scholarly journals Investigation of glucocorticoid receptor polymorphisms in relation to metabolic parameters in Addison's disease

2013 ◽  
Vol 168 (3) ◽  
pp. 403-412 ◽  
Author(s):  
I L Ross ◽  
N S Levitt ◽  
L Van der Merwe ◽  
D A Schatz ◽  
G Johannsson ◽  
...  
Keyword(s):  
Glucocorticoid Receptor ◽  
Addison’S Disease ◽  
Metabolic Parameters ◽  
Addison's Disease ◽  
Wild Type ◽  
Control Subjects ◽  
Glucocorticoid Receptor Polymorphisms ◽  
And Gender ◽  
Length Analysis ◽  
And Control

BackgroundUncertainty exists whether glucocorticoid receptor (GCR) polymorphisms play a role in steroid-related side effects in Addison's disease (AD) patients on hydrocortisone. The polymorphismsBcll and N363S appear to increase sensitivity to cortisol, while the ER22/23EK polymorphism has been associated with resistance to cortisol.MethodOne hundred and forty seven AD patients, and gender, and ethnicity-matched controls were recruited in South Africa. Three polymorphisms in the GCR were studied, using PCR followed by restriction fragment length analysis. Associations with BMI, lipids, glucose and inflammatory markers were investigated.ResultsIn both patients and controls, theBcll polymorphism occurred more frequently in whites than in other ethnic groups studied but was not associated with any of the metabolic parameters tested. The ER22/23EK polymorphism was associated with an increased BMI in both patients (29.4 vs 24.7 kg/m2) and control subjects (26.3 vs 24.2 kg/m2). The ER22/23EK polymorphism was also associated with lower LDL cholesterol in control subjects (3.46 vs 3.93 mmol/l) and in patients (3.52 vs 4.10 mmol/l). N363S was associated with increased BMI in controls 29.9 kg/m2vs wild type 24.8 kg/m2. Median hydrocortisone doses were greater in patients heterozygous for either ER22/23EK 30.0 mg or N363S 25.0 mg polymorphisms than in wild type patients 20.0 mg (both comparisons).ConclusionAlterations in lipids, BMI and hydrocortisone dose were associated with two polymorphisms. Further larger studies are warranted to corroborate these findings.

Clinical Evaluation of the Modified Faine Criteria in Patients Admitted with Suspected Leptospirosis to the Territorial Hospital, New Caledonia, 2018 to 2019

2022 ◽  
Author(s):  
Hélène Guibreteau ◽  
Arnaud Tarantola ◽  
Cyrille Goarant ◽  
Shirley Gervolino ◽  
Ann-Claire Gourinat ◽  
...  
Keyword(s):  
New Caledonia ◽  
Multivariable Analysis ◽  
Model Performance ◽  
Area Under The Curve ◽  
Tertiary Hospital ◽  
Control Subjects ◽  
Biological Part ◽  
And Gender ◽  
And Control ◽  
Pcr Test

Leptospirosis is endemic in New Caledonia. Clinical diagnosis is often difficult and its evolution can be fatal. Leptospirosis requires specific management before biological confirmation. Modified Faine criteria (Faine Score) have been suggested to diagnose leptospirosis on epidemiological (parts A and B) and biological (part C) criteria. The main objective of our study was to assess the relevance of the epidemiological–clinical modified Faine score, parts A and B (MF A + B), in patients with suspected leptospirosis in New Caledonia. A monocentric case–control study was conducted in suspect patients for whom a Leptospira polymerase chain reaction (PCR) test was done within the first 7 days of signs onset at the tertiary hospital from January 1, 2018 to January 4, 2019. Cases and control subjects were matched 1:2 in the gender and age categories. Bivariate, and then multivariable, analyses studied the association between the MF A + B score and a positive Leptospira PCR test, adjusted on the variables retained. In all, 35 cases and 70 control subjects matched for age and gender were analyzed. Multivariable analysis by logistic regression found a significant association between an MF A + B score taken from the categories “possible leptospirosis” (score, 20–25) and “presumed leptospirosis” (score, > 26), and the case or control subject status (P < 0.0001). Model performance was high, with an area under the curve value of 99.27%, 93.55% sensitivity, and 96.36% specificity, which classified subjects correctly in 95.35% of cases. Our study suggests using the MF A + B score to identify possible cases of leptospirosis and initiate antibiotic therapy before biological confirmation in New Caledonia. This score should be evaluated in areas where more differential diagnoses exist and where PCR is not widely available.

