Abstract：
BACKGROUND:The cytogenetic analysis of the fragile X affected shows a break point in the q27.3 region of chromosome X. However many carrier females and normal carrier males remain refractory to cytogenetic diagnosis. New DNA probes tightly linked to the fragile X point are now available allowing by the familiar RFLP analysis to detect the carrier members. METHODS:Fragile X syndrome affected families were studied cytogenetically and by the use of DNA probes flanking the fragile X region: 1A1, U6.2, VK21 in the distal region and RN1, 4D-8, cX55.7 in the proximal. RESULTS:The haplotypes from two X fragile syndrome affected families were obtained. These families were informatives for all the DNA probes used. The cytogenetic results obtained agree with the previously inheritance pattern reported. CONCLUSIONS:It is very important to detect the normal male carriers. The determination in one family of the origin of the fragile X mutation is possible by the use of DNA probes.
journal_name
Med Clin (Barc)journal_title
Medicina clinicaauthors
Giné R,Espinás ML,Antich J,Carballo Mkeywords:
subject
Has Abstractpub_date
1992-02-01 00:00:00pages
121-4issue
4eissn
0025-7753issn
1578-8989journal_volume
98pub_type
杂志文章相关文献
MEDICINA CLINICA文献大全abstract：BACKGROUND:It has been previously reported that an exaggerated response of blood pressure to mental stress tasks is associated to an increased cardiovascular risk. The objective of this cross-sectional study, with sequential inclusion of subjects who met the inclusion criteria, was to asses the relationships between th...
journal_title：Medicina clinica
pub_type： 杂志文章
doi：
更新日期：1999-10-09 00:00:00
abstract：OBJECTIVE:To describe the secular trend of cancer incidence in Catalonia and to compare it with that observed in European regions. MATERIAL AND METHOD:Using data from the Tarragona and Gerona cancer registries, the number of cases, adjusted rates, and the annual percentages of change in cancer incidence in Catalonia f...
journal_title：Medicina clinica
pub_type： 杂志文章
doi：10.1016/s0025-7753(08)76428-5
更新日期：2008-10-01 00:00:00
abstract：:Accumulation of pus in the perinephritic cavity often gives rise to doubtful clinical manifestations, which hinder and delay prompt diagnosis of this severe process. The clinical, biological, radiological and therapeutic characteristics of 50 cases are reviewed; all were confirmed by either surgery or necropsy. The mo...
journal_title：Medicina clinica
pub_type： 杂志文章
doi：
更新日期：1981-07-15 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 AND OBJECTIVE:Alcohol and drug dependent patients present a higher psychiatric comorbidity, which increases according to the number of drugs. Moreover, there are complications from the treatment and the prognosis is aggravated. We aimed to observe the differences regarding personality disorders (PD) and cogn...
journal_title：Medicina clinica
pub_type： 杂志文章
doi：10.1157/13120771
更新日期：2008-05-17 00:00:00
abstract：BACKGROUND AND OBJECTIVE:Burden of disease (DALYs) can help define health priorities. Our objective was to assess DALYs of those illnesses most important in Spanish children and teenagers. MATERIAL AND METHOD:We calculated DALYs components (YLL, YLD) by age groups and sex. Sources used were Spanish mortality data and ...
journal_title：Medicina clinica
pub_type： 杂志文章
doi：10.1016/s0025-7753(04)74245-1
更新日期：2004-03-20 00:00:00
abstract：BACKGROUND:Vertebral bone metastases represent the most frequently affected region within the skeleton. They are of important relevance because of the risk of medullar compression. The diagnosis of medullar canal invasion is of particular interest in order to prevent neurological dysfunction. A prospective study was ca...
journal_title：Medicina clinica
pub_type： 杂志文章
doi：
更新日期：1992-09-26 00:00:00
abstract：BACKGROUND:The identification of high risk groups for genital human papillomavirus (HPV) infection may contribute to cervical cancer prevention. The study was designed to estimate the prevalence of HPV infection and the related risk of cervical cancer among imprisoned women. PATIENTS AND METHODS:157 women were visited...
journal_title：Medicina clinica
pub_type： 杂志文章
doi：10.1016/s0025-7753(00)71472-2
更新日期：2000-06-17 00:00:00
abstract：BACKGROUND:Loss of heterozygosity (LOH) at 5q21, where the APC/MCC genes reside, is one of the genetic alterations that characterizes lung cancer. The aim of this study was to analyse LOH frequency on chromosome 5q21 in patients with non-small cell lung cancer and its relationship with TNM staging and histological subt...
