Synchronous bilateral pheochromocytomas and paraganglioma with novel germline mutation in MAX: a case report

BackgroundRecent advance of genetic testing has contributed to the diagnosis of hereditary pheochromocytoma and paraganglioma (PPGL). The clinical characteristics of hereditary PPGL are varying among the types of mutational genes. It is still difficult to specify the pathognomonic symptoms in the case of rare genetic mutations. Here, we report the case of synchronous bilateral pheochromocytomas and paraganglioma with novel MYC associated factor X (MAX) gene mutation.Case presentationA 24-year-old female had hyperhidrosis and hypertension. Her urine test showed high normetanephrine and vanillylmandelic acid. Enhanced computed tomography revealed three enhanced masses in right adrenal gland, left adrenal gland, and left renal hilus. She was diagnosed with PPGL. Because 123I-metaiodobenzylguanidine scintigraphy indicated the accumulations in the left adrenal gland mass and the left renal hilus mass and not in the right adrenal gland mass, we performed laparoscopic left adrenalectomy and extirpation of the left renal hilus mass to preserve the right adrenocortical function. However, her symptoms recurred shortly after the operation presumably due to unveiling of the activity of the right pheochromocytoma. Following right adrenalectomy as the second operation, the catecholamine levels declined to normal range. Her genetic testing indicated the novel germline mutation in MAX gene (c.70_73 del AAAC/p.Lys24fs*40).ConclusionsMAX germline mutation is recently identified as a rare cause of hereditary PPGL. The deletion mutation in MAX gene in this patient has never reported before. In the case of bilateral pheochromocytomas, the surgical indication should be decided considering each patient’s genetic background. Due to the possibility for other types of malignant tumors, close follow-up is essential for MAX mutation carriers

Molecular database for classifying Shorea species (Dipterocarpaceae) and techniques for checking the legitimacy of timber and wood products

The extent of tropical forest has been declining, due to over-exploitation and illegal logging activities. Large quantities of unlawfully extracted timber and other wood products have been exported, mainly to developed countries. As part of the export monitoring effort, we have developed methods for extracting and analyzing DNA from wood products, such as veneers and sawn timbers made from dipterocarps, in order to identify the species from which they originated. We have also developed a chloroplast DNA database for classifying Shorea species, which are both ecologically and commercially important canopy tree species in the forests of Southeast Asia. We are able to determine the candidate species of wood samples, based on DNA sequences and anatomical data. The methods for analyzing DNA from dipterocarp wood products may have strong deterrent effects on international trade of illegitimate dipterocarp products. However, the method for analyzing DNA from wood is not perfect for all wood products and need for more improvement, especially for plywood sample. Consequently, there may be benefits for the conservation of tropical forests in Southeast Asia. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (doi:10.1007/s10265-010-0348-z) contains supplementary material, which is available to authorized users

Lifestyle Habits Adjustment for Hypertension and Discontinuation of Antihypertensive Agents

Background: Hypertension is one of lifestyle-related diseases, and prevention and effect of reduction pressure can be expected by non-pharmacological interventions. Authors have continued guidance of adjustment for lifestyle to thousands of hypertensive patients, resulting 4.6%-6.1% case could discontinue hypertensive agents. This study enrolled patients with all necessary related data. Subjects and methods: Subjects were 50 patients with hypertension (M/F: 25/25, age 65.4 ± 8.6 vs. 53.4 ± 6.2 years, BMI 23.4 ± 2.7 vs. 22.3 ± 2.5, respectively), who could discontinued antihypertensive agents. They received consultation and intervention from registered dietitian nutritionists, exercise therapists and nurses. Results: The comparative results on males and females are as follows: smoking habit was 76% vs. 0%, alcohol intake was 60% vs. 0%, diabetes complication was 16% vs. 8%, and hyperlipidemia was 32% vs. 52%, respectively. These cases showed rare to none incidence of cerebral vascular accident (CVA), coronary heart disease (CHD) and chronic kidney disease (CKD). Consultations in median were 4.0 vs. 4.0 times, median weight reduction was 2.2 kg vs. 1.6 kg and median period withdrawal of the drug was 2.0 years vs. 2.5 years. Discussion and conclusion: When living adjustment is advised, blood pressure decreases due to behavior change. Our results suggest that these cases have less arteriosclerosis development, which enables withdrawal of medicine. It is necessary to carefully observe the progress whether the antihypertensive drug will be unnecessary or will be restarted. Current results obtained would become the fundamental data in the future, and the adjustment for diet and exercise would be useful for more adequate treatment for hypertension

The Asia‐Pacific Biodiversity Observation Network : 10‐year achievements and new strategies to 2030.

