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Biomedical subjects

M Higurashi

Publications and source records attributed to M Higurashi.

At least 55 records · Page 3Linked to original sources
PubMed1986

Growth, psychologic characteristics, and sleep-wakefulness cycle of children with sex chromosomal abnormalities.

This study of girls with Turner syndrome (16 cases) and boys with XXY (two cases) and XYY (eight cases) constitutions was designed to follow the longitudinal growth and to analyze the psychologic findings and the sleeping patterns in them. The growth curves of stature in Turner syndrome were below the 3rd percentile at all ages. The mean of SDS of height in cases less than 5 years old was -2.38, that in cases older than 6 years old -2.40. The shoulders in Turner syndrome have a tendency to broaden with time, in contrast to the development of the pelvis, which is not so good. The height of 47,XYY boys from infancy to 9 years of age was between the 10th and 90th percentiles, with one exception in which the height was above the 90th after 8 years of age. Relatively common psychologic findings in cases with Turner syndrome were as follows: low responsiveness to emotional stimuli, poor emotional expressions, passive and negative mental attitudes, low activity and low productivity, narrow and limited interests, passiveness and common sense adaptability, lower impulsiveness and aggressiveness, etc. The circadian oscillation was observed up to 3 years of age with shifting of the sleeping time to the night period. After that, day sleep gradually tends to decrease with age. Age variation in day and night sleep of an XXY boy was compared with that of a normal child. This showed the normal variation in circadian rhythms in early childhood, although the infant with this syndrome slept more, both day and night, than normal. In early childhood, no difference was noted. Similar studies were performed on a child with the chromosomal aberration XYY and revealed the sleep parameters to be quite normal in infancy and early childhood.

Adolescent↗
PubMed1985

Rett syndrome--an early catecholamine and indolamine deficient disorder?

The results of clinical and polysomnographical examinations on 11 Japanese Rett syndrome cases were summarized to substantiate further our previous results regarding the pathophysiology of the disease. It was concluded that the disease starts early in infancy and takes a progressive course. Each characteristic symptom appears in an orderly sequence which is thought to reflect the sequential systemic involvement of certain neuronal systems. Based on the characteristic symptoms and signs, and polysomnographical studies, we speculated that the initial lesion was the locus coeruleus with a hypoactive noradrenergic system combined with other hypoactive monoaminergic systems, including those of serotonin and dopamine, occurring along with the early developmental course. In later stages, hyperfunction possibly due to postsynaptic supersensitivity of the dopamine system causes the characteristic symptoms of the Rett syndrome.

5-Hydroxytryptophan↗
PubMed1984

Phosphorylation of H1 subtypes in regenerating rat liver.

H1 histone of rat liver consists of four molecular species designated as H1-1, -2, -3, -4. After partial hepatectomy, phosphorylation of H1-3 was induced first, occurring even within 15 h after the operation. By partial hepatectomy, the rate of incorporation of [3H]lysine into H1 histone increased an average of 4-5 times, but that into H1-4 increased 16-20 times. This actively synthesized H1-4 was subsequently degraded rapidly. Thus induction of this active turnover of H1-4 seems to be correlated with liver regeneration. The maximum activity for phosphorylation of H1-3 attained in regenerating liver was five times that in normal liver. By 36 h after the operation, the phosphorylated peak in the chromatographic pattern had moved forward to a position between the peaks of H1-2 and H1-3, named H1-3'. The newly synthesized H1-3 was not transferred appreciably to H1-3' within 30 h after the operation. At 48 h after the operation, H1-3' amounted to 40% of the total H1-3 subtype. The specificity of the phosphorylation reaction was examined in a reaction system consisting of isolated H1 histone and cAMP-dependent kinase. It was concluded that the specificity of the phosphorylation reaction in vivo was due mainly to the difference in structures of different H1 subtypes.

Animals↗
PubMed1984

Bleomycin-induced chromosomal aberrations and sister chromatid exchanges in Down lymphocyte cultures.

Peripheral blood lymphocytes from three patients with Down syndrome (DS; trisomy 21; aged 5-6 years) and three age-matched control children were studied for the induction of chromosomal aberrations and sister chromatid exchanges (SCEs). Cells in G0 were exposed to bleomycin (20-100 micrograms/ml) for 3 h, and then cultured in medium containing 5-bromodeoxyuridine and phytohemagglutinin for 66 h. By the sister chromatid differential staining method, chromosome analyses were performed on metaphase cells that had divided one, two, or three or more times after treatment. The results indicate that DS cells exposed to bleomycin are hypersensitive to the production of dicentric and ring chromosomes compared to normal cells. Bleomycin also led to a dose-related increase in the frequency of SCEs, but no difference was found between the SCE frequencies in DS or normal lymphocytes exposed to bleomycin.

Bleomycin↗
PubMed1982

An anthropometric study of girls with the Ullrich-Turner syndrome.

Anthropometric measurements were made on 11 Japanese girls with Ullrich-Turner syndrome (UTS) from 8 months to 14 years. Height, lower limb length, and upper limb length of the UTS patients was less than that of normal control girls. Conversely, chest circumference, transverse chest diameter, and chest depth of UTS girls was well developed and equal to that of the control girls. Measurement results of head (head circumference, head length, and head breadth) and face (bi-zygomatic breadth, internal bi-ocular breadth and morphological face height) of the UTS patients were similar to those of normal girls. Bi-acromial breadth and bi-iliac diameter in the UTS were normal.

Adolescent↗
PubMed1982

An anthropometric study of cases with Turner syndrome and XYY.

