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Biomedical subjects

J Ferrando

Publications and source records attributed to J Ferrando.

At least 37 records · Page 2Linked to original sources

Paraneoplastic pemphigus: a case of long-term survival associated with systemic lupus erythematosus and polymyositis.

A 35-year-old man presented with a generalized bullous eruption and oral ulceration. He had been diagnosed as having systemic lupus erythematosus and pelvic Castleman disease (hyaline-vascular type) in the past. Histologic, direct and indirect immunofluorescence and immunoprecipitation studies confirmed a diagnosis of paraneoplastic pemphigus (PNP). Initially several medical treatments were tried unsuccessfully. The pelvic tumor was surgically removed and the mucocutaneous lesions slowly regressed. Four years after presentation, he developed polymyositis which was completely controlled with short courses of corticosteroids. There was no evidence of relapse of PNP or lupus erythematosus at that time. At the 6-year follow-up he showed no clinical evidence of PNP, lupus erythematosus or polymyositis without requiring immunosuppressive therapy. This case emphasizes the fact that patients with benign-neoplasm-associated PNP may undergo complete remission of the autoimmune disease upon complete excision of the tumor. This case also stresses the possible association of PNP with other autoimmune diseases such as lupus erythematosus and polymyositis.

Adult↗

Social inequalities in perceived health and the use of health services in a southern European urban area.

People of lower social class have worse health and less access to health services and preventive care. This article describes social class inequalities in health status and use of services, both curative and preventive, in Barcelona, in a country with a national health service. The cross-sectional study uses information from the 1992 Barcelona Health Interview Survey. Social class was designated using an adaptation of the British Registrar General classification. The study variables measured health status, health services utilization, and preventive practices. Bivariate and multivariate analyses were used. Some 88 percent of men in social class I and 81 percent in class V had very good or good perceived health status. For women these figures were 85.2 and 57.6 percent, respectively. Chronic illness increased with lower social class. There were no social class differences in the frequency of physician visits during the two weeks prior to the interview among people with poor perceived health. Some 60.7 percent of women aged over 29 in social class I had periodic cervical smears, but only 32 percent of those in class V; the corresponding figures for mammography were 37.8 and 11.3 percent. The national health service has advantages in terms of access to health services, but more knowledge about the quality of these services is required. The study findings are sufficient to defend the undertaking of equitable health policies, especially in providing access to preventive care for the entire population.

Adolescent↗

[Atypical primary biliary cirrhosis or autoimmune cholangitis?].

The term autoimmune cholangitis is used for a disease with clinical and pathological features of primary biliary cirrhosis (PBC), lack of anti-mitochondrial antibodies (AMA), presence of anti-nuclear antibodies (ANA), and good response to immunosuppresive therapy. The current knowledge of this condition is limited and it is not established whether or not it is a different syndrome from the CBP. We report a 51-year-old woman with chronic cholestasis, histological features of PBC, negative AMA and positive peripheral fluorescent ANA pattern, without response to prednisone.

Antibodies, Antinuclear↗

[Achilles tendon size by high resolution sonography in healthy population. Relationship with lipid levels].

BACKGROUND: Sonography is a useful technique for the study of the Achilles tendon, and specially in the detection of tendon xantomas. Normal sonographic size is not well established, and is essential in the clinical diagnosis of monogenic familial hypercholesterolemia (FH). Possible relationship between Achilles tendon size and plasma lipid concentrations in normolipidemic population is not known. SUBJECTS AND METHODS: The antero-posterior Achilles tendon diameter (ATD) was measured with high resolution sonography in 100 healthy subjects, 50 males and 50 females, 20-70 years old, 10 subjects for each decade of age and sex. ATD was correlated with age, gender, body mass index, physical activity and lipid and apolipoprotein B plasma concentrations. RESULTS: The ATD was significantly higher in males than in females, 5.32 (standard desviation [SD] 0.48) mm versus 4.91 (SD 0.47) mm (p < 0.01). In the multivariate analysis, ATD of males was positively associated with total plasma cholesterol (TC) level (p < 0.01). The ATD in females was positively associated with weight (p < 0.01). CONCLUSIONS: Normal ATD has been defined. Its range is relatively narrow and different in both sexes. Similarities in the histology between vascular and tendinous intersticium probably explain the relationship found between Achilles tendon and TC. Achilles tendon size could be a simple marker of lipid deposition in tissues.

Achilles Tendon↗

Disabilities resulting from traffic injuries in Barcelona, Spain: 1-year incidence by age, gender and type of user.

