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Male Controls (male + control)
Kinds of Male Controls Selected AbstractsSex Identification of the Black Swan (Cygnus atratus) using the Locus-specific PCR and Implications for its ReproductionREPRODUCTION IN DOMESTIC ANIMALS, Issue 3 2005P-J He Contents Over the last 4,5 years the small captive population of black swans (Cygnus atratus) has consistently failed to reproduce at the Chengdu Research Base of Giant Panda Breeding. The probable cause was hypothesized to be an abnormal sex distribution of the population. The black swan is an example of a sexually monomorphic species. The locus-specific polymerase chain reaction (PCR) approach based on the chromo-helicase-DNA-binding 1 (CHD1) gene, was adopted for the sex determination of the black swans. For this purpose, F1, F2 and R primers were designed using the primerselect software for amplification of the CHD1 gene region. DNA agarose gel electrophoresis showed that the female control displayed two bands, whereas only a single band was found in the male control. Sequence analyses of all seven unknown sex black swans demonstrated the sex-specific DNA band for female. Therefore, it was inferred that all the individuals of the black swan population are females, which has resulted in unfertilized eggs and reproduction failure. This method can be extended to the sexing of other monomorphic avian species and will assist in the design of breeding projects. [source] ,For Our Devotion and Pleasure': The Sexual Objects of Jean, Duc de BerryART HISTORY, Issue 2 2001Michael Camille Jean, Duc de Berry (1340,1416), often seen as the first great ,collector' in Western art, is also described by some historians as a ,homosexual'. This article examines the relationship between these two terms and the problematic historical evidence for the latter claim, exploring the duke's desire for things, images and bodies in less categorical terms. The main argument is that we can best understand Jean's sexual tastes from the artworks he commissioned and in which we know from contemporary accounts he took great personal delight. Reinterpretations are provided of some well-known images, such as the January page of the unfinished Trés Riches Heures (1416), where the patron is pictured at the centre of a ,homosocial' feast for the eyes. This manuscript, along with the marginal decoration of his Grandes Heures, suggests his enjoyment of beautiful youthful bodies in general and of androgyny in particular. However, this has to be viewed within the very different gender system of the late fourteenth century in which women, youths and children were literally objects of male control. Only in this sense can we begin to understand how the duke's love of things intersected with his political position and power more generally. Rather than see his collecting in all its polymorphous perversity as a symptom of personal trauma, I want to view it as a socially creative and recuperative act that was part of the performance of a ruthless man of power. [source] Absence of pestivirus antigen in brains with white matter damageDEVELOPMENTAL MEDICINE & CHILD NEUROLOGY, Issue 4 2006Olaf Dammann We previously suggested that antenatal pestivirus infection might play a role in the pathogenesis of perinatal brain white matter damage (WMD) in preterm infants. We have now examined 22 brains from stillborns and deceased newborns (both preterm and term) for the presence of bovine virus diarrhoea virus (BVDV) antigen. The brains of five females and five males with WMD (median gestational age 36.5wks), and nine female and three male controls (median gestational age 36.5wks) were used in the study. No BVDV antigen was detected in any of the 22 brains. We conclude that brain infection with BVDV is unlikely to play a role in WMD pathogenesis among preterm or term newborns. Further research is needed to test the hypothesis that intrauterine exposure to pestivirus antigen elicits a fetal inflammatory response which then contributes to WMD. [source] DNA damage in leukocytes of workers occupationally exposed to arsenic in copper smeltersENVIRONMENTAL AND MOLECULAR MUTAGENESIS, Issue 2 2005Jadwiga Palus Abstract Inorganic arsenic (i-As) is a known human carcinogen; however, humans continue to be exposed to i-As in drinking water and in certain occupational settings. In this study, we used the Comet assay to evaluate DNA damage in the somatic cells of workers from three Polish copper smelters who were occupationally exposed to i-As. Blood samples were collected from 72 male workers and 83 unexposed male controls and used for the detection of DNA damage, oxidative DNA damage, and DNA damage after a 3-hr incubation in culture. Urine samples were collected to assess the level of exposure. The mean concentration of arsenic metabolites in urine [the sum of arsenite (AsIII), arsenate (AsV), monomethylarsenate (MMA) and dimethylarsenate (DMA)] and the concentrations of DMA (the main metabolite in urine) were higher in workers than in controls, but the differences were not statistically significant. By contrast, the level of DNA damage, expressed as the median tail moment, was significantly higher in the leukocytes of workers than in the controls. Comet assays conducted with formamidopyrimidine glycosylase (FPG) digestion to detect oxidative DNA damage indicated that oxidative lesions were present in leukocytes from both the exposed and control groups, but the levels of damage were significantly higher among