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Biomedical subjects

F Giannelli

Publications and source records attributed to F Giannelli.

At least 145 records · Page 8Linked to original sources
PubMedDate not supplied

Gene deletions in patients with haemophilia B and anti-factor IX antibodies.

Christmas disease, or haemophilia B, is an inherited X-linked haemorrhagic disease which at present occurs in 798 known cases in the United Kingdom, corresponding to a frequency of about 1 in 30,000 males. Patients are deficient in the intrinsic clotting factor IX and are treated by replacement of this protein prepared from pooled plasma obtained from normal individuals. Occasionally treatment is complicated by the appearance of specific anti-factor IX antibodies. It seemed to us that this might be due to the absence of 'self' factor IX causing the immune system to regard the infused normal factor IX as foreign. The absence of all or part of the factor IX gene was an obvious possible reason for this, which we have now tested using our previously isolated gene probe. We have found four patients with gross gene defects.

Autoantibodies↗
PubMedDate not supplied

Mutation analysis and genetic service: the construction and use of national confidential databases of mutations and pedigrees.

The development of rapid mutation screening procedures allows the detection of mutations in large populations. This is particularly useful for inherited diseases of high mutational heterogeneity, such as haemophilia A and B, because the analysis of the very many different natural mutants clearly defines the features that are important to the function of the relevant gene and gene product. Furthermore, the characterization of the mutation in an index person from each affected family may lead to the construction of confidential databases of mutations and pedigrees that allow optimization of genetic service. We report how, motivated by the aforementioned concepts, we have planned and introduced in the UK a national strategy to optimize genetic service in both haemophilias and, in particular, we describe the principles that have guided us.

DNA Mutational Analysis↗
PubMedDate not supplied

The original calibre of the lower limbs arteries as a possible risk factor for complications of atherosclerosis: a statistical investigation in 90 subjects by echocolor-doppler.

Ninety subjects with emodynamically significant atherosclerotic disease of the lower limbs were examined. They had no history of diabetes mellitus or hypertension. Each subject underwent a color Doppler ultrasonographic study of the common iliac, superficial femoral, and popliteal arteries. In each arterial segment, diameter and blood flow velocity were measured. In evaluating the hemodynamic significance of the stenoses, we used the Windsor method. In a comparison of the calibers of the arteries significant relationship emerged in each given subject in two sexes. Males: a statistically significant difference was found only in the iliac artery, in which the calibre and Windsor indices were greater in the right as compared to the left; right: 1) There was a statistically significant relationship between mean caliber and Windsor indices, (p < 0.01); 2) there was a statistically significant correlation between mean calibre and age (p < 0.05); Left: 1) There was a statistically significant correlation between mean calibre and Windsor indices calculated at the levels of both the posterior tibialis (p < 0.05) and dorsalis pedis arteries (p < 0.01); 2) there was a statistically significant correlation between mean calibre and age (p < 0.05). Females: Student's t test for paired samples of the three arteries did not reveal a statistically significant predominance of one side over the other. With respect to the coefficients of correlation between mean calibre and Windsor indices, the results were as follows. Right: 1) There was a statistically significant correlation between mean calibre and Windsor indices calculated at the levels of both the posterior tibialis and dorsalis pedis arteries (p < 0.01); 2) there was a statistically significant correlation between age and mean calibre (p < 0.05); Left: 1) There was a statistically significant correlation between mean calibre and Windsor indices calculated at the levels of both the posterior tibialis (p < 0.05) and dorsalis pedis arteries (p < 0.01); 2) there was a statistically significant correlation between mean calibre and age (p < 0.05).

Aged↗
PubMedDate not supplied

The original caliber of the carotid artery as a possible risk factor for complications of atherosclerosis.

Seventy subjects (35 men, 35 women; age range: 65 to 86 years) with an isolated 80% extracranial atherosclerotic stenosis of a single internal carotid artery were studied. Each subject was examined by color Doppler ultrasonography. The size of the carotids and the Doppler flow velocities of both healthy and diseases internal carotid arteries were measured. The original arterial calibers were also estimated, and the Doppler flow velocity was determined at the level of and proximal to the stenotic lesion. The symptomatology and occurrence of cerebrovascular events (territory and extent) were documented in all subjects with respect to the other parameters. By comparing the sizes of the common, internal, and external carotid arteries in every patient, it was observed that their calibers were consistently proportional to one another. In both the men and the women, significant, inversely proportional relationships were observed between the original vessel caliber and the extent of stenosis in the affected internal carotid artery, as well as between the original vessel caliber and the hemodynamic significance of the stenosis. Moreover, a correlation was observed among the original arterial caliber, the presence or absence of symptoms, and the frequency and extent of cerebrovascular events, in both the men and the women. In both sexes, the functional of the compensatory circulation was found to correlate with arterial caliber (p < 0.01). The correlation between the degree of stenosis and the gravity of the symptomatology, as well as the occurrence of cerebrovascular events, was observed to increase significantly when the residual luminal area (of the stenotic artery) was less than 2.5 mm2. This relationship tended to hold more for men than for women; however, the difference was not statistically significant.

