Abstract：
BACKGROUND:Myotonic dystrophy (DM) is an inherited autosomal dominant disorder. The molecular defect responsible for the disease is the expansion of a CTG triplet at the 3' end of the DM gene. We report the analysis of the gene expansion, its correlation with the clinical severity and with the phenomenon of anticipation. METHODS:Using the cDNA25 probe, we have analyzed 140 affected DM patients from a total of 42 families comprising 303 individuals. According to the clinical status, the affected DM patients were classified as follows: group I, congenital form; group II, classical form, and group III, mild form. RESULTS:A larger than normal fragment was detected in all the DM patients but in none of the controls. The expansion size is 2.5-6 kb in group I, 0.3-5 kb in group II and 0.2-1.5 kb in group III. In 49 parent-child couples which show clinical anticipation, 47 have an increase in size of the fragment from one generation to the next. CONCLUSIONS:Our results show a clear correlation between the severity of the disease and the expansion size. We confirm at the molecular level the phenomenon of anticipation. The direct gene analysis of the DM families allows the diagnosis of all the at-risk individuals and facilitates the genetic counselling of these families.
journal_name
Med Clin (Barc)journal_title
Medicina clinicaauthors
Cobo AM,Martorell L,López de Munain A,Basauri B,Martínez JM,Johnson K,Baiget Msubject
Has Abstractpub_date
1993-03-13 00:00:00pages
361-4issue
10eissn
0025-7753issn
1578-8989journal_volume
100pub_type
杂志文章相关文献
MEDICINA CLINICA文献大全abstract：BACKGROUND AND OBJECTIVE:Several models for the prediction of liver fibrosis have been developed which consist of the measurement of routine laboratory data: a) a model combining platelets, gamma-glutamil-transpeptidase, cholesterol and age (Forns model), and b) a model using an aspartate-aminotransferase to platelet r...
journal_title：Medicina clinica
pub_type： 杂志文章
doi：10.1157/13075845
更新日期：2005-05-28 00:00:00
abstract：BACKGROUND AND OBJECTIVE:There is a bidirectional association between neoplasia and venous thromboembolism (VTE). However, whether this association has an impact in tumor recurrence is unknown. The aim of the study is to assess the incidence of cancer recurrence after diagnosis of VTE and determine if VTE could be a ma...
journal_title：Medicina clinica
pub_type： 杂志文章
doi：10.1016/j.medcli.2009.04.054
更新日期：2009-10-17 00:00:00
abstract：BACKGROUND AND OBJECTIVES:To evaluate the association between high levels of glycemia and low serum uric acid levels in two independent population-based samples. PATIENTS AND METHODS:The first sample was taken from the Pizarra Study, a population-based prospective study of 1.226 persons classified according to their g...
journal_title：Medicina clinica
pub_type： 杂志文章
doi：10.1016/j.medcli.2010.09.044
更新日期：2011-04-23 00:00:00
abstract：BACKGROUND:The generation of the use of informed consent forms makes necessary to grant their legibility for patients. Up to now, we didn't have in Spain a suitable yardstick for evaluating the reading levels. METHODS:A sample of 10 texts of diverse procedence, 8 journals and 16 informed consent forms were collected. ...
journal_title：Medicina clinica
pub_type： 杂志文章
doi：
更新日期：1996-10-26 00:00:00
abstract：BACKGROUND AND OBJECTIVE:Multiple chemical sensitivity (MCS) is characterized by a loss of tolerance to various environmental chemicals. The objective of this study was to describe patients with MCS seen in our hospital. PATIENTS AND METHOD:Patients consecutively seen by the Toxicology and Chronic Fatigue Units who pr...
journal_title：Medicina clinica
pub_type： 杂志文章
doi：10.1157/13107370
更新日期：2007-06-16 00:00:00
abstract：BACKGROUND AND OBJECTIVE:Rounded atelectasis (RA) is an unusual form of pulmonary lesion often confounded with pulmonary neoplasia. We studied the main diagnostic and evolutive characteristics of a series of patients diagnosed with RA. PATIENTS AND METHOD:Twenty patients diagnosed of RA in a tertiary hospital in Catal...
journal_title：Medicina clinica
pub_type： 杂志文章
doi：10.1157/13072036
更新日期：2005-02-26 00:00:00
abstract：BACKGROUND AND OBJECTIVE:In the last years, a study is being conducted about exposure to asbestos among shipyards workers in order to know the diagnosis of the diseases associated with the exposure. Our goal was to know the asbestos pulmonary contents in this population. MATERIAL AND METHODS:We obtained autopsy pulmon...
journal_title：Medicina clinica
pub_type： 杂志文章
doi：10.1016/j.medcli.2012.01.023
更新日期：2013-02-16 00:00:00
abstract：BACKGROUND:The incidence of typhoid fever in Spain from January 1982 to December 1993 was studied with the aim of analyzing how the disease has evolved over these years and predict its future behavior in order to facilitate prevention by the public health care organizations and centers. MATERIAL AND METHODS:The Box-Je...
