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Biomedical subjects

N Gonzalez

Publications and source records attributed to N Gonzalez.

At least 19 recordsLinked to original sources

[Ultrasonographic measurement of cervical length in twin pregnancies with preterm labor: comparison with singleton pregnancies].

OBJECTIVE: Our purpose was to assess the utility of ultrasonographic measurement of cervical length for predicting preterm delivery in pregnant women with twin pregnancy and preterm labor. PATIENTS AND METHOD: Prospective study in 192 singleton and 66 twin pregnancies with preterm labor before 34 weeks. Vaginal sonography for measurement of cervical length, and screening for fetal fibronectin in vaginal smears were performed at admission. The incidence of delivery before 34 weeks was compared with cervical length and the presence of fetal fibronectin. RESULTS: In singleton pregnancies, delivery before 34 weeks was significantly more frequent in women with a cervical length <30 mm (26.6 vs. 2.0%; P = 0.0004), or presence of fetal fibronectin (27.5 vs. 6.0%; P = 0.001). The corresponding negative predictive values (NPV) were 98% and 94%, respectively. In twin pregnancies, receiver characteristic curve analysis showed that a cervical length of 20 mm had the highest diagnostic performance in predicting preterm delivery. The corresponding NPV was 63%. In this group, delivery before 34 weeks showed no significant difference in women with a cervical length < 30 mm (43.7 vs. 38.8%), cervical length < 20 mm (52.0 vs. 36.6%, P = 0.219), or presence of fetal fibronectin (47.6 vs. 21.7%, P = 0.0705). DISCUSSION AND CONCLUSION: Ultrasonographic measurement of cervical length does not predict preterm delivery in twin pregnancies with preterm labor.

Adult↗

Changes in health related quality of life among patients treated for eating disorders.

OBJECTIVE: To prospectively investigate changes in the perception of health-related quality of life (HRQoL) among eating disorder patients after 2 years of treatment and follow-up and clinical predictors of change. METHOD: One hundred and thirty-one consecutive subjects were recruited from an eating disorder outpatient clinic. Subjects completed a generic HRQoL questionnaire, the Short Form-36 (SF-36), as well as the Eating Attitudes Test (EAT-40) to measure symptom severity and the Hospital Anxiety and Depression scale (HAD), at the first visit and after 24 months. RESULTS: Perception of HRQoL, measured by the SF-36, showed significant improvement in all but the role emotional domain after 2 years. The greatest improvements were observed in the physical function and social function domains, followed by mental health and vitality. Despite significant improvement in the summary mental health scale, scores after 2 years of treatment and follow-up were still below normative population values of women aged 18-34. Severity of eating disorder symptoms and presence of anxiety or depression at baseline significantly affected improvement in various SF-36 domains. CONCLUSIONS: Despite improvements in perception of HRQoL, eating disorder patients were more dysfunctional in all domains of the SF-36 even after 2 years of treatment and follow-up compared with women in the general population, and the severity of eating disorder symptoms was correlated with degree of dysfunction.

Adolescent↗

Transvaginal sonography of the uterine cervix prior to labor induction.

OBJECTIVES: To compare the Bishop score and transvaginal sonographic measurement of cervical length for predicting the mode of delivery following medically indicated induction of labor in term patients. METHODS: The study was conducted prospectively in 179 women who required medically indicated induction of labor. Inclusion criteria were singleton pregnancy, gestational age > 37 weeks of amenorrhea, cephalic presentation and intact fetal membranes. Cervical length was measured upon arrival in the labor room but was not considered when choosing the induction procedure. Two receiver-operating characteristic curves were plotted to calculate the best threshold value for the Bishop score and for cervical length for predicting the risk of Cesarean section. RESULTS: Fifty-three women (29.6%) had a Cesarean section. The Bishop score was not predictive of the delivery mode, although Cesarean section for failure to progress was more frequent when the Bishop score was < or = 5. Among the women with a Bishop score > 5, the cervical length was not predictive of the induction outcome. However, among the women with a Bishop score < or = 5, a cervical length < 26 mm was associated with a lower Cesarean section rate (20.6 vs. 42.9%; P = 0.006). Furthermore, the interval between the beginning of cervical ripening and delivery was shorter in the case of a short cervix (11.01 +/- 6.7 vs. 18.55 +/- 7.07 h; P < 10(-5)). CONCLUSION: The length of the uterine cervix, measured by transvaginal sonography, is a better predictor of the risk of Cesarean section than the Bishop score after induction of labor for medical reasons. In women with an unfavorable Bishop score, a cervical length of < 26 mm is associated with a lower risk of Cesarean section and a shorter duration of labor.

