Biomedical subjects

K Nagatoshi

Publications and source records attributed to K Nagatoshi.

8 recordsLinked to original sources

PubMed1992

Oculoauriculovertebral anomaly: segregation analysis.

Seventy-four families of probands with oculoauriculovertebral anomaly were evaluated, including 116 parents and 195 offspring. Relatives were examined to identify ear malformations, mandibular anomalies, and other craniofacial abnormalities. For segregation analysis using POINTER, selection of the sample was consistent with single ascertainment. Different population liabilities were used for probands and relatives, because affection was narrowly defined for probands and broadly defined for relatives. The hypothesis of no genetic transmission was rejected. The evidence favored autosomal dominant inheritance; recessive and polygenic models were not distinguishable.

Adult↗

PubMed1989

Microtia and associated anomalies: statistical analysis.

Terms such as oculoauriculovertebral dysplasia, Goldenhar syndrome, and hemifacial microsomia have been used to describe microtia with specific combinations of other craniofacial anomalies. Microtia is also observed with anomalies of postcranial structures. Statistical studies were performed on 297 patients with microtia and other anomalies to identify subgroups of patients representing previously described or new associations. Analysis identified 15 subgroups of patients with specific patterns of anomalies. Log-linear analyses of cranial and postcranial variables demonstrated a positive association between mandibular hypoplasia and cervical spine fusion, which was, in turn, positively associated with other spine anomalies (P less than .02) and other skeletal anomalies (P less than .001). Although unilateral microtia was commonly observed with mandibular hypoplasia, mandibular hypoplasia was negatively associated with bilateral microtia. Many of the associated anomalies were of structures not derived from the 1st and 2nd branchial arch neural crest. However, most associated anomalies were of structures derived from migratory cell populations or populations undergoing differentiation prior to migration between the 19th and 24th day post-fertilization (neural crest, ectodermal placode, mesoderm, surface ectoderm). These findings suggest that many different cell populations may be disturbed in the pathogenesis of microtia in association with other anomalies. The timing of the pathogenetic event may determine the specific pattern of associated anomalies.

Abnormalities, Multiple↗

PubMed1987

Oculoauriculovertebral dysplasia and variants: phenotypic characteristics of 294 patients.

Here we describe the phenotypic characteristics of a single craniofacial clinic population of 294 individuals affected with oculoauriculovertebral dysplasia (OAV) and variants. To our knowledge, this is the largest population so described in the literature. The study population was divided into five subgroups based on the presence of combinations of minimal diagnostic criteria: microtia, mandibular hypoplasia, anomalies of the cervical spine and/or epibulbar or lipodermoids. The following data were recorded: sex (M:F 191:103); race (78% Caucasian); the presence of unilateral or bilateral microtia (193 unilateral, 98 bilateral); the presence of symmetric microtia in bilateral cases (34/98); the presence of mandibular hypoplasia ipsilateral or contralateral to the microtic ear or most severely microtic ear in bilateral cases (135/137 were ipsilateral in unilateral cases, 55/62 were ipsilateral in bilateral cases); the number of individuals with no other congenital anomaly in addition to the minimal diagnostic criteria (154/294), with only one other congenital anomaly (51/294), and with two or more other congenital anomalies (89/294); and the type of other congenital anomalies. Finally, we compared our results with other studies. Findings from our study include: mandibular asymmetry should be expected in patients with unilateral or bilateral microtia; bilateral involvement is frequent in patients with microtia; other malformations are seen frequently in all subgroups; anomalies of the cervical spine are more likely to be associated with other anomalies; and other malformations are seen in all systems and should be searched for to provide optimal management.

Adolescent↗

PubMed1979

Experimental chronic lead poisoning.

