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Biomedical subjects

M Kimizuka

Publications and source records attributed to M Kimizuka.

16 recordsLinked to original sources
PubMed2000

Novel and recurrent EBP mutations in X-linked dominant chondrodysplasia punctata.

Chondrodysplasia punctata (CDP) is a heterogeneous group of skeletal dysplasias characterized by stippled epiphyses. A subtype of CDP, X-linked dominant chondrodysplasia punctata (CDPX2), known also as Conradi-Hünermann-Happle syndrome, is a rare skeletal dysplasia characterized by short stature, craniofacial defects, cataracts, ichthyosis, coarse hair, and alopecia. The cause of CDPX2 was unknown until recent identification of mutations in the gene encoding Delta(8),Delta(7) sterol isomerase emopamil-binding protein (EBP). Twelve different EBP mutations have been reported in 14 patients with CDPX2 or unclassified CDP, but with no evidence of correlation between phenotype and nature of the mutation. To characterize additional mutations and investigate possible phenotype-genotype correlation, we sequenced the entire EBP gene in 8 Japanese individuals with CDP; 5 of them presented with a CDPX2 phenotypes. We found EBP mutations in all 5 CDPX2 individuals, but none in non-CDPX2 individuals. Three of these CDPX2 individuals carried novel nonsense mutations in EBPand the other two, separate missense mutations that had been reported also in different ethnic groups. Our results, combined with previous information, suggest all EBP mutations that produce truncated proteins result in typical CDPX2, whereas the phenotypes resulted from missense mutations are not always typical for CDPX2. Patients with nonsense mutations showed abnormal sterol profiles consistent with a defect in Delta(8), Delta(7) sterol isomerase. X-inactivation patterns of the patients showed no skewing, an observation that supports the assumption that inactivation of the EBP gene occurs at random in affected individuals.

Adolescent↗
PubMed2000

Energy expenditure of diplegic ambulation using flexible plastic ankle foot orthoses.

In order to determine whether flexible plastic ankle foot orthoses (AFOs) really have functional advantage for children with spastic diplegia (CP children). Six CP children (13.2 +/- 1.9 years) who showed moderate spasticity walked on a treadmill at relative speeds that ranged from slow to fast for three minutes at each speed. While walking with and without flexible plastic AFOs, oxygen uptake (VO2) was measured. Then an energy expenditure index (EEI) was calculated by taking the VO2 value divided by walking speed. A curve EEI-walking speed relationship was approximated to a parabolic curve. Then, the lowest value of EEI, as an economical EEI, was derived from the curve. In four of the six CP children, the EEI while walking with flexible plastic AFOs were larger than without flexible plastic AFOs. The economical EEI while walking with and without flexible plastic AFOs was 0.56 +/- 0.26 ml/kg/m and 0.42 +/- 0.14 ml/kg/m, respectively. The ambulation with flexible plastic AFOs required more energy than without flexible plastic AFOs (p < 0.05). From these results, flexible plastic AFOs do not seem to provide a functional advantage for CP children.

Adolescent↗
PubMed1999

Ischio-spinal dysostosis: a previously unrecognised combination of malformations.

BACKGROUND: Ischial hypoplasia is an extremely rare malformation, both as an isolated anomaly and as a syndromic constituent. OBJECTIVE: To elucidate the clinical and radiological characteristics in five patients with the combination of ischial hypoplasia and spinal malformations. MATERIALS AND METHODS: The clinical records and radiographs of two females and three males, ranging in age from 3 months to 38 years, were evaluated. RESULTS: Ossification defects of the ischial rami were symmetrical and total in four patients, whereas the right ischial ramus was partly ossified in the other patient. All patients possessed multiple segmental defects of the spine, with rib anomalies of varying severity. One patient characteristically showed multiple rib gaps, resulting in respiratory distress. Severe anomalies of the cervical spine were evident in two patients. Four patients exhibited lumbosacral hypoplasia, which ultimately led to cauda equina syndrome in three older patients. One patient had mild facial dysmorphism and another had a diversity of anomalies, including ichthyosiform skin changes. Four patients were sporadic cases, whereas the other patient was born to consanguineous parents. CONCLUSIONS: The combination of anomalies in these patients constitutes a recognisable pattern of malformations but may represent a heterogeneous group of disorders.

Abnormalities, Multiple↗
PubMed1999

Anaesthetic management of two paediatric patients with Hecht-Beals syndrome.

