Biomedical subjects
Publications and source records attributed to C Ayuso.
Prenatal diagnosis of sex differentiation disorders is extremely rare and is estimated in 1/2500 analyzed gestations. A group of this disorders are the 46, XX males and its incidence is estimated in 1/20000 male neonates. We report a male XX fetus in which the diagnosis of sex determination was requested at 20 gestation weeks to clarify the real gender of the fetus. Discrepancy between cytogenetic and ultrasonographic was detected.
The objective of this study was to assess the efficacy of contrast-enhanced ultrasonography (CEUS) with SonoVue to evaluate the response to percutaneous treatment (ethanol injection/radiofrequency) of hepatocellular carcinoma in comparison with spiral computed tomography (CT) immediately and 1 month after treatment. Forty-one consecutive cirrhotic patients with early stage tumor (not suitable for resection) were included. Spiral CT and CEUS were performed in all patients before treatment, in the following 24 h, and 1 month later. The results of each examination were compared with the 1-month spiral CT, considered the gold standard technique. The 24-h CEUS and the 24-h spiral CT sensitivity to detect residual disease were 27% and 20%, respectively. The 24-h CEUS and the 24-h spiral CT positive predictive value of persistent vascularization detection were 75% and 66%, respectively. The 1-month CEUS detected partial responses in ten out of 11 cases (91% sensitivity, 97% specificity, 95% accuracy). Spiral CT and CEUS performed in the 24 h following treatment are slightly useful to evaluate therapeutic efficacy. The 1-month CEUS has a high diagnostic accuracy compared with spiral-CT in the usual assessment of percutaneous treatment response.
Usher syndrome type I is the most severe form of Usher syndrome. It is an autosomal recessive disorder characterized by profound congenital sensorineural deafness, retinitis pigmentosa, and vestibular abnormalities. Mutations in the myosin VIIA gene (MYO7A) are responsible for Usher syndrome type 1B (USH1B). This gene is thought to bear greatest responsibility for USH1 and, depending on the study, has been reported to account for between 24% and 59% of USH1 cases. In this report a mutation screening of the MYO7A gene was carried out in a series of 48 unrelated USH1 families using single strand conformation polymorphism analysis (SSCP) and direct sequencing of those fragments showed an abnormal electrophoretic pattern. Twenty-five mutations were identified in 23 out of the 48 families studied (47.9%). Twelve of these mutations were novel, including five missense mutations, three premature stop codons, three frameshift, and one putative splice-site mutation. Based on our results we can conclude there is an absence of hot spot mutations in the MYO7A gene and that this gene plays a major role in Usher syndrome.
OBJECTIVES: Computed tomography (CT) is a diagnostic tool that has won acceptance in the past years for the vascular evaluation of living renal donor (LRD) candidates. We show the findings observed in a series of 102 candidates consecutively evaluated in our centre and present the correlation with the surgical data obtained in those individuals finally operated. METHODS: From May 1995 to June 2005, 102 LRD candidates were evaluated with CT. Eighteen were also studied with digital subtraction angiography (DSA). Fifty-eight donors underwent nephrectomy. Prevalence of arterial and venous variants found on CT exams were analyzed, as well as the correlation with surgical and DSA data when they were obtained. RESULTS: Forty-four percent candidates showed multiple renal arteries at least in one kidney. Seventy-one percent of right kidneys and 76% of left kidneys had a single arterial pedicle. Early branching was observed in 7.8% and 15.7% in right and left kidneys respectively. Venous variants were present in 17.5% and the 13.7% in right and left sides respectively. Sensitivity, specificity and accuracy of CT to detect accessory arteries were 89%, 100% and 97% respectively when it was compared to DSA. Correlation with surgical data raised 93% for the presence of arterial variants. CONCLUSIONS: Vascular variants in renal pedicle showed a high prevalence. Helical CT can effectively achieve all the information required prior to surgery as a sole imaging procedure in LRD candidates.