Turner syndrome (45,X karyotype) is one of the few sex chromosome aberrations that can be recognized clinically during infancy or childhood. The features are short stature, broad shield chest, lymphedema of feet and legs, and webbed neck. On the other hand, boys with 47,XYY karyotype cannot be diagnosed from the clinical manifestations. Although the clinical features in Turner syndrome have been the subject of many reports, there have been few anthropometric studies on patients with Turner syndrome during childhood, and there have been no such studies on 47,XYY boys. This study was designed to determine the anthropometric characteristics of 11 patients with Turner syndrome diagnosed at the University Hospital, University of Tokyo, and 7 patients with 47,XYY found in a newborn survey in one maternity hospital in Tokyo.

Adolescent↗
PubMed1981

Mortality and survival for Down syndrome in Japan.

Mortality and survival data for 1,052 Japanese patients with Down syndrome who were born between 1966 and 1975 were analyzed. The survival rate at age 10 was estimated to be about 86%. Mortality in each age group for Down syndrome was elevated over that of the general population. In the survival rate at age 10, there was no significant difference between males and females, but the difference between cases with and without congenital heart disease was highly significant. Using data from this study-for mortality up to age 10-and from the study of institutionalized cases for mortality over age 10, a hypothetical life table was constructed; it shows that the life expectancy at birth for cases with Down syndrome is nearly 50 years.

Adolescent↗
PubMed1980

The birth prevalence of malformation syndromes in Tokyo infants: a survey of 14,430 newborn infants.

A survey of the birth prevalence of congenital anomalies among newborn infants in Japan is under way at a large maternity hospital in Tokyo. Of 14,430 consecutive newborn babies (7,455 M; 6,975 F), 33 had a multiple congenital anomalies (MCA) syndrome. These included 2 with trisomy 13 (including a mosaic), 3 with trisomy 18 (including 1 mosaic), 16 with trisomy 21 (including 1 mosaic), 1 with cri-du-chat syndrome, 1 with 5p partial trisomy, 1 with Hallermann-Streiff syndrome, 1 with Treacher-Collins syndrome, 1 with achodroplasia, 2 with arthrogryposis multiplex congenita, 1 with hemihypertrophy, 1 with Wiedemann-Beckwith syndrome, 1 with asplenia syndrome, 1 with Klippel-Trenaunay-Weber syndrome, and 1 with probable Marfan's syndrome. Except for one infant with Ullrich-Turner syndrome, cases with sex-chromosome aberrations could not be diagnosed neonatally on a clinical basis.

Abnormalities, Multiple↗
PubMed1979

Chromosome survey of newborn infants in Tokyo: follow-up study for XYY.

In order to ascertain the frequency of chromosome aberrations among newborn infants in Japan, a chromosome survey of a large number of newborn infants is in progress. A series of 10,270 consecutive newborn babies, 5,341 male and 4,929 female, have been screened for clinical manifestations of autosomal aberrations and for sex-chromatin and sex-chromosome aberrations. Chromosome studies were carried out on 185 infants with suspected chromosome aberrations. Of these, 23 had abnormal karyotypes, including 2 males with a 47,XXY complement, 1 female with 45,X complement, 3 males with a 47,XYY complement, 2 with trisomy 13 syndrome, 3 with trisomy 18 (including one mosaicism), 10 with Down syndrome (including 1 mosaicism), 1 with B5p partial trisomy, and 1 with Y-D translocation. Developmental studies of four XYY children and one 45,X girl are in progress.

Chromosome Aberrations↗
PubMed1978

Incidence of 47,XYY karyotype in a consecutive series of newborn males in Tokyo.

A series of 3545 newborn males, born consecutively at a maternity hospital in the western suburbs of Tokyo and with no detectable physical abnormalities, were studied for fluorescent Y-chromatin. Buccal cell smears from each infant were screened. Cases with ambiguous results were subjected to a second test by blood smears, which were found to be more reliable. After the second test, chromosomal analysis was carried out in five infants: three had a 47,XYY karyotype; one, the karyotype 46,XY-D,t(D:Y) (Iijima et al., in preparation); and one, a normal male karyotype. The XYY karyotype occurred in 0.11% of newborn males in this series.

Cheek↗
PubMed1978

The transition in frequency of Y chromatin in males during the neonatal period.

The frequency of Y chromatin, visualized as fluorescent bodies in cell nuclei from lymphocytes in blood smears, was significantly less in newborn males than in three-month-old male infants and adults. The frequency of Y chromatin-positive cells on day 0 was 36.16 +/- 9.11% and then increased daily. At one month after birth the frequency was 55.07 +/- 9.29%, which was not significantly different from that in adult males (57.08 +/- 5.97%).

Adult↗
PubMed1978

Quinacrine and acridine-R banding without a fluorescence microscope.

A technique is described in which a standard fluorescence microscope equipped with a high-pressure mercury lamp is replaced with an ordinary laboratory microscope fitted with a quartz-iodine lamp. A dark field condenser and a set of three filters, including an FITC interference filter, complete a 'fluorescence' microscope. The microscope has proved itself satisfactory in the study of Y-chromatin, chromosome Q-bands including Q-polymorphism, and acridine-R band. It is very easy to operate and does not emit ultraviolet light, which might harm operators. Total cost of the quartz-iodine lamp's outfit, filters, and a dark-field condenser is much less than that of a standard fluorescence microscope. The cost is especially low when a laboratory microscope with a quartz-iodine lamp is already at hand. Spectrofluorometric studies of QM and Q indicate that the present system will show even better performance if an interference filter with a transmission range of about 400 to 440--450 nm is designed and used in combination with a 455--475 nm barrier filter.

Acridines↗