We undertook the anaesthetic management of two children with Hecht-Beals syndrome for orthopaedic surgery under general anaesthesia. Both patients had arachnodactyly, kyphoscoliosis, and multiple congenital joint contractures, but limited mandible excursion was not obvious preoperatively in either, although mental retardation made it difficult for them to cooperate with mouth examination. They had no apparent difficulties with their mouths in daily activities. The anaesthesia records of one patient showed that intubation had been difficult in an earlier procedure. The other patient also had a history of difficult intubation, with slight tearing of the corners of her mouth during an intubation procedure. During slow induction of general anaesthesia with sevoflurane, face mask ventilation was easily performed. We attempted to visualize the larynx under anaesthesia with muscle relaxation, but we were unsuccessful because of the limited mouth opening. After several trials, blind oral intubations were fortunately successful in both patients. There were no postoperative problems with the airway.

Anesthesia, General↗
PubMed1998

Novel and recurrent COMP (cartilage oligomeric matrix protein) mutations in pseudoachondroplasia and multiple epiphyseal dysplasia.

Pseudoachondroplasia (PSACH) and multiple epiphyseal dysplasia (MED) are common skeletal dysplasias with impaired enchondral ossification and premature degenerative joint disease. The two disorders were in the past considered to be distinct clinical entities; however, recent studies have proven that both diseases can result from mutations of the gene encoding cartilage oligomeric matrix protein (COMP). To characterize further COMP mutations and investigate phenotype-genotype relationships, we screened this gene in 15 patients with PSACH or MED by directly sequencing polymerase chain reaction products from genomic DNA. We identified ten mutations involving conserved residues among the eight calmodulin-like repeats of the gene product: seven were novel missense mutations in exons 9, 10, 11, 13 or 14, and the other three resulted from deletion of one of the five GAC repeats in exon 13. We have found that the GAC repeats in the 7th calmodulin-like repeat in exon 13 represent a hot-spot for mutation, and that mutations in the 7th calmodulin-like repeat produce severe PSACH phenotypes while mutations elsewhere in the gene exhibit mild PSACH or MED phenotypes. These genotype-phenotype correlations may facilitate molecular diagnosis and classification of PSACH and MED, and provide insight into the relationship between structure and function of the COMP gene product.

Achondroplasia↗
PubMed1998

A mild form of pseudoachondroplasia: minimal epi-metaphyseal involvement of long bones.

A problem in diagnosing pseudoachondroplasia (PSACH) is that the pathognomonic changes of vertebral bodies invariably disappear around the age of 10, and an adult case might subsequently be misdiagnosed as MED, Fairbank type, though the latter is less severe than PSACH. We present a Japanese girl (follow-up, 3-10 years of age) whose epi-metaphyseal involvement of long bones was minimal and whose height was +2 S.D. of standard for PSACH in spite of the typical changes of the vertebral bodies. She might not have been diagnosed only as PSACH but also as MED, Fairbank type, after disappearance of the typical vertebral body changes because of the apparent lack of stubby fingers. Since the overlap of PSACH and MED has recently been discussed from the viewpoint of molecular biology, study of the spectrum of clinical features of PSACH is important.

Achondroplasia↗
PubMed1998

Strain on the gastrocnemii and hamstrings affecting standing balance on an inclined plane in spastic cerebral palsy. A study using a geometric model.

The purpose of this study was to use an non-invasive method to determine whether strain on the gastrocnemii and hamstrings influences postural balance in spastic cerebral palsy (CP). Changes in alignment during standing posture with subjects positioned on a platform that was gradually inclined were measured in 10 normal children and 11 children with CP. The changes in postural alignment were plotted and geometric models used to determine the lines where the gastrocnemii and hamstrings were maximally stretched. In this way the relationship between postural alignment and the amount of strain on the gastrocnemii and hamstrings was investigated. On the inclined platform, which caused ankle joints to become dorsiflexed as the inclination angle increased, the gastrocnemii began to be strained and the hip joints began to be flexed (trunk bent forward) at the same time. In the children with CP, the gastrocnemii were more strained by smaller degrees of inclination. Furthermore, there was one child with CP whose hamstrings were also strained on the inclined platform. We confirmed that postural balance was affected by strain on the gastrocnemii and hamstrings.

Accidental Falls↗
PubMed1993

Monomelic muscle atrophy.

