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Biomedical subjects

L Castilla

Publications and source records attributed to L Castilla.

18 recordsLinked to original sources
PubMed1998

Sarcoidosis, sclerosing cholangitis, and chronic atrophic autoimmune gastritis: a case of infiltrative sclerosing cholangitis.

We report a patient in whom sarcoidosis coexisted with sclerosing cholangitis and chronic atrophic autoimmune gastritis. There are some autoimmune diseases associated with primary sclerosing cholangitis; the difference between sarcoidosis and all other autoimmune diseases associated with primary sclerosing cholangitis is the ability of the former to damage the biliary tree. Moreover, when sarcoidosis behaves like cholestasis it can damage the biliary tree, mimicking primary sclerosing cholangitis, with high immunoglobulin M but without inflammatory bowel disease and p-ANCAs negative. We believe that it should be regarded as a single disease "infiltrative sclerosing cholangitis" because this is not a primary disease and sarcoidosis would be responsible for a beaded biliary tree.

Adult↗
PubMed1995

A collaborative survey of 80 mutations in the BRCA1 breast and ovarian cancer susceptibility gene. Implications for presymptomatic testing and screening.

OBJECTIVES: To report the initial experience of an international group of investigators in identifying mutations in the BRCA1 breast and ovarian cancer susceptibility gene, to assess the spectrum of such mutations in samples from patients with different family histories of cancer, and to determine the frequency of recurrent mutations. DESIGN: Nine laboratories in North America and the United Kingdom tested for BRCA1 mutations in DNA samples obtained from a total of 372 unrelated patients with breast or ovarian cancer largely chosen from high-risk families. Three of these laboratories also analyzed a total of 714 additional samples from breast or ovarian cancer cases, including 557 unselected for family history, for two specific mutations that had been found to recur in familial samples. PARTICIPANTS: A total of 1086 women with either breast or ovarian cancer. MAIN OUTCOME MEASURE: The detection of sequence variation in patients' DNA samples that is not found in sets of control samples. RESULTS: BRCA1 mutations have now been identified in a total of 80 patient samples. Thirty-eight distinct mutations were found among 63 mutations identified through a complete screen of the BRCA1 gene. Three specific mutations appeared relatively common, occurring eight, seven, and five times, respectively. When specific tests for the two most common mutations were performed in larger sets of samples, they were found in 17 additional patients. Mutations predicted to result in a truncated protein accounted for 86% of the mutations detected by complete screening. CONCLUSIONS: The high frequency of protein-terminating mutations and the observation of many recurrent mutations found in a diverse set of samples could lead to a relatively simple diagnostic test for BRCA1 mutations. More data must be accumulated to address specifically the sensitivity and specificity of such a diagnostic testing procedure and to better estimate the age-specific risk for breast and ovarian cancer associated with such mutations.

Adult↗
PubMed1995

Transcript identification in the BRCA1 candidate region.

Chromosome 17q12-21 is known to contain a gene (or genes) which confers susceptibility to early-onset breast cancer and ovarian cancer (BRCA1). Identification and isolation of BRCA1 will likely provide the basis for increased understanding of the pathogenesis of breast and ovarian cancer, the development of targeted diagnostic and therapeutic approaches, and a means of screening women at risk of being BRCA1 mutation carriers. Genetic and physical maps of the BRCA1 candidate region have been largely completed and efforts are being directed at identification of candidate genes from within this region. We have begun the task of identifying transcripts from this region employing three complementary strategies. These include: 1) direct cDNA screening with cosmids derived from the BRCA1 region; 2) exon amplification; and 3) magnetic bead capture. Transcripts identified using these approaches are being characterized for: 1) tissue expression pattern; 2) the presence of genomic rearrangement in DNA derived from affected members of families believed to show linkage between breast cancer and genetic markers in the BRCA1 candidate interval; 3) altered size and/or expression pattern in RNA prepared from such individuals; and 4) homology to known genes or functional motifs. Germline mutations in affected individuals from these families will serve as presumptive evidence of BRCA1 identity.

Breast Neoplasms↗
PubMed1995

Hepatic and blood lead levels in patients with chronic liver disease.

OBJECTIVE: To investigate the relationship between lead levels in the liver and blood, liver function indices and other biological variables in patients with liver disease. DESIGN: Prospective study. METHOD: The levels of lead in blood and hepatic tissue was measured in 92 patients with different liver diseases and in a control group (n = 100). Lead levels were analysed by electrothermic atomic absorption spectrophotometry. RESULTS: For controls, the mean lead level in blood was 175 +/- 87 micrograms/l. Blood lead levels were significantly linked with alcohol intake. They were raised in patients with alcoholic liver disease, including both those with cirrhosis (230 +/- 65 micrograms/l) and those with chronic non-cirrhotic liver disease (247 +/- 82 micrograms/l). The differences between these subgroups, the control group, and the patients with non-alcoholic liver disease were statistically significant. The mean hepatic lead level for patients was 2.30 +/- 1.40 micrograms/g dry weight (d.w.), and 2.15 +/- 1.71 micrograms/g d.w. for controls (not significant). Patients with alcoholic cirrhosis had higher hepatic lead levels than non-alcoholic patients (2.62 +/- 1.48 micrograms/g d.w. versus 2.07 +/- 1.14 micrograms/g d.w., respectively), although the difference was not statistically significant. There was no relationship between blood and hepatic lead levels (r = 0.27; not significant). Blood lead levels correlated with phosphorus (r = -0.36; P < 0.001), and alcohol intake (g/day; r = 0.32; P < 0.001). Blood and hepatic lead levels in patients with cirrhosis were similar for patients with Child-Pugh class A, B and C disease. CONCLUSIONS: Increased levels of lead were found in the blood of patients who consumed alcohol and those with alcoholic liver disease. Our data suggest that both blood and hepatic lead levels are not influenced by changes in liver function.

