[Genetic diagnosis in haemophiliacs (haemophilia A, B, carrier)].
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Biomedical subjects
Publications and source records attributed to S Mikami.
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Accurate first-trimester prenatal diagnosis was achieved in a Japanese haemophilia A family by the use of a restriction fragment length polymorphism (RFLP) located within the F.VIII gene. Since the pregnant woman's heterozygosity for BclI polymorphism in F.VIII/intron 18 (F8A) probe was informative, chorionic villus sampling (CVS) was performed at 9 weeks of gestation. Restriction analysis showed that the fetus was heterozygous for the BclI site and had received a normal paternal X chromosome (0.9 kb) and a normal maternal X (1.2 kb). Therefore, we concluded that the fetus was a non-carrier female. Pregnancy went to term and woman gave birth to an apparently healthy female. At one week after birth a coagulation study confirmed that the newborn infant is not a carrier. The first-trimester prenatal diagnosis of haemophilia A is possible by CVS due to a RFLP in the F.VIII gene.
The effects of vitamin A deficiency on the pituitary-gonadal function were examined by measurements of serum and pituitary level of pituitary hormones and serum testosterone concentration, and by investigations of histological changes in the testis and the pituitary gland in vitamin A-deficient (VAD) and supplemented (VAS) rats. The growth of VAD rats was retarded and their body weights were decreased after 9 weeks of experiments and attained about one half of the weight of control animals at 12 weeks. In the VAD rats, serum testosterone concentrations were decreased significantly compared with those in the VAS controls. Serum and pituitary concentrations of GH were significantly lower but those of LH were slightly lower in the VAD rats than those in the controls, while the serum FSH concentration was significantly higher than that in the control rats. The seminiferous tubules in the testes of VAD rats were comprised largely of Sertoli cells and a reduced number of spermatogonia and contained fibrous formation in their lumen. In the pituitary gland, GH cells were significantly reduced in number in the VAD rats, but gonadotropic (GTH) cells were increased remarkably in size and number, showing hypertrophy and vacuolation similar to those in castration cells. The cytological changes in the pituitary gland and the increased discharge of FSH represent a secondary and compensatory change similar to that seen following castration and vitamin E deficiency.
Six cell types of the pars distalis were studied from perinatal to senile stage in the golden hamster in combination with morphometric analysis and immunocytochemistry. GH cells occupied only a small area at 15 days of gestation and increased remarkably after birth to occupy a significantly larger area in the young adult than that in the other stages. PRL cells first appeared at 3 days after birth and increased rapidly thereafter to be distributed throughout the pars distalis. They always occupied a larger area in females than in males from 3 weeks after birth onward. ACTH cells were distributed mainly in the peripheral region of the pars distalis. They were dominant at 15 days of gestation, but relatively decreased after birth. The gonadotrophic cells were divided into LH cells and FSH cells. About 70% of LH cells were also immunoreactive to anti-FSH serum. LH cells occupied a larger area than that of FSH cells in every stage examined. TSH cells occupied the second largest area at 15 days of gestation, but rapidly decreased at 3 weeks after birth to occupy the smallest area among the immunoreactive cell types throughout the life-span. The chronological changes in the percentages of all cell types constituting the pars distalis seemed to reflect the activity of these cell types at a given stage.
The cross-sectional association of blood pressure with urinary sodium and potassium excretion was investigated with a stepwise regression analysis. Spot urine of 7441 females between 40 and 69 years was collected from 169 municipalities (88 urban and 81 rural) covering all prefectures in Japan. The filter paper sampling technique for urine was used to collect samples of subjects from March to December in 1985. Spot urine samples were analyzed for sodium, potassium and creatinine. In addition, 24-hr sodium and potassium excretions were estimated by predictive equations. Blood pressure, sodium excretion and sodium potassium ratios were higher in rural areas than in urban areas. Consistent positive correlations between urinary sodium and blood pressure, and negative correlations between urinary potassium and blood pressure were observed in the whole country of Japan, in both urban and rural areas, and also in separate observations of twelve regions in Japan with some exceptions. When compared in standardized partial regression coefficients, relative effects of potassium on systolic blood pressure were higher than those of sodium in the whole of Japan, in urban and rural areas, and in five among the twelve regions. The present Japanese study confirmed a positive within-population relationship between sodium excretion and blood pressure and a negative relationship between potassium excretion and blood pressure.
We have experienced epithelial dysplasia and invasive carcinoma of oral cavity, showing punctation and mosaic like atypical vessels confirmed by usual photographing. Case 1: 42-year-old man. After resection of tongue leukoplakia, the punctation appeared in the distal region of resected wound. Pathological findings were epithelial dysplasia, and expansion of capillaries in the stromal papillae were close to the surface. Case 2: 55-year-old woman. Punctation and mosaic like atypical vessels were recognized in the buccal mucosa, extending from the gingival carcinoma. Pathological findings were epithelial dysplasia and carcinoma in situ in punctation, and early invasive carcinoma in mosaic. There were irregularly expanded capillaries in the stromal papillae being close to the surface at both mosaic and punctation area. Although punctation, atypical vessels and mosaic are the colposcopic findings of uterine cervical cancer, these findings may become diagnostic point of early oral cancer.
