Telfer Sugar Jaeger Syndrome

Telfer Sugar Jaeger综合征

更新于：2024-11-01

基本信息

别名

PIEBALD TRAIT WITH NEUROLOGIC DEFECTS、Piebald trait neurologic defects、Piebald trait with neurologic defects syndrome

+ [7]

简介

A rare genetic pigmentation anomaly of the skin syndrome with characteristics of ventral as well as dorsal leukoderma of the trunk and a congenital white forelock in association with cerebellar ataxia, impaired motor coordination, intellectual disability of variable severity and progressive, mild to profound, unilateral or bilateral sensorineural hearing loss. There have been no further descriptions in the literature since 1971.

关联

100 项与 Telfer Sugar Jaeger综合征相关的临床结果

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100 项与 Telfer Sugar Jaeger综合征相关的转化医学

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0 项与 Telfer Sugar Jaeger综合征相关的专利（医药）

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项与 Telfer Sugar Jaeger综合征相关的文献（医药）

2022-06-01·Obstetrical & Gynecological Survey

Pregnancy-Related Stroke: A Review

Review

作者: Phelps, Emily N. ; Doiron, Tucker ; Magann, Everett F. ; Hollenbach, Laura L. ; Ramseyer, Abigail ; Williams, Anne J. ; Teal, Linda N.

ImportanceThe maternal risk of strokes in the United States is approximately 30/100,000 pregnancies, and strokes are the eighth leading cause of maternal death. Because of the relationship between stroke and significant neurological disability/maternal death, obstetrical health care providers must be able to identify, evaluate, diagnosis, and treat these women.Evidence AcquisitionPubMed was searched using the search terms “stroke” OR “cerebrovascular accident” OR “intracranial hemorrhage” AND “pregnancy complications” OR “risk factors” OR “management” OR “outcome.” The search was limited to the English language and was restricted to articles from 2000 to 2020.ResultsThere were 319 abstracts identified, and 90 of the articles were ultimately used as the basis of this review. Presenting stroke signs and symptoms include headache, composite neurologic defects, seizures, and/or visual changes. Diagnosis is typically made with computed tomography scan using abdominal shielding or magnetic resonance imaging without contrast. Management options for an ischemic stroke include reperfusion therapy with intravenous recombinant tissue plasminogen activator catheter-based thrombolysis and/or mechanical thrombectomy. Hemorrhagic strokes are treated similarly to strokes outside of pregnancy, and that treatment is based on the severity and location of the hemorrhage.Conclusions and RelevanceEarly recognition and management are integral in decreasing the morbidity and mortality associated with a stroke in pregnancy.Relevance StatementThis study was an evidence-based review of stroke in pregnancy and how to diagnose and mange a pregnancy complicated by a stroke.Target AudienceObstetricians and gynecologist, family physiciansLearning ObjectivesAfter completing this learning activity, the participant should be better able to identify the pregnancy-related risk factors for a stroke; explain the presenting signs and symptoms of a stroke in pregnancy; describe the imaging modalities available to diagnose a stroke; and outline treatment options for an ischemic stroke and a hemorrhagic stroke.

2020-09-12·Cureus

Spontaneous Spinal Epidural Hematoma Secondary to Rivaroxaban Use in a Patient With Paroxysmal Atrial Fibrillation

作者: Raeouf, Armaghan ; Goyal, Siddarth ; Van Horne, Nicole ; Traylor, Jeremy

A spontaneous spinal epidural hematoma (SSEH) is a rare condition of intraspinal bleeding in the epidural space. It is often associated with disorders of anticoagulation, intraspinal tumors, vascular malformations, and pertinent to this case, anticoagulation therapy. This surgical emergency requires early diagnosis and management in order to minimize permanent neurologic deficits. We report the case of a 72-year-old female with a past medical history of paroxysmal atrial fibrillation treated with rivaroxaban who presented to the emergency department with acute-onset, midline, lower back pain with no known trauma or injury to the area. At the time of emergency department (ED) admission, the patient was fully ambulatory and alert and oriented. However, within hours, she developed bilateral lower extremity motor paralysis and diminished sensation with urinary and bowel incontinence. SSEHs are rare, progressive neurologic emergencies that can present with non-specific lower back pain. This condition presents a diagnostic challenge that can result in permanent neurologic defects if not recognized early. Emergency physicians regularly encounter patients with both acute lower back pain and atrial fibrillation. This case can contribute to the possibility of SSEH to a differential diagnosis.

2016-11-01·World Neurosurgery4区 · 医学

Indirect Bypass Surgery May Be More Beneficial for Symptomatic Patients with Moyamoya Disease at Early Suzuki Stage

4区 · 医学

Article

作者: Yu, Xiaobo ; Gu, Chi ; Qian, Cong ; Fu, Xiongjie ; Chen, Gao ; Wang, Lin ; Chen, Jingyin ; Chen, Ting

OBJECTIVEMoyamoya disease is a progressive stenosis or occlusion of the internal carotid artery. Revascularization surgery is considered the standard treatment. We conducted a retrospective study in hopes of finding indications for electing different surgical methods.METHODSA total of 55 hemispheres in 49 patients who received revascularization surgery between January 2013 and December 2015 were included. Medical data such as age and sex were extracted and risk factor analysis for vascular anastomosis patency was conducted with multivariable logistic regression.RESULTSIn this study, direct or combined bypass surgery had a higher incidence of perioperative neurologic defects than did indirect surgery (30.3% vs. 4.5%; P = 0.046). The rates of postsurgery stroke (6.2% vs. 18.2%) and modified Rankin Scale improvement (39.4% vs. 18.2%) were better in the direct or combined bypass surgery group, but no significant difference was found. Moreover, longer operative time (209 ± 29.4 minutes vs. 101 ± 16.5 minutes; P < 0.01) and longer hospital stay (9.0 ± 3.11 days vs. 5.3 ± 2.03 days; P < 0.01) made direct or combined bypass surgery less advantageous. Multivariable binary logistic regression showed that the late Suzuki stage is a more favorable factor than the early Suzuki stage (odd ratio, 7.78; confidence interval, 1.059-57.155; P = 0.044).CONCLUSIONSBecause vascular anastomosis patency in symptomatic patients with moyamoya disease at early Suzuki stage is relatively lower, indirect bypass surgery may be more beneficial for these patients in view of shorter operative time and hospital stay.

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