Adolescent↗
PubMed1994

Progress toward isolation of a breast cancer susceptibility gene, BRCA1.

The high incidence of breast cancer and/or ovarian cancer in some families appears to be due to germ-line mutations in BRCA1. Genetic analysis of such families suggests that the BRCA1 candidate region lies between D17S857 and D17S78 on chromosome 17q21 (Kelsell et al. 1993; Simard et al. 1993). To identify and isolate BRCA1, we have used linkage and meiotic recombination analysis, characterized regions displaying LOH in tumor DNA from BRCA1-linked families, performed YAC and cosmid clone isolation and ordering, and used three complementary transcript-searching strategies. We have identified as many as 28 genes from the BRCA1 candidate region, and we are searching for constitutive mutations in these candidate genes by several methods in an attempt to identify BRCA1.

BRCA1 Protein↗
PubMed1992

Expressed genes, Alu repeats and polymorphisms in cosmids sequenced from chromosome 4p16.3.

The sequences of three cosmids (90 kilobases) from the Huntington's disease region in chromosome 4p16.3 have been determined. A 30,837 base overlap of DNA sequenced from two individuals was found to contain 72 DNA sequence polymorphisms, an average of 2.3 polymorphisms per kilobase (kb). The assembled 58 kb contig contains 62 Alu repeats, and eleven predicted exons representing at least three expressed genes that encode previously unidentified proteins. Each of these genes is associated with a CpG island. The structure of one of the new genes, hda1-1, has been determined by characterizing cDNAs from a placental library. This gene is expressed in a variety of tissues and may encode a novel housekeeping gene.

Amino Acid Sequence↗
PubMed1991

[Primary segmental sclerosing cholangitis associated with Sjögren's syndrome].

We report the case of a patient with primary sclerosing cholangitis associated with Sjögren's syndrome and Raynaud's phenomenon, an uncommon association. The presence of periportal lymph nodes with features similar to those described in autoimmune diseases suggests an immune pathogenesis of the disease. The localized and segmentary involvement of the common duct is also an uncommon finding. The pathogenetic and therapeutic aspects are discussed.

Aged↗
PubMed1990

[Wine as a source of lead contamination: study in the southern region of Sevilla].

To assess whether the wines from the south of Sevilla constitute a source of lead intoxication we have prospectively studied the blood levels of lead in 100 healthy controls, 100 patients with alcoholic and nonalcoholic hepatopathy and at the same time the lead content in 135 samples of water and in 176 samples of alcoholic drinks consumed by the above patients. The results demonstrate: 1) presence of normal amounts of lead (mean +/- SD = 62 +/- 5 micrograms/l) in 97 of wines analyzed; 2) a higher content of lead in wines from areas close to the highway A-4 (100 +/- 10 micrograms/l) than in those from more remote zones (42 +/- 3 micrograms/l, p less than 0.005); and 3) although the blood levels of lead in alcohol consumers are not at the toxic range (22.9 +/- 8.9 micrograms/l) are, however, significantly higher (p less than 0.0007) than in patients with no alcohol intake (16.8 +/- 9.9 micrograms/l) or in healthy persons (17.1 +/- 7.4 micrograms/l, p less than 0.0008). Blood levels of lead correlate with the condition of "usual drinker" but not with the amount of alcohol consumed, number of cigarettes, lead content of water and wine, nor with the existence of severe hepatopathy among the studied factors. Our results suggest that alcohol influences the lead metabolism and that the usual drinkers constitute a risk population for saturnism.

Alcoholism↗
PubMedDate not supplied

Epiglottitis: a disease of all ages.

Epiglottitis is an acute life-threatening infectious condition characterised by local supraglottic inflammation. Although it is predominantly a disease of childhood, it occurs in all age groups. The risk of sudden complete airway obstruction necessitates careful monitoring, prompt responses and clinical expertise in airway management.

Adult↗
PubMedDate not supplied

[Prospective study on the influence of gastroduodenal ulcer hemorrhage on the diagnostic methods in Helicobacter pylori infection].

BACKGROUND: To know the influence of upper gastrointestinal bleeding in diagnostic methods of H. pylori infection. METHODS: We prospectively studied patients with peptic ulcers: 55 with upper gastrointestinal bleeding and 62 without upper gastrointestinal bleeding. We analysed the results of culture, urease test, Gram, histology and serological test IgG and IgA in both groups. H. pylori infection was determined by a positive culture or positive urease test and histology. RESULTS: Patients with upper gastrointestinal bleeding were older, but there were not statistical differences in sex, H. pylori prevalence infection or duodenal or gastric ulcers between patients with and without upper gastrointestinal bleeding. 78% having H. pylori infection. The urease test had a false negative rate in patients with upper gastrointestinal bleeding of 22% but only 3% in patients without upper gastrointestinal bleeding (p < 0.05). The culture, histology and Gram had higher false negative rate in upper gastrointestinal bleeding group than in non upper gastrointestinal bleeding group but without statistical significance. All patients with false negative urease test had antral culture positive. CONCLUSIONS: Urease test has a high false negative rate when is studied in patients with peptic ulcers and upper gastrointestinal bleeding. Caution should be made if urease test was used alone for diagnosis in patients with upper gastrointestinal bleeding. Urease test and culture together could be a good diagnostic method.

Adult↗