scholarly journals Polymorphic Variants of BH4 Pathway Genes and Isolated Hypospadias Risk

2020 ◽  
Vol 30 (3) ◽  
Author(s):  
Kamil Konrad Hozyasz ◽  
Adrianna Mostowska ◽  
Andrzej Kowal ◽  
Pawel P Jagodzinski
Keyword(s):  
Matched Control ◽  
Interactive Effect ◽  
Sexual Life ◽  
Control Group ◽  
Corrective Surgery ◽  
Genotypic Association ◽  
Polymorphic Variants ◽  
Genetic And Environmental Factors ◽  
Rate Limiting ◽  
Single Snps

Background: Hypospadias (HS) is one of the most common congenital malformations. Complications of corrective surgery in HS correlate with patients’ opinions on their voiding ability and sexual life as adults. Etiology of HS involves both genetic and environmental factors. GCH1, which belongs to recently identified urothelial genes influencing voiding behavior, encodes rate-limiting enzyme catalyzing the production of tetrahydrobiopterin (BH4). A requirement for BH4, a metabolite structurally related to folic acid and riboflavin, in embryonic development was reported. Objectives: The aim of the present study was to investigate the association of selected polymorphic variants of BH4 pathway genes with hypospadias. Methods: We performed an analysis of 6 SNPs of GCH1, PAH and AGMO-DGKB loci in a group of 166 boys with isolated hypospadias and a properly matched control group. Results: There was no evidence for either allelic or genotypic association with the risk of HS for the tested nucleotide variants (rs12425434, rs7485331, rs17128050, rs8004018, rs17128077, rs2191349). The lack of association with single SNPs was confirmed at the haplotype level. The exhaustive multifactor dimensionality reduction (MDR) analysis revealed no significant interactive effect of polymorphic variants of BH4 pathway genes on HS susceptibility. Conclusions: The presented results did not support an association between SNPs of GCH1 and PAH and the risk of HS.

scholarly journals The effects of sleep deprivation on the processing of emotional facial expressions in young adults with and without ADHD

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Ami Cohen ◽  
Kfir Asraf ◽  
Ivgeny Saveliev ◽  
Orrie Dan ◽  
Iris Haimov
Keyword(s):  
Young Adults ◽  
Sleep Deprivation ◽  
Facial Expressions ◽  
Interactive Effect ◽  
Control Group ◽  
Experimental Session ◽  
Poor Sleep ◽  
Adhd Group ◽  
Emotional Facial Expressions ◽  
Oddball Task

AbstractThe ability to recognize emotions from facial expressions is essential to the development of complex social cognition behaviors, and impairments in this ability are associated with poor social competence. This study aimed to examine the effects of sleep deprivation on the processing of emotional facial expressions and nonfacial stimuli in young adults with and without attention-deficit/hyperactivity disorder (ADHD). Thirty-five men (mean age 25.4) with (n = 19) and without (n = 16) ADHD participated in the study. During the five days preceding the experimental session, the participants were required to sleep at least seven hours per night (23:00/24:00–7:00/9:00) and their sleep was monitored via actigraphy. On the morning of the experimental session, the participants completed a 4-stimulus visual oddball task combining facial and nonfacial stimuli, and repeated it after 25 h of sustained wakefulness. At baseline, both study groups had poorer performance in response to facial rather than non-facial target stimuli on all indices of the oddball task, with no differences between the groups. Following sleep deprivation, rates of omission errors, commission errors and reaction time variability increased significantly in the ADHD group but not in the control group. Time and target type (face/non-face) did not have an interactive effect on any indices of the oddball task. Young adults with ADHD are more sensitive to the negative effects of sleep deprivation on attentional processes, including those related to the processing of emotional facial expressions. As poor sleep and excessive daytime sleepiness are common in individuals with ADHD, it is feasible that poor sleep quality and quantity play an important role in cognitive functioning deficits, including the processing of emotional facial expressions that are associated with ADHD.

scholarly journals Fitness Matters as We Age: A Celebration of the VA Gerofit Program

2020 ◽  
Vol 4 (Supplement_1) ◽  
pp. 771-771
Author(s):  
Miriam Morey ◽  
Cathy Lee
Keyword(s):  
Matched Control ◽  
Exercise Adherence ◽  
Health Promotion Program ◽  
Control Group ◽  
Health Administration ◽  
Physical And Mental Health ◽  
Program Outcomes ◽  
Matched Control Group ◽  
Supervised Exercise ◽  
The Impact