the workers. Incubation of the cells in culture resulted in a significant reduction in the levels of DNA damage, especially among leukocytes from the workers, suggesting that the DNA damage was subject to repair. Our findings indicate that copper smelter workers have increased levels of DNA damage in somatic cells, suggesting a potential health risk for the workers. Although i-As was present in air samples from the smelters and in urine samples from workers, no clear association could be made between i-As exposure and the DNA damage. Environ. Mol. Mutagen., 2005. © 2005 Wiley-Liss, Inc. [source] Cerebral Cortical Gyrification: A Preliminary Investigation in Temporal Lobe EpilepsyEPILEPSIA, Issue 2 2007Lisa Ronan Summary:,Purpose: To introduce a measure of global cortical folding in epilepsy by using stereology. Subtle developmental abnormalities associated with temporal lobe epilepsy may encompass brain morphologic changes such as an aberrant degree of cortical folding. Methods: Stereologic methods of volume and surface-area estimation were applied to in vivo MR brain-image data of a cohort of 20 temporal lobe epilepsy (TLE) patients (10 men, 10 women), and 20 neurologically normal controls (10 men, 10 women). Indices of cerebral gyrification and cerebral atrophy were generated. The impact of side of seizure onset, age at onset, history of febrile seizures, presence or absence of lesions, and presence or absence of secondarily generalized seizures on cerebral gyrification was assessed. Results: Although no significant group mean difference was found in the degree of cerebral gyrification between patients and controls, five of 10 of male patients had an abnormal gyrification when compared with male controls. One female patient had a significant change in gyrification compared with female controls. In general, patients with TLE demonstrated a significant degree of global cerebral atrophy compared with controls. Clinical factors were not demonstrated to affect significantly any of the quantitative parameters. Conclusions: The results of this study suggest that an aberrant degree of global cerebral gyrification may occur in certain clinical groups of TLE patients. These findings have implications for general theories of developmental susceptibility in TLE. [source] Drinking pattern and risk of non-fatal myocardial infarction: a population-based case,control studyADDICTION, Issue 3 2004Maurizio Trevisan ABSTRACT Aims Alcohol consumption has been associated with a reduced risk of heart disease incidence and mortality. However, most studies have focused on an average volume per specific time period and have paid little attention to the pattern of drinking. The aim of this study was to examine the association between various drinking patterns and myocardial infarction (MI). Design A population-based case,control study. Methods Participants were 427 white males with incident MI and 905 healthy white male controls (age 35,69 years) selected randomly from two Western New York counties. During computer-assisted interviews detailed information was collected regarding patterns of alcohol consumption during the 12,24 months prior to interview (controls) or MI (cases). Findings Compared to life-time abstainers, adjusted odds ratios (ORs) and 95% confidence interval (CI) for non-current and current drinkers were 0.66 (0.31,1.39) and 0.50 (0.24,1.02), respectively. Daily drinkers exhibited a significantly lower OR (0.41) compared to life-time abstainers. Participants who drank mainly without food had an OR of 1.49 (0.96,2.31) compared to those who drank mainly with food and 0.62 (0.28,1.37) compared to life-time abstainers. Men who reported drinking only at weekends had a significantly greater MI risk [1.91; (1.21,3.01)] compared to men who drank less than once/week, but not compared to life-time abstainers [0.91 (0.40,2.07)]. Conclusions Our results indicate that patterns of alcohol use have important cardiovascular health implications. [source] Sexually dimorphic effects of hippocampal cholinergic deafferentation in ratsEUROPEAN JOURNAL OF NEUROSCIENCE, Issue 11 2004Zachariah Jonasson Abstract To determine whether the basal forebrain-hippocampal cholinergic system supports sexually dimorphic functionality, male and female Long-Evans rats were given either selective medial septum/vertical limb of the diagonal band (MS/VDB) cholinergic lesions using the neurotoxin 192 IgG-saporin or a control surgery and then postoperatively tested in a set of standard spatial learning tasks in the Morris water maze. Lesions were highly specific and effective as confirmed by both choline acetyltransferase/parvalbumin immunostaining and acetylcholinesterase histochemistry. Female controls performed worse than male controls in place learning and MS/VDB lesions failed to impair spatial learning in male rats, both consistent with previous findings. In female rats, MS/VDB cholinergic lesions facilitated spatial reference learning. A subsequent test of learning strategy in the water maze revealed a female bias for a response, relative to a spatial, strategy; MS/VDB cholinergic lesions enhanced the use of a spatial strategy in both sexes, but only significantly so in males. Together, these results indicate a sexually dimorphic function associated with MS/VDB-hippocampal cholinergic inputs. In female rats, these neurons appear to support sex-specific spatial learning processes. [source] Quantitative model of cellulite: three-dimensional skin surface topography, biophysical