著者

Shohei AKAGAWA Yuko AKAGAWA Sohsaku YAMANOUCHI Takahisa KIMATA Shoji TSUJI Kazunari KANEKO

出版者

BMFH Press

雑誌

Bioscience of Microbiota, Food and Health (ISSN:21863342)

巻号頁・発行日

vol.40, no.1, pp.12-18, 2021 (Released:2021-01-08)

参考文献数

65

被引用文献数

10

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The gut microbiota resides in the human gastrointestinal tract, where it plays an important role in maintaining host health. Recent advancements in next-generation sequencing methods have revealed the link between dysbiosis (imbalance of the normal gut microbiota) and several diseases, as this imbalance can disrupt the symbiotic relationship between the host and associated microbes. Establishment of the gut microbiota starts in utero or just after birth, and its composition dramatically changes to an adult-like composition by 3 years of age. Because dysbiosis during childhood may persist through adulthood, it is crucial to acquire a balanced gut microbiota in childhood. Therefore, current studies have focused on the factors affecting the infant gut microbiota. This review discusses recent findings, including those from our studies, on how various factors, including the delivery mode, feeding type, and administration of drugs, including antibiotics, can influence the infant gut microbiota. Here, we also address future approaches for the prevention and restoration of dysbiosis in children.

著者

Nanaka Yamaguchi Tatsuo Mano Ryo Ohtomo Hiroyuki Ishiura M. Asem Almansour Harushi Mori Junko Kanda Yuichiro Shirota Kenichiro Taira Teppei Morikawa Masako Ikemura Yasuo Yanagi Shigeo Murayama Jun Shimizu Yasuhisa Sakurai Shoji Tsuji Atsushi Iwata

出版者

The Japanese Society of Internal Medicine

雑誌

Internal Medicine (ISSN:09182918)

巻号頁・発行日

vol.57, no.23, pp.3459-3462, 2018-12-01 (Released:2018-12-01)

参考文献数

10

被引用文献数

6 20

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Neuronal intranuclear inclusion disease (NIID) is a rare neurodegenerative disease with marked variety in its clinical manifestations. While characteristic neuroimaging and skin biopsy findings are important clues to the diagnosis, autopsy studies are still important for confirming the exact disease features. We herein report the case of a patient who received an antemortem diagnosis of familial NIID with dementia-dominant phenotype that was later confirmed by an autopsy. Our report is the first to document a case of autopsy-confirmed NIID involving both cognitive impairment and sensorimotor neuropathy.

著者

Akatsuki Kubota Hiroyuki Ishiura Jun Mitsui Kaori Sakuishi Atsushi Iwata Tomotaka Yamamoto Ichizo Nishino Shoji Tsuji Jun Shimizu

出版者

The Japanese Society of Internal Medicine

雑誌

Internal Medicine (ISSN:09182918)

巻号頁・発行日

pp.9588-17, (Released:2017-12-08)

参考文献数

24

被引用文献数

6

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A complete loss of merosin, which is encoded by LAMA2, causes congenital muscular dystrophy with leukoencephalopathy. Partial merosin deficiency can be caused not only by primarily LAMA2 mutations, but also secondarily by dystroglycanopathy. Although it can be molecularly diagnosed based on a genetic analysis, this method is labor-intensive because of its huge genome size. A 26-year-old male patient presented with mild muscular weakness, joint contractures, and epilepsy. Double immunofluorescence staining of a muscle biopsy specimen showed mislocalization of merosin, and a genetic analysis revealed a homozygous c.818G>A (p.Arg273Lys) mutation in LAMA2. Double immunofluorescence staining and whole exome sequencing were useful for the diagnosis of partial merosin deficiency.