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1.
To determine element contents of auditory ossicles, the malleus and incus were removed from 27 subjects which died at the ages between 40 and 98 years old, and their elemental contents were analyzed by inductively coupled plasma atomic emission spectrometry. It was found that the relative contents (RCs) of calcium and phosphorus were very high in the malleus and incus. The RCs of calcium and phosphorus in the ossicles corresponded to one-and-a-half-fold amounts as compared with the spongy bone of human cervical vertebrae. The mass ratio of calcium per phosphorus in the ossicles was almost the same as that of crystalline calcium phosphate hydroxyapatite. Relationships between the aging and RCs of minerals and between both the sexes in the ossicle were examined. It was found that both the RCs of calcium and phosphorus in the malleus and incus were really constant at the age over 40 years old, and that there was no significant difference of the mineral contents between men and women.  相似文献   

2.
We report 2 patients with hypothalamic hamartoma associated with multiple congenital abnormalities and analyze 42 (including our own) reported cases, including our 2 cases, of hypothalamic hamartoma or hypothalamic hamartoblastoma with multiple congenital abnormalities, to understand the timing of their occurrence and clarify the prognosis. To this end, we classified them into lethal and nonlethal cases. We found poly- and syndactyly, cleft or high-arched palate and nose abnormalities to be important manifestations of this syndrome. Major organ abnormalities and CNS and endocrine abnormalities occurred frequently among the lethal cases, very likely indicative of a disturbance of embryogenesis between gestational days 34-37 and thus implicated in a negative prognosis.  相似文献   

3.
We report a male neonate with craniofacial dysmorphic features, multiple congenital anomalies and an unusual form of chondrodysplasia punctata. Radiographic examination revealed punctate epiphyses and coronal clefting of the thoracic spine. The hand radiographs showed some similarities to the brachytelephalangic type of chondrodysplasia punctata. However, the disorder did not fit well with any known entity of chondrodysplasia punctata or other condition characterized by punctate epiphyses.  相似文献   

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A newborn male infant born to consanguineous parents was found to have diffuse polymicrogyria associated with an unusual pattern of congenital anomalies including microbrachycephaly, turricephaly, blepharophimosis, microstomia with maxillary retrusion and mandibular prognathism, micropenis with cryptorchidism, camptodactyly and adducted thumbs, and a progeroid appearance. The combination of manifestations in our patient represents a unique form of polymicrogyria with congenital anomalies, probably representing a new syndrome.  相似文献   

6.
In this report we describe the experience and follow-up data in 4 patients presenting the "VACTERL-hydrocephaly association". A review of the literature and the present data show that the inheritance pattern of this association is not clear at the present time and that data on the long-term prognosis are scarse.  相似文献   

7.
OBJECTIVE: The authors' goal was to compare the size and linear density of Purkinje cells in the cerebellar vermis of subjects with and without schizophrenia. METHOD: Blocks of alcohol-fixed cerebellar vermis were dissected at autopsy from the brains of 14 elderly patients with schizophrenia and 13 elderly subjects with no history of neuropsychiatric illness. The blocks of vermis were sectioned and stained with 1% cresyl violet. The linear density and cross-sectional area of Purkinje cells were measured by using computer-assisted image analysis. The subjects with schizophrenia had been assessed with clinical rating scales within 1 year prior to death. RESULTS: The average cross-sectional areas of Purkinje cells of the patients with schizophrenia were significantly smaller (by 8.3%) than those of the subjects without neuropsychiatric illness. No difference in Purkinje cell linear density was observed between the two groups. Significant correlations were seen between Purkinje cell size and scores on the Mini-Mental State, the Brief Psychiatric Rating Scale, and the antipsychotic drug dose. CONCLUSIONS: These data indicate cerebellar involvement in schizophrenia; they are also consistent with reports of reduced neuronal size in other brain regions of patients with schizophrenia. These findings support a model of wide-spread central nervous system abnormality in schizophrenia.  相似文献   

8.
We report two cases of synchronous double primary thymoma without myasthenia gravis. These cases suggest the possibility of multicentric thymoma and confirm the validity of a complete thymectomy.  相似文献   

9.
We generated mice harboring germline mutations in which the enhancer element located 9 kb 3' of the immunoglobulin kappa light chain gene (3'E kappa) was replaced either by a single loxP site (3'E kappa delta) or by a neomycin resistance gene (3'E kappa N). Mice homozygous for the 3'E(kappa delta) mutation had substantially reduced numbers of kappa-expressing B cells and increased numbers of lambda-expressing B cells accompanied by decreased kappa versus lambda gene rearrangement. In these mutant mice, kappa expression was reduced in resting B cells, but was normal in activated B cells. The homozygous 3'E(kappa)N mutation resulted in a similar but more pronounced phenotype. Both mutations acted in cis. These studies show that the 3'E(kappa) is critical for establishing the normal kappa/lambda ratio, but is not absolutely essential for kappa gene rearrangement or, surprisingly, for normal kappa expression in activated B cells. These studies also imply the existence of additional regulatory elements that have overlapping function with the 3'E(kappa) element.  相似文献   

10.
Positive and negative symptoms are measurable characteristics that may represent core features of schizophrenia and offer a quantitative approach for studying the genetics of schizophrenia and related disorders. The Positive and Negative Syndrome Scale (PANSS) was used to assess 72 members of five families segregating schizophrenia. The study confirmed high internal reliability of PANSS scales in this sample with diverse lifetime diagnoses. Gender but not alcoholism affected scores. Schizophrenia/schizoaffective and schizophrenia spectrum disorder groups had higher mean scores for the positive and negative scales than other lifetime diagnostic groups, consistent with genetic transmission of these symptoms. Positive and negative symptom patterns did not subtype families. The results support the validity of positive and negative symptom measures as independent dimensions in familial schizophrenia.  相似文献   

