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Biomedical subjects

Y Kuroki

Publications and source records attributed to Y Kuroki.

At least 109 records · Page 6Linked to original sources
PubMed1998

[Three Japanese children with X-linked alpha-thalassemia/mental retardation syndrome (ATR-X)].

X-linked alpha-thalassemia/mental retardation syndrome (ATR-X), which was first reported by Wilkie, et al. in 1991, is a disorder with severe mental retardation, characteristic facial appearance, genital abnormalities, and mild form of alpha-thalassemia. At present, about 50 cases have been reported in the world, but few in Japan. We report 3 cases of this disorder in 2 families. All cases prefer a peculiar posture and show unique movements, such as self-induced vomiting or self-hanging, which can be diagnostic. ATR-X should be considered as a differential diagnosis in all male patients with severe mental retardation.

Child↗
PubMed1997

Congenital scoliosis (hemivertebra) associated with de novo balanced reciprocal translocation, 46,XX,t(13;17)(q34;p11.2).

We report on an 8-year-old girl with congenital scoliosis (segmented hemivertebra between the second and third lumbar vertebrae) and psychomotor developmental delay. She has a de novo reciprocal translocation, t(13;17)(q34;p11.2). Congenital scoliosis is one type of structural spine deformation and hemivertebra is the most common anomaly causing congenital scoliosis. The cause and the mode of inheritance of hemivertebrae are unknown. Our patient has a de novo balanced chromosome aberration and retains two copies of the LLGL gene, which is usually lacking in patients with Smith-Magenis syndrome (SMS). Since some SMS patients who showed a deletion at 17p11.2 had congenital scoliosis, it is likely that one (17p11.2) of the breakpoints in our patient is a candidate region for a hemivertebra locus.

Child↗
PubMed1997

Dominant inheritance of Kabuki make-up syndrome.

We report on a total of 4 individuals in 2 families with Kabuki make-up syndrome. In family 1, the proposita, a 2 4/12-year-old girl and her mother had typical Kabuki make-up syndrome. The proposita also had early breast development. In family 2, the proposita, a 6-month-old girl and her mother had typical Kabuki make-up syndrome. The proposita died at age 6 months. Analysis of 2 families indicates that the condition is an autosomal dominant inheritance with variable expressivity.

Abnormalities, Multiple↗
PubMed1997

Enzyme-linked immunosorbent assay using F(ab')2 fragment for the detection of human pulmonary surfactant protein D in sera.

We developed an enzyme-linked immunosorbent assay (ELISA) for detection of SP-D in serum using recombinant SP-D as a standard and horseradish peroxidase conjugated F(ab')2 fragment of mouse monoclonal antibody IgG to avoid the interaction of serum factors including rheumatoid factor. The use of F(ab')2 fragment dramatically decreased the value of serum SP-D concentration in rheumatoid arthritis patients without pulmonary complication to the close level of healthy volunteer. In contrast, the patients with collagen disease having interstitial pulmonary pneumonia exhibited consistently elevated levels of serum SP-D. The use of new ELISA with recombinant SP-D and F(ab')2 fragment of anti-SP-D monoclonal antibody gives a greater advantage for the accurate detection of SP-D in sera from patients with idiopathic pulmonary fibrosis, interstitial pneumonia with collagen disease and pulmonary alveolar proteinosis without interference of rheumatoid factor.

Adult↗
PubMed1997

A novel type of binding specificity to phospholipids for rat mannose-binding proteins isolated from serum and liver.

Mannose-binding protein (MBP) belongs to the collectin subgroup of C-type lectins with specificity for mannose and N-acetylglucosamine sugars. We investigated whether rat MBPs isolated from serum (S-MBP) and liver (L-MBP) interact with phospholipids using antibody against each MBP. Both S- and L-MBPs bound to phosphatidylinositol coated onto microtiter wells in a concentration- and a Ca2+-dependent manner. L-MBP also bound to phosphatidylglycerol and weakly to phosphatidylserine. MBPs interacted with liposomes composed of these lipids. S- and L-MBPs bound to phosphatidylinositol 4-monophosphate. L-MBP also bound to cardiolipin. These results provide evidence for a novel type of ligand binding specificity for MBPs, and raise the possibility that phospholipids are ligands for collectins.

