,:

Serena Pastore1, Carolina Carraro2, Eleonora De Martino1

  • 1Department of Pediatrics, Institute for Maternal and Child Health IRCCS Burlo Garofolo, Trieste, Italy.

Frontiers in pediatrics
|August 29, 2025
PubMed
まとめ

珍しい遺伝疾患であるブラウ症候群は, テンソシノビス症候群の子供に診断されました. 遺伝子検査でNOD2遺伝子変異が確認され,メトトレキサートとアダリムマブによる治療が効果的となった.

関連する概念動画

Assessing Blood pressure using a doppler ultrasound01:19

Assessing Blood pressure using a doppler ultrasound

To obtain accurate blood pressure measurements in clinical settings, especially when traditional methods are insufficient, healthcare professionals utilize the Doppler ultrasound technique. This method uses high-frequency sound waves to detect blood flow within the arteries, which is crucial for patients with conditions that complicate circulatory system assessment.
Pre-Procedural Guidelines for Doppler Ultrasound Blood Pressure Assessment:
Preparation of Equipment:
3.0K
Mitral Stenosis II: Clinical features and Diagnostic Tests01:23

Mitral Stenosis II: Clinical features and Diagnostic Tests

Mitral stenosis is a heart condition in which the mitral valve, which allows blood to flow from the left atrium to the left ventricle, becomes narrowed or stenotic. This narrowing hinders blood flow and leads to clinical symptoms requiring specific medical evaluations and management strategies. The following overview outlines the clinical symptoms, assessments, diagnostic findings, prevention methods, and treatments for mitral stenosis.Clinical ManifestationsDyspnea (shortness of breath): This...
557
Myocarditis II: Clinical Features and Diagnostic Tests01:27

Myocarditis II: Clinical Features and Diagnostic Tests

Myocarditis is an inflammation of the heart muscle. The symptoms vary widely, encompassing asymptomatic presentations to severe, acute manifestations.Clinical PresentationAsymptomatic cases: In some instances, myocarditis may be asymptomatic, with the infection resolving without intervention. These cases often go undetected unless discovered incidentally through diagnostic imaging or tests conducted for other reasons.General Early Symptoms: Early symptoms of myocarditis are non-specific and can...
493
Pericarditis II: Clinical Features and Diagnostic Tests01:19

Pericarditis II: Clinical Features and Diagnostic Tests

Pericarditis is distinguished by inflammation of the pericardium, the fibrous sac that encases the heart. It can be acute, lasting less than six weeks, or chronic, persisting for over three months. Understanding its clinical manifestations and diagnostic findings is crucial for timely and effective management.Clinical ManifestationsWhile pericarditis can be asymptomatic, it usually presents with characteristic symptoms such as:Chest Pain: The most characteristic symptom of pericarditis is chest...
633
Hypertension III: Clinical Manifestations and Diagnostic Studies01:30

Hypertension III: Clinical Manifestations and Diagnostic Studies

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...
886
Peripheral Arterial Disease II: Clinical Manifestations and Diagnostic Evaluation01:21

Peripheral Arterial Disease II: Clinical Manifestations and Diagnostic Evaluation

Clinical manifestationsPeripheral Arterial Disease (PAD) manifests through a range of symptoms, from the characteristic intermittent claudication to atypical presentations and severe complications in advanced stages. Intermittent claudication, a hallmark symptom of PAD, presents as exercise-induced muscle pain that typically resolves within minutes of rest. This pain is reproducible and stems from inadequate blood flow, leading to the accumulation of lactic acid produced during anaerobic...
764