Home About us Contact
|
Home About us Contact | ||
|
|
||
Affected Men (affected + man)
Selected AbstractsRisk Factors for Vertebral Deformities in Men: Relationship to Number of Vertebral DeformitiesJOURNAL OF BONE AND MINERAL RESEARCH, Issue 2 2000A. A. Ismail Abstract Recent epidemiological studies suggest a similar overall prevalence of vertebral deformity in men to that in women, though the influence of increasing age on the prevalence of vertebral deformity is less marked in men. However, most affected men have only a single or two vertebral deformities, which may be unrelated to osteoporosis. The aim of this study was to examine the role of risk factors, previously demonstrated to be associated with vertebral osteoporosis in females, in men with single/dual deformities compared to those with multiple deformities. Age stratified random samples of men aged 50 years and over were recruited from population registers in 30 European centers as part of the European Vertebral Osteoporosis Study (EVOS). Subjects had a lateral spinal radiograph and the presence of vertebral deformity was determined using the McCloskey algorithm. Lifestyle and other risk factor data were obtained from an interviewer-administered questionnaire. In all 6937 men with a mean age of 64.4 (SD = 8.5) years were studied of whom 738 (10.6%) subjects had one or two deformities, and 109 (1.6%) subjects had three or more deformities. There was a marked increase in the prevalence of multiple vertebral deformities with increasing age, but only a modest effect of age on the prevalence of single deformities. Associations between various risk factors for osteoporosis and vertebral deformity were analyzed separately in men with single/dual vertebral deformity from those with three or more deformities using logistic regression. After adjustment for age, there were statistically significant associations between the following risk factors and multiple deformities: previous hip fracture (odds ratio [OR] 10.5), lack of regular physical activity (OR 2.9), low body mass (OR 2.5), and previous steroid use (OR 2.3). By contrast, there were only weak associations with these same variables in males with single/dual deformities and, apart from poor self-reported general health, all of the 95% confidence intervals spanned unity. There was no difference in the reporting of very heavy levels of physical activity under the age of 50 years between men with single/dual deformities and those with multiple deformities. In conclusion, men with multiple deformities showed a similar pattern of risk factor association to those seen in women with vertebral deformity, in contrast to men with single/dual deformities. (J Bone Miner Res 2000;15:278,283) [source] Phenotypic characterisation of autosomal recessive PARK6-linked parkinsonism in three unrelated Italian families,MOVEMENT DISORDERS, Issue 6 2001Anna R. Bentivoglio MD Abstract The clinical features of nine patients (three women and six men) affected by PARK6-linked parkinsonism, belonging to three unrelated Italian families, are reported. The occurrence of affected men and women within one generation suggested an autosomal recessive mode of inheritance in all three families. Mean age at disease onset was 36 ± 4.6 years; all cases except one presented with asymmetrical signs, consisting of tremor and akinesia of one upper limb or unilateral short step gait. Affected individuals had a mean age of 57 ± 8.5 years, and average disease duration was 21 ± 7.8 years. Parkinsonian features included benign course, early onset of drug-induced dyskinesias, and a good and persistent response to levodopa. There were no other associated features (i.e., pyramidal or cerebellar signs, dysautonomia, or diurnal fluctuations unrelated to drug treatment). Cognition was unaffected. The clinical picture was remarkably similar in all patients; no relevant family-related differences were found. PARK6 disease is a new form of early-onset parkinsonism without other atypical clinical features. © 2001 Movement Disorder Society. [source] Effects of Written Information Material on Help-Seeking Behavior in Patients with Erectile Dysfunction: A Longitudinal StudyTHE JOURNAL OF SEXUAL MEDICINE, Issue 2 2008Michael M. Berner MD ABSTRACT Introduction., Neither men with erectile dysfunction (ED) nor their physicians are willing to discuss sexual problem sufficiently. Written information material could facilitate a dialogue and encourage men to seek treatment. Aim., The central task of this article was to determine the effectiveness and acceptance of patient information material for sexual dysfunction. Methods., Through an information campaign, men received informational material. Eight thousand