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排序方式: 共有225条查询结果,搜索用时 31 毫秒
1.
Laura McGillis Nimish Mittal Daniel Santa Mina Joyce So Medha Soowamber Aliza Weinrib Leslie Soever Dmitry Rozenberg Louis Liu Yvonne Tse Joel Katz George S Charames Kieran Murphy Peter Vadas Maxwell P Slepian Scott Walsh Lindsay Wilson Arnon Adler Alyssa Franzese Laura Hussey Dayna‐Lynn Nevay Juan Guzman Hance Clarke 《American journal of medical genetics. Part A》2020,182(3):484-492
The new 2017 diagnostic criteria for hypermobile Ehlers–Danlos Syndrome (hEDS) provide a framework for diagnosing hEDS but are more stringent than the previous Villefranche criteria. Our clinical experience at the GoodHope EDS clinic was that the 2017 criteria left many highly symptomatic patients without a diagnosis of hEDS. We conducted a retrospective cohort study to confirm our clinic experience and assess the accuracy of the 2017 diagnostic criteria for hEDS in patients who had a previous hEDS diagnosis based on the Villefranche criteria. Our study found that 15% (n = 20 of 131) of patients with a prior diagnosis of hEDS met the 2017 diagnostic criteria, and many of the traits used to distinguish hEDS were not significantly more frequent in patients who met 2017 criteria versus those who did not. In both groups objective systemic manifestations were found less frequently than subjective systemic manifestations. Beighton score (BS) as assessed by primary care practitioner was found to be higher than assessment by EDS practitioner in 81% (n = 74 of 91) of cases. Generalized joint hypermobility was confirmed in only 46% (n = 51 of 111) of patients who had a previous diagnosis of hEDS. Higher BS did not correlate with increased number of systemic manifestations in our cohort. Common comorbidities of hEDS were found with similar frequency in those who met 2017 criteria and those who did not. Based on our cohort, the 2017 hEDS diagnostic criteria require refinement to improve its diagnostic accuracy. 相似文献
2.
Thomas Kertesz Medha Soowamber Justin Bubola David J. Psutka Grace Bradley 《Head and neck pathology》2021,15(1):244
We describe a case of granulomatosis with polyangiitis (GPA; formerly named Wegener granulomatosis) that presented initially as florid areas of gingival swelling. The patient also had upper respiratory symptoms that included sinus congestion and cough of recent onset. Clinical-pathologic correlation aided the interpretation of non-specific biopsy findings and immediate referral to an appropriate medical specialist. Treatment was rendered at an early stage of disease with a good response to date. Review of the literature indicates that gingival swelling, often with the characteristic appearance of “strawberry gingivitis” may represent the initial sign of disease in 2% of patients with GPA. Biopsy of gingival lesions often shows a non-specific histologic appearance that should be interpreted in the context of the clinical appearance and pertinent medical history. The clinical investigations that lead to definitive diagnosis and treatment are presented to facilitate the management of this uncommon but potentially fatal condition. 相似文献
3.
Mahmut Gümüş MD Chieh-I Chen MPH Cristina Ivanescu PhD Saadettin Kilickap MD Igor Bondarenko MD Mustafa Özgüroğlu MD Miranda Gogishvili MD Haci M. Turk MD Irfan Cicin MD James Harnett PharmD Vera Mastey MS Ulrike Naumann MS Matthew Reaney MS Gerasimos Konidaris MS Medha Sasane PhD Keri J. S. Brady PhD Siyu Li PhD Giuseppe Gullo MD Petra Rietschel MD Ahmet Sezer MD 《Cancer》2023,129(1):118-129
4.
ObjectiveShortness of breath is a common complaint for which the elderly seek medical attention in the emergency department (ED). Differentiating cardiac from respiratory causes of dyspnoea in this population is quite a challenge. N Terminal pro brain-natriuretic-peptide (NT proBNP) has been studied extensively as a biomarker of left ventricular (LV) failure.MethodsThe NT proBNP was measured in 100 patients above 60 years of age who presented to the ED with shortness of breath. The level was compared with echocardiographic findings to assess correlation with ejection fraction (EF).ResultsThe NT proBNP values increased significantly as the functional severity of heart failure (HF) increased (P < 0.001). The mean NT proBNP level was 1503.33 pg/mL. Patients with respiratory causes of dyspnoea had a mean NT proBNP level of 309.28 pg/mL with normal LV function.ConclusionThe NT proBNP levels had a good correlation with worsening LVEF. 相似文献
5.