journal_title：Medicina clinica
pub_type： 杂志文章
doi：
更新日期：1996-05-11 00:00:00
abstract：:Glucagon-like peptide 1 (GLP-1) is secreted from enteroendocrine L-cells in response to oral nutrient intake and elicits glucose-stimulated insulin secretion while suppressing glucagon secretion. Moreover slows gastric emptying -reducing postprandial glycemic excursions-, reduces body weight, systolic blood pressure a...
journal_title：Medicina clinica
pub_type： 杂志文章,评审
doi：10.1016/S0025-7753(14)70103-4
更新日期：2014-09-01 00:00:00
abstract：BACKGROUND AND OBJECTIVE:More information is needed on hypertension control in clinical practice, which includes taking at least two blood pressure (BP) readings and taking into account surgery times and previous antihypertensive drug intake. Our study aimed to assess the optimum degree of BP control in a broad sample ...
journal_title：Medicina clinica
pub_type： 杂志文章,多中心研究
doi：10.1016/s0025-7753(04)74183-4
更新日期：2004-02-14 00:00:00
abstract：INTRODUCTION:Recently diagnosis of latent tuberculosis infection (LTBI) can be made using the tuberculin skin test (TST) or by techniques known as interferon-γ release assays (IGRAS), being QuantiFERON(®)-TB Gold In-Tube (QF-G-IT) the most used. The IGRAS avoid some drawbacks of the TST, especially cross-reaction with ...
journal_title：Medicina clinica
pub_type： 杂志文章
doi：10.1016/j.medcli.2014.11.027
更新日期：2015-11-20 00:00:00
abstract：:Urinary tract infections are highly prevalent among women and when they are recurrent they can lead to patient discomfort and high healthcare costs, and they represent one of the most frequent causes of antibiotic consumption. There are several options to prevent RUTI which include both antibiotic treatment (continuou...
journal_title：Medicina clinica
pub_type： 杂志文章,评审
doi：10.1016/j.medcli.2020.04.026
更新日期：2020-08-28 00:00:00
abstract：BACKGROUND:The most appropriate methods for surveillance of nosocomial infection (NI) in hospitals with less than 250 beds remain to be elucidated. The aims of this study were to investigate the differences between the results found in a study in incidence (IS) and in another concerning prevalence (PS) carried out in a...
journal_title：Medicina clinica
pub_type： 杂志文章
doi：
更新日期：1993-01-16 00:00:00
abstract：:The usefulness of two alpha-2 adrenergic agonists (clonidine and guanfacine) and their comparative effectiveness were evaluated regarding the control of the opiates abstinence syndrome and the secondary effects, including development of cardiovascular abnormalities, in 88 parenteral heroin abusers admitted to two hosp...
journal_title：Medicina clinica
pub_type： 临床试验,杂志文章,随机对照试验
doi：
更新日期：1990-02-10 00:00:00
abstract：BACKGROUND:Diabetes mellitus is an important cause of mortality and morbidity in western nations with high costs for both patients and health care systems. MATERIAL AND METHODS:Based on the latest epidemiological studies and in combination with Spanish demographic data the direct health care costs of known diabetes me...
journal_title：Medicina clinica
pub_type： 杂志文章
doi：
更新日期：1997-09-13 00:00:00
abstract：:Highly malignant non-Hodgkin lymphomas (HM-NHL) may sometimes develop clinical features simulating an epithelial carcinoma with metastatic dissemination. Conventional histopathological study may be insufficient to differentiate between both conditions. Two patients with HM-NHL are reported with a rapid general deterio...
journal_title：Medicina clinica
pub_type： 杂志文章
doi：
更新日期：1989-03-11 00:00:00
abstract：BACKGROUND:In 1993 a first study on the scientific production of Spain in 1986-1989 on Biomedicine and Health Sciences, through the Science Citation Index (SCI) was published. The analysis attained the level of centres, with special emphasis in those related to the Health Care System. This paper analyses the period 199...
journal_title：Medicina clinica
pub_type： 杂志文章
doi：
更新日期：1997-10-18 00:00:00
abstract：BACKGROUND:Advanced atrioventricular block (AB) during acute myocardial infarction (AMI), characterizes a high-risk subgroup of patients. Our aim was to determine the prognostic significance of AB and its possible peculiarities in relation to infarction localization and/or the thrombolytic therapy. PATIENTS AND METHOD...
journal_title：Medicina clinica
pub_type： 杂志文章
doi：10.1016/s0025-7753(00)71282-6
更新日期：2000-03-11 00:00:00
abstract：BACKGROUND:Our goal was to analyze the relationship of lipids and lipoproteins, APOE genotype and mutations of the LDL receptor gene with the prevalence of myocardial infarction (MI) in patients with familial hypercholesterolemia (FH) from a Southern European FH population. PATIENTS AND METHOD:We studied 108 heterozyg...