men also received a first survey, which asked about the intention to seek treatment and to discuss the sexual problem with a physician or partner. A second follow-up questionnaire, 3,6 months after the first one, asked for the implementation of these intentions. Descriptive and regression-based analyses were applied. Main Outcome Measures., Help-seeking behavior, subjective assessment of change in disease severity and partnership quality, satisfaction. Results., Four hundred forty-three men participated in both surveys. Nearly 90% of them became active after reading the information material. More than half talked with their partner (57.8%) and a physician (65%), and one-third sought treatment (31.8%). Especially discussing the problem with the partner and receiving treatment improved erectile functioning and led to an increase in the quality of partnership (P , 0.05). The initial intention to become active was a good predictor for completing an action. The main reasons for not becoming active were inhibitions to talk about ED (46.8%) and fear of a medical examination (27.7%). Conclusions., Overall, the results demonstrate that written information material is a useful resource for men with ED, because it evokes a high help-seeking behavior. It was perceived both to improve the sexual problem as well as to increase the quality of partnership. Providing such material in the medical practice may be an appropriate way to overcome inhibitions and to initiate dialogue with affected men. However, the results must be interpreted with caution because of possible motivationally driven self-selection bias. Berner MM, Leiber C, Kriston L, Stodden V, and Günzler C. Effects of written information material on help-seeking behavior in patients with erectile dysfunction: A longitudinal study. J Sex Med 2008;5:436,447. [source] McLeod neuroacanthocytosis: Genotype and phenotype,ANNALS OF NEUROLOGY, Issue 6 2001Adrian Danek MD McLeod syndrome is caused by mutations of XK, an X-chromosomal gene of unknown function. Originally defined as a peculiar Kell blood group variant, the disease affects multiple organs, including the nervous system, but is certainly underdiagnosed. We analyzed the mutations and clinical findings of 22 affected men, aged 27 to 72 years. Fifteen different XK mutations were found, nine of which were novel, including the one of the eponymous case McLeod. Their common result is predicted absence or truncation of the XK protein. All patients showed elevated levels of muscle creatine phosphokinase, but clinical myopathy was less common. A peripheral neuropathy with areflexia was found in all but 2 patients. The central nervous system was affected in 15 patients, as obvious from the occurrence of seizures, cognitive impairment, psychopathology, and choreatic movements. Neuroimaging emphasized the particular involvement of the basal ganglia, which was also detected in 1 asymptomatic young patient. Most features develop with age, mainly after the fourth decade. The resemblance of McLeod syndrome with Huntington's disease and with autosomal recessive chorea-acanthocytosis suggests that the corresponding proteins,XK, huntingtin, and chorein,might belong to a common pathway, the dysfunction of which causes degeneration of the basal ganglia. [source] Multiple cutaneous and uterine leiomyomata resulting from missense mutations in the fumarate hydratase geneCLINICAL & EXPERIMENTAL DERMATOLOGY, Issue 1 2006G. S. Chuang Summary Multiple cutaneous and uterine leiomyomata (MCL) is an autosomal dominant disorder characterized by the development of benign smooth muscle tumours (leiomyomas) in the skin and uterus of affected women, and in the skin of affected men. In rare cases, MCL has been associated with a predisposition to the rare type II papillary renal cell cancer, also known as hereditary leiomyomatosis and renal cell cancer. The genetic locus for MCL has been mapped to chromosome 1q42.3,43 and subsequently, germline mutations in the fumarate hydratase (FH) gene have been identified. In addition, analysis of FH in some tumours of MCL patients revealed a second mutation inactivating the wild-type allele, suggesting that FH may function as a tumour suppressor gene. Here, we report two cases of MCL patients with FH mutations, designated as T287P and R190L. T287P represents a novel mutation of a highly conserved amino acid of the FH protein. In addition, a patient with an unusual clinical presentation of MCL was found to have the recurrent mutation, R190L, raising the possibility of incorporating FH sequencing as a diagnostic tool. Our findings extend the allelic series of mutations in FH and support its status as the underlying cause of MCL. [source] | ||||||||||