11.
The hypoplastic thumb has a variety of presentations, which have been generalized into a formal classification system that has treatment implications. In most cases, the spectrum of hypoplasia has predictable deficits in terms of tendon and bone absence. The ultimate goal is always the same--to enhance usage of the radial digit. In this article, a straightforward, reliable, and reproducible surgical technique is discussed and illustrated. Pitfalls, indications, and treatment regimes also are discussed to help the physician successfully treat the child with a hypoplastic thumb.  相似文献   

12.
The effects of lesions of the cerebellum on the acquisition of heart rate (HR) conditioned responses (CRs) were examined in rats. Large lesions of the cerebellar vermis severely attenuated the acquisition of differentially conditioned bradycardic responses in restrained rats without affecting unconditioned HR responses to the tone conditioned stimuli (CSs) or the shock unconditioned stimulus/stimuli (UCS). In Exp 2, Ss were trained unrestrained, and under these conditions the CR was tachycardia in control Ss. Lesions of the vermis again severely attenuated acquisition of this CR without affecting unconditioned response (UCR) to the CSs or UCS. Bilateral lesions of the cerebellar hemispheres did not affect HR conditioning in either test procedure. The vermis of the cerebellum is an essential component of an HR conditioning circuit in the rat. The cerebellar hemispheres, which are involved in some discrete somatomotor CRs, have no essential functional contribution to HR conditioning. Results are discussed in relation to contributions from a forebrain system involved in HR conditioning and in relation to lateral cerebellar contributions to discrete somatomotor CRs. (PsycINFO Database Record (c) 2010 APA, all rights reserved)  相似文献   

13.
We present two cases of systemic lupus erythematosus (SLE) associated with both Basedow's disease and fatty liver. The first case is a 46-year-old Japanese female who was admitted because of high fever and general fatigue. She had been diagnosed as having Basedow's disease and treated with thiamazole for over 4 years. Since thiamazole-induced lupus was unlikely because of high titer anti-nuclear antibody and anti-DNA antibody and low levels of complements, a diagnosis of SLE was made. The upper abdominal ultrasound study and the specimen obtained by liver biopsy performed before initiating steroid therapy demonstrated marked fatty liver. SLE itself is considered as an etiology of fatty liver in this case. The second case was a 25-year-old Japanese female with SLE. She had been treated with prednisolone for 13 years and was complicated with Basedow's disease 10 years later. Fatty liver was also demonstrated in this patient on ultrasonography, and was thought to be resulted from long-term steroid hormone administration.  相似文献   

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In contrast to large-diameter vascular grafts (i.e. larger than 5 mm) which remain excellent for more than 10 years after implantation, small-diameter vascular grafts of both Dacron and Teflon occlude rapidly upon implantation. In this overview article, the strategies used to improve the patency of these small-diameter grafts, the current status in clinical trials, and further perspectives in the field of artificial vascular graft development are reviewed. It is concluded that, in view of recent developments in tissue engineering approaches, the future of small-diameter vascular prostheses looks promising.  相似文献   

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The modulatory role of the cerebellum was investigated in a case with rhombencephalosynapsis (RS), a rare dysplasia characterized by the absence of the cerebellar vermis. The visual psychophysical task involved localizing a target and ignoring a distractor appearing either before, at the same time as, or after the target. It allowed us to assess reactivity to warning signals, distraction, and reactivity to signals appearing during attentive processing. Compared with a control sample, the patient exhibited greater reactivity to warning signals and difficulties interrupting attentive processing, whereas distraction was not increased. Complementary analyses showed that these deficits did not reflect just delayed development of attentional processes. These results suggest that the cerebellum modulates responsiveness and commands attentional/exploratory flexibility in response to sensory signals. (PsycINFO Database Record (c) 2010 APA, all rights reserved)  相似文献   

18.
Case 1, a 9-year-old woman, was admitted to our hospital because of nausea, vomiting, and epigastralgia. Diagnosis of Bochdalek hernia was made by the unusual course of naso-gastric tube. At surgery through the left posterorateral thoracotomy, the herniation of the stomach, small intestine, and colon to the thoracic cavity through the dorsolateral defect of the diaphragm were revealed. Case 2, a 35-year-old man, was admitted to our hospital because of dyspnea. Similar diagnosis was made by the examination of upper G1 series and barium enema, which demonstrated the presence of multiple loops of the small intestine and colon in the left thoracic cavity. Their postoperative courses were uneventful. Most of Bochdalek hernia is observed in infancy, and adolescent or adult case is is rarely reported (approximately 10% of all cases). Since this often misdiagnosed as pleuritis or pulmonary tuberculosis, a cautious examination is necessary for the establishment of the correct diagnosis.  相似文献   

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The exopolysaccharide acetan, elaborated by Acetobacter xylinum, has been investigated. The polysaccharide and a heptasaccharide, obtained on enzymic hydrolysis, corresponding to the repeating unit were characterised by sugar and methylation analysis and by NMR spectroscopy and MS. It is concluded that the polysaccharide is composed of repeating units with the following structure. [formula: see text] The polysaccharide further contains approximately two O-acetyl groups per repeating unit, which have not been assigned, but it appears that they are on primary locations.  相似文献   

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