相关实验视频
Updated: Jul 25, 2025

08:42
Skeletal Phenotype Analysis of a Conditional Stat3 Deletion Mouse Model
Published on: July 3, 2020
4.5K
在成年人中,脊柱肠道病变的发展与X相关的低度血症有关
Julia Herrou1,2, Jacques Fechtenbaum2, Anya Rothenbuhler3,4,5
1Department of Rheumatology, INSERM UMR 1153, Université de Paris-Cité, APHP Centre, Cochin Hospital, 75014 Paris, France.
The Journal of clinical endocrinology and metabolism
|June 30, 2023
概括
在超过一半的成年人中,脊柱肠道病变在X链接低度血症 (XLH) 中进展. 基线时的年龄较大与这种进展有关,突出显示了老龄化XLH患者监测的必要性.
科学领域:
- 整形外科 整形外科 整形外科
- 遗传学 遗传学 是一个
- 代谢性骨疾病 代谢性骨疾病
背景情况:
- 与X相关的低度血症 (XLH) 是一种罕见的遗传性疾病,其特征是低度血症和恶心/骨质疏松症.
- 肌肉骨并发症,特别是肠病,在成人XLH患者中很常见,并显著影响生活质量.
研究的目的:
- 在被诊断为XLH的成年人中调查脊柱肠道病变的发展和进展的危险因素.
- 确定该患者群体中脊髓肠病变恶化的临床和人口预测因素.
主要方法:
- 一项回顾性研究是在法国罕见疾病和代谢参考中心进行的.
- 分析了51名成年XLH患者,两次EOS成像至少两年间隔.
- 进展被定义为脊椎间水平的新型肠病变.
主要成果:
- 在研究的XLH患者中,超过一半 (52.9%) 的患者在平均5.7年的随访期间表现出脊柱肠道病变的进展.
- 单变量分析表明,年龄较大,治疗开始时年龄较大,牙科并发症,儿童期少用酸盐/维生素D类比治疗,关节骨关节炎与进展有关.
- 多变量分析没有确定这些因素中的任何一个与脊髓肠病变进展独立相关.
结论:
- 这项研究证实,在成人XLH患者中,脊髓肠病变的进展率很高.
- 年龄的增加似乎是与该队列中脊髓肠病变的进展相关的主要因素.
相关概念视频
Nephrotic Syndrome I : Introduction
9
Nephrotic Syndrome is a chronic kidney disorder defined by clinical findings such as severe proteinuria, hypoalbuminemia, hyperlipidemia, and edema. These symptoms result from damage to the glomeruli, the kidney’s filtering units, increasing their permeability to proteins.Definition and Meaning:Proteinuria, defined as the loss of more than 3.5 grams of protein per day in adults, is a crucial feature of nephrotic syndrome. This condition is often accompanied by edema, the accumulation of...
9
Sex-linked Disorders
102.4K
Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
102.4K
Chronic Kidney Disease II: Clinical Manifestations
36
Chronic Kidney Disease (CKD) progressively impairs multiple body systems due to the accumulation of uremic toxins, which disrupt cellular functions across various organs.Neurologic symptomsNeurologic symptoms often arise early in CKD, as uremic toxin buildup drives changes in cognitive and motor functions. Patients frequently experience fatigue, headache, confusion, difficulty concentrating, and, in severe cases, seizures. Peripheral neuropathy commonly manifests as burning sensations in the...
36
Bone Disorders
3.7K
Aging and its effect on bone remodeling is the most common cause of bone disorders. In young and healthy people, bone deposition and resorption happen at an equal rate to maintain optimal bone health.
Bone deposition is also affected by the levels of sex hormones like estrogen and testosterone that promote osteoblast activity and bone matrix synthesis. When the level of these hormones decreases due to aging, it causes a reduction in bone deposition. As a result, bone resorption by osteoclasts...
Bone deposition is also affected by the levels of sex hormones like estrogen and testosterone that promote osteoblast activity and bone matrix synthesis. When the level of these hormones decreases due to aging, it causes a reduction in bone deposition. As a result, bone resorption by osteoclasts...
3.7K
Pulmonary Hypertension: Classification and Pathogenesis
231
Pulmonary hypertension (PH) is a severe health condition in which the mean pulmonary arterial pressure increases to 25 mmHg or more, even when the body is at rest. This high pressure in the blood vessels that transport blood from the heart to the lungs can cause various symptoms, including shortness of breath, can lead to right heart failure, and significantly affect the overall quality of life.
There are various classifications for PH, each relating to different underlying causes and also...
There are various classifications for PH, each relating to different underlying causes and also...
231
Lysosomal Hydrolases
3.8K
Lysosomes are the site for the degradation of macromolecules and biological polymers released during membrane trafficking events such as secretory, endocytic, autophagic, and phagocytic pathways. The membrane-enclosed area of the lysosome, called the lumen, contains hydrolytic enzymes active in an acidic environment. These acid hydrolases are functional at a pH between 4.5 and 5 and are involved in cellular processes such as cell signaling, energy metabolism, restoration of the plasma membrane,...
3.8K

