Successful first trimester diagnosis in a pregnancy at risk for propionic acidaemia.
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Biomedical subjects
Publications and source records attributed to C Ayuso.
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We have analyzed the origin, in a patient with 49,XXXXY, of the four X-chromosomes by means of recombinant DNA techniques. We found a maternal origin of the four X-chromosomes due to non-disjunctions in the first and second meiotic divisions.
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Fat replacement of the exocrine pancreas is a rare cause of exocrine pancreatic failure. We report two adult patients (a 25-year-old woman and a 63-year-old man) with weight loss and massive steatorrhea in whom abdominal computed tomograms were diagnostic of pancreatic lipomatosis. In both patients, oral pancreatic enzyme replacement in association with cimetidine led to a marked reduction of steatorrhea and weight gain. Pancreatic lipomatosis should be suspected in cases of severe exocrine pancreatic insufficiency in the absence of abdominal pain and diabetes. Computed tomogram scanning should lead to an increasing detection rate of this unusual condition.
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From 1978 to 1985 cytogenetic studies were performed on 718 patients with different hematologic diseases. Nine (1.25%) had a constitutional chromosome alteration. One patient had trisomy 21, four had balanced translocations and four had sex chromosome anomalies. Although the frequency of constitutional alterations was twice that seen in the newborn population, an analysis of these data and also from the literature shows a random association between constitutional chromosome alterations and hematologic neoplasias, except for patients with Down's syndrome.
Authors present a case of anencephaly with trisomy 18, diagnosed prenatally by altrasonographic screening and culture of amniotic cells. This association is rare in newborn children. They discuss if this is due to a high prenatal letality or a random event.
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Authors report cytogenetic findings in 34 alive newborns presenting congenital malformations in the first week (Group A). These findings have been tested with Group B (100 malformated children up to 12 years old) and Group C (1,000 hospital patients of any age). Chromosomic anomalies in 44, 22 and 15% of the groups respectively are found. Performance of kariotype in any newborn with congenital malformations for detection of chromosomic aberrations or familial translocations in disbalance is needed.
Carcinoma of the pancreas is a neoplasm with a poor prognosis that is diagnosed in the advanced stages in most patients. Given that surgical resection is the only potentially curative treatment for this disease, it is of the utmost importance to appropriately select the group of patients with initial stage pancreatic tumors that have not extended and can therefore be resected. Several different imaging techniques can be used for this purpose: ultrasonography (US), computed tomography (CT), magnetic resonance (MR), as well as the recent additions of endoscopic ultrasonography (EUS) and positron emission tomography (PET). Other techniques, such as laparoscopy and laparoscopic ultrasonography, also play a role in the diagnosis and staging of these patients. Continual technological developments in each of the above-mentioned techniques have led to reiterated updates in the scientific literature throughout the last two decades. This review aims to evaluate each of these techniques and present diagnostic algorithms reflected in the literature in order to achieve the greatest diagnostic accuracy in determining the extent of the disease so that unnecessary surgery can be avoided in cases not susceptible to resection.
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OBJECTIVE: To describe the ultrasound findings and its relationship with the cytogenetic study and the origin of the extra haploid chromosome set in four 69,XXX cases. METHODS: Four pregnant women were referred because of abnormal 2nd trimester ultrasound. Karytoypes, FISH and DNA analysis were performed. RESULTS: All cases presented asymmetrical intrauterine growth retardation, marked oligohydramnios and placental alterations and showed a 69,XXX karyotype. In three cases, DNA analysis allowed to establish the origin of the extra haploid chromosome set. CONCLUSIONS: At least three fetuses had a maternal extra haploid chromosome set. Thus, it has been possible to establish the main ultrasonographic markers and to observe the survival of the fetus until the second trimester when they have a maternal origin.