Acute-Phase Proteins↗
PubMed1997

The mannose-binding protein A region of glutamic acid185-alanine221 can functionally replace the surfactant protein A region of glutamic acid195-phenylalanine228 without loss of interaction with lipids and alveolar type II cells.

Pulmonary surfactant protein A (SP-A) is a C-type lectin that regulates the uptake and secretion of surfactant lipids by alveolar type II cells and binds dipalmitoylphosphatidylcholine (DPPC) and galactosylceramide (GalCer). We isolated mannose-binding protein A (MBP-A) from rat sera, which is structurally analogous to SP-A, and examined if it was functionally equivalent to SP-A. We found that MBP-A did not possess the ability to interact with lipids and type II cells. The purpose of this study was to investigate the SP-A region involved in binding lipids and interacting with type II cells by using chimeric proteins with MBP-A. Chimeras AM1, AM2, and AM3 were constructed with SP-A/MBP splice junctions at Cys218/Gln210, Lys203/Cys195, and Gly194/Glu185, respectively. All of the chimeras bound DPPC and GalCer with activity comparable to recombinant SP-A. The three chimeras retained the ability to induce phospholipid vesicle aggregation and augment lipid uptake by type II cells, albeit to a lesser extent than wild type SP-A. The chimeras inhibited lipid secretion from type II cells with an IC50 of 0.5 microg/mL and competed effectively for SP-A receptor binding. In addition all these chimeras contained the epitope for monoclonal antibody 1D6, which blocks specific SP-A function. From these results, we conclude that the MBP-A region of Glu185-Ala221 can functionally replace the homologous SP-A region of Glu195-Phe228 without loss of interaction with lipids and type II cells.

Acute-Phase Proteins↗
PubMed1997

Lymphokine activated killer cells in murine coxsackievirus B3 myocarditis.

The purpose of the present study was to determine whether lymphokine activated killer (LAK) cells were involved in the development of coxsackievirus B3 (CB3) myocarditis in both the acute viremic (Experiment I) and the subacute aviremic (Experiment II) stages. To induce LAK cells, recombinant human interleukin-2 (IL-2) was administered to CB3-infected mice subcutaneously daily, starting on day 0 in Experiment I and on day 7 in Experiment II for 7 days, respectively. The treated groups were compared to infected controls. Splenic lymphocytes of IL-2 treated mice were further cultured in vitro in IL-2 containing medium for 7 days, and LAK cell activity, i.e., cytotoxic activity of the lymphocytes against EL-4 tumor cells and against cultured fetal myocytes, was assayed by 51Cr-release method. In Experiment I, histologic scores, myocardial virus titers, and LAK cell activity did not differ significantly between IL-2 treated and untreated groups. In contrast, in Experiment II, there were more cellular infiltration associated with severe necrosis and higher LAK cell activity against EL-4 cells and cultured myocytes in IL-2 treated than in untreated groups. The presence of LAK cells was demonstrated in the subacute stage of murine CB3 myocarditis. Thus, the behavior of LAK cell activity may vary with the course of myocarditis, and enhanced LAK cell activity may be involved in the development of the disease.

Animals↗
PubMed1997

An azoospermic male with an unbalanced autosomal-Y translocation.

An azoospermic male with an unbalanced translocation between the Y chromosome and chromosome 15 was examined in the present study. Testicular biopsy found only Sertoli cells only within the seminiferous tubules of the 35-year-old patient. Chromosome analysis, using the techniques of G and C banding and fluorescent in situ hybridization revealed an abnormal karyotype of 46,XY,der(15)t(Y;15)(q12;p11). Deoxyribonucleic acid (DNA) analysis confirmed the presence of the genes such as DAZ and YRRM1 which are known to control spermatogenesis. The cause of spermatogenetic dysfunction in this particular patient therefore.

