Abstract：
:Nine patients with a progressive neurologic disorder that was characterized by mental deterioration, supranuclear vertical gaze paresis, and foam cells or sea-blue histiocytes in the bone marrow are described and compared with patients who were previously described as having " neurovisceral storage disease with vertical supranuclear ophthalmoplegia" and "dystonic lipidosis." The clinical manifestations of our patients and those described by others and the pathologic findings and profiles of lipid analysis reported by others are similar to those in patients with Niemann-Pick disease, type C. Sphingomyelinase activities in leukocytes and skin fibroblasts were normal in our patients and in more than half of the reported cases; these findings are also compatible with those in patients with Niemann-Pick disease, type C. Until the biochemical and genetic abnormalities of Niemann-Pick disease, type C are clearly defined, it is justifiable to classify the disorder under discussion as a subgroup of Niemann-Pick disease, type C because it seems to be a heterogeneous group. From the clinical point of view, the diagnosis is difficult to establish in the absence of abnormalities in the bone marrow in patients who are older than 20 years; repeat examinations of the bone marrow are necessary in such patients. Clinicians should be aware of this disorder not only in patients in the first and second decades of life, when this disorder usually becomes symptomatic, but also in patients in the fourth and fifth decades.
journal_name
Mayo Clin Procjournal_title
Mayo Clinic proceedingsauthors
Yan-Go FL,Yanagihara T,Pierre RV,Goldstein NPdoi
10.1016/s0025-6196(12)61464-5subject
Has Abstractpub_date
1984-06-01 00:00:00pages
404-10issue
6eissn
0025-6196issn
1942-5546pii
S0025-6196(12)61464-5journal_volume
59pub_type
杂志文章abstract：:In August 2015, an expert colloquium commissioned by the Sexual Medicine Society of North America (SMSNA) convened in Washington, DC, to discuss the common clinical scenario of men who present with low testosterone (T) and associated signs and symptoms accompanied by low or normal gonadotropin levels. This syndrome is...
journal_title：Mayo Clinic proceedings
pub_type： 杂志文章,评审
doi：10.1016/j.mayocp.2016.04.022
更新日期：2016-07-01 00:00:00
abstract：:In almost all dialysis patients, bone aluminum content (BAC) is elevated in comparison with levels in normal subjects. Extremely high BAC (200 micrograms or more of aluminum per gram of bone) is significantly associated with classic aluminum-related osteomalacia. We noted three patients with elevated BAC but without h...
journal_title：Mayo Clinic proceedings
pub_type： 杂志文章
doi：10.1016/s0025-6196(12)60539-4
更新日期：1985-05-01 00:00:00
abstract：OBJECTIVE:The current study was undertaken to assess the frequency of excessive enteric protein loss and protein-losing enteropathy in the relatively early period after the Fontan operation. DESIGN:Protein excretion was determined in 26 of 27 consecutive patients who underwent the Fontan procedure between January and ...
journal_title：Mayo Clinic proceedings
pub_type： 杂志文章
doi：10.1016/s0025-6196(12)61035-0
更新日期：1994-02-01 00:00:00
abstract：OBJECTIVE:To gain information regarding long-term follow-up in patients with synchronous bilateral solid renal neoplasms in whom renal-preserving surgery is imperative. PATIENTS AND METHODS:We examined our surgical experience and the survival outcome, as evaluated by Kaplan-Meier and log-rank analysis, of 94 patients ...
journal_title：Mayo Clinic proceedings
pub_type： 杂志文章
doi：10.4065/75.10.1020
更新日期：2000-10-01 00:00:00
abstract：:Cataract operations are commonly performed in either a primary-care or a tertiary-care center. A plethora of information (some of which is unfounded) has been disseminated in the lay news media about the advances in the surgical techniques of cataract removal. This article reviews some of the recent concepts about the...
journal_title：Mayo Clinic proceedings
pub_type： 杂志文章,评审
doi：10.1016/s0025-6196(12)61494-3
更新日期：1984-08-01 00:00:00
abstract：:Allergen immunotherapy involves exposing a patient to a gradually escalating dose of a specific allergen with the intention of decreasing allergic and inflammatory responses, ultimately leading to a sustained decrease in allergic symptoms. A build-up phase (once weekly injections) is followed by a maintenance phase (o...
journal_title：Mayo Clinic proceedings
pub_type： 杂志文章
doi：10.4065/82.9.1119
更新日期：2007-09-01 00:00:00
abstract：OBJECTIVE:To determine the separate effects of exercise intensity and amount on interindividual cardiorespiratory fitness (CRF) response. PARTICIPANTS AND METHODS:Participants were 121 (75 females, 62%) sedentary, middle-aged (mean [SD] age, 53.2 [7.5] years), abdominally obese adults who completed at least 90% of 5 w...
