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排序方式: 共有2085条查询结果,搜索用时 218 毫秒
1.
Francisca Morgado Mariana Batista Ana Moreno Inês Coutinho 《Pediatric dermatology》2021,38(1):191-193
We present a 6‐year‐old girl with skin hyperpigmentation, leukoplakia, and onychodystrophy, the classic mucocutaneous triad usually associated with dyskeratosis congenita. The patient also had premature graying of the hair, bone marrow failure, hepatitis, exudative retinopathy, osteopenia with multiple long bone fractures, and intracranial calcifications and brain cysts. Coats plus syndrome is a rare disease with a clinical and genetic overlap with dyskeratosis congenita. This disease is reviewed, with a focus on the pathogenesis of the genetic anomalies and its background as a telomere biology disorder. 相似文献
2.
Enrique Cases Luis Seijo Carlos Disdier María José Lorenzo Rosa Cordovilla Francisca Sanchis Marimar Lacunza Gregoria Sevillano Fátima Benito-Sendín 《Archivos de bronconeumologia》2009,45(12):591-596
IntroductionTo analyse the effectiveness and safety of the indwelling pleural catheter in the management of recurrent malignant pleural effusion.Patients and methodsA prospective multicentre study was performed in 63 consecutive outpatients from four Spanish hospitals. A total of 43 men and 20 women were included, with a median age of 67 years. In seven of the cases treatment with pleurodesis had failed; in five other cases their lung was trapped; in another five cases after repeat therapeutic thoracocentesis, and the rest of them as a preference choice to pleurodesis. All patients had an indwelling pleural catheter inserted (PleurX®, Denver Biomedical).ResultsMost of patients (94.5%) reported an improvement in their respiratory symptoms (cough and dyspnoea) and their ability to function independently. Average length of the catheterisation was 45 days (6-222). Average amount of drained pleural effusion was 75 ml, with a frequency of drainage of between 3 and 4 times per week and once fortnightly. Spontaneous pleurodesis was achieved following 34.9% of procedures. No complications occurred during the insertion of the catheter. The post-catheterisation complications were empyema (3 cases), chest pain (2 cases), and tumour metastasis (3 cases).ConclusionsThe use of an indwelling pleural catheter is an effective palliative treatment in the outpatient management for patients suffering malignant pleural effusion. It is also a simple treatment that can be easily applied, does not require hospitalisation and can be easily managed by the patient at home, with a low rate of complications. 相似文献
3.
4.
Floriana S Luppino Edward Grooters Francisca T de Bru?ne Aeilko H Zwinderman Andel G L van der Mey 《Otology & neurotology》2006,27(7):962-968
OBJECTIVE: Conservative treatment in vestibular schwannomas is mainly dependent on optimal tumor size determination. The first objective of this study was to establish interobserver and intraobserver variability and the accuracy and reproducibility of three different measurement methods: one bidimensional and two volumetrical. The second objective was to evaluate the influence of the use of different magnetic resonance imaging (MRI) slice thickness and the influence of patient's repositioning on the measurements' outcome. STUDY DESIGN: Two consecutive studies have been prospectively performed, both mainly concerning volumetrical measurements. SETTING: Both studies were performed in a tertiary academic, multidisciplinary center. PATIENTS: In the first study, 19 patients were included between March 1996 and May 2002, with a total of 52 scans. The second study comprised 14 patients. All patients in the first study had at least two MRI examinations performed according to a standard protocol (T1-weighted gadolinium-enhanced, slice thickness of 3 mm, and interslice gap of 0.3 mm). The population in the second study underwent a conservative wait and scan (W&S) treatment. METHODS: Both studies are discussed separately. In the first study, all scans were measured by four investigators, two of whom performed the measurements twice using three different methods. The first method concerns a manually performed bidimensional surface measurement along the petrous pyramid. The second method concerns a semiautomatic volumetrical measurement on a computer, relying on contour detection, and the last method concerns a fully automatic volume reconstruction also performed on a computer using different gray shade scales.All 14 patients included in the second study underwent three magnetic examinations. Three different T1-weighted gadolinium-enhanced sequences were used: the first using a slice thickness of 1 mm, the second again with 1-mm slice thickness but after having repositioned the patient. In the third sequence, a slice thickness of 3 mm was used. All scans were measured by two investigators using the three different methods, as described previously. RESULTS: The manual surface method shows large intraobserver variability, and its reproducibility is significantly lower compared with volume measurements. Because of a relatively large systematic error in small tumors, sensitivity of growth detection is low. Both volumetrical methods are hardly interobserver- and intraobserver-dependent, and the gray shade method turned out to be the most accurate. Radiologic progression is only significant at a volume increase of at least 50%. The influence of patient repositioning is negligible, whereas the use of 1-mm slice thickness seems to be superior to a 3-mm slice thickness. CONCLUSION: The volumetrical gray shade method is the most accurate method to detect early tumor progression. As tumor increase of at least 50% is needed to be able to speak of statistically significant tumor growth, the absence of radiologic progression does not mean that there is no tumor growth. Repositioning of the patient has no influence on the measurements' outcome, whereas for optimal magnetic resonance imaging examinations, a 1-mm slice thickness protocol seems to be superior. 相似文献
5.