Aged↗
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The measurement of the calibers of the branches of the aortic arch: a statistical investigation of 430 living subjects using ultrasonic tomography.

Using Doppler ultrasound, we have measured the calibers of the branch arteries of the aortic arch in 430 subjects (230 men and 200 women; age range: 18 to 84 years). These included: the brachiocephalic trunk, the subclavian arteries, the common carotid arteries, the internal and external carotid arteries, and the vertebral arteries. Statistical analysis of the values obtained yielded a number of interesting results. The average caliber of the arteries of the women examined was lower than that of the men. Nonetheless, the statistical difference in the arterial diameters of the two sexes was not significant, with the exception of the left subclavian artery. In the case of this artery, its caliber was larger among the men than the women. However, this relationship was not confirmed in the right subclavian artery. The left vertebral artery was larger than the right one. This difference was statistically significant among the women (p < 0.05), but not among the men (p = ns). The right subclavian artery was larger than the left one by a statistically significant margin (p < 0.05), but the statistical significance may be accounted for by the values in the women alone (p < 0.02). When the men were considered separately, the difference between right and left did not achieve statistical significance (p = ns). There was no statistically significant correlation between arterial caliber and either height or body weight. Furthermore, the caliber of the arteries examined increased with age, but not in a statistically significant manner. The mean values of the single arteries examined were lower than those described by the principal investigators of the cadaveric studies to which we have referred. However, with three exceptions, the differences were not statistically significant. In the case of the subclavian and internal and external carotid arteries, our values were lower by a statistically significant margin.

Adolescent↗
PubMedDate not supplied

Hepatitis C virus as a lymphotropic agent: evidence and pathogenetic implications.

Hepatitis C virus has been proven to be the major cause of NANB hepatitis, cirrhosis and hepatocellular carcinoma worldwide. Based on the genome similarities between HCV and flavivirus or pestivirus, this agent has been included within the family Flaviviridae as a separate genus. Among the analogies between HCV and the other members of the same family there is the possibility of infecting blood cells. In particular, significant evidence obtained through studies performed in vivo and in vitro support the concept that HCV is not only a hepatotropic but also a lymphotropic virus. This suggests that, in addition to playing a role in inducing hepatic diseases (both of a non-tumoral and a neoplastic nature), HCV infection may also play a role in extrahepatic pathologies. The striking association observed between HCV infection and some autoimmune-lymphoproliferative disorders of either benign or neoplastic nature is consistent with this hypothesis. However, in analogy with what has been observed in the case of liver disease, the mechanisms involved in the pathogenesis of HCV-related extra-hepatic manifestations have to be more deeply analysed and clarified.

B-Lymphocytes↗
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The calibers of the common femoral, popliteal, and posterior tibialis arteries: a statistical investigation in 100 healthy subjects by color Doppler ultrasonography.

One hundred healthy subjects (50 men, 50 women; age range: 18 to 90 years) with no history of occlusive arterial disease of the lower extremities were examined. In each, the principal arteries of the lower extremities were measured by Doppler ultrasound. The difference between the dimensions of the arteries of the right with those of the left was generally not significant, although those of the right were consistently larger. The only exceptions were the common femoral arteries in both sexes and the posterior tibialis arteries in the men, where there was a statistically significant predominance of the right. As compared to those of the females, the arterial calibers of the male subjects were significantly larger (p < 0.01) for all the arteries examined. In both sexes, there was a statistically significant direct relationship between vessel caliber and age. There was no correlation between arterial dimension and body index.

Adolescent↗
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The anatomical variables of the sapheno-popliteal junction visualization by radiological and echographic examinations.