Abstract In recognition of the GSA’s 75th Anniversary “Why Age Matters” we celebrate the 7th anniversary of the Gerofit dissemination initiative. Gerofit is an exercise and health promotion program for older Veterans that has been declared a Veterans Health Administration (VA) “Best Practice” and been disseminated to 17 VA’s across the country. Over 7000 Veterans have participated in Gerofit initiated programs and have reported robust outcomes including improved quality of life, physical and mental health, and high levels of satisfaction with the programs. For this symposium, we focus on newly acquired program outcomes that emphasize the importance of fitness as we age. The first paper compares hospitalization and emergency room visits between individuals participating in Gerofit for 12 months compared to a matched control group. The second paper describes four-year trajectories of physical performance to highlight the impact of becoming fit over expected normative trajectories. The third paper examines outcomes of a home-based geriatric walking clinic. The fourth paper describes the impact of exercise adherence on chronic pain. The fifth paper describes changes in medication utilization compared to a matched control group following 12-months of supervised exercise. These papers highlight the importance of fitness as a contributor to overall health during the aging process and celebrates that fitness matters, no matter when you start!

scholarly journals Circulating miRNA-202-3p is a potential novel biomarker for diagnosis of type 1 gastric neuroendocrine neoplasms

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Dou Dou ◽  
Xiao-kou Li ◽  
Qi-sheng Xia ◽  
Ying-ying Chen ◽  
Yuan-liang Li ◽  
...  
Keyword(s):  
Clinical Characteristics ◽  
Matched Control ◽  
Future Research ◽  
Control Group ◽  
Neuroendocrine Neoplasms ◽  
Diagnostic Biomarkers ◽  
Standard Curve ◽  
Qrt Pcr ◽  
Age And Sex

Abstract Background Currently, there are no circulating diagnostic biomarkers for gastric neuroendocrine neoplasms (g-NENs). In previous studies, we found that miRNA-202-3p is overexpressed in the tumour tissue of type 1 g-NEN. We speculated that miRNA-202-3p is also likely to be highly expressed in circulating blood. Methods A total of 27 patients with type 1 g-NEN and 27 age- and sex-matched control participants were enrolled in this study. The miRNA-202-3p levels in serum obtained from the participants were measured by qRT‐PCR. The expression level of miRNA-202-3p in the samples was calculated by comparison with a standard curve. Results The clinical characteristics of the patients were similar to those of the patient samples in previous reports. Expression of miRNA-202-3p was significantly higher in the patient group (3.84 × 107 copies/nl) than in the control group (0.635 × 107 copies/nl). The area under the ROC curve (AUC) was 0.878 (95% CI: 0.788–0.968), and the optimal cut-off point was approximately 1.12 × 107 copies/nl. The sensitivity and specificity were 88.9% and 77.8%, respectively. Conclusion This study suggests that miRNA-202-3p is potentially useful as a biomarker of type 1 g-NEN; further investigation and verification should be performed in future research.

scholarly journals Manganese activates NLRP3 inflammasome signaling and propagates exosomal release of ASC in microglial cells

2019 ◽  
Vol 12 (563) ◽  
pp. eaat9900 ◽  
Author(s):  
Souvarish Sarkar ◽  
Dharmin Rokad ◽  
Emir Malovic ◽  
Jie Luo ◽  
Dilshan S. Harischandra ◽  
...  
Keyword(s):  
Nlrp3 Inflammasome ◽  
Matched Control ◽  
Adaptor Protein ◽  
Microglial Cells ◽  
Control Group ◽  
Spare Capacity ◽  
Pathological Conditions ◽  
Mitochondrial Defects ◽  
Atp Generation ◽  
Cell To Cell Transfer

Chronic, sustained inflammation underlies many pathological conditions, including neurodegenerative diseases. Divalent manganese (Mn2+) exposure can stimulate neurotoxicity by increasing inflammation. In this study, we examined whether Mn2+activates the multiprotein NLRP3 inflammasome complex to promote neuroinflammation. Exposing activated mouse microglial cells to Mn2+substantially augmented NLRP3 abundance, caspase-1 cleavage, and maturation of the inflammatory cytokine interleukin-1β (IL-1β). Exposure of mice to Mn2+had similar effects in brain microglial cells. Furthermore, Mn2+impaired mitochondrial ATP generation, basal respiratory rate, and spare capacity in microglial cells. These data suggest that Mn-induced mitochondrial defects drove the inflammasome signal amplification. We found that Mn induced cell-to-cell transfer of the inflammasome adaptor protein ASC in exosomes. Furthermore, primed microglial cells exposed to exosomes from Mn-treated mice released more IL-1β than did cells exposed to exosomes from control-treated animals. We also observed that welders exposed to manganese-containing fumes had plasma exosomes that contained more ASC than did those from a matched control group. Together, these results suggest that the divalent metal manganese acts as a key amplifier of NLRP3 inflammasome signaling and exosomal ASC release.

