4,200 research outputs found
Supplementary material 1 from: Fisher JR, Fisher DM, Skvarla MJ, Nelson WA, Dowling APG (2017) Revision of torrent mites (Parasitengona, Torrenticolidae, Torrenticola) of the United States and Canada: 90 descriptions, molecular phylogenetics, and a key to species. ZooKeys 701: 1-496. https://doi.org/10.3897/zookeys.701.13261
No full textSupplementary material 1 from: Fisher JR, Fisher DM, Skvarla MJ, Nelson WA, Dowling APG (2017) Revision of torrent mites (Parasitengona, Torrenticolidae, Torrenticola) of the United States and Canada: 90 descriptions, molecular phylogenetics, and a key to species. ZooKeys 701: 1-496. https://doi.org/10.3897/zookeys.701.1326
Loose anagen hair syndrome in two patients with epidermolysis bullosa simplex, Dowling-Meara type
No full textTo the Editor: We describe two patients with epidermolysis bullosa simplex, Dowling-Meara type (EBS-DM), who also have loose anagen hair syndrome (LAHS). EBS-DM is a severe form of EBS marked by widespread herpetiform blistering, worse during infancy.1 LAHS is diagnosed by the ability to painlessly extract anagen hairs from the scalp that lack an external root sheath and demonstrate cuticle ruffling distal to a misshapen bulb.2 The hair is typically sparse and seldom requires cutting.2 An association between these entities has not previously been reported, to our knowledge
Three Severe Cases of EBS Dowling-Meara Caused by Missense and Frameshift Mutations in the Keratin 14 Gene
No full textWe report three unrelated patients affected at birth with an unusually severe form of epidermolysis bullosa simplex Dowling-Meara type (EBS-DM) because of mutations in KRT14 encoding keratin 14. Two patients were heterozygous for the previously described p.M119T mutation. The third patient was heterozygous for a novel c.1246delC mutation predicting the replacement of the helix termination peptide and the tail domain by a 25 amino-acid aberrant carboxyterminal sequence. At age 2 years, patients carrying the p.M119T mutation still suffered from severe EBS-DM, whereas the patient harboring the c.1246delC mutation has improved over time. These cases illustrate genotype–phenotype correlations and have implications for genetic counselling of EBS
A Keratin 14 Mutational Hot Spot for Epidermolysis Bullosa Simplex, Dowling-Meara: Implications for Diagnosis
No full textRecently, two patients with the Dowling-Meara subtype of epidermolysis bullosa simplex (EBS-DM) were reported with different mutations in codon 125 of the keratin 14 gene. To determine whether these are common mutations, we screened ten EBS-DM patients and their families using single nucleotide primer extension. Four of ten unrelated EBS-DM patients had a G→A substitution at base pair 434 of codon 125, whereas one case out often had a C→T substitution at position 433 of the same codon. The G434A alteration cosegregated with the disorder in two multigenerational families; no recombination events were detected. In these two families, linkage analysis provided significant evidence in favor of linkage between G434A and the EBS-DM phenotype, with a LOD score of 3.29 at a recombination rate of 0%. Codon 125 substitutions identified in three unrelated sporadic EBS-DM patients were not found in their clinically unaffected parents. Together, these data provide compelling genetic evidence that the codon 125 substitutions are causal for EBS-DM. The high frequency of mutation at this site in individuals with EBS-DM now makes DNA-based diagnosis of this disorder feasible
Extensive acantholysis as the major histological feature of a severe case of Dowling Meara-epidermolysis bullosa simplex: a reappraisal of acantholysis in the newborn
No full textEpidermolysis bullosa (EB) is a heterogeneous group of inherited skin disorders characterized by blistering and skin fragility secondary to mechanical trauma. Epidermolysis bullosa simplex (EBS) is the most frequent form of EB, with Dowling-Meara (DM-EBS) subtype being the most severe form in this group. Conventional histopathological evaluation is usually of low value in the diagnosis of EB, and significant histological features have rarely been reported in this group of diseases. We describe a case of severe DM-EBS in which acantholysis was observed in the histological examination. This finding led us to consider other diagnoses, such as neonatal pemphigus vulgaris or lethal acantholytic EB. Histological, immunological, ultrastructural and genetic tests were performed, leading to a final diagnosis of DM-EBS. Therefore, we believe that DM-EBS should be considered in the differential diagnosis of a newborn with blisters, where acantholysis is the main histological feature
A Case of Epidermolysis Bullosa Simplex (Dowling-Meara 1 Type) in Newborn
No full textEpidermolysis bullosa is a rare genetic skin disease in which skin easily peels off and blisters are formed with mild mechanical trauma. It is classified into simple, borderline, dysmorphic, and mixed type. These four subtypes are further classified according to the location of gene mutation and genetic patterns. Epidermolysis bullosa simplex (EBS) is characterized by separation in the epidermal or subepidermal layer. And it is mostly caused by mutation of keratin 5 (KRT5) and KRT14 genes. Recently, genetic test has become increasingly important for diagnosis, confirming subtypes and genetic counseling. And there are moderate correlation exists between the EBS phenotype and genotype. Here, we report a case of 2-day-old boy with EBS Dowling-Meara type (EBS-DM) diagnosed by mutation analysis in KRT14
Seismic strengthening of adobe-mudbrick houses
No full textUniversity of Technology, Sydney. Faculty of Engineering.EXECUTIVE SUMMARY
This thesis presents the research and development of a low-cost, low-tech reinforcement
system to improve the earthquake resistance of adobe mud brick houses. The outcome
of this research project is a reinforcement system which can be readily implemented by
rural homeowners in developing countries using locally available resources (materials,
tools and skills), without the need for ongoing external support. The proposed
reinforcement system incorporates bamboo poles placed vertically against the walls, and
connected with through-wall string ties, and strands of wire running horizontally. A
continuous timber ring beam is placed on top of the walls. The system can be used for
new-build constructions, as well as for the retrofit-strengthening of existing dwellings.
