Heterogeneity evidence and linkage studies on Charcot-Marie-Tooth disease

Charcot-Marie-Tooth neuropathy type 1 (CMT1) is an autosomal dominant disorder originally localized to chromosome 1 by linkage to the Duffy blood group. Studies have since shown that the disorder may be heterogeneous, as not all families show this linkage. We tested genetic heterogeneity by the HOMOG computer program in 15 CMT1 pedigrees informative for Duffy. We detected no evidence for heterogeneity in this sample, but when we combined results with previously published lod scores, heterogeneity was statistically significant. Twelve of the 15 families studied did not show linkage to Duffy. We found six of these families to be informative for a chromosome 19 marker, apolipoprotein CII(ApoC2). Despite a previous report showing probable linkage of a non-Duffy-linked CMT1 pedigree to two chromosome 19 markers, we did not detect significant linkage of ApoC2 to CMT1 in these families.

Isolation and use of chromosome 1 probes for linkage studies on Charcot-Marie-Tooth disease

Nine probes were isolated from a human chromosome 1 enriched library and mapped to regions of chromosome 1 using somatic cell hybrid lines. One clone, LR67, which mapped 1q12→q23 detected a BglI RFLP. This probe, as well as 4 other known chromosome 1 markers, α-spectrin, Factor XIIIB, DR10 and DR78, were used for linkage studies in 15 Charcot-Marie-Tooth disease (CMT1) families. Close linking of CMT1 to any of the 5 markers was not indicated. Total lod scores excluded linkage of CMT1 to LR67 and to DR10 at 5 cM or less, to DR78 and 10 cM or less, α-spectrin at 15 cM or less and Factor XIIIB at 20 cM or less. Possible linkage, however, was shown between LR67 and CMT1 at a distance of 30 cM. Also linkage at a distance of 5 cM was detected between this probe and α-spectrin.

DNA probes in Charcot-Marie-Tooth neuropathy

Results of Duffy (Fy) linkage confirm genetic heterogeneity in Charcot-Marie-Tooth disease type 1 (CMT1). Of 11 families informative for Fy, four showed probable linkage with CMT1, seven showed probable non-linkage and two showed definite non-linkage. These results suggest that Fy linked CMT1 may be less common than previously thought. These results combined with those of another DNA probe for the antithrombin III gene confirm that there are at least two gene loci for CMT1, termed 1A and 1B.

Anatomy of sand beach ridges : evidence from severe Tropical Cyclone Yasi and its predecessors, northeast Queensland, Australia

[1] Four well-identified tropical cyclones over the past century have been responsible for depositing distinct units of predominantly quartzose sand and gravel to form the most seaward beach ridge at several locations along the wet tropical coast of northeast Queensland, Australia. These units deposited by tropical cyclones display a key sedimentary signature characterized by a sharp basal erosional contact, a coarser grain size than the underlying facies and a coarse-skewed trend toward the base. Coarse-skewed distributions with minimal change in mean grain size also characterize the upper levels of the high-energy deposited units at locations within the zone of maximum onshore winds during the tropical cyclone. These same coarse skew distributions are not apparent in sediments deposited at locations where predominantly offshore winds occurred during the cyclone, which in the case of northeast Australia is north of the eye-crossing location. These sedimentary signatures, along with the geochemical indicators and the degraded nature of the microfossil assemblages, have proven to be useful proxies to identify storm-deposited units within the study site and can also provide useful proxies in older beach ridges where advanced pedogenesis has obscured visual stratigraphic markers. As a consequence, more detailed long-term histories of storms and tropical cyclones can now be developed.

