Clinical diagnosis of the Usher syndromes

The Usher syndromes are genetically distinct disorders which share specific phenotypic characteristics. This paper describes a set of clinical criteria recommended for the diagnosis of Usher syndrome type I and Usher syndrome type II. These criteria have been adopted by the Usher Syndrome Consortium and are used in studies reported by members of this Consortium. © 1994 Wiley-Liss, Inc.     

Heritable dentin defects: Nosology,pathology, and treatment

Heritable dentin defects have been divided into 2 main categories: dentinogenesis imperfecta (DI) and dentin dysplasia (DD). Recent studies have shown that they share many features in common. Of the connective tissue diseases, only osteogenesis imperfecta (OI) has been linked to these disorders. So far, no definitive relation between the type of OI and the dental involvement can be established. Familial occurrence of DI with OI cannot be comprehensively explained by mutations in type I collagen genes. No information about the gene defects in DD is available. At the ultrastructural level, the organization of the normally cross-striated collagen fibers in the dentin matrix varies markedly in patients affected by DI.     

Antidromic latency of the monkey pyramidal tract neuron related to ipsileteral hand movements

During three different motor tasks of finger, wrist and arm movements on either side, 80 pyramidal tract neuron (PTN) activities were recorded in the monkey motor cortex. They were divided into three groups; PTNs related to controlateral movement (contra-PTNs), those related to ipsilateral movementt lateral movement (bilaterai-PTNs) and those related to ipsilateral movement (ipsi-PTNs). The latency histogram of the antidromic activation was similar for contra-PTNs as well as ipsi- and bilateral-PTNs in the fast PTN group, but most of slow PTNs appeared among contra-PTNs. Intracortical microstimulation (ICMS) was delivered to correlate muscular contraction with PTN acticity. Most of slow PTNs were related to proximal muscular contraction and PTNs related to proximal muscles appeared more in ipsi- and bilateral-PTNs than in contra-PTNs.     

胡萝卜籽挥发油的抗生育作用

胡萝卜籽挥发油对小鼠有抗着床,抗早、中和晚期妊娠作用。对大鼠也有抗着床作用。挥发油中的萜类碳氢化合物部位,对小鼠皮下注射抗早期妊娠的ED_(50)为2.9ml/kg,甲地孕酮和hCG能明显逆转其作用;对假孕小鼠蜕膜瘤有抑制作用,此作用不能被甲地孕酮拮抗,皮下注射于早孕大鼠24、48小时后血浆孕酮浓度明显下降。以上提示其抗早孕作用机制可能与抑制孕酮合成和蜕膜反应有关。此外,挥发油碳氢部分无雌激素和抗雌激素活性,低浓度时对早孕大鼠离体子宫的收缩活动没有影响,高浓度则表现抑制作用。     

New high yield Cu(I) assisted 123I radioiodination of 15(p-I-phenyl)-9-methyl pentadecanoic acid,a potential myocardial tracer

A new high yield ¹²³I radioiodination (97%), based on the Cu(I) assisted isotopic exchange in an ethanol water mixture, of 15(p-I-phenyl)-9 methyl pentadecanoic acid, a potential myocardial tracer, is proposed. The method allows a true kit preparation of radioiodinated phenyl fatty acids for a substrate concentration of ±10^-6 moles. High specific activities (>0.1 mCi/g) can be obtained when coupling the labelling method to HPLC purification with an overall radiochemical yield of 75%.     

Late-onset globoid cell leukodystrophy

During the past 12 years, ten cases of globoidcell leukodystrophy (GLD) have been followed up: seven of these patients were affected by the late infantile form. The authors point out the clinical aspects and the course of these patients and stress the high frequency of this form of GLD in Sicily.     

Inflammatory and non-inflammatory inclusion body myositis

Summary In ten patients with inclusion body myositis (IBM) five muscular biopsies showed profuse inflammatory exudates and three showed a few scattered inflammatory cells with partial invasion in some muscle fibers. No inflammatory cells were seen in two cases. In all patients, histopathological, histomorphometric and immunocytochemical studies were performed. Immunocytochemistry for the class I and class II major histocompatibility complex gene product (MHC) was performed in all cases and in ten control muscles including: normal muscles [3], dermatomyositis [3], polymyositis [3], scleroderma [1]. In the five cases of IBM with inflammatory exudates, subsets of lymphocytes were analyzed with a panel of monoclonal antibodies against B cells, T4 cells, T8 cells, K and natural killer cells and macrophages. Some muscle fibers expressed class I MHC antigens in the inflammatory cases of IBM. These fibers were near the inflammatory exudates and occasionally showed a partial invasion. No expression of class I MHC was found in normal muscles and in non-inflammatory cases of IBM. The antigen which triggers the mononuclear cells in the inflammatory forms of IBM is probably not the filamentous inclusions in rimmed vacuoles. In other inflammatory myopathies, expression of class I MHC was present on all fibers in polymyositis, only in the perifascicular area in dermatomyositis and in scleroderma. It could be suggested that the term inclusion body muscle disease be applied to cases with rimmed vacuoles and IBM-like filaments without inflammatory cells.