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Male Cases (male + case)

Distribution by Scientific Domains
Medical Sciences57%

Selected Abstracts

Comprehensive survey of mutations in RP2 and RPGR in patients affected with distinct retinal dystrophies: genotype,phenotype correlations and impact on genetic counseling,,

HUMAN MUTATION, Issue 1 2007
Valérie Pelletier
Abstract X-linked forms of retinitis pigmentosa (RP) (XLRP) account for 10 to 20% of families with RP and are mainly accounted for by mutations in the RP2 or RP GTPase regulator (RPGR) genes. We report the screening of these genes in a cohort of 127 French family comprising: 1) 93 familial cases of RP suggesting X-linked inheritance, including 48 out of 93 families with expression in females but no male to male transmission; 2) seven male sibships of RP; 3) 25 sporadic male cases of RP; and 4) two cone dystrophies (COD). A total of 5 out of the 93 RP families excluded linkage to the RP2 and RP3 loci and were removed form the cohort. A total of 14 RP2 mutations, 12 of which are novel, were identified in 14 out of 88 familial cases of RP and 1 out of 25 sporadic male case (4%). In 13 out of 14 of the familial cases, no expression of the disease was noted in females, while in 1 out of 14 families one woman developed RP in the third decade. A total of 42 RPGR mutations, 26 of which were novel, were identified in 80 families, including: 69 out of 88 familial cases (78.4%); 2 out of 7 male sibship (28.6%); 8 out of 25 sporadic male cases (32.0%); and 1 out of 2 COD. No expression of the disease was noted in females in 41 out of 69 familial cases (59.4%), while at least one severely affected woman was recognized in 28 out of 69 families (40.6%). The frequency of RP2 and RPGR mutations in familial cases of RP suggestive of X-linked transmission are in accordance to that reported elsewhere (RP2: 15.9% vs. 6,20%; RPGR: 78.4% vs. 55,90%). Interestingly, about 30% of male sporadic cases and 30% of male sibships of RP carried RP2 or RPGR mutations, confirming the pertinence of the genetic screening of XLRP genes in male patients affected with RP commencing in the first decade and leading to profound visual impairment before the age of 30 years. Hum Mutat 28(1), 81,91, 2007. © 2006 Wiley-Liss, Inc. [source]

Comparative gender biases in models of personality disorder

PERSONALITY AND MENTAL HEALTH, Issue 1 2009
Douglas B. Samuel
The potential of gender bias within the DSM personality disorders has long been a concern of scholars and clinicians. Over the past three decades, research findings utilizing the case vignette methodology have repeatedly indicated a gender bias within the histrionic diagnosis. The current study replicates these findings using a novel case vignette, but extends them to investigate the potential for gender biases within an alternative dimensional model of personality,the Five-Factor Model (FFM). One hundred and forty-one practicing clinicians rated either a male or a female version of a case vignette in terms of either the FFM or the personality disorders from the Diagnostic and Statistical Manual of Mental Disorders (DSM-IV-TR). The results supported the concern of gender bias, with the female case less likely to be diagnosed as antisocial and the male case less likely to be diagnosed as histrionic. However, when the FFM conceptualizations of these two disorders were compared, no significant differences were noted. The results indicate that the FFM may be less prone to gender bias than the current DSM nomenclature. Copyright © 2009 John Wiley & Sons, Ltd. [source]

Adolescent emergency department presentations with alcohol- or other drug-related problems in Perth, Western Australia

ADDICTION, Issue 7 2001
Gary K. Hulse
Aims. To identify the morbidity, type of substance used and the pattern of presentation by adolescents with problems related to alcohol or other drug (AOD) use. Design. A 4-week retrospective review of hospital records. Setting. Four metropolitan hospitals in Perth, Australia. Participants. There were 1064 presentations by people aged 12-19 years of which 160 (15%) were related to AOD use. The median age of the AOD cases was 17 (interquartile range 16-19) of whom 97 (61%) were male and 19 (12%) were Indigenous Australians. Findings. Alcohol was the most frequent precursor to presentation (66, 41%) followed by heroin (24, 15%) and prescription/over-the-counter drugs (24, 15%). Injury was the most common diagnosis at presentation (50, 31%), followed by overdose/drug use (47, 29%). A diagnosis of injury was significantly more likely following the use of alcohol than other categories of substances (,2 = 42.07, df = 3, p < 0.001). Deliberate self-harm (DSH) occurred in more female than male cases (,2 = 7.4, df = 1, p < 0.01). Presentations were more frequent over the weekend (102, 64%) than on weekdays, and the length of stay was significantly shorter for weekend cases (Mann-Whitney U 2132, p < 0.05). Conclusions. Given the small window of opportunity to provide AOD treatment to youth following hospital presentation, a number of suggestions are made. From a harm-minimization perspective the focus of interventions should be on alcohol use by male youth and DSH associated with prescription/over-the-counter drug use by female adolescents. In addition, Indigenous youth are over-represented in hospital presentations, but there is currently a lack of evaluated interventions designed for them. [source]

