Characterization of language and reading skills in familial polymicrogyria

Polymicrogyria (PMG) is a malformation of cortical development characterized by an excessive number of small gyri and abnormal cortical lamination, giving the cortical surface an irregular and gross appearance. The severity of clinical manifestations correlates with the extent of cortical involvement. The objective of the present study was to describe three families with linguistic features of developmental language disorder and reading impairment, and to establish a neuroanatomic correlation through neuroimaging. Subjects have been submitted to a comprehensive protocol including psychological assessment, language evaluation, neurological examination, and neuroimaging investigation. In our families, children usually had the diagnosis of developmental language disorder while adults had the diagnosis of reading impairment. MRI showed perisylvian polymicrogyria in several subjects of each family. Our data support the idea that there is a co-occurrence of developmental language disorder and reading impairment and both conditions may be associated with polymicrogyria. (c) 2007 Elsevier B.V. All rights reserved.

Duck hepatitis B virus expresses a regulatory HBx-like protein from a hidden open reading frame

Duck hepatitis B viruses (DHBV), unlike mammalian hepadnaviruses, are thought to lack X genes, which encode transcription-regulatory proteins believed to contribute to the development of hepatocellular carcinoma. A lack of association of chronic DHBV infection with hepatocellular carcinoma development supports this belief. Here, we demonstrate that DHBV genomes have a hidden open reading frame from which a transcription-regulatory protein, designated DHBx, is expressed both in vitro and in vivo. We show that DHBx enhances neither viral protein expression, intracellular DNA synthesis, nor virion production when assayed in the full-length genome context in LMH cells. However, similar to mammalian hepadnavirus X proteins, DHBx activates cellular and viral promoters via the Raf-mitogen-activated protein kinase signaling pathway and localizes primarily in the cytoplasm. The functional similarities as,well as the weak sequence homologies of DHBx and the X proteins of mammalian hepadnaviruses strongly suggest a common ancestry of ortho- and avihepadnavirus X genes. In addition, our data disclose similar intracellular localization and transcription regulatory functions of the corresponding proteins, raise new questions as to their presumed role in hepatocarcinogenesis, and imply unique opportunities for deciphering of their still-enigmatic in vivo functions.

Cloning of a differentially expressed tropomyosin isoform from cultured rabbit aortic smooth muscle cells

The four known tropomyosin genes have highly conserved DNA and amino acid sequences, and at least 18 isoforms are generated by alternative RNA splicing in muscle and non-muscle cells. No rabbit tropomyosin nucleotide sequences are known, although protein sequences for alpha- and beta-tropomyosin expressed by rabbit skeletal muscle have been described. Subtractive hybridisation was used to select for genes differentially expressed in rabbit aortic smooth muscle cells (SMC), during the change in cell phenotype in primary culture that is characterised by a loss of cytoskeletal filaments and contractile proteins. This led to the cloning of a tropomyosin gene predominantly expressed in rabbit SMC during this change. The full-length cDNA clone, designated rabbit TM-beta, contains an open reading frame of 284 amino acids, 5' untranslated region (UTR) of I 17 base pairs and 3' UTR of 79 base pairs. It is closely related to the beta-gene isoforms in other species, with the highest homology in DNA and protein sequences to the human fibroblast isoform TM-1 (91.7% identity in 1035 bp and 93.3% identity in the entire 284 amino acid sequence of the protein), It differs from rabbit skeletal muscle P-tropomyosin (81.7% homology at the protein level) mainly in two regions at amino acids 189-213 and 258-283 suggesting alternative splicing of exons 6a for 6b and 9d for 9a. Since this TM-P gene was the only gene strongly enough expressed in SMC changing phenotype to be observed by the subtractive hybridisation screen, it likely plays a significant role in this process. (C) 2002 Published by Elsevier Science Ltd.

Reflections on onset-rime and phoneme sensitivity as predictors of beginning word reading

Rival claims have been made concerning the importance of rime sensitivity as a predictor of early word reading skill. Hulme et al. (2002) suggested that phoneme sensitivity is more strongly predictive of word reading ability than is onset-rime sensitivity. An examination of two independent data sets suggests that, although onset-rime sensitivity typically predicts school entrants' later word reading skill, phoneme sensitivity does predict more variation. However, multiple regression analyses do not reveal the level of phonological sensitivity that children need in order to understand alphabetic reading instruction. This issue is crucial to the detection of children at risk for reading failure and for the design of intervention programs for these children. A different analytic strategy is described for addressing this issue. (C) 2002 Elsevier Science (USA).

A rapid screen of the severity of mild traumatic brain injury

This study investigated the sensitivity of information processing, recall and orientation tasks to the presence of mild Traumatic Brain Injury (mTBI). Fifty-six (40 male, 16 female) mTBI patients and 85 (57 male and 28 female) controls with orthopaedic injuries were tested within 24 hr of injury in the Department of Emergency Medicine. mTBI patients answered fewer orientation questions and recalled fewer words in delayed recall than orthopaedic patients. mTBI patients judged fewer sentences in 2 min than orthopaedic controls, and female mTBI patients judged fewer sentences than male mTBI patients. Male mTBI patients correctly recalled fewer words during immediate memory and learning than female mTBI patients and orthopaedic controls. Those mTBI patients with a history of previous head injuries did not perform more poorly than those mTBI patients without previous head injuries. These results indicate that tests of speed of information processing, word learning and orientation questions are sensitive to the acute effects of mTBI.

Clinical evaluation of the WOMAC 3.0 OA Index in numeric rating scale format using a computerized touch screen version

Background: The Western Ontario and McMaster Universities (WOMAC) Osteoarthritis Index is a previously described self-administered questionnaire covering three domains: pain, stiffness and function. It has been validated in patients with osteoarthritis (OA) of the hip or knee in a paper-based format. Aim: To validate the WOMAC 3.0 using a numerical rating scale in a computerized touch screen format allowing immediate evaluation of the questionnaire. In the computed version cartoons, written and audio instruments were included in order facilitate application. Methods: Fifty patients, demographically balanced, with radiographically proven primary hip or knee OA completed the classical paper and the new computerized WOMAC version. Subjects were randomized either to paper format or computerized format first to balance possible order effects, Results: The intra-class correlation coefficients for pain, stiffness and function values were 0.915, 0.745 and 0.940, respectively. The Spearman correlation coefficients for pain, stiffness and function were 0.88, 0.77 and 0.87, respectively. Conclusion: These data indicate that the computerized WOMAC OA index 3.0 is comparable to the paper WOMAC in all three dimensions. The computerized version would allow physicians to get an immediate result and if present a direct comparison with a previous exam. (C) 2002 OsteoArthritis Research Society International. Published by Elsevier Science Ltd. All rights reserved.