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Biomedical subjects

F Prieto

Publications and source records attributed to F Prieto.

At least 91 records · Page 5Linked to original sources
PubMed1982

[Chronic diarrhea with selective IgA deficit associated with Turner's syndrome].

Three cases of selective IgA deficit with chronic diarrhea associated to Turner's syndrome are reported. The first patient presented gluten intolerance (celiac disease), confirmed by intestinal biopsy. The second patient turned out to suffer from cow's milk and gluten intolerance, and in the third an intestinal lambliasis was detected as well as gluten intolerance. Cytogenetic studies revealed in two patients a Turner's syndrome variant with isochromosome X, and the third presented Turner's syndrome associated with chromosome breakage. In all of the patients a history of repetitive upper respiratory infections and otitis was reported. The low incidence found in the literature of this rare association is also remarked, speculating about the role played by chromosome X in IgA synthesis.

Celiac Disease↗
PubMed1981

Pericentric inversions of chromosome 12 in two families.

Two cases of pericentric inversion of chromosome 12 are presented, one 46,XX,inv(12)(p13;q11) and the other was also a heterozygotic carrier of the inversion. These inversions were detected among 4035 cytogenetic analyses carried out in patients with psychosomatic retardation and/or malformations (357 with a Down phenotype) and in patients with histories of miscarriages, sterility, or growth failure. In cases studied from a review of the literature together with our own we found that among 3235 cases of Down syndrome there were 7 patients with trisomy 21 and inherited balanced reciprocal translocation involving chromosomes other than pair 21. The frequent participation of some chromosomes in these balanced reciprocal translocations, above all those of group A (1-3), suggests that these and probably other rearrangements could make the segregation of chromosome 21 easier.

Child↗
PubMed1980

Two reciprocal translocations t(9p+;13q-) and t(13q-;21q+): a study of the families.

Two reciprocal balanced translocations 46,XY,t(9;13)(p23;q21) and 46,XX,t(13;21)(q21;q21), identified by RFA-and GTG-banding, are presented along with a complete study of both families. In the second case a 3 : 1 segregation is associated with an unbalanced 2 : 2 segregation, as demonstrated in the two surviving sons: one with interchange trisomy 21 and the other with partial trisomy 13 and partial monosomy 21. This suggests that the presence of this translocation, and possibly of other translocations involving morphologically similar chromosomes, could signify a high risk of having chromosomal disorders in offspring.

Abnormalities, Multiple↗
PubMed1980

Heart-hand syndrome. III. A new syndrome in three generations.

We have studied members of three generations of the same family affected by brachydactyly, which is accompanied by intraventricular conduction defects in three cases (proband's father and two of his sons) and sick sinus syndrome in the proband. The brachydactyly described affects mainly the middle phalanges of both hands; the index and fifth fingers are more severely affected than the other fingers. It also includes a rare variant with an ossicle on the proximal phalanx of both index fingers, which reduces them in length and causes them to deviate towards the ulnar border of the hand. The feet also tend to be affected, but to a lesser degree. No other pathological findings were recorded. It is therefore suggested that the anomalies detected in this family are transmitted by an autosomal dominant mode of inheritance, thus forming a syndrome.

Adult↗
PubMed1978

10p- syndrome associated with multiple chromosomal abnormalities.

A karyotype with six de novo autosomal abnormalities in chromosomes 2,4,9,10,12, and 13 was identified in a 7-year-old boy with mental retardation and other minor malformations. The G- and C-banding techniques revealed an equilibrated translocation between autosomes 2 and 4 and between autosomes 9 and 13. One chromosome 10 has lost genetic material from its short arms, probably because of an interstitial deletion. An unidentified chromosomal fragment has become inserted in the long arms of an autosome 12. The G bands demonstrate that genetic material inserted in the autosome 12 is not the genetic material deleted from the autosome 10. The propositus presents clinical features similar to the reported cases with 10p- syndrome. Nevertheless it is not possible to establish the influence of the genetic material inserted in autosome 12 on the propositus' phenotype.

Child↗
PubMed1978

Spirometry in healthy men: a correlation with smoking and with mild symptoms.

Symptoms, smoking history, and variates taken from the forced expiratory manoeuvre were studied in a group of 271 healthy men attending a mass radiography unit. It was found that correlation of the forced expiratory ratio (FEV1/FVC) with the presence of mild or moderate respiratory symptoms was at least as satisfactory as that of technically more complicated measurements such as MEF50 and MEF75. In asymptomatic individuals those differences associated with smoking were the same for FEV1/FVC as for MEF75. Asymptomatic abnormalities of lung function were not observed. Simple measurements such as FEV1/FVC can therefore provide as much information from a forced expiratory manoeuvre to screen for early airways obstruction as MEF50 and MEF75.

Adolescent↗
PubMed1977

Intrasubject variability of maximal expiratory flow volume curve.

Analysis of airflow in the terminal portion of the maximal expiratory flow volume curve has been suggested as a useful test for the early diagnosis of chronic airways obstruction. Whether such an analysis can identify early disease, and whether any subsequent action can prevent the progress of chronic airways obstruction, is unknown and will require prospective studies. As a precursor of such a study we have tried to establish the intrasubject variability of those tests of forced expiration which may be used for screening. We therefore measured expiratory flow volume curves of five healthy males and five healthy females aged 20-30 years as this is an age-group in which early detection of airways obstruction may be of value. Flow volume curves were obtained on the same day of the week for six weeks, and on three separate days during this period we carried out three flow volume curves every hour from 9 am to 6 pm. The data were subjected to analysis of variance to determine the variability of each measurement. Data were collected from forced expired volume in one second (FEV1) forced vital capacity (FVC), maximum expiratory flow rates at 50% and 75% of expired vital capacity, and forced expiratory time (FET). The results showed no consistent pattern of diurnal variation over the working day. The variation in any subject for FEV1 and FVC over the study period was considerably less than variations detected in the maximal expiratory flow rates at 50% and 75% of the expired vital capacity and FET. Our results suggest that the intrasubject variation found in flow rates of the terminal portion of the maximal expiratory flow volume curve and forced expiratory time may limit the usefulness of these tests in detecting early airways obstruction. FEV1 and FVC are more reproducible tests and are therefore particularly suited for cross-sectional screening. The more sensitive maximal expiratory flow volume curve may, however, be more useful for long-term studies in individuals when the onset of disease is sought, or for short-term challenge studies requiring the most sensitive index of change in airway characteristics.

Adult↗