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Biomedical subjects

M Osawa

Publications and source records attributed to M Osawa.

At least 55 records · Page 3Linked to original sources

D-bifunctional protein deficiency with fetal ascites, polyhydramnios, and contractures of hands and toes.

Fetal abnormalities including chylous ascites, polyhydramnios, claw hands, and hammer toes were identified in an infant who had a missense mutation R106P and a 52bp deletion in the gene for a peroxisomal beta-oxidation enzyme, D-3-hydroxyacyl-CoA dehydratase/D-3-hydroxyacyl-CoA dehydrogenase, D-bifunctional protein. The patient had psychomotor retardation and craniofacial dysmorphism and died at 7 months of age. The patient had atypical fetal manifestations of this enzyme deficiency.

17-Hydroxysteroid Dehydrogenases↗

Molecular cloning of delta-4, a new mouse and human Notch ligand.

Complementary DNAs encoding a previously unidentified mouse Notch ligand and its human ortholog were isolated. The new Notch ligand contains a signal sequence, a DSL domain, eight epidermal growth factor-like repeats, a transmembrane domain, and an intracellular region, all of which are characteristics of members of the Delta protein family. The new protein was therefore designated Delta-4. Several previously unidentified sequences in both the extracellular and intracellular regions were shown to be conserved among vertebrate Delta proteins. The tissue distribution of Delta-4 mRNA resembles that previously described for Notch-4 (Int-3) transcripts. However, in situ hybridization with mouse lung revealed that Delta-4 mRNA is abundant in squamous alveolar cells that neighbor endothelial cells; Notch-4 expression is largely restricted to the latter cell type. Soluble forms of the extracellular portion of Delta-4 inhibit the apparent proliferation of human aortic endothelial cells, but not human pulmonary arterial endothelial cells.

Adaptor Proteins, Signal Transducing↗

Is PECAM-1 a mechanoresponsive molecule?

Endothelial cells are capable of responding to fluid shear stress, but the molecular mechanism for this biological response remains largely unknown. Our studies indicate that the cell-cell adhesion site is a possible site of flow sensing. PECAM-1, a cell adhesion molecule localized to the interendothelial cell adhesion site, is tyrosine-phosphorylated when endothelial cells are exposed to physiological levels of fluid shear stress. This PE-CAM-1 phosphorylation initiates a signaling cascade leading to ERK activation. Here we review what is known about PECAM-1 tyrosine phosphorylation and suggest a possible role of PECAM-1 in mechanosensing by endothelial cells.

Animals↗

Leiomyosarcoma of the larynx: emergency tracheostomy.

Leiomyosarcoma of the larynx is extremely rare. Histological diagnosis for excluding other tumours remains extremely difficult. A rare case of leiomyosarcoma of the larynx, treated by surgery and radiotherapy, is reported. We discuss the clinical presentation, diagnosis, and treatment of leiomysarcoma with a review of the literature.

Aged↗

Gelastic seizures in clusters in a case of West syndrome after perinatal hypothalamic hemorrhage.

We describe a 4-month-old Japanese infant with West syndrome with gelastic seizures in clusters. Smile developed around 3 months and gradually increased in frequency and intensity. Positron emission tomography showed hypoperfusion in bilateral hypothalamus. Interictal electroencephalogram (EEG) showed hypsarrythmia. Simultaneous video/EEG monitoring was performed. At first, a smile-like episode developed every several seconds, gradually increased to an abrupt flexion of the neck and extremities, and gradually decreased to a smile-like episode at the end. Ictal EEG revealed desynchronization. ACTH was effective. Smiles are common emotional responses in infancy. However, EEG and neuroimaging should be considered in a case of perinatal asphyxia and delayed development.

Asphyxia Neonatorum↗

Human chorionic gonadotropin (hCG) beta-core fragment is produced by degradation of hCG or free hCG beta in gestational trophoblastic tumors: a possible marker for early detection of persistent postmolar gestational trophoblastic disease.

