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Biomedical subjects

T Kajii

Publications and source records attributed to T Kajii.

At least 73 records · Page 4Linked to original sources
PubMed1989

Incontinentia pigmenti and X-autosome translocations. Non-isotopic in situ hybridization with an X-centromere-specific probe (pSV2X5) reveals a possible X-centromeric breakpoint in one of five published cases.

Incontinentia pigmenti (IP) is a rare X-linked disease with marked female-to-female transmission and a dominant pattern of inheritance. Reports of six unrelated females with IP and X-autosomal translocations, all with the X breakpoint at Xp11, and an additional report of a female with IP and a 45,X/46,X,r(X) karyotype suggests that this may be the locus for the IP gene. When four of these cases, including the r(X), were re-examined with a non-isotopic in situ hybridization technique and an X centromere-specific probe (pSV2X5), the Xp11 breakpoint was confirmed. However, results from a fifth reported case, t(X;17), showed that the X breakpoint was within the centromeric alphoid repetitive sequences recognized by the probe pSV2X5. As the clinical presentation of this patient was consistent with the IP phenotype and diagnosis, the centromeric position of the X-chromosome breakpoint raises several questions with respect to the homogeneity of the Xp11 locus for IP.

Centromere↗
PubMed1989

Radiographic measurements of metacarpophalangeal lengths in Japanese children.

The lengths of 19 tubular bones of the hand were measured on radiographs of 1,585 Japanese children aged 0 to 17 years. The means and standard deviations related to age and sex were calculated and presented in tables. Using the standards, examples of the metacarpophalangeal pattern profile analysis are presented.

Adolescent↗
PubMed1989

Detection of human immunodeficiency virus (HIV) in cultures of lymphocytes from HIV-seropositive persons with special reference to an enzyme immunoassay.

Three different assay systems for monitoring the production of human immunodeficiency virus (HIV) in infected cells were compared. These were (1) a reverse transcriptase assay (RTA), (2) an indirect immunofluorescence assay (IFA), and (3) an enzyme immunoassay (EIA) for detecting HIV antigen in vitro. MOLT-4 subclone 1 cells were infected with serial dilutions of the HTLV-IIIB strain of HIV. Six days after infection, production of HIV was examined by the three methods. EIA was most sensitive showing 64-fold higher sensitivity than RTA, which in turn was fourfold more sensitive than IFA. We applied EIA for detecting HIV in the lymphocyte cultures derived from 18 HIV-seropositive persons. By means of the three systems HIV was isolated from lymphocyte cultures derived from one of nine (11%) asymptomatic persons and from five of nine (56%) symptomatic patients. Interestingly, it was noticed that four samples of lymphocytes did not allow the isolation of HIV but gave positive results by EIA only. Thus, the detection rate of HIV was increased by the application of EIA, to three of nine (33%) persons in the asymptomatic group and to seven of nine (78%) patients in the symptomatic group. Possible use of this assay system for following the development of acquired immunodeficiency syndrome is discussed.

Cells, Cultured↗
PubMed1988

Kabuki make-up (Niikawa-Kuroki) syndrome: a study of 62 patients.

These 62 patients with the Kabuki make-up syndrome (KMS) were collected in a collaborative study among 33 institutions and analyzed clinically, cytogenetically, and epidemiologically to delineate the phenotypic spectrum of KMS and to learn about its cause. Among various manifestations observed, most patients had the following five cardinal manifestations: 1) a peculiar face (100%) characterized by eversion of the lower lateral eyelid; arched eyebrows, with sparse or dispersed lateral one-third; a depressed nasal tip; and prominent ears; 2) skeletal anomalies (92%), including brachydactyly V and a deformed spinal column, with or without sagittal cleft vertebrae; 3) dermatoglyphic abnormalities (93%), including increased digital ulnar loop and hypothenar loop patterns, absence of the digital triradius c and/or d, and presence of fingertip pads; 4) mild to moderate mental retardation (92%); and 5) postnatal growth deficiency (83%). Thus the core of the phenotypic spectrum of KMS is rather narrow and clearly defined. Many other inconsistent anomalies were observed. Important among them were early breast development in infant girls (23%), and congenital heart defects (31%), such as a single ventricle with a common atrium, ventricular septal defect, atrial septal defect, tetralogy of Fallot, coarctation of aorta, patent ductus arteriosus, aneurysm of aorta, transposition of great vessels, and right bundle branch block. Of the 62 KMS patients, 58 were Japanese, an indication that the syndrome is fairly common in Japan. It was estimated that its prevalence in Japanese newborn infants is 1/32,000. All the KMS cases in this study were sporadic, the sex ratio was even, there was no correlation with birth order, the consanguinity rate among the parents was not high, and no incriminated agent was found that was taken by the mothers during early pregnancy. Three of the 62 patients had a Y chromosome abnormality involving a possible common breakpoint (Yp11.2). This could indicate another possibility, i.e., that the KMS gene is on Yp11.2 and that the disease is pseudoautosomal dominant. These findings are compatible with an autosomal dominant disorder in which every patient represents a fresh mutation. The mutation rate was calculated at 15.6 X 10(6).

