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

Objective: Repeated guidance through specific health guidance (SHG), a service that provides health advice to high-risk individuals for specific health examinations, may be affected by examinees’ mental health status. However, the association between repeated SHG sessions and mental health remains unclear.Materials and Methods: Data were collected from 123 men and women who underwent specific health checkups at Jiaikai Izuro Imamura Hospital between April 13, 2021 and April 13, 2022 after receiving SHG in the previous year. A questionnaire survey was conducted to assess burnout, resilience, and lifestyle-related factors such as weight change and the amount of alcohol consumed. Odds ratios (OR) and 95% confidence intervals (CI) for repeated SHG were estimated using stepwise multiple logistic and mediation analyses.Results: The results showed that repeated SHG was significantly associated with weight gain ≥10 kg from the age of 20 years (OR=4.41, 95% CI 1.74–11.20) and burnout subscale of cynicism (OR=4.18, 95% CI 1.31–13.33).Conclusion: Weight loss guidance could be an effective component of SHG. Additionally, individuals who are repeatedly provided with SHG experience a mental health burden. Furthermore, interventions to reduce cynicism may be necessary to prevent the need for repeated SHG.

Purpose: This study aimed to investigate the current status and related factors of End of Life discussions between heart failure patients and medical professionals. Method: We conducted a survey of medical records of patients who died between April 2015 and March 2020 in the Department of Cardiology, Kyoto University Hospital. We examined the presence or absence of discussions about prognosis and end-of-life care and their associated factors. Result: Of the 109 patients, prognosis was explained to 40 (36.7%) and discussion of end-of-life care was provided to 25 (22.9%). Age (younger), number of hospitalizations, palliative care team intervention, and end-of-life care discussions were associated with the prognostic explanations. Gender (male), number of hospitalizations, history of heart failure hospitalization, palliative care team intervention, and prognosis explanation were associated with the end-of-life care discussions. Conclusion: The study suggested that End of Life discussions in heart failure patients are currently focused on patients with severe and end-stage heart failure.