Adult↗
PubMed1997

Inhibitory effects of fluorinated pyrimidines, 5'-DFUR, UFT and T-506, in a model of hepatic metastasis of mouse colon 26 adenocarcinoma-assessment of inhibitory activity and adverse reactions at the maximum tolerated dose.

The effects of fluorinated pyrimidines, 5'-DFUR, UFT and T-506, on a mouse model of hepatic metastasis were assessed in regard to inhibitory activity and adverse reactions at the maximum tolerated dose. The model was prepared by injecting the mouse colonic cancer cell line, colon 26, into the portal vein of CDF1 mice. At the treatment regimens employed for 5'-DFUR (1.0 mmol/kg/day, p.o., daily from days 1 to 7), UFT (0.1 mmol/kg/day, p.o., daily from days 1 to 7), and T-506 (0.074 mmol/kg/day, i.v., days 1, 4, 7, and 10), complete inhibition of hepatic metastasis was obtained in six out of seven mice (85.7%) with 5'-DFUR, and in five out of six mice (83.3%) with T-506. Significant inhibition of hepatic metastasis was not achieved with UFT (3/7, 42.9%). 5'-DFUR and T-506 showed the highest rate of inhibition of hepatic metastasis, suggesting that these drugs would be effective for the prophylactic treatment of metastatic disease. 5'-DFUR and UFT exhibited mild adverse reactions such as loss of body weight.

Adenocarcinoma↗
PubMed1997

Dicentric Y chromosome in an azoospermic male.

We describe a 28 year old male with a pseudodicentric Y chromosome who suffered from azoospermia attributed to maturation arrest of the primary spermatocyte, as diagnosed by testicular biopsy. Chromosome analysis, using G, Q and C banding techniques, revealed an abnormal karyotype of 45,X[7]/46,X,psu dic (Y)(pter-->q11.2::q11.2-->pter)[33]. Polymerase chain reaction (PCR) DNA analysis did not detect the absence of DAZ and RBM1 which are candidates for azoospermic factor (AZF) genes. Therefore, it is suggested that the maturation arrest of the primary spermatocyte in this patient was caused either by a pairing dysfunction between the X and Y chromosomes during meiosis or by deletions in the autosomal or the Y chromosomal spermatogenesis controlling genes, excluding DAZ and RBM1.

Adult↗
PubMed1997

Median cleft of upper lip and pedunculated skin masses associated with de novo reciprocal translocation 46,X,t(X;16)(q28;q11.2).

We describe a de novo apparently balanced reciprocal translocation, 46,X,t(X;16)(q28;q11.2), in a 13 year old girl with median cleft of the upper lip, pedunculated skin masses on the nasal septum, short stature, and mental retardation. Pai syndrome is characterised by median cleft of the upper lip, pedunculated skin mass(es) on the face, and midline lipoma(s) of the central nervous system. The cause of this syndrome is unknown, although autosomal dominant inheritance has been proposed. The translocation breakpoints in the present patient may be candidate regions for a gene responsible for median cleft of the upper lip and pedunculated skin mass(es) on the face, including Pai syndrome.

Abnormalities, Multiple↗
PubMed1997

Immunoglobulin G is associated with surfactant protein A aggregate isolated from patients with pulmonary alveolar proteinosis.

