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Japanese Male Patients (japanese + male_patient)
Selected AbstractsOne novel and one recurrent mutation in the PROS1 gene cause type I protein S deficiency in patients with pulmonary embolism associated with deep vein thrombosisAMERICAN JOURNAL OF HEMATOLOGY, Issue 10 2006Kazuhiro Mizukami Abstract We investigated the molecular basis of type I protein S (PS) deficiency in two unrelated Japanese families, in which both probands developed pulmonary embolism associated with deep vein thrombosis. Nucleotide sequencing of amplified DNA revealed distinct point mutations in the PROS1 gene of the probands, which were designated protein S Sapporo 1 and protein S Sapporo 2. Additional mutations in the PROS1 gene were excluded by DNA sequencing of all exons and intron/exon boundaries. In the 25-year-old Japanese male patient who carried protein S Sapporo 1, we identified a heterozygous A-to-T change in the invariant ag dinucleotide of the acceptor splice site of intron f of the PROS1 gene. This mutation is a novel splice site mutation that impairs normal mRNA splicing, leading to exon 7 skipping, which was confirmed by platelet mRNA analysis. Translation of this mutant transcript would result in a truncated protein that lacks the entire epidermal growth factor-like domain 3 of the PS molecule. In a 31-year-old Japanese male and his younger brother who each carried protein S Sapporo 2, we detected a previously described heterozygous T-to-C transition at nucleotide position 1147 in exon 10 of the PROS1 gene, which predicts an amino acid substitution of tryptophan by arginine at residue 342 in the laminin G1 domain of the PS molecule. Both mutations would cause misfolding of the PS protein, resulting in the impairment of secretion, which is consistent with the type I PS deficiency phenotype. Am. J. Hematol., 2006. © 2006 Wiley-Liss, Inc. [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] Clinical features of Japanese male patients with type 1 autoimmune hepatitisALIMENTARY PHARMACOLOGY & THERAPEUTICS, Issue 3 2006Y. MIYAKE Summary Background Recently, unusual patients with autoimmune hepatitis, such as male patients, have increased. Aim To assess clinical feature of Japanese males with type 1 autoimmune hepatitis compared with females. Methods We investigated consecutive 160 patients with type 1 autoimmune hepatitis, who consisted of 20 males and 140 females, with a median age of 55 (16,79) years. Results Compared with females, males had a lower frequency of definite diagnosis according to the revised scoring system proposed by the International Autoimmune Hepatitis Group (40% vs. 85%) and lower serum levels of immunoglobulin G [1932 (1085,3850) mg/dL vs. 2624 (1354,6562) mg/dL]. However, they were similar in age, form of clinical onset, symptomatic concurrent autoimmune disease, human leucocyte antigen DR status and frequency of cirrhosis at the time of diagnosis. The normalization of serum alanine aminotransferase levels within 6 months after the introduction of corticosteroid treatment was lower in males compared with females (73% vs. 93%). Conclusions In male patients, a diagnosis of autoimmune hepatitis should be made carefully. In Japanese patients with a dominant frequency of human leucocyte antigen DR4, gender may affect the response to corticosteroid treatment. [source] Development of an activity of daily living scale for patients with COPD: The Activity of Daily Living Dyspnoea scaleRESPIROLOGY, Issue 3 2009Yoshiyasu YOZA ABSTRACT Background and objective: Patients with COPD often experience restriction in their activities of daily living (ADL) due to dyspnoea. This type of restriction is unique to patients with COPD and cannot be adequately evaluated by the generic ADL scales. This study developed an ADL scale (the Activity of Daily Living Dyspnoea scale (ADL-D scale)) for patients with COPD and investigated its validity and internal consistency. Methods: Patients with stable COPD were recruited and completed a pilot 26-item questionnaire. Patients also performed the Incremental Shuttle Walk Test (ISWT), and completed the St. George's Respiratory Questionnaire (SGRQ) and Medical Research Council (MRC) dyspnoea grade. Results: There were 83 male participants who completed the pilot questionnaire. Following the pilot, eight items that were not undertaken by the majority of subjects, and three items judged to be of low clinical importance by physical therapists were removed from the questionnaire. The final ADL-D scale contained 15 items. Scores obtained with the ADL-D scale were significantly correlated with the MRC dyspnoea grades, distance walked on the ISWT and SGRQ scores. The ADL-D scores were significantly different across the five grades of the MRC dyspnoea grade. The ADL-D scale showed high consistency (Chronbach's , coefficient of 0.96). Conclusions: The ADL-D scale is a useful scale for assessing impairments in ADL in Japanese male patients with COPD. [source] Randomized clinical trial comparing 5% and 1% topical minoxidil for the treatment of androgenetic alopecia in Japanese menTHE JOURNAL OF DERMATOLOGY, Issue 8 2009Ryoji TSUBOI Abstract Minoxidil is efficacious in inducing hair growth in patients with androgenetic alopecia by inducing hair follicles to undergo transition from the early to late anagen phase. Although the efficacy of 1% topical minoxidil has been confirmed in Japan, no controlled study of 5% topical minoxidil has been conducted using male Japanese subjects. The objective of this trial was to verify the superiority in clinical efficacy of 5% topical minoxidil to 1% topical minoxidil in a double-blind controlled study with male, Japanese androgenetic alopecia patients as the subjects. The trial included 300 Japanese male patients aged 20 years or older with androgenetic alopecia who were administered either 5% topical minoxidil (n = 150) or 1% topical minoxidil (n = 150) for 24 weeks. The mean change from the baseline in non-vellus hair/cm2, the primary efficacy variable, was 26.4 (n = 142) in the 5% topical minoxidil group and 21.2 (n = 144) in the 1% topical minoxidil group at 16 weeks, the main time point for the evaluation. The difference between the groups was significant (P = 0.020). The incidence of adverse events was 8.7% (13/150) in the 5% group and 5.3% (8/150) in the 1% group, with no significant difference between the groups (,2 -test: P = 0.258). Our findings confirmed the superiority of 5% topical minoxidil to 1% topical minoxidil in treating Japanese men with androgenetic alopecia. [source] | ||||||||||