Biomedical subjects
Publications and source records attributed to S Ninomiya.
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.
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).
A physical disruption of the Prader-Willi syndrome (PWS) chromosome region is thought to cause PWS. We describe 2 girls with PWS phenotype, who had unique chromosome 15 abnormalities. The first patient showed mosaicism: 45,XX,t(15;15)(qter----p11.1::q11.200----qter)/46,XX,t(15;15)(qter----p1 1.1::q 11.200----qter), +mar. The band 15q11.2 apparently remained intact in the t(15;15) chromosome, and the mar chromosome was considered as r(15) (p11.1q11.1). The second patient had a karyotype of 47,XX,del(15)(q11.200----q11.207), +idic (15)(pter----q11.1::q11.1----pter). The complex breakage and reunion involving the 15q11.2 regions of the father's homologous chromosomes 15 at meiosis appeared to have resulted in the idic(15) and the del(15) chromosomes. These cytogenetic findings suggest that the PWS chromosome region may be localized on the very proximal portion of band 15q11.2.
A de novo and apparently balanced complex chromosome rearrangement (CCR) was found in monozygotic (MZ) twin infants with multiple congenital anomalies. The rearrangement involved 4 chromosomes with 6 breakpoints including 2p23, 2q13, 2q21.1, 3p23, 11q13.1, and 12q24.1. This seems to be the first report of a CCR in MZ twins. The relationship between this chromosome abnormality and MZ twinning is discussed.
A case of ulnar nerve entrapment neuropathy caused by the arcade of Struthers is reported. Nerve conduction studies showed a complete block and surgical decompression was successful.
We developed a new operative procedure of coracoacromial ligament release for shoulder impingement syndrome. The operative procedure was confirmed by cadaveric studies and applied to clinical cases in 40 shoulders of 37 patients who suffered from shoulder impingement without bony abnormalities. The subacromial space was observed under local anesthesia using the Universal Subcutaneous Endoscope (USE) system on an outpatient basis. A popping phenomenon was observed between the coracoacromial ligament and the greater tuberosity of the humerus, which was covered by the rotator cuff, and the coracoacromial ligament was resected with a rongeur under endoscopic visualization in all shoulders. Resection of the coracoacromial ligament relieved the impingement and clinical signs, as in open or arthroscopic resection of the coracoacromial ligament. Resection of the coracoacromial ligament using the USE system is a safe and less-stressful surgical invasion than open or standard arthroscopic resection of the coracoacromial ligament.
A 7 month old girl with psychomotor retardation, hypotonia, and minor malformations was found to have a terminal deletion of the long arm of chromosome 22, del(22)(q13.31). The partial deficiency of arylsulphatase A (ARSA) and the normal level of NADH diaphorase 1 (DIA1) suggests that the ARSA locus can be regionally assigned to 22q13.31----qter and the DIA1 locus can be excluded from the same segment. This report is the third published case with a terminal 22q deletion.
Allergy is a common feature of patients with chronic fatigue syndrome (CFS). Because of this strong association, we attempted to explore the prevalence of allergies among Japanese patients with CFS. Of the present 18 patients, 78% had allergies during their premorbid and/or postmorbid conditions. Their allergies were mainly cutaneous reactions including drug allergies and 43% of the patients had 2 or more allergic reactions. In the case of a premorbid condition, allergies improved spontaneously after onset of CFS. Clinical manifestations of CFS, however, became worse during the period of an association with allergies. Immunologic tests, including peripheral blood lymphocyte-subsets, blastogenesis, natural killer-cell functions and cytokine-assays, were not any correlation between both patients with and without allergies.
The pharmacokinetics of 14C-cefepime dihydrochloride (14C-CFPM), were studied in rats upon both single and repeated intravenous administration. 1. Blood level of radioactivity was 59.27 micrograms eq./ml at 5 minutes after single intravenous administration at a dose of 20 mg/kg, and declined biexponentially thereafter. The values of AUC and T 1/2 were 70.1 micrograms eq..hr/ml and 38.0 hours, respectively. 2. Blood level of radioactivity was 59.41 micrograms eq./ml at 5 minutes after administration on the 7th day of repeated intravenous administration at a daily dose of 20 mg/kg, and declined more slowly as compared to the case of single administration. The values of AUC and T 1/2 after repeated administration were 159.7 micrograms eq..hr/ml and 44.5 hours, respectively. 3. Urinary and fecal excretion rates after single administration were 93.3% and 3.3%, respectively. 4. Urinary and fecal excretion rates were almost constant throughout the repeated administration; 88.4-90.7% and 2.3-3.7%, respectively. 5. 14C-CFPM distributed rapidly to the whole body except to the central nervous system. Although the radioactivity was removed rapidly from tissues, high levels of radioactivity remained in the kidney and the spleen as compared to other tissues. 6. Tissue concentrations of radioactivity at 5 minutes after the final dose of repeated administration were about the same as those after single administration but they declined more slowly than those after single administration. High levels of radioactivity were found in the kidney and the spleen as were found upon single administration. The ratios of these levels between repeated and single dosing were 4.3 and 2.6 for kidney and spleen, respectively. 7. Data obtained with autoradiograms of the whole body were consistent with measured tissue distribution obtained in both cases of single and repeated administration.
