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D Giorgi

Publications and source records attributed to D Giorgi.

At least 37 records · Page 2Linked to original sources

The olfactory receptor gene repertoire in primates and mouse: evidence for reduction of the functional fraction in primates.

Olfactory receptors (ORs) located in the cell membrane of olfactory sensory neurons of the nasal epithelium are responsible for odor detection by binding specific odorant ligands. Primates are thought to have a reduced sense of smell (microsmatic) with respect to other mammals such as dogs or rodents. We have previously demonstrated that over 70% of the human OR genes have become nonfunctional pseudogenes, leading us to hypothesize that the reduced sense of smell could correlate with the loss of functional genes. To extend these results, we sampled the OR gene repertoire of 10 primate species, from prosimian lemur to human, in addition to mouse. About 221 previously unidentified primate sequences and 33 mouse sequences were analyzed. These sequences encode ORs distributed in seven families and 56 subfamilies. Analysis showed a high fraction ( approximately 50% on average) of pseudogenes in hominoids. In contrast, only approximately 27% of OR genes are pseudogenes in Old World monkeys, and New World monkeys are almost free of pseudogenes. The prosimian branch seems to have evolved differently from the other primates and has approximately 37% pseudogene content. No pseudogenes were found in mouse. With the exception of New World monkeys, we demonstrate that primates have a high fraction of OR pseudogenes compared with mouse. We hypothesize that under relaxed selective constraints, primates would have progressively accumulated pseudogenes with the highest level seen in hominoids. The fraction of pseudogenes in the OR gene repertoire could parallel the evolution of the olfactory sensory function.

Animals↗

Ultrasonic myocardial textural parameters and midwall left ventricular mechanics in essential arterial hypertension.

BACKGROUND: The evaluation of the systolic left ventricular performance in hypertensive patients presents some problems related to left ventricular hypertrophy (LVH) which alters the ventricular geometry. The videodensitometric textural ultrasonic analysis of hypertensive myocardium has provided evidence of impairment in the cyclic variation of the mean gray level. This might be considered as an index of intrinsic myocardial function. OBJECTIVES: The aim of the present study was to analyse the connection between the midwall fractional shortening and end-systolic stress. The ultrasonic textural parameters in hypertensive patients, arranged in different groups according to the level of LVH and relative wall thickness, were also evaluated. METHODS: A group of age-matched (58 +/- 7 years) male essential hypertensive patients (n = 70) were compared to a group of normotensive and healthy subjects used as controls (n = 32). All subjects performed a conventional 2D-Doppler echocardiography to analyse the left ventricular performance. A quantitative analysis of the echocardiographic digitised imaging was also carried out with the help of a calibrated digitization system in order to calculate the septum and the posterior wall textural parameters. The myocardial mean gray level was calculated to derive the cyclic variation index (CVI). RESULTS: When subjected to a higher meridional end-systolic stress, the hypertensive patients showed a significantly lower midwall fractional shortening than the control patients. The CVI was also significantly lower in the hypertensives group, both for the septum wall (-16.3 +/- 22.8 vs34.7 +/- 15.3%; P < 0.001) and the posterior wall (-5.2 +/- 23.6 vs 38.2 +/- 15.4%; P < 0.001). A significant correlation was found between the midwall fractional shortening (MFS) and the textural parameters, and between these two variables and the end-systolic stress. CONCLUSION: The CVI was found to be a highly sensitive parameter in the identification of abnormal echodensity in essential hypertension. The CVI was significantly lower in patients with concentric hypertrophy in comparison with other left ventricular geometric models. This parameter could be considered as an index of the intrinsic myocardial function, being related, in essential hypertension, to midwall fractional shortening and to end-systolic stress. Journal of Human Hypertension (2000) 14, 9-16.

Blood Pressure↗

Physiological cyclic variation of the myocardial integrated backscatter signal in athlete's heart.

