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Biomedical subjects

T Miike

Publications and source records attributed to T Miike.

At least 73 records · Page 4Linked to original sources
PubMed1991

Vascular alterations in Fukuyama type congenital muscular dystrophy.

Blood vessels in muscle biopsy specimens from 6 Fukuyama type congenital muscular dystrophy (FCMD) patients were examined by electron microscopy and compared with ones in non-diagnostic biopsy specimens from age-matched controls and patients with childhood neuromuscular disorders. The most striking feature was the blister-like swelling of vascular endothelial cells in the biopsied muscle specimens from 5 of the 6 patients with FCMD. Morphometric analysis of capillaries in biopsied muscles showed the extremely greater capillary, endothelial and pericyte areas in the FCMD patients than in controls. These phenomena are quite similar to those found in Duchenne muscular dystrophy (DMD) at the preclinical stage and suggest an as yet undetermined process in blood vessels in FCMD as well as DMD. An immunohistochemical study involving dystrophin antibodies showed positive staining in FCMD.

Capillaries↗
PubMed1991

Dystrophin in control and mdx retina.

To determine whether or not dystrophin really exists in the outer plexiform layer (OPL) of the retina, we studied control and mdx mice, using four kinds of polyclonal antibodies (DMDP-II, 60 kd, 30 kd and DMDP-IV) against dystrophin. Although control OPL showed a positive immunohistochemical reaction with all four antibodies, mdx OPL showed a positive reaction with DMDP-II and DMDP-IV, a negative reaction with 60 kd and 30 kd antibodies. Immunoblot analysis showed the positive band compatible with the immunohistochemical reaction.

Animals↗
PubMed1991

Serum levels of soluble IL-2 receptor, IL-4 and IgE-binding factors in childhood allergic diseases.

The serum levels of soluble IL-2 receptor (sIL-2R), IL-4 and IgE-binding factors were examined in children with allergic diseases, and compared with those in non-allergic controls of the same age and sex. The results showed age-related decreases in the serum levels of sIL-2R and IgE-binding factors, but not in that of IL-4 in both allergic and non-allergic individuals. Significant elevation of sIL-2R was observed in sera from children with atopic eczema or history of an anaphylactic reaction to food, as compared with that in non-allergic controls. The serum concentration of IL-4 was elevated in all allergic groups, including cases of atopic eczema, bronchial asthma and anaphylaxis to food, compared with non-allergic controls, and was correlated significantly with the serum level of IgE (r = 0.59). The IgE-binding factor levels in sera from patients aged 6-10 years with bronchial asthma, or patients aged 1-5 years with a history of food anaphylaxis were elevated as compared with those in non-allergic controls of same age. There was no significant correlation between the serum levels of IgE-binding factors and IgE. Since sIL-2R is released by activated T cells, the present study is in favour of T cell activation causing allergic skin disorders. The serum levels of IL-4 as well as IgE did not differ among allergic patients of different clinical categories. The role of IgE in atopic eczema and other allergic diseases is not clearly established; however, it seems likely that IL-4 is deeply involved in the increased production of IgE seen in allergic individuals. The possible involvement of IgE-binding factors in the age-related changes of clinical manifestations in childhood allergic diseases was also discussed.

Adolescent↗
PubMed1990

Infantile osteopetrosis complicating neuronal ceroid lipofuscinosis.

An autopsy case of infantile osteopetrosis complicating neuronal ceroid-lipofuscinosis is reported. Autopsy revealed generalized sclerosis and thickening of cortical and spongy bones, formation of mineralized cartilagenous tissues, and narrowing of the marrow cavities associated with decreased hematopoietic cell components. Around the thickened bone trabecles, osteoclasts lacked a ruffled border and clear zone along the cell membrane facing the bone matrix surface. The brain was markedly atrophic with neuronal cell loss and focal gliosis, and the remaining neuronal cells accumulated brown granular pigments, which were confirmed histochemically and electron-microscopically to be ceroid and lipofuscin. In the cerebral medulla, the development of myelin sheaths was extremely poor. Also, the occurrence of Lex type glycolipids and GM3 and the apparent absence of cerebroside and cerebroside sulfate were proved by biochemical analysis, suggesting that the brain was still in a stage of embryonic development or still in the process of differentiation. Except for one suggestive case, this is the first case of complicating neuronal ceroid-lipofuscinosis in infantile osteopetrosis.

