Saethre-Chotzen Syndrome, Pro136His TWIST Mutation, Hearing Loss, and External and Middle Ear Structural Anomalies: Report on a Brazilian Family

Objective: To describe the clinical, speech, hearing, and imaging findings in three members of a Brazilian family with Saethre-Chotzen syndrome (SCS) who presented some unusual characteristics within the spectrum of the syndrome. Design: Clinical evaluation was performed by a multidisciplinary team. Direct sequencing of the polymerase chain reaction amplified coding region of the TWIST1 gene, routine and electrophysiological hearing evaluation, speech evaluation, and imaging studies through computed tomography (CT) scan and magnetic resonance imaging (MRI) were performed. Results: TWIST1 gene analysis revealed a Pro136His mutation in all patients. Hearing evaluation showed peripherial and mixed hearing loss in two of the patients, one of them with severe unilateral microtia. Computed tomography scan showed structural middle ear anomalies, and MRI showed distortion of the skull contour as well as some of the brain structures. Conclusions: We report a previously undescribed TWIST1 gene mutation in patients with SCS. There is evidence that indicates hearing loss (conductive and mixed) can be related both with middle ear (microtia, high jugular bulb, and enlarged vestibules) as well as with brain stem anomalies. Here we discuss the relationship between the gene mutation and the clinical, imaging, speech, and hearing findings.

Stability and relapse of maxillary anterior crowding treatment in Class I and Class II Division 1 malocclusions

Introduction: The maxillary anterior teeth are the most important to facial esthetics because they are the first to show on a smile. Therefore, stability of the maxillary anterior teeth alignment is an important issue. The objective of this study was to compare the stability of maxillary anterior tooth alignment in Class I and Class II Division 1 malocclusions. Methods: The sample comprised dental casts of 70 patients with Class I and Class II Division 1 malocclusions and a minimum of 3 mm of maxillary anterior crowding measured by an irregularity index. The patients were treated with extractions and evaluated at pretreatment and posttreatment and at least 5 years after treatment. The sample was divided into 3 groups: group 1, Class I malocclusion treated with 4 first premolar extractions comprising 30 subjects, with an initial age of 13.16 years and 8.59 mm of initial maxillary irregularity; group 2, Class II malocclusion treated with 4 first premolar extractions comprising 20 subjects, with an initial age of 12.95 years and 11.10 mm of maxillary irregularity; and group 3, Class II malocclusion treated with 2 first maxillary premolar extractions comprising 20 subjects, with an initial age of 13.09 years and 9.68 mm of maxillary irregularity. Results: The decrease in the maxillary irregularity index was significantly greater in group 2 than in group 1 during treatment. The stability of maxillary anterior alignment was 88.12% over the long term; 77% of the linear displacement of the anatomic contact points tended to return to their original positions. Conclusions: Stability of maxillary anterior alignment between the 3 groups was similar. The stability of maxillary anterior alignment was high over the long term, but a high percentage of teeth tended to return to their original positions. (Am J Orthod Dentofacial Orthop 2011; 139: 768-74)

An architectonic comparison of the ventrobasal complex of two Megachiropteran and one Microchiropteran bat: implications for the evolution of Chiroptera

The architectonic features of the thalamic ventrobasal complex (Vb) of two species of Megachiropteran (Grey-headed flying fox, Pteropus poliocephalus, and the Eastern tube-nosed bat, Nyctimene robinsoni) are compared with those of a Microchiropteran (Australian ghost bat, Macroderma gigas). The somatosensory system was chosen for comparison as it represents a sensory system that has undergone analogous modifications in both Chiropteran lineages (the evolution of the wing). The components of Vb were examined as there are taxon-specific features in this region of the brain. Within the Megachiropteran Vb, four subnuclei were recognized: the ventral posterior medial (VPM), the ventral posterior lateral (VPL), the ventral posterior inferior (VPI), and the basal ventral medial (VMb). In the ghost bat only VPM and VPL were identified with certainty. No VPI was evident in the ghost bat, however a putative VMb was observed. Vb of the ghost bat also lacked the arcuate lamina, which distinguishes VPM from VPL in the Megachiropterans and many other mammals. These taxon-specific differences lend support to the proposal that the order Chiroptera has a diphyletic origin.