M. Sue Kirkman MD Vanessa Jones Briscoe PhD NP CDE Nathaniel Clark MD MS RD Hermes Florez MD MPH PhD Linda B. Haas PHC RN CDE Jeffrey B. Halter MD Elbert S. Huang MD MPH Mary T. Korytkowski MD Medha N. Munshi MD Peggy Soule Odegard BS PharmD CDE Richard E. Pratley MD Carrie S. Swift MS RD BC‐ADM CDE 《Journal of the American Geriatrics Society》2012,60(12):2342-2356
6.
As the number of older adults increases in the United States and worldwide, management of patients with multiple coexisting
chronic diseases has become a critical component in health care. Management of diabetes is particularly challenging in this
population due to significant risks of microvascular and macrovascular diseases on the one hand, and complications of the
treatment strategies (e.g., hypoglycemia) with intensive control on the other hand. To provide a balanced approach to diabetes
in the elderly, a comprehensive and holistic strategy, with consideration of overall health, functional status, psychosocial
environment, financial resources and, finally but most importantly, quality of life is needed. Understanding the unique challenges
faced by older adults with diabetes and issues pertaining to antidiabetes medications with aging is an important first step
in the direction of better and tailored care of this burgeoning population. 相似文献
7.
Background
Dopa responsive dystonia is characterized by progressive disabling dystonia, diurnal variation and a dramatic response to Levodopa.Case characteristics
Two siblings presented with regression of motor milestones and hypertonia in lower limbs. History of diurnal variation was present in elder sibling.Outcome
Both responded dramatically to Levodopa. The genomic DNA analysis of elder sibling revealed a novel mutation.Message
A trial of Levodopa should be considered in a child with motor regression with diurnal variation, in the presence of extrapyramidal features.8.
9.
Namita G. Hattangady Medha S. Rajadhyaksha 《International journal of diabetes in developing countries.》2009,29(4):143-149
The neuropathies of the peripheral, central and autonomic nervous systems are known to be caused by hyperglycemia, a consequence of the deregulation of glucose in diabetes. Several in vivo models such as streptozotocin-induced diabetic rats, mice and Chinese hamsters have been used to study the pathogenesis of diabetic neuropathy because of their resemblance to human pathology. However, these in vivo models have met with strong ethical oppositions. Further, the system complexity has inherent limitations of inconvenience of analyzing ephemeral molecular events and crosstalk of signal transduction pathways. Alternative in vitro models have been selected and put to effective use in diabetic studies. We critically review the use of these in vitro models such as primary cultures of dorsal root ganglia, Schwann cells and neural tissue as well as neural cell lines which have proved to be excellent systems for detailed study. We also assess the use of embryo cultures for the study of hyperglycemic effects on development, especially of the nervous system. These systems function as useful models to scrutinize the molecular events underlying hyperglycemia-induced stress in neuronal systems and have been very effectively used for the same. This comprehensive overview of advantages and disadvantages of in vitro systems that are currently in use will be of interest especially for comparative assessment of results and for appropriate choice of models for experiments in diabetic neuropathy. 相似文献
10.
Biomarkers of cardiac injury: an update 总被引:3,自引:0,他引:3
Conventional and promising new markers of myocardial injury have become an important diagnostic tool and their prognostic significance is also recognized. In addition, they help identify patients who will derive the most benefit from therapeutic interventions. The literature was searched from the websites of the National Library of Medicine (http://www.ncbi.nlm.nih.gov/) and PubMed Central, the U.S. National Library of Medicine's digital archive of life sciences journal literature (http://www.pubmedcentral.nih.gov/). The data were accessed from books and journals that published relevant articles in this field. The diagnosis of acute myocardial infarction (AMI) has traditionally relied on the combination of chest pain, ECG features, and elevation in serum markers. However, chest symptoms are frequently atypical or absent and ECG changes may be nonspecific or absent. Hence, the diagnosis of acute coronary syndromes has become increasingly dependent on serum markers of cardiac injury. Among them, creatine kinase (CK) is an effective and widely used test, with the recent CKMB assay offering greater specificity and sensitivity. Cardiac troponins facilitate early and rapid diagnosis, enable effective risk stratification in patients with AMI (with or without traditional criteria for MI), and identify those who will benefit from aggressive medical or surgical intervention. Recent data suggest the potential of myoglobin and CKMB isoforms as sensitive markers in the early hours after symptom onset. Cardiac-specific troponins help in rapid diagnosis, prognostication, and treatment of AMI. Troponins also facilitate early detection of recent infarction owing to their prolonged diagnostic window and also aid in the detection of "microinfarction.' CKMB is used to detect reinfarction or infarct extension, if levels rise again after declining. Finally, novel biochemical markers are receiving attention in ongoing trials. They may prove to be more effective in diagnosis and prognosis than their existing counterparts. 相似文献