制度・支援
指定難病 — No.261

タンジール病

検索語 Tangier Disease ・ 最終更新 2026-07-21 21:26 ・ 最新に更新

Data Sheet
指定 No.261
Src PubMed · CT.gov · jRCT

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( 01 )EVIDENCE / PUBMED · 5件

世界の論文

直近の研究を、やさしい日本語で

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症例報告
MK-01 · PMID 42465824

Acute hemorrhagic edema of infancy mimicking purpura fulminans: a report of two cases

Abstract / 原文

Acute hemorrhagic edema of infancy (AHEI) is a rare leukocytoclastic vasculitis of young children characterized by cockade-like purpura and edema, usually with a preserved general condition. Because of its dramatic presentation, it may mimic life-threatening disorders such as meningococcemia with purpura fulminans, leading to extensive investigations and unnecessary treatment. We report two cases of AHEI in boys aged 18 and 22 months. The first presented with widespread purpura after a recent fever, prompting a full sepsis workup and empirical ceftriaxone before AHEI was recognized. The second had typical cockade purpura with acral edema and no fever, allowing immediate diagnosis and simple clinical monitoring. Both children recovered spontaneously, with complete resolution within 10-14 days. Early recognition of AHEI is essential to avoid misdiagnosis and to adjust management appropriately in infants presenting with purpura.

Journal
The Pan African medical journal(2026)
Authors
3名
Type
Case Reports, Journal Article
PubMedで原文を見る
症例報告
MK-02 · PMID 42422655

Definitive Radiotherapy for Unresectable Unicentric Mediastinal Castleman Disease: A Case Report

Abstract / 原文

Castleman disease is a rare nonclonal lymphoproliferative disorder with heterogeneous clinical presentations and therapeutic approaches. Surgery remains the standard treatment for unicentric Castleman disease, while radiotherapy may represent an alternative option in unresectable cases. We report the case of a 17-year-old female who presented with exertional dyspnea related to a right hilar mediastinal mass. Chest computed tomography revealed a well-circumscribed lesion closely related to adjacent vascular and bronchial structures. Histopathological examination demonstrated abnormal lymphoid follicles with atrophic germinal centers producing the characteristic "onion-skin" appearance. Immunohistochemical analysis showed a CD3-, CD20+, CD21+, Bcl2-, and CD5- profile consistent with the hyaline vascular subtype of unicentric Castleman disease. Positron emission tomography/computed tomography demonstrated localized hypermetabolic mediastinal lymphadenopathy without distant involvement. Due to close vascular relationships and high hemorrhagic risk, the lesion was considered unresectable after multidisciplinary discussion. The patient underwent definitive volumetric modulated arc therapy (VMAT) delivering 39.6 Gy in 22 fractions. Treatment was well tolerated without significant acute or late toxicity. After 13 months of follow-up, clinical and radiological evaluation demonstrated a favorable response, with approximately 50% tumor reduction according to RECIST v1.1 criteria, improvement in dyspnea from New York Heart Association (NYHA) class III to class II, and normalization of pulmonary function tests. This case highlights the potential role of definitive radiotherapy as an effective and well-tolerated therapeutic alternative in unresectable unicentric mediastinal Castleman disease.

Journal
Cureus(2026 Jun)
Authors
5名
Type
Case Reports, Journal Article
PubMedで原文を見る
症例報告
MK-03 · PMID 42403862

Extensive Pneumomediastinum, Pneumopericardium, and Subcutaneous Emphysema Complicating Anti-melanoma Differentiation-Associated Gene 5 (Anti-MDA5)-Positive Dermatomyositis-Associated Fibrosing Interstitial Lung Disease: A CT-Based Case Report

Abstract / 原文

Dermatomyositis-associated interstitial lung disease may be severe, particularly in patients with anti-melanoma differentiation-associated gene 5 (anti-MDA5) antibody-positive disease, and can be complicated by air-leak phenomena. We report the case of a 60-year-old woman with newly diagnosed anti-MDA5-positive dermatomyositis-associated interstitial lung disease who was admitted for worsening dyspnea and extensive subcutaneous emphysema. Clinical examination revealed diffuse subcutaneous crepitus involving the thorax, neck, anterior chest wall, including the breasts, and back, bilateral pulmonary crackles, Gottron papules, erythematous skin lesions, and proximal lower-limb weakness. Non-contrast thin-section chest CT demonstrated diffuse chronic fibrosing interstitial lung disease with peripheral and basal predominance, manifested by septal and non-septal reticulations, intralobular reticulation, honeycomb-like fibrotic change, traction bronchiectasis, and persistent basal ground-glass opacities on expiratory images, as well as bilateral pulmonary micronodules. CT also showed extensive pneumomediastinum, pneumopericardium, right pleural or extrapleural air extension, and diffuse subcutaneous emphysema extending into the cervical, thoracic, axillary, and deep facial soft tissues. Limited upper abdominal sections showed hepatic, splenic, and pancreatic uncinate process calcifications, considered incidental in the context of the thoracic examination. The patient was treated with high-dose corticosteroids and immunosuppressants, including mycophenolate mofetil and cyclophosphamide, with prophylactic anticoagulation. This report highlights the value of CT in mapping air-leak complications and characterizing the underlying fibrosing interstitial lung disease in anti-MDA5-positive dermatomyositis.

