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

Chronic Kidney Disease II: Clinical Manifestations01:24

Chronic Kidney Disease II: Clinical Manifestations

520
Chronic Kidney Disease (CKD) progressively impairs multiple body systems due to the accumulation of uremic toxins, which disrupt cellular functions across various organs.Neurologic symptomsNeurologic symptoms often arise early in CKD, as uremic toxin buildup drives changes in cognitive and motor functions. Patients frequently experience fatigue, headache, confusion, difficulty concentrating, and, in severe cases, seizures. Peripheral neuropathy commonly manifests as burning sensations in the...
520
Coronary Artery Disease III: Clinical Manifestations01:30

Coronary Artery Disease III: Clinical Manifestations

299
Coronary Artery Disease (CAD) is a primary health risk worldwide, leading to significant morbidity and mortality. The condition arises from the buildup of atherosclerotic plaques within the coronary arteries, resulting in diminished blood supply to the heart muscle.The clinical manifestations of CAD vary widely, from asymptomatic stages to severe, life-threatening conditions. Understanding these manifestations is crucial for early diagnosis and effective management.Angina Pectoris: The Warning...
299
Endocarditis II: Clinical Features of Infective Endocarditis01:25

Endocarditis II: Clinical Features of Infective Endocarditis

364
Endocarditis can present various clinical features depending on the causative organism and the patient's underlying health conditions. Initially, the clinical features of infective endocarditis develop gradually, presenting with nonspecific symptoms that can be easily mistaken for other illnesses.General SymptomsEarly symptoms of infective endocarditis are fever, chills, weakness, malaise, fatigue, and weight loss. These symptoms reflect the systemic nature of the infection and the body's...
364
Heart Failure III: Clinical Manifestations01:26

Heart Failure III: Clinical Manifestations

436
Heart failure (HF) manifests primarily as dyspnea, fatigue, and fluid retention, resulting in peripheral and pulmonary edema. Symptoms may vary depending on which ventricle is more affected, left or right.Left-Sided Heart FailureAlso known as left ventricular failure, this condition results from the left ventricle's inability to fill or eject sufficient blood into the systemic circulation. It leads to pulmonary congestion, which occurs when the left ventricle fails to eject blood effectively...
436
Gastroesophageal Reflux Disease II: Clinical Features and Management01:29

Gastroesophageal Reflux Disease II: Clinical Features and Management

652
Gastroesophageal reflux disease, or GERD, is a persistent medical condition that affects many individuals worldwide. Its clinical manifestations can vary greatly, making diagnosis and management challenging for healthcare professionals. The following is a comprehensive overview of the clinical manifestations, assessment, and management strategies for GERD.
Clinical Manifestations
GERD presents itself in a multitude of ways, with symptoms varying from person to person. The hallmark symptoms are...
652
Hypertension III: Clinical Manifestations and Diagnostic Studies01:30

Hypertension III: Clinical Manifestations and Diagnostic Studies

437
Hypertension is asymptomatic and also referred to as the "silent killer" until it progresses to a severe stage or causes target organ disease. Patients may experience symptoms stemming from the strain on blood vessels and tissues in various organs or the heart's increased workload.Physical exams might show no abnormalities other than high blood pressure. Signs of vascular damage, when present, correspond to the organs supplied by the affected vessels, leading to target organ damage. For...
437

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

Accuracy of colposcopy to triage HPV-positive women in cervical cancer screening: a systematic review and meta-analysis.

EClinicalMedicine·2026
Same author

Artificial intelligence in cervical cancer screening and triage: a role-stratified systematic review and bivariate meta-analysis.

Current opinion in oncology·2026
Same author

European Society of Gynaecological Oncology/European Network of Gynaecological Advocacy Groups Position on risk-based cervical cancer screening.

International journal of gynecological cancer : official journal of the International Gynecological Cancer Society·2026
Same author

ASO Visual Abstract: Perioperative Risk Stratification in Surgically Treated Endometrial Cancer: The Impact of Nutritional Status and Comorbidity Burden on Morbidity and Survival.