Phylogenetic relationships of Trypanosoma chelodina and Trypanosoma binneyi from Australian tortoises and platypuses inferred from small subunit rRNA analyses

Trypanosome infections are often difficult to detect by conventional microscopy and their pleomorphy often confounds differential diagnosis. Molecular techniques are now being used to diagnose infections and to determine phylogenetic relationships between species. Complete small subunit rRNA gene sequences were determined for isolates of Trypanosoma chelodina from the Brisbane River tortoise (Emydura signata), the saw-shelled tortoise (Elseya latisternum), and the eastern snake-necked tortoise (Chelodina longicollis) from southeast Queensland, Australia. Partial sequence data were also obtained for T. binneyi from a platypus (Ornithorhynchus anatinus) from Tasmania. Phylogenetic relationships between T. chelodina, T. binneyi and other species were examined by maximum parsimony and likelihood methods. The Australian tortoise and platypus trypanosomes did not exhibit any close phylogenetic relationships with those of mammals, reptiles or amphibians, but were closely related to each other, and to fish trypanosomes. This contra-indicates their co-evolution with their vertebrate hosts but does not exclude co-evolution with different groups of invertebrate vectors, notably insects and leeches.

Developments in the understanding of South African style SAG mills

The South African style SAG (RoM) mills operate in a window that is almost exclusive from the operation of the Australian and North American mills that have been used for the development of SAG mill models. Combining good quality, test data from the RoM mills is extending and improving these models, and assisting in a practical manner in improving our understanding of SAG/AG milling. Data from high mill loads, both in absolute filling and ball loading, have been used to extend and improve the JK SAG mill model. This improved understanding has been successfully applied to increasing the throughput of a mill by 8%. Data is presented on relationships between power and load for high mill loading. Slurry pooling is common in closed-circuit RoM mills, and the detrimental effect of this has been dramatically demonstrated at ALCOA with a mill throughput increase of over 20%. Techniques for calculating the effects of slurry pooling have been developed and a new pulp lifter system designed to give optimal slurry discharge. The influence of mill speed in shifting the product size distribution has also been measured. (C) 2001 Elsevier Science Ltd. All rights reserved.

Mitochondrial gene content, arrangement and composition compared in African and Asian schistosomes

Complete sequences were obtained for the coding portions of the mitochondrial (mt) genomes of Schistosoma mansoni (NMRI strain, Puerto Rico; 14415 bp), S. japonicum (Anhui strain, China; 14085 bp) and S. mekongi (Khong Island, Laos; 14072 bp). Each comprises 36 genes: 12 protein-encoding genes (cox1-3, nad1-6, nad4L, atp6 and cob); two ribosomal RNAs, rrnL (large subunit rRNA or 16S) and rrnS (small subunit rRNA or 12S); as well as 22 transfer RNA (tRNA) genes. The atp8 gene is absent. A large segment (9.6 kb) of the coding region (comprising 14 tRNAs, eight complete and two incomplete protein-encoding genes) for S. malayensis (Baling, Malaysian Peninsula) was also obtained. Each genome also possesses a long non-coding region that is divided into two parts (a small and a large non-coding region, the latter not fully sequenced in any species) by one or more tRNAs. The protein-encoding genes are similar in size, composition and codon usage in all species except for cox1 in S. mansoni (609 aa) and cox2 in S. mekongi (219 an), both of which are longer than homologues in other species. An unexpected finding in all the Schistosoma species was the presence of a leucine zipper motif in the nad4L gene. The gene order in S. mansoni is strikingly different from that seen in the S. japonicum group and other flatworms. There is a high level of identity (87-94% at both the nucleotide and amino acid levels) for all protein-encoding genes of S. mekongi and S. malayensis. The identity between genes of these two species and those of S. japonicum is less (56-83% for amino acids and 73-79 for nucleotides). The identity between the genes of S. mansoni and the Asian schistosomes is far less (33-66% for amino acids and 54-68% for nucleotides), an observation consistent with the known phylogenetic distance between S. mansoni and the other species. (C) 2001 Elsevier Science B.V. All rights reserved.