characterization, and relationship to human perceptionINTERNATIONAL JOURNAL OF COSMETIC SCIENCE, Issue 4 2005L. K. Smalls Gynoid lipodystrophy (cellulite) is the irregular, dimpled skin surface of the thighs, abdomen, and buttocks in 85% of post-adolescent women. The distinctive surface morphology is believed to result when subcutaneous adipose tissue protrudes into the lower reticular dermis, thereby creating irregularities at the surface. The biomechanical properties of epidermal and dermal tissue may also influence severity. Cellulite-affected thigh sites were measured in 51 females with varying degrees of cellulite, in 11 non-cellulite controls, and in 10 male controls. A non-contact high-resolution three-dimensional (3D) laser surface scanner was used to quantify the skin surface morphology and determine specific roughness values. The scans were evaluated by experts and na,ve judges (n = 62). Body composition was evaluated via dual-energy X-ray absorptiometry; dermal thickness and the dermal,subcutaneous junction were evaluated via high-resolution 3D ultrasound and surface photography under compression. Biomechanical properties were also measured. The roughness parameters Svm (mean depth of the lowest valleys) and Sdr (ratio between the roughness surface area and the area of the xy plane) were highly correlated to the expert image grades and, therefore, designated as the quantitative measures of cellulite severity. The strength of the correlations among na,ve grades, expert grades, and roughness values confirmed that the data quantitatively evaluate the human perception of cellulite. Cellulite severity was correlated to BMI, thigh circumference, percent thigh fat, architecture of the dermal,subcutaneous border (ultrasound surface area, red-band SD from compressed images), compliance, and stiffness (negative correlation). Cellulite severity was predicted by the percent fat and the area of the dermal,subcutaneous border. The biomechanical properties did not significantly contribute to the prediction. Comparison of the parameters for females and males further suggests that percent thigh fat and surface area roughness deviation are the distinguishing features of cellulite. [source] Lack of association between the incidence of testicular germ cell tumors and Y-chromosome haplogroups in the Japanese populationINTERNATIONAL JOURNAL OF UROLOGY, Issue 9 2006ASHRAF A EWIS Background: Despite being relatively uncommon, testicular germ cell tumors (TGCT) are the most common malignant disease in young men. Epidemiological studies concerning patients with testicular cancer indicate that the most of them have poor semen quality or testicular dysgenesis. However, many studies have shown that the Y chromosome harbors many candidate genes responsible for spermatogenesis process and development and maintenance of the germ cells. The Y chromosome is thought to have a relationship with the formation and progression of TGCT. Materials and methods: To verify this relationship, we investigated if there is any correlation between the Y chromosome structural variations presented as different haplogroups and the occurrence of TGCT in the Japanese population. Using combined haplogroups based on typing of three Y chromosome polymorphic binary markers, we analyzed 68 TGCT derived from Japanese patients together with randomly selected 104 unrelated healthy Japanese matched male controls who were confirmed as residents of the same geographic area. Results: Our findings showed a lack of association between the incidence of TGCT and the different Y- chromosome haplogroups in Japanese population. Conclusion: We concluded that there are no significant variations in males from different Y chromosome lineages regarding their susceptibility or resistance for developing TGCT. The previously hypothesized role of the Y chromosome in the development of TGCT is still uncertain and needs further verification. [source] Sex differences in cerebral injury after severe haemorrhage and ventricular fibrillation in pigsACTA ANAESTHESIOLOGICA SCANDINAVICA, Issue 3 2010E. SEMENAS Background: Experimental studies of haemorrhagic shock have documented a superior haemodynamic response and a better outcome in female animals as compared with male controls. Such sexual dimorphism has, nevertheless, not been reported after circulatory arrest that follows exsanguination and shock. We aimed to study differences in cerebral injury markers after exsanguination cardiac arrest in pre-pubertal piglets. The hypothesis was that cerebral injury is less extensive in female animals, and that this difference is independent of sexual hormones or choice of resuscitative fluid. Methods: Thirty-two sexually immature piglets (14 males and 18 females) were subjected to 5 min of haemorrhagic shock followed by 2 min of ventricular fibrillation and 8 min of cardiopulmonary resuscitation, using three resuscitation fluid regimens (whole blood, hypertonic saline and dextran, or acetated Ringers' solution plus whole blood and methylene blue). Haemodynamic values, cellular markers of brain injury and brain histology were studied. Results: After successful resuscitation, female piglets had significantly greater cerebral cortical blood flow, tended to have lower S-100, values and a lower cerebral oxygen extraction ratio. Besides, in female animals, systemic and cerebral venous acidosis were mitigated. Female piglets exhibited a significantly smaller increase in neuronal nitric oxide synthase (nNOS) and inducible