Abstract:
:Physicians must be able to recognize stroke caused by a mendelian or mitochondrial disorder. Some genetic disorders such as sickle cell anemia and Fabry disease have proven disease-specific treatments, whereas others have no effective treatment, including cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) and mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS). Proper diagnosis of a genetic disorder has prognostic value and prevents patient exposure to unnecessary and potentially harmful therapeutic agents and diagnostic tests. This article reviews the clinical and genetic features of some mendellan and mitochondrial disorders associated with ischemic stroke, hemorrhagic stroke, and cerebrovascular malformations.
journal_name
Mayo Clin Procjournal_title
Mayo Clinic proceedingsauthors
Meschia JF,Brott TG,Brown RD Jrdoi
10.1016/S0025-6196(11)62969-8keywords:
subject
Has Abstractpub_date
2005-01-01 00:00:00pages
122-32issue
1eissn
0025-6196issn
1942-5546pii
S0025-6196(11)62969-8journal_volume
80pub_type
杂志文章,评审abstract::After the completion of the Human Genome Project, there has been an acceleration in methodologies on sequencing nucleic acids (DNA and RNA) at a high precision and with ever-decreasing turnaround time and cost. Collectively, these approaches are termed next-generation sequencing and are already affecting the transform...
journal_title:Mayo Clinic proceedings
pub_type: 杂志文章,评审
doi:10.1016/j.mayocp.2017.03.002
更新日期:2017-05-01 00:00:00
abstract:OBJECTIVE:To investigate the incidence and risk of adverse clinical outcomes in a "real-world" cohort of patients with atrial fibrillation (AF) anticoagulated with vitamin K antagonists (VKAs) from the Murcia AF Project in comparison with the warfarin arm of the randomized clinical trial (RCT) AMADEUS (Evaluating the U...
journal_title:Mayo Clinic proceedings
pub_type: 杂志文章
doi:10.1016/j.mayocp.2018.01.028
更新日期:2018-08-01 00:00:00
abstract:OBJECTIVE:To determine the frequency of fetal urinary tract anomalies and to characterize the types of such abnormalities detected on ultrasonography and the outcome of affected patients during a 15-year period at our institution. DESIGN:We retrospectively reviewed the findings on maternal prenatal ultrasound examinat...
journal_title:Mayo Clinic proceedings
pub_type: 杂志文章
doi:10.4065/70.6.526
更新日期:1995-06-01 00:00:00
abstract::Pacemaker therapy is most commonly initiated because of symptomatic bradycardia, usually resulting from sinus node disease. Randomized multicenter trials assessing the relative benefits of different pacing modes have made possible an evidence-based approach to the treatment of bradyarrhythmias. During the past several...
journal_title:Mayo Clinic proceedings
pub_type: 杂志文章,评审
doi:10.4065/83.10.1170
更新日期:2008-10-01 00:00:00
abstract:OBJECTIVE:To analyze a large cohort of patients who underwent exercise testing and also report sex differences in other exercise heart rate (HR) parameters to determine whether separate sex-based equations to predict peak HR are indicated. PATIENTS AND METHODS:Patients aged 40 to 89 years who performed treadmill exerc...
journal_title:Mayo Clinic proceedings
pub_type: 杂志文章
doi:10.1016/j.mayocp.2014.08.018
更新日期:2014-12-01 00:00:00
abstract::Endorectal ultrasonography is a valuable imaging method for examination of the rectum and perirectal tissues. We assessed 50 patients with known rectal carcinoma prospectively by using a 7.0-MHz endorectal transducer to determine the depth of invasion of the rectal wall by tumor and the presence of lymphadenopathy. Tu...
journal_title:Mayo Clinic proceedings
pub_type: 杂志文章
doi:10.1016/s0025-6196(12)62192-2
更新日期:1990-12-01 00:00:00
abstract::Nonalcoholic steatohepatitis (NASH) is a liver disease that, until recently, has been underrecognized as a common cause of elevated liver enzymes. This distinct clinical entity is characterized by liver biopsy findings similar to those seen in alcoholic hepatitis but in the absence of alcohol consumption sufficient to...
journal_title:Mayo Clinic proceedings
pub_type: 杂志文章,评审
doi:10.4065/75.7.733
更新日期:2000-07-01 00:00:00
abstract::In the last 20 years, the treatment of mood disorders has advanced immeasurably. We now have relatively safe and effective agents for the treatment of depression and mania. This review discusses two types of agents that elevate mood--tricyclic antidepressants and monoamine oxidase inhibitors--including the indications...
journal_title:Mayo Clinic proceedings
pub_type: 杂志文章,评审
doi:
更新日期:1979-05-01 00:00:00
abstract:OBJECTIVE:To report the long-term follow-up of a matched comparison of radical nephrectomy (RN) and nephron-sparing surgery (NSS) in patients with single unilateral renal cell carcinoma (RCC) and a normal contralateral kidney. PATIENTS AND METHODS:Between August 1966 and March 1999, 1492 and 189 patients with unilater...
