assisted densitometric image analysis (CADIA).

The purposes of this study were to evaluate digitized images from standardized radiographs for quantitative changes in alveolar bone density following periodontal surgical procedures, and to correlate these changes to the changes in the clinical parameters P1I, GI, PD, AL. 14 crown-lengthening procedures for restorative purposes were performed in 13 patients and 15 modified Widman flaps were performed in 15 patients, providing 61 surgical interdental test sites and 61 matching controls. Standardized radiographs were obtained immediately post-operatively, and at 1 and 6 months postsurgically. Digitized images were obtained from the radiographs by means of a video camera linked to an image processor and a computer. Quantitative information regarding density changes within windows covering the interdental alveolar crest was obtained after superimposition and grey-level correction of images to be compared. The results indicated statistically significantly more density loss 4 to 6 weeks postsurgically at test sites treated by periodontal surgical procedures compared to corresponding controls. Significant differences in the remodelling activity between the patients exposed to crown lengthening procedures for restorative purposes and the periodontitis patients in the period 1 to 6 months postsurgically were evident. CADIA assessed differences in the tissue changes in the healing phase following periodontal surgical procedures, which were not detected by the clinical variables applied.

Alveolar Process↗