nitric oxide synthase (iNOS) expression in their cerebral cortex, smaller blood,brain-barrier (BBB) disruption and significantly smaller neuronal injury. Conclusion: After resuscitation from haemorrhagic circulatory arrest, cerebral reperfusion is greater, and BBB permeability and neuronal injury is smaller in female piglets. An increased cerebral cortical iNOS and nNOS expression in males implies a mechanistic relationship with post-resuscitation neuronal injury and warrants further investigation. [source] Serum antioxidant and cholesterol levels in patients with different types of cancerJOURNAL OF CLINICAL LABORATORY ANALYSIS, Issue 6 2001Clifford Abiaka Abstract Serum antioxidant (urate, ,-tocopherol) activity and cholesterol concentration in 142 patients of Indian and Arab (Kuwaitis and other Arabs) origin with different types of cancer (breast, colon, stomach, thyroid, oral, rectal, pancreatic, and renal) were compared to 100 age- and sex-matched control subjects. Values were expressed as medians (interquartile range). Urate concentration was significantly decreased in male patients compared to male controls (P < 0.0001) and in female patients and female breast cancer cases compared to female controls; P < 0.0001 and P = 0.001, respectively. ,-Tocopherol concentration decreased significantly in total cancer, stomach, colon, rectal, and breast cancer cases than the controls; P < 0.0001, P < 0.0001, P < 0.0001, P = 0.012, and P = 0.022, respectively. Cholesterol concentration decreased significantly in stomach, oral, colon, and total cancer cases compared to the controls; P < 0.0001, P < 0.0001, P = 0.002, and P = 0.012, respectively. Among controls, females had significantly (P < 0.0001) lower concentrations of ,-tocopherol than males. Among patients, cholesterol, urate, and ,-tocopherol concentrations decreased significantly in smokers than in nonsmokers; P < 0.0001, P = 0.004, and P = 0.047, respectively. Generally, changes in ,-tocopherol/cholesterol ratios mimicked changes in ,-tocopherol concentration. Concentrations of all parameters decreased significantly in male patients compared to male controls. Age was positively associated with all three analytes with respect to the controls. ,-Tocopherol correlated with cholesterol in cancer patients (r = 0.367; P < 0.0001) and with urate in the controls (r = 0.342; P < 0.0001). The data suggest cancer-related diminished synthesis of cholesterol and, generally, a greater antioxidant burden for ,-tocopherol than urate in cancer-generated oxidative stress. The increased incidence of pancreatic cancer in Kuwaitis warrants further study. J. Clin. Lab. Anal. 15:324,330, 2001. © 2001 Wiley-Liss, Inc. [source] An audit of diabetes control, dietary management and quality of life in adults with type 1 diabetes mellitus, and a comparison with nondiabetic subjectsJOURNAL OF HUMAN NUTRITION & DIETETICS, Issue 1 2006F. Tahbaz Abstract Objectives, The study's objective was to audit current diet and disease management in a community-based sample of people with type 1 diabetes. Methods, The study involved adults with type 1 diabetes and control subjects. Reported amounts of dietary intake were collected. Indices of diabetes control were determined by standard methods. Quality of life of both groups was assessed with appropriate measures. Results were compared between two groups. Results, Mean HbA1c concentration was 8.5% (SD 2.21%) for women with diabetes and 8.6% (SD 1.91%) for men. There was no significant difference between the diabetic and control subjects in self-reported energy intake and macronutrient intake, with the exception that the contribution of saturated fatty acid to energy intake was higher in male controls than in male diabetics. There was no association between dietary intakes and glycemic control in diabetic subjects. Anthropometric measurements, blood pressure and plasma lipids in patients were within normal range and not significantly different from the controls. Plasma fibrinogen concentration was higher in patients. Diabetic subjects did not have a diminished quality of life. Conclusions, Dietary management in these patients was generally focused on controlling carbohydrate intake. Most had suboptimal diabetes control. [source] Serum Testosterone Levels in Males with Alzheimer's DiseaseJOURNAL OF NEUROENDOCRINOLOGY, Issue 2 2004C. Pennanen Abstract This study aimed to investigate whether there are differences in serum testosterone levels between male patients with Alzheimer's disease (AD) and cognitively normal male controls. Testosterone and sex hormone binding globulin (SHBG) levels were measured from 14 patients with mild to moderate AD and 16 age-matched control males. The AD patients had higher levels of serum total (P = 0.02) and free testosterone (P < 0.001), and higher free androgen index (FAI) (P = 0.02) compared to controls. No differences were found for the SHBG levels. These data provide no support for hypotheses of (disproportionally) decreased levels of serum testosterone in AD. These data also show that all cognitively normal controls had an FAI below the normal range. [source] Investigation of Quantitative Trait Loci in the CCKAR Gene With Susceptibility to AlcoholismALCOHOLISM, Issue 2002Takehito Okubo Background Cholecystokinin (CCK) plays an important role in the function of the central nervous system by interacting with dopamine and other neurotransmitters. We previously reported genetic variations in the promoter and coding regions of the CCKA