Observation of polarization of the soft x-ray laser line in neonlike germanium ions.
Explore the source record for details and available documents.
Journal Article↗
Biomedical subjects
S Ninomiya
Publications and source records attributed to S Ninomiya.
Efficient soft X-ray lasing at 6 to 8 nm with nickel-like lanthanide ions.
Explore the source record for details and available documents.
Journal Article↗
Acampomelic campomelic syndrome and sex reversal associated with de novo t(12;17) translocation.
The association of rare chromosomal rearrangements involving a specific 17q breakpoint with campomelic syndrome (CMPS) and/or sex reversal (SR) has led to an assignment of the CMPS1/SRA1 locus to 17q24.3-->q25.1. We describe a patient with multiple anomalies and SR, who had a de novo t(12;17) translocation. The phenotype was consistent with that of CMPS except for the lack of lower limb bowing and talipes equinovarus. Chromosome painting indicated that the breakpoints appeared to have occurred at 12q21.32 and 17q24.3 or q25.1. This study suggests that acampomelic CMPD with SR represents a variant of the CMPS1/SRA1 locus disorder. We emphasize the likelihood that CMPS may be a contiguous gene syndrome.
Base Sequence↗
Evaluation of carpal canal pressure in carpal tunnel syndrome.
Preoperative electrophysiologic testing and intraoperative carpal canal pressure measurements were performed on 957 hands in 647 patients with clinical signs of carpal tunnel syndrome. Fifty-five symptomatic hands in 48 patients were normal in both distal sensory latency and distal motor latency preoperatively. Carpal canal pressure was, however, significantly elevated compared to control data in all 55 hands. After complete subcutaneous release of the carpal canal using the Universal Subcutaneous Endoscope system, carpal canal pressure was reduced to within the normal control range. Clinical symptoms of carpal tunnel syndrome improved in all 55 hands. Postoperative electrophysiologic data remained within normal range in patients who agreed to receive electrophysiologic examinations.
Adult↗
Craniosynostosis and hemizygosity for D7S135 caused by a de novo and apparently balanced t(6;7) translocation.
Craniosynostosis (CRS) is frequently seen in the del(7p) syndrome, and the gene for this cranial anomaly (CRS1) has been assigned to 7p21. We present a 3-year-old boy with CRS involving the sagittal and coronal sutures, who had a de novo and apparently balanced translocation, t(6;7)(q16.2;p15.3). Southern blot analysis of several loci on 7p14-->pter showed that the patient was heterozygous for HOX1I and IL6, possibly homozygous for D7S149, but hemizygous for D7S135 with a loss of the paternal allele. These findings suggest the localization of a candidate gene for CRS1 to be on 7p15.3 in the close proximity to the D7S135 locus.
Blotting, Southern↗
Effects of endoscopic release of the transverse carpal ligament on carpal canal volume.
Ten hands in 10 patients with carpal tunnel syndrome were treated by subcutaneous transverse carpal ligament release using the Universal Subcutaneous Endoscope system. We analyzed the morphologic changes of the carpal canal with magnetic resonance imaging (0.064 T) before and after the operation. The axial plane, which includes the beak of the trapezium and the hook of the hamate, was selected for analysis. The soft tissue boundaries of the carpal canal were outlined at the plane. The cross-sectional area of the carpal canal was 232 +/- 49 mm2 before surgery and 320 +/- 108 mm2 after surgery. There was a 33% +/- 15% increase of the carpal canal cross-section after transverse carpal ligament release. The transverse carpal ligament became more outwardly convex after the operation. The endoscopic procedure is effective for increasing the cross-sectional area and volume of the carpal canal.
Adult↗
Anterior dislocation of the proximal fragment of a scaphoid fracture: a case report.
Explore the source record for details and available documents.
Accidents, Traffic↗
Interchange trisomy 9 due to maternal t(6;9) translocation.
The occurrence of interchange trisomy due to a 3:1 malsegregation has been documented in only a few cases with trisomy 21. We describe the first case of interchange trisomy 9 due to a maternal t(6:9) translocation. The patient, a boy neonate who died immediately after birth, had intra-uterine growth retardation, specific craniofacial features including microcephaly with a high forehead, low-set ears, upslanting short palpebral fissures, microphthalmia, bulbous nose and micrognathia, cryptorchidism, cystic kidney and various skeletal anomalies. His phenotype was consistent with that of the trisomy 9 syndrome. Cytogenetic analysis showed his karyotype of 47,XY,-6, + der(6), + der(9)t(6;9)(q27;q21.1)mat. The present report indicates that a very rare interchange mode of a 3:1 segregation can give rise to a live birth with full trisomy 9 in female carriers with reciprocal translocations involving the proximal long arm of chromosome 9.
