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Biomedical subjects

A Cao

Publications and source records attributed to A Cao.

At least 325 records · Page 18Linked to original sources
PubMed1977

Agenesis of the corpus callosum, infantile spasms, spastic quadriplegia, microcephaly and severe mental retardation in three siblings.

A sibship consisting of three siblings, one male and two females with unrelated parents, showed a clinical syndrome including: infantile spasms with hypsarrhythmia, microcephaly, severe mental retardation and spastic quadriplegia. The pneumoencephalogram performed in two sibs showed agenesis of the corpus callosum and aqueductal stenosis with tri-ventricular dilatation. The disorder did not show a progressive course with deterioration of mental and neurologic functions. No biochemical or cytogenetic defect could be identified. Complement fixation for cytomegalovirus was negative. This syndrome complex is probably inherited as an autosomal recessive trait. The clinical and the genetic aspects of the syndrome are discussed.

Abnormalities, Multiple↗
PubMed1977

Quantitation of Hb a2 with DE-52 microchromatography in whole blood as screening test for beta-thalassemia heterozygotes.

HB A2 was assayed by means of DE-52 microchromatography in hemolysates from 285 normal subjects and 223 beta-thalassemia heterozygotes. No overlap was found between both groups. Comparable results were observed analyzing whole blood samples collected in capillary tubes from 550 normal subjects and 295 beta-thalassemia heterozygotes. Our results demonstrate that this technique is useful in a screening program for beta-thalassemia trait.

Adult↗
PubMed1976

A family of juvenile proximal spinal muscular atrophy with dominant inheritance.

A family with juvenile proximal spinal muscular atrophy with dominant inheritance and complete penetrance is reported. The disease occurred in three generations and showed high variations in the age of onset and progression among the affected members. A characteristic feature was the constant involvement of facial nuclei.

Adolescent↗
PubMed1975

A case of extra small acrocentric bisatellited chromosome in a non mongoloid child.

A mentally retarded child with an extra small bisatellited acrocentric chromosome is described. The patient exhibited rather unspecific clinical signs such as strabismus, marked facial asymmetry, broad and prominent nasal bridge, hypertelorism, Brushfield's spots, malformed ears with atresia of the external auditory canal on the right side. Giemsa banding (R and G methods) did not allow a clear cytogenetic identification of the extra-chromosome. A tentative interpretation of the cytogenetic aberration as a trisomy of the proximal part of the long arm of chromosome 13 is discussed.

Abnormalities, Multiple↗
PubMed1975

[Physiological proteinuria. Data of acrylamide-SDS gel electrophoresis and other methods of qualitative and quantitative analysis].

Since detection of the first stage of nephropathies requires an exact definition of physiological proteinuria, this has been sought in 97 healthy individuals. Measured by a modification of the biuret reaction, physiological proteinuria did not exceed 100 mug/min in the recumbent position (average of 24.5 mug/min) and 150 mg/24 h (average of 51 mg/24 h). No significant differences were seen with respect to age or sex. Qualitative analysis of urinary proteins was done by cellulose acetate electrophoresis, immunoelectrophoresis and polyacrylamide-SDS electrophoresis. This latter method has the great advantage of classifying the proteins according to their molecular weight, wtihout electrostatic interference. Its graphic representation delineates a normal zone allowing an objective distinction between physiological and pathological proteinurias. In the majority of cases, the proportion of albumin is between 25 and 55%. The orthostatic position increases proteinuria (average of 41 mug/min) with a tendency to a distribution which erroneously suggests a glomerulopathy. Accordingly, investigation for small changes in proteinuria should always be carried out on urine formed in the recumbent position.

Adult↗
PubMed1975

Progressive external ophthalmoplegia associated with retinal pigment epitheliopathy.

The diagnosis of ocular myopathy associated with a primary retinal pigment epitheliopathy in a 20-year-old man was based on the integrity of the retinal functions, despite progressive worsening of muscular activity in the systems affected by the disease, and on the results of retinal fluorescein angiography. Although the changes in the pigment epithelium were not prominent ophthalmoscopically, they were clearly visible angiograpically. Atypical forms of retinal pigment dystrophy occurring during the course of ocular myopathy appear to be clinical expressions of a unique genetic defect confined to the pigment epithelial layer. We assume that the gene is capable of inducing a pleiotropic effect.

Adult↗