In the peripheral nerve, the distal part of the nerve fibers was remarkably damaged--periaxial segmental demyelination--while the proximal part of nerve fibers was only slightly affected. In the CNS, perivascular edema of the small blood vessels and capillaries was observed in the cerebral cortex and cerebellar cortex. All endothelial cells of these blood vessels showed a high electron density with many pinocytotic vesicles and ribosomes. Following these changes, the nerve fibers adjacent to the edema were destroyed. The above-mentioned findings seem to indicate that lead induces a toxic effect on the blood vessel and produces perivascular edema in the CNS of adult animals. This may induce brain dysfunction.

Animals↗

PubMed1979

Electron-microscopical study on senile plaques in Alzheimer's disease.

The cerebral cortex taken post mortem from a case of Alzheimer's disease was examined especially with regard to the relation between blood vessels and senile plaques. Many senile plaques had central cores, composed of such matter as degenerated blood vessels and basement membranes with abundant amyloid fibrils. The components of senile plaques seemed to be degenerated neuronal and glial tissue compressed by developed basement membranes and amyloid fibrils. From this we would like to emphasize that senile plaques seem to be caused by amyloid fibrils and degenerated capillaries.

Alzheimer Disease↗

PubMed1979

The effect of hyperthyroidism induced by thyroideum siccatum on the central nervous system: an electron microscopic study.

Ten adult male rats were administered orally with thyroideum siccatum every day to produce a hyperfunctional state of thyroid hormone. They were examined electron microscopically for the fine structure of the brain. Clinically, experimental rats lost in weight, manifested a hyperactive, irritative attitude, and were in an aggressive state. Electron microscopically, the nerve cells showed a slight increase in the number of mitochondria in the frontal cortex, spiral and petaloid variation of ER in the thalamus. The specific findings in the experimental rats were variations of synapse observed in the frontal and temporal cortex, gyrus hippocampi, and thalamus, centering around the hypothalamus. They included meandering of the presynaptic membrane, formation of vacuoles by the presynaptic membrane, saccate projection of this membrane to the postsynapse, and changes in vacuoles which were torn off and fell into the dendrite. These variations occurred in the synaptic membrane and ER, probably because synthesis of the membrane had been accelerated remarkably by the action of thyroid hormones. They were considered to have brought about abnormalities to the conductive and transmission system. They seemed to be closely related with emotional disturbances and psychic symptoms, since such variations were particularly apparent in the hypothalamus.

Aggression↗

PubMed1978

Ultrastructural study of a patient with progressive dementia showing special intraplasmic inclusions in diffuse cerebral cortex. Mechanism of inclusions production.

Numerous inclusions were diffusely observed in the neurons and glial cells in the cerebral cortex of a patient with progressive dementia. These inclusions were initially produced by rough ER in the cells and gradually enlarged destroying the rough ER membranes. The nature of these inclusions was neutral mucopolysaccaride including protein histochemically. In the nuclei of the nerve cells and glial cells, some types of intranuclear virus-like inclusions were found. The first type was papova virus-like structure with high electron density measured 30--35 nm in diameter. The second type was paramyxovirus-like structure with granulo-fibrilar shape. The third type was large hexogonal core with high electron density measured 100 nm in diameter. These intranuclear virus-like bodies were not specific in the present case; however, it was speculated that intranuclear virus-like inclusions might have a deep relation to change the function of the nuclei and produced large intraplasmic inclusion bodies.

Adult↗

PubMed1977

Histopathological changes of chronic alcoholism.

The brains of six cases of chronic alcoholics without arteriosclerosis and the other diseases were examined histopathologically. The results obtained were as follows: there were chronic nerve cell sclerosis and deletion with slightly increased glial cells in the cortex of the cerebrum, hypothalamus, mamillary body, amygdal body, dentate endplate of Ammon's horn and cerebellum. Increased vascularity was observed in the cortex of the cerebrum, while no increased vascularity was found in the mamillary bodies. In many areas, widening of Virchow-Robin spaces were observed. The above-described findings were common changes in the brains in our six cases and they might have been induced by alcoholic effect on the brain tissue for a long time. Chronic nerve cell sclerosis in many areas, especially the diencephalon and limbic system, might have a deep relation to the character change of chronic alcoholics.

Adult↗