receptor (CCKAR), CCKBR, and CCK genes and a possible association between polymorphisms of the CCKAR gene and alcoholism. In this study, association analyses were re-examined between the polymorphisms of the promoter region of the CCKAR gene and patients with alcohol withdrawal symptoms, in addition to patients with alcoholic liver injury. Methods A total of 131 Japanese male patients with alcohol withdrawal symptoms, 70 Japanese patients with alcoholic liver injury, and 98 age-matched Japanese male controls (nonhabitual drinkers) were examined using polymerase chain reaction-based single strand conformational polymorphism and sequencing analyses. Results Significant differences between patients with hallucination and controls were found in the allele frequencies at the ,388 and ,85 loci of the CCKAR gene (p= 0.0095, p= 0.0087, respectively), but these differences were not significant after Bonferroni correction for multiple testing. In contrast, the frequency of the homozygous genotype ,85 CC was significantly higher in hallucination-positive patients than in controls (p= 0.0031) and in patients with hallucination accompanying delirium tremens than in controls (p= 0.0022), and these differences were significant after Bonferroni correction. Conclusions The data from the case control suggest that polymorphisms of the promoter region of the CCKAR gene do not play a major role in the pathogenesis of alcohol withdrawal symptoms or alcoholic liver injury. However, a significant association was found between polymorphism at the ,85 locus of the CCKAR gene and patients with hallucination, and especially patients with hallucination accompanying delirium tremens. [source] The factor II G20210A gene polymorphism, but not factor V Arg506Gln, is associated with peripheral arterial disease: results of a case,control studyJOURNAL OF THROMBOSIS AND HAEMOSTASIS, Issue 8 2004J-L. Reny Summary.,Background: The FIIG20210A polymorphism has been associated with arterial wall thickness and atherothrombotic diseases in selected subgroups. The FVArg506Gln polymorphism does not seem to be associated with arterial diseases. Few data are available on these polymorphisms and the risk of peripheral arterial disease (PAD). Objectives: To study the association between the FIIG20210A and FVArg506Gln polymorphisms and PAD and its clinical severity. To examine the potential interactions with traditional vascular risk factors. Patients and methods: We studied 184 consecutive male patients under 70 years of age with symptomatic PAD and 330 age-matched male controls free of symptomatic PAD and with no cardiovascular history. We evaluated the FIIG20210A and FVArg506Gln polymorphisms in all subjects. Results: Mean age was 57.1 ± 7.2 years (cases) and 56.7 ± 7.6 years (controls). The FII20210A allele was more frequent in PAD patients with odds ratios (OR) of 3.77 (1.39,10.2) in univariate analysis and 4.30 (1.3,14.7) after adjustment for diabetes, smoking, hypertension and hypercholesterolemia. In smokers or past smokers the magnitude of the association was markedly increased but there was no evidence of an interaction between tobacco exposure and FIIG20210A. In case subjects, the FII20210A allele was also associated with critical ischemia [OR = 4.1 (1.1,15.7), P = 0.039 in multivariate analysis]. FVArg506Gln was not associated with PAD [OR = 0.65 (0.27,1.54) and 0.77 (0.28,2.1) in univariate and multivariate analyses, respectively]. Conclusions: The FIIG20210A gene polymorphism may be a risk factor for PAD and its severity. In contrast, the FVArg506Gln polymorphism is not associated with PAD. [source] Hypospadias and maternal exposures to cigarette smokePAEDIATRIC & PERINATAL EPIDEMIOLOGY, Issue 6 2005Suzan L. Carmichael Summary The few previous studies of hypospadias and smoking have suggested either no association or a reduced risk. This study, which uses data from the National Birth Defects Prevention Study, a multi-state, population-based case,control study, includes data on males born with severe hypospadias (i.e. the urethra opens at the penile shaft, scrotum or perineum) from 1997 to 2000. Non-malformed, liveborn male controls were selected randomly from birth certificates or from birth hospitals. Maternal interviews were completed by telephone with 453 case mothers and 1267 control mothers. Maternal smoking was not associated with hypospadias risk. For example, during the third month of pregnancy, smoking < 0.5 pack/day had an odds ratio (OR) of 1.1 [95% CI 0.6, 1.9]; 0.5 pack/day, 0.6 [0.4, 1.1]; and ,,1 pack/day, 0.8 [0.4, 1.6]. Exposure to any secondhand smoke at home during the third month of pregnancy showed an OR of 0.6 [95% CI 0.4, 1.0], and exposure at work or school, an OR of 0.7 [0.5, 1.1]. Similar risks were observed for other months during the periconceptional period, and adjustment for several potential confounders did not substantially alter results. This analysis does not confirm a recent report suggesting that maternal smoking is associated with a reduced risk of having offspring with hypospadias. [source] Psychopathology and familial stress , comparison of boys with Fragile X syndrome and Spinal Muscular AtrophyTHE JOURNAL OF CHILD PSYCHOLOGY AND PSYCHIATRY AND ALLIED DISCIPLINES, Issue 7 2002A. Von Gontard Background: Chronic illness and mental retardation are both associated with an increased rate of behavioural problems in children and with considerable emotional strain in families. The aim of the study was to analyse and compare the specific