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Unusual Combination (unusual + combination)
Selected AbstractsCharcot-Marie-Tooth neuropathy type 1A combined with Duchenne muscular dystrophyEUROPEAN JOURNAL OF NEUROLOGY, Issue 10 2007P. Vondracek We report a 24-year-old male with an unusual combination of two inherited neuromuscular disorders , Charcot-Marie-Tooth (CMT) disease type 1A and Duchenne muscular dystrophy (DMD). A phenotypic presentation of this patient included features of both these disorders. Nerve conduction studies revealed demyelinating peripheral neuropathy. Electromyography showed a profound myogenic pattern. The serum creatine kinase level was highly elevated. Muscle biopsy revealed a dystrophic picture with deficient dystrophin immunostaining. CMT1A duplication on chromosome 17p11.2 was found. The frame-shift mutation c.3609,3612delTAAAinsCTT (p.K1204LfsX11) was detected in the dystrophin gene by analysing mRNA isolated from the muscle tissue. The patient inherited both these mutations from his mother. The combination of CMT1A and DMD has not been reported as yet. [source] Nanoporous Gold Leaf: "Ancient Technology"/Advanced Material,ADVANCED MATERIALS, Issue 21 2004Y. Ding A free-standing nanoporous gold (NPG) membrane is made by dealloying commercially available white-gold leaf in nitric acid (see Figure). This porous material has an unusual combination of characteristics in that it is metallic with a continuous crystal lattice throughout the porous network, and has a pore size that is adjustable via simple room-temperature post-processing. This ultra-high-surface-area material is potentially very useful for applications such as electrocatalysis and sensing. [source] The relationship of oocyte diameter and incubation temperature to incubation time in temperate freshwater fish speciesJOURNAL OF FISH BIOLOGY, Issue 3 2009F. Teletchea Based on the analysis of six egg variables and incubation temperature of 65 temperate freshwater fish species, the possible relationships between oocyte diameter, incubation time and incubation temperature were reassessed and compared to the results obtained from marine fishes. Most freshwater species have eggs (mean ±s.d. 2·19 ± 1·52 mm) larger than marine species, that are chiefly demersal and develop stuck to various substrata, such as plants or rocks. A strong negative relationship was found between incubation time (t, days) and incubation temperature (T, ° C): t = 186·23e,0·197T (r2= 0·87). A strong dependence of incubation time on oocyte diameter (Ø, mm) and incubation temperature was also found and was defined as: log10t= 3·002 + 0·599 log10Ø, 1·91 log10 (T + 2), which explained 92% of the variance of the data set. Five major groups of species were defined based on the principal component analysis (PCA) of four quantitative variables. There were two distinct groups of salmonids, displaying demersal and non-adhesive eggs with a long incubation time at low temperature, the eggs of which required a high number of degree-days. There was a large group of species possessing small, mostly demersal and adhesive eggs developing at high temperature during a short period of time, and requiring a low number of degree-days. Between these two extremes, there was a fourth group displaying intermediate values and a fifth group including three species with large, adhesive and demersal eggs incubating at high temperatures during a short period of time. The burbot Lota lota displayed an unusual combination of variables compared to the remaining species in the data set. [source] Mutational analysis of HOXD13 and HOXA13 genes in the triphalangeal thumb,brachyectrodactyly syndromeJOURNAL OF ORTHOPAEDIC RESEARCH, Issue 5 2002A. Pérez-Cabrera Abstract The triphalangeal thumb-brachyectrodactyly syndrome is a very rare autosomal dominant disorder of unknown etiology characterized by an unusual pattern of limb malformations: triphalangeal thumbs and brachyectrodactyly in the hands, and ectrodactyly in the feet. In a previous report, we described the clinical and radiographical features of three related subjects with the disease and suggest that due to the unusual combination of limb defects and to its phenotypic similarity with the limb malformative pattern induced by disrupting the Hoxd13 gene in mouse, the triphalangeal thumb-brachyectrodactyly syndrome might be caused by mutations in a HOX gene. After sequencing the entire coding region of HOXD13 and the highly conserved homeodomain encoding region of HOXA13, we do not detect any deleterious mutation in any of the patients excluding that alterations at these sequences are