BACKGROUND: Left ventricular hypertrophy which realizes in athlete's heart could create some problems of acoustic reflection related to the increase of myocytic and not-myocytic elements of the heart. The aim of the present study was to analyze the ultrasonic backscatter myocardial indexes both as peak end-diastolic signal intensity and as its cardiac-cyclic variation in athlete's heart, compared to healthy sedentary controls. METHODS: Two groups of ten subjects each, all males of mean age (31.6+/-3.5), and of comparable weight and height were analyzed: group (A) comprised ten cyclists of good professional level and group (C) included ten healthy subjects acting as controls. A 2D-color Doppler echocardiography with a digital echograph Agilent Technologies (AT) Sonos 5500 was carried out on all subjects in the study for the conventional analysis of the left ventricular mass and function. The ultrasonic myocardial integrated backscatter signal (IBS) was analyzed with an "Acoustic Densitometry" module implemented on an AT echograph. The signal was also sampled with a R.O.I. placed at interventricular septum and at posterior left ventricular wall level. The systo-diastolic variation of the backscatter was also considered as Cyclic Variation Index (CVIibs). RESULTS: The left ventricular mass was significantly higher in athletes in comparison with controls (LVMbs: A: 154.5+/-18.7; C: 101.4+/-12.4; p<0.001). The end diastolic IBS signal did not show significant statistical differences between the two groups. The CVIibs both at septum (A: 30.5+/-5.3; C: 27.2+/-7.3; p<0.002) and posterior wall level (A: 43.7+/-9.1; C: 40.7+/-9.1; p<0.001) though was comparable in both groups. CONCLUSION: The conclusions reached in the present study confirmed the physiology of the left ventricular hypertrophy of the athlete's heart evaluated with an ultrasonic integrated backscatter tissue characterization, in particular through the cyclic variation of integrated backscatter myocardial signal. This finding is probably the expression of a preserved intramural myocardial function in the athlete's heart despite the increase of left ventricular mass induced by physical training.

Adult↗

Ultrasonic myocardial textural analysis in subclinical hypothyroidism.

BACKGROUND: In subclinical hypothyroidism (sHT), a condition in which impaired hormone synthesis is compensated by thyroid-stimulating hormone (TSH) hypersecretion, previous studies have suggested the presence of disturbances in left ventricular (LV) function. OBJECTIVES: Our goal was to investigate LV structure and function through the combined use of conventional Doppler echocardiography and ultrasonic videodensitometry. METHODS: We studied 16 patients with sHT (aged 32+/-12 [mean +/- SD] years) who had raised TSH levels (> 3.6 mIU/L) but normal levels of free thyroid hormones (free thyroxine [FT(4)] and free triiodothyro-nine [FT(3)]), and 16 carefully age- and sex-matched euthyroid subjects. Transmitral flow Doppler analysis and quantitative analysis of the echocardiographic digitized images were performed in all study subjects. Textural parameters of the septum and posterior wall were obtained as mean gray levels, which were then used to calculate the cyclic variation index (CVI), that is, the percent change in mean gray levels between diastole and systole. RESULTS: Patients with sHT had a significantly higher LV mass index (92 +/- 16 versus 76 +/- 16 g.m(2), P<.01) and isovolumic relaxation time corrected for heart rate (IVRTc) (2.9 +/- 0.6 versus 2.5 +/- 0.6, P<.04) than did controls. On videodensitometry, patients had lower CVIs both for the septum (-5% +/- 22% versus 33% +/- 9%, P<.0001) and the posterior wall (10% +/- 26% versus 49% +/- 18%, P<.0001). IVRTc discriminated only 25% of the patients from the controls, whereas CVI analysis correctly identified 85% of the patients with sHT (P<.002). Furthermore, CVI values were found to be significantly related to serum FT(4) and FT(3) concentrations in a direct fashion, and to serum TSH levels in an inverse fashion. CONCLUSIONS: Subclinical hypothyroidism is associated with changes in videodensitometric myocardial structure. These changes, which are not accurately detected by conventional or Doppler echocardiography, are quantitatively related to loss of thyroid function and could represent an early sign of myocardial damage in hypothyroidism.

Adult↗

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Journal Article↗

The potential prognostic value of ultrasonic characterization (videodensitometry) of myocardial tissue in essential arterial hypertension.