Adult↗
Reproductive risk in mating between two translocation carriers: case report and review of the literature.
We conducted a study to determine the reproductive risk in a couple who were translocation carriers. This couple, who carried balanced reciprocal translocations, experienced habitual abortions. The wife had a karyotype of 46,XX,t(7;13)(p15.3;q12.3) and the husband of 46,XY,t(1;7)(p11.1;p11.1). Chromosome study of their fourth abortus demonstrated a chimera consisting of two cell lines with a 46,XY and a 46,XX,t(1;7)(p11.1;p11.1)pat, -13, + der(7)t(7;13)(p15.3;q12.3)mat, karyotype. A review of the literature indicates that the risk of having unbalanced live offspring or of spontaneous abortion/stillborns is similar in couples in whom both were translocation carriers and in couples in whom one individual was a translocation carrier. The apparent lack of increased reproductive failure may result from the selective disadvantage of aneusomic gametes at fertilization or very early spontaneous abortions of unbalanced conceptuses.
Abortion, Habitual↗
[Avascular necrosis of the femoral head: staging by MR imaging].
Magnetic resonance (MR) images and conventional radiographs were compared in 142 hips with avascular necrosis, and a staging system for the disease based on MR imaging was developed. MR images were classified into three patterns: class I: a band of low signal intensity, class II: an area of low signal intensity with internal spot (s) of high signal, and class III: an area of low signal intensity without internal spots of high signal. Most MR class I lesions were in radiographic stage I (normal) or II (sclerotic or cystic changes without collapse). Most MR class II lesions were in radiographic stage III (segmental collapse), and most MR class III lesions were in stage III or IV (secondary degenerative changes). The MR image classification was closely correlated with radiographic staging (p < 0.01, using chi square test). We considered that this classification closely reflected the different stages of the disease according to the histopathology of the bone marrow.
Adult↗
Characterization of specific cytochrome P450 enzymes responsible for the metabolism of diazepam in hepatic microsomes of adult male rats.
The role of several P450 enzymes in the metabolism of diazepam (DZ) has been investigated. Hepatic microsomes of adult male rats were pretreated with antisera raised against the P450s CYP3A2, 2B1, 2C6, 2C11, 2D1 and 2E1, and their influence on the subsequent metabolism of DZ was determined by simultaneously measuring the changes in the relative rates of formation of its metabolites. Several forms of P450 were found to be positively involved in DZ metabolism. Antisera of the "male-specific" P450 enzyme CYP2C11 partially inhibited both DZ N-demethylase and C3 hydroxylase activities (60%) which resulted in decreased formations of N-desmethyl-DZ (NDZ) and 3-hydroxy-DZ (3HDZ), respectively. In a reconstitution experiment with the purified enzyme, CYP2C11 predominantly catalysed the formation of NDZ from DZ. Antisera of a further male-specific P450 CYP3A2 strongly inhibited (95%) the C3 hydroxylase of DZ and thus 3HDZ formation. A corresponding reconstitution experiment with this same P450 enzyme gave 3HDZ as principal product. CYP2D1 antisera inhibited the aromatic hydroxylation of DZ (98%) and subsequent formation of 4'-hydroxy-DZ (4'HDZ). This enzyme was also observed to inhibit DZ N-demethylase activity (60%). A reconstitution experiment with pure CYP2D1 catalysed the formation of both 4'HDZ and NDZ.
Animals↗
Dynamic external finger fixator for fracture dislocation of the proximal interphalangeal joint.
The treatment of fracture dislocations of the proximal interphalangeal joint often results in pain and stiffness. A small dynamic external finger fixator was designed to maintain the reduced position of the dislocated middle phalanx and allow early active range-of-motion exercise. Four patients with acute unstable fracture dislocations and three with old malunited fracture dislocations of the proximal interphalangeal joint were treated with this apparatus. The average range of the proximal interphalangeal joint motion with this device was 88 degrees. The average follow-up period was 21 months.
