There are few reports on the long term efficacy of surgery for endocardial cushion defect (ECD) in elderly patients. We report a case with a successful course after ECD operation. A 70-year-old man was admitted with incomplete ECD, grade III mitral and tricuspid regurgitation, pulmonary hypertension and atrial fibrillation. The operative procedures included direct closure of the mitral cleft, pericardial patch closure for the ostium primum defect, direct closure of the tricuspid cleft and tricuspid annuloplasty. Pulmonary hypertension was improved after the operation, and he was discharged on the 41st day after the operation. Now, 3 years and 6 months after the operation, he has maintained an improved quality of life (QOL) with an uneventful postoperative course. The present report may suggest one solution for the long term effective treatment by operation for elderly patients who suffer from ECD, especially to achieve better QOL.

The early and mid-term survival after thoracic aortic surgery and the influence of age on operative mortality were examined in 93 consecutive patients from August 1994 to June 1999, together with assessment of postoperative quality of life (QOL). The mean age was 63.8±11.6 years old (range 26 to 84 years) and 65 patients were male. Aneurysms were atherosclerotic in 43 patients and aortic dissection was present in 50. Forty-eight (52%) required emergency operation. Operative procedures consisted of ascending aorta or hemiarch replacement in 23 patients, Bentall's operation was performed in 4, total arch replacement in 31, distal arch replacement in 9, descending aorta replacement in 13, replacement of the thoracoabdominal aorta in 6, and patch repair in 7. These patients were divided into two groups: the under 70 group (Y group, n=61) and the 70 or older group (O group, n=32). Current QOL of the survivors was assessed using the Asanoi method with a mailed questionnaire. There were 13 early deaths (14%). There were 10 late deaths (5.6%/P-Y (Patients-Years)). The actuarial survival rate of the Y group was significantly higher than that of the O group (p=0.0412). Perioperative stroke was seen in 11% of the Y group and 16% of the O group. These patients had a high mortality rate (Y group 43%, O group 100%) during early and long term follow-up periods. The postoperative NYHA category and exercise ability of the O group were better than those of the Y group. We obtained satisfactory answers concerning the results of operation in the majority of current survivors. Patients aged 70 years and older could undergo thoracic aortic surgery with reasonable risk. QOL following operation was satisfactory except in patients with merged perioperative stroke.

BACKGROUND: Leber's hereditary optic neuropathy (LHON) is a mitochondrial disorder with optic nerve atrophy. Although there are no other associated neurological abnormalities in most cases of LHON, cases of "LHON plus" have been reported. CASE REPORT: The proband was a 37-year-old man who had visual and gait disturbances that had first appeared at 10 years of age. He showed horizontal gaze palsy, gaze-evoked nystagmus, dysarthria, and cerebellar ataxia. Brain and orbit MRI disclosed atrophy of the optic nerve and cerebellum, and degenerative changes in the bilateral inferior olivary nucleus. Mutational analyses of mitochondrial DNA identified the coexistence of heteroplasmic G11778A and homoplasmic T3394C mutations. CONCLUSIONS: These results suggest that the combination of G11778A and T3394C mutations leads to an atypical LHON phenotype.
Adult ; Atrophy ; Brain ; Cerebellar Ataxia ; Cerebellum ; DNA, Mitochondrial ; Dysarthria ; Gait ; Humans ; Mitochondria ; Mitochondrial Diseases ; Olivary Nucleus ; Optic Atrophy, Hereditary, Leber ; Optic Nerve ; Orbit ; Paralysis ; Phenotype

BACKGROUND: The burden of dementia is growing rapidly and has become a medical and social problem in Japan. Prospective cohort studies have been considered an effective methodology to clarify the risk factors and the etiology of dementia. We aimed to perform a large-scale dementia cohort study to elucidate environmental and genetic risk factors for dementia, as well as their interaction. METHODS: The Japan Prospective Studies Collaboration for Aging and Dementia (JPSC-AD) is a multisite, population-based prospective cohort study of dementia, which was designed to enroll approximately 10,000 community-dwelling residents aged 65 years or older from 8 sites in Japan and to follow them up prospectively for at least 5 years. Baseline exposure data, including lifestyles, medical information, diets, physical activities, blood pressure, cognitive function, blood test, brain magnetic resonance imaging (MRI), and DNA samples, were collected with a pre-specified protocol and standardized measurement methods. The primary outcome was the development of dementia and its subtypes. The diagnosis of dementia was adjudicated by an endpoint adjudication committee using standard criteria and clinical information according to the Diagnostic and Statistical Manual of Mental Disorders, 3rd Revised Edition. For brain MRI, three-dimensional acquisition of T1-weighted images was performed. Individual participant data were pooled for data analyses. RESULTS: The baseline survey was conducted from 2016 to 2018. The follow-up surveys are ongoing. A total of 11,410 individuals aged 65 years or older participated in the study. The mean age was 74.4 years, and 41.9% were male. The prevalence of dementia at baseline was 8.5% in overall participants. However, it was 16.4% among three sites where additional home visit and/or nursing home visit surveys were performed. Approximately two-thirds of dementia cases at baseline were Alzheimer's disease. CONCLUSIONS The prospective cohort data from the JPSC-AD will provide valuable insights regarding the risk factors and etiology of dementia as well as for the development of predictive models and diagnostic markers for the future onset of dementia. The findings of this study will improve our understanding of dementia and provide helpful information to establish effective preventive strategies for dementia in Japan.
Aged ; Alzheimer Disease/genetics* ; Dementia/genetics* ; Environment ; Female ; Humans ; Incidence ; Japan/epidemiology* ; Male ; Middle Aged ; Prevalence ; Prospective Studies ; Risk Factors