BACKGROUND: Left ventricular hypertrophy (LVH) and the geometric shape of the left ventricle are well-established important risk factors for cardiovascular morbidity and mortality in the hypertensive population. Videodensitometry is an alternate echocardiographic approach to the study of myocardial structural and functional alterations in essential hypertension. OBJECTIVES: To analyze the behavior of the ultrasonic videodensitometric parameter for various subgroups of a hypertensive population; first according to the severity of LVH (group A, without LVH; group B, with mild-to-moderate LVH; and group C, with severe LVH) and second according to geometric adaptation of left ventricle to pressure-volume overload of essential hypertension (group NG, normal geometry; group CR, concentric remodeling; group CH, concentric hypertrophy; and group EH, eccentric hypertrophy). METHODS: For 70 male, essential hypertensive patients and 32 normotensive healthy subjects matched for age (58 +/- 7 years) and sex as controls (group N) we performed ambulatory blood pressure measurements for the evaluation of 24 h mean systolic and diastolic blood pressures, conventional two-dimensional Doppler echocardiography to evaluate left ventricular performance and left ventricular mass index, and digitization of left ventricular parasternal long-axis echocardiographic images. For regions of interest selected within the septum and the posterior wall, the mean gray levels were calculated at end-systole and end-diastole. The resulting values were used to estimate the percentage cyclic variation index (CVI). RESULTS: The results according to left ventricular mass index were CVI for septum group N 34.7 + 16.3%; group A - 0.18 +/- 16%, group B - 13 +/- 19%, and group C - 22 +/- 12% (P < 0.001); and CVI of posterior wall, group N 38.2 +/- 15.4%, group A -0.75 +/- 16%, group B -16 +/- 16% and group C -16 +/- 13% (P< 0.001). According to left ventricular geometry CVI for septum were group NG 0.6 +/- 24%, group CR 1.9 +/- 17%; group CH - 25.4 +/- 18%, and group EH -17.1 +/- 20% (P < 0.01). CVI of posterior wall were group NH -5.8 + 24%, group CR 6.4 +/- 23%, group CH -29 +/- 20%, group EH -20 +/- 21 (P < 0.01). CONCLUSIONS: Our results demonstrate that subjects with high left ventricular masses and those with concentric hypertrophy, which have the worst prognostic impacts, have the most significant changes in CVI. Furthermore, videodensitometric findings are quite different even among the subgroups with mild-to-moderate left ventricular hypertrophy and eccentric hypertrophy. Therefore this videodensitometric approach could provide some useful information for better definition of cardiovascular risk in hypertension.

Blood Pressure↗

Characterization of nonfunctional V1R-like pheromone receptor sequences in human.

The vomeronasal organ (VNO) or Jacobson's organ is responsible in terrestrial vertebrates for the sensory perception of pheromones, chemicals that elicit stereotyped behaviors among individuals of the same species. Pheromone-induced behaviors and a functional VNO have been described in a number of mammals, but the existence of this sensory system in human is still debated. Recently, two nonhomologous gene families, V1R and V2R, encoding pheromone receptors have been identified in rat. These receptors belong to the seven-transmembrane domain G-protein-coupled receptor superfamily. We sought to characterize V1R-like genes in the human genome. We have identified seven different human sequences by PCR and library screening with rodent sequences. These human sequences exhibit characteristic features of V1R receptors and show 52%-59% of amino acid sequence identity with the rat sequences. Using PCR on a monochromosomal somatic cell hybrid panel and/or FISH, we demonstrate that these V1R-like sequences are distributed on chromosomes 7, 16, 20, 13, 14, 15, 21, and 22 and possibly on additional chromosomes. One sequence hybridizes to pericentromeric locations on all the acrocentric chromosomes (13, 14, 15, 21, and 22). All of the seven V1R-like sequences analyzed show interrupted reading frames, indicating that they represent nonfunctional pseudogenes. The preponderence of pseudogenes among human V1R sequences and the striking anatomical differences between rodent and human VNO raise the possibility that humans may have lost the V1R/VNO-mediated sensory functions of rodents.

Amino Acid Sequence↗

[Radiologic analysis of interval cancers in the screening program called Florence Woman Project].