The Asia-Pacific Biodiversity Observation Network (APBON) was launched in 2009, in response to the establishment of the Biodiversity Observation Network under the Group on Earth Observations in 2008. APBON's mission is to increase exchange of knowledge and know-how between institutions and researchers concerning biodiversity science research in the Asia-Pacific (AP) region and thereby contribute to evidence-based decision-making and policy-making. Here we summarize APBON activities and achievements in its first 10 years. We review how APBON has developed networks, facilitated communication for sharing knowledge, and built capacity of researchers and stakeholders through workshops and publications as well as discuss the network plan. Key findings by APBON members include descriptions of species new to science, mapping tropical forest cover change, evaluating impacts of hydropower dams and climate change on fish species diversity in the Mekong, and mapping “Ecologically and Biologically Significant Areas” in the oceans. APBON has also contributed to data collection, sharing, analysis, and synthesis for regional and global biodiversity assessment. A highlight was contributing to the “Intergovernmental Science-Policy Platform on Biodiversity and Ecosystem Services” regional report. New strategic plans target the development of national-level BONs and interdisciplinary research to address the data and knowledge gaps and increase data accessibility for users and for meeting societal demands. Strengthening networks in AP region and capacity building through APBON meetings will continue. By promoting monitoring and scientific research and facilitating the dialogue with scientists and policymakers, APBON will contribute to the implementation of conservation and sustainable use of biodiversity in the entire AP region.publishedVersio

In Situ Enzyme Activity in the Dissolved and Particulate Fraction of the Fluid from Four Pitcher Plant Species of the Genus Nepenthes

The genus Nepenthes, a carnivorous plant, has a pitcher to trap insects and digest them in the contained fluid to gain nutrient. A distinctive character of the pitcher fluid is the digestive enzyme activity that may be derived from plants and dwelling microbes. However, little is known about in situ digestive enzymes in the fluid. Here we examined the pitcher fluid from four species of Nepenthes. High bacterial density was observed within the fluids, ranging from 7×106 to 2.2×108 cells ml−1. We measured the activity of three common enzymes in the fluid: acid phosphatases, β-d-glucosidases, and β-d-glucosaminidases. All the tested enzymes detected in the liquid of all the pitcher species showed activity that considerably exceeded that observed in aquatic environments such as freshwater, seawater, and sediment. Our results indicate that high enzyme activity within a pitcher could assist in the rapid decomposition of prey to maximize efficient nutrient use. In addition, we filtered the fluid to distinguish between dissolved enzyme activity and particle-bound activity. As a result, filtration treatment significantly decreased the activity in all enzymes, while pH value and Nepenthes species did not affect the enzyme activity. It suggested that enzymes bound to bacteria and other organic particles also would significantly contribute to the total enzyme activity of the fluid. Since organic particles are themselves usually colonized by attached and highly active bacteria, it is possible that microbe-derived enzymes also play an important role in nutrient recycling within the fluid and affect the metabolism of the Nepenthes pitcher plant

Brain Training Game Improves Executive Functions and Processing Speed in the Elderly: A Randomized Controlled Trial

The beneficial effects of brain training games are expected to transfer to other cognitive functions, but these beneficial effects are poorly understood. Here we investigate the impact of the brain training game (Brain Age) on cognitive functions in the elderly.Thirty-two elderly volunteers were recruited through an advertisement in the local newspaper and randomly assigned to either of two game groups (Brain Age, Tetris). This study was completed by 14 of the 16 members in the Brain Age group and 14 of the 16 members in the Tetris group. To maximize the benefit of the interventions, all participants were non-gamers who reported playing less than one hour of video games per week over the past 2 years. Participants in both the Brain Age and the Tetris groups played their game for about 15 minutes per day, at least 5 days per week, for 4 weeks. Each group played for a total of about 20 days. Measures of the cognitive functions were conducted before and after training. Measures of the cognitive functions fell into four categories (global cognitive status, executive functions, attention, and processing speed). Results showed that the effects of the brain training game were transferred to executive functions and to processing speed. However, the brain training game showed no transfer effect on any global cognitive status nor attention.Our results showed that playing Brain Age for 4 weeks could lead to improve cognitive functions (executive functions and processing speed) in the elderly. This result indicated that there is a possibility which the elderly could improve executive functions and processing speed in short term training. The results need replication in large samples. Long-term effects and relevance for every-day functioning remain uncertain as yet.UMIN Clinical Trial Registry 000002825

フタバガキカ 4シュ ニ オケル シュシ カフン サンプ ノ セイタイテキ イデンテキ イギ

京都大学0048新制・課程博士博士(理学)甲第12161号理博第3055号新制||理||1455(附属図書館)23997UT51-2006-J154京都大学大学院理学研究科生物科学専攻(主査)助教授 酒井 章子, 助教授 村上 哲明, 教授 北山 兼弘学位規則第4条第1項該当Doctor of ScienceKyoto UniversityDA