effects of two exemplary conditions on familial stress and coping. Methods: Forty-nine boys with Fragile X syndrome (FXS) were compared with 46 boys with Spinal Muscular Atrophy (SMA) and 32 male controls. Intelligence was measured with the RAVEN or K-ABC tests. Psychopathology was assessed with the CBCL questionnaire and a structured psychiatric interview (Kinder-DIPS), parental stress with the QRS, coping with the F-COPES and social support with the F-SOZU questionnaires. Results: The mean age of the FXS boys was 8.6, of the SMA boys 12.7 and of the controls 11.2 years. The mean IQ was 47 for the FXS, 112 for the SMA and 103 for the control groups. According to the CBCL, 89.8% of the FXS boys, 21.7% of the SMA and 15.7% of the controls had a total score in the borderline or clinical range. The rates were 63.3%, 34.8% and 21.9% for internalising and 67.3%, 10.9% and 18.8% for externalising behaviour, respectively. 81.6% of the FXS and 10.9% of the SMA patients had a DSM-IV or ICD-10 psychiatric diagnosis. The most common were ADHD (FXS: 36) and Separation Anxiety Disorder (SMA: 4). In total, parental stress was significantly higher in the FXS than in the SMA families (and in both compared to controls). There were no major inter-group differences regarding social support and familial coping. Conclusions: Children with FXS are severely mentally retarded and have a high rate of mainly externalising disorders. Despite good coping abilities and social support, this is associated with high familial stress. The SMA boys, with an intelligence in the upper normal range, are no more deviant than their healthy controls. Parental stress is lower in the SMA families with good coping abilities. In conclusion, families with mentally retarded children are in even greater need of help than those of children with severe chronic illness/physical handicap. Abbreviations: SMA: Spinal Muscular Atrophy; FXS: Fragile X syndrome. [source] Sexual Function and Obstructive Sleep Apnea,Hypopnea: A Randomized Clinical Trial Evaluating the Effects of Oral-Appliance and Continuous Positive Airway Pressure TherapyTHE JOURNAL OF SEXUAL MEDICINE, Issue 4ii 2007Aarnoud Hoekema DMD ABSTRACT Introduction., The obstructive sleep apnea,hypopnea syndrome (OSAHS) is associated with sexual dysfunction. Although successful treatment with continuous positive airway pressure (CPAP) has been demonstrated to improve sexual function, the effects of oral-appliance therapy are unknown. Aim., The aims of this study were to determine to what extent untreated male OSAHS patients experience sexual dysfunctions compared with control subjects, and second, to evaluate the effects of oral-appliance and CPAP therapy on sexual functioning. Methods., Sexual functioning was determined in 48 OSAHS patients with the Golombok Rust inventory of sexual satisfaction (GRISS) and a testosterone measurement. GRISS outcomes were compared with 48 age-matched male controls without any sexual problems. Patients were randomized for either oral-appliance or CPAP therapy. After 2,3 months of treatment, the GRISS and testosterone measurements were repeated. Main Outcome Measure., The outcomes on the GRISS were used as the main outcome measure. Results., Compared with controls, OSAHS patients had significantly more erectile dysfunction (mean ± standard deviation; OSAHS 8.7 ± 3.8 vs. controls 6.8 ± 2.6) and sexual dissatisfaction (mean ± standard deviation; OSAHS 9.7 ± 4.2 vs. controls 8.1 ± 2.6) as indicated by the GRISS. No significant changes in the GRISS or testosterone levels were observed in the 20 and 27 patients completing the follow-up review for oral-appliance and CPAP therapy. A correlation was demonstrated between the extent of erectile dysfunction at baseline and improvements in erectile function following treatment (r = ,0.547, P = 0.000). Conclusions., This study confirms that male OSAHS patients show more sexual dysfunctions compared with age-matched control subjects. Although significant improvements in sexual functioning in neither the oral-appliance nor CPAP-treated group could be established, our findings suggest that untreated OSAHS patients with pronounced erectile dysfunction experience some improvement following treatment. Hoekema A, Stel A-L, Stegenga B, van der Hoeven JH, Wijkstra PJ, van Driel MF, and de Bont LGM. Sexual function and obstructive sleep apnea,hypopnea: A randomized clinical trial evaluating the effects of oral-appliance and continuous positive airway pressure therapy. J Sex Med 2007;4:1153,1162. [source] The chromosome 7q region association with rheumatoid arthritis in females in a british population is not replicated in a North American case,control seriesARTHRITIS & RHEUMATISM, Issue 1 2009Benjamin D. Korman Objective The single-nucleotide polymorphism (SNP) rs11761231 on chromosome 7q has been reported to be sexually dimorphic marker for rheumatoid arthritis (RA) susceptibility in a British population. We sought to replicate this finding and to better characterize susceptibility alleles in the region in a North American population. Methods DNA from 2 North American collections of RA patients and controls (1,605 cases and 2,640 controls) was genotyped for rs11761231 and 16 additional chromosome 7q tag SNPs using Sequenom iPlex assays. Association tests were performed for each collection and also separately, contrasting male cases with male controls and female cases with female controls. Principal components analysis (EigenStrat) was used to determine association