Ehlers‐Danlos syndrome

  • 文章类型: Case Reports
    无效变异的患者可能患有轻度血管Ehlers-Danlos综合征,呈现看似非特异性的投诉和微妙的皮肤特征,可能会错过。高度怀疑和早期基因检测(借助下一代测序)对于预防患者和家庭成员危及生命的并发症至关重要。
    Patients with null variants may have milder vascular Ehlers-Danlos syndrome, presenting with seemingly non-specific complaints and subtle cutaneous features that may be missed. A high index of suspicion and early genetic testing (aided by next-generation sequencing) were crucial for prevention of life-threatening complications in the patient and family members.
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  • 文章类型: Case Reports
    Ehlers-Danlos综合征患者尿路结石的治疗,结缔组织疾病,很少有报道。
    一名33岁的Ehlers-Danlos综合征患者寻求家庭医生对右侧腹痛的评估。注意到右侧肾积水,并将她转诊到我们医院进行进一步评估和治疗。在右输尿管膀胱交界处显示最大直径为8mm的输尿管结石。全麻下经尿道碎石术无并发症。
    Ehlers-Danlos综合征患者可以安全地进行碎石术。
    UNASSIGNED: Treatment of urinary tract calculi in patients with Ehlers-Danlos syndrome, a connective tissue disorder, has rarely been reported.
    UNASSIGNED: A 33-year-old woman with Ehlers-Danlos syndrome sought evaluation of right-sided abdominal pain from her family physician. Right-sided hydronephrosis was noted and she was referred to our hospital for further evaluation and treatment. A ureteral calculus with a maximum diameter of 8 mm was demonstrated at the right ureterovesical junction. Transurethral lithotripsy was performed under general anesthesia without complications.
    UNASSIGNED: Lithotripsy may be safely performed in patients with Ehlers-Danlos syndrome.
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  • 文章类型: Journal Article
    UASSIGNED:功能性运动障碍(FMD)的表型多样性被认为是其许多病因亚型的反映。Ehlers-Danlos综合征(EDS),关节过度活动综合症,也有不同的表型,其中可能包括功能性症状。
    联合诊断FMD和EDS的患病率。
    未经授权:我们搜索了电子病历中携带EDS和FMD诊断代码的患者。通过图表审查进一步提取数据。
    未经评估:在2016年1月1日至2022年5月1日评估的11,621名患者中,有16名被诊断为EDS,其中9人(56.3%)也被诊断为口蹄疫。相反,在190(1.6%)中记录了口蹄疫的诊断,其中16人(8.4%)被诊断为EDS。在所有EDS-FMD病例中,EDS的诊断先于FMD的发病和诊断。
    UNASSIGNED:口蹄疫和EDS的共同出现是不可能的,建议协会。EDS可能代表前驱亚型,并具有共同的病理生理特征,口蹄疫。
    UNASSIGNED: The phenotypic diversity of functional movement disorders (FMD) is considered a reflection of its many etiological subtypes. Ehlers-Danlos syndrome (EDS), a joint hypermobility syndrome, also has variable phenotypes, which may include functional symptoms.
    UNASSIGNED: To determine the prevalence of combined diagnoses of FMD and EDS.
    UNASSIGNED: We searched our Electronic Medical Records for patients carrying diagnostic codes for EDS and FMD. Further data extraction was done through chart review.
    UNASSIGNED: Of 11,621 patients evaluated from January 1, 2016 to May 1, 2022, 16 carried a diagnosis of EDS, of which 9 (56.3%) were also diagnosed with FMD. Conversely, a diagnosis of FMD was documented in 190 (1.6%), of whom 16 (8.4%) were diagnosed with EDS. In all EDS-FMD cases, the diagnosis of EDS preceded the onset and diagnosis of FMD.
    UNASSIGNED: The co-occurrence of FMD and EDS is beyond chance, suggesting association. EDS may represent a prodromal subtype of, and share common pathophysiologic features with, FMD.
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  • 文章类型: Case Reports
    COL1相关的重叠障碍是一种情况,这尚未被视为2017年EDS分类的一部分。然而,对于任何患有高移动性EDS的患者,应将其作为替代诊断进行研究.这可以提供适当的遗传咨询。
    COL1-related overlap disorder is a condition, which is not yet considered as part of the 2017 EDS classification. However, it should be investigated as an alternative diagnosis for any patient with hypermobile EDS. This could allow providing appropriate genetic counseling.