Cervix Uteri↗

PCR detection of specific Leishmania-DNA in patients with periodontal disease.

This study deals with the detection of Leishmania braziliensis DNA in gingival specimens from 10 individuals who all had suffered from cutaneous leishmaniasis 5-10 years prior to the examination and all had been treated with anti-leishmaniasis drugs. This preliminary study gives an interesting contribution to the oral microbiology of this disease, with the observation that inflamed periodontal tissues can serve as a factor affecting the dispersion of Leishmania parasites in individuals who had suffered from cutaneous leishmaniasis. These finding are corroborated by the results of polymerase chain reaction (PCR) which demonstrated the presence of Leishmania DNA in tissue samples of patients with periodontal diseases.

Adult↗

Cholecystokinin (CCK) gene as a possible risk factor for smoking: a replication in two independent samples.

BACKGROUND: CCK is a satiety neuropeptide. Animal studies have shown that both acute and chronic exposure to nicotine results in weight loss which is associated with an increase in hypothalamic CCK and that CCK antagonists ameliorate symptoms of nicotine withdrawal. A major detriment to smoking cessation, especially in women, is the fear of gaining weight. These observations suggested that genetic variants in the CCK gene might be a possible risk factor for smoking. METHODS: To test this hypothesis we examined the association of the C-45T promoter polymorphism in the Sp1 binding region of the CCK gene with smoking and BMI in two independent groups of subjects. RESULTS: Group 1 consisted of 191 Caucasian women participating in an obesity study. The T allele was present in 15% of women who had never smoked, 20% of ex-smokers, and 58% of current smokers, P < or = 0.0014. The T allele was present in 26.8% of ever-smokers (ex-smokers + current smokers). There was no association with BMI. Group 2 consisted of 725 parents of twins from the Minnesota Twin and Family Study of substance abuse. Logistic regression analysis showed that a diagnosis of nicotine dependence was significantly associated with the T allele (P < or = 0.002) and with gender (males > females) (P < or = 0.001), but not with BMI (P < or = 0.68). The T allele was present in 15.9% of parents who had never smoked and 24.7% of ever-smokers, very similar to the results for group 1. INTERPRETATION: These results are consistent with a role of the CCK gene as a risk factor for smoking.

Adult↗

[Transvaginal ultrasonography of the uterine cervix before induction of labor].

OBJECTIVE: To compare the Bishop score and transvaginal ultrasonographic measurement of cervical length for predicting the mode of delivery following medically indicated induction of labor in term patients. METHOD: The study was conducted prospectively among 134 women who required medically indicated induction of labor. Inclusion criteria were singleton pregnancy, gestational age > or = 37 weeks of amenorrhea, cephalic presentation, and intact fetal membranes. Transvaginal ultrasonography was performed for measurement of the cervical length but the patients were managed without considering this parameter. A receiver-operating characteristic curve was constructed to determine the best cut-of value of cervical length for predicting the risk of cesarean section following induction of labor. RESULTS: Thirty six patients (26.9%) underwent cesarean section and cervical dilatation at time of the cesarean section was < 8 cm in 25 cases. The Bishop score was not predictive for the mode of delivery in this study. In contrast, the cesarean section rate was significantly lower in women with a uterine cervix < 26 mm (18.9 vs 36.6%, p = 0.02). Moreover, the difference has concerned only the cesarean sections performed before 8 cm dilatation (9.5 vs 30.0%, p = 0.002). CONCLUSION: Cervical length measured with transvaginal ultrasonography is a better predictor than the Bishop score for predicting the risk of cesarean section following medically indicated induction of labor.

Cervix Uteri↗

The additive effect of neurotransmitter genes in pathological gambling.