PURPOSE: The aim of the present study was to provide data on interval cancer incidence after the first round of the screening program in the city of Florence, and to provide and discuss the results of the review of previous screening mammograms. MATERIAL AND METHODS: The screening program "Progetto Firenze Donna" involves all women age 50 to 69 years resident in the city of Florence. In the interval from the end of the first and the start of the second screening round 51 interval cancers were identified, of which 41 were available for radiological review. Films were reviewed by expert screening radiologists, not involved in the program and blinded to the final diagnosis, according to the review criteria recommended by the UK Guidelines for radiologists (blind and informed review). RESULTS: Sensitivity (screening errors/total) was different among blind reviewers (reader A = 7.3%, reader B = 14.6%), as well as specificity which shows an inverse pattern (reader A = 98.4%, reader B = 97.6%). Informed review classified 5 cases as "screening error" (12.2%), 11 as "minimal sign" (26.8%) and 25 as "occult" (61%). Informed review classified a higher proportion of cases as "minimal sign" (minimal abnormalities are better perceived with the knowledge of the site and the pattern of subsequent cancer). DISCUSSION AND CONCLUSIONS: Analysis of interval cancers is fundamental for the quality control of a screening program. According to this experience, informed review tends to overestimate "minimal signs" in the cancer site and should not be used (or "minimal signs" should be anyhow assumed as negative). Identification of interval cases as "minimal signs" may be influenced by individual variability. Standard criteria should be adopted to identify and review/classify interval cancers to allow comparisons between different programs.

Aged↗

A genomic region encompassing a cluster of olfactory receptor genes and a myosin light chain kinase (MYLK) gene is duplicated on human chromosome regions 3q13-q21 and 3p13.

The olfactory receptor (OR) multigene family is widely distributed in the human genome. We characterize here a new cluster of four OR genes (HGMW-approved symbols OR7E20P, OR7E6P, OR7E21P, and OR7E22P) on human chromosome 3p13 that is contained in an approximately 250-kb region. This region has been physically mapped, and a 106-kb portion containing the OR genes has been sequenced. All the OR sequences are disrupted by frameshifts and stop codons and appear to have arisen through local duplications. A myosin light chain kinase pseudogene (HGMW-approved symbol MYLKP) lies at one end of the OR gene cluster. Sequences spanning the entire region are also present at 3q13-q21, the site of the functional MYLK gene. This region duplicated locally before the divergence of primates, and the two paralogous copies were later separated to sites on either side of the centromere. This study increases our understanding of the evolution of the human genome. The 3p13 cluster is the first example of a tandem array of OR pseudogenes, and duplications of such clusters may account for the accumulation of a large number of pseudogenes in the human genome.

Amino Acid Sequence↗

Optic neuropathy in systemic lupus erythematosus and antiphospholipid syndrome (APS): clinical features, pathogenesis, review of the literature and proposed ophthalmological criteria for APS diagnosis.

Optic neuropathy is a well-known ocular manifestation occurring in patients with systemic lupus erythematosus (SLE), and it remains one of the major causes of blindness in these patients. We report data from six SLE patients with optic neuropathy, one of whom was considered to have antiphospholipid syndrome (APS). This patient had monolateral optic neuropathy, whereas the other five SLE patients had bilateral optic nerve disease. We believe that the monolateral occurrence of optic neuropathy in our patient can be considered as a 'focal' neurological disease due to a thrombotic event involving the ciliary vasculature. Conversely, bilateral optic nerve damage in SLE could be considered to be a 'general' neurological disease due to different immunological mechanisms, such as vasculitis. Additionally, the literature on SLE patients affected by optic neuropathy is reviewed to evaluate the major clinical features, particularly neurological features. In reviewing the literature, it appears that bilateral optic neuropathy in SLE occurs more frequently than monolateral optic neuropathy, and the main neurological manifestation seen in these patients is transverse myelitis, particularly in SLE patients with bilateral optic nerve disease. Finally, we propose a clinico-ophthalmological spectrum of APS and outline the ocular clinical manifestations that can be considered as diagnostic for the syndrome.

Adult↗

Retinopathy in systemic lupus erythematosus: pathogenesis and approach to therapy.