A total-evidence phylogeny of ticks provides insights into the evolution of life cycles and biogeography

We inferred the phylogeny of 33 species of ticks from the subfamilies Rhipicephalinae and Hyalomminae from analyses of nuclear and mitochondrial DNA and morphology. We used nucleotide sequences from 12S rRNA, cytochrome c oxidase I, internal transcribed spacer 2 of the nuclear rRNA, and 18S rRNA. Nucleotide sequences and morphology were analyzed separately and together in a total-evidence analysis. Analyses of the five partitions together (3303 characters) gave the best-resolved and the best-supported hypothesis so far for the phylogeny of ticks in the Rhipicephalinae and Hyalomminae, despite the fact that some partitions did not have data for some taxa. However, most of the hidden conflict (lower support in the total-evidence analyses compared to that in the individual analyses) was found in those partitions that had taxa without data. The partitions with complete taxonomic sampling had more hidden support (higher support in the total-evidence analyses compared to that in the separate-partition analyses) than hidden conflict. Mapping of geographic origins of ticks onto our phylogeny indicates an African origin for the Rhipicephalinae sensu lato (i.e., including Hyalomma spp.), the Rhipicephalus-Boophilus lineage, the Dermacentor-Anocentor lineage, and the Rhipicephalus-Booophilus-Nosomma-Hyalomma-Rhipicentor lineage. The Nosomma-Hyalomma lineage appears to have evolved in Asia. Our total-evidence phylogeny indicates that (i) the genus Rhipicephalus is paraphyletic with respect to the genus Boophilus, (ii) the genus Dermacentor is paraphyletic with respect to the genus Anocentor, and (iii) some subgenera of the genera Hyalomma and Rhipicephalus are paraphyletic with respect to other subgenera in these genera. Study of the Rhipicephalinae and Hyalomminae over the last 7 years has shown that analyses of individual datasets (e.g., one gene or morphology) seldom resolve many phylogenetic relationships, but analyses of more than one dataset can generate well-resolved phylogenies for these ticks. (C) 2001 Academic Press.

Development of educational policy and early intervention for learning difficulties in Australia: In the case of Queensland

This paper aims to describe the historical outline and current development of the educational policy for students with learning difficulties in Australia, focusing especially on the state of Queensland. In order to develop educational policy of learning difficulities at the state level, the concept of learning difficulities had been discussed until the middle of the 1970's. Receiving the submissions which argued strongly against a diagnostically-oriented definition of learning disabilities, the Select Comittee concluded that there was much conceptual confusion regarding the definition and cause of learining difficulties that might take many years to resolve. Despite that it was recongnised that action was needed to assist children by looking at their "total learning environmerit", and recommended the development of an educational policy for students with learning difficulties. During 1980's, support teachers for students with learning difficulties were employed in many schools. Scince the early 1980's support teachers have been making their efforts in regular classrooms rather than in the resource rooms. Their roles have been to help students with learning difficulties using effective and specific skills, and to consult with the regular classroom teacher in solving the problems related to learning difficulties in regular classes. Currently, the support system for students with learning difficulties has been employed to organize a more systematic and broader approach in Queensland based on the accountability of schools. In the context of enphasizing literacy and numeracy, a systematic whole school approach and particular programs, such as the Year 2 Diagnostic Net and Reading Recovery, have been introduced into the educational system for early identification and early intervention.

Lucerne biology and genetic improvement - an analysis of past activities and future goals in Australia

Breeding methodologies for cultivated lucerne (Medicago sativa L.), an autotetraploid, have changed little over the last 50 years, with reliance on polycross methods and recurrent phenotypic selection. There has been, however, an increase in our understanding of lucerne biology, in particular the genetic relationships between members of the M. sativa complex, as deduced by DNA analysis. Also, the differences in breeding behaviour and vigour of diploids versus autotetraploids, and the underlying genetic causes, are discussed in relation to lucerne improvement. Medicago falcata, a member of the M. sativa complex, has contributed substantially to lucerne improvement in North America, and its diverse genetics would appear to have been under-utilised in Australian programs over the last two decades, despite the reduced need for tolerance to freezing injury in Australian environments. Breeding of lucerne in Australia only commenced on a large scale in 1977, driven by an urgent need to introgress aphid resistance into adapted backgrounds. The release in the early 1980s of lucernes with multiple pest and disease resistance (aphids, Phytophthora, Colletotrichum) had a significant effect on increasing lucerne productivity and persistence in eastern Australia, with yield increases under high disease pressure of up to 300% being recorded over the predominant Australian cultivar, up to 1977, Hunter River. Since that period, irrigated lucerne yields have plateaued, highlighting the need to identify breeding objectives, technologies, and the germplasm that will create new opportunities for increasing performance. This review discusses major goals for lucerne improvement programs in Australia, and provides indications of the germplasm sources and technologies that are likely to deliver the desired outcomes.