The purpose of this study was to examine the 1-year incidence of disabilities resulting from traffic injuries among the population of Barcelona (Spain), as well as its distribution by age, gender and type of motor-vehicle user, taking into account different exposure criteria. This is a population-based cross-sectional study; subjects were all cases (n = 4080) having undergone a medical examination for a traffic injury having occurred in 1993 resulting in a disability among residents in the area of Barcelona. Subjects were considered to have suffered a disability as a result of an injury if they were prevented from carrying out their normal activities for a period of 2 days or more. In 1993, the cumulative incidence rate of disability was 237.9 cases per 100,000 inhabitants, higher for men (287.1) than for women (193.9). The 20-24 year age group showed the highest incidence of disability (607.5). The rate of incidence of disability was 95.5 per 100,000 inhabitants among occupants of two wheeled vehicles, 87.7 among car occupants and 39.9 in pedestrians. When length of exposure to traffic was taken into account, the incidence rate of disability for residents aged > 14 years was 1.09 per 100,000 hours per person per year, similar for both sexes. This study represents a first attempt to use population-based health data to evaluate the incidence of disabilities due to traffic injuries. The results allow the identification of the groups with the greatest risk and who contribute the most to disabilities resulting from injuries, especially young users of two-wheeled motor vehicles.

Accidents, Traffic↗

Systemic xanthohistiocytoma: a variant of xanthoma disseminatum?

We present a 66-year-old man who had maculopapular pigmented lesions on the skin of the head, neck and trunk suggesting generalized eruptive histiocytoma (GEH). These lesions had a yellowish centre in a target-like pattern that has not been previously described. The patient suffered from diplopia and had a severe sensorimotor polyneuropathy causing progressive paresis of the limbs. The explorations performed disclosed the presence of specific xanthomatous infiltrates in the skin, lungs, respiratory tract, peripheral nerves and meninges, suggesting xanthoma disseminatum (XD) or juvenile xanthogranuloma. Multiple osteolytic lesions of large bones were also found. The infiltrate was CD68, MAC 387 and factor XIIIa positive and S-100 and CD1 negative. Some cells contained worm-like bodies visible by electron microscopy. Our patient presented clinical and immunohistochemical findings suggestive of GEH, juvenile xanthogranuloma or XD, supporting the idea of a wide spectrum of non-Langerhans cell histiocytosis. These specific target-like xanthomatous lesions seem to be unique for this new variant of XD.

Aged↗

Effective dose to the patient undergoing superior vena cava stent.

Metallic stents have been recently introduced for treating superior vena cava (SVC) obstruction. Dose data, in terms of dose-area product (DAP), from 44 patients referred for SVC stent placement on a digital unit have been retrospectively analysed in terms of their fluoroscopic and radiographic components. The mean DAP for the 44 examinations was 42 Gy cm2 and the effective dose was estimated to be 5.8 mSv. The fluoroscopic component was approximately 80%, with a mean screening time for these examinations of 17 min. The mean number of digital exposures was 86.

Aged↗

Trichodynia.

Explore the source record for details and available documents.

Adult↗

Barrett's esophagus, markers to distinguish risk groups.

BACKGROUND: As compared to the general population, patients with Barrett's esophagus (BE) present a 30 to 40 times higher risk of developing cancer. Their prognosis is poor and it will only be changed trying to recognize and detect preneoplastic changes early in order to provide these patients with an effective surgical therapy. Although epithelial dysplasia is still the "gold standard" as a marker of increased risk for malignancy, in view of the inter and intraobserver differences for interpreting it, both as regards its existence and grade, we have investigated other markers which can show this increased cancer risk. OBJECTIVE: Our aim has been to analyze which parameters, in addition to dysplasia, can distinguish groups with a higher or lower risk of progression to malignancy for a differentiated follow-up, so that the cost-benefit ratio is adequate and a sufficiently early diagnosis can be achieved which allows for a healing surgical therapy in most patients. PATIENTS AND METHODS: Twenty-seven patients have been studied, 9 with BE without dysplasia (control group), 9 with Barrett's esophagus with dysplasia, and 9 adenocarcinomas over BE, in all of which the presence of p53, c-erb-2, PCNA and CEA was established by histochemistry and the existence of aneuploidy by static cytometry. RESULTS: PCNA was positive in the three groups, though it was not at the surface epithelium in 55.5% of the control cases. C-erb-2 was negative in all control cases and positive in 5 cases with dysplasia, and 2 with adenocarcinoma. Protein p53 was positive in one control case, in 2 with dysplasia, and 4 with adenocarcinoma. CEA was positive in 7 control cases and in all cases with dysplasia and adenocarcinoma. Finally, aneuploidy was found by static cytometry in 5 of 9 control cases, in 4 of 9 with dysplasia, and in all adenocarcinomas. From the analysis of the results obtained, it can be concluded that a positive marker, even in the absence of dysplasia, suggests the presence of a "genomic instability" which may lead to progression to malignancy. CONCLUSIONS: This study allows us to establish three risk groups (high, low and intermediate) for a differentiated follow-up which allows an early diagnosis, with an adequate cost-benefit ratio.

Barrett Esophagus↗

[The underreporting of perinatal mortality: 10 years' experience of active surveillance in Barcelona].

