Jove
Visualize
お問い合わせ
JoVE
x logofacebook logolinkedin logoyoutube logo
JoVEについて
概要リーダーシップブログJoVEヘルプセンター
著者向け
出版プロセス編集委員会範囲と方針査読よくある質問投稿
図書館員向け
推薦の声購読アクセスリソース図書館諮問委員会よくある質問
研究
JoVE JournalMethods CollectionsJoVE Encyclopedia of Experimentsアーカイブ
教育
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab Manual教員リソースセンター教員サイト
利用規約
プライバシーポリシー
ポリシー

関連する概念動画

Infection01:20

Infection

11.6K
When a pathogen enters the body and reproduces, it can cause an infection, damage body cells, and cause illness symptoms that eventually lead to disease. Therefore, its prevention requires breaking the chain of infection.
The chain begins with pathogens: bacteria, viruses, fungi, prions, or parasites such as protozoa helminths. These can be present on the skin as transient or resident flora, or they can be acquired from the environment. Identifying and treating the type of infection and...
11.6K
Urinary Tract Infection II: Pathophysiology01:25

Urinary Tract Infection II: Pathophysiology

524
The pathophysiology of urinary tract infections (UTIs) encompasses several progressive stages, beginning with bacterial colonization and culminating in potential systemic complications if untreated. UTIs are primarily initiated by bacteria, such as Escherichia coli, which often originate from the gastrointestinal tract and migrate to the urinary system through the periurethral area. This migration can occur via several routes, including improper hygiene practices, sexual activity, or...
524
Cystic Fibrosis: Pathogenesis01:23

Cystic Fibrosis: Pathogenesis

676
Cystic fibrosis (CF), an autosomal recessive disorder, significantly affects the function of exocrine glands. This genetically inherited disease is characterized by the production of thick and sticky mucus, which can severely affect various organs and systems in the body.
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation,...
676
Pneumonia II: Pathophysiology01:29

Pneumonia II: Pathophysiology

2.5K
The pathophysiology of pneumonia involves the following steps:
2.5K
Stages of Infection01:26

Stages of Infection

64.7K
Stages of infection describe what happens to a susceptible host once a pathogen invades the human body. The stages of infection are incubation, prodromal, illness, stage of decline, and convalescence. The incubation stage is the period from exposure to a pathogen until symptoms start. The infected person is unaware of impending illness as the pathogens grow and multiply within the body. The duration may vary depending on the type of infection. The incubation period of measles averages ten to...
64.7K
Defense Against Bacterial Pathogens01:31

Defense Against Bacterial Pathogens

2.6K
The human immune system is a complex network of cells, tissues, and organs that work together to defend the body against bacterial infections. It consists of various immune cells, each playing a specific role in the defense mechanism.
Phagocytes
Phagocytes are the frontline soldiers of the immune system. They include neutrophils and macrophages. Neutrophils are the most abundant type of white blood cell and are quickly mobilized to the site of infection. Macrophages are larger cells that patrol...
2.6K

こちらも読む

関連記事

共著者、ジャーナル、引用グラフによってこの研究に関連する記事。

並び替え
Same author

<i>APOE</i> Genotype Modifies the Predictive Performance of Plasma Biomarkers for Amyloid Plaque Burden in Subjective Cognitive Decline.

Journal of Korean medical science·2026
Same author

Cardiac sympathetic degeneration informs the duration of the prodromal stage of body-first Lewy body disease.

NPJ Parkinson's disease·2026
Same author

Repetitive transcranial magnetic stimulation-induced severe hypotension in a patient with Parkinson's disease: a case report.

Acta neurologica Belgica·2026
Same author

The Clinical Significance of Thyroid Uptake in 123I- meta-iodobenzylguanidine Scintigraphy in Parkinson's disease.

Journal of movement disorders·2026
Same author

Mortality risk associated with acetylcholinesterase inhibitor use in Parkinson's disease dementia according to sex and age at disease onset: a nationwide cohort study.

Epidemiology and health·2026
Same author

Temporal evolution of antiparkinsonian drug prescription over 17 years: a real-world data analysis of Korean patients with Parkinson's disease.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology·2026
Same journal

Breaking barriers: Enhancing access to dementia clinical trials in the United Kingdom-Insights from the Scientific Advisory Board of the Dame Barbara Windsor Dementia Goals Programme.

Alzheimer's & dementia : the journal of the Alzheimer's Association·2026
Same journal

Unveiling the procoagulant state in Alzheimer's disease: A novel PET imaging strategy.

Alzheimer's & dementia : the journal of the Alzheimer's Association·2026
Same journal

Estimated labor market outcomes of people progressing from preclinical to early-stage Alzheimer's disease in the United States.