Mutations in USH2A gene have been shown to be responsible for Usher syndrome type II, an autosomal recessive disorder characterised by hearing loss and retinitis pigmentosa. USH2A was firstly described as consisting of 21 exons, but 52 novel exons at the 3' end of the gene were recently identified. In this report, a mutation analysis of the new 52 exons of USH2A gene was carried out in 32 unrelated patients in which both disease-causing mutations could not be found after the screening of the first 21 exons of the USH2A gene. On analysing the new 52 exons, fourteen novel mutations were identified in 14 out of the 32 cases studied, including 7 missense, 5 frameshift, 1 duplication and a putative splice-site mutation.
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Choroideremia (CHM) is an X-linked recessive ophthalmic disease characterized by a progressive degeneration of the choroid and the pigmented epithelium of the retina. We present the genetic characterization of a female patient affected with CHM who has been previously studied cytogenetically and showed a balanced translocation between chromosomes X and 4 [46,X,t(X;4)(q21;p16)]. The breakpoint in the X chromosome lies in the locus of CHM gene and for this reason, we have elucidated whether or not CHM was disrupted in the X chromosome involved in the translocation using different techniques. FISH showed that the 3'UTR and the last exons of the CHM were on the der(X) chromosome, and the 5'UTR and first exons of this gene were on the der(4) chromosome. Expression level analysis revealed that the breakpoint in the der(X) was located between exons 8 and 9 of the CHM gene because the expression level decreased from this point onwards. Based on this result the expression level analysis proved to be a valid method to pinpoint the location of breakpoints when the gene being expressed in peripheral blood is disrupted. Our results confirmed that the CHM gene was indeed disrupted in the X chromosome involved in the translocation. Besides, the nonrandom inactivation of the normal X chromosome observed using a methylation-specific polymerase chain reaction (M-PCR) technique explained the CHM in the female patient.
Patients with Usher syndrome type II (USH2) show moderate-to-severe hearing loss (HL), retinitis pigmentosa and normal vestibular function. The progression of HL remains controversial. To evaluate whether a phenotype-genotype correlation exists regarding the issue of progression of HL, only USH2 patients with a defined genotype were selected. Ophthalmologic, vestibular and audiometric examination along with a mutation analysis of the USH2A gene (exons 1--21) was performed in twenty-eight Spanish USH2 patients. Ten different pathogenic mutations and 17 sequence variants not associated with the disease were found. Six of the 10 mutations are novel. Disease alleles were identified in 13 of the 28 families tested. Eight of these 13 families had a mutation found in both alleles. In the other five families, only one mutation was identified. The phenotypic data provide evidence for the existence of phenotypic differences between patients with the same genotype. These differences were observed at both the interfamilial and intrafamilial levels.
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OBJECTIVE: To describe the characteristics of patients included in the pancreatic tumor registry of the Hospital Clínic of Barcelona. PATIENTS AND METHOD: All patients with pancreatic tumors attended between July 1990 and March 2003 were registered. Data collection included: age, gender, date of diagnosis, diagnosis, histology, size, location and tumor stage, and treatment. The correlation between tumor stage and age, date of diagnosis, and tumor location was also evaluated. RESULTS: Six hundred thirty patients with pancreatic tumors were included, representing an incidence of 60 patients/year. The mean age was 66 years and the male-to-female ratio was 1,18:1. The most frequent lesion was malignant tumor of the pancreas (92%), and the most frequent histological type was pancreatic ductal adenocarcinoma (73%). The most frequent location was the head of the pancreas (64%). In 28% of the patients, pancreatic cancer was diagnosed in stage I and II. Resection was performed in 31% of patients, whereas 48% of the patients received no treatment. The ratio between local (stage I)/disseminated (stage IV) disease was 0,34. The ratio between stage I/IV increased with age, diagnosis prior to 1994, and tumor location in the head of the pancreas. CONCLUSION: Hospital tumor registries can be used to define the profile of the attended population, which can help to delineate the best diagnostic-therapeutic strategy and can be useful in clinical research.
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