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Biomedical subjects

S Gallina

Publications and source records attributed to S Gallina.

At least 19 recordsLinked to original sources
PubMed2006

Genome-wide scan for genes involved in bipolar affective disorder in 70 European families ascertained through a bipolar type I early-onset proband: supportive evidence for linkage at 3p14.

Preliminary studies suggested that age at onset (AAO) may help to define homogeneous bipolar affective disorder (BPAD) subtypes. This candidate symptom approach might be useful to identify vulnerability genes. Thus, the probability of detecting major disease-causing genes might be increased by focusing on families with early-onset BPAD type I probands. This study was conducted as part of the European Collaborative Study of Early Onset BPAD (France, Germany, Ireland, Scotland, Switzerland, England, Slovenia). We performed a genome-wide search with 384 microsatellite markers using non-parametric linkage analysis in 87 sib-pairs ascertained through an early-onset BPAD type I proband (AAO of 21 years or below). Non-parametric multipoint analysis suggested eight regions of linkage with P-values<0.01 (2p21, 2q14.3, 3p14, 5q33, 7q36, 10q23, 16q23 and 20p12). The 3p14 region showed the most significant linkage (genome-wide P-value estimated over 10 000 simulated replicates of 0.015 [0.01-0.02]). After genome-wide search analysis, we performed additional linkage analyses with increased marker density using markers in four regions suggestive for linkage and having an information contents lower than 75% (3p14, 10q23, 16q23 and 20p12). For these regions, the information content improved by about 10%. In chromosome 3, the non-parametric linkage score increased from 3.51 to 3.83. This study is the first to use early-onset bipolar type I probands in an attempt to increase sample homogeneity. These preliminary findings require confirmation in independent panels of families.

Adolescent↗
PubMed2006

Histamine mediates osteoclastic resorption only during the acute phase of bone loss in ovariectomized rats.

Short-term studies have shown that histamine is involved, via its H2 receptors (H2R), in the mediator network regulating trabecular bone loss in long bones of ovariectomized (OVX) rats. It is not known whether this effect of histamine persists over time or involves other skeletal sites. In this study, rats were maintained for 6 months postOVX and treated daily with saline or famotidine (10 mg kg(-1)), an H2R antagonist. At the end of the experimental period, femur trabecular bone mass was markedly decreased in OVX rats, whether or not they were treated with famotidine. In contrast, in the fourth lumbar vertebra, where bone loss starts later than in the femur, famotidine treatment attenuated the decline in trabecular bone volume, protected the trabecular architecture, maintained the thickness of the cortices and reduced the numbers of osteoclasts and tartrate-resistant acid phosphatase-positive preosteoclasts, whereas it had no influence on bone formation parameters. In vertebral bone marrow of OVX rats, the numbers of mast cells (MCs) and non-MC histamine-producing cells increased, while famotidine treatment significantly diminished both cell populations. These data show that H2R antagonism does not protect trabecular bone mass in the long term, and that short-term protection involves all bones. Histamine is involved during the early phase of strong osteoclastic resorption but not during the late phase of slower resorption, suggesting that different mediator networks control the two phases of destruction. Histamine would be part of the network mediating the early phase.

Animals↗
PubMed2003

Mechanisms of nitrate tolerance: potential roles of folate.

More than 100 years since their introduction in cardiovascular therapy, nitrates continue to be widely used in ischaemic heart disease despite incomplete knowledge of their intimate mechanism of action. Particularly, the development of a progressive attenuation of their efficacy over prolonged use (tolerance) continues to be the subject of current investigation. Newer findings point to the role of increased intracellular oxidative stress as a mechanism for tolerance and to folic acid derivatives as pharmacologic means to attenuate its development. This paper reviews nitrate mechanism of action, the history of nitrate tolerance and newer findings related to the use of folate to prevent this phenomenon.

Drug Tolerance↗
PubMed2003

Localization of the atrial natriuretic factor in the human inferior turbinates. An immunohistochemical study.

In man, the architecture of the turbinates is able to modify some of the physiochemical characteristics of the air inhaled. These modifications depend on the nervous system and on the action of neurotransmitters such as vasoactive intestinal peptide. Substance P, calcitonin gene-related peptide and other neuropeptides. As atrial natriuretic factor has been detected in the trachea and lung, the present immunohistochemical study was carried out to establish the presence and localisation of the atrial natriuretic factor on the inferior turbinates of the human being. The findings show atrial natriuretic factor to be present in the serous epithelial cells and in some cells of the tonaca propria near the sinusoids and the arteriovenous shunts and the acinar cells of the glands. Atrial natriuretic factor, therefore, could play a part in the stratification of mucus on the luminal surface and also regulate the blood flow of the capillaries, modifying, in this way, the physiochemical features of the air inhaled.