The present study was undertaken to investigate whether human chorionic gonadotropin (hCG) beta-core fragment (hCG beta cf) was directly produced by gestational trophoblastic tumors. Immunoreactivity of hCG beta cf was demonstrated in the extracts as well as in the culture media of hydatidiform mole tissues. It was also present in the extracts of choriocarcinoma tissues, and its molar concentration exceeded that of intact hCG. The presence of hCG beta cf was then confirmed by gel chromatography and Western blot analysis. Immunohistochemistry showed localization of hCG beta cf immunoreactivity to the syncytiotrophoblasts and scattered cells in the stroma of mole tissue, and to syncytiotrophoblastic cells in choriocarcinoma. Immunoreactivity of hCG beta cf was also detected in the sera of the patients with gestational trophoblastic disease, although the hCG beta cf/hCG ratio was less than one hundredth of that in the tissue extracts. Serial measurement of serum hCG beta cf levels after mole evacuation showed that they declined much more rapidly than those of hCG and became undetectable in the patients with subsequent spontaneous resolution, while hCG beta cf remained or became detectable before the rise of hCG was observed in the patients with subsequent persistent trophoblastic disease. Taken together, these results suggest that hCG beta cf is directly produced by gestational trophoblastic tumors, and monitoring of hCG beta cf in the serum after mole evacuation may be useful for early prediction of subsequent development of postmolar persistent trophoblastic disease.

Animals↗

A new distinctive species of pagurid hermit crab (Crustacea: Decapoda: Anomura) from Japan.

A new species of pagurid hermit crab, Pagurus decimbranchiae, is described and illustrated based on 20 specimens collected from shallow waters of the Pacific coast of Japan ranging from Boso Peninsula to Tanegashima Island. It is quite distinctive in having the rudimentary arthrobranch on the third maxilliped represented by a single bud, however close morphological similarity is found between the new species and P. moluccensis Haig and Ball. Comparisons are also made among other species, including P. boriaustraliensis Morgan, P. sp. cf. boriaustraliensis sensu Rahayu and Komai (2000) and the members of the P. anachoretus group. The present generic assignment of the new species should be considered provisional, as more extensive study is needed to investigate phylogenetic relationships of the new species and the other species of Pagurus.

Animals↗

Hypopituitarism due to pituitary metastasis of lung cancer: case of a 21-year-old man.

A 21-year-old man presented persistent dry cough, general malaise, loss of appetite, decreased sexual desire and double vision. Chest radiograph revealed a mass shadow in the left upper lobe. Histopathological diagnosis of the tumor was squamous cell carcinoma. Brain computed tomography and magnetic resonance imaging revealed a metastasis to the pituitary gland. Hypopituitarism was diagnosed by pituitary function tests. Diabetes insipidus was absent and the function of the posterior lobe of the pituitary gland was preserved. Hypopituitarism due to pituitary metastasis is a rare complication of lung cancer, and has never been reported in a patient as young as 21 years old.

Adult↗

Efficacy of transthoracic needle aspiration in community-acquired pneumonia.

OBJECTIVE: To evaluate the indications, efficacy, and safety of transthoracic needle aspiration (TNA) in diagnosing community-acquired pneumonia (CAP). METHODS: TNA procedure was performed using an ultrathin needle with ultrasonography and/or computed tomography. The aspirate samples were Gram-stained and sent for cultures. The results were compared with those from conventional microbiological studies. PATIENTS: Sixty patients with CAP who were admitted to the hospital and were studied prospectively between July 1994 and June 1999 were included in the study. RESULTS: TNA culture was positive in 30 cases (50.0%). Streptococcus pneumoniae was the most frequently isolated pathogen, followed by the Streptococcus milleri group, and anaerobes. The results of TNA were consistent with those of quantitative sputum cultures in 9 patients and with those of blood cultures in 4. Complications arose in 3 patients who developed small to moderate pneumothorax. CONCLUSIONS: TNA is a safe procedure with a good diagnostic yield. In particular, anaerobes or microaerophils such as the S. milleri group were highly detectable by TNA. The results obtained by TNA were highly consistent with those obtained by the gold standard methods. Combined with conventional methods, TNA is considered highly useful for determining the etiology of CAP.

Adult↗

[Clinical comparison of Chlamydia pneumoniae pneumonia, ornithosis, and Mycoplasma pneumoniae pneumonia].