responsible for the disease. Mutations in regulatory regions of these genes or in other genes involved in limb development might be responsible for the disease. © 2002 Orthopaedic Research Society. Published by Elsevier Science Ltd. All rights reserved. [source] Palaeoenvironmental implications of the ichnology and geochemistry of the Westbury Formation (Rhaetian), Westbury-on-Severn, south-west EnglandPALAEONTOLOGY, Issue 3 2010LU ALLINGTON-JONES Abstract:, The Westbury Formation (Rhaetian) beds of Westbury Garden Cliff, Westbury-on-Severn, west of Gloucester, Britain, show an unusual combination of features. Both deep water and emergent characteristics are present within the sediments and the trace fossils. The ichnoassemblage consists of abundant Selenichnites, Planolites beverlyensis and Lockeia with rarer Oniscoidichnus, Chondrites, Rhizocorallium irregulare, Taenidium serpentium, an unusual form of Walcottia and Merostomichnites -like traces. These trace fossils display an interesting relationship with the sediments: low-energy Cruziana ichnofacies is found within high-energy sandstones. The sandstones are interbedded with laminated mudstones, apparently deposited in deep water, but some aspects of the ichnoassemblage, preservation and sedimentation indicate shallower water. One new trace fossil, Radichnus allingtona igen. et isp. nov., closely resembles the traces of modern fiddler crabs and imply emergence, by analogy. This ichnofauna is similar to early stage disaster colonisation in recent experiments in Long Island Sound (south of Connecticut, USA) and with storm-influenced deposits within the Cardium Formation (Seebe, Alberta, Canada). This indicates a lagoonal environment with influxes of sand and oxygen. Total organic carbon levels were found to fluctuate greatly between stratigraphic layers but remained relatively high. This implies low oxygen conditions. The abundance of sulphur (in pyrite) also supports an interpretation of anoxic conditions, and low sedimentation rates within the shale layers. A restricted shallow basin or lagoonal environment is proposed for the palaeoenvironment, with fluctuating oxygen influencing diversity. [source] Investigation of the structure and phase transitions in the novel A-site substituted distorted perovskite compound Na0.5Bi0.5TiO3ACTA CRYSTALLOGRAPHICA SECTION B, Issue 2 2002G. O. Jones Rietveld neutron powder profile analysis of the compound Na0.5Bi0.5TiO3 (NBT) is reported over the temperature range 5,873,K. The sequence of phase transitions from the high-temperature prototypic cubic structure (above 813,K), to one of tetragonal (673,773,K) and then rhombohedral structures (5,528,K) has been established. Coexisting tetragonal/cubic (773,813,K) and rhombohedral/tetragonal (with an upper temperature limit of 145,K between 528 and 673,K) phases have also been observed. Refinements have revealed that the rhombohedral phase, space group R3c, with aH = 5.4887,(2), cH = 13.5048,(8),Å, V = 352.33,(3),Å3, Z = 6 and Dx = 5.99,Mg,m,3, exhibits an antiphase, a,a,a, oxygen tilt system, , = 8.24,(4)°, with parallel cation displacements at room temperature. The tetragonal phase, space group P4bm, with aT = 5.5179,(2), cT = 3.9073,(2),Å, V = 118.96,(1),Å3, Z = 2 and Dx = 5.91,Mg,m,3, possesses an unusual combination of in-phase, a0a0c+ oxygen octahedra tilts, , = 3.06,(2)°, and antiparallel cation displacements along the polar axis. General trends of cation displacements and the various deviations of the octahedral network from the prototypic cubic perovskite structure have been established and their systematic behaviour with temperature is reported. An investigation of phase transition behaviour using second harmonic generation (SHG) to establish the centrosymmetric or non-centrosymmetric nature of the various phases is also reported. [source] An unusual polycatenating network self-assembled by the 2D , 2D parallel , 3D parallel interpenetration of coordinative and hydrogen-bonded (6,3) motifsACTA CRYSTALLOGRAPHICA SECTION C, Issue 4 2010Suna Wang In the title coordination compound, catena -poly[[[bis[diaquacadmium(II)]-,2 - trans -1,2-bis(4-pyridyl)ethene]bis{,2 -2,2,-[(5-carboxymethoxy- m -phenylene)dioxy]diacetato}] trans -1,2-bis(4-pyridyl)ethene solvate dihydrate], {[Cd2(C12H10O9)2(C12H10N2)(H2O)4]·C12H10N2·2H2O}n, (I), each CdII centre adopts a pentagonal,bipyramidal coordination geometry. The incompletely deprotonated 2,2,-[(5-carboxymethoxy- m -phenylene)dioxy]diacetate (TCMB) ligands and trans -1,2-bis(4-pyridyl)ethene (bpe) ligands both act as bidentate bridges, linking the CdII centres into one-dimensional ladders, which