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  • 文章类型: Journal Article
    二尖瓣脱垂(MVP)是一种常见的心脏疾病,由收缩期二尖瓣小叶的扩大和上移位定义。虽然通常被视为一种独立的疾病,在病例报告和各种遗传综合征患者的小型研究中也描述了MVP。在这次审查中,我们分析了以前曾报道过与MVP相关的综合征中MVP的患病率.我们进一步讨论了在这些综合征中导致MVP的共同生物学途径,以及MVP如何反过来导致各种心脏和非心脏并发症。我们发现了105项研究,确定了18种不同遗传类型的二尖瓣异常患者,发展,和结缔组织疾病。我们表明,一些以前认为MVP患病率增加的疾病,包括成骨不全症,脆性X综合征,唐氏综合症,和弹性假性黄瘤,很少有研究使用该疾病的最新诊断标准,因此可能高估了该综合征中MVP的患病率。此外,我们强调,与早期将MVP描述为良性实体的研究相反,患者所经历的临床过程可能是异质性的,并可能导致显著的心血管疾病发病率和死亡率.目前只有MVP的手术矫正是治愈的,但它是保留的严重病例中,MVP的不可逆并发症可能已经建立;因此,对于MVP患者,可能有必要对临床指南进行回顾以允许早期手术干预,从而降低心血管风险.
    Mitral valve prolapse (MVP) is a commonly occurring heart condition defined by enlargement and superior displacement of the mitral valve leaflet(s) during systole. Although commonly seen as a standalone disorder, MVP has also been described in case reports and small studies of patients with various genetic syndromes. In this review, we analyzed the prevalence of MVP within syndromes where an association to MVP has previously been reported. We further discussed the shared biological pathways that cause MVP in these syndromes, as well as how MVP in turn causes a diverse array of cardiac and noncardiac complications. We found 105 studies that identified patients with mitral valve anomalies within 18 different genetic, developmental, and connective tissue diseases. We show that some disorders previously believed to have an increased prevalence of MVP, including osteogenesis imperfecta, fragile X syndrome, Down syndrome, and Pseudoxanthoma elasticum, have few to no studies that use up-to-date diagnostic criteria for the disease and therefore may be overestimating the prevalence of MVP within the syndrome. Additionally, we highlight that in contrast to early studies describing MVP as a benign entity, the clinical course experienced by patients can be heterogeneous and may cause significant cardiovascular morbidity and mortality. Currently only surgical correction of MVP is curative, but it is reserved for severe cases in which irreversible complications of MVP may already be established; therefore, a review of clinical guidelines to allow for earlier surgical intervention may be warranted to lower cardiovascular risk in patients with MVP.
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  • 文章类型: Case Reports
    A patient with a diagnosis of Ehlers-Danlos syndrome was scheduled to undergo elective caesarean section with a combined spinal-epidural anaesthetic technique. The epidural attempt resulted in an inadvertent dural puncture, and we decided subsequently to place an intrathecal catheter. She required high repeated doses of hyperbaric bupivacaine (32.5 mg over 1 h) through the catheter to establish adequate sensory blockade, together with supplemental analgesic techniques. Soon after the procedure, she recovered motor function rapidly and required further supplemental analgesia. We believe this is the first report of possible local anaesthetic resistance with an intrathecal catheter anaesthetic technique for a patient with Ehlers-Danlos syndrome. If there is resistance to the first dose of intrathecal local anaesthetic, a general anaesthetic may be the best option for such patients.
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  • 文章类型: Case Reports
    一个来自服务不足社区的1岁女孩表现出烦躁,疼痛,和延迟运动技能。我们的遗传学外展计划促进了Ehlers-Danlos综合征的诊断,该综合征在注意到过度伸展的皮肤后伪装成发育迟缓。该家族的诊断允许对这种罕见疾病进行最先进的心脏监测和适当的对症治疗。
    A 1-year-old girl from an underserved community presented with irritability, pain, and delayed motor skills. Our genetics outreach program facilitated the diagnosis of Ehlers-Danlos syndrome masquerading as developmental delay after noting hyperextensible skin. Diagnosis for this family allows for state-of-the-art cardiac monitoring and appropriate symptomatic treatment for this rare disease.
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