Two patients with slowly progressive muscle atrophy limited to only one leg are reported. They had pes equinovarus deformity and muscle weakness in the affected leg but no symptom in the other limbs. Muscle biopsies from the affected leg showed dystrophic changes consisting of variation in muscle fiber size, endomysial fibrosis, and necrotic and regenerating fibers. Dystrophin was normally expressed at the surface membrane of the muscle fibers. These two patients possibly had a variant of distal muscular dystrophy, though a neural influence could not be completely excluded.

Biopsy↗
PubMed1991

Temporal bone pathology of two infants with Larsen's syndrome.

Two infants who had multiple joint dislocations, unusual facies, and bony abnormalities, typical of the syndrome first reported by Larsen et al. (J. Pediatr., 37 (1950) 574-581) are described. This report expands Larsen's syndrome to include the following findings of temporal bone pathology. Case 1 (one year and 8 months old) showed dislocation of the malleus and incus, an abnormal foot plate, mesenchyme remaining in the attic and mesotympanum, poor development of the mastoid air cells, and poor development of the labyrinth. Case 2 (3 years and 6 months old) showed dislocation of the malleus and incus, mesenchyme remaining in the attic and mesotympanum, and an abnormal stapes. These histological findings suggest that a maldevelopment similar to that which occurs in the skeletal system occurs in the temporal bones as well as in the face and extremities including many joints.

Abnormalities, Multiple↗
PubMed1984

Soft tissue collagen in congenital dislocation of the hip. Biochemical studies of the ligamentum teres of the femur and the hip joint capsule.

Collagens of the ligamentum teres of the femur and the hip joint capsule of 14 patients with congenital dislocation of the hip (CDH) were studied biochemically. Collagen was a major component of these tissues. Solubility of collagen was reversely related to age except in two cases. Collagen of both ligamentum teres of the femur and hip joint capsule was composed of type I, III and V collagens except in three cases. In these three cases with nevus or general joint laxity, two additional collagenous components were also found. The ratios of type III collagen to type I collagen were increased in CDH except in one case with short stature. These abnormalities of collagen metabolism could be the underlying cause of CDH and other clinical symptoms in these patients.

Amino Acids↗
PubMed1980

Load-bearing pattern of the ankle joint. Contact area and pressure distribution.

The contact area of eight human talocrural joints was measured. After preparation, the talocrural joint was set into the compression machine. Under loading the casting was made by silicon rubber and the pressure distribution was measured by pressure sensor sheet. The contact area was localized at anterior and lateral parts. Under 1,500 N loading, the contact area was 522 mm2 and the maximum pressure was 9.9 MPa. Slight diastasis caused a decrease of the contact area and an increase of pressure.

Adolescent↗
PubMedDate not supplied

Retinal detachment in spondyloepiphyseal dysplasia congenita.

Retinal detachment is one of the most serious complications of spondyloepiphyseal dysplasia congenita (SEDC). The ocular complication of 12 patients with SEDC was studied. Three patients developed bilateral retinal detachments; five of the six detachments occurred during the period of rapid growth spurt. Our results suggest that patients with SEDC have an increased risk for development of retinal detachment during the period of rapid growth spurt.

Adolescent↗
PubMedDate not supplied

Recurrent dislocation of the patella in Kabuki make-up syndrome.

Three patients with Kabuki make-up syndrome (KMS) who had recurrent dislocation of the patella are reported. In all, dislocation of the patella developed in adolescence, and they had generalized ligamentous laxity and dysplasia of the patellofemoral joints. In two of the three patients, surgical intervention was required; the operation was successful in one, but yielded poor results in the other. In the third patient, cardiac complications precluded operation. Orthopedists should be aware of this possible complication when treating patients with KMS.

Abnormalities, Multiple↗
PubMedDate not supplied

Stature and severity in multiple epiphyseal dysplasia.

We investigated the stature and radiological findings in 15 patients with multiple epiphyseal dysplasia (MED). They were divided into normal-stature and short-stature groups according to their body height after 4 or 5 years of age. Their stature was not related to the involvement of the spine or epiphyses of long tubular bones except for the distal radius. Proximal phalanges and metacarpi were shorter in the short-stature group than in the normal-stature group, indicating that stature in MED had some relationship to the involvement of the wrist and hand. However, some patients in the normal-stature group showed involvement of distal radial epiphyses, and some patients in the short-stature group did not have stubby fingers. There are thus no clear-cut criteria to differentiate between the severe Fairbank type and the milder Ribbing type of MED.

Adolescent↗