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Biomedical subjects

J Ferrando

Publications and source records attributed to J Ferrando.

At least 55 records · Page 3Linked to original sources
PubMed1997

[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↗
PubMed1997

[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↗
PubMed1996

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↗
PubMed1996

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↗
PubMed1996

[Langerhans cell histiocytosis of lymph node].

Langerhans cell Histiocytosis or Histiocytosis X encompasses the syndromes of Letterer-Siwe disease, Hand-Schuller-Christian disease and eosinophilic granuloma. The localized disease usually consisted of isolated bone involvement as osteolytic areas. The isolated lymph node disease is uncommon. A case study of eosinophilic granuloma of lymph node in a 27 years-old woman who underwent several recurrences as lymphadenitis is presented. This case is presented in light of the cytologic, histologic and immunohistochemical findings of node-based eosinophilic granuloma and the favorable prognosis of this localized form treated with steroids.

Adult↗
PubMed1995

Congenital generalized follicular hamartoma associated with alopecia and cystic fibrosis in three siblings.

BACKGROUND: Generalized follicular hamartoma is a rare condition that has been described in association with alopecia, myasthenia gravis, and circulating autoantibodies. To date, all reported cases have appeared in female individuals. We report a kindred in which three siblings were affected by this condition in association with alopecia and cystic fibrosis. OBSERVATIONS: Three children of two consanguineous patients were affected by cystic fibrosis. They also had the same phenotype characterized by senilized facies, partial alopecia, and hypohidrosis, severe retardation of physical growth, and hyperelasticity of the skin. In all three children, skin biopsy specimens revealed the presence of basaloid proliferations at the level of the hair follicles that could not be demonstrated in their healthy parents. Myasthenia gravis did not appear during the clinical course of our patients, and circulating autoantibodies were not detected. All three patients died during childhood due to complications of cystic fibrosis. CONCLUSIONS: Generalized follicular hamartoma is a rare condition previously reported in association with alopecia, myasthenia gravis, and/or circulating autoantibodies (antinuclear and antiacetylcholine receptor antibodies). These are the first congenital cases of generalized follicular hamartoma described, and it is also the first time that an association with cystic fibrosis is reported. The striking association of generalized follicular hamartoma with cystic fibrosis in these three siblings suggests that there may be a genetic linkage between the two conditions.

Alopecia↗
PubMed1995

Green hair.

Green hair is an unusual dermatologic condition usually due to the deposition of copper from exogenous sources. We report the cases of two patients who presented to our clinic with green discoloration of their hair. This pigmentation of hair has generally been reported in patients with blond hair as a consequence of increased concentrations of copper in domestic or swimming pool water. Although an increased copper content of the affected hair seems to be a prerequisite, other predisposing factors have to be present for this situation to occur. These include previous hair damage (mechanical, sun exposure, bleaching, dyeing, waving), frequent contact with chlorinated water, or use of alkaline shampoos. Several options for treatment have been described for this problem, including application of hot vegetable oil, hydrogen peroxide, edetic acid- or D-penicillamine-containing shampoos, or hydroxyethyl diphosphonic acid.

Adult↗
PubMed1994

[Sarcoidosis of the paranasal sinuses].

Nasosinusal Sarcoidosis is an uncommon entity setting forth diagnostical and therapeutical questions to be answered. The AA. report a case of the sort with simultaneous pathological involvement of the skin, without systemic manifestations. The disease showed as a mucopurulent scaly rhinitis. The maxillary sinus was stuffed with sarcoid tissue. Both topical and systemic treatment with corticoid drugs failed to bring nasal and sinusal lesions to lessening. The skin changes unfolded favourably.

Beclomethasone↗
PubMed1993

Rapp-Hodgkin syndrome with pili canaliculi.

A 20-year-old woman and her 12-year-old brother had hypohidrotic ectodermal dysplasia, cleft lip and palate, midfacial hypoplasia with narrow nose from the nasal bridge to the tip, narrow dysplastic nails, and conical teeth and hypodontia, and hypospadias and hypoplastic uvula in the boy. The woman had major underdevelopment of intellectual capacity. The most important hair anomalies in both siblings were sparse eyebrows, pili torti, and pili canaliculi. Some of the pili canaliculi had two canals (pili bicanaliculi), and the cross section for scanning electron microscopy had a quadrangular aspect. This is the seventh family reported with Rapp-Hodgkin ectodermal dysplasia.

Adult↗
PubMed1993

Laryngeal carcinoma: sclerotic appearance of the cricoid and arytenoid cartilage--CT-pathologic correlation.

PURPOSE: To assess the significance of sclerotic-appearing cricoid and arytenoid cartilage with computed tomography (CT) in patients with laryngeal carcinoma. MATERIALS AND METHODS: CT scans obtained in 75 patients with laryngeal carcinoma were prospectively studied; laryngeal CT studies obtained in 50 patients without laryngeal carcinoma were retrospectively reviewed. RESULTS: Twenty-four of the 75 patients (32%) with laryngeal carcinoma had sclerotic cartilage. Evaluation of pathologic specimens obtained in 12 of these 24 patients showed 11 cases of sclerotic arytenoid cartilage and two cases of sclerotic cricoid cartilage. Tumor infiltration was demonstrated in six of these cases but not in the seven others. In 11 of the 12 cases with pathologic proof, however, tumor was adjacent to the perichondrium. In the 12 cases without pathologic proof, the proportion was similar. The positive predictive value of this sign for cartilaginous invasion was 46%. CONCLUSION: Although it is not a reliable sign of cartilaginous invasion, sclerotic-appearing cricoid and arytenoid cartilage in patients with laryngeal carcinoma is predictive of the tumor to this cartilage.

Adult↗
PubMed1993

Bronchiolitis obliterans organizing pneumonia. An unusual cause of solitary pulmonary nodule.

Bronchiolitis obliterans organizing pneumonia (BOOP) is a pulmonary disorder with a wide spectrum of radiologic features. Usually, these are bilateral, patchy, alveolar, or ground-glass infiltrates, but other presentations have also been described. We present a case in which the radiologic appearance was a cavitated pulmonary solitary nodule. We think that this finding may justify the inclusion of BOOP in the differential diagnosis of the pulmonary solitary nodule.

Bronchi↗
PubMed1993

[Hepatitis B markers at 3 open centers for mentally retarded].

With the aim of investigating the prevalence of hepatitis B virus infection, we studied 161 mentally retarded patients with an age range of 1 to 56, in three open institutions from the Safor Area (Valencia). Some positive serum markers of HBV infection were found in 15 patients (9.3%). The mentally retarded older than 17, presented a prevalence of HBV markers (20.6%), in contrast to those under this age (1.1%) and against the control group (5.1%) (p < 0.001). HBsAg positive markers were found in three cases, representing 4.4% among the older than 17's, against 0.4% of the general population (p < 0.05). There was some positive correlation with personal history of hepatitis (p < 0.01) and severely handicapped patients (p < 0.05) an there was no association with sex, duration of stay and Down's Syndrome. Our results indicate that seropositive B prevalence is similar to the general population in the mentally retarded younger than 17 years old and higher from this age on, which confirms the need for active prophylaxis in the youngest of this collective. Reviewing the Spanish studies we observe a lower prevalence of HBsAg(carriers) and HBV markers in open institutions than in closed institutions.

Adolescent↗