journal_title:Mayo Clinic proceedings
pub_type: 杂志文章
doi:10.4065/75.12.1236
更新日期:2000-12-01 00:00:00
abstract::Cephalosporins are broad-spectrum antimicrobial agents that are often used empirically to treat suspected bacterial infections and also to treat culture-proven infections due to selected gram-positive and gram-negative microorganisms. Cephalosporins differ widely in their spectrum of activity, susceptibility to beta-l...
journal_title:Mayo Clinic proceedings
pub_type: 杂志文章,评审
doi:10.1016/s0025-6196(12)61731-5
更新日期:1991-10-01 00:00:00
abstract::The evaluation of the patient with diarrhea can be complex and the treatment challenging. In this article, the definition of diarrhea and the pathophysiologic mechanisms that lead to diarrhea are reviewed. A simplified 5-step approach to the patient with diarrhea is provided and applied in a case-oriented manner appli...
journal_title:Mayo Clinic proceedings
pub_type: 杂志文章
doi:10.1016/j.mayocp.2012.02.015
更新日期:2012-06-01 00:00:00
abstract::Frequently, the presence of endocarditis is disguised. The emphasis of this description of the clinical manifestations of endocarditis is on the various modes of presentation, rather than on individual symptoms and signs. Endocarditis can manifest with cardiac, pulmonary, ophthalmic, central nervous system, renal, ort...
journal_title:Mayo Clinic proceedings
pub_type: 杂志文章
doi:
更新日期:1982-01-01 00:00:00
abstract::The neurologist has become increasingly involved in the multidisciplinary treatment of patients with chronic noncancer pain (CNP). Chronic noncancer pain affects a diverse patient population with multiple underlying diagnoses and associated therapies. Following the model of the American Board of Anesthesiology and the...
journal_title:Mayo Clinic proceedings
pub_type: 杂志文章,评审
doi:10.4065/78.1.80
更新日期:2003-01-01 00:00:00
abstract::Cigarette smoking is the most important preventable cause of morbidity, mortality, and excess health care costs in the United States. From 2000 through 2004, cigarette smoking caused an estimated annual average of 443,595 deaths and cost $193 billion per year in smoking-attributable productivity losses and smoking-rel...
journal_title:Mayo Clinic proceedings
pub_type: 杂志文章,评审
doi:10.1016/S0025-6196(11)60523-5
更新日期:2009-08-01 00:00:00
abstract::We used a laparoscopic technique for the percutaneous placement of the peritoneal end of cerebrospinal fluid shunts in adult patients with obstructive or normal-pressure hydrocephalus. Concurrent with the initial cranial part of the procedure, pneumoperitoneum is established in a routine fashion, and a video-laparosco...
journal_title:Mayo Clinic proceedings
pub_type: 杂志文章
doi:10.1016/s0025-6196(12)60899-4
更新日期:1993-11-01 00:00:00
abstract:OBJECTIVE:To describe 3 patients who presented with chest pain and intermittent Q waves on the electrocardiogram (ECG) and were subsequently found to have latent preexcitation. PATIENTS AND METHODS:During a span of 8 years, 3 patients were evaluated because of atypical chest pain and pathologic Q waves in the inferior...
journal_title:Mayo Clinic proceedings
pub_type: 杂志文章
doi:10.4065/78.7.840
更新日期:2003-07-01 00:00:00
abstract::Many diseases, mainly infectious and inhalational, have been associated with the use of hot tubs. "Hot tub lung" is a recently described disease entity associated with Mycobacterium avium complex (MAC) and is thought to be either an infection or a hypersensitivity pneumonitis. We describe 2 patients with progressively...
journal_title:Mayo Clinic proceedings
pub_type: 杂志文章
doi:10.4065/77.11.1233
更新日期:2002-11-01 00:00:00
abstract::Computed tomography (CT) of the colon is useful in assessment of patients with colonic disease because the entire bowel wall, extraluminal tissues, and adjacent solid organs can be directly visualized. Patients with advanced stage colorectal carcinoma can be reliably identified with CT. This information can assist in ...
journal_title:Mayo Clinic proceedings
pub_type: 杂志文章,评审
doi:10.1016/s0025-6196(12)61291-9
更新日期:1989-10-01 00:00:00
abstract::Patients with ectatic coronary arteries often have occlusion of the affected arteries. Because ectatic arteries are considered to have medial damage, they are normally assumed to have little capacity to constrict; therefore, spasm has not been considered a factor in the occlusive process. In two patients who had diffu...
journal_title:Mayo Clinic proceedings
pub_type: 杂志文章
doi:10.1016/s0025-6196(12)64787-9
更新日期:1985-12-01 00:00:00
abstract::Despite the successful growth of the hospice movement during the past 30 years in the United States, almost 85% of Americans continue to die in hospitals or nursing homes. While the benefits of palliative care principles are well established, palliative care interventions remain underused in clinical practice in the s...
