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Biomedical subjects

M Sancho

Publications and source records attributed to M Sancho.

At least 37 records · Page 2Linked to original sources

[A hydatid cyst in the vena cava inferior and right atrium with venous flow obstruction and pulmonary dissemination].

We report the case of a 62-year-old female patient operated for a hepatic hydatid cyst that years later was found to have a hydatid cyst in the inferior vena cava and right atrium that was the source of disseminated pulmonary spread of the disease and occlusion of the inferior vena cava blood flow. Cardiac hydatid disease is very uncommon and is frequently associated with a poor prognosis. The literature for hydatid disease of the heart is reviewed and the clinical and echocardiographic relevant findings of this patient are discussed.

Cardiomyopathies↗

[Congenital aneurysm of the sinus of Valsalva ruptured to right ventricle with a ventricular septal defect and aortic regurgitation].

We report the case of a patient with a congenital aneurysm of the sinus of Valsalva ruptured in the right ventricle, aortic valvular regurgitation and ventricular septal defect that remained asymptomatic for many years and presented clinically with severe volume overload of the heart and congestive heart failure. We describe the anatomic, echocardiographic and angiographic findings of this unusual entity with a review of the literature.

Adult↗

Computer assisted morphometric analysis of ram sperm heads: evaluation of different fixative techniques.

The recent development of automated systems for morphometric sperm head analysis has provided a series of objective parameters which have facilitated the standardization of morphological semen evaluation. This current work attempts to establish the optimum fixing conditions for the morphometric characterization of ram spermatozoa. Ejaculates were obtained from 5 Merino rams used for periodic collection of semen and were diluted at 1:50 with TEST medium. Air-dried smears were fixed either in ethanol-ether (1:1), 50% methanol, 2% glutaraldehyde or SUZA fixative, in which case the smear was pretreated with chloramine. The samples were then stained with commercial kit Hemacolor. Once the preparations had been mounted, they were analyzed with the Sperm Class Analyzer automatic sperm morphometry analysis system (ASMA). The minimum number of sperm cells analyzed per sample was 100. The parameters evaluated were the area, perimeter, length, width, shape factor and mass. The results showed significant differences in sperm head dimensions between the 4 fixation techniques, with the lowest values for all parameters corresponding to the SUZA fixative, followed by glutaraldehyde, methanol, and finally ethanol-ether. In addition, there were significant variations between animals. It can, therefore, be concluded that the working protocol must be defined when performing morphometric analysis of ram semen and that the results obtained under different conditions of fixation cannot be entirely extrapolated. Equally, the high variability among individuals suggests that, in a species like the ram with a low index of teratozoospermia, there is a need for a revision of the classic definition of normality, which should include morphometric data.

Animals↗

Study of the diagnostic value of strontium, chloride, haemoglobin and diatoms in immersion cases.

Tests of haemoglobin (Hb), strontium (Sr) and chloride (Cl), as well as diatoms, toxicological and pathological studies were performed in biological samples from 133 immersion fatalities occurred since 1991 to 1996 in central and northern Spain. Hb, Sr, and Cl where analyzed in blood samples where increasing decomposition could be demonstrated in most of the cases. The samples were frequently accompanied with well documented forensic reports, including autopsies findings and other circumstances of the death. The goal of our study is to evaluate the difference of blood Sr concentration between the left and right side of the heart (LVSr-RVSr) as a marker of drowning. For this purpose, the cases investigated were classified in 'typical drowning' (TD) cases and 'atypical drowning' (AD) cases. This last group was used as a control. The comparison of the LVSr-RVSr between TD and AD cases was highly significant (P = 0.0002) in blood specimens extracted from cases occurred in putative drowning media where Sr concentration was higher than 800 micrograms/l. No significant differences were found comparing neither Cl nor Hb biventricular concentrations between TD and AD cases in blood samples extracted from bodies found in both fresh and seawater.

