Case report of tetrasomy 18p in a girl.
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Biomedical subjects
Publications and source records attributed to K Nihei.
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The sacral segments of the spinal cord in 15 cases of amyotrophic lateral sclerosis and 7 control cases were investigated using peptides immunocytochemistry. A rich supply of somatostatin-, enkephalin- and substance P-immunoreactive fibers and terminals were found in common with the intermediolateral cell column in Onuf's nucleus, but not with the motor neurons in ventral horn. Furthermore, there was no significant difference with peptides innervation between ALS and control cases. Onuf's nucleus, though located in the ventral horn of the upper sacral segment, has a rich supply of peptidergic innervation which suggests that this nucleus does not represent merely somatic motor neurons, but also represents autonomic neurons. This may be related to sparing of Onuf's nucleus along with the autonomic sacral intermediolateral nucleus in ALS.
A total of 151 cases of subacute sclerosing panencephalitis (SSPE), comprising 89 cases treated with MND-19 (Inosiplex) and 62 untreated cases, were retrospectively investigated as to background characteristics, survival rate and clinical course in order to compare the findings in the 2 groups of cases. The survival rate for the cases treated with MND-19 (MND-19-treated group) was significantly higher than that for the untreated cases (control group), which was also true on stratified analysis or on smoothing of the background factors by means of Cox's multiple regression model. Investigation of the clinical course revealed that progression through the disease stages was significantly slow in the MND-19-treated group, compared with in the control group. Global rating of the clinical course showed that a prolonged remission was obtained in more MND-19-treated cases than control cases. The measles virus antibody titer was in no way affected in the former group. Side effects of MND-19 were observed in 17 of the 89 treated cases (19.1%).
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A case of perineal Paget's disease in a 67-year-old male patient is reported. The perineal polyp, having shown no increase in size for 3 years, wks resected. The microscopic features of the polyp was comprised of clusters of a pale, large tumor cell (Paget cell) only in the epidermis. The skin that was resected around the polyp showed almost the same histological appearance as the polyp, except for an infiltration of tumor cells forming a small gland structure on the minimal region of the dermis. Both the Paget's cells and these tumor cells showed positive for mucin staining. Ultrastructurally, we confirmed two types of Paget's cells, one containing much granules and the other lacking in these granules but rich in other organelles. Further, the Paget's cells formed lumen and intercellular canaliculus, suggesting a differentiation to the eccrine sweat gland. From our findings and a review of the literature, we favor presuming that extramammary Paget's disease without a cancer of the neighbouring organs originates from the epidermis and extends to the dermis.
A 59-year-old man was hospitalized for rectal bleeding. Barium enema and proctoscopy revealed an elevated tumor, completely stenosing the rectum. The microscopic features of the specimens obtained by proctoscopic biopsy of the tumor comprised aggregations of histiocytes with intracytoplasmic inclusions (von Hansemann cells and Michaelis-Gutmann bodies). Rectal malacoplakia was diagnosed. In the course of laparotomy, the tumor was found to be strongly infiltrated to the pelvis. Thus, radical surgery was not performed, and an artificial anus was made. Excisional biopsy from the tumor tissue revealed the features of well-differentiated adenocarcinoma and malacoplakia. Forty-three cases of malacoplakia of the gastrointestinal tract from a review of the literature including ours were collected and discussed.
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The effect of cisplatin on the auditory nervous system was examined in five children using brainstem auditory evoked potentials (BAEPs). The cases comprized of two neuroblastoma, one yolk sac tumor one neurofibrosarcoma and one Hodgkin's disease. All patients except for one infant aged eight months showed a normal audiogram in the pre-treatment examination. Cisplatin was administered at a dose of 75-105 mg/m2 (body surface area). BAEP tests were performed after cisplatin treatment from two weeks to 20 months. The patients were tested at rest in bed using stimulation with a 3 KHz, 80-dBHL click at 150-msec intervals 2,000 times. Four cases showed an abnormal BAEP pattern in the post-treatment examination. Two of them showed not only delayed conduction velocity of the first wave but also auditory disturbance, but these findings were improved after discontinuation of drug administration. We concluded that cisplatin frequently affects the auditory nervous system, and that this disturbance might be transient in the early stage.
One of the opioid precursor molecules, pre-pro-enkephalin A, contains within it, in addition to Leu-enkephalin (Leu-Enk) and Met-enkephalin (Met-Enk), Met-enkephalin-Arg6-Gly7-Leu8 (Met-Enk-8), which is specific to this precursor. This study deals with the localization of Met-Enk-8-like immunoreactivity in the gastrointestinal tract of rat and pig. Immunoreactivity was identified in intramural nerve elements of rat and pig, and in gut endocrine cells of pig. Immunoreactive (IR) nerve fibers were seen mainly in the myenteric plexus of rat and in both the myenteric and submucosal plexuses of pig. Some IR fibers were dispersed throughout the lamina propria mucosae of rat. Porcine IR endocrine cells were dispersed in the epithelium from the pyloric antrum to the ileum, existing concomitantly with enterochromaffin (EC) cells. Specificity tests revealed that immunoreactivity to Met-Enk-8 antiserum was not influenced by preincubation of the antiserum with Leu-Enk and Met-Enk. This suggests the possibility that pre-pro-enkephalin A is contained in the gastroenteric nerves of rat and pig and in a population of porcine EC cells.