Atrophy↗
PubMed1990

Decreased serum levels of IgE and IgE-binding factors in individuals infected with HTLV-I.

The cell surface expression of low-affinity Fc epsilon receptor (Fc epsilon RII), which is identical to CD23, and the serum levels of IgE binding factors (IgE BFs), a soluble form of Fc epsilon RII, and IgE were investigated in HTLV-I-infected individuals, and the results were compared with those for HTLV-I-negative controls. The occurrence of Fc epsilon RII+ mononuclear cells did not differ among the blood samples from the HTLV-I-infected groups; however, the levels of serum IgE BFs were significantly decreased (P less than 0.001) in patients with adult T cell leukaemia (ATL), compared with HTLV-I-negative controls. The serum IgE levels were also significantly decreased in these groups, including cases of ATL (P less than 0.001) and HTLV-I-associated myelopathy (P less than 0.05), and HTLV-I carriers (P less than 0.05), as compared with HTLV-I-negative controls. Since cases of strongyloidiasis or filariasis are frequently found among HTLV-I-infected individuals in Japan, these results may explain in part their defective defence mechanisms for parasites. The possible involvement of IgE BFs in the development of immune deficiency state in HTLV-I infection is also discussed.

Adult↗
PubMed1990

[123I-IMP single photon emission computed tomography (SPECT) study in childhood epilepsy].

N-isopropyl-p[123I]-iodoamphetamine (IMP) single photon emission computed tomography (SPECT), X-ray computed tomography (X-CT) and magnetic resonance imaging (MRI) were performed in 18 children with idiopathic seizures. In children with idiopathic seizures SPECT identified abnormal lesions in the highest rate (50%) compared with X-CT (11%) and MRI (13%), but the findings of SPECT poorly correlated with the foci on electroencephalography (EEG). Idiopathic epilepsy with abnormal uptake on SPECT was refractory to medical treatments and frequently associated with mental and/or developmental retardation. Perfusion defects identified on SPECT probably influenced the development of the brains in children. IMP SPECT is useful in the diagnosis and medical treatment in children with seizures.

Adolescent↗
PubMed1990

[Two siblings with interstitial deletion of chromosome 14 [46 XX, del (14) (q12 q13.3)]].

Two siblings with interstitial deletion of chromosome 14 not associated with ring formation were reported. Clinical features of the patients included failure to thrive, severe mental retardation, microcephaly, round face, hypertelorism, micrognathia and high-arched palate. They were common also in five previously reported cases. Other peculiar finding was hyperthyrotropinemia in their neonatal periods; mild hypothyroidism was found in the elder sister, and hyperthyrotropinemia was only transient in the younger sister. By a high-resolution G-banding analysis, the maternal origin of the chromosome with the deletion was noted.

Abnormalities, Multiple↗
PubMed1989

Molecular-genetic study of Duchenne and Becker muscular dystrophies: deletion analyses of 45 Japanese patients and segregation analyses in their families with RFLPs based on the data from normal Japanese females.

This study consisted of 1) molecular deletion analyses in patients with Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) using the entire cDNA for the DMD gene as hybridization probes, 2) RFLP analyses in a large number of Japanese normal women using 11 DMD-linked cloned DNAs as probes, and 3) segregation analyses with these RFLP data in 17 DMD families in which prenatal or carrier diagnosis was required. The deletion study showed that 18 (43%) of 42 male DMD patients had a deletion within the DMD gene, while no detectable deletion was found in 3 BMD patients. These deletions were preferentially observed at the 5' end of the DMD gene, while no deletion was found in the 3' portion of the gene. Of a total of 15 RFLPs detected with the 11 probes, one was a new RFLP (probe/enzyme: P20/MspI). In 6 RFLPs, the allele frequencies in the Japanese were statistically different from those in the Caucasian. Based on the RFLP data combined with the result of the deletion study, an estimated diagnostic rate for prenatal diagnosis and/or carrier detection in the Japanese DMD families was 63%. The real diagnostic rate obtained from the prenatal and carrier diagnoses, which were practically performed in 17 families, corresponded to the estimation. A protocol useful for the diagnosis in Japanese DMD families is presented.