journal_title:Mayo Clinic proceedings
pub_type: 杂志文章,评审
doi:10.4065/75.12.1305
更新日期:2000-12-01 00:00:00
abstract:OBJECTIVE:To assess the pharmacokinetics, toxicity, and efficacy of antineoplastons A10 (NSC 648539) and AS2-1 (NSC 620261). DESIGN:We initiated a phase II trial in order to determine whether evidence of antitumor activity of A10 and AS2-1 could be documented. MATERIAL AND METHODS:Patients with anaplastic astrocytoma...
journal_title:Mayo Clinic proceedings
pub_type: 临床试验,杂志文章
doi:10.4065/74.2.137
更新日期:1999-02-01 00:00:00
abstract::Continuous spontaneous electromyographic activity and responses to electrical stimulation of the facial nerve in the surgical field were monitored in 48 patients undergoing primary removal of an acoustic neuroma. The operative and postoperative results in these patients were compared with the results in 48 patients wh...
journal_title:Mayo Clinic proceedings
pub_type: 杂志文章
doi:10.1016/s0025-6196(12)61876-x
更新日期:1987-02-01 00:00:00
abstract::Severe hypocalcemia may require prompt intervention to avoid life-threatening consequences. We report a case in which a 78-year-old man had a critically low serum calcium level measured with use of standard colorimetric assay after gadodiamide administration during magnetic resonance angiography. Reanalysis of the sam...
journal_title:Mayo Clinic proceedings
pub_type: 杂志文章
doi:10.4065/80.12.1655
更新日期:2005-12-01 00:00:00
abstract::Understanding the sequence of events responsible for pressure-related natriuresis and their pathophysiologic alterations may be useful in distinguishing various types of essential hypertension of renal origin. The perturbation of a distal step in the sequence is likely to be reflected in a simple physiologic defect. F...
journal_title:Mayo Clinic proceedings
pub_type: 杂志文章,评审
doi:10.1016/s0025-6196(12)65384-1
更新日期:1989-11-01 00:00:00
abstract::Data from animal experiments and human studies implicate added sugars (eg, sucrose and high-fructose corn syrup) in the development of diabetes mellitus and related metabolic derangements that raise cardiovascular (CV) risk. Added fructose in particular (eg, as a constituent of added sucrose or as the main component o...
journal_title:Mayo Clinic proceedings
pub_type: 杂志文章,评审
doi:10.1016/j.mayocp.2014.12.019
更新日期:2015-03-01 00:00:00
abstract::An inexpensive and reproducible model to help in developing the technical skills for, and to investigate experimentally, a microvascular anastomosis resembling the superficial temporal-middle cerebral artery bypass is described. The model is used to illustrate the important principles of microvascular surgery. Using a...
journal_title:Mayo Clinic proceedings
pub_type: 杂志文章
doi:
更新日期:1976-05-01 00:00:00
abstract:OBJECTIVE:To prospectively assess the safety and effectiveness of the investigational phosphodiesterase 5 inhibitor avanafil to treat erectile dysfunction in men with diabetes mellitus. PATIENTS AND METHODS:This 12-week, multicenter, double-blind, placebo-controlled study conducted between December 15, 2008, and Febru...
journal_title:Mayo Clinic proceedings
pub_type: 杂志文章,多中心研究,随机对照试验
doi:10.1016/j.mayocp.2012.06.016
更新日期:2012-09-01 00:00:00
abstract::Allergic rhinitis affects 10% to 20% of Americans. It frequently coexists with other conditions, such as allergic conjunctivitis, sinusitis, and asthma, and is associated with impaired occupational function and performance in school, decreased quality of life, and increased health care costs. An efficacious agent with...
journal_title:Mayo Clinic proceedings
pub_type: 杂志文章,评审
doi:10.4065/77.4.350
更新日期:2002-04-01 00:00:00
abstract:OBJECTIVE:To review our institution's experience with patients who failed to benefit from septal artery ablation, which necessitated subsequent septal myectomy, and to examine reasons for ablation failure and outcome of myectomy after ablation. PARTICIPANTS AND METHODS:Of 550 patients who underwent septal myectomy at ...
journal_title:Mayo Clinic proceedings
pub_type: 杂志文章
doi:10.1016/S0025-6196(11)61096-3
更新日期:2007-12-01 00:00:00
abstract::Multiple sclerosis is thought, by many investigators, to be an immunologic disease. Therefore, a rationale exists for treating this disease by immunosuppressive therapy. In exacerbating-remitting multiple sclerosis, corticosteroids and adrenocorticotropic hormone are the most widely used drugs; high doses of intraveno...
journal_title:Mayo Clinic proceedings
pub_type: 临床试验,杂志文章,评审
doi:10.1016/s0025-6196(12)65345-2
更新日期:1989-06-01 00:00:00