Journal
Cureus(2026 Jun)
Authors
9名
Type
Case Reports, Journal Article
PubMedで原文を見る
症例報告
MK-04 · PMID 42403786

Caught in the Whirl: Computed Tomography Diagnosis of Transverse Colon Volvulus With Proximal Jejunal Involvement and Cecocolic Pneumatosis

Abstract / 原文

Transverse colon volvulus is a rare cause of mechanical bowel obstruction, and preoperative diagnosis may be challenging because clinical and radiographic findings are often nonspecific. Computed tomography (CT) plays a central role in identifying the transition point, mesenteric whirl sign, associated bowel involvement, and signs of bowel compromise. We report the case of a 65-year-old man with chronic obstructive pulmonary disease who presented with a five-day history of bowel obstruction, including absence of stool and flatus and vomiting. Upright abdominal radiography showed colonic air-fluid levels, prompting further CT evaluation. Abdominopelvic CT demonstrated marked dilatation of the small bowel and right colon upstream from a left paramedian mesenteric whirl. The volvulus involved the transverse colon, which showed a bird-beak configuration, and an adjacent proximal jejunal loop. The superior mesenteric vein was displaced to the left of the superior mesenteric artery at the level of the twist. Cecocolic pneumatosis was present, suggesting bowel compromise, without pneumoperitoneum, portal venous gas, mesenteric venous gas, or definite mural nonenhancement. Emergency surgery was performed for transverse mesenterico-colic volvulus, and the operative procedure documented ileocecal resection with stoma creation. The patient later underwent ileostomy takedown with manual end-to-end ileocolic anastomosis. This case highlights the value of CT in diagnosing rare volvulus patterns, defining the involved bowel segments, and identifying complications that support urgent surgical management.

Journal
Cureus(2026 Jun)
Authors
5名
Type
Case Reports, Journal Article
PubMedで原文を見る
不明
MK-05 · PMID 42331962

First report of Penicillium ulaiense causing whisker mold on postharvest citrus fruits in Morocco

Abstract / 原文

Between February 2024 and June 2025, surveys conducted in northwestern Morocco revealed citrus fruits (Citrus sinensis and Citrus × limon) showing atypical postharvest decay symptoms, characterized by dark, water-soaked lesions with zonation and coremia-like structures. These symptoms were detected at only two sites, with a low incidence of 1.6% in the orchard and 0.5% in market samples. Five fungal isolates were obtained from symptomatic tissues on potato dextrose agar (PDA). Morphological characterization identified all isolates as Penicillium ulaiense, based on colony and micromorphological features consistent with published descriptions. Two representative isolates (BH_B1 and BH_E2) were selected for molecular analyses. Sequencing of the ITS region and the β-tubulin (BenA) gene showed 99-100% identity with reference P. ulaiense sequences, and the concatenated alignment comprised 804 base pairs. Phylogenetic analyses placed the Moroccan isolates within a well-supported P. ulaiense clade, clearly distinct from closely related species such as P. italicum and P. expansum. Pathogenicity assays reproduced typical symptoms on C. sinensis fruits, with progressive lesion development and successful re-isolation of the pathogen, confirming its pathogenic role under experimental conditions. This study reports, for the first time, the occurrence of Penicillium ulaiense associated with postharvest whisker mold symptoms on citrus fruits in Morocco. It provides new insights into postharvest citrus pathogens in Morocco and establishes a basis for future investigations on the occurrence and epidemiology of this species.

Journal
Scientific reports(2026 Jun)
Authors
7名
Type
Journal Article
PubMedで原文を見る
( 02 )TRIALS / JAPAN · 0件

日本で参加できる治験

現在 募集中のもの

日本で現在募集中の治験は見つかりませんでした。下の公式レジストリで条件を変えると見つかる場合があります。
( 03 )REGISTRY / jRCT

治験をもっと探す

日本の公式レジストリで全件を確認

上の一覧は ClinicalTrials.gov の一部です。日本国内の治験の多くは、日本の公式レジストリ jRCT にのみ登録されています。下記から最新の全件をご確認ください。

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