CT Anatomy for Radiotherapy

Knowledge of CT anatomy is increasingly vital in daily radiotherapy practice, especially with more widespread use of cross-sectional image-guided radiotherapy (IGRT) techniques. Existing CT anatomy texts are predominantly written for the diagnostic practitioner and do not always address the radiotherapy issues while emphasising structures that are not common to radiotherapy practice. CT Anatomy for Radiotherapy is a new radiotherapy-specific text that is intended to prepare the reader for CT interpretation for both IGRT and treatment planning. It is suitable for undergraduate students, qualified therapy radiographers, dosimetrists and may be of interest to oncologists and registrars engaged in treatment planning. All essential structures relevant to radiotherapy are described and depicted on 3D images generated from radiotherapy planning systems. System-based labelled CT images taken in relevant imaging planes and patient positions build up understanding of relational anatomy and CT interpretation. Images are accompanied by comprehensive commentary to aid with interpretation. This simplified approach is used to empower the reader to rapidly gain image interpretation skills. The book pays special attention to lymph node identification as well as featuring a unique section on Head and Neck Deep Spaces to help understanding of common pathways of tumour spread. Fully labelled CT images using radiotherapy-specific views and positioning are complemented where relevant by MR and fusion images. A brief introduction to image interpretation using IGRT devices is also covered. The focus of the book is on radiotherapy and some images of common tumour pathologies are utilised to illustrate some relevant abnormal anatomy. Short self-test questions help to keep the reader engaged throughout.

Retinal anatomy of the New Zealand kiwi: Structural traits consistent with their nocturnal behavior

Kiwi (Apteryx spp.) have a visual system unlike that of other nocturnal birds, and have specializations to their auditory, olfactory and tactile systems. Eye size, binocular visual fields and visual brain centers in kiwi are proportionally the smallest yet recorded among birds. Given the many unique features of the kiwi visual system, we examined the laminar organization of the kiwi retina to determine if they evolved increased light sensitivity with a shift to a nocturnal niche or if they retained features of their diurnal ancestor. The laminar organization of the kiwi retina was consistent with an ability to detect low light levels similar to that of other nocturnal species. In particular, the retina appeared to have a high proportion of rod photoreceptors compared to diurnal species, as evidenced by a thick outer nuclear layer, and also numerous thin photoreceptor segments intercalated among the conical shaped cone photoreceptor inner segments. Therefore, the retinal structure of kiwi was consistent with increased light sensitivity, although other features of the visual system, such as eye size, suggest a reduced reliance on vision. The unique combination of a nocturnal retina and smaller than expected eye size, binocular visual fields and brain regions make the kiwi visual system unlike that of any bird examined to date. Whether these features of their visual system are an evolutionary design that meets their specific visual needs or are a remnant of a kiwi ancestor that relied more heavily on vision is yet to be determined.

The anatomy of the bill tip of kiwi and associated somatosensory regions of the brain : comparisons with shorebirds

Three families of probe-foraging birds, Scolopacidae (sandpipers and snipes), Apterygidae (kiwi), and Threskiornithidae (ibises, including spoonbills) have independently evolved long, narrow bills containing clusters of vibration-sensitive mechanoreceptors (Herbst corpuscles) within pits in the bill-tip. These ‘bill-tip organs’ allow birds to detect buried or submerged prey via substrate-borne vibrations and/or interstitial pressure gradients. Shorebirds, kiwi and ibises are only distantly related, with the phylogenetic divide between kiwi and the other two taxa being particularly deep. We compared the bill-tip structure and associated somatosensory regions in the brains of kiwi and shorebirds to understand the degree of convergence of these systems between the two taxa. For comparison, we also included data from other taxa including waterfowl (Anatidae) and parrots (Psittaculidae and Cacatuidae), non-apterygid ratites, and other probe-foraging and non probe-foraging birds including non-scolopacid shorebirds (Charadriidae, Haematopodidae, Recurvirostridae and Sternidae). We show that the bill-tip organ structure was broadly similar between the Apterygidae and Scolopacidae, however some inter-specific variation was found in the number, shape and orientation of sensory pits between the two groups. Kiwi, scolopacid shorebirds, waterfowl and parrots all shared hypertrophy or near-hypertrophy of the principal sensory trigeminal nucleus. Hypertrophy of the nucleus basorostralis, however, occurred only in waterfowl, kiwi, three of the scolopacid species examined and a species of oystercatcher (Charadriiformes: Haematopodidae). Hypertrophy of the principal sensory trigeminal nucleus in kiwi, Scolopacidae, and other tactile specialists appears to have co-evolved alongside bill-tip specializations, whereas hypertrophy of nucleus basorostralis may be influenced to a greater extent by other sensory inputs. We suggest that similarities between kiwi and scolopacid bill-tip organs and associated somatosensory brain regions are likely a result of similar ecological selective pressures, with inter-specific variations reflecting finer-scale niche differentiation.