BACKGROUND: Perinatal mortality is considered a good effectiveness health care indicator during pregnancy, deliver and early perinatal period. The aims of this investigation were to describe the magnitude and tendency of underreporting perinatal mortality in Barcelona, Spain from 1985 to 1994 and to determine underreporting predictive variables. SUBJECTS AND METHODS: Perinatal deaths between 1985 and 1994 were studied according to WHO international statistics criteria and deaths from 1988 to 1994 were also studied according to the WHO national statistics criteria. Sources of information were: Statistical Deaths Certificates and the Active Surveillance Registry that collect information about perinatal deaths directly from hospitals. A perinatal death was considered underreported if it was registered in the Active Surveillance Register but not in the Statistical Death Certificate. RESULTS: 24.5% perinatal deaths were underreported from 1985 to 1995 (according to international statistics criteria) and 24.9% from 1988 to 1994 (according national statistics criteria). In both periods underreporting decreased. Deaths in the first 24 hours of live (OR = 1.8; CI 95% = 1-3), newborns weight between 1,000 and 1,499 g (OR = 1.5; CI 95% = 0.6-3.8), hospitals with mortality registry (OR = 4; CI 95% = 2.2-7.1) and the first years of the study (OR = 0.7; CI 95% = 0.7-0.8) were predictive of underreporting. CONCLUSIONS: Underreporting perinatal deaths decreased during the study period. Deaths of newborns with low birth weight and who lived less than 24 hours were more underreported. The work developed by Active Surveillance Registry contributed to the decense of underreporting perinatal deaths.

Birth Weight↗

[Prevalence of cholelithiasis in El Real-Gandia].

The aim of this study was to know the prevalence of cholelithiasis (C) in the El Real-Gandia (Spain) as well as the degree of the response of the population. Health examinations were performed in 1,803 adults from El Real (2,000 inhabitants) and Gandia (54,000 inhabitants) using abdominal echography as the screening technique. Cholelithiasis was defined as the presence of biliary lithiasis (BL) or previous cholecystectomy (PC). Of 1,268 (70.3%) participants in the study, C was found in 126 cases (BL in 102 and P in 24) representing a standardized prevalence of around 15% in women and 5% in men. Cholelithiasis was more frequent in females (13.8%) than in males (5.7%) (p < 0.001) increasing linearly with age (p < 0.005). The proportion of PC was significantly higher in women (23.9%) than in men (5.9%) (p < 0.05) and in Gandia (34.4%) than in El Real (13.8%) (p < 0.02). The prevalence of biliary mud and polyps was of 0.3% and 1.1%, respectively. Working obligations (35.4%) and fear of hospitals (22.4%) were the most frequent causes for no response (NR). Males with more than primary a school education originating from outside the Valencian community (VC) were significantly associated with NR in multivariant analysis.

Abdomen↗

Two novel mutations in the LDL receptor gene: common causes of familial hypercholesterolemia in a Spanish population.

In our investigation of the LDL receptor gene in 30 Spanish patients, who were clinically diagnosed as heterozygous FH and were unrelated, we have applied single strand conformation polymorphism (SSCP) analysis and solid-phase sequencing. We identified two novel pathogenic mutations accounting for one third of the FH in this patient sample. Six patients were found to have a G to T substitution at nucleotide position 91 in exon 2 that results in a stop codon, E10X. Four patients were found to have a G deletion at nucleotide 518 in exon 4, causing a translational frameshift and a stop codon, 518delG. We have developed two polymerase chain reaction (PCR) based assays to detect easily these two mutations in all the available family members. We found fourteen E10X mutation carriers and eighteen 518delG mutation carriers. There was no statistically significant difference in mean lipid levels between carriers of these two mutations. Furthermore, haplotype analysis revealed that all E10X mutation carriers had the allele determined by TaqI-, StuI+, AvaII+, NcoI- and all 518delG mutation carriers had the haplotype TaqI-, StuI+, AvaII-, NcoI+. This indicates that both mutations may have been inherited from common ancestors, respectively.

Adolescent↗

Papuloerythroderma of Ofuji: a report of 2 cases including the first European case associated with visceral carcinoma.

Papuloerythroderma (PE) is a rare type of erythroderma of the elderly which results from the coalescence of sheets of papules that spare skin folds, with peripheral eosinophilia in most cases. Skin biopsy shows a nonspecific eczematous pattern with a mature T cell lymphocytic and eosinophilic infiltrate with Langerhans cells in the dermis. We report 2 cases of PE. The 1st case, in which no underlying malignancy could be found, responded partially to oral etretinate, topical steroid creams and tar derivates. The 2nd case did not respond to high-dose oral steroids and was associated with adenocarcinoma of the colon, with a fatal outcome. PE has been associated with lymphoma and carcinoma. We report the first European case of PE associated with visceral carcinoma and review the cases reported in the western literature.

Adenocarcinoma↗