As access to gambling increases there is a corresponding increase in the frequency of addiction to gambling, known as pathological gambling. Studies have shown that a number of different neurotransmitters are affected in pathological gamblers and that genetic factors play a role. Polymorphisms at 31 different genes involved in dopamine, serotonin, norepinephrine, GABA and neurotransmitters were genotyped in 139 pathological gamblers and 139 age, race, and sex-matched controls. Multivariate regression analysis was used with the presence or absence of pathological gambling as the dependent variable, and the 31 coded genes as the independent variables. Fifteen genes were included in the regression equation. The most significant were the DRD2, DRD4, DAT1, TPH, ADRA2C, NMDA1, and PS1 genes. The r(2) or fraction of the variance was less than 0.02 for most genes. Dopamine, serotonin, and norepinephrine genes contributed approximately equally to the risk for pathological gambling. These results indicate that genes influencing a range of brain functions play an additive role as risk factors for pathological gambling. Multi-gene profiles in specific individuals may be of assistance in choosing the appropriate treatment.

Adult↗

Methodological issues in designing a multisite trial of risperidone in children and adolescents with autism.

OBJECTIVE: To describe the methodological challenges and decisions made in developing a multisite, controlled study of risperidone in children and adolescents with autism. METHODS: Review the design considerations for clinical trials in children with autistic disorder accompanied by severe tantrums, aggressive and/or self-injurious behaviors. These design considerations include the definition of inclusion criteria that are relevant to clinical practice and matching study design to the goal of evaluating short- and long-term effects. Additional ethical and scientific issues concern the length of trial and sample size. RESULTS: We undertook a short-term, placebo-controlled study to evaluate the efficacy and safety of risperidone in children and adolescents with autistic disorder. This trial design was followed by an extended open-label maintenance on risperidone to confirm durability of treatment effects and to monitor safety. Finally, a placebo-controlled discontinuation study tested the need for continuous treatment. CONCLUSIONS: In the absence of standard pharmacological treatment for children with autistic disorder, a placebo-controlled study remains the most appropriate method of testing efficacy and safety. The clinical relevance of this study is enhanced by the addition of an extended maintenance phase followed by a placebo discontinuation.

Adolescent↗

Serotonin transporter gene polymorphisms in alcohol dependence.

The serotonin transporter (5-HTT) gene is a candidate gene in alcohol dependence because serotonin reuptake inhibitors (SRIs) can alleviate alcohol withdrawal. Studies of the 5-HTT gene in alcohol dependence have not resulted in a consensus. Recent studies have examined the transcriptionally active promoter polymorphism, a 44-bp deletion resulting in short (S) or long (L) alleles. In this study, 131 alcohol-dependent patients of Northern and Western European descent were genotyped. Seventy of these patients were diagnosed with alcohol dependence without comorbid disorders. Sixty-one patients were diagnosed with alcohol dependence comorbid with Tourette syndrome (alcoholic-TS). We found an excess of the S allele in alcohol-dependent patients (47%) compared with 125 ethnically matched controls (39%). A similar trend was found in 150 ethnically matched TS patients without alcohol dependence comorbidity (51%). However, the statistical significance of this trend in the data was not present after Bonferroni correction. The data presented suggests a trend toward increased frequency of the S promoter allele in alcohol-dependent, alcoholic-TS and TS patients.

Adult↗

The health-related quality of life in eating disorders.

OBJECTIVE: This study investigated the perception of health-related quality of life (HRQoL) in ambulatory patients with eating disorders in relation to the severity of eating symptomatology and psychological comorbidity. METHODS: One hundred ninety-seven study patients were consecutively recruited at the Eating Disorders Outpatient Clinic. Short Form-36 items (SF-36), a generic HRQoL questionnaire, the Eating Attitudes Test (EAT-40), and the Hospital Anxiety and Depression Scale (HAD) were used to measure different aspects of HRQoL. The results of the SF-36 were compared with the norms of the Spanish general population for women 18-34 years of age. RESULTS: Patients with eating disorders were more dysfunctional in all areas of the SF-36 compared with women in the general population. There were no differences among the eating disorder diagnostic groups. Higher scores on the EAT-40 and the HAD were associated with a perception of greater impairment on all SF-36 subscales. CONCLUSION: The evaluation of HRQoL in these patients confirms the impact of these disorders on daily life in areas not directly related to eating disorders. The SF-36 is useful for discriminating among different levels of severity of eating disorders and other psychological comorbidities of these patients.