We have previously shown that the purified preparation of surfactant protein A (SP-A) isolated from patients with pulmonary alveolar proteinosis (PAP) contains a very small amount of immunoglobulin G (IgG). We have recently found that there exists an abnormal multimerized form (alveolar proteinosis protein-I, APP-I) in SP-As isolated from patients with PAP in addition to normal-sized octadecameric APP-II. We examined which of the populations of APP that IgG is associated with. The APP was purified by mannose-affinity column followed by gelfiltration over Bio Gel A5m after the delipidation with 1-butanol. Analysis by gel filtration over Bio Gel A15m showed two elution peaks of APP-I and APP-II. When the fractions eluted from the Bio Gel A15m column were coated onto microtiter wells and reacted with HRP-labeled antihuman IgG, the elution peak of IgG was superimposed on that of APP-I but not on that of APP-II. The immunoblotting analysis also revealed that a very small amount of IgG, which could not be detected by staining with Coomassie blue or amido black, was associated with APP-I but not with APP-II or normal SP-A. APP-I bound to nonimmune IgG coated onto microtiter wells in a concentration-dependent manner, whereas APP-II, normal human SP-A, and rat SP-A exhibited almost no binding to IgG. The results indicate an unusual property of SP-A during the diseased state.

Chromatography, Gel↗
PubMed1997

Femoral component wear in retrieved hip prostheses.

We retrieved 159 femoral heads at revision surgery to determine changes in surface configuration. Macroscopic wear of the head was observed in three bipolar hip prostheses as a result of three-body wear. There was a considerable change in surface roughness in the internal articulation of bipolar hip prostheses. Roughness in alumina heads was almost the same as that in new cobalt-chromium heads. The annual linear wear rate of polyethylene cups with alumina heads was less than that of cups with cobalt-chromium alloy heads. Polyethylene wear was increased in the prostheses which had increased roughness of the head.

Adult↗
PubMed1997

Modified Sugioka's osteotomy: more than 130 degrees posterior rotation for osteonecrosis of the femoral head with large lesion.

High degree posterior rotational osteotomy was performed on 31 hips with extensive osteonecrosis that were outside of Sugioka's indication. Among them, 18 hips of 13 patients were reviewed at 24 to 94 months (mean, 42 months). The remaining 13 hips were excluded because the followup was less than 2 years. All hips had less than 1/3 of the posterior area intact preoperatively, which is out of the indication for traditional anterior rotational osteotomy. The posterior rotation applied to the femoral head was 130 degrees to 180 degrees (mean, 138 degrees ). Furthermore, 10 degrees to 25 degrees of intentional varus position was added to the rotation (mean, 15.8 degrees). The preoperative intact articular surface of the loaded portion of the femoral head was 0% to 40% (mean, 6.9%) on anteroposterior radiograph, and it was extended postoperatively to a mean of 80.3% (range, 53%-100%). Collapse was prevented in 17 hips that have remained pain free. The remaining 1 hip sustained secondary collapse and joint narrowing. Mean flexion was 105 degrees and abduction was 20 degrees. Postoperative angiography of 9 hips and bony scintigraphy of 17 hips indicated no findings implying impairment of blood supply. Despite a relatively short term experience, it is concluded that this technique was effective in the treatment of large necrotic lesions, especially for young patients.

Adolescent↗
PubMed1996

SPONASTRIME dysplasia: report on a female patient with severe skeletal changes.

We report on a 6-year-old girl with SPONASTRIME dysplasia, characterized by short-limbed dwarfism, a relatively large head, midfacial hypoplasia, a saddle nose, moderate deformities of the vertebral bodies, striated metaphyses, and normal intelligence. She showed severe skeletal changes including marked delay of epiphyseal ossification, evident metaphyseal dysplasia, and osteopathia striata more pronounced than in most of the previously reported patients with this disorder. The patient we describe and a male patient reported by Camera et al. [1994: Pediatr Radiol 24:322-324] are likely to represent the severely-affected end of the clinical spectrum of the disorder. These finding thus rule out the X-linked mode of inheritance of the disorder proposed by Camera et al. [1994: Pediatr Radiol 24: 322-324]. Alternatively, the two severely-affected patients may represent a variant form of the disorder. There is evidence that SPONASTRIME dysplasia is a genetically heterogeneous disorder.

Bone Diseases, Developmental↗