Autopsy↗

A Spanish population study of the STR loci HumLPL, D5S818, D7S820 and D13S317.

Allele and genotype frequencies for four tetrameric short tandem repeat loci were determined in a Spanish population sample (N=193-225) using PCR. All loci met Hardy-Weinberg expectations and the results demonstrated the assumption of independence of the loci analysed. The allele frequency data can be used in identity testing to estimate the frequency of a multiple PCR-based DNA profile in the Spanish population.

Alleles↗

[Langerhans cell histiocytosis. Report of four cases].

Langerhans cell histiocytosis implies the proliferation and accumulation of anomalous, cytologically benign tissue macrophages in a given site. In the Hospital General y Universitario of Alicante, Spain, from 1975 to 1996 four patients presented with granulomatosis and otorhinolaryngological signs and symptoms: a 7-year-old girl with a right mastoid eosinophil granuloma, a 2-month-old boy with Letterer-Siwe syndrome whose illness started as acute mastoiditis, a 23-month-old boy who developed eosinophil granulomas of both mastoids and one ischium, and an 8-month-old girl with a right zygomatico-temporal eosinophil granuloma. The treatment and clinical course of each case is described and compared with the results of other authors.

Child↗

Detection of somatic mutations in the mitochondrial DNA control region of colorectal and gastric tumors by heteroduplex and single-strand conformation analysis.

Each entire hypervariable region of the mitochondrial DNA control region was screened for mutations from paired normal and tumor DNA corresponding to a group of 21 patients (13 colorectal and 8 gastric adenocarcinomas) using both heteroduplex analysis and single-strand conformation analysis. These two mutation scanning strategies allowed the identification of sequence alterations in 3/13 (23%) colorectal tumors and in 3/8 (37%) gastric tumors. Heteroduplex analysis showed the heteroplasmic state of the majority of these tumor mutations. Sequence analysis revealed two A:T/G:C transitions (nucleotide positions: 16241 and 16166) in hypervariable region 1 (HV1) and two C:G/T:A transitions (nucleotide positions: 76 and 312), one A:T/G:C transition (nucleotide position: 93), a 1-basepair C:G deletion (nucleotide position: 309), and a 2-base-pair CC:GG insertion (nucleotide position: 309) in the HV 2 region. A considerable proportion of these mutations was found in homopolymeric regions which are highly polymorphic among humans. Different mechanisms (clonal expansion, increased oxidative damage, and nuclear mutator mutations) were suggested to explain the increased mitochondrial DNA mutation rate observed in cancer.

Adenocarcinoma↗

Lobular carcinoma of the male breast associated with the use of cimetidine.

A case of carcinoma in the breast of a male patient with a chronic gastric ulcer is described. The patient had received cimetidine for 17 years. Histological examination of an excisional biopsy showed lobular in situ and infiltrating carcinoma. In our review of the English literature, this is the 18th case of lobular carcinoma of the male breast to be reported; it is also the first report of lobular carcinoma associated with the use of cimetidine, and the second in a man with documentation of genotype.

Anti-Ulcer Agents↗

[Cardiac papillary fibroelastoma. Different forms of the clinical presentation].

Papillary fibroelastoma is an uncommon cardiac tumor rarely diagnosed during life. Although most fibroelastomas are incidental findings at autopsy, a few cases have been associated with cardiac symptoms that include angina, arterial embolism and sudden death. We report the case of two patients, a 35-year-old male with an acute myocardial infarction and ventricular fibrillation and a 53-year-old asymptomatic female, with cardiac masses first detected by transthoracic echocardiography. A more detailed morphological study was provided by transesophageal echocardiography. After cardiac surgery, the anatomical study demonstrated that both tumors were papillary fibroelastomas. The literature concerning papillary fibroelastoma is reviewed.

Adult↗

[Acute endocarditis of the native aortic valve caused by Propionibacterium acnes].

