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.

The effects of normalisation on the ability of business end-users to detect data anomalies: An experimental evaluation

With the proliferation of relational database programs for PC's and other platforms, many business end-users are creating, maintaining, and querying their own databases. More importantly, business end-users use the output of these queries as the basis for operational, tactical, and strategic decisions. Inaccurate data reduce the expected quality of these decisions. Implementing various input validation controls, including higher levels of normalisation, can reduce the number of data anomalies entering the databases. Even in well-maintained databases, however, data anomalies will still accumulate. To improve the quality of data, databases can be queried periodically to locate and correct anomalies. This paper reports the results of two experiments that investigated the effects of different data structures on business end-users' abilities to detect data anomalies in a relational database. The results demonstrate that both unnormalised and higher levels of normalisation lower the effectiveness and efficiency of queries relative to the first normal form. First normal form databases appear to provide the most effective and efficient data structure for business end-users formulating queries to detect data anomalies.

Flat-Oval Root Canal Preparation with Self-Adjusting File Instrument: A Micro-Computed Tomography Study

Introduction: The aim of this study was to evaluate the root canal preparation in flat-oval canals treated with either rotary or self-adjusting file (SAF) by using micro-tomography analysis. Methods: Forty mandibular incisors were scanned before and after root canal instrumentation with rotary instruments (n = 20) or SAF (n = 20). Changes in canal volume, surface area, and cross-sectional geometry were compared with preoperative values. Data were compared by independent sample t test and chi(2) test between groups and paired sample t test within the group (alpha = 0.05). Results: Overall, area, perimeter, roundness, and major and minor diameters revealed no statistical difference between groups (P > .05). In the coronal third, percentage of prepared root canal walls and mean increases of volume and area were significantly higher with SAF (92.0%, 1.44 +/- 0.49 mm(3), 0.40 +/- 0.14 mm(2), respectively) than rotary instrumentation (62.0%, 0.81 +/- 0.45 mm(3), 0.23 +/- 0.15 mm2, respectively) (P < .05). SAF removed dentin layer from all around the canal, whereas rotary instrumentation showed substantial untouched areas. Conclusions: In the coronal third, mean increases of area and volume of the canal as well as the percentage of prepared walls were significantly higher with SAF than with rotary instrumentation. By using SAF instruments, flat-oval canals were homogenously and circumferentially prepared. The size of the SAF preparation in the apical third of the canal was equivalent to those prepared with #40 rotary file with a 0.02 taper. (J Endod 2011;37:1002-1007)

The anatomy of two-rooted mandibular canines determined using micro-computed tomography

P>Aim To investigate the internal and external anatomy of extracted human mandibular canines with two roots and two distinct canals using micro-computed tomography (mu CT). Methodology Fourteen two-rooted human mandibular canines were scanned using a high-resolution mu CT system (SkyScan 1174v2; SkyScan N.V., Kontich, Belgium). The images were processed to evaluate the size of the roots, the furcation regions, the presence of accessory canals, the mean distances between several anatomical landmarks, the position of the apical foramina, the direction of root curvatures, the cross-sectional appearances (SMI index), the volume and surface areas of the root canals. Results Root bifurcation was located in both apical (44%, n = 6) and middle (58%, n = 8) thirds of the root. The size of the buccal and lingual roots was similar in 29% of the sample. From a buccal view, no curvature towards the lingual or buccal direction occurred in either roots. From a proximal view, no straight lingual root occurred. In both views, S-shaped roots were found in 21% of the specimens. Location of the apical foramen varied considerably, tending to the mesio-buccal aspect of both roots. Lateral and furcation canals were observed mostly in the cervical third in 29% and 65% of the sample, respectively. The structure model index (SMI) index ranged from 1.87 to 3.86, with a mean value of 2.93 +/- 0.46. Mean volume and area of the root canals were 11.52 +/- 3.44 mm3 and 71.16 +/- 11.83 mm2, respectively. Conclusions The evaluation of two-rooted mandibular canines revealed that bifurcations occurred in the apical and middle third. S-shaped roots were found in 21% of the specimens. Mean volume, surface area and SMI index of the root canals were 11.52 mm3, 71.16 mm2 and 2.93, respectively.

A comparison of family functioning, temperament, and childhood conditions in monozygotic twin pairs discordant for lifetime bulimia nervosa

Objective: The authors investigated differences between twins in nine pairs of female monozygotic twins in the Australian Twin Registry who were discordant for lifetime bulimia nervosa. Method: The twins affected and unaffected by lifetime bulimia nervosa were compared on self-report measures, including a measure of parental bonding, four measures of temperament, and six early-childhood medical conditions. Results: No twins had current bulimia nervosa, and there was no difference in weight or eating status between the affected and unaffected twins. The affected twins reported significantly lower self-esteem and less warmth but more overprotection by their mothers during childhood. Conclusions: Although limited by the small number of discordant twin pairs and the inability to detect causal relationships, these results suggest that environmental influences that promote low self-esteem may also increase the risk for bulimia nervosa. These temperamental differences may explain the discrepancies in parenting or perceived parenting.