6.
Francisca M Vera Juan M Manzaneque Enrique F Maldonado Gabriel A Carranque Victor M Cubero Maria J Blanca Miguel Morell 《Medical science monitor》2007,13(12):CR560-CR566
BACKGROUND: The aim of the present study was to analyze the effects of a qigong training program on blood biochemical parameters. MATERIAL/METHODS: Twenty-nine healthy subjects participated in the study of whom 16 were randomly assigned to the experimental group and 13 to the control. The experimental subjects underwent daily qigong training for one month. Blood samples for the quantification of biochemical parameters (total cholesterol, HDL, LDL, triglycerides, phospholipids, GOT, GPT, GGT, urea, creatinine) were taken before and after the training program. As statistical analysis, ANCOVA was performed. RESULTS: Statistically significant differences were found showing that the experimental group had lower serum levels of GOT (glutamic-oxaloacetic transaminase), GPT (glutamic-pyruvic transaminase), and urea and that there was a trend towards significance in GGT (gamma-glutamyltransferase). CONCLUSIONS: This study demonstrates that after practicing qigong for the short period of one month, noteworthy changes in several blood biochemical parameters were induced. While it is tempting to speculate on the relevance and implications of these biochemical variations, further investigation is needed to elucidate the scope of these findings. 相似文献
7.
A. Morgado N. Raoux M. Smith J.-F. Allilaire D. Widlcher 《Acta psychiatrica Scandinavica》1989,80(6):541-547
Twenty-five depressed inpatients were asked to report their adjustment at work during the 4-month period preceding their hospitalization. Two separate reports were given: the first during the acute illness phase and the second one 10-28 days later, after symptomatic remission following standardized pharmacotherapy. Thirty-two percent more patient ratings showed absence of adjustment problems on the second report compared with the first. Significant differences between the 2 reports were found in 7 of the 9 items on the Structured and Scaled Interview to Assess Maladjustment, which is designed to assess specific aspects of maladjustment at work. The changes in the scores of maladjustment correlated with the changes in the scores of depressive symptoms, and 40% of the variation in maladjustment scores was accounted for by the pessimism item of the Montgomery-Asberg Depression Rating Scale. Much of the poor work adjustment reported by the acutely depressed patients thus seems to be caused by symptom-related subjective bias. 相似文献
8.
Josep Oriola Cristina Hernandez Rafael Simo Anna Barceló Roser Casamitjana Enric Vilardell & Francisca Rivera-Fillat 《Clinical endocrinology》1996,44(2):207-212
OBJECTIVE Genetic analysis is now essential for the accurate screening of families with multiple endocrine neoplasia type 2 (MEN2). We present the genetic analyses by both haplotype and direct RET proto-oncogene mutation analysis in seven Mediterranean MEN 2A families and have compared these results with biochemical screening tests and pathological examinations.
DESIGN Total DNA was extracted from leucocytes. Linkage analysis was performed using five RFLP systems from three loci that flank the MEN2A locus (FNRB, RBP3, D10S15). RET proto-oncogene analysis was carried out by automatic DNA sequencing and adequate digestion of PCR amplified products for exons 10 and 11. Screening for medullary thyroid carcinoma or C-cell hyperplasia was performed by the pentagastrin provocation test. Adrenal medullary function was assessed by measurements of 24-hour urinary excretion of catecholamines and their metabolites. Serum calcium and phosphate measurements were the initial screen for hyperparathyroidism. Serum PTH was determined only if hyperparathyroidism was suggested by the former determinations.
PATIENT Genetic study was performed in 59 individuals (39 at risk) from seven kindreds of Mediterranean origin with MEN 2A.
RESULTS Diagnosis by linkage analysis was not possible in 30% of individuals at risk, but RET proto-oncogene analysis identified all these individuals. Mutations of the RET proto-oncogene were detected in exon 10 (codon 618) in one MEN 2A kindred and in exon 11 (codon 634) in the others. The results of direct analysis were concordant with linkage studies in each case. Three individuals from different MEN 2A kindreds, who were subsequently shown not to be gene carriers, had false positive pentagastrin stimulation tests.