journal_title：Mayo Clinic proceedings
pub_type： 杂志文章,随机对照试验
doi：10.1016/j.mayocp.2015.07.024
更新日期：2015-11-01 00:00:00
abstract：OBJECTIVE:To understand motivations, educational needs, and concerns of individuals contemplating whole-exome sequencing (WES) and determine what amount of genetic information might be obtained by sequencing a generally healthy cohort so as to more effectively counsel future patients. PATIENTS AND METHODS:From 2012 to...
journal_title：Mayo Clinic proceedings
pub_type： 杂志文章
doi：10.1016/j.mayocp.2015.05.021
更新日期：2015-10-01 00:00:00
abstract：:Clinical guidelines for instituting pharmacotherapy for the primary prevention of atherosclerotic cardiovascular disease (ASCVD), specifically lipid management and aspirin, have long been based on absolute risk. However, lipid management in the current era remains challenging to both patients and clinicians in the set...
journal_title：Mayo Clinic proceedings
pub_type： 杂志文章
doi：10.1016/j.mayocp.2017.10.001
更新日期：2017-12-01 00:00:00
abstract：:The recent Mayo Clinic experience in the diagnosis and treatment of infectious diseases in Indochinese refugees is discussed. One hundred patients from whom stool and blood specimens were submitted for parasitic examination showed a high percentage of parasitic infection, often with multiple agents. An outline for the...
journal_title：Mayo Clinic proceedings
pub_type： 杂志文章
doi：
更新日期：1980-08-01 00:00:00
abstract：:Arterial calcification in the coronary arteries frequently indicates concomitant atherosclerotic plaque but can be present in the medial layers with no evidence of plaque. Calcification of the medial layer of arteries is seen most often in the peripheral arteries but also is widely recognized In the coronary arteries....
journal_title：Mayo Clinic proceedings
pub_type： 杂志文章
doi：10.1016/S0025-6196(11)61536-X
更新日期：2005-06-01 00:00:00
abstract：OBJECTIVE:To explore the current epidemiological profile of Marfan syndrome in a general population. PATIENTS AND METHODS:Patients who had received a diagnosis of Marfan syndrome were identified from the Taiwan National Health Insurance database records from January 1, 2000, through December 31, 2012 (average populati...
journal_title：Mayo Clinic proceedings
pub_type： 杂志文章
doi：10.1016/j.mayocp.2013.08.022
更新日期：2014-01-01 00:00:00
abstract：:Transesophageal echocardiography (TEE) is used frequently in patients with cerebrovascular ischemia. On TEE, a typical appearance of a cardiac fibroelastoma is that of a pedunculated, mobile mass attached to a leaflet of a valve. Surgical excision of the lesion may lead to resolution of the symptoms and prevent furthe...
journal_title：Mayo Clinic proceedings
pub_type： 杂志文章
doi：10.1016/S0025-6196(11)63944-X
更新日期：1995-09-01 00:00:00
abstract：:Management of a solitary liver mass necessitates reliable distinction between primary hepatocellular carcinoma and metastatic lesions. The histologic differentiation can be difficult even with special stains such as alpha-fetoprotein, cytokeratin, and carcinoembryonic antigen. Albumin is a specific product of hepatocy...
journal_title：Mayo Clinic proceedings
pub_type： 杂志文章,评审
doi：10.4065/73.6.533
更新日期：1998-06-01 00:00:00
abstract：:Considerable morbidity and mortality are associated with infections of vascular prosthetic grafts. Most vascular surgeons believe that once vascular prosthetic graft infections occur, any form of therapy short of removal of the prosthesis will fail. Although recent reports have noted the successful conservative treatm...
journal_title：Mayo Clinic proceedings
pub_type： 杂志文章
doi：
更新日期：1983-07-01 00:00:00
abstract：OBJECTIVE:To compare health care usage between suicide decedents and living controls in the year before suicide in a large representative US population. PATIENTS AND METHODS:Cases (n=1221) and controls (n=3663) belonged to an integrated health care system from January 1, 2009, through December 31, 2014. Cases and cont...
journal_title：Mayo Clinic proceedings
pub_type： 杂志文章
doi：10.1016/j.mayocp.2019.04.037
更新日期：2019-10-01 00:00:00
abstract：OBJECTIVE:To investigate a recent association between the use of the angiotensin receptor-blocker (ARB) olmesartan and a severe enteropathy resembling celiac disease. PATIENTS AND METHODS:We searched our endoscopy database for all outpatient esophagogastroduodenoscopy (EGD) or colonoscopy examinations in patients aged...
journal_title：Mayo Clinic proceedings
pub_type： 杂志文章
doi：10.1016/j.mayocp.2014.05.012
更新日期：2014-09-01 00:00:00
abstract：OBJECTIVE:To describe the survival of a large nonobstructive hypertrophic cardiomyopathy (NO-HCM) cohort and to identify risk factors for increased mortality in this population. PATIENTS AND METHODS:Patients were identified from the Mayo Clinic HCM database from January 1, 1975, through November 30, 2006, for this ret...