Abnormalities, Multiple↗
PubMed1988

A disease with features of cutis laxa and Ehlers-Danlos syndrome. Report of a mother and daughter.

A mother and daughter are described with light and electron microscopic, and biochemical abnormalities of their connective tissue characteristic of both cutis laxa and the Ehlers-Danlos syndrome. The mother was clinically normal, while her 8-year-old daughter exhibited loose, wrinkled skin and other clinical features of cutis laxa, and also fragility, bruisability and hyper-extensibility of the skin and poor healing of wounds, leaving "cigarette paper" scars, features characteristic of the Ehlers-Danlos syndrome. Light and electron microscopic studies of skin biopsy specimens and cultured skin fibroblasts from both individuals revealed reduced and distorted elastic fibres, a finding usually seen in cutis laxa. Electrophoretic studies of collagen excreted from cultured skin fibroblasts revealed in both individuals an alpha 2(I) chain with a molecular size smaller than usual. The father and elder daughter were normal by clinical, light and electron microscopic and electrophoretic studies. It was concluded from these findings that the mother and daughter represented a hitherto undescribed disease of the connective tissue with dominant inheritance and variable expressivity.

Adult↗
PubMed1987

Congenital heart defects in Sotos sequence.

Of 10 patients with typical Sotos sequence, 5 had various congenital heart defects. They included 2 patients with secundum atrial septal defect, and one patient each with patent ductus arteriosus with mitral valve regurgitation, tricuspid atresia plus pulmonary atresia, and ventricular septal defect. Increases of head circumference and weight gain were less accelerated in the patients with congenital heart defects than in those without heart defects, while growth in length was comparable between the 2 groups. In view of these findings, it is suggested that the rate of congenital heart defects in patients with Sotos sequence is much higher than that reported in the literature.

Anthropometry↗
PubMed1987

Synergistic effect of aphidicolin and ethanol on the induction of common fragile sites.

The effect of ethanol on the frequency of aphidicolin-induced common fragile sites was studied using lymphocyte cultures from two normal women. Aphidicolin was added to the cultures at a final concentration of 0.2 microM and ethanol at 0.02%, 0.1%, 0.2%, 0.5%, and 1%, both during the last 26 h of culture. The frequency of common fragile sites increased from 296% in subject 1 and 201% in subject 2 with aphidicolin plus 0.02% ethanol, to 765% and 823%, respectively, with aphidicolin plus 1% ethanol. Ethanol alone added to cultures did not induce common fragile sites. The gaps and breaks induced by aphidicolin plus ethanol were highly nonrandom. Altogether, 35 common fragile sites were identified. The addition of 1% ethanol to aphidicolin increased both random and nonrandom gaps and breaks as compared with that of 0.02% ethanol. Dimethyl sulfoxide added to culture at final concentrations of 0.02% to 1% did not change the frequency of aphidicolin-induced fragile sites. The frequency of fluorodeoxyuridine-induced fragile sites was not affected by the addition of 0.02% to 1% ethanol. It was thus concluded that ethanol enhances the aphidicolin-induced fragile sites, possibly inhibiting the repair mechanism of gaps and breaks induced by aphidicolin.

Adult↗
PubMed1987

Transmission and genetic shift of human immunodeficiency virus (HIV) in vivo.