The starting point in the assessment of SLE-retinopathy is the clinical examination by ophthalmoscopy and retinal fluorescein angiography. It is noted that two major clinical forms of retinopathy may occur in SLE; (1st) the "classic" type characterized by cotton-wool spots with or without intraretinal hemorrhages, and (2nd) the thrombosis of larger retinal blood vessels, such as central or branch arteries/veins. However, a well-defined pathogenetic classification of SLE-retinopathy has still not been proposed as yet. A practical classification based on the pathogenesis could be of aid to commence a more appropriate treatment. The aims of this paper are; (1st) to focus on the most implicate mechanisms of retinal vascular disease in SLE, (2nd) to mention the most common features associated with the different forms of retinopathy, and finally (3rd) to assess the prevalence of retinopathy in SLE. In our opinion, it seems that two major types of retinopathy exist in SLE: firstly, the Hughes' retinopathy due to antiphospholipid-induced retinal vascular thrombosis, for which anticoagulation is the best treatment, and secondly, the "classic" retinopathy in which at least two major causes could be associated; vasculitis and accelerated atherosclerosis. In patients with "classic" retinopathy, the most appropriate treatment still needs to be established. If "classic" retinopathy is due to vasculitis, immunosuppressive drugs should be administered, while if atherosclerosis play an etiologic role, a prophylaxis with antioxidants or the use of low-dose aspirin should be assessed.

Adolescent↗

Can insulin action induce myocardial texture alterations in essential hypertension?

The prevalence of hyperinsulinemia/insulin resistance in hypertensive individuals, as well as the effects of insulin on myocytic and fibroblastic growth, are well known in both epidemiologic and animal models. To check whether there are any links between ultrasonic myocardial texture parameters and insulin level in essential hypertensives, we compared 18 essential hypertensive men (Group 1, H) with 18 age- and gender-matched healthy controls (Group 2, C) (age, 57 +/- 10 years). For all study subjects we performed ambulatory blood pressure monitoring (ABPM); conventional 2-D Doppler echocardiography for the assessment of the left ventricular mass index (LVMi) and function; quantitative analysis of digitized echocardiographic images for evaluation of cyclic variation (CVI) of mean gray level (MGL) at the septum and posterior wall levels; and 75-g 3-h oral glucose tolerance test (OGTT) for analysis of area under glycemic curve (AUGC, g/min/dL) and insulinemic curve (AUIC, mU/min/mL), as well as serum glucose and insulin peaks. Both the daily mean blood pressure (H: 109 +/- 4.6 v C: 94.6 +/- 4.6, P < .0001) and LVMi (adjusted for body surface) (H: 133 +/- 24 v C: 97 +/- 21 g/m2, P < .0001) were significantly higher in hypertensives. Values for AUIC were significantly higher in hypertensives (10.37 +/- 5.53 v 6.33 +/- 5.28), P < .032); CVI was also significantly higher in group C, for both septum (C: 40.2 +/- 16.9 v H: 15.9 +/- 18.1, P < .0001) and posterior wall (C: 44.5 +/- 19.6 v H: 20 +/- 17.5; P < .0001). There was a significant inverse correlation between AUIC and CVI for both septum (r: -0.57, P < .001) and posterior wall (r: -0.50, P < .002). The significantly higher impairment of myocardial ultrasonic texture and the higher level of the AUIC insulinemia in hypertensives, as well as the significant inverse relationship between CVI and hyperinsulinemia, are our major findings. Hyperinsulinemia/insulin resistance could cause an altered collagen/muscular ratio, which could potentially explain, at least in part, the CVI alterations detected in hypertensive patients.

Adolescent↗

Recent trends of in situ carcinoma of the breast and mammographic screening in the Florence area, Italy.

