早期开始的包容性体肌炎:基于人口的研究
Ulrika Lindgren1,2, Carola Hedberg-Oldfors3, Rille Pullerits4,5
1Department of Laboratory Medicine, Institute of Biomedicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden. ulrika.lindgren@gu.se.
Journal of neurology
|July 27, 2023
概括
早期开始的包容体肌炎 (IBM) 是一种严重的疾病,影响年轻人,其特点是肌肉逐渐疲软,生存率降低. 这项研究强调了这种疾病.
科学领域:
- 神经学 神经学
- 遗传学 遗传学 是一个
- 病理学 病理学 病理学
背景情况:
- 包容体肌肉炎 (IBM) 通常影响45岁以上的人,对年轻患者的研究有限.
- IBM是一种炎症性肌肉病变,导致肌肉逐渐衰弱,缺乏有效的治疗方法.
研究的目的:
- 在以人口为基础的队列中,以早期开始的包容体肌炎 (IBM) 为特征.
- 研究年轻IBM患者的临床表现,遗传因素和生存结果.
主要方法:
- 一项为期33年的基于人口的研究确定了142名IBM患者,其中6名患有早期发病的IBM (发病年龄<50岁).
- 收集的数据包括医疗记录,肌肉强度,并发症,肌肉活检和核/线粒体DNA.
- 早期发病的IBM病例与年龄相匹配的IBM患者和对照人群进行了比较.
主要成果:
- 早期发病的IBM症状发病时的中位数年龄为36岁;诊断发生在43岁的中位数.
- 诊断后的平均存活时间为14年,患病率为每百万居民1.2人.
- 显著的四头肌肌肉强度下降 (0.91%/月) 和高的线粒体DNA突变负载被观察到.
结论:
- 早期发病的IBM是年轻和中年人的严重,渐进的肌肉病.
- 这种疾病与显著的肌肉衰弱,线粒体功能障碍和生存率降低有关.
- 需要进一步的研究,以了解潜在的机制,并开发治疗早期发病的IBM.
更多相关视频
08:16Utility of Dissociated Intrinsic Hand Muscle Atrophy in the Diagnosis of Amyotrophic Lateral Sclerosis
Published on: March 4, 2014
31.9K
08:07Single Myofiber Isolation and Culture from a Murine Model of Emery-Dreifuss Muscular Dystrophy in Early Post-Natal Development
Published on: July 1, 2020
7.8K
相关概念视频
Infection
When a pathogen enters the body and reproduces, it can cause an infection, damage body cells, and cause illness symptoms that eventually lead to disease. Therefore, its prevention requires breaking the chain of infection.
The chain begins with pathogens: bacteria, viruses, fungi, prions, or parasites such as protozoa helminths. These can be present on the skin as transient or resident flora, or they can be acquired from the environment. Identifying and treating the type of infection and...
The chain begins with pathogens: bacteria, viruses, fungi, prions, or parasites such as protozoa helminths. These can be present on the skin as transient or resident flora, or they can be acquired from the environment. Identifying and treating the type of infection and...
Factors Affecting the Risk of Infection
The hosts' susceptibility to infection depends on several factors. The integrity of the skin and mucous membranes helps protect the body against microbial attacks. When the skin is altered, the chance of infection, limb loss, and even death increases.
The integrity and count of the white blood cells help the body resist pathogens and fight infection. When impaired, it reduces the body's resistance to pathogens. The acidic pH levels of the gastrointestinal, genitourinary tracts, and skin create...
The integrity and count of the white blood cells help the body resist pathogens and fight infection. When impaired, it reduces the body's resistance to pathogens. The acidic pH levels of the gastrointestinal, genitourinary tracts, and skin create...
Skin Diseases and Disorders
Skin is the first line of defense and encounters a variety of microbes. Some pathogenic strains are often the cause of a broad range of infections of the skin and other body systems. These conditions can affect people of all ages and may have different causes, including genetic factors, infections, autoimmune reactions, environmental factors, and lifestyle choices.
Gram-positive Staphylococcus spp. and Streptococcus spp. are responsible for many of the most common skin infections. However, many...
Gram-positive Staphylococcus spp. and Streptococcus spp. are responsible for many of the most common skin infections. However, many...
Burn Injuries
Burn injuries occur when the skin and underlying tissues are damaged due to exposure to heat, electricity, chemicals, radiation, or friction. They can vary in severity, from minor superficial burns to severe deep burns that can be life-threatening.
The damage results in the death of skin cells, which can lead to a massive loss of fluid. Dehydration, electrolyte imbalance, and renal and circulatory failure follow, which can be fatal. Burn patients are treated with intravenous fluids to offset...
The damage results in the death of skin cells, which can lead to a massive loss of fluid. Dehydration, electrolyte imbalance, and renal and circulatory failure follow, which can be fatal. Burn patients are treated with intravenous fluids to offset...
The Skin Microbiota
The human skin serves as a complex ecosystem inhabited by a diverse community of microorganisms, including bacteria, fungi, and viruses. This microbiome plays a critical role in maintaining skin health and defending against pathogenic invaders. The composition of microbial communities varies significantly across different regions of the body, influenced primarily by the local levels of moisture and sebum.Regional Variation in Skin MicrobiotaCutibacterium acnes predominantly colonizes sebaceous...
Acne Infection
Acne is a multifactorial skin condition primarily affecting adolescents and young adults, with a global prevalence estimated to exceed 75% in this demographic. The condition is characterized by the formation of comedones (blackheads and whiteheads), papules, pustules, nodules, and, in severe cases, cysts, particularly in areas rich in sebaceous glands such as the face, neck, chest, and back. The pathogenesis involves increased sebum production, follicular hyperkeratinization, colonization by...