Adolescent↗
Avascular necrosis of the femoral head. Natural history and magnetic resonance imaging.
We studied the prognostic value of MRI in 32 radiographically normal, asymptomatic hips in 25 patients at risk of osteonecrosis from glucocorticoids or alcoholism. The early findings were band-like hypointense zones on spin-echo images. No operations were performed. Life-table survival curves showed that femoral heads in which the hypointense zone traversed the middle portion of the head were most at risk of subsequent segmental collapse.
Adolescent↗
Polylactide screws in acetabular osteotomy. 28 dysplastic hips followed for 1 year.
Absorbable polylactide screws were used for internal fixation of rotational acetabular osteotomy (RAO) in 28 dysplastic hips. No cast was used and the patients were allowed to walk with partial weight bearing 1 month after surgery. Clinical and radiographic results were evaluated after 14 (6-24) months. Union occurred in all cases within 4 months without displacement of the osteotomy. No foreign-body inflammatory reaction on radiographs was observed, nor were there any local reactions, such as redness or swelling. Polylactide screws seem to provide sufficient strength for the internal fixation of RAO. Further observation is necessary to identify any late foreign body reaction.
Acetabulum↗
Results of endoscopic management of carpal-tunnel syndrome in long-term haemodialysis versus idiopathic patients.
The purpose of this paper is to compare the results of our endoscopic management of carpal-tunnel syndrome caused by long-term haemodialysis to that with no apparent cause (idiopathic). We have operated on 551 hands in 370 patients using the Universal Subcutaneous Endoscope system under local anaesthesia without a pneumatic tourniquet on an out-patient basis since 1986. Ninety-six hands in 64 patients who suffered from carpal-tunnel syndrome from long-term haemodialysis and 85 hands in 52 patients who suffered from carpal-tunnel syndrome for no apparent cause were statistically analysed using complete pre- and postoperative electrophysiological and clinical studies for periods of time ranging from over 6 months to 4.8 years (mean 16.9 months). Electrophysiological and clinical results showed that our endoscopic management in long-term haemodialysis patients is effective, safe and yields the same results as in patients who suffered from carpal-tunnel syndrome for no apparent cause.
Adult↗
Results of endoscopic management of carpal tunnel syndrome.
This paper is a retrospective study of 27 women with carpal tunnel syndrome (39 hands) who underwent a new endoscopic operative procedure utilizing the Universal Subcutaneous Endoscope system developed by the lead author. Operations on 199 hands were performed under local anesthesia on an outpatient basis. The etiology was considered idiopathic in all cases. Complete preoperative and postoperative clinical and electrophysiologic data were analyzed in 39 hands. The follow-up period ranged from 12 to 45.8 months (mean, 18.3 months). Symptoms of sensory disturbances disappeared in an average of 20 weeks in all patients. Electrophysiologic studies showed definite improvement when compared with preoperative studies. No complications were recorded. Clinical and electrophysiologic results showed that the less-invasive management of carpal tunnel syndrome by endoscopy is safe and effective.
Ambulatory Surgical Procedures↗
Case of ovarian dysgenesis and dilated cardiomyopathy supports existence of Malouf syndrome.
We describe an 18-year-old girl with ovarian dysgenesis, dilated cardiomyopathy, mild mental retardation, broad nasal base, blepharoptosis, and minor skeletal abnormalities. This unusual association of manifestations was first reported by Malouf et al. [1985]. Our patient, although a sporadic case, supports the existence of Malouf syndrome.
Adolescent↗
Growth hormone deficiency and empty sella syndrome in a boy with dup(X) (q13.3----q21.2).
A 2 8/12-year-old boy with severe growth failure and mental retardation was found to have a maternally derived tandem duplication of the long arm of X chromosome, dup(X) (q13.3----q21.2). Karyotypic interpretation was further confirmed in this patient by a double gene dose for red blood cell phosphoglycerate kinase. DNA replication study showed that the duplicated X chromosome was always late replicating in peripheral blood lymphocytes as well as in skin fibroblasts from the mother. Endocrine studies in the patient demonstrated growth hormone deficiency. Magnetic resonance imaging of the head then disclosed the empty sella syndrome. This appears to be the first report of a dup(Xq) patient associated with a growth hormone deficiency and the empty sella syndrome. We emphasize that duplication of the proximal Xq in males represents another microduplication syndrome (Thode-Leonard syndrome).
Child, Preschool↗