Alzheimer's & dementia : the journal of the Alzheimer's Association·2026
Same journal

Amyloid exacerbates tau and alpha-synuclein pathologies, behavioral impairments, and neuroinflammation in a mixed dementia model.

Alzheimer's & dementia : the journal of the Alzheimer's Association·2026
Same journal

Multimorbidity burden and patterns associated with DeepBrainNet-derived brain-age gap in dementia-free older adults: A community-based study.

Alzheimer's & dementia : the journal of the Alzheimer's Association·2026
Same journal

Reply to "Shifting the emphasis of brain health literacy from individuals to systems to reduce inequalities".

Alzheimer's & dementia : the journal of the Alzheimer's Association·2026
関連記事をすべて見る

関連する実験動画

Updated: Jan 8, 2026

Mouse Footpad Inoculation Model to Study Viral-Induced Neuroinflammatory Responses
09:07

Mouse Footpad Inoculation Model to Study Viral-Induced Neuroinflammatory Responses

Published on: June 14, 2020

11.5K

基礎科学と病態生理

Joong-Seok Kim1, Hyuk-Je Lee1, Bora Yoon1

  • 1The Catholic University of Korea, Seoul, NA, Korea, Republic of (South).

Alzheimer's & dementia : the journal of the Alzheimer's Association
|December 24, 2025
PubMed
まとめ
この要約は機械生成です。

本研究は、新規のPSEN2およびSLC20A2遺伝子の重複変異を有する75歳男性の認知機能低下のまれな症例を報告する。この発見は、認知症および脳石灰化の遺伝的原因の理解を深めるものである。

キーワード:
認知症脳石灰化遺伝子変異PSEN2SLC20A2神経画像

さらに関連する動画

A Precise Pathogen Delivery and Recovery System for Murine Models of Secondary Bacterial Pneumonia
13:45

A Precise Pathogen Delivery and Recovery System for Murine Models of Secondary Bacterial Pneumonia

Published on: September 21, 2019

6.0K
Using a Bacterial Pathogen to Probe for Cellular and Organismic-level Host Responses
08:38

Using a Bacterial Pathogen to Probe for Cellular and Organismic-level Host Responses

Published on: February 22, 2019

6.3K

関連する実験動画

Last Updated: Jan 8, 2026

Mouse Footpad Inoculation Model to Study Viral-Induced Neuroinflammatory Responses
09:07

Mouse Footpad Inoculation Model to Study Viral-Induced Neuroinflammatory Responses

Published on: June 14, 2020

11.5K
A Precise Pathogen Delivery and Recovery System for Murine Models of Secondary Bacterial Pneumonia
13:45

A Precise Pathogen Delivery and Recovery System for Murine Models of Secondary Bacterial Pneumonia

Published on: September 21, 2019

6.0K
Using a Bacterial Pathogen to Probe for Cellular and Organismic-level Host Responses
08:38

Using a Bacterial Pathogen to Probe for Cellular and Organismic-level Host Responses

Published on: February 22, 2019

6.3K

科学分野:

  • 神経科学; 遺伝学; 放射線学

背景:

  • 常染色体優性アルツハイマー病（ADAD）および原発性家族性脳石灰化症（PFBC）は、認知機能低下を引き起こすまれな遺伝性疾患である。75歳男性が記憶障害を呈し、脳画像で基底核石灰化、白質高信号、アミロイド沈着を示した。

研究 の 目的:

  • 異常な脳画像所見を有する患者の認知機能低下の臨床的、放射線学的、および遺伝的基盤を調査する。観察された神経学的症状に寄与する可能性のある遺伝子変異を同定する。

主な方法:

  • 神経画像検査には、アミロイド評価のための18F-フロルベタベンPET/CTおよび白質変化と微小出血のためのMRIが含まれた。PET SUVR値はCentiloidスケールに変換され、画像解析には標準化されたスケールが使用された。遺伝子変異を同定するために、1,097の認知症関連遺伝子の次世代シーケンシングが実施された。

主要な成果:

  • 有意なアミロイドプラーク沈着（Centiloid 98.3）および高密度の鉱物沈着が観察され、PFBCまたは副甲状腺機能亢進症を示唆していた。MRIでは内側側頭葉の萎縮、重度の白質高信号、および脳微小出血が明らかになった。遺伝子解析により、病原性の可能性が高いSLC20A2変異および意義不明のPSEN2バリアントが同定された。

結論:

  • 本症例は、PSEN2およびSLC20A2の複合変異が文書化された最初のインスタンスである。同定された遺伝子変異は、患者の認知機能低下および脳石灰化に関連している可能性がある。