with RA before and after adjusting for population stratification in the subset of the samples for which there were whole-genome SNP data (772 cases and 1,213 controls). Results We failed to replicate an association of the 7q region with RA. Initially, rs11761231 showed evidence for association with RA in the North American Rheumatoid Arthritis Consortium (NARAC) collection (P = 0.0073), and rs11765576 showed association with RA in both the NARAC (P = 0.038) and RA replication (P = 0.0013) collections. These markers also exhibited sex differentiation. However, in the whole-genome subset, neither SNP showed significant association with RA after correction for population stratification. Conclusion While 2 SNPs on chromosome 7q appeared to be associated with RA in a North American cohort, the significance of this finding did not withstand correction for population substructure. Our results emphasize the need to carefully account for population structure to avoid false-positive disease associations. [source] Indications of infection with Chlamydia pneumoniae are associated with expansion of abdominal aortic aneurysmBRITISH JOURNAL OF SURGERY (NOW INCLUDES EUROPEAN JOURNAL OF SURGERY), Issue 4 2000R. A. P. Scott Background: This was a study of the possible association between the progression of abdominal aortic aneurysm (AAA) and indicators of infection with Chlamydia pneumoniae. Methods: Blood samples were taken from patients with AAA (3 cm diameter or greater detected by an aneurysm screening programme) who had been followed prospectively for up to 11·5 (mean 4·1) years. A sex- and age-matched control group was also recruited. Immunoglobulin (Ig) G and IgA antibodies against C. pneumoniae were measured by a microimmunofixation test. Analysis of variance, multiple linear regression and logistic regression were used for statistical analysis. Ninety men and ten women with a small AAA and 20 age-matched male controls were investigated. Outcome measures studied were AAA expansion, and IgA and IgG titres of antibodies against C. pneumoniae. Results: Forty-four (95 per cent confidence interval (c.i.) 31,55) per cent of the men with an AAA had IgA greater than 64 or IgA above 28 compared with 10 per cent of the women with an AAA (odds ratio (OR) 7·2 (95 per cent c.i. 1·0,160·8)) and 25 per cent of the controls (OR 2·24 (95 per cent c.i. 0·67,7·93)). IgA greater than 128 was significantly associated with greater expansion (5·3 versus 2·6 mm per year), even after adjustment for initial AAA size and age. A significant dose,response reaction was found between IgA titre and mean annual expansion (R = 0·45 (95 per cent c.i. 0·24,0·62)). The significant positive correlation remained after adjusting for initial AAA size and age. Finally, IgG greater than 128 was present significantly more often in patients with expansion above 1 cm annually (OR 12·6 (95 per cent c.i. 1·4,293)). Conclusion: A high proportion of men with AAA have signs of infection by C. pneumoniae. The progression of AAAs correlated with the presence of indicators of C. pneumonia infection, and a dose,response reaction between IgA titre and expansion was observed. © 2000 British Journal of Surgery Society Ltd [source] Genetic polymorphisms of estrogen receptor alpha, CYP19, catechol- O -methyltransferase are associated with familial prostate carcinoma risk in a Japanese populationCANCER, Issue 7 2003Kazuhiro Suzuki M.D. Abstract BACKGROUND Estrogen is one of the crucial hormones participating in the proliferation and carcinogenesis of the prostate glands. Genetic polymorphisms in the estrogen metabolism pathway might be involved in the risk of prostate carcinoma development. The authors evaluated the association between genetic polymorphisms in estrogen-related enzymes and receptors and the risk of developing familial prostate carcinoma. METHODS In the current study, 101 cases with prostate carcinoma whose first-degree relatives had prostate carcinoma and 114 healthy age and residence-matched male controls were enrolled. The genotypes of estrogen receptor (ER) alpha, aromatase (CYP19), and catechol- O -methyltransferase (COMT) genes were analyzed. RESULTS For single polymorphisms, a significant association of the T/T genotype of the PvuII site in the ER alpha gene (odds ratio [OR], 3.44; 95% confidence interval [CI], 1.97,5.99; P = 0.0028), and the C/T and T/T genotypes of the CYP19 gene (OR, 1.77; 95% CI, 1.02,3.09; P = 0.037) with prostate carcinoma risk, was observed. The G/A genotype of the COMT gene showed a weak tendency toward increased risk (OR, 1.48; 95% CI, 0.85,2.57; P = 0.18). Stratification of cases according to clinical stage and pathologic grade showed that the C/T and T/T genotypes of the CYP19 gene were associated significantly with high-grade carcinoma (OR, 2.59; 95% CI, 1.47,4.46; P = 0.048). The number of high-risk genotypes (the T/T in ER alpha, the C/T and T/T in CYP19, and the G/A in COMT) significantly increased the risk of developing prostate carcinoma (2 genotypes: OR, 3.00; 95% CI, 1.72,5.23; P = 0.008; 3 genotypes: OR, 6.30; 95% CI, 3.61,10.99; P = 0.002). CONCLUSIONS Genetic polymorphisms of genes in the estrogen metabolism pathway were associated significantly with familial prostate carcinoma risk. Single nucleotide polymorphisms of low-penetrance genes are targets for understanding the genetic susceptibility of familial prostate carcinoma. Cancer 2003;98:1411,6. © 2003 American Cancer Society. DOI 10.1002/cncr.11639 [source] Circulating IGF-I levels