Increasing interest on the short saphenous vein has been induced by its employment as autologus graft in arterial surgery and for being held responsible for the onset and development of varicose veins of the lower limbs and postoperative recurrence. These two clinical conditions require a more precise assessment of the short saphenous anatomy and its variables previously described in literature. A verify of the anatomical variations of the sapheno-popliteal junction and of the short saphenous outlet in 528 not randomized limbs was performed in separate groups by the following methods: High Resolution Echography, preoperative ascending Phlebography, preoperative Digital Phlebography, intraoperative Selective Phlebography. A high number of anatomical variations was found (29.8%) and the conclusion was that modest differences between published data by other Authors and the results of this study were found. The ideal diagnostic approach for these anatomical variations is the intraoperative Selective Phlebography in cases systematically selected by preoperative High Resolution Echography.

Humans↗
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The blood-flow velocity analysis as a possible method for arterial calibre discovery. A statistical investigation in 108 human subjects by color-Doppler method.

Using Echocolordoppler, we have examined 108 subjects with stenosis of the Internal Carotid Artery (ICA). For each subject, age, sex, body weight, height, systolic and diastolic arterial pressure, as well as measures of original caliber of ICA, residual lumen and maximal systolic velocity (MSV) at the stenosis were recorded. In both sexes there was a highly significant correlation (p < 0.001) between MSV, percentage of stenosis, and residual lumen, while there was no correlation between MSV and arterial pressure, which could have modified interpretation of data. Linear regression analysis was performed to calculate total vessel caliber, whenever not directly measurable, from MSV and residual lumen.

Aged↗
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The inner diameter of human intracranial vertebral artery by color Doppler method.

In 50 healthy subjects the internal diameter of the intracranial vertebral artery were measured by echocolor doppler method. The diameter of left vertebral a. was greater than that of the right in most subjects (58%); the mean left/right difference was statistically significant (p < 0.05). Analyzing men and women separately, the difference remained significant only in women (p < 0.05). A significant correlation was found between vertebral a. diameter and sex (p < 0.01). The vertebral a. diameter had a tendency to increase with age, that reached significance only for the left vertebral one. No significant correlation was found between body surface area and vertebral a. diameter.

Adolescent↗
PubMedDate not supplied

Collateral circulation in occlusion of lower limbs arteries: an anatomical study and statistical research in 35 old subjects.

The collateral circles formed following lower limbs arterial occlusion and their hemodynamic function have been described; 35 subjects (23 men and 12 women; age range 65 to 80), with symptomatic lower limbs obstructive arteriopathy (Fontaine's stage II) following occlusion of vessels downstream the subrenal aorta have been studied by means of Contrast Angiography and Color Doppler Echography of the vascular district including the terminal aorta and the lower limbs arteries. The hemodynamic significance of the collateral circles was assessed by calculating the Windsor index. In this population, the collateral circles for each level of obstruction were explored. Occlusion of the terminal abdominal aorta: the collateral circle was mainly established through the inferior mesenteric and ischiatic arteries and through the lumbar, ilio-lumbar and gluteal arteries; occlusion of the iliac tract: the collateral circulation was established through the spermatic or ovaric artery and through the funicular, external pudendal and middle sacral arteries; occlusion of the ilio-femoral tract: the collateral circulation was formed by the internal and external pudendal arteries and by the ilio-lumbar, obturating, gluteal and circumflex iliac arteries; occlusion of first tract of the superficial femoral artery: collateral circulation was established through the deep femoral artery and through the perforating arteries; occlusion of the terminal tract of the superficial femoral artery: collateral circulation was formed by the articular branches of the same artery originating proximal to the occlusion and through branches of the deep femoral artery; occlusion of the superficial and deep femoral arteries at their origin: collateral circulation was established through the ischiatic artery (directly and, indirectly, through the perforating arteries), and through the tegumental arteries. The hemodynamic significance, as measured by Windsor index was higher the more proximal was the occlusion, in accord with the lower caliber and/or number of vessels involved in the collateral circles.

Aged↗
PubMedDate not supplied

Internal diameters of human femoral blood vessels in 50 healthy subjects using color Doppler ultrasonography.

50 healthy subjects (25 men and 25 women; age range: 18 to 80 years) have been examined. The internal calibers of the common femoral artery, of the superficial femoral artery, of the common femoral vein, and of the superficial femoral vein have been measured in selected locations using Color Doppler Ultrasonography. The difference in vessel caliber between men and women was statistically significant (p < 0.01). There was no significant difference in left versus right vessel calibers for all the four vessels studied. In the same subject, vessel caliber was directly proportional in the left compared to the right side (p < 0.01). Both in the left and in the right side, arterial and venous calibers of the same subject in the same side were directly proportional (p < 0.01). The relationship between the calibers of the four vessels under study and age, height, and body surface area were not statistically significant.

Adolescent↗