The system has the potential to substantially and sustainably reduce the vulnerability of
traditional adobe houses around the world
Epidermolysis Bullosa Simplex (Dowling-Meara Type) Is a Genetic Disease Characterized by an Abnormal Keratin-Filament Network Involving Keratins K5 and K14
No full textThe distribution and morphology of tonofilament (TF) clumps were examined by light and electron microscopy in skin samples from a total of 17 patients with the Dowling-Meara (DM) form of epidermolysis bullosa simplex (EBS). TF clumps extending from the basal to the upper-spinous epidermal layer were seen in all lesional skin samples and in the majority of peri-lesional and non-lesional skin samples. TF clumps were also noted in adnexal epithelia, including outer hair root sheaths, sweat ducts, and sebaceous glands. Cultured keratinocytes from two patients also demonstrated characteristics TF clumps. All these epithelial cells have in common their expression of the keratin pair K5 and K14. Post-embedding immunogold electron microscopy using antibodies to K5, K14, and K10 showed similar expressed keratins in DM-EBS skin from four patients compared with normal skin, with K5 and K14 predominantly in the basal cell layer and K10 in the suprabasal layers. The clumped TF in DM-EBS samples were labeled strongly with anti-K5 and K14 antibodies in the basal and suprabasal layers. In contrast, the suprabasal clumps were only slightly reactive with anti-K10 antibodies and labeling was usually restricted to the periphery of the clumps. We conclude that DM-EBS is associated with an intrinsic abnormality of the keratin-filament network involving the K5 and K14 pair that is likely to result in impaired resistance of basal epidermal cells to external shearing forces, leading to the characteristics interaepidermal blisters. DM-EBS may become the first genetic skin disease to be recognized as having a specific keratin abnormality
Entanglement and quantity in quantum space - About quantum measurement (II)
No full textAs a continuation and extension of "quantity in phase space" "quantity in quantum space" is introduced. With that, the disappearing of quantum interference discussed in a previous paper [S. Durr, et al., Nature 395 (1998) 33] is explained in the same spirit as our recent papers [Ren De-Ming, Commun. Theor. Phys. (Beijing, China) 41 (2004) 685, 833].Physics, MultidisciplinarySCI(E)中国科学引文数据库(CSCD)1ARTICLE133-364
Sneutrino DM in the NMSSM with inverse seesaw mechanism
No full textIn supersymmetric theories like the Next-to-Minimal Supersymmetric Standard Model (NMSSM), the lightest neutralino with bino or singlino as its dominant component is customarily taken as dark matter (DM) candidate. Since light Higgsinos favored by naturalness can strength the couplings of the DM and thus enhance the DM-nucleon scattering rate, the tension between naturalness and DM direct detection results becomes more and more acute with the improved experimental sensitivity. In this work, we extend the NMSSM by inverse seesaw mechanism to generate neutrino mass, and show that in certain parameter space the lightest sneutrino may act as a viable DM candidate, i.e. it can annihilate by multi-channels to get correct relic density and meanwhile satisfy all experimental constraints. The most striking feature of the extension is that the DM-nucleon scattering rate can be naturally below its current experimental bounds regardless of the higgsino mass, and hence it alleviates the tension between naturalness and DM experiments. Other interesting features include that the Higgs phenomenology becomes much richer than that of the original NMSSM due to the relaxed constraints from DM physics and also due to the presence of extra neutrinos, and that the signatures of sparticles at colliders are quite different from those with neutralino as DM candidate.National Natural Science Foundation of China (NNSFC) [11575053]SCI(E)ARTICLE1
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