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Last update 23 Jan 2025

Leri-Weil Syndrome

Last update 23 Jan 2025

Basic Info

Synonyms

DCO, DYSCHONDROSTEOSIS, Dyschondrosteosis

+ [22]

Introduction

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.

Drugs associated with Leri-Weil Syndrome

Somatropin(Eli Lilly & Co.)

Target

GHR

Mechanism

GHR agonists

Active Org.

Eli Lilly & Co. [+1]

Originator Org.

Eli Lilly & Co.

Active Indication

Leri-Weil Syndrome [+6]

Inactive Indication-

Drug Highest PhaseApproved

First Approval Ctry. / Loc.

First Approval Date16 Oct 1986

100 Clinical Results associated with Leri-Weil Syndrome

100 Translational Medicine associated with Leri-Weil Syndrome

0 Patents (Medical) associated with Leri-Weil Syndrome

431

Literatures (Medical) associated with Leri-Weil Syndrome

01 Dec 2024·The Gerontologist

Reducing Ageism and Ableism With Brief Videos Providing Education About Aging and Disabilities and Exposure to Positive Intergenerational Contact

Article

Author: Levy, Sheri R ; Monahan, Caitlin ; Lytle, Ashley

AbstractBackground and ObjectivesOlder adults living with a disability (LWD) face both ageism and ableism, but there are few interventions to address this significant and growing social problem.Research Design and MethodsDrawing on the Positive Education about Aging and Contact Experiences model, 3 online studies involved participants randomly assigned to watch 4 brief online videos providing education about aging and disability and exposure to positive contact between younger adults and older adults/older adults LWD (experimental condition) or videos about interior design (control condition). Studies 1 (community sample) and 2 (university sample) included an immediate posttest whereas Study 3 (2 university samples) additionally included a pretest and delayed posttest.ResultsExperimental condition (vs control) participants reported greater agreement with older adults LWD as contributors to society (immediate posttest in Studies 1 and 2; immediate and delayed posttest in Study 3), lesser (greater) endorsement of negative (positive) stereotypes of older adults and older adults LWD, lesser agreement with older adults LWD as burdensome, lesser intergenerational tension with older adults (immediate posttest in Study 2; immediate and delayed posttest in Study 3), and greater openness to careers working with older adults and older adults LWD (immediate and delayed posttest in Study 3).Discussion and ImplicationsBrief online interventions that involve education about aging and disabilities as well as exposure to positive intergenerational contact can be an effective means of reducing ableism and ageism toward older adults and older adults LWD.

25 Jul 2024·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

Author: Iyer, Nithin R ; Bryant, Jennifer A ; Le, Thu-Thao ; 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.

30 Jun 2024·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

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

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Leri-Weil Syndrome

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