Atrial Natriuretic Factor↗
PubMed2001

Mitral valve procedure in dilated cardiomyopathy: repair or replacement?

BACKGROUND: Mitral valve (MV) procedure for dilated cardiomyopathy is becoming popular. We analyzed the indications to MV repair or replacement according to our 10-year experience. METHODS: From January 1990 to May 2000, 49 patients with dilated cardiomyopathy (12 idiopathic and 37 ischemic) underwent MV operation, 29 repair and 20 replacement. Preoperative evaluation included measurement of MV coaptation depth (CD) as a mirror of the abnormalities of MV apparatus leading to functional mitral regurgitation. RESULTS: Thirty-day mortality was 4.2% (2 patients). One-, 3-, 5-, and 10-year actuarial survival was, respectively, 90%, 87%, 78%, and 73%. The possibility of survival with at least one New York Heart Association functional class improvement was 88%, 76%, 71%, and 65%. Return of functional mitral regurgitation after MV repair was nearly inevitable; however, using a scale from 0 to 4, mean postoperative functional mitral regurgitation was 1.2+/-0.8 when preoperative MVCD was 10 mm or less and 2.5+/-0.7 when preoperative MVCD was 11 mm or higher (p < 0.05). Globally, functional results were not influenced by the strategy of treatment (MV repair or replacement). CONCLUSIONS: Mitral valve operation can give satisfying survival and good palliation of dilated cardiomyopathy. The MVCD can be helpful in the choice of the surgical strategy on the MV.

Adult↗
PubMed2001

Age-dependence of risk factors for carotid stenosis: an observational study among candidates for coronary arteriography.

In order to identify subjects at higher risk for carotid stenosis and to provide insights into mechanisms of disease development at different age-intervals, a color duplex ultrasound of extracranial arteries was performed in 624 consecutive patients (mean age 62.9+/-10.7, 483 males) undergoing coronary angiography. Significant carotid atherosclerosis (> or =50% stenosis) was documented in 87 patients (14%): the disease was moderate (50/69% stenosis) in 51 patients (8%), severe (> or =70% stenosis) in 36 patients (6%). Age (P<0.0001), smoking (P<0.0001), diabetes (P=0.0002), renal dysfunction (P=0.0119) and hypertension (P=0.0202) were independent predictors of significant carotid atherosclerosis; age (P=0.0001), smoking (P=0.0009) and diabetes (P=0.0201) were independent predictors of severe disease. Among 262 candidates for cardiac surgery, significant carotid artery disease was identified in 57 cases (2.63 Relative Risk, 95% Confidence Intervals: 1.32/5.24). Correlation and regression tree analysis demonstrated that diabetes was associated with greater severity of carotid stenosis in younger patients and hypertension in older ones. In conclusion age is the primary determinant of carotid artery disease; diabetes and smoking accelerate progression of atherosclerosis in younger patients, hypertension and smoking in older ones. Among patients undergoing coronary angiography, carotid ultrasonography should be recommended in high risk subgroups of patients.

Age Factors↗
PubMed2001

Naturally occurring mutations in the melanocortin receptor 3 gene are not associated with type 2 diabetes mellitus in French Caucasians.

Familial genetic studies of type 2 diabetes (T2DM) of different human populations, including the French Caucasians, suggested evidence for linkage of T2DM and human chromosome 20q13, a region where maps the melanocortin 3 receptor gene (MC3R). Likewise, its homologous MC4R in human obesity, MC3R gene is also a good candidate for genetic susceptibility to glucose intolerance and T2DM. We therefore undertook a molecular study to assess the role of genetic variations of this gene in a large cohort of French families with T2DM. In these patients, we identified two missense mutations in the MC3R gene: Val(81)Ile and Lys(6)Thr. These two variants, which were in complete linkage disequilibrium, were also present in nondiabetic controls. Based on association and familial linkage disequilibrium tests results, we found that these MC3R gene-coding variants were not associated with diabetes or obesity. These variants were found, however, marginally associated with insulin and glucose levels during oral glucose tolerance testing in normoglycemic subjects. Overall, the present study provides no evidence for a major role of the MC3R coding mutations underlying the genetic linkages of T2DM and the MC3R gene region on chromosome 20q13 in T2DM families from France and other geographical origins.

Adult↗
PubMed2001

Tumor necrosis factor-alpha and cardiovascular diseases.

Tumor necrosis factor (TNF)-alpha is a potent inducible cytokine with pleiotropic biological effects, now implicated as a mediator of various physiologic and pathophysiologic events including inflammation, cell survival, growth, differentiation and apoptosis. TNF-alpha functions within a complex and tightly regulated cytokine network, activating multiple signal transduction pathways and inducing or suppressing a wide variety of genes, including those encoding for other cytokines, adhesion molecules and the inducible nitric oxide synthase. TNF-alpha has recently been implicated as a transducer of cardiovascular diseases, namely coronary artery disease and congestive heart failure. This review will summarize established and newer findings on this molecule.