Tumor forming acute promyelocytic leukemia (APL) is rare and only three cases have been documented. However, there are no reports on either the chloromatous character or electron microscopical analysis. The present paper dealt with a light, electron microscopic and histochemical study of the tumor of APL in a 55-year-old Japanese male. The tumors found in the anterior mediastinum and right lower extremity. He died from respiratory disturbance and hydrothorax due to obstruction of the pulmonary truncus by the mediastinal tumor. In electron microscopy, the tumor cells showed dilatation, colloracious pattern and honey-comb-like structure of rough endoplasmic reticula (RER) and parallel array-arrangement of smooth endoplasmic reticula (SER). These abnormalities of ER are the same as those recently recognized in leukemic cells in APL. Furthermore, the intercellular junctions composed of opposing dense patches of the cytoplasmic plasmalemma were frequently found between the more immature tumor cell of the mediastinum.
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An autopsied case of malignant fibrous histiocytoma (MFH) in the left atrium of the heart of a 29-year-old Japanese woman was reported light and electron microscopically, and immunohistochemically. Metastasis was found in the adrenal, jejunum, and cervical regions. This is the fourth case of MFH of the heart in the literature. The tumor consisted of undifferentiated mesenchymal cells and histiocytoid cells, including giant cells and xanthomatous cells. Dense patches were commonly detected in all tumor cells. On frozen sections, histiocytoid cells formed EA and EAC rosettes, while fibroblastic cells formed EA rosettes only. Difference between them was also recognized in activity or amount of marker enzymes of histiocytes. These analyses suggested that MFH is a mesenchymal cell tumor with binary differentiation into histiocytoid cells and fibroblastic cells.
A male infant, who was suspected to be a case of variant form of maple syrup urine disease (MSUD) has been given dietary treatment since the age of 9 months. Prior to the treatment, computed tomography (CT) showed abnormally high lucidity in the cerebral white matter area with the marked narrowness in size of the frontal horn of lateral ventricles. As the treatment proceeded, clinical symptoms alleviated, and CT findings have gradually changed with the result of improved density of the white matter. 2 months after starting the treatment, however, the patient suddenly developed a hyperaminoacidemic crisis that lasted 4-5 days. Despite this hyperaminoacidemia, CT scan taken during the crisis have revealed unexpectedly normal lucidity of the white matter as well as the normal width of the frontal horn. From these findings it was concluded that markedly lucent area in CT findings prior to the treatment was not due to an acute change in serum aminoacid concentration, but rather to chronic brain edema which had insidiously and gradually developed.
Histiocytosis X of the stomach of a 47-year-old Japanese woman, who underwent subtotal gastrectomy following a clinical diagnosis of scirrhous carcinoma, was studied by light and electron microscopy as well as by immunohistochemistry. The histiocytoid cells proliferated monotonously in the lamina propria mucosae of the atrophied mucosa covering the body and fornix. They were arranged in a sheet- or pavement stone-pattern and included some giant cells. The histiocytoid cells had a reniform to irregularly indented nucleus and conspicuous cytoplasm. Ultrastructurally, they were characterized by interdigitating cytoplasmic extensions and abundant tubulovesicular structures including Langerhans granules. S-100 protein, alpha 1-antitrypsin, and alpha 1-antichymotrypsin were immunohistochemically identified in the cytoplasm. Endoscopic biopsies of the extragastric digestive tract, a biopsy of the lymph node, and bone marrow aspiration excluded a systemic disorder. The case is regarded as benign localized histiocytosis X of the stomach, a previously undescribed gastric lesion.
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The primary structure of the membranous segment of rabbit liver cytochrome b5 has been determined to be as follows: (Formula: see text), New methods were developed for the separation of peptide fragments. These methods, which are particularly useful for work with hydrophobic peptides, involved gel permeation chromatography and reverse phase high performance liquid chromatography (HPLC) using ethanol/formic acid mixtures. Sequences of the purified fragments were determined by automated sequence analysis.
An unique myopathy described by Ullrich in 1930 was reported in a 4-year-old Japanese boy. Major clinical findings included proximal joint contracture, muscle hypotonia, prominent calcaneus, high-arched palate, and normal intelli gence. Muscle biopsy showed rather small muscle fivers with variations in size and proliferation of connective tissue. A review of 15 cases in the literature revealed this type of myopathy as a distinctive entity to be classified as a myopathic arthrogryposis multiplex congenita, rather than in the group of muscular dystrophies.