To elucidate the differences between the clinical aspects of Chlamydia pneumoniae (C. pn) pneumonia and those of two other atypical pneumonias, Chlamydia psittaci (C. ps) pneumonia and Mycoplasma pneumoniae (M. pn) pneumonia, we analyzed the symptoms and laboratory data on the cases of these three types of pneumonia: 46 cases of C. pn pneumonia, 39 cases of C. ps pneumonia, and 131 cases of M. pn pneumonia. C. pn pneumonia was significantly more frequent among the elderly (mean 70 +/- 16 years, p < 0.01) and patients were significantly more likely to be male (76%, p < 0.05). A white blood cell count of over 10,000 was seen in 46% of C. pn pneumonia cases, a higher proportion than those of C. ps pneumonia (15%, p = 0.03) or M. pn pneumonia (18%, p = 0.006) cases. The proportions of patients with these infections who had an elevated GOT or GPT were not significantly different. Maximum body temperature was higher in M. pn pneumonia than in C. pn pneumonia (p = 0.003). Purulent sputa were seen in 44% of C. pn pneumonia cases and 50% of M. pn pneumonia cases, and these rates were higher than that of 13% in C. ps pneumonia cases (p = 0.002, p = 0.004). Dyspnea and anorexia symptoms were the most frequent in C. pn pneumonia cases (24% and 29%, respectively, the highest of all three pneumonias). There were clinical differences between C. pn pneumonia and the other two atypical pneumonias. However, there was some difficulty in differentiating between C. pn pneumonia and typical bacterial pneumonia because mixed infections were common (24%) in C. pn pneumonia cases.

Adult↗

[Clinical study on epileptic aura in children with temporal lobe epilepsy].

We studied the clinical characteristics of epileptic aura with temporal lobe epilepsy (TLE) in children, by retrospectively reviewing medical records of 33 patients whose first seizures developed under 15 years of age. The diagnosis of TLE was made by interictal EEG and head MRI/SPECT, both of which demonstrated a temporal lesion. The patients were classified into 24 with mesial TLE syndrome, 3 with a temporal lobe tumor, 3 with temporal lobe dysplasia and 3 with other causes. The epileptic aura was not recognized in 5 patients (15%). The age at onset of aura ranged from 4 to 10 years with a median age at 7. In patients older than 10, it was always followed by impairment of consciousness. It was manifested with nausea in 14 patients (42%), vertigo, a sense of fear, palpitation and heating sensation on the back in three patients (9%) each. Thus, clinical manifestations of epileptic aura in children with TLE were largely identical to those of adult patients. Detailed history taking about the aura may provide a clue to the diagnosis of TLE even in children.

Adolescent↗

[Clinically useful event-related potentials].

For clinical use of event-related potentials (ERPs), issues to be solved included individual variations in their latencies and amplitudes, inconsistencies in the abnormalities of these parameters in dementia patients among research institutes, etc. In normal groups, variations in the latency and amplitude of P300 (P3), a representative ERP component, can be resolved by the standardization of several of its biological determinants. The determinants included 1) natural factors, e.g. circadian rhythm, the season, 2) induced factors, e.g. exercise, fatigue, drugs, and 3) constitutional factors, e.g. age, sex. The inconsistency of data among dementia patients is mostly due to differences in the severity or stage of dementia. However, clinically the most important issue is to develop an ERP test to identify mild cognitive dysfunction at an early stage of dementia, which differs from that at an advanced stage. For example, in familial Alzheimer's disease, a test for verbal memory is reported to be the most sensitive. On the other hand, mismatch negativity, one of the early ERP components, is a pre-attentive automatic response to changes in auditory stimuli. Since this component can be evoked without any attention or task, one of its advantages is that it can be recorded in infants or small children, or in demented or comatose patients. Other clinically useful ERP components are also introduced.

Cognition Disorders↗

Hematopoietic stem cells express Tie-2 receptor in the murine fetal liver.