HIVYU-6 and HIVYU-7 were isolated from an acquired immune deficiency syndrome patient (MK) and his asymptomatic sexual partner (MM), respectively. YU-6 readily infected not only peripheral lymphocytes from normal individuals but also human T-cell lines such as H9, HUT-78, MOLT-4 and MT-4; YU-7, on the other hand, could not infect H9 and MT-4 cells. Furthermore, although autologous serum failed to neutralize YU-6, it was neutralized by the heterologous serum from the partner. Restriction endonuclease analysis of YU-6 demonstrated that it was a mixture of viruses. We have isolated two clones from YU-6 (YU-6-a and YU-6-b) by a plaque assay method and showed that YU-6-a had one more KpnI site than YU-6-b. It was also evident that YU-7 derived from YU-6-a, but had already shifted genetically from YU-6-a. Transmission of human immunodeficiency virus through heterosexual contact and a possible genetic shift of YU-6-a, b and YU-7 from a common progenitor virus in vivo is discussed.

Acquired Immunodeficiency Syndrome↗
PubMed1986

Jacalin, a jackfruit lectin, precipitates IgA1 but not IgA2 subclass on gel diffusion reaction.

Precipitation reaction in agarose gel between jacalin, a lectin from jackfruit seeds, and purified immunoglobulins of various classes and their components was studied. Single precipitation arcs were observed with monomeric and dimeric IgA1 subclass as well as secretory IgA1, but not with IgA2 of both allotypes, IgG, IgM, IgD, IgE, free secretory component or with the J chain. Thus, jacalin can be used for differentiating IgA1 from IgA2 subclass by a simple agarose gel diffusion.

Chemical Precipitation↗
PubMed1986

The Wiedemann-Beckwith syndrome: pedigree studies on five families with evidence for autosomal dominant inheritance with variable expressivity.

We describe 18 individuals from five unrelated families with various manifestations of the Wiedemann-Beckwith syndrome. Pedigree analysis was performed on the 5 families and on another 19 families in the literature, each of which included more than one affected person. The following findings were obtained: 1) the clinical manifestations among the affected individuals were highly variable--those obvious in infancy tended to become less distinct with increasing age; 2) the syndrome was transmitted directly and vertically through three generations in four families, and through two generations in seven families; 3) male-to-male transmission was noted once; 4) the sex ratio in the affected individuals was not significantly different from 1; 5) the segregation ratio of the trait among the sibs of the probands was 0.571 +/- 0.066; 6) the affected + carrier/normal ratio was one among the offspring of the affected individuals and obligate carriers; 7) phenotrance (the expected presence of the trait in a generation) of the syndrome in the sibship of probands was complete, whereas that in earlier generations appeared low. The discrepancy is attributable to the lessening of the clinical features with increasing age as well as to a possibly less aggressive search for abnormalities in older generations. These findings indicate that the syndrome is an autosomal dominant trait with variable expressivity. High-resolution chromosome banding analysis in seven affected individuals and their respective parents showed no abnormalities.

Adult↗
PubMed1986

Ataxia telangiectasia with generalized skin pigmentation and early death.

A female infant with clinical and laboratory features of ataxia telangiectasia (AT) showed two clinical features exceptional for the disease, i.e. generalized skin pigmentation and an unusually early death at the age of 15 months. Her clinical features supportive of the diagnosis of AT included growth and developmental retardation and muscle weakness. Findings indicating immunodeficiency included recurrent pulmonary infections, failure of PHA stimulation of PB lymphocytes, decreased levels of serum IgM and IgA and on autopsy, an atrophic thymus without Hassall's corpuscles. Her cultured skin fibroblasts showed increased spontaneous chromosome breakages and hypersensitivity to X-ray irradiation, as would be expected for AT fibroblasts. She showed elevated blood HbF levels, macrocytic anaemia, granulocytopenia and thrombocytopenia, findings suggestive of a preleukaemic or leukaemic process. Yet aspirates of her bone marrow revealed no malignant cells. Autopsy revealed bilateral Pneumocystis carinii pneumonia, telangiectatic lesions in all the internal organs studied, sparse and degenerative Purkinje cells in the cerebellar cortex and atrophic ovaries. In view of these findings, it was concluded that the patient had a hitherto undescribed variant of ataxia telangiectasia.

Ataxia Telangiectasia↗