Adolescent↗

Comparison of the role of dopamine, serotonin, and noradrenaline genes in ADHD, ODD and conduct disorder: multivariate regression analysis of 20 genes.

The present study is based on the proposal that complex disorders resulting from the effects of multiple genes are best investigated by simultaneously examining multiple candidate genes in the same group of subjects. We have examined the effect of 20 genes for dopamine, serotonin, and noradrenergic metabolism on a quantitative score for attention deficit hyperactivity disorder (ADHD) in 336 unrelated Caucasian subjects. The genotypes of each gene were assigned a score from 0 to 2, based on results from the literature or studies in an independent set of subjects (literature-based scoring), or results based on analysis of variance for the sample (optimized gene scoring). Multivariate linear regression analysis with backward elimination was used to determine which genes contributed most to the phenotype for both coding methods. For optimized gene scoring, three dopamine genes contributed to 2.3% of the variance, p = 0.052; three serotonin genes contributed to 3%, p = 0.015; and six adrenergic genes contributed to 6.9%, p = 0.0006. For all genes combined, 12 genes contributed to 11.6% of the variance, p = 0.0001. These results indicate that the adrenergic genes play a greater role in ADHD than either the dopaminergic or serotonergic genes combined. The results using literature-based gene scoring were similar. An examination of two additional comorbid phenotypes, conduct disorder and oppositional defiant disorder (ODD), indicated they shared genes with ADHD. For ODD different genotypes of the same genes were often used. These results support the value of the simultaneous examination of multiple candidate genes.

Adolescent↗

Multivariate analysis of associations of 42 genes in ADHD, ODD and conduct disorder.

In a previous study (Comings DE et al. Comparison of the role of dopamine, serotonin, and noradrenergic genes in ADHD, ODD and conduct disorder. Multivariate regression analysis of 20 genes. Clin Genet 2000: 57: 178-196) we examined the role of 20 dopamine, serotonin and norepinephrine genes in attention deficit hyperactivity disorder (ADHD), oppositional defiant disorder (ODD), and conduct disorder (CD), using a multivariate analysis of associations (MAA) technique. We have now brought the total number of genes examined to 42 by adding an additional 22 candidate genes. These results indicate that even with the inclusion of these additional genes the noradrenergic genes still played a greater role in ADHD than any other group. Six other neurotransmitter genes were included in the regression equation - cholinergic, nicotinic, alpha 4 receptor (CHNRA4), adenosine A2A receptor (ADOA2A), nitric oxide synthase (NOS3), NMDAR1, GRIN2B, and GABRB3. In contrast to ADHD and ODD, CD preferentially utilized hormone and neuropeptide genes These included CCK, CYP19 (aromatase cytochrome P-450), ESR1, and INS (p = 0.005). This is consistent with our prior studies indicating a role of the androgen receptor (AR) gene in a range of externalizing behavors. We propose that the MAA technique, by focusing on the additive effect of multiple genes and on the cummulative effect of functionally related groups of genes, provides a powerful approach to the dissection of the genetic basis of polygenic disorders.

Adolescent↗

A multivariate analysis of 59 candidate genes in personality traits: the temperament and character inventory.

Cloninger (Cloninger CR. Neurogenetic adaptive mechanisms in alcoholism. Science 1987: 236: 410-416) proposed three basic personality dimensions for temperament: novelty seeking, harm avoidance, and reward dependence. He suggested that novelty seeking primarily utilized dopamine pathways, harm avoidance utilized serotonin pathways, and reward dependence utilized norepinephrine pathways. Subsequently, one additional temperament dimension (persistence) and three character dimensions (cooperativeness, self-directedness, and self-transcendence) were added to form the temperament and character inventory (TCI). We have utilized a previously described multivariate analysis technique (Comings DE, Gade-Andavolu R, Gonzalez N et al. Comparison of the role of dopamine, serotonin, and noradrenergic genes in ADHD, ODD and conduct disorder. Multivariate regression analysis of 20 genes. Clin Genet 2000: 57: 178-196; Comings DD, Gade-Andavolu R, Gonzalez N et al. Multivariate analysis of associations of 42 genes in ADHD, ODD and conduct disorder. Clin Genet 2000: in press) to examine the relative role of 59 candidate genes in the seven TCI traits and test the hypothesis that specific personality traits were associated with specific genes. While there was some tendency for this to be true, a more important trend was the involvement of different ratios of functionally related groups of genes, and of different genotypes of the same genes, for different traits.