Chromosome Deletion↗
PubMed1989

Localization and characterization of dystrophin in muscle biopsy specimens from Duchenne muscular dystrophy and various neuromuscular disorders.

Dystrophin, surmised to be the causative protein of Duchenne muscular dystrophy (DMD), was studied for its intracellular localization and characterization by immunostaining and Western blotting using antidystrophin antibodies. In normal controls and in patients with various neuromuscular diseases other than DMD and Becker's muscular dystrophy (BMD), dystrophin was detected homogeneously on the entire surface membrane of the muscle fibers, whereas it was absent in DMD patients and partially observed in BMD cases. The density of dystrophin was low in BMD and female DMD patients. In mouse skeletal and cardiac muscles, too, dystrophin localized in the muscle surface membrane, and its presence in the brain was also suggested. However, dystrophin was not detected in mdx mice. These data suggest that myofiber necrosis in DMD patients and mdx mice is likely to be the result of plasma membrane instability.

Adolescent↗
PubMed1989

Dystrophin immunostaining and freeze-fracture studies of muscles of patients with early stage amyotrophic lateral sclerosis and Duchenne muscular dystrophy.

We used polyclonal antibodies against dystrophin for the immunohistochemical localization of this protein in human skeletal muscle. Dystrophin was localized in the sarcolemma of the myofibers in 8 infantile and 11 adult normal control muscles and in 10 early stage patient muscles with amyotrophic lateral sclerosis (ALS). The protein was absent or markedly decreased in 8 early stage patients with Duchenne muscular dystrophy (DMD). Moreover the densities of sarcolemmal plasma membrane assemblies, orthogonal arrays and their pits were estimated by freeze-fracture electron microscopy studies in the same number of muscle samples in each disease and control case. The group median densities of orthogonal arrays and their pits in the ALS group and adult control group were 4.8 with a midrange of 1.1-13.5 (25-75%) and 7.5 with a midrange of 2.3-12.9, respectively (P greater than 0.1, Wilcoxon rank-sum test), whereas those of the DMD group and child control group were 0 with a midrange of 0-1.1 and 10.8 with a midrange of 5.4-16.7 respectively (P less than 0.01). The skeletal muscles of mdx mice and their controls were also investigated by the same techniques. In mdx mice, the absence or marked deficiency of dystrophin was also noted; however, the decrease of orthogonal arrays was not as severe as in DMD, which might relate to the milder clinical features in mdx mice as compared with those in DMD.

Adult↗
PubMed1989

Possible systemic smooth muscle layer dysfunction due to a deficiency of dystrophin in Duchenne muscular dystrophy.

The localization of dystrophin was examined immunohistochemically in various tissues from mice and rats as well as from biopsied human muscle specimens, using polyclonal antibodies against dystrophin. Although dystrophin was completely absent in biopsied muscle specimens from 3 male DMD patients, it was faintly observed in the surface membrane of almost all muscle fibers examined in a female DMD patient. In all controls, human and animal, a strong dystrophin reaction was observed in the surface membrane of intrafusal muscle fibers and at the neuromuscular junctions, rather than in the surface membrane of skeletal and cardiac muscle fibers. In addition, dystrophin was clearly localized in the surface membrane of smooth muscle fibers in the viscera, bronchial system, ureter, and tunica media of blood vessels, including arteries and veins, in all examined animal tissues. In mdx mice, dystrophin was absent in almost all muscle and smooth muscle fibers in various tissues and blood vessels. These results suggested a possible systemic dysfunction of smooth muscle layers, especially those of blood vessels, as well as skeletal muscle fibers, due to a deficiency of dystrophin in Duchenne muscular dystrophy.