Propionibacterium acnes is often considered to be a contaminant but it has also been found to be the principal pathogen in serious infections. P. acnes is a rare cause of infective endocarditis. It has been suggested that aortic root abscesses are caused by bacteria that are particularly virulent. The strongest risk factor for serious infections by this bacteria is the presence of foreign bodies. A case is presented in which endocarditis of a native aortic valve caused by P. acnes was associated with an aortic root abscess. Transesophageal echocardiography is particularly helpful in the diagnosis of this severe complication of infective endocarditis. The literature for P. acnes endocarditis is reviewed.

Adult↗

Microvessel density, p53 overexpression, and apoptosis in invasive breast carcinoma.

AIM: To investigate the possibility of a correlation among microvessel density, p53 overexpression, and apoptosis in invasive breast carcinoma. METHODS: Microvessel density was analysed in 105 cases of invasive breast carcinoma by immunohistology using antifactor VIII related antibody. The results were correlated with the immunohistochemical expression of p53 and the apoptotic index, detected using the in situ end labelling of fragmented DNA method (TUNEL). Assessment was made with a CAS 200 image analyser. All these studies were performed on formalin fixed, paraffin wax embedded tissue sections of tumour samples. RESULTS: The mean (SD) microvessel count was 47.2 (51.1), with a range from 7 to 250. Thirty five (33%) carcinomas showed overexpression of p53 protein. The apoptotic index of tumours ranged from 0.0 to 28.0, with a mean (SD) of 1.7 (3.2). The results showed that there was a significant inverse correlation between microvessel density and p53 expression (p = 0.04; odds ratio, 0.37). In contrast, no correlation was identified between the microvessel density and apoptotic index. CONCLUSIONS: These results suggest that in invasive breast carcinoma the p53 overexpression phenotype downregulates tumour neoangiogenesis, as does the wild-type of p53 protein. In addition, they suggest that apoptosis and neoangiogenesis in these tumours are independent processes.

Analysis of Variance↗

Malignant pheochromocytoma of the bladder: current controversies.

Urinary bladder pheochromocytoma is an uncommon tumor that produces hypertensive crises coinciding with micturition. It is usually benign, with less than 20 cases with evidence of metastasis described to date. We present a rare case of a malignant bladder pheochromocytoma with regional metastasis, where the pathological and scintigraphic findings are described. The controversy about pathology diagnosis, treatment and prognosis of this unusual tumor is discussed.

3-Iodobenzylguanidine↗

Rapid detection of sequence polymorphisms in the human mitochondrial DNA control region by polymerase chain reaction and single-strand conformation analysis in mutation detection enhancement gels.

The article describes a rapid approach for the detection of sequence polymorphisms in the mitochondrial (mt)DNA control region that involves enzymatic amplification of each entire mtDNA control region (HV1 and HV2) and the subsequent analysis of the PCR products by single-strand conformation analysis (SSCA) in mutation detection enhancement (MDE) gels, followed by silver stain detection. HV1 and HV2 SSC reference ladders were developed to standardize the classification of the different mtDNA types. Twenty-five mtDNA types were observed among the 45 Spanish individuals analyzed: 11 types were observed in the HV1 region as compared with 10 types in the HV2 region. This mutation scanning strategy could be a promising method of potential use not only in forensic genetics but also in population and evolutionary studies.

DNA, Mitochondrial↗

A HinfI polymorphism in the 5' flanking region of the human VNTR locus D1S80.

A restriction fragment length polymorphism (RFLP) characterized by the presence (HinfI+) or absence (HinfI-) of a HinfI site has been found in the 5' flanking region of the VNTR locus D1S80. RFLP-allele frequencies were determined from 82 unrelated individuals: HinfI+ = 0.49, HinfI- = 0.51. The RFLP/VNTR haplotype frequencies show an absolute association between the HinfI+ allele and the VNTR allele of 18 repeat units and an extreme association between the HinfI- allele and the VNTR allele of 24 repeat units. The remaining VNTR alleles associate more randomly with the 2 flanking HinfI alleles.

