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Biomedical subjects

C Stoll

Publications and source records attributed to C Stoll.

At least 217 records · Page 12Linked to original sources
PubMed1983

Analysis of ventricular shape by echocardiography in normal fetuses, newborns, and infants.

Qualitative and quantitative changes in left ventricular shapes were analyzed in 14 normal fetuses, 29 normal newborns, and 12 normal infants. Qualitative observations demonstrated that most fetuses and newborns with dominant right ventricles had flattened or even indented interventricular septae, which changed left ventricular shape into an ellipse. In contrast, left ventricular shapes in infants were round, similar to shapes described in older children and adults. When changes in shape or septal distortions were gross, interobserver agreement was 100%; when changes were less altered from a circular shape, interobserver agreement was 78%. To avoid subjective misinterpretations, quantitative analyses were performed, including M mode echocardiographic comparisons of right ventricular/left ventricular dimensions and left ventricular cavity anterior-posterior/lateral diameters, as well as Fourier analysis of digitized tracings of the entire left ventricular shape. The right ventricular/left ventricular ratio, determined by M mode echocardiography, showed significant differences between fetuses (1.07 +/- 0.07) and newborns (0.62 +/- 0.12) (p less than .001). Infants had a significantly lower right ventricular/left ventricular ratio (0.45 +/- 0.01) when compared with newborns (p less than .01). Ratios of left ventricular anterior-posterior/lateral diastolic diameters were significantly lower (p less than .001) in newborns (0.66 +/- 0.08) when compared with those of infants (0.82 +/- 0.10). All diameters tended to increase (toward roundness) with systole and with aging. Fourier analysis allowed evaluation of the entire left ventricle, including that portion of the septum that qualitatively appeared most indented and could not be analyzed by either of the above techniques. Shape factor derived from idealized shapes ranging from a circle to an indented ellipse allowed comparison with digitized left ventricular tracings. This technique allowed accurate quantitation of the observed changes in shape. Fetuses had the highest diastolic shape factor (7.47 +/- 0.92), whereas infants' shape factors were lowest (2.12 +/- 0.41). A tendency toward roundness and loss of distortion occurred with aging. Systolic shape factor was lower with aging in each group studied. The Fourier technique used in this study allows evaluation of an arbitrarily large number of components of a shape, and thus a complete description of that shape is permitted. Comparisons of right ventricular/left ventricular diastolic dimensions and left ventricular anterior-posterior/lateral comparisons are subsets of this technique, which allow evaluation of only two points (circular component-first harmonic) or four points (elliptical component-second harmonic) of an overall shape.(ABSTRACT TRUNCATED AT 400 WORDS)

Echocardiography↗
PubMed1983

[Branchio-oto-renal dysplasia. A hereditary dominant autosomal syndrome with variable expression].

A pedigree of branchio-oto-renal dysplasia (BOR syndrome) is reported. BOR syndrome is an autosomal dominant disorder in which affected individuals may have branchial fistulas or cysts, preauricular pits, structural defects of the outer, middle an inner ear with hearing loss, and renal anomalies which may range from mild hypoplasia to complete absence. As shown in our pedigree, all carriers of the gene may not present with all features of the syndrome. In all individuals presenting with preauricular pits and branchial clefts, both otologic and renal investigations should be performed. Genetic counselling of family members is indicated.

Adult↗
PubMed1982

[Auer bodies and Ph1 chromosome: chronic myeloid pseudoleukemia?].

In 4 cases, the probable diagnosis was that of a chronic myeloid leukaemia (CML) in a blast crisis, because of the sudden acute onset and the presence of the Ph 1 chromosome. In each case, however, there were Auer bodies in the blasts, an unusual finding in CML. Cytological and cytochemical examination led respectively to the diagnosis of an M2 acute myeloblastic leukaemia (AML), according to the FAB classification, to that of a pre-leukaemia progressing to an M2 AML, to that of a M3 promyelocyte leukaemia, with numerous monocytes and finally, in one case, the diagnosis lay between a possible acute crisis of CML with Auer bodies or an acute myelo-monocyte leukaemia. These atypical findings did not conform to the classic picture of CML and cannot be classified as such in spite of the presence of the Ph 1 chromosome. To consider them as true CML would be to run a risk of distorting the haematological evolutive and therapeutic aspects of this disease.

Adult↗
PubMed1982

[Chromosomal abnormalities of the blastic phase of chronic myeloid leukemia].

The chromosomal involvement in the development of malignancy in chronic myeloid leukemia is not a random event. A second Ph1, a trisomy 8, an isochromosome 17q, a trisomy 17 are the main abnormalities. These aberrations use to occur as a karyotypic evolution, either simple or complicated. An extra-medullary development of blastic transformation was demonstrated by chromosomal analysis. It is difficult to demonstrate a correlation between chromosomal abnormalities and clinical evolution in the acute phase of chronic myeloid leukemia.

Chromosome Aberrations↗
PubMed1982

Y chromosome duplication in chronic myeloid leukemia.

Y chromosome duplication appeared in a patient with chronic myeloid leukaemia (CML) during blastic crisis. Additional chromosome changes were present. Y chromosome duplication may be a minor route of karyotype evolution in CML.

Adult↗
PubMed1982

Sister chromatid exchange and growth kinetics in chronic myeloid leukemia.

The frequency of sister chromatid exchange (SCE) was analyzed in bone marrow cells of 16 patients with chronic myeloid leukemia. We have compared the SCE frequency in these patients, in both chronic and blastic phases of the disease, to that of normal individuals. The frequency of SCE in blastic-phase chronic myeloid leukemia patients (mean, 1.86/cell) was significantly lower than that in chronic phase (mean, 2.96/cell), which was in turn lower than that in normal individuals (mean, 4.108/cell). We have used the SCE data to compare the rates of division of the bone marrow cells. Cells from chronic myeloid leukemia patients divided more slowly than did those from normal individuals, those from blastic-phase patients being slowest.

Adult↗
PubMed1981

Cytogenetic findings in 122 couples with recurrent abortions.

R-banded chromosome complements were analysed from 122 couples who had experienced three or more spontaneous abortions. Five women and one man were found to be carriers of translocations t(2;17), t(5;9), t(11;22), t(17;22), and t(13q14q). Two other karyotypes were abnormal: 46,XXq--and 47,XXX. Banded chromosome studies are recommended for couples with repeated abortions.

Abortion, Habitual↗
PubMed1980

Nonrandom distribution of exchange points in patients with reciprocal translocations.

A total of 770 breakpoints (80 of them identified by the authors) from unrelated patients with two-break rearrangements resulting in reciprocal translocations were studied to determine whether they were located preferentially. The distribution of breakpoints among the chromosome arms differs from that expected on the basis of their lengths, with more than expected on chromosome arms 4p, 9p, 9q, 13q, 18q, 21p, 21q, 22p, and 22q and fewer than expected on 1p, 1q, 3p, 3q, 5q, 6q, 7p, 12p, 16p, and the gonosomes. More breakpoints than expected occurred in the centromeric regions, and fewer in the median regions. Distribution of breakpoints within bands differed with the technique used: with G banding a many more breakpoints were localized in the light bands and fewer in the dark bands. With R banding no fewer than expected were present in the light bands and only slightly more were found in the dark bands.

Azure Stains↗
PubMed1980

Familial pterygium syndrome.

Two sisters affected with the same disorder are described. They had webbing of the neck, the antecubital fossae and the popliteal regions, together with flexion deformities of the limb joints and anomalies of the vertebrae. Eight other cases are known. The condition is inherited in an autosomal recessive mode.

Abnormalities, Multiple↗