ABSTRACT
OBJECTIVE: The autism susceptibility candidate 2 (AUTS2) gene has been implicated in multiple neurological disorders. Several recent studies have revealed that the polymorphism rs6943555 in the AUTS2 gene is broadly associated with human mental function and behavior. Therefore, in the present study we investigated whether the polymorphism rs6943555 is associated with human personality traits in Japanese university students. In addition, our previous study reported that the AUTS2 rs6943555-rs9886351 haplotype is associated with alcohol dependence. As a preliminary analysis, we also examined whether the AUTS2 haplotypes are related to personality traits. METHODS: After written informed consent had been obtained from the participants, two AUTS2 polymorphisms were analyzed, and personality was assessed using the Temperament and Character Inventory (TCI) in 190 university students. In addition, in order to exclude the influence of the results for students with mental health problems, we gave the Patient Health Questionnaire-9 (PHQ-9) to all subjects. RESULTS: In all the subjects, there was a main effect of the polymorphism rs6943555 genotype on reward dependence (p=0.038) and cooperativeness (p=0.031), although the significance was lost on Bonferroni correction. Similarly, on analysis that excluded the subjects with PHQ-9 scores≥10, no significant association with any TCI dimension score among the rs6943555 genotypes was seen. There was no effect of the rs6943555-rs9886351 haplotypes on the TCI dimension scores. CONCLUSION: This study suggests that the polymorphism AUTS2 rs6943555 is not associated with personality traits. Further large-scale studies with more subjects using other self-report questionnaires are needed.
Subject(s)
Humans , Alcoholism , Asian People , Autistic Disorder , Genotype , Haplotypes , Informed Consent , Mental Health , Nervous System Diseases , Reward , TemperamentABSTRACT
OBJECTIVE: Norepinephrine is an important chemical messenger that is involved in mood and stress in humans, and is reabsorbed by the norepinephrine transporter (NET). According to Cloninger's theory, the noradrenergic system mediates the personality trait of reward dependence. Thus far, although association studies on NET gene polymorphisms and Cloninger's personality traits have been reported, they yielded inconsistent results. Therefore, in the present study we investigated whether or not the 1287G/A, -182T/C and -3081A/T polymorphisms of the NET gene (SLC6A2) are associated with reward dependence-related traits, as assessed by the five-factor model. METHODS: After written informed consent was obtained from participants, the three NET gene polymorphisms were analyzed by polymerase chain reaction (PCR)-restriction fragment length polymorphism (RFLP), and personality was assessed by the Neuroticism Extraversion Openness-Five Factor Inventory (NEO-FFI) in 270 Japanese university students. RESULTS: A significant relation was found between the -3081A/T functional promoter polymorphism and NEO-FFI scores: those with the T allele exhibited a lower extraversion (E) score than those without the T allele (Mann-Whitney U-test: z=-3.861, p<0.001). However, there was no correlation between the other NET gene polymorphisms and E score, and no association with other dimensions and these three polymorphisms. CONCLUSION: We conclude that the -3081A/T functional polymorphism in the NET gene may affect the extraversion of reward dependence-related traits, as measured by NEO-FFI. However, we used only the shortened version of NEO-PI-R in this study. Further investigations are necessary using the full version of self-rating personality questionnaires.
Subject(s)
Humans , Alleles , Asian People , Extraversion, Psychological , Informed Consent , Norepinephrine , Norepinephrine Plasma Membrane Transport Proteins , Polymerase Chain Reaction , Surveys and Questionnaires , RewardABSTRACT
A 78-year-old woman complaining of suddenly developed numbness and coldness of the left hand was referred to our hospital on the suspicion of embolism. A 2×1cm mass was revealed in the fossa ovalis of the interatrial septum by echocardiography. She underwent operation under a preoperative diagnosis of thrombus in the left atrium or tumor of the interatrial septum. In the operation, the mass was excised including the interatrial septum and the defect of the interatrial septum was closed with a PTFE patch. A sagittal section of the mass showed that it was a fresh thrombus covered with normal endocardium of the fossa ovalis except for a small protrusion to the left atrial cavity. These findings yielded diagnosis of thrombus trapped in a patent foramen ovale. She was discharged after an uneventful postoperative course, although temporary pacing was needed for transient bradycardia in the early postoperative days. In this case, we hypothesize that an unidentified venous thrombus trapped in a patent foramen ovale had partly passed through the interatrial septum and caused paradoxical embolism in the left hand. Paradoxical embolism is a well-known phenomenon described in a number of reports. There are some reports of a trapped thrombus in a patent foramen ovale detected by echocardiography or in autopsy. We describe a rare case of surgical demonstration of a trapped thrombus in a patent foramen ovale, and recommend that examinations for venous thrombus with a suspicion of paradoxical embolism are necessary for patients of thromboembolism.
ABSTRACT
A 75-year-old man was admitted complaining of sudden bilateral foot coldness and numbness. The patient had undergone endovascular repair for abdominal aortic aneurysm (AAA) 5 years previously. Abdominal X-ray showed a highly kinked endovascular stent-graft, and aortography revealed occlusion of the stent-graft and infrarenal aorta. Emergency axillo-bifemoral bypass was performed to restore the blood flow of the lower extremities, and he recovered uneventfully. Endovascular repair for AAA can be performed with low mortality and morbidity, and is accepted worldwide as a minimally invasive treatment. However, there are several late complications, such as newly developed endoleak, graft migration, graft occlusion, AAA expansion, and AAA rupture. Therefore, great attention should be paid to following patients treated with endovascular procedures for abdominal aortic aneurysm.
ABSTRACT
From 1995 till 1998, 21 cases of Stanford type A dissecting aortic aneurysm with a closed false lumen of the ascending aorta were treated in our institute. The patients were medically treated if the diameter of their ascending aorta stayed less than 50mm without recurrent dissection. Patients were categorized into three groups: Groups I, II and IIIR (retrograde dissection), according to the location of the entry analyzed by means of CT, angiography and operative findings. Seven cases of intramural hematoma (IMH) were included in this study. One case in Group II died of rupture and one case in Group IIIR died of multiple embolism caused by atrial fibrillation in the acute phase. One case in Group II died of stroke and one case in Group I died after surgery in the chronic phase. Four cases in Group I and II underwent surgery in the acute phase and five cases in Group I and II underwent surgery in the chronic phase, but only one case of Group IIIR required surgery. Six cases of IMH required surgery. The rates of freedom from operation at four years was 25%, 21% and 83% respectively (<i>p</i>=0.07). Essentially, Stanford type A dissection should be treated surgically even though the false lumen is thrombosed. However, in the case of retrograde dissection accompanied by an entry in the descending aorta, medical treatment may be a strategy option.
ABSTRACT
A 36-year-old man was transported to our hospital with severe anterior chest and abdominal pain of sudden onset which was diagnosed as Stanford type B acute aortic dissection with visceral ischemia. Aortogram revealed occlusion of celiac, superior mesenteric and inferior mesenteric arteries with aortic dissection. At first, fenestration of the abdominal aorta above the inferior mesenteric artery was immediately carried out, but the abdominal pain continued. Therefore, bypass grafting for the superior mesenteric artery with saphenous vein was performed the next day. The patient's postoperative course was complicated with acute renal failure and paralytic ileus, which were treated medically and he was discharged in good condition.