Adult↗

Spanish population data on 7 tetrameric short tandem repeat loci.

Allele and genotype frequencies for 7 tetrameric short tandem repeat loci were determined in a Spanish population sample (N = 186-244) using PCR and subsequent analysis of the PCR products by denaturing polyacrylamide gel electrophoresis followed by silver staining. The loci were HUMFES/FPS, HUMVWA, HUMTHO1, HUMF13B, HUMCSF1PO, HUMF13A1 and HUMTPOX and all loci met Hardy-Weinberg expectations. In addition, little evidence was found for association of alleles among the 7 loci. Thus the allele frequency data can be used in identity testing to estimate the frequency of a multiple PCR-based DNA profile in the Spanish population.

Gene Frequency↗

Extended dipolar chain model for ion channels: electrostriction effects and the translocational energy barrier.

We reinvestigate the dipolar chain model for an ion channel. Our goal is to account for the influence that ion-induced electrostriction of channel water has on the translocational energy barriers experienced by different ions in the channel. For this purpose, we refine our former model by relaxing the positional constraint on the ion and the water dipoles and by including Lennard-Jones contributions in addition to the electrostatic interactions. The positions of the ion and the waters are established by minimization of the free energy. As before, interaction with the external medium is described via the image forces. Application to alkali cations show that the short range interactions modulate the free energy profiles leading to a selectivity sequence for translocation. We study the influence of some structural parameters on this sequence and compare our theoretical predictions with observed results for gramicidin.

Electrochemistry↗

Biventricular measurement of blood strontium in real cases of drowning.

A simple method for blood strontium determination by spetrophotometry atomic absorption with Zeeman correction is proposed. This method is applied to real cases of death by drowning, where the difference in blood strontium concentration between the left and the right side of the heart could contribute, together with other data, to the investigation of causes of death in cases of drowning in salt water. The differences obtained in blood strontium concentrations between the left and the right side of the heart in cases of supposed 'typical drowning' in sea water were always > 75 micrograms Sr/l, compared to < 20 micrograms Sr/l found in two supposed cases of 'atypical drowning'.

Adolescent↗

Clinical and hemodynamic predictors of survival in patients aged < 65 years with severe congestive heart failure secondary to ischemic or nonischemic dilated cardiomyopathy.

To identify which clinical or hemodynamic parameters predict survival in patients with end-stage heart failure due to dilated cardiomyopathy, 130 consecutive patients aged < 65 years (mean 46 +/- 13) assessed for heart transplantation from May 1986 to April 1991 were studied. Mean follow-up was 15 +/- 11 months. Left ventricular ejection fraction was 22 +/- 7%. Left ventricular end-diastolic pressure was 27 +/- 9 mm Hg, and cardiac index was 2.2 +/- 0.6 liter/min/m2. Symptom class was IV in 91% of patients and III in 9%. Etiology was ischemic in 40% of patients and idiopathic in 60%. After intensive medical therapy, heart transplantation was considered indicated in 53% of patients, contraindicated in 20% and not indicated in 27%. Transplantation was performed in 36% of patients during follow-up, and 35% died and 29% were alive without transplantation. A comparison, excluding patients with transplantation, was performed between those who were alive and had survived > or = 6 months after assessment, and those who died. On multivariate analysis, the following 3 parameters were independent predictors of prognosis: intravenous inotropic requirement (p < 0.001), maximal, tolerated captopril dose (p = 0.013) and systolic blood pressure (p = 0.003). When patients with transplantation were considered as deaths, stabilization on medical therapy also reached statistical significance (p = 0.009). Classic prognostic markers including ventricular arrhythmias, left ventricular end-diastolic pressure, cardiac index, amiodarone therapy and etiology were not associated with prognosis in this homogeneous population of severely ill patients.

Adolescent↗