Adult↗

Inactivation of MS-2 phage and poliovirus in groundwater.

Since temperature affects the inactivation rate of viruses in natural water systems, the aim of this study was to determine if a temperature shift could influence the structural integrity of model viruses. When crude lysates of MS-2 phage were seeded into groundwater microcosms and incubated at 27 degrees C, complete virus inactivation took place in eight days. The temperature was then shifted to 4 degrees C. Three days after the temperature shift, a two-log increase in virus titer (reactivation) occurred. However, when purified MS-2 lysates were added to groundwater microcosms, no reactivation was obtained. No reactivation of poliovirus took place when similar microcosm experiments were done. The sedimentation coefficients of MS-2 shifted from 80S to 58S, 48S, 37S, 32S, and 18S as inactivation proceeded in groundwater and distilled water controls. Similarly, the sedimentation coefficients of polioviruses changed from 156S to 142S, 135S, 117S, 105S, 95S, and 80 S as inactivation took place. There was no correlation between % virus inactivation and % decrease in virions with intact sedimentation coefficients, as reported earlier for poliovirus inactivated by chlorine. The results presented support our hypothesis that virus inactivation proceeds gradually, involving the rearrangement and (or) loss of capsomere components that may eventually lead to the ejection of nucleic acids. The intermediate particles generated as inactivation proceeds may be in a reversibly inactivated state, and may revert back to a fully infectious state when chemical components stabilize the virus particle.

Fresh Water↗

Hepatocyte ultrastructural alterations in cocaine users.

The ultrastructural examination of liver biopsies from five male cocaine users showed hepatocytes presenting diverse alterations in rough and smooth endoplasmic reticulum, mitochondria, nuclei and microvilli. Lipid deposition and an increase of autophagic vacuoles were also observed. This study demonstrates that the hepatocyte is an important target cell for cocaine toxic effects in some patients.

Adult↗

Studies of the 48 bp repeat polymorphism of the DRD4 gene in impulsive, compulsive, addictive behaviors: Tourette syndrome, ADHD, pathological gambling, and substance abuse.

Prior studies have reported an association between the presence of the 7 repeat allele of the 48 bp repeat polymorphism of the third cytoplasmic loop of the dopamine D4 receptor gene (DRD4) and novelty seeking behaviors, attention deficit hyperactivity disorder (ADHD), Tourette syndrome (TS), pathological gambling, and substance abuse. However, other studies have failed to replicate some of these observations. To determine whether we could replicate these associations we genotyped 737 individuals from four different groups of control subjects, and 707 index subjects from four different groups of impulsive, compulsive addictive behaviors including substance abuse, pathological gambling, TS, and ADHD. Chi-square analysis of those carrying the 7 allele versus non-7 allele carriers was not significant for any of the groups using a Bonferroni corrected alpha of.0125. However, chi-square analysis of those carrying any 5 to 8 allele versus noncarriers was significant for pathological gambling (p <.0001), ADHD (p </=.01) and the total index group (p </=.0004). When the comparison included all 7 alleles the results were significant for gamblers (p <.0001), TS (p </=.003), ADHD (p </=.003), and the total group (p </=.0002). There was a significant increase in the frequency of heterozygosity versus homozygosity for all alleles for pathological gamblers (p </=.0031) and the total index group (p </=.0015), suggesting that heterosis played a role. In the substance abuse subjects a quantitative summary variable for the severity of drug dependence, based on the Addiction Severity Index, showed that the scores varied by increasing severity across the following genotypes: 44 </= heterozygotes </= 77 </= 22. Studies of other quantitative traits indicated an important role for the 2 allele and the 22, 24, and 27 genotypes. All studies indicated that the role of the DRD4 gene in impulsive, compulsive, addictive behaviors is more complex than a sole focus on the 7 versus non-7 alleles.

Alleles↗