scholarly journals An Early Developmental Marker of Deficit versus Nondeficit Schizophrenia

2019 ◽  
Vol 45 (6) ◽  
pp. 1331-1335
Author(s):  
Brian Kirkpatrick ◽  
Özlem Gürbüz Oflezer ◽  
Mehtap Delice Arslan ◽  
Gary Hack ◽  
Emilio Fernandez-Egea
Keyword(s):  
Negative Symptoms ◽  
Signs And Symptoms ◽  
Developmental Differences ◽  
Significant Group ◽  
Course Of Illness ◽  
Control Subjects ◽  
Deficit Schizophrenia ◽  
And Gender ◽  
And Control ◽  
Early Developmental

Abstract People with schizophrenia and primary negative symptoms (deficit schizophrenia) differ from those without such symptoms (nondeficit schizophrenia) on risk factors, course of illness, other signs and symptoms, treatment response, and biological correlates. These differences suggest that the 2 groups may also have developmental differences. A previous study found that people with schizophrenia have a wider palate than comparison subjects. We tested the hypothesis that those with deficit and nondeficit schizophrenia would differ on palate width. A dentist made blinded measurements of palate shape in deficit (N = 21) and nondeficit (N = 25) patients and control subjects (N = 127), matched for age and gender. The deficit group had significantly wider palates than either nondeficit or control subjects (respective means [standard deviation] 37.5 [3.9], 33.7 [3.1], and 34.0 [2.9]; P < .001 for both deficit/nondeficit and deficit/control comparisons, respective effect sizes 1.08 and 1.01). The nondeficit/control difference in width was not significant (P = .83), and there were no significant group differences in length or depth. The power to detect a nondeficit/control difference in width equal in size to that of the deficit/control difference in width (3.5 mm) was 0.99 and 0.92 for a 2.0-mm difference. This difference in palate width may reflect a divergence in development between deficit and nondeficit patients that occurs by the early second trimester and is consistent with the hypothesis that deficit schizophrenia is a separate disease within the syndrome of schizophrenia.

Attention deficit hyperactivity disorder (ADHD): gender- and age-related differences in neurocognition

2008 ◽  
Vol 39 (8) ◽  
pp. 1337-1345 ◽  
Author(s):  
S. Bálint ◽  
P. Czobor ◽  
S. Komlósi ◽  
Á. Mészáros ◽  
V. Simon ◽  
...  
Keyword(s):  
Attention Deficit Hyperactivity Disorder ◽  
Effect Size ◽  
Adult Adhd ◽  
Healthy Controls ◽  
Age And Gender ◽  
Hyperactivity Disorder ◽  
Control Subjects ◽  
The Difference ◽  
And Gender ◽  
And Control

BackgroundDespite the growing recognition that the clinical symptom characteristics associated with attention deficit hyperactivity disorder (ADHD) persist into adulthood in a high proportion of subjects, little is known about the persistence of neurocognitive deficits in ADHD. The objective was twofold: (1) to conduct a meta-analysis of neuropsychological studies to characterize attentional performance in subjects with adult ADHD by examining differences in ADHD versus normal control subjects; and (2) to investigate whether these differences vary as a function of age and gender.MethodTwenty-five neuropsychological studies comparing subjects with adult ADHD and healthy controls were evaluated. Statistical effect size was determined to characterize the difference between ADHD and control subjects. Meta-regression analysis was applied to investigate whether the difference between ADHD and control subjects varied as a function of age and gender across studies.ResultsTests measuring focused and sustained attention yielded an effect size with medium to large magnitude whereas tests of simple attention resulted in a small to medium effect size in terms of poorer attention functioning of ADHD subjects versus controls. On some of the measures (e.g. Stroop interference), a lower level of attention functioning in the ADHD group versus the controls was associated with male gender.ConclusionsAdult ADHD subjects display significantly poorer functioning versus healthy controls on complex but not on simple tasks of attention, and the degree of impairment varies with gender, with males displaying a higher level of impairment.

