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Biomedical subjects

A Masakawa

Publications and source records attributed to A Masakawa.

8 recordsLinked to original sources

Brainstem schwannoma--case report.

A 68-year-old female presented with rare brainstem schwannoma manifesting as right hemiparesis, diplopia, and dysphagia. Neuroimaging revealed a lesion in the pons and cerebral peduncle, which was supposed to be a highly malignant glioma. The mass was approached via a single-flap orbitozygomatic craniotomy through an anteromedial pericavernous approach. Intraoperative frozen-section specimens indicated glioma, but the tumor was distinct from the surrounding parenchyma, and could be removed successfully. A tumor capsule was found and also removed. Postoperative histological, immunohistochemical, and ultrastructural examinations confirmed the diagnosis of benign schwannoma. Most schwannomas, even in the brainstem, are benign and complete removal may be curative.

Aged↗

Interaction of insulin-like growth factor I/somatomedin-C with cultured rat chondrocytes: receptor binding and internalization.

We have characterized the interaction of insulin-like growth factor I/somatomedin C (IGF-I/Sm-C) with its plasma membrane receptors on cultured rat chondrocytes. Our studies have demonstrated that [125I]IGF-I/Sm-C binding to these receptors is a relatively specific, reversible, and time-, temperature-, pH-, and concentration-dependent process. Insulin displaces [125I]IGF-I/Sm-C from its receptors on rat chondrocytes, but with a potency only 10(-4) that of IGF (I and II). Using the known lysosomotropic agents chloroquine and ammonium chloride as well as the substituted diamine monodansylcadaverine, we have shown that this 125I-labeled Sm is internalized and partially degraded via the lysosomal pathway. These conclusions have been further supported by photoaffinity labeling studies which, surprisingly, demonstrate that the predominant IGF receptor on chondrocytes is the type II receptor, and that [125I]IGF-I/Sm-C is bound primarily in this ligand-receptor complex which is internalized and degraded, in part, by lysosomes.

Ammonium Chloride↗

Dermatoglyphic abnormalities in the fetal alcohol syndrome.

Dermatoglyphics of 19 male and 23 female patients with fetal alcohol syndrome were compared with those of matched controls. Both male and female patients differed in several of the dermatoglyphic characteristics from their sex-matched controls. The abnormalities of dermatoglyphics reported here constitute a valuable marker trait of the teratogenic effect of the alcohol on fetal development and provide additional diagnostic signs for the fetal alcohol syndrome.

Black People↗

The SC phocomelia syndrome: report of two cases with cytogenetic abnormality.

We report two sibs with the SC phocomelia syndrome with typical facial appearance and bilateral absence or extreme hypoplasia of the fibula, radius, and thumb. One sib had bilateral humero-ulnar and femoro-tibial synostosis (absence of the elbow and knee joints). Application of the nosologic criteria of Herrmann and Opitz showed that there was no significant intrafamilial variation in phenotype. Chromosome analyses in both patients showed heterochromatic puffing and centromere separation involving many chromosomes, an observation that has previously been reported in patients with SC phocomelia and Roberts syndromes. More important, this finding will have significance in prenatal detection of a certain proportion of cases with these syndromes without resorting to the use of radiographic examinations.

Adolescent↗

Renal anomalies in fetal alcohol syndrome.

Six patients with fetal alcohol syndrome were found to have developmental abnormalities of the kidney. In only one patient was investigation for renal pathology made in the absence of clinical indication. Two had palpable masses in the left upper quadrant, one had pyelonephritis, one had painless hematuria, and the fifth patient had symptomatology suggestive of renal failure. Although the renal pathology was not of the same type in all cases, it is of interest that four patients had either unilateral or bilateral renal hypoplasia.

Abnormalities, Multiple↗

Trisomy 9 syndrome.

An infant is described with multiple congenital anomalies associated with mosaic trisomy 9. Review of the three previously reported cases of trisomy 9 shows that these patients have several common features which make trisomy 9 a clinically distinct syndrome. The frequently encountered findings are: upward-slanted eyes, small palpebral fissures, enophthalmos or microphthalmos, broad base and prominent tip of the nose, microcephaly, micrognathia, low-set malformed ears, high-arched palate, congenital heart disease, skeletal and genito-urinary anomalies, abnormal palmar creases, failure to thrive, hypotonia and retardation.

Abnormalities, Multiple↗