Isolation of Gemmata-like and Isosphaera-like planctomycete bacteria from soil and freshwater

New cultured strains of the planctomycete division (order Planctomycetales) of the domain Bacteria related to species in the genera Gemmata and Isosphaera were isolated from soil, freshwater, and a laboratory ampicillin solution. Phylogenetic analysis of the 16S rRNA gene from eight representative isolates showed that all the isolates were members of the planctomycete division. Six isolates clustered with Gemmata obscuriglobus and related strains, while two isolates clustered with Isosphaera pallida. A double-membrane-bounded nucleoid was observed in Gemmata-related isolates but not in Isosphaera-related isolates, consistent with the ultrastructures of existing species of each genus. Two isolates from this study represent the first planctomycetes successfully cultivated from soil.

Determinants of physical activity in middle school children

Objective: To evaluate the theory of reasoned action (TRA) and planned behavior (TPB) in predicting moderate-to-vigorous physical activity (MVPA) in sixth-grade youth. Methods: One hundred ninety-eight students completed a questionnaire measuring attitudes, subjective norms, perceived behavioral control, and intentions to be active. MVPA was measured using the CSA 7,164 accelerometer. Results: Although demonstrating an acceptable fit, the TRA and TPB accounted for only a small percentage of the variance in MVPA. In support of the TPB: the addition: of control perceptions to the reasoned! action model! added to the prediction of intentions and MVPA. Conclusion: Within our sample of sixth graders, the utility of the, TRA or TPB;as a framework for activity interventions appears to be limited.

Minor physical anomalies and quantitative measures of the head and face in patients with psychosis

Background: The aim of this study was to examine minor physical anomalies and quantitative measures of the head and face in patients with psychosis vs healthy controls. Methods: Based on a comprehensive prevalence study of psychosis, we recruited 310 individuals with psychosis and 303 controls. From this sample, we matched 180 case-control pairs for age and sex. Individual minor physical anomalies and quantitative measures related to head size and facial height and depth were compared within the matched pairs. Based on all subjects, we examined the specificity of the findings by comparing craniofacial summary scores in patients with nonaffective or affective psychosis and controls. Results: The odds of having a psychotic disorder were increased in those with wider skull bases (odds ratio [OR], 1.40; 95% confidence interval [CI], 1.02-1.17), smaller lower-facial heights (glabella to subnasal) (OR, 0.57; 95% CI, 0.44-0.75), protruding ears (OR, 1.72; 95% CI, 1.05-2.82), and shorter (OR, 2.29; 95% CI, 1.37-3.82) and wider (OR, 2.28; 95% CI, 1.43-3.65) palates. Compared with controls, those with psychotic disorder had skulls that were more brachycephalic. These differences were found to distinguish patients with nonaffective and affective psychoses from controls. Conclusions: Several of the features that differentiate patients from controls relate to the development of the neuro-basicranial complex and the adjacent temporal and frontal lobes. Future research should examine both the temporal lobe and the middle cranial fossa to reconcile our anthropomorphic findings and the literature showing smaller temporal lobes in patients with schizophrenia. Closer attention to the skull base may provide clues to the nature and timing of altered brain development in patients with psychosis.

delta N-15 values of tropical savanna and monsoon forest species reflect root specialisations and soil nitrogen status

