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Biomedical subjects

K Ohba

Publications and source records attributed to K Ohba.

At least 127 records · Page 7Linked to original sources

Partial monosomy 5p and partial trisomy 5q due to paternal pericentric inversion 5(p15.1q35.1).

A male infant with karyotype 46,XY,rec(5),dup q,inv(5)(p15.1 q35.1)pat is presented. The proband showed growth and developmental retardation, complex cardiovascular abnormalities, inguinal hernia and microcephaly in addition to facial appearance and cat-like cry characteristic of the cri-du-chat syndrome. Growth and developmental retardation, and microcephaly noted in this patient were markedly more serious than those observed in patients either with partial monosomy 5p or with partial trisomy 5q alone.

Abnormalities, Multiple↗

Association of congenital heart disease, blepharoptosis, and short stature.

We found 12 patients with congenital heart disease of unknown etiology complicated with blepharoptosis during a period from Sept. 1, 1981 to April 30, 1989. All the patients with congenital heart disease were acyanotic, including 10 with short stature. Among these 10, abnormalities of high frequency were intrauterine growth retardation (5 cases), mental retardation (5), microcephaly (3), epicanthus (4), high arched palate (4), sacral dimple (4), and distal axial triradius (3). It is postulated that the association of congenital heart disease, blepharoptosis and short stature might indicate pathogenetic relationships.

Blepharoptosis↗

Acromesomelic dysplasia in a father and son: autosomal dominant inheritance.

A father and son with typical acromesomelic dysplasia are reported, with the father more severely affected than the son. The disease was thus apparently transmitted in an autosomal dominant fashion. This is at variance with the autosomal recessive mode of inheritance assumed from hitherto reported families.

Adult↗

Sibs lacking characteristic features of duplication of distal 17q.

Two brothers with karyotype 46,XY,-16,+der(16),t(16;17)(q24.3;q25.1)pat are presented. It is commonly thought that duplication of distal 17q results in a clinically recognisable syndrome. Although our cases had several features often seen in patients with autosomal chromosome aberrations, they did not have any of the specific features found in other patients with this duplication.

Abnormalities, Multiple↗

A new recognisable syndrome in three sibs with congenital heart disease, round face with depressed nasal bridge, short stature, and developmental retardation.

We report three sibs with congenital heart disease, round face with depressed nasal bridge, small mouth, short stature, developmental retardation, relatively dark skin, and high axial triradius. The chromosomes of the three patients were normal and the parents were unrelated, healthy, and of normal intelligence. The mother denied infections, drinking, drug intake, or exposure to known teratogenic agents during each pregnancy.

Abnormalities, Multiple↗

New peptide antibiotics LI-F03, F04, F05, F07, and F08, produced by Bacillus polymyxa. I. Isolation and characterization.

A strain of Bacillus polymyxa produced a new peptide antibiotic complex, named LI-F, composed of more than ten components. The components, antibiotics LI-F03, F04, F05, F07, and F08 were isolated from the complex by reversed phase HPLC. They are active against fungi, yeasts, and Gram-positive bacteria. The fast atom bombardment mass spectra revealed that the individual isolated antibiotics are still mixture of two homologous components, being very difficult to separate from each other.

Animals↗

Cadmium-binding proteins of three marine molluscs and characterization of two cadmium-binding glycoproteins from the hepatopancreas of a whelk, Buccinum tenuissimum.

The cadmium-binding proteins were shown to exist in the hepatopancreas of three molluscs, a whelk, Buccinum tenuissimum, a turbo, Batillus cornutus, and a squid, Todarodes pacificus. Cadmium was efficiently accumulated in nature to a mean concentration of 119, 33, and 50 micrograms/g wet tissue in the hepatopancreas of three species of molluscs, and 30%, 11%, and 43% of the element in each tissue of whelk, turbo, and squid was extracted to the soluble fraction, respectively. Separation of the soluble fraction by Sephadex G-75 in the presence of 2-mercaptoethanol revealed that cadmium was mainly bound to the protein fraction FII of molecular weight 10,000. Two cytoplasmic cadmium-binding glycoproteins from the hepatopancreas of Buccinum tenuissimum were purified to homogeneity by Sephadex G-75 gel filtration and double DEAE-Sephadex A-25 chromatographies in the presence of 2-mercaptoethanol. These two cadmium-binding glycoproteins, termed FIIA and FIIB, had molecular weights of 8000 and 13,000 and consisted of 52 and 94 amino acid residues, respectively. Three and two cysteine residues in FIIA and FIIB, respectively, were found and two more half-cystine were also detected in FIIB. The sugar contents of FIIA and FIIB were about 20.5% and 8.7% by weight, respectively, consisting of galactose, mannose, fucose, and amino sugar. Both showed strong metal-binding ability, especially for cadmium, copper, and mercury.

Animals↗