are associated with increased biventricular contractility in top-level rowersCLINICAL ENDOCRINOLOGY, Issue 2 2008Giovanni Vitale Summary Background, The intensive physical activity is often associated with cardiac changes. Objectives, (i) To evaluate the IGF-I system and myocardial structure and function by standard Doppler echocardiography and Tissue Doppler in athletes and sedentary controls; and (ii) to determine any relationship between IGF-I system and echocardiographic parameters. Methods, Nineteen male top-level rowers and 19 age-matched healthy sedentary male controls underwent blood determination of fasting serum IGF-I, IGFBP-3 and acid-labile subunit levels and standard Doppler echocardiography combined with pulsed Tissue Doppler of posterior septal wall, left ventricular (LV) lateral mitral annulus and right ventricular (RV) tricuspid annulus. Myocardial presystolic (PSm), systolic (Sm), the ratio of early diastolic (Em) to atrial (Am) velocities as well as myocardial time intervals were calculated. Results, Rowers had higher serum IGF-I levels (P = 0·04), higher biventricular cavity dimensions and wall thicknesses compared to controls. They also had better LV and RV myocardial function than controls. In the rowers, IGF-I was associated with LV ejection fraction (r = 0·50, P = 0·03), RV PSm velocity (r = 0·55, P = 0·01) and with RV myocardial precontraction time (r = ,0·57, P = 0·01). These associations remained significant after adjusting for age and heart rate. Conclusions, Top-level athletes showed higher IGF-I levels and a better myocardial performance than controls, particularly for the RV systolic activity. The independent correlations between IGF-I and systolic parameters of the left (ejection fraction) and right (PSm velocity and precontraction time) ventricles may possibly indicate a role of IGF-I system in the modulation of myocardial inotropism in athletes. Further studies are needed to confirm this hypothesis. [source] Variations in high-density lipoprotein cholesterol in relation to physical activity and Taq 1B polymorphism of the cholesteryl ester transfer protein geneCLINICAL GENETICS, Issue 5 2004M Mukherjee The aim of the study was to determine any association of physical activity and Taq 1B polymorphism in the cholesteryl ester transfer protein gene on high-density lipoprotein (HDL) cholesterol. Five hundred and four subjects, 390 males and 114 females consisting of an equal number of age- and sex-matched healthy controls and patients with coronary artery disease, were included. The mean age (±SD) of the patients and controls were 57.5 ± 10.6 years and 56.8 ± 11.0 years, respectively. All the patients underwent coronary angiography; 33, 58, 63, and 98 patients had normal coronaries, single-, two-, or triple-vessel disease, respectively. A third of the patients had suffered from a myocardial infarction. The genotype distribution conforming to Hardy,Weinberg equilibrium was similar for cases and controls. The mean HDL cholesterol increased from B1B1 through B2B2 genotype in controls and sedentary male patients. Self-reported leisure time physical activity, consisting mostly of an hour of morning walk daily, was associated with a rise in mean HDL cholesterol in male controls (33.6 ± 7.9 mg/dl to 36.2 ± 8.9 mg/dl, p = 0.037) and patients (32.4 ± 7.9 mg/dl to 35.7 ± 11.0 mg/dl; p = 0.018). The exercise-associated rise in HDL cholesterol was most pronounced in controls (32.1 ± 9.1 mg/dl to 36.8 ± 9.3 mg/dl, p = 0.05) and male patients (30.5 ± 7.4 mg/dl to 37.2 ± 9.7 mg/dl, p = 0.007) with B1B1 rather than B1B2 or B2B2 genotype. The results suggest a possible gene-environment interaction in the regulation of HDL cholesterol that needs to be confirmed in other populations and larger samples to rule out a chance occurrence. [source] Arterial remodelling in Fabry diseaseACTA PAEDIATRICA, Issue 2002P Boutouyrie Aim: The enzymatic defect in Fabry disease results in the slow systemic deposition of uncleaved glycosphingolipids in the lysosomes of vascular endothelium and smooth muscle cells, leading to ischaemic strokes, cardiomyopathy and renal failure. Whereas it is known that Fabry disease affects small blood vessels, little is known about its effects on peripheral large arteries. We therefore set out to compare parameters of arterial wall structure and function in a cohort of patients with Fabry disease and an age-matched control group. Methods: Large artery phenotype was non-invasively investigated in 21 hemizygous patients with Fabry disease and 24 age-matched male controls. Common carotid and radial artery diameter, intima-media thickness (IMT) and distensibility were determined with high-definition echotracking systems and aplanation tonometry. Results: Patients with Fabry disease had a significant twofold increase in radial artery IMT and distensibility, independent of body surface area, age and mean blood pressure. In both groups, older age at the time of examination was significantly associated with larger radial artery IMT. The relationship between age and radial IMT was 2.3-fold higher in patients with Fabry disease than in controls (p > 0.01). Carotid IMT was mildly but significantly increased in patients with Fabry disease (+18%), whereas distensibility was unchanged. Conclusion: This study presents evidence of a major increase in arterial wall thickness and distensibility, measurable at the site of a medium-sized artery, in a cohort of patients with classic Fabry disease. [source] | ||||||||||||||||