X-linked Retinoschisis

X-linked retinoschisis (XLRS) is a degenerative retinal disease, often affecting men, characterized by progressive dissociation in the inner layers of the retina with negative electroretinography (ERG). In this review, the clinical presentation of the disease, diagnostic tests, the pathophysiology of the disease, treatment options to date, and possible treatment alternatives in the future are aimed to be examined.

2012 ◽  
Vol 21 (3) ◽  
pp. 75-84
Author(s):  
Venkata Vijaya K. Dalai ◽  
Jason E. Childress ◽  
Paul E Schulz

Dementia is a major public health concern that afflicts an estimated 24.3 million people worldwide. Great strides are being made in order to better diagnose, prevent, and treat these disorders. Dementia is associated with multiple complications, some of which can be life-threatening, such as dysphagia. There is great variability between dementias in terms of when dysphagia and other swallowing disorders occur. In order to prepare the reader for the other articles in this publication discussing swallowing issues in depth, the authors of this article will provide a brief overview of the prevalence, risk factors, pathogenesis, clinical presentation, diagnosis, current treatment options, and implications for eating for the common forms of neurodegenerative dementias.


VASA ◽  
2020 ◽  
Vol 49 (5) ◽  
pp. 422-426
Author(s):  
Manuela Nickler ◽  
Sebastian Haubitz ◽  
Adriana Méndez ◽  
Martin Gissler ◽  
Peter Stierli ◽  
...  

Summary: In phlegmasia cerulea dolens (PCD), immediate diagnosis and prompt treatment is crucial for limb salvage. Aggressive treatment options including venous intervention, thrombolysis and/or surgical thrombectomy should be considered. Due to the lack of data, the most appropriate intervention depends upon etiology of PCD, clinical presentation and patient’s bleeding risk.


2020 ◽  
Vol 41 (Supplement_2) ◽  
Author(s):  
A Tsiachristas ◽  
H West ◽  
E.K Oikonomou ◽  
B Mihaylova ◽  
N Sabharwall ◽  
...  

Abstract Background The National Institute for Health and Care Excellence (NICE) updated their guidance for the management of patients with stable chest pain and recommended that all patients undergo computed tomography coronary angiography (CTCA). This update has sparked a great deal of debate, and was followed by upgrade of CTCA into a Class I indication in the recent ESC guidelines. The cost-effectiveness of using CTCA as first line investigation is still unclear. Purpose To describe the current clinical pathway of patients with stable chest pain presented to outpatient clinics, assess the compliance with the updated NICE guideline, and explore the costs and health outcomes of different non-invasive diagnostic tests in real-world clinical setting. Methods We used data of 4,297 patients who attended chest pain clinics in Oxford between 1 January 2014 and 31 July 2018. Data included clinical presentation (e.g. age and previous cardiovascular conditions), diagnostic tests, outpatient visits, hospitalization, and hospital mortality and was compared between 6 alternative first-line diagnostic tests. Multinomial regressions were performed to estimate the probability of receiving each alternative and the associated cost after adjusting for clinical presentation. A decision tree was developed to describe the clinical pathway for each alternative first-line diagnostic in terms of subsequent diagnostic tests and treatments and to estimate the associated costs and life days. Results The proportion of patients who received CTCA as first line diagnostic test increased from 1% in 2014 to 17% in 2018, while the publication of the updated NICE guidelines in 2016 led to a threefold increase in this proportion. CTCA is less likely to be provided as a first-line diagnostic to patients who are younger age, males, smokers, and have angina, PVD, or diabetes. The standardised rate of hospital admission was the lowest in the exercise ECG cohort (0.35 admissions per 1,000 life-days) followed by the CTCA cohort (0.40 admissions per 1,000 life-days) while the latter cohort had the lowest standardised rate of cardiovascular treatment (2.74% per 1,000 life days). Stress echocardiography and MPS were associated with higher costs compared with CTCA, other ECG, and exercise ECG after adjusting for clinical presentation and days of follow-up. CTCA is the pathway most likely to be cost-effective, even compared to exercise ECG, while the other diagnostic alternatives are dominated (i.e. they cost more for less life-days). Conclusions Currently, the updated NICE guidelines for stable chest pain are implemented only to a fifth of the cases in England. Our findings support existing evidence that CTCA is the most-cost effective first-line diagnostic test for this population. Hopefully, this will inform the debate around the implementation of the guidelines and help commissioning and clinical decision processes worldwide. Funding Acknowledgement Type of funding source: Public grant(s) – National budget only. Main funding source(s): National Institute of Health Research Oxford Biomedical Research Centre