The pharmacokinetics of 14C-cefepime dihydrochloride (14C-CFPM), was studied in dogs after single intravenous administration at a dose of 20 mg/kg. Protein binding was also investigated both in vitro and in vivo. 1. Blood level of radioactivity was 83.53 microns eq./ml at 5 minutes after single intravenous administration and declined biexponentially thereafter. The values of AUC and T1/2 were 229 microns eq.(.)hr/ml and 90 hours, respectively. 2. Urinary and fecal excretion rates were 95.1% and 2.7%, respectively. 3. The in vitro protein binding at 1 to 100 microns/ml of drug concentration was 7.9 to 12.7% in rat, 12.4 to 18.6% in human, and 12.5 to 14.5% in dog. In vivo protein binding, which increased with time after administration, was 10.8 to 92.9% in rat and 17.5 to 64.9% in dog at 5 minutes to 6 hours.
For the purpose of an effective management of patients at high risk for nontraumatic avascular necrosis of the femoral head (ANFH), it is expedient to examine the femoral heads of patients most likely to undergo subsequent segmental collapse. The purpose of this study was to evaluate the ability of magnetic resonance imaging (MRI) and radionuclide bone scanning (RS) to predict segmental collapse of the femoral head at the roentgenographically normal stage. Fifty-five hips in 37 patients at risk for ANFH and having normal roentgenograms were included in this study. Magnetic resonance imaging was performed in all hips and RS in 29 hips. The patients were observed during a period of more than two years without any invasive intervention, and nine femoral heads manifested collapse during this period. Predictive values for subsequent segmental collapse of a positive test of MRI and RS were 31% and 13%, respectively, whereas those indicative of a negative test were 100% and 76%, respectively. Magnetic resonance imaging was more useful than RS in detecting patients in need of intensive follow-up examination. In particular, a bandlike area of low intensity that traversed the femoral head in midcoronal slices on MR images seemed to be a significant indicator of subsequent collapse.
We report on a 13-year-old girl with complete Kearns-Sayre syndrome (KSS) and unusual manifestations of anhidrosis and de Toni-Fanconi-Debré syndrome which preceded by several years the onset of KSS triad. Histochemical examination of skeletal muscle showed focal deficiency of cytochrome c oxidase (CCO). Southern blot analysis of mitochondrial DNA (mtDNA) demonstrated a deletion of 5.4 kb in 60% of the total mtDNAs isolated from the muscle and kidney. On electron microscopy, epithelial cells of the proximal and distal renal tubules and the sweat glands showed an increased number of giant mitochondria with complicated and concentric cristae. This appears to be the first report of complete KSS associated with renal and skin involvement. Data obtained in this patient provide important information on the clinical heterogeneity and tissue specificity of CCO deficiency.
In 48 shoulders of 29 patients receiving long-term haemodialysis and complaining of intolerable shoulder pain, endoscopic resection of the coracoacromial ligament was performed under local anaesthesia on an outpatient basis, using the Universal Subcutaneous Endoscope system. Predominant endoscopic findings were proliferation of the subacromial bursae and popping between the coracoacromial ligament and the rotator cuff. Amyloid originating from beta 2 microglobulin (beta 2-M) was demonstrated in 87% of the resected coracoacromial ligaments and 86% of the subacromial bursae. Resection of the coracoacromial ligament relieved the shoulder pain in all patients.
Magnetic resonance (MR) images of seven hips were reviewed in six patients with transient osteoporosis of the hip. The MR images of the affected joint showed increased joint fluid and diffuse signal abnormalities in the marrow of the femoral head, corresponding to a decreased signal intensity on T1-weighted images and an increased signal intensity on T2-weighted images. The MR images at the time of clinical improvement showed regression of the abnormalities. These MR abnormalities reflect the pathophysiology of this condition.
Eighteen patients with the predisposing factors for aseptic necrosis of the femoral head were followed up for more than two years after the initial magnetic resonance (MR) imaging. At the time of the initial examination, 24 femoral heads showed abnormal low-intensity areas on MR images without abnormal findings on plain radiographs. Among them, six femoral heads collapsed in the follow-up period. The initial mid-coronal T1-weighted MR images of these femoral heads had shown characteristic findings, that is, band-shaped low-intensity areas with the lateral end not covered by the acetabulum. Subchondral fracture of the femoral head occurred in the vicinity of the lateral end of the band. The findings of initial MR imaging seem to predict subsequent collapse of the femoral head.
Tl-weighted MR images of thirty-six hips in 25 patients with avascular necrosis of the femoral head were obtained two to five times during the course of 2 to 26 months. We investigated these MR images in the light of the chronological change and compared them with plain radiographs. MR images change in 16 femoral heads; in general, the abnormal low intensity area in the femoral head reduced in extent and the internal high intensity area became smaller of disappeared. Thirteen femoral heads among them became more flattened on plain radiographs in the same period. It is noted that four different zones are defined in the femoral head after bone necrosis takes place: the dead bone marrow, the dead marrow which still contains fat, the reactive interface and the hyperemic bone marrow. In Tl-weighted MR images, the dead bone marrow, the reactive interface and the hyperemic bone marrow are demonstrated as low intensity area, while the dead marrow containing fat may remain high in intensity. On the basis of this knowledge of histopathology and MR images of this disease, we suggest that reduction of the abnormal low intensity area and disappearance of the internal high intensity area on MR images can be regarded as diminution of hyperemia in the living bone marrow and loss of fat in the dead bone marrow, respectively.
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T1 and T2 weighted MR images were compared in 32 hips with avascular necrosis, and the difference between them was discussed. In 27 of 32 hips, abnormal low intensity area in the affected femoral head is smaller in T2 weighted images than in T1 weighted images. The area of low intensity on T1 weighted image and high on T2 weighted image might be granuloma in reactive tissue and surrounding hyperemia. The difference between T1 and T2 weighted images must be taken into consideration especially in determination of the border of affected bone.