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Biomedical subjects

C Legum

Publications and source records attributed to C Legum.

At least 55 records · Page 3Linked to original sources
PubMed1980

Ultrastructure of the conjunctiva, skin, and gingiva: a case of Sandhoff's disease in a Jewish patient.

Pleomorphic membranous cytoplasmic bodies that indicated glycolipid storage were found in the conjunctiva, skin, and gingiva of a Jewish patient with Sandhoff's disease. The clinical symptoms were typical of GM2 gangliosidosis. Both hexosaminidase A and hexosaminidase B activities were deficient in the leukocytes and serum. Glycosaminoglycan levels in cultured fibroblasts were elevated. Membranous cytoplasmic bodies were observed in high concentrations in a large proportion of the vascular endothelial cells, pericytes, and Schwann cells and to a somewhat lesser extent in the fibrocytes of all tissues studied. Ultrastructural analysis of the conjunctiva, skin, and gingiva as an aid for the diagnosis of Sandhoff's disease is suggested.

Capillaries↗
PubMed1979

Cleidocranial dysplasia. A family study.

The incidental observation of Wormian bones in the skull and defective ossification of the public symphysis in a mildly scoliotic 12-year-old girl prompted a clinical and radiological study of members of her family. The diagnosis of cleidocranial dysplasia (CCD) was established by observing similar skeletal abnormalities in eight out of ten of them but the classical clavicular defect in only one, the last to be examined. Abnormal modelling of the medial end of both clavicles was observed in all those affected. A modelling defect of the public bones is suggested as an additional, hitherto undescribed, radiological sign. The progression with age of certain radiological features of CCD is discussed. It is suggested that this family represents an atypical variant of CCD. Such variance may be more prevalent in patients with mild scoliosis than presently suspected. A complete skeletal survey with espeical attention to the skull, pelvis and medial aspect of the clavicle and family studies may be essential for the definitive diagnosis of CCD in certain patients.

Adolescent↗
PubMed1978

Cyclopia associated with triploidy and hydatidiform mole: a case report.

A live 22-week-old cyclops fetus with a 69 XYY chromosome pattern and partial hydatidiform mole of the placenta is reported. Although cyclopia and chromosomal triploidy have certain features in common they appear to be two quite distinct entities. As no other 69 XYY fetus has survived to 22 weeks gestation and no other case of cyclopia has been reported with a triploid set of chromosomes, the assumption that the two conditions occurred coincidently in this fetus will have to await the accumulation of additional case reports.

Aneuploidy↗
PubMed1978

Congenital tyrosinemia.

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Amino Acid Metabolism, Inborn Errors↗
PubMed1978

A new variant of mannosidosis with increased residual enzymatic activity and mild clinical manifestation.

A partial deficiency of alpha-mannosidase was found in cultured skin fibroblasts, serum, and extracts of leukoytes in two siblings with mild mental retardation, delayed speech, a suggestion of coarse or full facies, and limited mobility of the large joints. All other lysosomal enzymes tested were within the normal range. Their father demonstrated intermediate alpha-mannosidase activity. The addition of 2 mM Zn++ caused a 40% increase of the alpha-mannosidase activity in cell extracts of both patients and control subjects. pH profiles and Cellogel electrophoresis of the patients' cells indicated 20% residual activity of the acidic alpha-mannosidase isoenzyme (pH optimum at 4.0), whereas the activity of the isozyme with pH optimum of 6.0 was normal. Increasing substrate concentration (1--10 mM) demonstrated a 4 to 5-fold increase in the apparent Km of the acidic alpha-mannosidase in the patients' fibroblasts. This residual activity, however, was apparently not sufficient for the normal catabolism of mannose-containing molecules, since electron microscopic examination of the cultured fibroblasts demonstrated numerous lysosomal storage bodies.

Arylsulfatases↗
PubMed1977

Prenatal diagnosis of mucolipidosis IV by electron microscopy.

Mucolipidosis IV, a recently recognized metabolic storage disease, is characterized clinically by corneal opacity in infancy, full facial features, and psychomotor retardation. Electron microscopy of cells from a 2-year-old affected girl revealed multiple cytoplasmic storage bodies. Cultured amniotic fluid cells, in two subsequent pregnancies, demonstrated similar abnormal storage bodies. Electron microscopic examination of various uncultured tissues from one abortus demonstrated abnormal inclusions in the cells of the brain, cornea, conjunctiva, and other epithelial tissues, thus confirming the prenatal diagnosis. This suggests that mucolipidosis IV is an autosomal recessive trait and demonstrates the efficacy of electron microscopy in the prenatal diagnosis of metabolic storage diseases whose biochemical defect is yet unknown.