Survival of BRCA1 breast and ovarian cancer patients: a population-based study from southern Sweden.

1998 ◽  
Vol 16 (2) ◽  
pp. 397-404 ◽  
Author(s):  
O T Jóhannsson ◽  
J Ranstam ◽  
A Borg ◽  
H Olsson
Keyword(s):  
Ovarian Cancer ◽  
Cancer Patients ◽  
Matched Control ◽  
Brca1 Mutation ◽  
Population Based ◽  
Control Group ◽  
Breast And Ovarian Cancer ◽  
Population Based Study ◽  
Matched Control Group ◽  
Group Survival

PURPOSE Recent studies indicate that BRCA1 breast and ovarian tumors may have an advantageous survival. In this population-based study, the survival of carriers of a mutated BRCA1 gene was investigated. PATIENTS AND METHODS The survival of 71 BRCA1-associated cancer patients (33 breast cancer, seven breast and ovarian cancer, and 31 ovarian cancer patients from 21 families with BRCA1 germline mutations) diagnosed after 1958 was compared with that of a population-based comparison group that consisted of all other invasive breast (n = 28,281) and ovarian (n = 7,011) cancers diagnosed during 1958 to 1995, as well as an age- and stage-matched control group. RESULTS No apparent survival advantage was found for BRCA1-associated breast cancers upon direct comparison. After adjustment for age and calendar year of diagnosis, survival was equal to or worse than that of the comparison group (hazards ratio [HR], 1.5; 95% confidence interval [CI], 0.9 to 2.4). In comparison with an age- and stage-matched control group, survival again appeared equal or worse (HR, 1.5; 95% CI, 0.6 to 3.7). For BRCA1-associated ovarian cancers, an initial survival advantage was noted that disappeared with time. Due to this time dependency, multivariate analyses cannot adequately be analyzed. Compared with the age- and stage-matched control group, survival again appeared equal or worse (HR, 1.2; 95% CI, 0.5 to 2.8). CONCLUSION The results suggest that survival for carriers of a BRCA1 mutation may be similar, or worse than, that for breast and ovarian cancer in general. This finding is in accordance with the adverse histopathologic features observed in BRCA1 tumors and underlines the need for surveillance in families that carry a BRCA1 mutation.

scholarly journals Effects of Nutrient Intake Timing on Post-Exercise Glycogen Accumulation and its Related Signaling Pathways in Mouse Skeletal Muscle

Nutrients ◽  
2019 ◽  
Vol 11 (11) ◽  
pp. 2555 ◽  
Author(s):  
Takahashi ◽  
Matsunaga ◽  
Banjo ◽  
Takahashi ◽  
Sato ◽  
...  
Keyword(s):  
Skeletal Muscle ◽  
Muscle Glycogen ◽  
Nutrient Intake ◽  
Matched Control ◽  
Control Group ◽  
Glycogen Depletion ◽  
Post Exercise ◽  
Glycogen Accumulation ◽  
Matched Control Group ◽  
Significant Difference

We investigated the effects of nutrient intake timing on glycogen accumulation and its related signals in skeletal muscle after an exercise that did not induce large glycogen depletion. Male ICR mice ran on a treadmill at 25 m/min for 60 min under a fed condition. Mice were orally administered a solution containing 1.2 mg/g carbohydrate and 0.4 mg/g protein or water either immediately (early nutrient, EN) or 180 min (late nutrient, LN) after the exercise. Tissues were harvested at 30 min after the oral administration. No significant difference in blood glucose or plasma insulin concentrations was found between the EN and LN groups. The plantaris muscle glycogen concentration was significantly (p < 0.05) higher in the EN group—but not in the LN group—compared to the respective time-matched control group. Akt Ser473 phosphorylation was significantly higher in the EN group than in the time-matched control group (p < 0.01), while LN had no effect. Positive main effects of time were found for the phosphorylations in Akt substrate of 160 kDa (AS160) Thr642 (p < 0.05), 5'-AMP-activated protein kinase (AMPK) Thr172 (p < 0.01), and acetyl-CoA carboxylase Ser79 (p < 0.01); however, no effect of nutrient intake was found for these. We showed that delayed nutrient intake could not increase muscle glycogen after endurance exercise which did not induce large glycogen depletion. The results also suggest that post-exercise muscle glycogen accumulation after nutrient intake might be partly influenced by Akt activation. Meanwhile, increased AS160 and AMPK activation by post-exercise fasting might not lead to glycogen accumulation.

