更新于：2024-11-01

Leri-Weil Syndrome

Leri-Weil综合征

更新于：2024-11-01

基本信息

别名

DCO、DYSCHONDROSTEOSIS、Dyschondrosteosis

+ [22]

简介

A bone growth disorder inherited in a pseudoautosomal dominant pattern caused by mutations in the SHOX gene. It is characterized by short long bones in the arms and legs, short stature, and abnormalities of the wrist and forearm bones which may cause pain and limit wrist movement.

关联

项与 Leri-Weil综合征相关的药物

Somatropin(Eli Lilly & Co.)

生长激素(Eli Lilly & Co.)

靶点

GHR

作用机制

GHR激动剂

在研机构

Eli Lilly Japan KK [+1]

原研机构

Eli Lilly & Co.

在研适应症

Leri-Weil综合征 [+5]

非在研适应症-

最高研发阶段批准上市

首次获批国家/地区

美国

首次获批日期1986-10-16

100 项与 Leri-Weil综合征相关的临床结果

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100 项与 Leri-Weil综合征相关的转化医学

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0 项与 Leri-Weil综合征相关的专利（医药）

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423

项与 Leri-Weil综合征相关的文献（医药）

2024-07-25·European Heart Journal - Imaging Methods and Practice

Lung water density is increased in patients at risk of heart failure and is largely independent of conventional cardiovascular magnetic resonance measures

Article

作者: Iyer, Nithin R ; Le, Thu-Thao ; Bryant, Jennifer A ; Ugander, Martin ; Grenier, Justin G ; Thompson, Richard B ; Chin, Calvin W L

AbstractAimsNon-invasive methods to quantify pulmonary congestion are lacking in clinical practice. Cardiovascular magnetic resonance (CMR) lung water density (LWD) mapping is accurate and reproducible and has prognostic value. However, it is not known whether LWD is associated with routinely acquired CMR parameters.Methods and resultsThis was an observational cohort including healthy controls and patients at risk of heart failure. LWD was measured using CMR with a free-breathing short echo time 3D Cartesian gradient-echo sequence with a respiratory navigator at 1.5 T. Associations were assessed between LWD, lung water volume and cardiac volumes, left ventricular (LV) mass and function, myocardial native T1, and extracellular volume fraction. In patients at risk for heart failure (n = 155), LWD was greater than in healthy controls (n = 15) (30.4 ± 5.0 vs. 27.2 ± 4.3%, P = 0.02). Using receiver operating characteristic analysis, the optimal cut-off for LWD was 27.6% to detect at-risk patients (sensitivity 72%, specificity 73%, positive likelihood ratio 2.7, and inverse negative likelihood ratio 2.6). LWD was univariably associated with body mass index (BMI), hypertension, right atrial area, and LV mass. In multivariable linear regression, only BMI remained associated with LWD (R2 = 0.32, P < 0.001).ConclusionLWD is increased in patients at risk for heart failure compared with controls and is only weakly explained by conventional CMR measures. LWD provides diagnostic information that is largely independent of conventional CMR measures.

2024-06-30·Annals of Pediatric Endocrinology & Metabolism

Identification of a novel mutation of the SHOX gene in a patient with Leri-Weill dyschondrosteosis accompanied by growth hormone deficiency

Article

作者: Yoo, Sukdong ; Kim, Min-Ji ; Kang, Jaebeen ; Cheon, Chong Kun

2024-06-01·Annales d'Endocrinologie

Lipomatoses

Review

作者: Dupuis, Hippolyte ; Espiard, Stéphanie ; Douillard, Claire ; Lemaitre, Madleen ; Vantyghem, Marie-Christine ; Jannin, Arnaud

Lipomatoses are benign proliferation of adipose tissue. Lipomas (benign fat tumors) are the most common component of lipomatosis. They may be unique or multiple, encapsulated or not, subcutaneous or sometimes visceral. In some cases, they form large areas of non-encapsulated fat hypertrophy, with a variable degree of fibrosis. They can develop despite the absence of obesity. They may be familial or acquired. At difference with lipodystrophy syndromes, they are not associated with lipoatrophy areas, except in some rare cases such as type 2 familial partial lipodystrophy syndromes (FPLD2). Their metabolic impact is variable in part depending on associated obesity. They may have functional or aesthetic consequences. Lipomatosis may be isolated, be part of a syndrome, or may be visceral. Isolated lipomatoses include multiple symmetrical lipomatosis (Madelung disease or Launois-Bensaude syndrome), familial multiple lipomatosis, the painful Dercum's disease also called Adiposis Dolorosa or Ander syndrome, mesosomatic lipomatosis also called Roch-Leri lipomatosis, familial angiolipomatosis, lipedema and hibernomas. Syndromic lipomatoses include PIK3CA-related disorders, Cowden/PTEN hamartomas-tumor syndrome, some lipodystrophy syndromes, and mitochondrial diseases, especially MERRF, multiple endocrine neoplasia type 1, neurofibromatosis type 1, Wilson disease, Pai or Haberland syndromes. Finally, visceral lipomatoses have been reported in numerous organs and sites: pancreatic, adrenal, abdominal, epidural, mediastinal, epicardial… The aim of this review is to present the main types of lipomatosis and their physiopathological component, when it is known.