Non-synonymous FGD3 Variant as Positional Candidate for Disproportional Tall Stature Accounting for a Carcass Weight QTL (CW-3) and Skeletal Dysplasia in Japanese Black Cattle.

Recessive skeletal dysplasia, characterized by joint- and/or hip bone-enlargement, was mapped within the critical region for a major quantitative trait locus (QTL) influencing carcass weight; previously named CW-3 in Japanese Black cattle. The risk allele was on the same chromosome as the Q allele that increases carcass weight. Phenotypic characterization revealed that the risk allele causes disproportional tall stature and bone size that increases carcass weight in heterozygous individuals but causes disproportionately narrow chest width in homozygotes. A non-synonymous variant of FGD3 was identified as a positional candidate quantitative trait nucleotide (QTN) and the corresponding mutant protein showed reduced activity as a guanine nucleotide exchange factor for Cdc42. FGD3 is expressed in the growth plate cartilage of femurs from bovine and mouse. Thus, loss of FDG3 activity may lead to subsequent loss of Cdc42 function. This would be consistent with the columnar disorganization of proliferating chondrocytes in chondrocyte-specific inactivated Cdc42 mutant mice. This is the first report showing association of FGD3 with skeletal dysplasia.

Do Carpets Alleviate Stress?

BACKGROUND: Owing to increased complexity in the evolution of society, stress has become an important public health problem, and is responsible for more than 30 types of diseases. Most of the research on stress conducted to date has focused on physical and psychological aspects; however, there are very few reports about the association between psychological stress and elements within the residential environment, such as the home, room, and furniture. Therefore, in this study, we focused on the effects of indoor flooring in the residential environment on stress, as flooring is a feature that the human body is in contact with for long periods of time. We objectively measured the extent of psychological stress perceived while walking on carpeting and on wood flooring. METHODS: Forty-two healthy subjects were recruited for this study, and were asked to walk on carpeting and wood flooring for 10 min each. Their electroencephalogram (EEG) and skin impedance values were measured for each task. RESULTS: The α-wave content percentage in EEG data and skin impedance values were significantly higher just after walking on carpet than just after walking on wood flooring. CONCLUSION: Walking on carpeting induces less stress than walking on wood flooring.

Genetic polymorphism of CYP2A6 gene and tobacco-induced lung cancer risk in male smokers.

Cytochrome P450 2A6 (CYP2A6) is the principal enzyme involved in the metabolic activation of tobacco-specific nitrosamines to their ultimate carcinogenic forms and metabolism of nicotine. We investigated the effects of the CYP2A6*4, an entire CYP2A6 gene deletion-type polymorphism, on lung cancer risk and daily cigarette consumption in Japanese male smokers via a hospital-based case control study. The frequency of the CYP2A6*4 variant was compared in 370 lung cancer patients and 380 control smokers. A markedly reduced adjusted odds ratio for lung cancer risk, 0.23 [95% confidence interval, 0.08-0.67], was seen in the group with homozygous deletion (*4/*4) when the odds ratio for a group with homozygous wild (*1A/*1A) was defined to be 1.00 by logistic regression. The subjects with lung cancer were additionally divided into three groups according to the histological classification of the cancer and examined for an association with the CYP2A6 polymorphism. The *4/*4 genotype was not found in patients with squamous cell carcinoma (0 of 105) or small cell carcinoma (0 of 44), indicating that subjects with the *4/*4 genotype have low risk for lung cancers, particularly those caused by tobacco smoke. Furthermore, a significant reduction of daily cigarette consumption was observed in smokers with the *4/*4 genotype, suggesting a possibility that complete lack of CYP2A6 appeared to affect the smoking behavior. These data suggest that male smokers possessing the *1A/*1A genotype have higher risk for tobacco-induced lung cancers.

Doctor-patient communication: a comparison between telemedicine consultation and face-to-face consultation.

OBJECTIVE: The objective of this study was to compare doctor-patient communications in clinical consultations via telemedicine technology to doctor-patient communications in face-to-face clinical consultations. METHOD: Five doctors who had been practicing internal medicine for 8 to 18 years, and twenty patients were enrolled in this study; neither doctors nor patients had previous experience of telemedicine. The patients received both a telemedicine consultation and a face-to-face consultation. Three measures--video observation, medical record volume, and participants' satisfaction--were used for the assessment. RESULTS: It was found that the time spent on the telemedicine consultation was substantially longer than the time spent on the face-to-face consultation. No statistically significant differences were found in the number of either closed or open-ended questions asked by doctors between both types of consultation. Empathy-utterances, praise-utterances, and facilitation-utterances were, however, seen less in the telemedicine consultations than in the face-to-face consultations. The volume of the medical records was statistically smaller in the telemedicine consultations than in the face-to-face consultations. Patients were satisfied with the telemedicine consultation, but doctors were dissatisfied with it and felt hampered by the communication barriers. CONCLUSIONS: This study suggests that new training programs are needed for doctors to develop improved communication skills and the ability to express empathy in telemedicine consultations.

Appropriate cut-off value of 13C-urea breath test after eradication of Helicobacter pylori infection in Japan.

BACKGROUND AND AIM: A cut-off value of 2.5 per thousand for the 13C-urea breath test (UBT) is recommended in Japanese persons, based on the result of a multicenter trial in patients prior to treatment for eradication of Helicobacter pylori. The cut-off value of 2.5 per thousand has also been used in the assessment of eradication after treatment. The 6-8-week evaluation after treatment is recommended in the guidelines of the Japanese Society of Gastroenterology. The present study aimed to prospectively re-assess the cut-off value of the 13C-UBT at 6 weeks after treatment by using the results obtained at 6 months as an indication of true positive or true negative H. pylori infection status. METHODS: One hundred and ninety patients who were positive for H. pylori underwent eradication treatment, and 177 patients of these patients who were assessed as having true positive or true negative H. pylori status at 6 months after treatment were evaluated in this study. Eradication was assessed by 13C-UBT, culture, and histology at 6 weeks and at 6 months after treatment, and the cut-off value of 13C-UBT at 6 weeks was re-assessed. RESULTS: A cut-off value of 3.5 per thousand. at 6 weeks after treatment showed 97.2% diagnostic accuracy, while a cut-off value of 2.5 per thousand at 6 weeks showed 96.0% diagnostic accuracy. For a 3.5 per thousand cut-off value, only five patients were positive by 13C-UBT and were negative by culture and histology at 6 weeks, and three patients were true positive and two were false positive by the 13C-UBT at 6 months. CONCLUSION: A cut-off value of 3.5 per thousand for the 13C-UBT is recommended at 6 weeks after eradication treatment in Japanese persons.