Cardiovascular Diseases↗
PubMed2000

Genomewide search for type 2 diabetes-susceptibility genes in French whites: evidence for a novel susceptibility locus for early-onset diabetes on chromosome 3q27-qter and independent replication of a type 2-diabetes locus on chromosome 1q21-q24.

Despite recent advances in the molecular genetics of type 2 diabetes, the majority of susceptibility genes in humans remain to be identified. We therefore conducted a 10-cM genomewide search (401 microsatellite markers) for type 2 diabetes-related traits in 637 members of 143 French pedigrees ascertained through multiple diabetic siblings, to map such genes in the white population. Nonparametric two-point and multipoint linkage analyzes-using the MAPMAKER-SIBS (MLS) and MAXIMUM-BINOMIAL-LIKELIHOOD (MLB) programs for autosomal markers and the ASPEX program for chromosome X markers-were performed with six diabetic phenotypes: diabetes and diabetes or glucose intolerance (GI), as well as with each of the two phenotypes associated with normal body weight (body-mass index<27 kg/m(2)) or early age at diagnosis (<45 years). In a second step, high-resolution genetic mapping ( approximately 2 cM) was performed in regions on chromosomes 1 and 3 loci showing the strongest linkage to diabetic traits. We found evidence for linkage with diabetes or GI diagnosed at age <45 years in 92 affected sib pairs from 55 families at the D3S1580 locus on chromosome 3q27-qter using MAPMAKER-SIBS (MLS = 4.67, P=.000004), supported by the MLB statistic (MLB-LOD=3.43, P=.00003). We also found suggestive linkage between the lean diabetic status and markers APOA2-D1S484 (MLS = 3. 04, P=.00018; MLB-LOD=2.99, P=.00010) on chromosome 1q21-q24. Several other chromosomal regions showed indication of linkage with diabetic traits, including markers on chromosome 2p21-p16, 10q26, 20p, and 20q. These results (a) showed evidence for a novel susceptibility locus for type 2 diabetes in French whites on chromosome 3q27-qter and (b) confirmed the previously reported diabetes-susceptibility locus on chromosome 1q21-q24. Saturation on both chromosomes narrowed the regions of interest down to an interval of <7 cM.

Age of Onset↗
PubMed2000

[Otoneurological findings in a case of congenital central hypoventilation syndrome (Ondine's curse)].

The authors report a case of congenital central hypoventilation syndrome (CCHS) studied from the otoneurological point of view. Emphasis is placed on the numerous alterations in the electronystagmograph and auditory potentials. The results obtained confirm the hypothesis that such patients are subject to CNS alterations, suggesting that the disease pathogenesis derives from an alteration in the mechanism of central chemoreceptor stimuli integration.

Chemoreceptor Cells↗
PubMed1999

No evidence of linkage or diabetes-associated mutations in the transcription factors BETA2/NEUROD1 and PAX4 in Type II diabetes in France.

AIMS/HYPOTHESIS: The identification of mutations in hepatocyte nuclear factors-1alpha, -4alpha, -1beta and insulin promoter factor-1 in maturity onset diabetes of the young (MODY) has highlighted the role that transcription factors may have in the development of diabetes. This result has focused molecular genetic studies of diabetes on other transcription factors expressed in the pancreatic beta cell. The basic helix-loop-helix transcription factor BETA2/NEUROD1 (gene symbol, NEUROD1) and the paired box homeodomain transcription factor PAX4 (PAX4) have an important role in islet and beta-cell development. We have examined the contribution of these transcription factors to the development of MODY and late-onset Type II (non-insulin-dependent) diabetes mellitus. METHODS: Linkage studies have been done in MODY families reported to have no mutations in the five known MODY genes and in affected sibling pairs from families with late-onset Type II diabetes. Mutation screening of the coding regions of both genes was also realised by SSCP followed by sequencing in MODY patients and in probands with late-onset Type II diabetes. RESULTS: There was no evidence of linkage with the markers for NEUROD1 and PAX4 either with MODY or late-onset Type II diabetes. Mutation screening showed single nucleotide polymorphisms, several of which resulted in amino acid substitutions: NEUROD1, Ala45Thr; PAX4, Pro321His and Pro334Ala. These amino acid sequence variants were not associated with Type II diabetes. CONCLUSION/INTERPRETATION: Our results indicate that NEUROD1 and PAX4 are not a common cause of either MODY or late-onset Type II diabetes in the French Caucasian population.

Basic Helix-Loop-Helix Proteins↗
PubMed1999

Surgical treatment of dilated cardiomyopathy with conventional techniques.

