Prenatal diagnosis of severe mitochondrial diseases caused by nuclear gene defects: a study in Japan

Prenatal diagnoses of mitochondrial diseases caused by defects in nuclear DNA (nDNA) or mitochondrial DNA have been reported in several countries except for Japan. The present study aimed to clarify the status of prenatal genetic diagnosis of mitochondrial diseases caused by nDNA defects in Japan. A comprehensive genomic analysis was performed to diagnose more than 400 patients, of which, 13 families (16 cases) had requested prenatal diagnoses. Eight cases diagnosed with wild type homozygous or heterozygous variants same as either of the heterozygous parents continued the pregnancy and delivered healthy babies. Another eight cases were diagnosed with homozygous, compound heterozygous, or hemizygous variants same as the proband. Of these, seven families chose to terminate the pregnancy, while one decided to continue the pregnancy. Neonatal- or infantile-onset mitochondrial diseases show severe phenotypes and lead to lethality. Therefore, such diseases could be candidates for prenatal diagnosis with careful genetic counseling, and prenatal testing could be a viable option for families

Prevention of hypoglycemia by intermittent-scanning continuous glucose monitoring device combined with structured education in patients with type 1 diabetes mellitus : A randomized, crossover trial

Aims: We conducted a randomized, crossover trial to compare intermittent-scanning continuous glucose monitoring (isCGM) device with structured education (Intervention) to self-monitoring of blood glucose (SMBG) (Control) in the reduction of time below range. Methods: This crossover trial involved 104 adults with type 1 diabetes mellitus (T1DM) using multiple daily injections. Participants were randomly allocated to either sequence Intervention/Control or sequence Control/Intervention. During the Intervention period which lasted 84 days, participants used the first-generation FreeStyle Libre (Abbott Diabetes Care, Alameda, CA, USA) and received structured education on how to prevent hypoglycemia based on the trend arrow and by frequent sensor scanning (≥10 times a day). Confirmatory SMBG was conducted before dosing insulin. The Control period lasted 84 days. The primary endpoint was the decrease in the time below range (TBR; <70 mg/dL). Results: The time below range was significantly reduced in the Intervention arm compared to the Control arm (2.42 ± 1.68 h/day [10.1 %±7.0 %] vs 3.10 ± 2.28 h/day [12.9 %±9.5 %], P = 0.012). The ratio of high-risk participants with low blood glucose index >5 was significantly reduced (8.6 % vs 23.7 %, P < 0.001). Conclusions: The use of isCGM combined with structured education significantly reduced the time below range in patients with T1DM

Individual, psychosocial, and environmental correlates of 4-year declines in walking among middle-to-older aged adults

Background: We examined associations of individual, psychosocial and environmental characteristics with 4-year changes in walking among middle-to-older aged adults; few such studies have employed prospective designs.Methods: Walking for transport and walking for recreation were assessed during 2003-2004 (baseline) and 2007-2008 (follow-up) among 445 adults aged 50-65 years residing in Adelaide, Australia. Logistic regression analyses examined predictors of being in the highest quintile of decline in walking (21.4 minutes/day or more reduction in walking for transport; 18.6 minutes/day or more reduction in walking for recreation).Results: Declines in walking for transport were related to higher level of walking at baseline, low perceived benefits of activity, low family social support, a medium level of social interaction, low sense of community, and higher neighborhood walkability. Declines in walking for recreation were related to higher level of walking at baseline, low self-efficacy for activity, low family social support, and a medium level of available walking facilities.Conclusions: Declines in middle-to-older aged adults' walking for transport and walking for recreation have differing personal, psychosocial and built-environment correlates, for which particular preventive strategies may be developed. Targeted campaigns, community-based programs, and environmental and policy initiatives can be informed by these findings

High neighborhood walkability mitigates declines in middle-to-older aged adults' walking for transport

Background: Neighborhood walkability shows significant positive relationship with residents' walking for transport in cross-sectional studies. We examined prospective relationships of neighborhood walkability with the change in walking behaviors over 4 years among middle-to-older aged adults (50-65 years) residing in Adelaide, Australia. Methods: A baseline survey was conducted during 2003-2004, and a follow-up survey during 2007-2008. Walking for transport and walking for recreation were assessed at both times among 504 adults aged 50-65 years living in objectively determined high- and low-walkable neighborhoods. Multilevel linear regression analyses examined the associations of neighborhood walkability with changes over 4 years in walking for transport and walking for recreation. Results: On average, participants decreased their time spent in walking for transport (-4.1 min/day) and for recreation (-3.7 min/day) between the baseline and 4-year follow-up. However, those living in high-walkable neighborhoods showed significantly smaller reduction (adjusted mean change: -1.1 min/day) in their time spent in walking for transport than did those living in low-walkable neighborhoods (-6.7 min/day). No such statistically-significant differences were found with the changes in walking for recreation. Conclusions: High-walkable neighborhoods may help middle-to-older aged adults to maintain their walking for transport

Intestinal Undifferentiated Carcinoma in a Red-Crowned Crane (Grus japonensis)

A 33-year-old red-crowned crane (Grus japonensis) had a diffuse intestinal thickening from the duodenum to colon. Microscopically, neoplastic cells were arranged in sheets and occasionally nests or cords without gland or squamous differentiation. Metastatic tumor cells were found in the lungs, heart, kidneys and adrenal glands. Immunohistochemically, the neoplastic cells were strongly positive for pan-cytokeratin and cytokeratin 8 and 18 and only partly positive for E-cadherin antibodies. Immunostaining for CD3 was positive in normal lymphocytes, and NSE was also positive in normal nerve fibers. But, the neoplastic cells were not immunoreactive to CD3 and NSE. Based on the histological features and the epithelial characteristics in the immunohistochemical stain, the present case was diagnosed as undifferentiated carcinoma originating from the intestine. Interestingly, the neoplastic cells showed a unique growth pattern; they never invaded the submucosa or muscularis throughout the intestine, whereas they spread lymphogenously or hematogenously to other organs