FC13-10 - Frequency of prolonged qtc in children and adolescents hospitalized for psychiatric disorders: a nested case-control study

2011 ◽  
Vol 26 (S2) ◽  
pp. 1891-1891
Author(s):  
P. Manu ◽  
V. Figen ◽  
J. Harris ◽  
J.M. Kane ◽  
C.U. Correll
Keyword(s):  
Children And Adolescents ◽  
Psychiatric Disorders ◽  
Antipsychotic Drugs ◽  
Case Control Study ◽  
Qtc Prolongation ◽  
Control Subjects ◽  
And Gender ◽  
Nested Case Control ◽  
And Control ◽  
Control Study

BackgroundThe rate-corrected Q-T interval (QTc) prolongation is a risk factor for sudden death and may be produced by antipsychotic drugs.ObjectiveTo determined the frequency and psychopharmacological correlates of baseline prolongation of QTc in a large pediatric cohort.MethodsThe QTc was measured on the electrocardiograms obtained on 811 children and adolescents (404 males and 407 females, mean age: 15.5 ± 2.4 years) consecutively evaluated in the admissions unit of a psychiatric hospital. Each patient with QTc > 440 msec was age- and gender-matched with 5 patients with QTc< 420 msec. The psychiatric diagnoses and psychotropic treatment of patients with prolonged QTc and control subjects were compared in univariate and logistic analyses.ResultsQTc duration was > 440 msec (mean 454 ± 10 msec, range 442–481 msec) in 16 patients (1.97%; 95% confidence interval (CI): 1.17%–3.25%). The 80 control subjects had a mean QTc of 391 ± 21 msec. The groups were similar with regard to the proportion of patients on antipsychotics (43.8% vs. 40.8%, p = 0.78) and chlorpromazine equivalents (165.5 ± 109.7 mg vs. 167.6 ± 217.8 mg, p = 0.98). Logistic regression identified schizophrenia as the only psychiatric predictor of baseline QTc prolongation (odds-ratio: 6.17, 95% CI: 1.24–30.69, p = 0.042).ConclusionsIn a large cohort of children and adolescents with psychiatric disorders, baseline QTc prolongation was infrequent and, at most, of moderate severity. The findings argue against performing electrocardiograms prior to the initiation of antipsychotics in all patients from this age group.

Reducing Disruption of Circadian Temperature Rhythm Following Surgery

2001 ◽  
Vol 2 (4) ◽  
pp. 257-266 ◽  
Author(s):  
Lynne Farr ◽  
Catherine Todero ◽  
Lonna Boen
Keyword(s):  
Continuous Monitoring ◽  
Maxillofacial Surgery ◽  
Recovery Process ◽  
Age And Gender ◽  
Control Subjects ◽  
Temperature Rhythm ◽  
Before And After ◽  
Temperature Rhythms ◽  
And Gender ◽  
And Control

Temperature and other circadian rhythms are disrupted following surgery and other traumatic events. During recovery, coordination between temperature rhythms and other rhythmic physiologic processes is reduced. Studies of animals and humans have shown that return of synchrony is not immediate, but that it is important in the recovery process. The purpose of this study was to test a combination of cues that have been shown to adjust the timing of circadian temperature rhythm. The combined cues consisted of timed ingestion of caffeine and protein foods and adjustment of the sleep/wake cycle. The intervention was tested in 26 age-and gender-matched maxillofacial surgery patients. Patients were randomly assigned to control or experimental groups. Circadian temperature rhythm was measured by continuous monitoring with axillary probes and miniature recorders before and after surgery. Following surgery, both experimental and control subjects displayed 24-hour circadian temperature rhythms; however, the peak-to-trough difference was decreased more following surgery in the control subjects than in the subjects who had prepared for surgery by practicing the intervention. Control subjects also had less day-to-day stability in the phase of their rhythms following surgery. These results suggest that the intervention reduced circadian disruption following surgery and provides a way for patients to prepare themselves to resist rhythm changes.

