Miller-McKusick-Malvaux-Syndrome (3M Syndrome)

Miller-McKusick-Malvaux综合征（3M综合征）

更新于：2025-05-07

基本信息

别名

3-M Syndrome、3-M syndrome、3M SYNDROME

+ [25]

简介

A rare primordial growth disorder characterized by low birth weight, reduced birth length, severe postnatal growth restriction, large head size, a spectrum of minor anomalies (including facial dysmorphism) and normal intelligence.

关联

100 项与 Miller-McKusick-Malvaux综合征（3M综合征）相关的临床结果

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100 项与 Miller-McKusick-Malvaux综合征（3M综合征）相关的转化医学

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0 项与 Miller-McKusick-Malvaux综合征（3M综合征）相关的专利（医药）

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105

项与 Miller-McKusick-Malvaux综合征（3M综合征）相关的文献（医药）

2025-04-01·Mayo Clinic Proceedings

Characterization of Cardiovascular Events and Prognosis in Immune Checkpoint Inhibitor–Related Myocarditis

Article

作者: Ray, Jordan C ; Mahmoud, Ahmed K ; El Masry, Hicham ; Wasef, Beman ; Larsen, Carolyn M ; Roarke, Michael ; Tagle-Cornell, Cecilia ; Baba Ali, Nima ; Arsanjani, Reza ; Pereyra Pietri, Milagros ; Awad, Kamal ; Kenyon, Courtney R ; Barry, Timothy ; Narayanasamy, Hema ; Abbas, Mohammed Tiseer ; Ayoub, Chadi ; Said, Ebram F ; Herrmann, Joerg ; Masson, Rajeev ; Farina, Juan M ; O'Shea, Michael ; Scalia, Isabel G ; Kamel, Moaz A

OBJECTIVETo evaluate the incidence, timing, and characteristics of immune checkpoint inhibitor-related myocarditis (ICIrM) and associated cardiovascular events at 3-year follow-up.METHODSAll patients treated with immune checkpoint inhibitors (ICIs) at a multicenter institution from 2011 to 2022 were retrospectively reviewed for ICIrM. A propensity score-matched control group was identified from patients treated with ICIs without development of myocarditis (ratio of 1:4). Baseline characteristics, cardiovascular events, and mortality outcomes were manually curated during extended 3-year follow-up. Major adverse cardiovascular events (MACE) were defined as transient ischemic attack/stroke, heart failure, and myocardial infarction.RESULTSOf 5423 patients treated with ICIs, ICIrM occurred in 59 (1.1%), and 236 propensity score-matched patients who received ICIs without myocarditis were identified as controls. Mean age was 68.5 ± 12.3 years; 65.4% were male. Median time to development of ICIrM was 44 days (interquartile range, 28 to 102 days), with median troponin value of 364 ng/L (interquartile range, 115 to 1224 ng/L). Patients with ICIrM had increased risk of cardiac death (hazard ratio [HR], 34.0; 95% CI, 7.8 to 148.0; P<.001), MACE (HR, 5.0; 95% CI, 3.1 to 8.1; P<.001), ventricular tachycardia (HR, 12.3; 95% CI, 1.3 to 118.4; P=.03), and complete heart block (HR, 2.3; 95% CI, 1.0 to 5.1; P=.046); these occurred predominantly within 120 days after diagnosis of ICIrM. Triple-M syndrome (myocarditis, myasthenia, and myositis) occurred in 12 (20.3%), with increased risk for all-cause mortality (HR, 2.1; 95% CI, 1.0 to 4.1; P=.04) but not for cardiac death or MACE.CONCLUSIONImmune checkpoint inhibitor-related myocarditis is associated with increased cardiovascular events that are further characterized on extended follow-up, with most occurring in the first 4 months after diagnosis.

2024-11-11·Cureus

Immune Checkpoint Inhibitor-Induced Myositis Causing Severe Ptosis: A Case Report

Article

作者: Sivaraman, Manjamalai ; Genovese, Sabrina ; Haradwala, Mohamed B ; Abdeljabbar, Nadine A

Pembrolizumab (Keytruda), an immune checkpoint inhibitor, has been increasingly utilized in the treatment of metastatic urothelial carcinoma. While offering a favorable safety profile compared to traditional chemotherapy, it presents unique risks, including immune-related adverse events (irAEs). This case report describes a 77-year-old woman with a history of invasive bladder cancer treated with pembrolizumab who developed severe bilateral ptosis, myositis, and myocarditis. Initially considered to have 3M syndrome, further evaluation indicated a myasthenia gravis mimic. This report emphasizes the critical need for vigilant monitoring for early signs of irAEs, such as ptosis, myocarditis, and myositis, in patients receiving pembrolizumab. The patient presented with severe ptosis and respiratory difficulties and was successfully treated with high-dose steroids and plasma exchange therapy, leading to overall improvement. This case highlights the diagnostic challenges of differentiating myositis from myasthenia gravis in patients with ICI-induced complications while advocating for an aggressive treatment approach.

2024-07-02·Journal of Biomolecular Structure and Dynamics

Structural and functional insights into a novel homozygous missense pathogenic variant in CUL7 identified in consanguineous Pakistani family

Article

作者: Yousaf, Maha ; Rao, Hadi Zahid ; Foo, Jia Nee ; Shahzad, Shaheen ; Siddiqi, Saima ; Zaka, Ayesha

3M syndrome is a rare genetic familial disorder characterized by short stature, growth retardation, facial dysmorphism, skeletal abnormalities, fleshy protruding heels, and normal intelligence, caused by mutations in the CUL7, OBSL1 and CCDC8 genes. In the present study, a novel homozygous missense variant of CUL7 (NP_001161842.1, c.4493T > C, p.L1498P) has been identified in a consanguineous Pakistani family by whole exome sequencing. In silico structural evaluation, molecular docking and simulation studies of mutant CUL7 provides substantial evidence about its crucial role in the progression of discussed ailment. The newly discovered variant significantly altered the protein's three dimensional structure, leading to abnormal interaction with binding proteins. This computational and experimental investigation provides useful information to drug developers for the synthesis of novel therapeutics against the discussed ailment.Communicated by Ramaswamy H. Sarma.

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