Annals of surgical oncology·2026
Same author

Perioperative Risk Stratification in Surgically Treated Endometrial Cancer: The Impact of Nutritional Status and Comorbidity Burden on Morbidity and Survival.

Annals of surgical oncology·2026
Same author

High-Risk Human Papillomavirus Clearance with a <i>Coriolus versicolor</i>-Based Vaginal Gel.

Diseases (Basel, Switzerland)·2026

関連する実験動画

Updated: Jan 7, 2026

A Metadata Extraction Approach for Clinical Case Reports to Enable Advanced Understanding of Biomedical Concepts
07:50

A Metadata Extraction Approach for Clinical Case Reports to Enable Advanced Understanding of Biomedical Concepts

Published on: September 20, 2018

16.4K

臨床症状

Murat Gultekin1

  • 1Erciyes University School Of Medicine, Department of Neurology, Kayseri, Turkey.

Alzheimer's & dementia : the journal of the Alzheimer's Association
|December 25, 2025
PubMed
まとめ
この要約は機械生成です。

成人発症X連鎖性副腎白質ジストロフィー(X-ALD)は、認知機能低下や神経学的問題を伴って成人期に発症することがある。遺伝子解析によりABCD1遺伝子変異が確認され、成人発症X-ALDの認識の重要性が強調された。

キーワード:
成人発症X連鎖性副腎白質ジストロフィーABCD1遺伝子神経学的症状認知機能低下症例報告

さらに関連する動画

Imaging Features of Systemic Sclerosis-Associated Interstitial Lung Disease
04:44

Imaging Features of Systemic Sclerosis-Associated Interstitial Lung Disease

Published on: June 16, 2020

20.7K
Isolating Human Peripheral Blood Mononuclear Cells and CD4+ T cells from S&#233;zary Syndrome Patients for Transcriptomic Profiling
09:08

Isolating Human Peripheral Blood Mononuclear Cells and CD4+ T cells from Sézary Syndrome Patients for Transcriptomic Profiling

Published on: October 14, 2021

6.1K

関連する実験動画

Last Updated: Jan 7, 2026

A Metadata Extraction Approach for Clinical Case Reports to Enable Advanced Understanding of Biomedical Concepts
07:50

A Metadata Extraction Approach for Clinical Case Reports to Enable Advanced Understanding of Biomedical Concepts

Published on: September 20, 2018

16.4K
Imaging Features of Systemic Sclerosis-Associated Interstitial Lung Disease
04:44

Imaging Features of Systemic Sclerosis-Associated Interstitial Lung Disease

Published on: June 16, 2020

20.7K
Isolating Human Peripheral Blood Mononuclear Cells and CD4+ T cells from S&#233;zary Syndrome Patients for Transcriptomic Profiling
09:08

Isolating Human Peripheral Blood Mononuclear Cells and CD4+ T cells from Sézary Syndrome Patients for Transcriptomic Profiling

Published on: October 14, 2021

6.1K

科学分野:

  • 神経学; 遺伝学; 希少疾患

背景:

  • X連鎖性副腎白質ジストロフィー(X-ALD)は、ABCD1遺伝子変異によって引き起こされる、男性に影響を及ぼす一般的なペルオキシソーム疾患である。 通常は小児期に発症するが、X-ALDは認知および行動症状を伴って、より遅い時期に発症することがある。

研究 の 目的:

  • 47歳男性における遅発性X連鎖性副腎白質ジストロフィーの症例報告。 成人発症X-ALDの多様な臨床像を強調すること。

主な方法:

  • 遺伝子解析により、ABCD1遺伝子のホモ接合性変異(c.761C>Tおよびp.T254M)が同定された。 脳MRIを含む臨床的および神経学的検査が実施された。

主要な成果:

  • 患者は12年間にわたる認知機能低下、歩行障害、視力障害、痙縮を経験した。 脳MRIでは広範な白質病変と全般的な皮質萎縮が明らかになった。 内分泌検査では有意な異常は認められなかった。

結論:

  • X連鎖性副腎白質ジストロフィーは、進行性の白質疾患を伴って、まれに成人期に発症することがある。 成人発症X-ALDは、認知症を含む様々な臨床症状を呈することがある。