are connected into an undulating two-dimensional (6,3) layer through O,H...N hydrogen bonds between the carboxylate groups of the TCMB ligands and the N atoms of the uncoordinated bpe ligands. Each undulating layer polycatenates two other identical layers, exhibiting the unusual combination of both 2D , 2D parallel and 2D , 3D parallel interpenetration (2D and 3D are two- and three-dimensional, respectively). [source] A FAITH-BASED MENTAL HEALTH AND DEVELOPMENT PROJECT FOR SLUM DWELLERS IN BRAZILANNALS OF ANTHROPOLOGICAL PRACTICE, Issue 1 2010Sidney M. Greenfield This article describes a mental health and development program being carried out under the direction of a Comboni Missionary who is an ordained Roman Catholic priest from Italy and a medical doctor presently completing a Ph.D. in psychiatry in Brazil. It is based on a theoretical framework that integrates the cultural and religious backgrounds of migrants coming into the slums of Brazilian cities with a form of group therapy based on the assumptions of Liberation Theology and the teachings of Paulo Freire that was developed by Prof. Adalberto Barreto, a practicing Brazilian trained M.D.,psychiatrist with European Ph.D.s in psychiatry and anthropology. This unusual combination of anthropological insight combined with a unique approach to group psychotherapy, rooted in a humanistic approach to religion, has resulted in an extremely effective development program that is beginning to be applied in slum areas in other parts of Brazil and elsewhere. [source] Conservation of natural wilderness values in the Port Davey marine and estuarine protected area, south-western TasmaniaAQUATIC CONSERVATION: MARINE AND FRESHWATER ECOSYSTEMS, Issue 3 2010Graham J. Edgar Abstract 1.Port Davey and associated Bathurst Harbour in south-western Tasmania represent one of the world's most anomalous estuarine systems owing to an unusual combination of environmental factors. These include: (i) large uninhabited catchment protected as a National Park; (ii) ria geomorphology but with fjord characteristics that include a shallow entrance and deep 12-km long channel connecting an almost land-locked harbour to the sea; (iii) high rainfall and riverine input that generate strongly-stratified estuarine conditions, with a low-salinity surface layer and marine bottom water; (iv) a deeply tannin-stained surface layer that blocks light penetration to depth; (v) very low levels of nutrients and low aquatic productivity; (vi) weak tidal influences; (vii) marine bottom water with stable temperature throughout the year; (viii) numerous endemic species; (ix) strongly depth-stratified benthic assemblages exhibiting high compositional variability over small spatial scales; (x) deepsea species present at anomalously shallow depths; (xi) no conspicuous introduced taxa; (xii) a predominance of fragile sessile invertebrates, including slow-growing fenestrate bryozoans; and (xii ) sponge spicule- and bryozoan-based sediments that are more characteristic of deep sea and polar environments than those inshore. 2.Although this region has historically been protected by its isolation, seven major anthropogenic stressors now threaten its natural integrity: boating, fishing, dive tourism, nutrient enrichment, introduced species, onshore development, and global climate change. These threats are not randomly distributed but disproportionately affect particular habitat types. 3.For management of environmental risk, the Port Davey,Bathurst Harbour region is subdivided into six biophysical zones, each with different ecological characteristics, values, and types and levels of potential threat. In response to the various threats, the Tasmanian Government has enacted an adaptive management regime that includes a multi-zoned marine protected area and the largest ,no-take' estuarine protected area in Australia. Copyright © 2009 John Wiley & Sons, Ltd. [source] Disseminated blue naevus and malignant blue naevus associated with excessive aromatase syndromeCLINICAL & EXPERIMENTAL DERMATOLOGY, Issue 5 2008A. Z. C. Lobo Summary We report a case of a 17-year-old boy who had a giant congenital blue naevus with multiple satellite pigmented lesions. Later the patient developed melanoma arising in the pre-existing lesion. He also had gynaecomastia and was diagnosed as having aromatase excess syndrome. To our knowledge, the association of these two rare conditions has not been previously reported. Further studies should be performed to investigate this unusual combination, which may have a genetic, endocrine or local cutaneous link leading to its occurrence. [source] | |||||||||||||||||||