scholarly journals Association between CSF1 and CSF1R Polymorphisms and Parkinson’s Disease in Taiwan

2019 ◽  
Vol 8 (10) ◽  
pp. 1529 ◽  
Author(s):  
Kuo-Hsuan Chang ◽  
Yih-Ru Wu ◽  
Yi-Chun Chen ◽  
Hsiu-Chuan Wu ◽  
Chiung-Mei Chen
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Age At Onset ◽  
Genetic Associations ◽  
Age And Gender ◽  
Control Subjects ◽  
Important Pathway ◽  
And Gender ◽  
And Control ◽  
First Time

Background: CSF1/CSF1R neuroinflammatory signaling is emerging as an important pathway involved in the pathogenesis of Parkinson’s disease (PD). However, the genetic associations between CSF1/CSF1R and PD have not yet been explored. Methods: We investigated the effects of two functional genetic variants, including CSF1 rs1058885 and CSF1R rs10079250 in a cohort including 502 Taiwanese patients with PD and 511 age- and gender-matched healthy controls. Results: The CSF1 rs1058885 TT genotype was less frequent in PD patients compared with control subjects (odds ratio (OR) = 0.63, 95% confidence interval (CI): 0.43–0.92, p = 0.015). The PD patients also had a lower frequency of the CSF1 rs1058885 T allele compared with the control subjects (OR = 0.80, 95% CI: 0.67–0.96, p = 0.014). No statistically significant differences in allelic and genotypic frequencies of CSF1R rs10079250 between the PD and control subjects were found, even after stratification by age at onset and gender. Conclusion: This study reports a genetic association between CSF1 and PD for the first time.

scholarly journals Anthropometrics and metabolic syndrome in relation to glucocorticoid receptor polymorphisms in corticosteroid users

2020 ◽  
Author(s):  
Mesut Savas ◽  
Vincent L. Wester ◽  
Bibian van der Voorn ◽  
Anand M. Iyer ◽  
Jan W. Koper ◽  
...  
Keyword(s):  
Metabolic Syndrome ◽  
Glucocorticoid Receptor ◽  
Odds Ratio ◽  
Population Based ◽  
Inhaled Corticosteroid ◽  
Wild Type ◽  
Adult Participants ◽  
Glucocorticoid Receptor Polymorphisms ◽  
Relationship Of ◽  
The Relationship

Introduction: Corticosteroids are widely prescribed and their use has been linked to adverse cardiometabolic outcomes. A pivotal role in the action of corticosteroids is reserved for the glucocorticoid receptor (GR). Here, we assessed the relationship of glucocorticoid (GC) sensitivity altering GR polymorphisms with anthropometrics and metabolic syndrome (MetS) in corticosteroid users. Methods: In this population-based cohort study (Lifelines) we genotyped 10,621 adult participants for GR hypersensitive (1/2 copies BclI and/or N363S) and GR resistant (1/2 copies ER22/23EK and/or 9β) variants. We assessed the relationship between functional GR polymorphisms with body mass index (BMI), waist circumference (WC), and MetS in users of corticosteroids. Results: Overall corticosteroid use was associated with a significantly higher BMI and WC in GR wild-type users (BMI: +0.63 kg/m2 [0.09-1.16], P=.022; WC: +2.03 cm [0.61-3.44], P=.005) and GR hypersensitive (BMI: mean difference +0.66 kg/m2 [95% CI, 0.31-1.01); WC: +2.06 cm (1.13-2.98), both P<.001), but not in GR resistant users. Significantly higher WC in GR resistant carriers was observed only for inhaled corticosteroid users. With respect to MetS, again only GR wild-type users (OR 1.44 [1.07-1.94], P=.017) and GR hypersensitives (odds ratio (OR) 1.23 [95% CI, 1.00-1.50], P=.046) were more likely to have MetS; even more pronounced in only inhaled corticosteroid users (GR wild-type users, OR 1.64 [1.06-2.55], P=.027; GR hypersensitive users, OR 1.43 [1.08-1.91], P=.013). Conclusions: Polymorphisms associated with increased GR sensitivity and wild-type GR are related to increased BMI, WC and an increased MetS presence in corticosteroid users, especially of the inhaled types, when compared to nonusers. The adverse effects of corticosteroid use are less pronounced in users harboring GR resistant polymorphisms.