OBJECTIVE: We review our surgical experience using different conventional surgical techniques in the surgical treatment of the dilated cardiomyopathy (DCMP) in non-transplant eligible patients. METHODS: In this series we included patients who fit the following criteria: ejection fraction < 35%; end diastolic volume > or = 110 ml/m2; enlargement of the base of the heart (maximal mitral diameter > or = 22 mm/m2) with functional mitral regurgitation; mitral surgery to be performed in every case. Moreover, two groups were considered. (A) Normal or moderately impaired right ventricular function; PAP < 45 mmHg; elective or semielective surgery. (B) Severely impaired right ventricular function; PAP > or = 45 mmHg; severe organ failure; dependency on IABP and/or inotropes; need of ICU stay. From January 1990 to September 1998, 66 patients underwent isolated mitral valve surgery (n = 30); in the remaining 36 the Batista operation (n = 21) or exclusion of akinetic areas (n = 15) were associated. The etiology was ischemic in 42, idiopathic in 23 and post-valvular in one. RESULTS: When isolated mitral valve surgery was performed, early mortality in group A (n = 22) was 0, in group B (n = 8) 50%. Overall 5-year survival was 70.0 +/- 8.4. in group A 81.8 +/- 8.2, and in group B 37.5 +/- 17.1. When the Batista operation was performed, early mortality in group A (n = 13) was 23.1%, in group B (n = 8) 75%. Overall 2-year survival was 42.9 +/- 10.8 in group A 61.5 +/- 13.5 and in group B 25.0 +/- 15.3. When akinetic areas were excluded, early mortality in group A (n = 11) was 18.2% and in group B (n = 4) 100%. Overall 1-year survival was 53.3 +/- 12.9, in group A 72.7 +/- 13.4. CONCLUSION: Group A patients have better results in every cohort of patients considered. Even if patients selection seems to be the most important variable for early mortality and late survival, isolated mitral valve surgery, when feasible, provides the best early and late results.

Adult↗
PubMed1999

CoPE: a collaborative pedigree drawing environment.

SUMMARY: We developed a collaborative pedigree environment called CoPE. This environment includes a Java program for drawing pedigrees and a standardized system for pedigree storage. Unlike other existing pedigree programs, this software is particularly intended for epidemiologists in the sense that it allows customized automatic drawing of large numbers of pedigrees and remote and distributed consultation of pedigrees. AVAILABILITY: At http://www.infobiogen.fr/services/CoPE

Pedigree↗
PubMed1999

[Carotid atherosclerosis in patients with suspected coronaropathy: the relationship to traditional risk factors in the 2 vascular areas].

UNLABELLED: In order to evaluate the prevalence of carotid atherosclerosis (CA) in patients with coronary artery disease (CAD) and to identify the differential role of traditional risk factors, we analyzed data concerning 290 patients aged 61.9 +/- 10.8 years who underwent color duplex ultrasound of extracranial arteries before coronary angiography. Significant CA (stenosis > or = 50% in at least one extracranial artery) was disclosed in 44 patients (15%); significant CAD (stenosis > or = 70% at least in a major epicardial vessel) was documented in 238 patients (82%). Age and smoking were significantly associated with both CAD (respectively, p = 0.034 and p = 0.050) and CA (respectively, p = 0.000 and p = 0.000), but a stronger correlation was documented with CA (r = 0.325 vs r = 0.125 for age; r = 0.218 vs r = 0.114 for smoking). Diabetes (p = 0.031) and male gender (p = 0.016) were significantly associated with CAD, and hypertension (p = 0.029) with CA. CONCLUSIONS: Traditional risk factors play different roles in the pathogenesis of atherosclerotic disease of carotid and coronary circulation. Color duplex evaluation of the carotid arteries can be useful in high-risk patients, particularly if candidates for coronary surgery.

Age Distribution↗
PubMed1999

Rescue coronary angioplasty: a crotch for limping thrombolysis?

After failed thrombolysis, rescue coronary angioplasty is performed with the aim of restoring complete flow in the infarct-related artery. The clinical benefit of this strategy has been debated in few clinical trials during the early '90s, and high procedure-related risks, low success and early reocclusion rates seemed to outweigh the benefit of mechanical recanalization. The RESCUE trial and, more recently, data from the GUSTO angiographic substudy supported the hypothesis of a better outcome among patients aggressively managed after failed thrombolysis. Noninvasive identification of such patients must be accomplished monitoring electrocardiogram and biochemical markers of myocardial necrosis. Further improvements in the management of candidates to rescue coronary angioplasty can be obtained with a more liberal use of intra-aortic balloon pump among subjects admitted in cardiogenic shock; stents and platelet aggregation inhibitors could reduce early reocclusion, but randomized data are needed to test this hypothesis.

Angioplasty, Balloon, Coronary↗