MRI of postmortem specimens of endangered species for comparative brain anatomy

Many of the 5,500 threatened species of vertebrates found worldwide are highly protected and generally unavailable for scientific investigation. Here we describe a noninvasive protocol to visualize the structure and size of brain in postmortem specimens. We demonstrate its utility by examining four endangered species of kiwi (Apteryx spp.). Frozen specimens are thawed and imaged using MRI, revealing internal details of brain structure. External brain morphology and an estimate of brain volume can be reliably obtained by creating 3D models. This method has facilitated a comparison of brain structure in the different kiwi species, one of which is on the brink of extinction. This new approach has the potential to extend our knowledge of brain structure to species that have until now been outside the reach of anatomical investigation.

Foliar micromorphology and anatomy of Ugni molinae Turcz. (Myrtaceae), with particular reference to schizogenous secretory cavities

Background Ugni molinae Turcz. is one of the most studied species of South American Myrtaceae due to its edible fruits and foliar medicinal compounds. However, there is no anatomical study of the leaves or secretory cavities. This paper seeks to describe the leaf micromorphology and anatomy of the species using standard protocols for light and scanning electron microscopy. Secretory cavities were anatomically characterized in young and mature leaves. Histochemical staining of the cavities was performed. Results The leaves of U. molinae are hypostomatic, have a wavy surface and possess scattered hairs. Leaf anatomical features include dorsiventral mesophyll, two to three layers of palisade parenchyma with abundant chloroplasts, calcium oxalate crystals and internal phloem in vascular bundles. Schizogenous secretory cavities are present on the abaxial surface and are mainly located on the margins of the leaves. Histochemical tests of these cavities suggest the presence of lipophilic substances. Conclusions This is the first study of secretory cavities in Chilean Myrtaceae. In general, micromorphological and anatomical characters are similar to other species of the family. The present findings could provide valuable anatomical information for future research in South American Myrtaceae.

Leaf micromorphology and anatomy of Myrceugenia rufa (Myrtaceae): An endemic coastal shrub of north-central Chile

Species of fleshy-fruited Myrtaceae are generally associated with humid environments and their vegetative anatomy is mainly mesophytic. Myrceugenia rufa is an endemic and rare species from arid zones of the coast of central Chile and there are no anatomical studies regarding its leaf anatomy and environmental adaptations. Here we describe the leaf micromorphology and anatomy of the species using standard protocols for light and scanning electron microscopy. The leaf anatomy of M. rufa matches that of other Myrtaceae, such as presence of druses, schizogenous secretory ducts and internal phloem. Leaves of M. rufa exhibit a double epidermis, thick cuticle, abundant unicellular hairs, large substomatal chambers covered by trichomes and a dense palisade parenchyma. Leaf characters of M. rufa confirm an anatomical adaptation to xerophytic environments.

Micromorphology and anatomy of leaves of Syzygium floribundum (Myrtaceae: Syzygieae), a rainforest tree endemic to eastern Australia

Although species of Syzygium are abundant components of the rainforests in Queensland and New South Wales, little is known about the anatomy of the Australian taxa. Here we describe the foliar anatomy and micromorphology of Syzygium floribundum (syn: Waterhousea floribunda) using standard protocols for scanning electron microscopy (SEM) and light microscopy. Syzygium floribundum possesses dorsiventral leaves with cyclo-staurocytic stomata, single epidermis, internal phloem, rhombus-shaped calcium oxalate crystals and complex-open midrib. In general, leaf anatomical and micromorphological characters are common with some species of the tribe Syzygieae. However, this particular combination of leaf characters has not been reported in a species of the genus. The anatomy of the species is typical of mesophytic taxa.