Animals↗
PubMed1989

Immunohistochemical dystrophin reaction in synaptic regions.

To investigate the functional significance of dystrophin, we studied various tissues of control and mdx mice, and rats immunohistochemically, using anti-dystrophin antibodies. In control animals, we observed the immunohistochemical localization of dystrophin in synaptic regions such as neuromuscular junctions, the cornea and outer plexiform layer of the retina, the taste buds and neurons in the brain, as well as on the surface membrane of skeletal, cardiac and smooth muscle fibers. In mdx mice, dystrophin was absent from the surface membrane of muscle fibers and the outer plexiform layer of the retina. These results suggest that dystrophin plays an important physiological and/or structural role in the conduction system.

Animals↗
PubMed1989

[A case of mitochondrial encephalomyopathy with cardiomyopathy due to decreased complex I and IV activities].

We reported a girl with mitochondrial encephalomyopathy, who had various neuromuscular symptoms including dilated cardiomyopathy, generalized convulsions, myoclonus, muscular weakness and growth retardation. Lactate levels in the serum and CSF were elevated. Muscle biopsy showed scattered ragged-red fibers, and complex I (NADH-CoQ reductase) and complex IV (cytochrome c oxidase) were markedly reduced. Although she was treated with coenzyme Q, DL-carnitine and sodium succinate, she died of progressive congestive heart failure at 9 10/12 years of age.

Cardiomyopathy, Dilated↗
PubMed1988

Complex glycerol kinase deficiency: molecular-genetic, cytogenetic, and clinical studies of five Japanese patients.

Five male Japanese patients with complex glycerol kinase deficiency (CGKD) and their relatives were studied clinically, cytogenetically, and molecular-genetically. All patients had muscular dystrophy or muscle weakness, mental retardation, congenital adrenal hypoplasia, and glycerol kinase deficiency. High-resolution GTG-banded chromosomes showed a microdeletion in the Xp21 region in all four patients examined and in all five mothers. Southern hybridizations, after digestions by restriction endonucleases, with various cloned DNAs (D2, 99-6, B24, C7, L1-4, cDMD13-14, J66-HI, P20, J-Bir, ERT87-30, ERT87-15, ERT87-8, ERT87-1, XJ-1.1, 754, cx5.7, and OTC-1) that are located around Xp21 also showed a deletion in the genome of all patients and mothers. Although the deletion differed in size among patients, a segment commonly absent was located between the genomic sequences corresponding to L1-4 and cDMD13-14. This finding indicated that the gene coding for glycerol kinase (GK) is located within this segment. A comparison of the clinical manifestations of the present five patients and reported CGKD or Duchenne muscular dystrophy (DMD) patients with DNA deletion suggests the existence of a certain gene responsible for gonadotropin deficiency (GTD). The result of the present study and results of previous studies suggest that genes for ornithine transcarbamylase (OTC), DMD, and GK and putative genes responsible for congenital adrenal hypoplasia (AHC) and GTD are arranged from telomere to centromere as pter--GTD--AHC--GK--DMD--OTC--cen.

Adolescent↗
PubMed1988

Correlative study of the incidence of opaque, necrotic and regenerative fibers in Duchenne dystrophy.

We studied the incidence of opaque, necrotic, and regenerative muscle fibers (OFs, NFs, RFs) in muscle biopsies from 21 patients, aged 8 months to 24 years, with Duchenne muscular dystrophy (DMD). OFs varied from case to case with an average rate of 8.3%. NFs and RFs were high in younger patients and decreased with age. The incidence of OFs, NFs, and RFs correlated to patient age with these coefficients: r = -0.38, -0.91, and -0.86. Except for OFs, all correlations were significant (p less than 0.001). There was no significant correlation between the incidence of OFs and NFs in each case of DMD. Considering the results of previous biochemical analysis of single OFs, we suggest that OFs may comprise two types of muscle fibers: (1) pathological muscle fibers to be regarded as precursors of NFs, and (2) muscle fibers undergoing artificial changes.

Adolescent↗