scholarly journals H63D: The Other Mutation (2021 version)

2021 ◽  
Author(s):  
Dr. Carolina Diamandis ◽  
David Seideman ◽  
Smith Lucas
Keyword(s):  
The Other ◽  
Hfe Gene ◽  
H63d Mutation ◽  
New Findings ◽  
Seminal Article

In 2010, the Iron Disorders Institute published the first seminal article on the underestimated risk of a homozygous HFE gene H63D mutation. This short but important article has lost none of its relevance. Since it is in danger of being forgotten and disappearing from more and more websites, we are publishing a reprint of the still seminal article, expanded with some new findings.

scholarly journals Dermoscopic aspect of verrucous epidermal nevi: New findings

2019 ◽  
Author(s):  
ÖMER FARUK ELMAS ◽  
NECMETTİN AKDENİZ
Keyword(s):  
Polarized Light ◽  
Diagnostic Methods ◽  
The Other ◽  
Diagnostic Process ◽  
Fine Scale ◽  
Epidermal Nevus ◽  
Clinical Interpretation ◽  
New Findings ◽  
Clinical Variants ◽  
Histopathological Investigation

Background and Aim: Verrucous epidermal nevi are cutaneous hamartomas having many clinical variants. Dermoscopic features of verrucous epidermal nevus have rarely been investigated. We aimed to identify dermoscopic findings of the entity which will facilitate the diagnostic process by reducing the use of invasive diagnostic methods. Material and Methods: The study included the patients with histopathologically approved verrucous epidermal nevus. Clinical, dermoscopic and histopathological features of the patients were retrospectively reviewed and the findings identified were recorded. Dermoscopic examination was performed with a polarized-light handheld dermoscope with 10-fold magnification. Results: The most common dermoscopic features were thick brown circles, thick brown branched lines and terminal hairs. The most common vessel pattern was dotted vessels. Branched thick brown lines, brown globules, brown dots forming lines, serpiginous brown dots, white and brown exophytic papillary structures, fine scale, thick adherent scale and cerebriform structures were the other findings. Conclusion: We observed many vascular and non-vascular dermoscopic findings which have not been described previously for the entity. Dermoscopic examination of the verrucous epidermal nevi may lead more reliable clinical interpretation and thus it may reduce the need for histopathological investigation. Keywords: dermoscopy, large brown circles, verrucous epidermal nevus

Two new Gammarus species (Crustacea: Amphipoda: Gammaridae) from Zagros Mountains, Iran

Zootaxa ◽  
2011 ◽  
Vol 2894 (1) ◽  
pp. 39 ◽  
Author(s):  
MARYAM HEKMATARA ◽  
ALIREZA SARI ◽  
MOHAMMAD-HADI HEIDARY BALADEHI
Keyword(s):  
New Species ◽  
Geographical Distribution ◽  
Anterior Margin ◽  
Gammarus Pulex ◽  
The Other ◽  
Zagros Mountains ◽  
Remarkable Feature ◽  
New Findings ◽  
Two New Species ◽  
Morphological Differences

The present study tries to focus on describing two new species belonging to genus Gammarus from western Iran along the Zagros Mountains range. The most remarkable feature of Gammarus hegmatanensis sp. n. is the shape of epimeral plate 3, which is sharply pointed posteriorly with a distinct lobate anterior margin. This species has some similarities with and differences from some other species of Gammarus pulex–group such as G. parthicus and G. syriacus. The other species, G. sirvannus sp. n. with elongated eyes is similar to G. duebeni, G. lobifer, G. balutchi and G. loeffleri, but it shows prominent morphological differences and a distinct geographical distribution from these species. These new findings shed more light on the information available on amphipod fauna of Iran.

Clinical significance of HFE gene mutations in patients with refractory anemia with ring sideroblasts (RARS).

2017 ◽  
Vol 35 (15_suppl) ◽  
pp. e18556-e18556
Author(s):  
Rama Nanah ◽  
Mrinal Patnaik ◽  
Naseema Gangat ◽  
Darci Zblewski ◽  
Rong He ◽  
...  
Keyword(s):  
Bone Marrow ◽  
Hereditary Hemochromatosis ◽  
Gene Mutations ◽  
Refractory Anemia ◽  
Heterozygous Mutation ◽  
Hfe Gene ◽  
C282y Mutation ◽  
H63d Mutation ◽  
Ring Sideroblasts ◽  
Hfe Gene Mutations

e18556 Background: RARS is a subtype of myelodysplastic syndromes (MDS) defined by < 5% blasts and ≥15% ring sideroblasts (WHO 2008). Hereditary hemochromatosis is a disorder characterized by dysregulations in iron absorption, largely associated with C282Y and H63D mutations of the HFE gene. Iron levels are elevated in both disorders and pathophysiologic correlations were suggested. HFE gene mutations were previously found higher in MDS compared to controls (50% vs 36%) ( Nearman et al, Am J Hematol 2007). Methods: A total of 168 RARS patients’ data from 1994 to 2015 at Mayo Clinic were reviewed after appropriate IRB approval was obtained. All cases had their bone marrow slides reviewed at our center. We searched patients’ records retrospectively to Identify those tested for HFE gene (C282Y, H62D, S65C) mutations, done inside or outside our institution. Survival estimates were calculated using Kaplan-Meier curves. Results: Out of the 168 RARS patients, only 17 (10%) were tested for HFE gene mutations. Out of the 17 tested, 11 (65%) were found to have mutations; 2 of which (18%) had homozygous H63D mutation, 1 patient (9%) had double heterozygous H63D and C282Y mutations, 5 (45%) had only one H36D heterozygous mutation vs 3 patients (27%) with only one C282Y heterozygous mutation. Only one patient was tested for the additional S65C mutation and it was not detected. H63D mutation was present in a total of 8 patients (73%) vs C282Y mutation which was present in 4 patients (36%). Bone marrow iron stores were increased in all 17 tested patients, except one who had decreased stores, this patient had one heterozygous C282Y mutation. Median overall survival (mOS) was 117 months in the HFE mutated patients vs 75 months in the non-mutated (p = 0.6). Conclusions: Our study found the HFE gene, when tested, to be mutated in higher frequencies among patients with RARS compared to that reported in the general population (65% vs 36%), with H63D mutation in almost three quarters of all mutated patients. Although it did not reach statistical significance, the longer survival observed among HFE mutated patients compared to the wild-type raises the question whether testing for HFE gene mutations among patients with MDS-RARS should be further explored.