1985 ◽  
Vol 5 (6) ◽  
pp. 470-475 ◽  
Author(s):  
Cindy Dunham ◽  
William D. Mattern ◽  
William C. McGaghie

2013 ◽  
Vol 2013 ◽  
pp. 1-8 ◽  
Author(s):  
Hope T. Jackson ◽  
Timothy D. Kane

Gastroesophageal reflux (GER) is common in the pediatric population. Most cases represent physiologic GER and as the lower esophageal sphincter (LES) matures and a solid diet is introduced, many of these patients (>65%) experience spontaneous resolution of symptoms by two years of age. Those who continue to have symptoms and develop complications such as failure to thrive, secondary respiratory disease, and others are classified as having gastroesophageal reflux disease (GERD). Goals of GERD treatment include the resolution of symptoms and prevention of complications. Treatment options to achieve these goals include dietary or behavioral modifications, pharmacologic intervention, and surgical therapy. This paper will review the clinical presentation of GERD and discuss options for surgical management and outcomes in these patients.


2021 ◽  
Vol 72 (1) ◽  
pp. 199-213
Author(s):  
Robert P. Hirten ◽  
Bruce E. Sands

Ulcerative colitis (UC) is a relapsing and remitting inflammatory disease of the colon with a variable course. Despite advances in treatment, only approximately 40% of patients achieve clinical remission at the end of a year, prompting the exploration of new treatment modalities. This review explores novel therapeutic approaches to UC, including promising drugs in various stages of development, efforts to maximize the efficacy of currently available treatment options, and non-medication-based modalities. Treatment approaches which show promise in impacting the future of UC management are highlighted.


2018 ◽  
Vol 10 (7) ◽  
pp. 644-648 ◽  
Author(s):  
Leonardo Renieri ◽  
Eytan Raz ◽  
Giuseppe Lanzino ◽  
Timo Krings ◽  
Maksim Shapiro ◽  
...  

Background and purposeSpinal arterial aneurysms are a rare cause of spinal subarachnoid hemorrhage (SAH). We performed a retrospective review of spinal arterial aneurysms not associated with spinal arteriovenus shunts from three institutions in order to better understand the clinical and imaging characteristics of these lesions.Materials and methodsWe performed a retrospective review of spinal arterial aneurysms managed at three North American institutions. For each patient, the following information was collected: demographic data, clinical presentation, comorbidities, imaging findings, and neurological status at the last follow-up. Treatment strategies and outcomes were reported.Results11 patients were included; 7 were women and median age was 60 years. The most common presentation was sudden back pain (81.8%). We found 3 aneurysms on the radiculomedullary artery and 8 along the radiculopial arteries. Of the 3 aneurysms on the radiculomedullary artery, 1 was treated conservatively, 1 was treated with coiling of the aneurysm and sacrifice of the radiculomedullary artery, and 1 was treated with surgical trapping. The 8 aneurysms on the radiculopial artery were treated endovascularly in 4 cases, surgically in 1 case, and conservatively in 3 cases. One surgically treated patient had a spinal subdural hematoma. There were no other complications. Mean clinical follow-up time was 20 months, and 87.5% of patients were functionally independent.ConclusionsSpinal arterial aneurysms are lesions which commonly present with sudden back pain and spinal SAH. Conservative, surgical, and endovascular treatment options are safe and effective. Long term outcomes in these patients are generally good.


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