Anatomy of a trending topic : Methods for the visualisation of retweet chains [Anatomie eines Trending Topics: Methoden zur Visualisierung von Retweet-Ketten]

Twitter and other social networking sites play an ever more present role in the spread of current events. The dynamics of information dissemination through digital network structures are still relatively unexplored, however. At what time an issue is taken up by whom? Who forwards a message when to whom else? What role do individual communication participants, existing digital communities or the technical foundations of each network platform play in the spread of news? In this chapter we discuss, using the example of a video on a current sociopolitical issue in Australia that was shared on Twitter, a number of new methods for the dynamic visualisation and analysis of communication processes. Our method combines temporal and spatial analytical approaches and provides new insights into the spread of news in digital networks. [Social media dienen immer häufger als Disseminationsmechanismen für Medieninhalte. Auf Twitter ermöglicht besonders die Retweet-Funktion den schnellen und weitläufgen Transfer von Nachrichten. In diesem Beitrag etablieren neue methodische Ansätze zur Erfassung, Visualisierung und Analyse von Retweet-Ketten. Insbesondere heben wir hervor, wie bestehende Netzwerkanalysemethoden ergänzt werden können, um den Ablauf der Weiterleitung sowohl temporal als auch spatial zu erfassen. Unsere Fallstudie demonstriert die verbreitung des videoclips einer am 9. Oktober 2012 spontan gehaltenen Wutrede der australischen Premierministerin Julia Gillard, in der sie Oppositionsführer Tony Abbott als Frauenhasser brandmarkte. Durch die Erfassung von Hintergrunddaten zu den jeweiligen NutzerInnen, die sich an der Weiterleitung des Videoclips beteiligten, erstellen wir ein detailliertes Bild des Disseminationsablaufs im vorliegenden Fall. So lassen sich die wichtigsten AkteurInnen und der Ablauf der Weiterleitung darstellen und analysieren. Daraus entstehen Einblicke in die allgemeinen verbreitungsmuster von Nachrichten auf Twitter].

Consent for third molar tooth extractions in Australia and New Zealand: A review of current practice

Background Informed consent is the legal requirement to educate a patient about a proposed medical treatment or procedure so that he or she can make informed decisions. The purpose of the study was to examine the current practice for obtaining informed consent for third molar tooth extractions (wisdom teeth) by Oral and Maxillofacial Surgeons in Australia and New Zealand. Methods An online survey was sent to 180 consultant Oral and Maxillofacial Surgeons in Australia and New Zealand. Surgeons were asked to answer (yes/no) whether they routinely warned of a specific risk of third molar tooth extraction in their written consent. Results 71 replies were received (39%). The only risks that surgeons agreed should be routinely included in written consent were a general warning of infection (not alveolar osteitis), inferior alveolar nerve damage (temporary and permanent) and lingual nerve damage (temporary and permanent). Conclusions There is significant variability among Australian and New Zealand Oral and Maxillofacial Surgeons regarding risk disclosure for third molar tooth extractions. We aim to improve consistency in consent for third molar extractions by developing an evidence-based consent form.

Comparative leaf anatomy and micromorphology of the Chilean Myrtaceae: Taxonomic and ecological implications

The family Myrtaceae in Chile comprises 26 species in 10 genera. The species occur in a diverse rangeof environments including humid temperate forests, swamps, riparian habitats and coastal xeromorphicshrublands. Most of these species are either endemic to Chile or endemic to the humid temperate forestsof Chile and Argentina. Although many taxa have very restricted distributions and are of conservationconcern, little is known about their biology and vegetative anatomy. In this investigation, we describe andcompare the leaf anatomy and micromorphology of all Chilean Myrtaceae using standard protocols forlight and scanning electron microscopy. Leaf characters described here are related to epidermis, cuticle,papillae, stomata, hairs, mesophyll, crystals, secretory cavities and vascular system. Nearly all the specieshave a typical mesophytic leaf anatomy, but some species possess xerophytic characters such as doubleepidermis, hypodermis, pubescent leaves, thick adaxial epidermis and straight epidermal anticlinal walls,which correlate with the ecological distribution of the species. This is the first report on leaf anatomyand micromorphology in most of these species. We identified several leaf characters with potential tax-onomic and ecological significance. Some combinations of leaf characters can reliably delimitate genera,while others are unique to some species. An identification key using micromorphological and anatomicalcharacters is provided to distinguish genera and species.