Amniotic Fluid↗
PubMed1977

Jadassohn-type anetoderma in association with keratoconus and cataract.

The unusual association of macular atrophy--Jadassohn type of anetoderma, bilateral subcapsular ocular cataracts and keratoconus--is described in an otherwise healthy adult male. This association has not, to the best of our knowledge, been previously described. The possibility that this is not a chance association is discussed.

Atrophy↗
PubMed1977

Radiological aspects of the vertebral components of osteochondrodysplasias.

Analysis of the individual components of the vertebrae permits the radiologist to identify and understand the fundamental physio-pathologic growth mechanisms affecting shape, size and architecture which operated during development. The achievement of this goal is facilitated by systematically paying attention to changes of the vertebral end-plates, anterior and posterior aspects of the vertebral body, the vertebral rim, neurocentral junction and interpedicular distance. The dynamic changes noted in follow-up studies of the spine in certain dysplasias may reveal the developmental history of the vertebral complex. The dimension of time is an important factor, which the radiologist has a unique opportunity to exploit. Vertebral configuration permits radiological analysis and diagnosis.

Adolescent↗
PubMed1977

The Dyggve-Melchio-Clausen syndrome.

Two families with Dyggve-Melchior-Clausen syndrome are reported. In the first family, Jews from Morocco, six of 10 siblings are affected. In the second family, a consanguineous marriage of Arabs from Gaza, two of three children are affected. A description of the skeletal changes in patients ranging in age from 4 to 25 years is presented. The radiologic signs of generalized platyspondyly with double humped end plates and the lace-like appearance of thickened iliac crests are pathognomonic and distinctive of the syndrome. The diagnostic features of the disease are compared to those of Morguio's disease, spondyloepiphyseal dysplasia tarda, and spondylometaphyseal dysplasia.

Adolescent↗
PubMed1977

Bloom's syndrome. VI. The disorder in Israel and an estimation of the gene frequency in the Ashkenazim.

An effort was made to identify all individuals with Bloom's syndrome living in Israel between September 1971 and September 1972. Each of the eight individuals located were Jewish and could readily be classified Ashkenazic. The frequency of the Bloom's syndrome gene in Ashkenazim was estimated to be .0042 (minimum), implying a heterozygote frequency greater than 1 in 120. A striking distortion of the sex ratio (M/F = 7.0) may have been due to underascertainment of affected females. One of the affected individuals ascertained during the survey subsequently has died from cancer, which is in keeping with the recognized cancer proneness of this condition. Four of the affected have married, but no conception is known to have occurred, which suggests that sub- or infertility is a feature of the syndrome.

Adult↗
PubMed1976

Further observations on familial hypobetaliproteinaemia.

A family with hypobetalipoproteinaemia with 10 affected members is described. In six patients low density lipoprotein cholesterol (LDL-c) concentrations were about 10 % of normal. In four LDL-c was reduced to about 50 % of normal; these four patients probably represent the "intermediate" form of hypobetalipoproteinaemia. This variation in total cholesterol concentration and LDL-c among the affected individuals of the same family could reflect differences of expression in a single aberrant gene or additive expression of a gene at a second locus.

Abetalipoproteinemia↗
PubMed1976

Partial trisomy D: a diagnostic and cytogenetic dilemma.

An 18-month-old proposita with psychomotor retardation and other congenital abnormalities is presented. Chromosomal analysis of both parents proved normal. However, the karyotype of the proposita contained 47 chromosomes in both lymphocytes and cultured fibroblasts. The marker chromosome proved to be a deleted No. 14 or 15. Comparison of the reported cases of partial trisomy D indicates that a definitive clinical syndrome is not apparent in either case.

Chromosome Deletion↗
PubMed1976

Spondyloenchondrodysplasia. Enchondromatomosis with severe platyspondyly in two brothers.

Two brothers affected by enchondromatosis with marked involvement of the spine including platyspondyly were followed for 12 years. Both brothers were of short stature and normal intelligence. Vertebral involvement in multiple enchondromatosis is very rare. To our knowledge, marked generalized platyspondyly has not been described in the literature as part of this condition. At present, this form cannot be placed within any previously described category. A new term--spondyloenchondrodysplasia--is proposed for this condition which may either be a subform of multiple enchondromatosis or an entirely different and distinct entity.

Adolescent↗