Clinical impact of heterozygosity for the C282Y and H63D mutation of the hemochromatosis (HFE) gene in chloroquine treated patients with porphyria cutanea tarda (PCT) in Germany

2001 ◽  
Vol 120 (5) ◽  
pp. A565
Author(s):  
Ulrich Stoelzel ◽  
Andrea Tannapfel ◽  
Detlef Schuppan ◽  
Matthias Richter ◽  
Volker Keim ◽  
...  
Keyword(s):  
Porphyria Cutanea Tarda ◽  
Clinical Impact ◽  
Hfe Gene ◽  
H63d Mutation

New Findings on Sluggish Cognitive Tempo—The Other Attention Disorder

2012 ◽  
Vol 20 (4) ◽  
pp. 1-7
Author(s):  
José J. Bauermeister ◽  
Russell A. Barkley
Keyword(s):  
The Other ◽  
Sluggish Cognitive Tempo ◽  
New Findings ◽  
Attention Disorder ◽  
Cognitive Tempo

Biosynthesis of the lupine alkaloids. II. Sparteine and lupanine

1988 ◽  
Vol 66 (7) ◽  
pp. 1734-1748 ◽  
Author(s):  
W. Marek Golebiewski ◽  
Ian D. Spenser
Keyword(s):  
The Other ◽  
New Findings

Contrary to predictions based on earlier observations, it is now found that label from DL-[6-14C]lysine and from [6-14C]-Δ1-piperideine does not enter the three C5 segments of lupanine with equal efficiency. One of the C5 segments is labelled at a significantly higher level than the other two C5 segments, which show identical levels of labelling. A new biogenetic model is proposed, which is consistent with these new findings as well as with all other regio- and stereochemical evidence on the mode of incorporation of precursors that is available.

scholarly journals A Hungarian and Ukrainian Competitors’ Network: A Spatial Network Analysis Perspective

Urban Science ◽  
2018 ◽  
Vol 2 (4) ◽  
pp. 99 ◽  
Author(s):  
György Jóna
Keyword(s):  
Network Analysis ◽  
Urban Economics ◽  
Small World ◽  
The Other ◽  
Spatial Density ◽  
Spatial Network ◽  
Other Hand ◽  
New Findings ◽  
New Type ◽  
Spatial Network Analysis

In this paper, the spatial dimensions of a transboundary, coopetitive (coopetition: cooperation of rivals) network, established by restaurant owners, are scrutinized empirically by applying advanced toolkits of spatial network analysis (SpNA). The paper emphasizes that the coopetitive network has geographical extensions, and on the other hand, interactions between vertices generate network space. The new type of economic network could thus be analyzed by SpNA to understand the spatial characteristics of a rivals’ network at transboundary level. The paper may be referred to as cutting-edge research, because on one hand, it dissects a new type of economic network (coopetitive networks) and on the other hand, a new method is utilized (SpNA) to study the geographical parameters of inter-firm relationships. This approach emerges as a novel method. As a result, the paper provides significant, fruitful and new findings in both network science and urban economics as well. By employing metrics of SpNA, the main spatial traits of the coopetitive network can be mapped, such as the circumference, spatial structure, diameter, spatial density, spatial small world phenomenon, and global connectivity of the network. The results show that the coopetitive network possesses hub-and spoke spatial framework, in which the hub is localized far from the cluster of players. Moreover, the coopetitive interaction does not require face-to-face nexus, because the focal firm communicates with them via IT devices. The coopetitive activities contribute significantly to the urban economic growth. The main agent (the hub) ought to be supported by the regional development policy at the local and inter-urban geographical scale as well.

Definiertes Kantenrunden durch Strömungsschleifen*/Accurately defined edge rounding by abrasive flow machining

2016 ◽  
Vol 106 (06) ◽  
pp. 400-406
Author(s):  
E. Prof. Uhlmann ◽  
S. Roßkamp
Keyword(s):  
The Other ◽  
Machining Parameters ◽  
Abrasive Flow Machining ◽  
Other Hand ◽  
New Findings ◽  
The One

Die Feinbearbeitung von innenliegenden Werkstückkanten ist nur mit wenigen Fertigungsverfahren möglich. Nun liegen neue Erkenntnisse zu den Potentialen des Strömungsschleifens in dieser Bearbeitungsaufgabe vor. So zeigt dieser Fachbeitrag einerseits die Qualifizierung gerundeter Kanten hinsichtlich der beiden Größen Radius und Form, andererseits werden Ergebnisse aus technologischen Untersuchungen zum Einfluss der Bearbeitungsparameter auf die Kantenrundung vorgestellt. &nbsp; Only a few machining methods are suitable for finishing edges inside workpieces. Now there are new findings about the potentials of abrasive flow machining in this assignment. On the one hand the qualification of edges in regard to radius and shape will be outlined in this technical contribution. On the other hand the results of technological investigations about the influence of machining parameters on edge rounding will be presented.

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