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Biomedical subjects

T Kajii

Publications and source records attributed to T Kajii.

At least 109 records · Page 6Linked to original sources
PubMed1985

46,X,i(Xq)/47,XX,+13 mosaicism.

A 10-year-old girl with short stature and other features of Turner's syndrome was found to be a mosaic consisting of 46,X,i(Xq) and 47,XX,+13 cell lines, a hitherto undescribed situation. She had none of the clinical features of trisomy 13 syndrome, with a possible exception of postaxial polydactyly of the left foot. Her PHA-stimulated blood lymphocytes and EB virus-transformed B lymphocytes both revealed the Xi(Xq)/XX,+13 mosaicism, while her skin fibroblasts showed an exclusively 46,X,i(Xq) karyotype. Studies using Q-and R-banding heteromorphisms as markers indicated that the patient started as a 13 trisomic zygote resulting from a maternal meiotic error, followed by the loss of chromosome 13 at an early mitotic division. C-banding analysis revealed two C banding blocks in the iso X chromosome, an indication that the chromosome was dicentric. BrdU-Hoechst-Giemsa analysis revealed that the iso X chromosome was late-replicating with both its arms either synchronously or asynchronously replicating. The iso X chromosome was thus designated as idic (Xq)(p11:p11). In view of the presence of the XX cell line, it was concluded that the patient started as an XX,+13 zygote, followed by two mitotic events, the loss of a chromosome 13 and the formation of the iso X chromosome, occurring either simultaneously or in succession.

Abnormalities, Multiple↗
PubMed1984

XY and XX complete moles: clinical and morphologic correlations.

The results of clinical, morphologic, and histologic analysis of nine XY complete moles (six karyotyped, three Y-chromatin positive) were compared with the results from analysis of 16 XX moles. Five of the nine XY moles were proved to result from dispermy while all the 16 XX moles studied originated from the doubling of a haploid sperm. At follow-up delayed decrease or rebound of urinary (or serum) human chorionic gonadotropin levels was noted in three of eight women with XY moles and in five of 15 women with XX moles. One woman with an XY mole was treated for lung metastasis, but her condition remained stable over a 4-year follow-up period. No appreciable difference was noted in the gross and microscopic findings between the XY and XX moles. On the other hand, differences were noted between younger (12 weeks or less of menstrual age) and older (13 weeks or more) moles. Younger moles had smaller, elliptic or club-shaped villi with numerous secondary villous sprouts, poorly demarcated central cisternae, and frequent mesenchymal capillaries. Older moles had larger, oval or globular villi with sparse villous sprouts, well-developed central cisternae, and less frequent remnants of capillaries. Trophoblastic hyperplasia was more marked in older than in younger moles.

Adolescent↗
PubMed1984

Ruvalcaba syndrome: autosomal dominant inheritance.

A kinship is described in which nine individuals in four generations were affected with the Ruvalcaba syndrome including postnatal growth retardation, an oval face with a high forehead, antimongoloid slant of palpebral fissures, small beaked nose with hypoplastic nasal alae, small downturned mouth with thin vermilion borders, pointed chin, and short fingers and toes. Less frequently seen were osteochondritis of the lumbar vertebral bodies, cone-shaped epiphyses of the phalanges, and narrow diaphyses of the metacarpals and metatarsals. None of the affected individuals was mentally retarded. The propositus, a 3-year-old boy, and his mother were typically affected, while his 8-month-old sister, the 55-year-old maternal grandfather, and his 46-year-old younger sister had several of these manifestations. Information on the remaining four affected relatives was incomplete. The syndrome was transmitted in a dominant fashion with variable expressivity. There were two instances of male-to-male transmission. This effectively ruled out X-linked inheritance. The transmission of the syndrome in three other reported pedigrees was also compatible with autosomal dominant inheritance with variable expressivity and incomplete penetrance.

Abnormalities, Multiple↗
PubMed1984

Two populations of immunoglobulin-forming cells in the skate, Raja kenojei: their distribution and characterization.

We recently reported the presence in the skate, Raja kenojei, of two immunoglobulins, a high molecular weight immunoglobulin analogous to mammalian IgM, and a low molecular weight immunoglobulin belonging to a hitherto undescribed class. In view of these findings, we studied lymphoid organs of the skate using morphological and immunocytochemical means. The spleen and the intestinal mucosa had numerous plasma cells and lymphocytes, while the Leydig organ of the esophagus, the epigonal organ and the liver contained these cells in a much lesser frequency. Immunocytochemical studies proved these plasma cells and some of the lymphocytes to be immunoglobulin-forming cells. Double immunofluorescence staining of the spleen and other lymphoid tissues demonstrated the occurrence at a 1: 1 ratio of two distinct populations of cells, one forming the high molecular weight immunoglobulin and the other producing the low molecular weight immunoglobulin.

Animals↗
PubMed1984

A second class of immunoglobulin other than IgM present in the serum of a cartilaginous fish, the skate, Raja kenojei: isolation and characterization.

A second class of immunoglobulin, in addition to a pentameric immunoglobulin analogous to mammalian IgM, was found in the serum of a cartilaginous fish, the skate, Raja kenojei. The immunoglobulin was a non-covalently associated dimer with a sedimentation coefficient of 8.9S and a mol. wt of 320,000. Its heavy chain had a mol. wt of 45,000-50,000, smaller than that of the heavy chain (mol. wt 70,000) of the skate IgM, and had its own specific antigenic determinants. The immunoglobulin was synthesized in plasma cells different from those that produced the IgM. These results provide evidence that, contrary to the prevailing view, the divergence of immunoglobulin class occurred as early in evolution as the cartilaginous fish, a primitive vertebrate.