journal_title：Medicina clinica
pub_type： 杂志文章
doi：10.1016/s0025-7753(02)72496-2
更新日期：2002-05-18 00:00:00
abstract：OBJECTIVES:To assess the immunological and virological markers as potential predictors of progression to death in HIV-1 infected < 12 months of age. PATIENTS AND METHODS:Forty-three HIV-1 infants < 12 months of age were evaluated. None of the children received antiviral treatment, neither their mothers during pregnanc...
journal_title：Medicina clinica
pub_type： 杂志文章
doi：
更新日期：1999-11-06 00:00:00
abstract：BACKGROUND:Data on drug consumption obtained from emergency room clinical records have been used for various epidemiological purposes. However the validity and reliability of these data remain unknown. This paper assesses the reliability and validity of an Emergency Room Toxicological Register (HMR) which has collected...
journal_title：Medicina clinica
pub_type： 杂志文章
doi：
更新日期：1996-11-23 00:00:00
abstract：BACKGROUND:The aim of this study was to assess the familial aggregation of lipid levels in schoolchildren of Cuenca city, Spain. SUBJECTS AND METHODS:A cross sectional study was made including 307 both sexes schoolchildren 9-12 years old recruited in three schools of Cuenca city, and 346 of their parents. Sociodemogra...
journal_title：Medicina clinica
pub_type： 杂志文章
doi：
更新日期：1997-10-04 00:00:00
abstract：BACKGROUND:Outbreaks of nosocomial infection by methicillin resistent Staphylococcus aureus (MRSA) are a problem in many hospitals with the control measures to be adopted being controversial. An outbreak of MRSA in a 550-bed university hospital is herein described and the impact of the adopted control measures on the e...
journal_title：Medicina clinica
pub_type： 杂志文章
doi：
更新日期：1997-03-22 00:00:00
abstract：BACKGROUND:Using the data available from the Cancer Registry of Zaragoza, the incidence of breast cancer in women from 1961 to 1985 was analyzed with future evolution being predicted up to the year 2000. METHODS:The age, period and birth cohort effects, in addition to the place of residence (capital/rest of province) ...
journal_title：Medicina clinica
pub_type： 杂志文章
doi：
更新日期：1993-05-29 00:00:00
abstract：:We report the case of a female aged 67 years suffering a Waldenström's macroglobulinemia which began with arthritis at the knee and pleural effusion. In both locations the anatomopathological examination showed infiltration by typical lympho-plasmatic cells. Other possible etiologies such as amyloid, infection or arth...
journal_title：Medicina clinica
pub_type： 杂志文章,评审
doi：
更新日期：1990-10-27 00:00:00
abstract：BACKGROUND AND OBJECTIVE:Parkinsonism is a group of neurological disorders characterized by extrapiramidal signs. Often, the differential diagnosis between parkinsonism, essential tremor and drug-induced parkinsonism is difficult. The aim of the study was to evaluate the utility of (123I)-FP-CIT SPECT in patients with ...
journal_title：Medicina clinica
pub_type： 杂志文章
doi：10.1016/s0025-7753(04)74224-4
更新日期：2004-03-13 00:00:00
abstract：BACKGROUND:In the context of the COVID-19 pandemic the risk of misdiagnosis of other causes of respiratory infection is likely. In this work we aim to describe the clinical characteristics, treatment and outcome of pneumococcal infection in COVID-19 patients. PATIENTS AND METHODS:Every COVID-19 patient presenting with...
journal_title：Medicina clinica
pub_type： 杂志文章
doi：10.1016/j.medcli.2020.05.022
更新日期：2020-12-11 00:00:00
abstract：:Systemic autoinflammatory diseases are an heterogeneous group of systemic disorders clinically characterized by recurrent or persistent inflammatory episodes, which occur in the absence of infectious, neoplastic or autoimmune etiology. During the past years, genetic defects affecting different proteins involved in the...
journal_title：Medicina clinica
pub_type： 杂志文章,评审
doi：10.1157/13108350
更新日期：2007-07-14 00:00:00
abstract：BACKGROUND AND OBJECTIVE:The B-type natriuretic peptide (BNP) has recently emerged as a prognostic marker in acute coronary syndromes (ACS). This role is based on results from randomized trials and other high selected population studies. The aim of this study was to determine the prognostic value of BNP in unselected p...
journal_title：Medicina clinica
pub_type： 杂志文章
doi：10.1016/j.medcli.2009.04.057
更新日期：2009-10-24 00:00:00
abstract：BACKGROUND AND OBJECTIVE:The treatment of biliary tract infections requires antibiotics and an appropriate surgical procedure. The aim of this study was to evaluate the efficacy and safety of piperacillin/tazobactam versus ceftriaxone plus ornidazole in the treatment of biliary tract infections. PATIENTS AND METHOD:Th...
journal_title：Medicina clinica
pub_type： 临床试验,杂志文章,随机对照试验
doi：
更新日期：2003-12-06 00:00:00