journal_title：Medicina clinica
pub_type： 杂志文章
doi：
更新日期：1997-05-31 00:00:00
abstract：:Pharmacogenetics studies the relationship between genetic polymorphisms and individual responses to drugs. In recent years, there has been a great progress in our knowledge of the effects of drug-metabolizing enzymes and molecular target genetic polymorfisms on cancer chemotherapy. Pharmacogenetics focuses on the pred...
journal_title：Medicina clinica
pub_type： 杂志文章,评审
doi：10.1157/13124283
更新日期：2008-07-05 00:00:00
abstract：BACKGROUND AND OBJECTIVE:White coat effect (WCE) (i.e., the difference between office blood pressure [OBP] and awake ambulatory blood pressure monitoring [ABPM]) may be present in hypertensive individuals. The relationship between occurrence of WCE and target organ damage (TOD) has not yet been assessed in true resista...
journal_title：Medicina clinica
pub_type： 杂志文章
doi：10.1016/j.medcli.2012.04.031
更新日期：2013-01-05 00:00:00
abstract：BACKGROUND:Pleural mesothelioma is a tumor of low incidence whose relation with the exposure to asbestos has been widely demonstrated. This exposure is generally occupational, but may also be domestic and there is the possibility of environmental exposure. METHODS:By death certifications all the cases of death by pleu...
journal_title：Medicina clinica
pub_type： 杂志文章
doi：
更新日期：1993-11-06 00:00:00
abstract：:Usher syndrome includes hereditary pathologies characterized by bilateral sensorineural deafness and visual impairment due to retinitis pigmentosa. Clinically, there are three distinct subtypes referred to as USH1, USH2, and USH3. Each subtype is genetically heterogeneous. Eleven different genes are implicated in the ...
journal_title：Medicina clinica
pub_type： 杂志文章,评审
doi：10.1157/13079387
更新日期：2005-10-01 00:00:00
abstract：BACKGROUND AND OBJECTIVES:To validate four instruments to detect domestic violence in health-care settings against external criteria -Index of Spouse Abuse (ISA), Psychological Maltreatment of Women Inventory short form (PMWI-SF), Woman Abuse Screening Tool (WAST), Partner Violence Screen (PVS)- and to assess the conco...
journal_title：Medicina clinica
pub_type： 杂志文章
doi：10.1016/j.medcli.2010.11.038
更新日期：2011-10-08 00:00:00
abstract：:Renal complications in Waldenström's macroglobulinemia (WM) are infrequent and are characterized by the presence of PAS positive amorphous hyaline deposits in the capillary lumen, infiltrated with lymphoplasmatic cells with PAS positive inclusions in the interstices and intratubular hyaline cylinders. Membranous glome...
journal_title：Medicina clinica
pub_type： 杂志文章
doi：
更新日期：1991-10-26 00:00:00
abstract：:Bacillary angiomatosis (epithelioid) is a recently described clinicopathologic syndrome, principally associated to infection by the human immunodeficiency virus. The case of a patient who was seen for fever and the appearance of four painful, erythematous and indurated subcutaneous nodules on the anteroexternal face o...
journal_title：Medicina clinica
pub_type： 杂志文章,评审
doi：
更新日期：1993-06-12 00:00:00
abstract：BACKGROUND AND OBJECTIVE:Forced respiratory volume in first second spirometry is currently used to diagnose chronic obstructive pulmonary disease. However, this technique does not always provide a reliable short-term prognosis, especially in patients with associated morbidity. We propose that specific health-related qu...
journal_title：Medicina clinica
pub_type： 杂志文章
doi：10.1157/13058683
更新日期：2004-03-06 00:00:00
abstract：:Hepatocellular carcinoma (HCC) is the most common primary liver neoplasm and one of the most common causes of death in patients with cirrhosis of the liver. In parallel, with recognition of the clinical relevance of this cancer, major new developments have recently appeared in its diagnosis, prognostic assessment and ...
journal_title：Medicina clinica
pub_type： 实务指引
doi：10.1016/j.medcli.2020.09.022
更新日期：2021-01-15 00:00:00
abstract：:Heart failure is a complex syndrome that affects almost all organs and systems of the body. Signs and symptoms of organ dysfunction, in particular kidney dysfunction, may be accentuated or become evident for the first time during acute decompensation of heart failure. Cardiorenal syndrome has been defined as the simul...
journal_title：Medicina clinica
pub_type： 杂志文章,评审
doi：10.1016/S0025-7753(14)70079-X
更新日期：2014-03-01 00:00:00
abstract：BACKGROUND AND OBJECTIVE:To determine whether in the Mexican population the spouses of patients with type 2 diabetes mellitus (DM2) have an increased risk of any degree of glucose intolerance compared with spouses of subjects without diabetes. SUBJECTS AND METHOD:An analytical cross-sectional study was made in the Fam...