Learning organizations: Empirically investigating metaphors

Learning organizations are a special form of organization where enhancing learning is a strategy to increase intellectual capital. Developing learning organizations has become an imperative for many managers, since an organization's learning methods and rate may be the only source of sustainable competitive advantage. However, learning organization theory tends to be prescriptive and rhetorical, with empirical research still relatively new. This paper contributes to the literature by reporting case-study research in progress based on four Australian organizations. In the organizations studied, use of the learning organization metaphor was coupled with an emergent metaphor: organization as `family". By employing structure mapping of metaphor within analytical induction, both established methods but not combined before, this paper shows how theory might be developed from metaphor.

The play of identities in Cypriot-Australian family storytelling

This article adopts a microanalytic approach to examine storytelling as a co-construction by family members in a Cypriot-Australian family. Previous studies on family storytelling have focused on the various roles of family members in storytelling with a means of studying family socialization (Miller et al., 1990; Ochs & Taylor, 1992; Blum-Kulka, 1997). These studies used critical discourse analysis, socioculturel theories, performance and pragmatic approaches to storytelling. This article offers a distinctive approach to family storytelling by examining the discourse and social identities that family members display during the storytelling. The data originate in a study that involves interviews with three generations of Greek-Australian and Cypriot-Australian women regarding their relationships with each other. In this paper we investigate the contributions of the father and the daughters in the course of the mother's turn at storytelling. The first part of the analysis focuses on the husband's discourse identities as a contributor, initiator and elicitor of his wife's storytelling. During the storytelling we also observe the production and exchange of different social identities between the husband and the mother, such as the 'unwilling suitor', the 'embarrassed schoolgirl' or the 'forceful but teasing husband'. The second part describes how the daughters take part in their mother's storytelling, producing a variety of identities such as the 'impatient mother', the 'complaining', 'happy', or 'good' mothers and daughters. These investigations succinctly illustrate how narratives become a resource for members' 'display' and 'play' of identities. Copyright ©2002, John Benjamins B.V.

The status of the Diplosentidae (Acanthocephala : Palaeacanthocephala) and a new family of acanthocephalans from Australian wrasses (Pisces : Labridae)

The status and composition of the Diplosentidae Tubangui et Masilungan, 1937 are reviewed. The type species of the type genus, Diplosentis amphacanthi Tubangui et Masilungan, 1937 from Siganus canaliculatus (Park, 1797) in the Philippines, is concluded to have been described inaccurately,in supposedly possessing, only two cement glands and lemnisci enclosed in a membranous sac. The species is almost certainly very close to species of Neorhadinorhynchus yamaguti, 1939 and Sclerocollum Schmidt of Paperna, 1978 which have also been reported from siganids from the tropical Indo-Pacific. Species of these genera have four cement glands and unexceptional lemnisci. As a result, Diplosentis Tubangui et Masilungan, 1937 is best considered to have affinities with the Cavisomidae Meyer, 1932. The Cavisomidae has priority over the Diplosentidae; thus the Diplosentidae becomes a synonym of the Cavisomidae. Neorhadinorhynchus and Sclerocollum are considered synonyms of Diplosentis. The affinities of the other species and genera formerly included in the Diplosentidae (other species of Diplosentis, Allorhadinorhynchus Yamaguti, 1959, Amapacanthus Salgado-Maldonado et Santos, 2000, Pararhadinorhynchus Johnston et Edmonds, 1947, Golvanorhynchus Noronha, do Fabio et Pinto, 1978 and Slendrorhynchus Amin et Soy, 1996) are discussed. It is concluded that all but Pararhadinorhynchus, two species of Diplosentis and Amapacanthus can be accommodated elsewhere satisfactorily. A new family, Transvenidae, is proposed for a small group of acanthocephalans that genuinely possess only two cement glands. Transvena annulospinosa gen. n., sp. n. is described from the labrids Anampses neoguinaicus Bleeker, 1878 (type host), A. geographicus Valenciennes, 1840, A. caeruleopunctatus Ruppell, 1829, Hemigymnus fasciatus (Bloch, 1792), and H. melapterus (Bloch, 1791) from the Great Barrier Reef, Queensland, Australia. Transvena gen. n. is distinguished from all other acanthocephalan genera by having a combination of a single ring of small spines on its trunk near or at the junction between the neck and trunk, two cement glands, a double-walled proboscis receptacle and hooks which decrease in length from the apex to the base of the proboscis. A second new genus within the Transvenidae, Trajectura, is proposed for T. perinsolens sp. n. from Anampses neoguinaicus, also from the Great Barrier Reef. Trajectura gen. n. is distinguished by the possession of only two cement glands and an anterior conical projection (function unknown) on the females. Diplosentis ikedai Machida, 1992 shares these characters and is recombined as Trajectura ikedai comb. n. Pararhadinorhynchus is transferred to the Transvenidae and Diplosentis manteri Gupta et Fatma, 1979 is recombined as Pararhadinorhynchus manteri comb. n.