journal_title：Mayo Clinic proceedings
pub_type： 杂志文章
doi：10.1016/j.mayocp.2016.01.002
更新日期：2016-03-01 00:00:00
abstract：:In May 2004, representatives from local, state, and national public and private organizations met in Rochester, Minn, for the Action on Obesity Summit hosted by Mayo Clinic. The overall goal of this summit was to identify creative and effective strategies to Increase the US population's physical activity and improve n...
journal_title：Mayo Clinic proceedings
pub_type：
doi：10.4065/80.4.527
更新日期：2005-04-01 00:00:00
abstract：:Chest pain in a young person is often caused by chest wall tenderness, associated with mitral valve prolapse, or attributed to psychologic factors. Ischemic cardiac pain may be overlooked because of its rare occurrence in this age group. A 35-year-old woman complained of substernal chest pressure precipitated by exert...
journal_title：Mayo Clinic proceedings
pub_type： 杂志文章
doi：10.1016/s0025-6196(12)64859-9
更新日期：1988-04-01 00:00:00
abstract：OBJECTIVE:To study the direct physiological and emotional impact of an animal-assisted activity (AAA) session (a form of complementary and integrative medicine) in patients with fibromyalgia (FM). PATIENTS AND METHODS:The study population consisted of 221 participants with FM who were attending Mayo Clinic's Fibromyal...
journal_title：Mayo Clinic proceedings
pub_type： 杂志文章,随机对照试验
doi：10.1016/j.mayocp.2020.04.037
更新日期：2020-11-01 00:00:00
abstract：:Physical inactivity increases the risk of many chronic disorders. Numerous studies have convincingly demonstrated that undertaking and maintaining moderate levels of physical activity (eg, brisk walking 3 hours a week) greatly reduces the incidence of developing many chronic health conditions, most notably type 2 diab...
journal_title：Mayo Clinic proceedings
pub_type： 杂志文章,评审
doi：10.4065/77.2.165
更新日期：2002-02-01 00:00:00
abstract：:Wide-angle two-dimensional echocardiography was used to establish criteria for recognition of ventricular situs and ventricular morphology in 27 patients (ages 2 month to 58 years) with atrioventricular amd ventriculoarterial discordance (corrected transposition of the great arteries). The morphologic left ventricle w...
journal_title：Mayo Clinic proceedings
pub_type： 杂志文章
doi：
更新日期：1981-10-01 00:00:00
abstract：OBJECTIVE:To report a case of eosinophilic myocarditis with remarkable initial clinical manifestations and outcome. MATERIAL AND METHODS:A 67-year-old woman with hypertension and a history of asthma and drug hypersensitivity was referred to our institution with a diagnosis of acute myocardial infarction on the basis o...
journal_title：Mayo Clinic proceedings
pub_type： 杂志文章,评审
doi：
更新日期：1997-07-01 00:00:00
abstract：OBJECTIVE:To assess overall perioperative and anesthetic care-specific patient satisfaction. DESIGN:We mailed questionnaires postoperatively to three groups of surgical patients (those who underwent anesthesia without complications, those who experienced airway management difficulties, and those who had cardiovascular...
journal_title：Mayo Clinic proceedings
pub_type： 杂志文章
doi：10.4065/72.1.20
更新日期：1997-01-01 00:00:00
abstract：OBJECTIVE:To describe clinical, radiological, and histopathologic features of diffuse bronchiolar disease due to chronic occult aspiration. PATIENTS AND METHODS:We identified 4 patients encountered from July 2001 to January 2004 who had persistent respiratory symptoms and lung Infiltrates and who were eventually diagn...
journal_title：Mayo Clinic proceedings
pub_type： 杂志文章
doi：10.4065/81.2.172
更新日期：2006-02-01 00:00:00
abstract：:The detection of monoclonal light chains in the urine by the Bence Jones heat test is a useful adjuvant to the diagnosis of myeloma and other related diseases. The test is particularly helpful when no serum spike is noted. Overall, it is positive in approximately half of all patients with myeloma. In order to assess t...
journal_title：Mayo Clinic proceedings
pub_type： 杂志文章
doi：
更新日期：1975-05-01 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：OBJECTIVE:To describe the differences in clinical characteristics and outcome between adult- and childhood-onset biopsy-proven IgA vasculitis (IgAV) in North America. PATIENTS AND METHODS:Patients with IgAV diagnosed from January 1, 1997, through December 31, 2016, were retrospectively identified. Data were abstracted...
journal_title：Mayo Clinic proceedings
pub_type： 杂志文章
doi：10.1016/j.mayocp.2019.04.034
更新日期：2019-09-01 00:00:00
abstract：:There are a number of changes underway in modern clinical bacteriology laboratories. Panel-based molecular diagnostics are now available for numerous applications, including, but not limited to, detection of bacteria and select antibacterial resistance markers in positive blood culture bottles, detection of acute gast...
journal_title：Mayo Clinic proceedings
pub_type： 杂志文章,评审
doi：10.1016/j.mayocp.2016.06.020
更新日期：2016-10-01 00:00:00