journal_title：Medicina clinica
pub_type： 杂志文章
doi：10.1157/13127917
更新日期：2008-11-08 00:00:00
abstract：BACKGROUND AND OBJECTIVE:We aimed to test a new telerehabilitation device for stress urinary incontinence (SUI) in order to make an initial assessment of its effectiveness. PATIENTS AND METHOD:Randomized, controlled pilot study. INTERVENTION:experimental group (10 patients): pelvic floor muscle training, device train...
journal_title：Medicina clinica
pub_type： 杂志文章,随机对照试验
doi：10.1016/j.medcli.2014.05.036
更新日期：2015-05-21 00:00:00
abstract：BACKGROUND AND OBJECTIVES:Pertussis remains an important cause of morbimortality despite current vaccination strategies. This study was designed to describe the results and characteristics of close contacts of pertussis cases diagnosed in children less than 16 years in a tertiary hospital in Barcelona. PATIENTS AND ME...
journal_title：Medicina clinica
pub_type： 杂志文章
doi：10.1016/j.medcli.2012.09.017
更新日期：2013-11-02 00:00:00
abstract：BACKGROUND:Lateral chest X-rays may be helpful in the early detection of osteoporotic patients. We studied the proportion of chest X-ray reports in which the radiologist highlighted the presence of vertebral osteoporotic signs, as well as the proportion of patients with such records who were further studied by their ph...
journal_title：Medicina clinica
pub_type： 杂志文章
doi：10.1016/s0025-7753(01)72241-5
更新日期：2001-12-08 00:00:00
abstract：BACKGROUND:The aim of the present study was to validate the SpaceLabs 90207 apparatus used in non-invasive outpatient monitoring of blood pressure. METHODS:The measurements of blood pressure (BP) and cardiac frequency (CF) obtained with the SpaceLabs monitor were compared with those obtained with a mercury sphygmomano...
journal_title：Medicina clinica
pub_type： 杂志文章
doi：
更新日期：1994-09-24 00:00:00
abstract：BACKGROUND:To study the evolution of the diet and the nutritional intake between 1983 and 1999, by age and sex. SUBJECTS AND METHODS:We performed a series of analysis of the food intake on a representative sample of the population of Reus (aged 10-69 years). Dietary intake was estimated using the 24-hours recall metho...
journal_title：Medicina clinica
pub_type： 杂志文章
doi：10.1016/s0025-7753(00)71448-5
更新日期：2000-06-03 00:00:00
abstract：:A 75 year-old male presented with hyperkalemia unexplained by a moderate renal insufficiency, low basal levels of aldosterone and renin with a subnormal response to walking and saline depletion, and normal glucocorticoid function. The hyperkalemia was corrected by fluorocortisone administration. The concept of hypoald...
journal_title：Medicina clinica
pub_type： 杂志文章
doi：
更新日期：1980-11-10 00:00:00
abstract：BACKGROUND AND OBJECTIVE:For the treatment of obesity, an adecuate control of associated cardiovascular risk factors (CRF) is fundamental. The objective of this study was to assess the relationship between body mass index (BMI) and CRF, and the effect of a weight loss program on overweight subjects. PATIENTS AND METHO...
journal_title：Medicina clinica
pub_type： 杂志文章
doi：10.1016/s0025-7753(03)73997-9
更新日期：2003-10-18 00:00:00
abstract：BACKGROUND AND OBJECTIVE:Though there is a general agreement on the need of influenza vaccination (IV), very different results have been published about the magnitude of its effect. We evaluated the effectiveness of IV in the reduction of mortality in individuals over 65 years of age. PATIENTS AND METHOD:Prospective c...
journal_title：Medicina clinica
pub_type： 杂志文章
doi：10.1016/s0025-7753(05)72156-4
更新日期：2005-11-19 00:00:00
abstract：:The aging of the population and changes in family and social structures have led to increasing care needs for elderly persons following an acute disease or accident, with consequent concerns regarding costs and sustainability within the public health system. The main objective of postacute care (PAC) is to restore the...
journal_title：Medicina clinica
pub_type： 杂志文章,评审
doi：10.1016/j.medcli.2013.05.032
更新日期：2014-07-07 00:00:00
abstract：:A group of 32 patients with disseminated breast cancer were submitted to polychemotherapy following Cooper's protocol. Vincristine, cyclophosphamide, 5-fluorouracil, and prednisone were administered. The fifth drug used by Cooper, methotrexate, was not included in the therapy program because of difficulties in obtaini...
journal_title：Medicina clinica
pub_type： 杂志文章
doi：
更新日期：1979-08-15 00:00:00