Eye-Movement Patterns of Readers With Down Syndrome During Sentence-Processing: An Exploratory Study

2010 ◽  
Vol 115 (3) ◽  
pp. 193-206 ◽  
Author(s):  
Cheryl Frenck-Mestre ◽  
Nathalie Zardan ◽  
Annie Colas ◽  
Alain Ghio
Keyword(s):  
Down Syndrome ◽  
Eye Movements ◽  
Sentence Processing ◽  
Exploratory Study ◽  
Matched Control ◽  
Reading Level ◽  
Control Group ◽  
Future Studies ◽  
Complex Sentences ◽  
Simple Sentences

Abstract Eye movements were examined to determine how readers with Down syndrome process sentences online. Participants were 9 individuals with Down syndrome ranging in reading level from Grades 1 to 3 and a reading-level-matched control group. For syntactically simple sentences, the pattern of reading times was similar for the two groups, with longer reading times found at sentence end. This “wrap-up” effect was also found in the first reading of more complex sentences for the control group, whereas it only emerged later for the readers with Down syndrome. Our results provide evidence that eye movements can be used to investigate reading in individuals with Down syndrome and underline the need for future studies.

Enlargement of cerebrospinal fluid spaces in long-term benzodiazepine abusers

1987 ◽  
Vol 17 (4) ◽  
pp. 869-873 ◽  
Author(s):  
C. Schmauss ◽  
J.-C. Krieg
Keyword(s):  
Low Dose ◽  
Matched Control ◽  
Control Group ◽  
High Dose ◽  
Withdrawal Therapy ◽  
The Mean ◽  
Dose Dependent ◽  
Dose Dependent Effect ◽  
Age And Sex

SynopsisIn 17 benzodiazepine (BDZ) dependent in-patients a CT scan was performed before initiation of withdrawal therapy. The evaluation of the ventricular to brain ratio (VBR) by standardized and computerized measurements revealed significantly higher mean VBRs for both high-and low-dose BDZ-dependent patients compared to the mean VBR of an age- and sex-matched control group. In addition, the mean VBR of high-dose BDZ-dependent patients (N = 8) was significantly higher than the mean VBR of low-dose BDZ-dependent patients (N = 9). This difference could not be accounted for by the age of the patients or duration of BDZ-dependency and, therefore, suggests a dose-dependent effect of BDZs on the enlargement of internal CSF-spaces. On the other hand, higher values for the width of external CSF-spaces were found to be related to increasing age of the patients and duration of BDZ-dependency.

Cognitive impairment in long-term benzodiazepine users

1988 ◽  
Vol 18 (2) ◽  
pp. 365-374 ◽  
Author(s):  
Susan Golombok ◽  
Parimala Moodley ◽  
Malcolm Lader
Keyword(s):  
Neuropsychological Tests ◽  
Matched Control ◽  
Control Group ◽  
Therapeutic Practice ◽  
The Past ◽  
Visual Spatial ◽  
Wide Range ◽  
High Doses ◽  
One Year

SynopsisIn view of the very extensive and often prolonged use of benzodiazepines in therapeutic practice, this study was designed to investigate whether or not cognitive ability is impaired in longterm benzodiazepine users, and to determine the nature and extent of any deficit. Fifty patients currently taking benzodiazepines for at least one year, thirty-four who had stopped taking benzodiazepines, and a matched control group of subjects who had never taken benzodiazepines or who had taken benzodiazepines in the past for less than one year were administered a battery of neuropsychological tests designed to measure a wide range of cognitive functions. It was found that patients taking high doses of benzodiazepines for long periods of time perform poorly on tasks involving visual-spatial ability and sustained attention. This is consistent with deficits in posterior cortical cognitive function.

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