C950T and C1181G Osteoprotegerin Gene Polymorphisms In Myeloma Bone Disease

Blood ◽  
2013 ◽  
Vol 122 (21) ◽  
pp. 3128-3128
Author(s):  
Mehmet Sonmez ◽  
Nazli Kazaz ◽  
Burcu Yucel ◽  
Murat Topbas ◽  
Fahri Ucar
Keyword(s):  
Bone Disease ◽  
Haplotype Frequency ◽  
Control Group ◽  
Bone Lesions ◽  
Wild Type ◽  
Myeloma Bone Disease ◽  
Control Subjects ◽  
Polymorphic Allele ◽  
Exon 1 ◽  
And Control

Abstract Bone disease is one of the hallmarks of multiple myeloma (MM). The role of osteoprotegerin (OPG) in the RANK/RANKL/OPG signaling system is well defined in the myeloma bone disease. Polymorphisms of the TNFRSF11B gene encoding OPG have been studied in various bone diseases. However, relationship between the levels of OPG and development of bone lesions regardless of RANKL is yet unknown. In this study, the effects of OPG gene polymorphism on the development of bone lesions in MM were investigated. 52 MM patients, admitted to Karadeniz Technical University, Medical Faculty, Department of Internal Medicine, Division of Hematology between March 2011 and March 2012, were included into the study. Pathologic fracture and/or destructive bone lesions were confirmed in 36 MM patients using X-ray, computed tomography (CT), or magnetic resonance imaging (MRI). No bone lesions were noted in 16 patients. The control group consisted of 20 age and gender matched volunteers. Exon 1 of OPG gene was sequenced using DNA samples obtained from peripheral blood samples of 52 MM patients and 20 healthy control subjects. OPG gene C950T and C1181G polymorphisms were identified in 45 (33 with bone lesions) MM patients and in 16 control subjects. Polymorphic allele 1181G was higher in MM patients with bone lesions compared to MM patients without bone lesions and control group (χ2=8.629, p=0.013). Other polymorphic allele 950T was also overrepresented (73%; p=0.042) in MM patients with bone lesions compared to MM patients without bone lesions and the control group. The most frequent genotype observed in patients with myeloma bone lesions was 950 TT homozygous variant (56%, p=0.08) followed by 1181 CC homozygous wild type with 50% frequency (p=0.09). The frequency of 950 CT heterozygous genotype was higher in MM patients without bone lesions (50%, p=0.604). 1181 GG genotype showed higher frequency in MM patients with bone lesions compared to patients without bone lesions and control group (χ2=3.853, p=0.145). Of the combined haplotypes, 950 TT/1181 GG haplotype frequency is higher in patients with myeloma bone lesions (36%) compared to MM patients without bone lesions (13%) and controls (15%) (χ2=4.77, p=0.09). The frequency of TT/GG combined haplotype carriers in bone disease patients is higher than of those who do not have either polymorphic homozygous alleles (CT/CC and CC/CC haplotypes) (χ2=6.057, p=0.048). Additionally, 950 CC/1181CC wild type haplotype frequency was reasonably low in patients with myeloma bone lesions (8.3%, p=0.240). This is the first study searching for the relationship between OPG gene variants C950T (promoter), C1181G (exon 1) and myeloma bone disease. It was concluded that the presence of polymorphic 1181 G/950 T alleles and 950 TT/1181 GG genotypes may play a role in the development of bone disease. Disclosures: No relevant conflicts of interest to declare.

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