Animals↗
PubMed1984

A Weaver-like syndrome in a Japanese boy.

A 5 1/2-year-old Japanese boy with a Weaver-like syndrome is reported. In addition to pre- and post-natal overgrowth, mental retardation, an unusual craniofacial appearance and other abnormalities characteristic of the Weaver syndrome, he had several clinical features not described in this syndrome. These unusual features included mongoloid slanting of the palpebral fissures, cleft lip, accessory nipples, pectus excavatum, a bifid xyphoid process, irregularly shaped vertebral bodies, inflexible right thumb, clinodactyly of the fifth fingers, abnormal dermatoglyphic patterns and deep plantar furrows. His carpal bone age corresponded to his chronological age, while the tubular bone age was accelerated.

Abnormalities, Multiple↗
PubMed1984

The origin of mosaic Down syndrome: four cases with chromosome markers.

Four children, a girl and three boys, with diploid/trisomic mosaic Down syndrome were studied for the mechanism of origin of mosaics, using Q- and R-banding heteromorphisms as markers. Three mosaic subjects started as a trisomic zygote followed by the loss of a chromosome 21 at an early mitotic division. Of these, one resulted from a maternal first-meiotic error, another resulted from a paternal first-meiotic event, and the third originated from a first-meiotic error in either parent. The remaining subject could have resulted from either a diploid or a trisomic zygote. These findings, together with a higher proportion of trisomic cells in skin fibroblasts than in peripheral blood lymphocytes in the two patients studied, suggest that the extra chromosome 21 in mosaic Down syndrome patients usually has a meiotic origin. At least two, possibly three, of the diploid cell lines in these mosaics consisted of "uniparental" chromosomes 21, namely, both the homologous members were derived from a parent.

Adult↗
PubMed1984

An abnormality of neutrophil adhesion: autosomal recessive inheritance associated with missing neutrophil glycoproteins.

A 3-month-old Japanese female infant, with persistent navel infection due to Pseudomonas aeruginosa since birth and recurrent bacterial skin infections, was found to have a severe abnormality of neutrophil adhesion on a surface, leading to a lack of chemotaxis and a mild impairment of phagocytosis. Neither neutrophil bactericidal activity nor nitroblue tetrazorium reduction was impaired. Sodium dodecyl sulfate polyacrylamide-gel electrophoresis of neutrophil membrane proteins from the patient disclosed the lack of two glycoproteins, one with a molecular weight (mol wt) of 110 K on the cell surface, and the other with mol wt of 115 K, possibly in intracellular membranes. The levels of the two glycoproteins were below normal in neutrophils from both parents, with the 110 K glycoprotein reduced to half the normal level. These findings indicate that the disease was inherited in an autosomal recessive fashion.

Blood Bactericidal Activity↗
PubMed1983

Familial clustering of situs inversus totalis, and asplenia and polysplenia syndromes.

We report on a family in which a male infant had the asplenia syndrome, a younger brother had the polysplenia syndrome, and their father had situs inversus totalis. The occurrence of the asplenia and the polysplenia syndromes in a sibship of the present family and in two other previously reported sibships indicates that the two syndromes are causally and pathogenetically related to each other. If it is assumed that the father had an incomplete form of the polysplenia complex, then the condition in this family either is an autosomal dominant trait or is multifactorially determined.

Adult↗
PubMed1982

Chromosome abnormalities involving 11p13 and low erythrocyte catalase activity.

Two unrelated patients with clinical features of 11p13 deletion syndrome, 3 years old and 3 months old, are reported. The clinical features of the patients included mental retardation, aniridia, nystagmus, blepharophimosis, and genitourinary abnormalities. Both patients were apparently free from Wilms' tumor and gonadoblastoma. Prometaphase banding analyses revealed a 46,XY,del(11)(p1300p1500) karyotype in one patient and 46,XX,dir ins(11;2)(p13;q12q23) in the other. Catalase activities in the erythrocytes in the two patients were respectively 65% and 56% of those of normal controls, close to the expected values in hemizygosity of the catalase gene. These findings confirmed a close linkage of the gene for catalase and those for the aniridia--Wilm's tumor or gonadoblastoma complex.

Catalase↗
PubMed1982

The dermatoglyphic pattern of the Kabuki make-up syndrome.

Dermatoglyphic analyses of 12 patients with the newly recognized Kabuki make-up syndrome revealed a combination of unusual dermatoglyphic patterns. They included frequent fingertip ulnar loop patterns (72%), the absence of digital triradius c or d (25%), an interdigital triradius bc or cd (33%), hypothenar loop patterns (67%), and ulnar loop patterns in the fourth interdigital area (17%). Other unusual findings included persistence of fingertip pads (58%), a single flexion crease of the fourth or fifth finger (25%), and an excess of minor flexion creases of the palm (92%).

Dermatoglyphics↗
PubMed1982

Trisomy 17p due to A t(5;17) (p15;p11) pat translocation.

A 6-month-old Japanese boy with trisomy 17p, resulting from a paternal balanced translocation t(5;17)(p15;p11), is described. Comparison of his clinical features with those of two previously reported patients with trisomy 17p revealed a characteristic combination of clinical features. They included intra- and extra-uterine growth retardation, developmental retardation, microcephaly, internal hydrocephalus, a facies with lateral displacement of the inner canthi, antimongoloid slanting of the palpebral fissures, a broad nasal bridge, and micrognathism, low-set, large and simple ears, a short and webbed neck, and flexion deformities of the fingers. The external genitalia in the two male patients were characterized by a small penis, undescended testes and a hypoplastic scrotum. Congenital cardiac defect was present in two of the three patients.

Abnormalities, Multiple↗