Tie-2 receptor tyrosine kinase expressed in endothelial and hematopoietic cells is believed to play a role in both angiogenesis and hematopoiesis during development of the mouse embryo. This article addressed whether Tie-2 is expressed on fetal liver hematopoietic stem cells (HSCs) at day 14 of gestation. With the use of anti-Tie-2 monoclonal antibody, its expression was detected in approximately 7% of an HSC population of Kit-positive, Sca-1-positive, lineage-negative or -low, and AA4.1-positive (KSLA) cells. These Tie-2-positive KSLA (T(+) KSLA) cells represent 0.01% to 0.02% of fetal liver cells. In vitro colony and in vivo competitive repopulation assays were performed for T(+) KSLA cells and Tie-2-negative KSLA (T(-) KSLA) cells. In the presence of stem cell factor, interleukin-3, and erythropoietin, 80% of T(+) KSLA cells formed colonies in vitro, compared with 40% of T(-) KSLA cells. Long-term multilineage repopulating cells were detected in T(+) KSLA cells, but not in T(-) KSLA cells. An in vivo limiting dilution analysis revealed that at least 1 of 8 T(+) KSLA cells were such repopulating cells. The successful secondary transplantation initiated with a limited number of T(+) KSLA cells suggests that these cells have self-renewal potential. In addition, engraftment of T(+) KSLA cells in conditioned newborn mice indicates that these HSCs can be adapted equally by the adult and newborn hematopoietic environments. The data suggest that T(+) KSLA cells represent HSCs in the murine fetal liver. (Blood. 2000;96:3757-3762)

Animals↗

Molecular cloning and chromosomal mapping of a novel five-span transmembrane protein gene, M83.

In an attempt to identify novel transmembrane molecules expressed on hematopoietic cells, we identified a novel transmembrane protein gene, M83. Cloning of the full-length cDNAs of human and mouse M83 revealed that M83 encodes a type I transmembrane protein with a region containing five hydrophobic segments within the C-terminal part of the protein, suggesting that M83 is a five-span transmembrane molecule. The M83 protein was expressed on the cell surface as a glycosylated protein with a molecular mass of 84 kDa. The M83 gene was localized to human chromosome 16p13.3, mouse chromosome 17B1, and rat chromosome 10q12.3 distal. In human, M83 mRNA was highly expressed in placenta, pancreas, and lymphohematopoietic tissues including peripheral blood, spleen, and bone marrow. Among hematopoietic cells, it was highly expressed in resting T lymphocytes and was downregulated by cell activation, suggestive of its biological role related to the T cell resting status.

Amino Acid Sequence↗

Haplotype-phenotype correlation in Fukuyama congenital muscular dystrophy.

In typical Fukuyama congenital muscular dystrophy (FCMD), peak motor function is usually only unassisted sitting or sliding on the buttocks, though a few patients are able to walk at some point. However, a few patients have a severe phenotype and never acquire head control. In addition, it is clinically difficult to differentiate this severe FCMD from Walker-Warburg syndrome (WWS) or from muscle-eye-brain disease (MEBD). In order to establish a genotype-phenotype correlation, we performed haplotype analysis using microsatellite markers closest to the FCMD gene (FCMD) in 56 Japanese FCMD families, including 35 families whose children were diagnosed as FCMD with the typical phenotype, 12 families with a mild phenotype, and 9 families with a severe phenotype. Of the 12 propositi with the mild phenotype, 8 could walk and the other 4 could stand with support; 10 cases were homozygous for the ancestral founder (A-F) haplotype whereas the other 2 were heterozygous for the haplotype. In the 9 severe cases, who had never acquired head control or the ability to sit without support, 3 had progressive hydrocephalus, 2 required a shunt operation, and 7 had ophthalmological abnormalities. Haplotype analysis showed that 8 of the 9 cases of the severe phenotype are heterozygous for the A-F haplotype, and the other one homozygous for the haplotype. We confirmed that at least one chromosome in each of the 56 FCMD patients has the A-F haplotype. The rate of heterozygosity for the A-F haplotypes was significantly higher in severe cases than in typical or mild cases (P < 0.005). Severe FCMD patients appeared to be compound heterozygotes for the founder mutation and another mutation. Thus, the present study yielded molecular genetic evidence of a broad clinical spectrum in FCMD.

Brain↗