The localization of LHRH-containing perikarya and nerve fibers in the hypothalami of the domestic fowl and Japanese quail was investigated by means of the specific immunoperoxidase ABC method, using antisera against chicken LHRH-I ([Gln8]-LHRH), chicken GnRH-II ([His5-Trp7-Tyr8]-LHRH[2-10]) and mammalian LHRH ([Arg8]-LHRH). Chicken LHRH-I-immunoreactive perikarya were sparsely scattered in the nucleus preopticus periventricularis (POP), nucleus filiformis (FIL) and nucleus septalis medialis (SM), and in bilateral bands extending from these nuclei into the septal area in both species. A few reactive perikarya were also observed in the nucleus accumbens (Ac) and lobus parolfactorius (LPO). Numerous cLHRH-I-immunoreactive fibers were widely scattered in the preoptic, septal and tuberal areas, and were densely concentrated in the external layer of the median eminence and in organum vasculosum of the lamina terminalis (OVLT) in both species. Anti-mammalian LHRH serum cross-reacted weakly with perikarya and fibers immunoreactive to anti-cLHRH-I serum in normal chicken and quail. Anti-cGnRH-II[2-10] serum immunoreacted with magnocellular neurons distributed in the rostral end of the mesencephalon along the midline close to the nervus oculomotorius (N III). These perikarya were apparently different from cLHRH-I immunoreactive neurons. No immunoreactive cells and fibers against anti-cGnRH-II[2-10] were observed in the hypothalamus and median eminence of the chicken or quail. Anti-cGnRH-II[2-10] bound specifically with cGnRH-II.(ABSTRACT TRUNCATED AT 250 WORDS)
Immunocytochemical studies were performed to describe the characteristics of cell types and their distribution in the pars distalis of Japanese long-fingered bat, Miniopterus schreibersii fuliginosus, collected at various stages of the reproductive cycle. Six distinct cell types have been identified in the pars distalis by the unlabeled immunoperoxidase technique and by the ABC method. Growth hormone (GH) and prolactin (PRL) cells were immunostained with antisera against chicken GH and ovine PRL. The GH-immunoreactive cells were round or oval orangeophilic cells distributed throughout the pars distalis with prominent aggregation in the posterolateral region. The PRL cells were pleomorphic carminophilic cells that occurred in small groups within the central and dorsocaudal regions of the pars distalis. They were sparsely distributed in the central region of the pars distalis in the hibernating bats, but increased significantly in the pregnant and lactating bats. The adrenocorticotropic (ACTH) cells were large round or polygonal amphophilic cells in the rostroventral and ventrolateral regions of the pars distalis. The thyrotropic (TSH) cells were small rounded or polygonal and distributed mainly in the ventrolateral region of the pars distalis. Luteinizing hormone (LH) and follicle-stimulating hormone (FSH) cells were identified immunocytochemically with antisera against the specific beta subunits of ovine LH and rat FSH. There were two populations of LH and FSH cells, one aggregated in the zona tuberalis and the other scattered singly throughout the rest of the pars distalis. The aggregated cells were immunoreactive with both antisera directed to LH and FSH, while scattered cells were reactive solely with antiserum to either LH beta or FSH and exhibited seasonal variations.(ABSTRACT TRUNCATED AT 250 WORDS)
Methionine-enkephalin (Met-enk) was detected by immunocytochemistry and radioimmunoassay in the caudal neuro-secretory system of the carp Cyprinus carpio. Some cells showing urotensin I (UI)-immunoreactivity reacted to Met-enk antiserum, but others did not. Neurons with urotensin II (UII)-immunoreactivity did not react to Met-enk antiserum; neurons with both UI and UII immunoreactivities also displayed a negative Met-enk reaction. Met-enk was detected by radioimmunoassay in the urophysis, although the content was relatively small compared with that found in other parts of the central nervous system and in the pituitary.
Throughout Japan a total of 543 cases of vitamin K deficiency occurring in infants over 2 weeks of age were reported from January 1981 to June 1985. Of these cases, 427 showed no obvious reasons for vitamin K deficiency; this sort of case is known as "idiopathic vitamin K deficiency in infancy". Another 57 cases had bleeding episodes due to vitamin K deficiency associated with obvious hepatobiliary lesions, chronic diarrhoea, long-term antibiotic therapy, etc; this sort is called "secondary vitamin K deficiency in infancy". The third group, consisting of 59 cases, was made up of the so-called "near miss" type, in which a haemorrhagic tendency, without any obvious clinical haemorrhage, was discovered by Normotest, at the time of mass screening in most cases. In the idiopathic group, 269 cases (63.0%) developed bleeding episodes between the 1st and 2nd months of age, and 387 cases (90.0%) were entirely breast-fed. Intracranial haemorrhage was observed in 353 cases (82.7%) of this group. Moreover, slight elevation of serum transaminase and direct type bilirubin levels were observed in the idiopathic group. Liver dysfunction of unknown origin may play some role in the onset of vitamin K deficiency in infancy.
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