OBJECTIVES: The study analyzes the relationship between the incidence trends of breast carcinoma in situ (CIS) and the spread of mammography screening in the Italian area of Florence (about 608,000 female residents). SETTING: In this area, since the seventies, a mammographic screening by personal invitation was performed by the Center for Cancer Prevention (CSPO) in some rural municipalities. After 1990, the municipality of Florence and other municipalities were involved in the screening. METHODS: The study included all cases of female breast carcinomas in situ reported to the population-based Tuscany Cancer Registry between 1985 and 1995. On the basis of information from the CSPO files, the cases were categorized into: "screen-detected", "self-referrals", and "other" (CSPO cases diagnosed in symptomatic women or at periodic check up after breast cancer plus hospital cases). RESULTS: Overall, 332 women with breast carcinoma in situ (CIS) were registered between 1985 and 1995. The CIS incidence rate increased from 2.39/100,000 women in 1985-87 to 6.22/100,000 in 1994-95. The largest increase was observed for the ductal carcinoma in situ (2.9 times) and in women aged 50-69 years (3.8 times). In this age group, cases diagnosed at the screening by personal invitation accounted for 69% of the rise in CIS incidence. The proportion of mastectomy lowered from 41% before 1990 to 25% after 1990. CONCLUSION: In the Florence area the CIS incidence trend, showing a marked increase beginning in 1991, was mainly explained by the spread of the mammographic screening by personal invitation. The period during which mammographic screening became widespread coincided with a change in the treatment policy of breast cancer, with a high proportion of breast conserving surgery also for CIS. Therefore, the rise in CIS incidence rates correlated with the widespread use of mammographic screening did not substantially increase the number of women treated by mastectomy.

Adult↗

Dissociation between albuminuria and insulinaemia in hypertensive and atherosclerotic men.

To better understand the links between circulating insulin and albuminuria in essential hypertension, the plasma insulin response t alpha a 75 gram glucose load and albuminuria were evaluated in 53 glucose-tolerant essential hypertensives and 12 controls. To allow any direct pressure-independent albuminuric effect of insulin to emerge more clearly, those same parameters were also evaluated in 20 glucose-tolerant normotensive patients with stable atherosclerotic peripheral vascular disease, a condition in which hyperinsulinaemia could be anticipated on the basis of previous reports. In response to glucose ingestion, hyperinsulinaemia was evident in both hypertensive and normotensive atherosclerotic patients, while, on average, urine albumin was elevated only in the former. When plasma insulin, systolic and diastolic blood pressure (BP) (by 24-h ambulatory BP monitoring), plasma glucose, triglycerides and body mass index were entered into a multiple regression analysis, only systolic BP appeared to exert an independent effect on urine albumin. Post-glucose load plasma insulin did not differ between hypertensive patients with (n = 14) and without (n = 39) microalbuminuria (albuminuria > 20 micrograms/min). In further analyses, insulin and systolic BP values were divided in quartiles: albuminuria did not differ across insulin quartiles, while it was significantly higher in the top (n = 21) vs the bottom (n = 21) systolic BP quartile. Thus, hyperinsulinaemia and microalbuminuria were unrelated variables in these hypertensive and atherosclerotic patients. Blood pressure, particularly systolic, emerged as a primary predictor of urinary albumin excretion, although the importance of this parameter needs to be proved prospectively.

Adult↗

Ultrasonic videodensitometric analysis of myocardium in end-stage renal disease treated with haemodialysis.

BACKGROUND: The aim of this study was to investigate videodensitometric parameters of the myocardium, in dialysis patients, who represent a complex pathophysiological model of pressure volume overload, and in essential hypertensive patients with the same level of left ventricular mass. METHODS: We compared a group of male dialysis patients (D) with two groups: hypertensive patients (H) with comparable left ventricular mass and normotensive healthy subjects as controls (C). The groups (n=15 each) were age- (53 +/- 9 years) and gender-matched. Quantitative analysis of echocardiographic digitalized imaging was performed to calculate the mean grey level (MGL) and cyclic variation index (CVI). RESULTS: The haemodialysis patients had a significantly lower CVI compared with hypertensives and controls both for septum (D): -2.5 +/- 17.4% vs (H); 11.8 +/- 17% vs (C); 43.2 +/- 15.4% (P<0.001) and for posterior wall (D): -10.1 +/- 261% vs (H); 14.2 +/- 14.7% vs (C); 46.6 +/- 17.2% (P<0.001). A significant inverse relationship was found between intact parathyroid hormone (iPTH) and CVI. CONCLUSION: Abnormalities of two-dimensional echocardiographic grey level distribution are present in both haemodialysis patients and hypertensive patients, but seem unrelated to the degree of echocardiographic hypertrophy. These videodensitometric myocardial alterations are significantly higher in dialysis patients than in hypertensive patients with the same extent of left ventricular hypertrophy. The iPTH level may play a role in the development of the ultrasonic myocardial alterations, which probably represent an early stage of uraemic cardiomyopathy.

Case-Control Studies↗