CONCLUSION Biochemical tests can be replaced by direct DNA mutation analysis as the first line screening test in order to identify gene carriers of MEN 2A. 相似文献
DESIGN Total DNA was extracted from leucocytes. Linkage analysis was performed using five RFLP systems from three loci that flank the MEN2A locus (FNRB, RBP3, D10S15). RET proto-oncogene analysis was carried out by automatic DNA sequencing and adequate digestion of PCR amplified products for exons 10 and 11. Screening for medullary thyroid carcinoma or C-cell hyperplasia was performed by the pentagastrin provocation test. Adrenal medullary function was assessed by measurements of 24-hour urinary excretion of catecholamines and their metabolites. Serum calcium and phosphate measurements were the initial screen for hyperparathyroidism. Serum PTH was determined only if hyperparathyroidism was suggested by the former determinations.
PATIENT Genetic study was performed in 59 individuals (39 at risk) from seven kindreds of Mediterranean origin with MEN 2A.
RESULTS Diagnosis by linkage analysis was not possible in 30% of individuals at risk, but RET proto-oncogene analysis identified all these individuals. Mutations of the RET proto-oncogene were detected in exon 10 (codon 618) in one MEN 2A kindred and in exon 11 (codon 634) in the others. The results of direct analysis were concordant with linkage studies in each case. Three individuals from different MEN 2A kindreds, who were subsequently shown not to be gene carriers, had false positive pentagastrin stimulation tests.
CONCLUSION Biochemical tests can be replaced by direct DNA mutation analysis as the first line screening test in order to identify gene carriers of MEN 2A. 相似文献
9.
Bongertz Costa Guimarães Grinsztejn The Hec/fiocruz Aids Clinical Research Group João Filho Galvão-Castro & Morgado 《Scandinavian journal of immunology》1998,47(6):603-608
Susceptibility to autologous and heterologous neutralization of primary human immunodeficiency virus (HIV)-1 isolates belonging to subtype B, to the B'-variant of subtype B or to subtype F from infected individuals residing in Rio de Janeiro was assayed. A lower infectivity of the B'- and F isolates when compared to the classical B-subtype HIV-1 isolates was observed. Comparisons of neutralization susceptibilities were carried out for 19 B-subtype, 11 B'-variant and two F-subtype HIV-1 isolates with plasma from autologous and heterologous samples. Frequency of autologous neutralization was slightly lower for B-subtype isolates in comparison to B'-variant isolates. Heterologous intra-subtype neutralization was significantly lower for B-subtype than for the B'-variant or the F-subtype isolates. While B-subtype isolates were neutralized by most anti-F-subtype plasma, F-subtype isolates, although most susceptible to F-subtype antibodies, were highly susceptible to neutralization by anti-B-subtype antibodies. Cross-neutralization for B'-variant and B-subtype isolates was not as extensive as observed for B- and F-subtype isolates. However, the results presented indicate a quite extensive cross-neutralization between Brazilian HIV-1 isolates. 相似文献
10.
Dr. Pedro J. Morgado M.D. José A. Suárez M.D. Luis G. Gómez M.D. Pedro J. Morgado Jr. M.D. 《Diseases of the colon and rectum》1988,31(6):474-480
The present classification of first, second, and third grade hemorrhoids only reflects variation in size of a normal human tissue and does not relate to "hemorrhoidal disease." Cross-sections and coronal sections of the anal canal in 32 fetuses, with ages ranging from 28 to 38 weeks of development, were studied and the following fundamental facts were found: in the lumen of the anal canals of fetuses, there are prominences of mucosa formed by conjunctive and muscular tissue, arterial and venous vessels and glands, arranged without following any particular pattern, which resemble similar formations found in the adult that protrude equally in the inside of the canal, known as hemorrhoids. The muscular tissue, smooth or striated, is grouped in bundles, and bunches of collagen fibers of homogeneous, nonfragmented, and regular aspect are found between them. Blood vessels have an ample lumen with a defined structure of collagen tissue as well as muscular tissue in its walls. Prominences of mucosa are connected to the remainder of the intestinal wall by defined conjunctive thick, nonfragmented fibers, that permit firm adherence. In healthy adults, the findings were similar but there was an evident degenerative process in the collagen fibers. In 100 surgical specimens of hemorrhoidectomies, the histologic investigation demonstrated a severe inflammatory reaction that especially affected the blood vessel wall and conjunctive tissue, which probably produced an ischemic lesion of the mucosa that could condition the onset of a vascular thrombosis, allowing displacement of the mucosa and its protrusion through the anus. The files of 815 patients suffering from hemorrhoidal disease were also studied. The main physical findings were bleeding, thrombosis of the internal hemorrhoidal plexus, prolapse of the anal cushions, or a combination of these. The authors propose to classify hemorrhoidal disease as bleeding, prolapsing, thrombotic, and mixed hemorrhoidal disease, aiming toward a rational treatment. 相似文献