Non‐syndromic mental retardation segregating with an apparently balanced t(1;17) reciprocal translocation through three generations

We describe a family in which non‐syndromic mental retardation (MR) and an apparently balanced reciprocal translocation, t(1;17)(p36.3;p11.2) segregates in eight individuals over three generations. Four children showed psychomotor developmental delay, reduced muscle tone, poor coordination, and learning difficulties. The affected adults had a varying range of behavioral problems and difficulties in social adjustment but no abnormal neurological signs. Most of them were functioning at the borderline learning difficulty level in intellectual abilities with additional specific difficulties in reading in two individuals. The Smith‐Magenis and 1p36.3 deletion syndromes were excluded. We propose that this reciprocal translocation has disrupted an autosomal gene with an important function in cognitive development, and this family represents a unique resource for the molecular genetic study on non‐syndromic MR. Am. J. Med. Genet. 95:99–104, 2000. © 2000 Wiley‐Liss, Inc.     

Serum interleukin-30 level in patients with psoriasis and its correlation with psoriasis severity: a case-control study

ObjectivesTo examine the serum levels of interleukin (IL)-30 in patients with psoriasis and evaluate the correlations with the Psoriasis Area and Severity Index (PASI).MethodsSerum was collected from 26 patients with psoriasis and 26 healthy controls in a case–control setting, and the level of IL-30 was determined using an enzyme-linked immunosorbent assay. Statistical analysis of the IL-30 levels among groups and further correlation analyses of IL-30 levels with PASI scores were performed.ResultsA significant increase in the level of IL-30 in patients with psoriasis compared with healthy controls was observed. In addition, a positive correlation between the IL-30 concentration and PASI scores was found in patients with psoriasis.ConclusionIL-30 is presumably involved in the proliferation of epidermal cells during the development of psoriasis. Further studies with a larger number of participants are required to comprehensively elucidate the biological roles of IL-30 in the pathogenesis of psoriasis.     

In situ hybridization studies of α2-macroglobulin receptor and receptor-associated protein in human prostate carcinoma

We have utilized in situ hybridization and immunocytochemistry techniques to examine the expression of both α₂-macroglobulin (α₂-MR) and the 39 kDa receptor-associated protein (RAP) in 8 benign (BPH) and 34 malignant human prostate tissues, including 4 metastases. The levels of α₂-MR mRNA expression (but not RAP) increased significantly in high Gleason score carcinomas (>8) and in metastatic lesions, suggesting that α₂-MR expression is associated with advanced cancer. Semi-quantitative analysis with computer-assisted system analysis (CASA) confirmed this interpretation. This is the first report of α₂-MR expression being associated with advanced prostate cancer. © 1996 Wiley-Liss, Inc.     

Managing the cervical spine in multiple myeloma patients

Discuss the relevant literature on surgical and nonsurgical treatments for multiple myeloma (MM) and their complementary effects on overall treatment. Existing surgical algorithms designed for neoplasia of the spine may not suit the management of spinal myeloma. Less than a fifth of metastatic, including myelomatous lesions, occur in the cervical spine but have a poorer prognosis and surgery in this area carries a higher morbidity. With the advances of chemotherapy, early access to radiotherapy, early orthosis management, and high definition imaging, including CT and MRI, surgical indications in MM have changed. Medical decompression (or oncolysis), including in the presence of neurological deficit and orthotic stabilization, are proving viable nonsurgical options to manage MM. A key to decision making is the assessment and monitoring of biomechanical spinal stability as part of a multidisciplinary approach.     

Objective predictors of ‘early tolerance’ to ventral intermediate nucleus of thalamus deep brain stimulation in essential tremor patients

Objective

To identify pre-operative clinical and computerized spiral analysis characteristics that may help ascertain which patients with Essential Tremor (ET) will exhibit ‘early tolerance’ to ventral intermediate nucleus of thalamus (Vim) deep brain stimulation (DBS).

A Machine Learning Approach to Detect Router Advertisement Flooding Attacks in Next-Generation IPv6 Networks

Router advertisement (RA) flooding attack aims to exhaust all node resources, such as CPU and memory, attached to routers on the same link. A biologically inspired machine learning-based approach is proposed in this study to detect RA flooding attacks. The proposed technique exploits information gain ratio (IGR) and principal component analysis (PCA) for feature selection and a support vector machine (SVM)-based predictor model, which can also detect input traffic anomaly. A real benchmark dataset obtained from National Advanced IPv6 Center of Excellence laboratory is used to evaluate the proposed technique. The evaluation process is conducted with two experiments. The first experiment investigates the effect of IGR and PCA feature selection methods to identify the most contributed features for the SVM training model. The second experiment evaluates the capability of SVM to detect RA flooding attacks. The results show that the proposed technique demonstrates excellent detection accuracy and is thus an effective choice for detecting RA flooding attacks. The main contribution of this study is identification of a set of new features that are related to RA flooding attack by utilizing IGR and PCA algorithms. The proposed technique in this paper can effectively detect the presence of RA flooding attack in IPv6 network.