A large number of herbaceous and woody plants from tropical woodland, savanna, and monsoon forest were analysed to determine the impact of environmental factors (nutrient and water availability, fire) and biological factors (microbial associations, systematics) on plant delta(15)N values. Foliar delta(15)N values of herbaceous and woody species were not related to growth form or phenology, but a strong relationship existed between mycorrhizal status and plant delta(15)N. In woodland and savanna, woody species with ectomycorrhizal (ECM) associations and putative N-2-fixing species with ECM/arbuscular (AM) associations had lowest foliar delta(15)N values (1.0-0.6parts per thousand), AM species had mostly intermediate delta(15)N values (average +0.6parts per thousand), while non-mycorrhizal Proteaceae had highest delta(15)N values (+2.9 to +4.1parts per thousand). Similar differences in foliar delta(15)N were observed between AM (average 0.1 and 0.2parts per thousand) and non-mycorrhizal (average +0.8 and +0.3parts per thousand) herbaceous species in woodland and savanna. Leguminous savanna species had significantly higher leaf N contents (1.8-2.5% N) than non-fixing species (0.9-1.2% N) indicating substantial N acquisition via N-2 fixation. Monsoon forest species had similar leaf N contents (average 2.4% N) and positive delta(15)N values (+0.9 to +2.4parts per thousand). Soil nitrification and plant NO3- use was substantially higher in monsoon forest than in woodland or savanna. In the studied communities, higher soil N content and nitrification rates were associated with more positive soil delta(15)N and plant delta(15)N. In support of this notion, Ficus, a high NO3- using taxa associated with NO3- rich sites in the savanna, had the highest delta(15)N values of all AM species in the savanna. delta(15)N of xylem sap was examined as a tool for studying plant delta(15)N relations. delta(15)N of xylem sap varied seasonally and between differently aged Acacia and other savanna species. Plants from annually burnt savanna had significantly higher delta(15)N values compared to plants from less frequently burnt savanna, suggesting that foliar N-15 natural abundance could be used as marker for assessing historic fire regimes. Australian woodland and savanna species had low leaf delta(15)N and N content compared to species from equivalent African communities indicating that Australian biota are the more N depauperate. The largest differences in leaf delta(15)N occurred between the dominant ECM Australian and African savanna (miombo) species, which were depleted and enriched in N-15, respectively. While the depleted delta(15)N of Australian ECM species are similar to those of previous reports on ECM species in natural plant communities, the N-15-enriched delta(15)N of African ECM species represent an anomaly.

How middle managers contribute to strategy formation process: connection of strategy processes and strategy practices

The role of middle management is essential when managing integrative and emergent strategy formation processes. We stand out the importance of its role connecting micro and macro organizational level offering a very important contribution when examining the strategy-as-practice perspective and integrative strategy formation process. The main goal of this research is to analyse the relationship between the integrative strategy formation process and the roles of middle management under the strategy-as-practice perspective. To check it out we adopted a qualitative methodology droving a case analysis in a Spanish University. Data was collected by means of personal interviews with members of different levels of the Institution, documents analysis and direct observation. In advance of some results we find out that the University develops an integrative strategy formation process and confers to middle management an important role extended all over the organization.

Studies on mosquitoes (Diptera: Culicidae) and anthropic environment: 3- Survey of adult stages at the rice irrigation system and the emergence of Anopheles albitarsis in South-Eastern, Brazil

A study of adult Culicidae ecology was carried out from January 1992 through January 1993 at the rice irrigation system of the Ribeira Valley Experimental Station. The adaptation of Anopheles albitarsis to the anthropic environment became evident through the adult collections made at its various habitats represented by the irrigation system and the edge of the residual pond, as well as at those made within the local patchy residual woods. Other potential disease vectors were prevalent in the irrigated system too. There were Aedes scapularis, Culex nigripalpus and Cx. ribeirensis that were collected at various habitats. Remarkable differences among their prevalences were obtained such as between the natural forest and anthropic environments. In the former An. albitarsis was practically non-existent, thus suggesting that it might be considered as eusynathropic. As the populations of other species seemed to increase in the anthropic environment, they may be regarded as hemisynanthropes. Observations suggest the hypothesis that the development of irrigated land may be a factor in the emergence of An. albitarsis, and some other species, as well as the possibility of an increase in the transmission of mosquito-borne diseases such as malaria.