Comprehensive survey of mutations in RP2 and RPGR in patients affected with distinct retinal dystrophies: genotype,phenotype correlations and impact on genetic counseling,,

HUMAN MUTATION, Issue 1 2007
Valérie Pelletier
Abstract X-linked forms of retinitis pigmentosa (RP) (XLRP) account for 10 to 20% of families with RP and are mainly accounted for by mutations in the RP2 or RP GTPase regulator (RPGR) genes. We report the screening of these genes in a cohort of 127 French family comprising: 1) 93 familial cases of RP suggesting X-linked inheritance, including 48 out of 93 families with expression in females but no male to male transmission; 2) seven male sibships of RP; 3) 25 sporadic male cases of RP; and 4) two cone dystrophies (COD). A total of 5 out of the 93 RP families excluded linkage to the RP2 and RP3 loci and were removed form the cohort. A total of 14 RP2 mutations, 12 of which are novel, were identified in 14 out of 88 familial cases of RP and 1 out of 25 sporadic male case (4%). In 13 out of 14 of the familial cases, no expression of the disease was noted in females, while in 1 out of 14 families one woman developed RP in the third decade. A total of 42 RPGR mutations, 26 of which were novel, were identified in 80 families, including: 69 out of 88 familial cases (78.4%); 2 out of 7 male sibship (28.6%); 8 out of 25 sporadic male cases (32.0%); and 1 out of 2 COD. No expression of the disease was noted in females in 41 out of 69 familial cases (59.4%), while at least one severely affected woman was recognized in 28 out of 69 families (40.6%). The frequency of RP2 and RPGR mutations in familial cases of RP suggestive of X-linked transmission are in accordance to that reported elsewhere (RP2: 15.9% vs. 6,20%; RPGR: 78.4% vs. 55,90%). Interestingly, about 30% of male sporadic cases and 30% of male sibships of RP carried RP2 or RPGR mutations, confirming the pertinence of the genetic screening of XLRP genes in male patients affected with RP commencing in the first decade and leading to profound visual impairment before the age of 30 years. Hum Mutat 28(1), 81,91, 2007. © 2006 Wiley-Liss, Inc. [source]

Areolar sebaceous hyperplasia in a male , a different morphology

JOURNAL OF CUTANEOUS PATHOLOGY, Issue 2 2007
Vrinda Bajaj
Areolar involvement is a rare distinctive entity with an increasing number of male cases being reported. This is also the first reported case of unilateral sebaceous hyperplasia occurring in a male, as plaque morphology. [source]

Identification of occupational cancer risk in British Columbia: A population-based case,control study of 2,998 lung cancers by histopathological subtype

AMERICAN JOURNAL OF INDUSTRIAL MEDICINE, Issue 3 2009
Amy C. MacArthur MHSc
Abstract Background Few studies have investigated occupational lung cancer risk in relation to specific histopathological subtypes. Methods A case,control study was conducted to evaluate the relationship between lung cancer and occupation/industry of employment by histopathological subtype. A total of 2,998 male cases and 10,223 cancer controls, diagnosed between 1983 and 1990, were identified through the British Columbia Cancer Registry. Matched on age and year of diagnosis, conditional logistic regression analyses were performed for two different estimates of exposure with adjustment for potentially important confounding variables, including tobacco smoking, alcohol consumption, marital status, educational attainment, and questionnaire respondent. Results For all lung cancers, an excess risk was observed for workers in the primary metal (OR,=,1.31, 95% CI, 1.01,1.71), mining (OR,=,1.53, 95% CI, 1.20,1.96), machining (OR,=,1.33, 95% CI, 1.09,1.63), transport (OR,=,1.50, 95% CI, 1.08,2.07), utility (OR,=,1.60, 95% CI, 1.22,2.09), and protective services (OR,=,1.27, 95% CI, 1.05,1.55) industries. Associations with histopathological subtypes included an increased risk of squamous cell carcinoma in construction trades (OR,=,1.25, 95% CI, 1.06,1.48), adenocarcinoma for professional workers in medicine and health (OR,=,1.73, 95% CI, 1.18,2.53), small cell carcinoma in railway (OR,=,1.62, 95% CI, 1.06,2.49), and truck transport industries (OR,=,1.51, 95% CI, 1.00,2.28), and large cell carcinoma for employment in the primary metal industry (OR,=,2.35, 95% CI, 1.11,4.96). Conclusions Our results point to excess lung cancer risk for occupations involving exposure to metals, polyaromatic hydrocarbons and asbestos, as well as several new histopathologic-specific associations that merit further investigation. Am. J. Ind. Med. 52:221,232, 2009. © 2008 Wiley-Liss, Inc. [source]

The chromosome 7q region association with rheumatoid arthritis in females in a british population is not replicated in a North American case,control series

ARTHRITIS & RHEUMATISM, Issue 1 2009
Benjamin 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]