Role of an ABCB11930_1931del TC gene mutation in a temporal cluster of macrocyclic lactone–induced neurologic toxicosis in cats associated with products labeled for companion animal use

2021 ◽  
Vol 259 (1) ◽  
pp. 72-76
Author(s):  
Katrina L. Mealey ◽  
Neal S. Burke ◽  
Rebecca L. Connors
Keyword(s):  
Gene Mutation ◽  
Macrocyclic Lactone ◽  
Companion Animal ◽  
Temporal Cluster ◽  
Animal Use

scholarly journals The Emerging Terbinafine-Resistant Trichophyton Epidemic: What Is the Role of Antifungal Susceptibility Testing?

Dermatology ◽  
2021 ◽  
pp. 1-20
Author(s):  
Julia J. Shen ◽  
Maiken C. Arendrup ◽  
Shyam Verma ◽  
Ditte Marie L. Saunte
Keyword(s):  
Gene Mutation ◽  
Susceptibility Testing ◽  
Geometric Mean ◽  
Antifungal Susceptibility ◽  
Antifungal Susceptibility Testing ◽  
Squalene Epoxidase ◽  
Exclusion Criteria ◽  
Huge Variation

<b><i>Background:</i></b> Dermatophytosis is commonly encountered in the dermatological clinics. The main aetiological agents in dermatophytosis of skin and nails in humans are <i>Trichophyton</i> (<i>T</i>.) <i>rubrum</i>, <i>T. mentagrophytes</i> and <i>T. interdigitale</i> (former <i>T. mentagrophytes-</i>complex). Terbinafine therapy is usually effective in eradicating infections due to these species by inhibiting their squalene epoxidase (SQLE) enzyme, but increasing numbers of clinically resistant cases and mutations in the SQLE gene have been documented recently. Resistance to antimycotics is phenotypically determined by antifungal susceptibility testing (AFST). However, AFST is not routinely performed for dermatophytes and no breakpoints classifying isolates as susceptible or resistant are available, making it difficult to interpret the clinical impact of a minimal inhibitory concentration (MIC). <b><i>Summary:</i></b> PubMed was systematically searched for terbinafine susceptibility testing of dermatophytes on October 20, 2020, by two individual researchers. The inclusion criteria were <i>in vitro</i> terbinafine susceptibility testing of <i>Trichophyton (T.) rubrum</i>, <i>T. mentagrophytes</i> and <i>T. interdigitale</i> with the broth microdilution technique. The exclusion criteria were non-English written papers. Outcomes were reported as MIC range, geometric mean, modal MIC and MIC<sub>50</sub> and MIC<sub>90</sub> in which 50 or 90% of isolates were inhibited, respectively. The reported MICs ranged from &#x3c;0.001 to &#x3e;64 mg/L. The huge variation in MIC is partly explained by the heterogeneity of the <i>Trichophyton</i> isolates, where some originated from routine specimens (wild types) whereas others came from non-responding patients with a known SQLE gene mutation. Another reason for the great variation in MIC is the use of different AFST methods where MIC values are not directly comparable. High MICs were reported particularly in isolates with SQLE gene mutation. The following SQLE alterations were reported: F397L, L393F, L393S, H440Y, F393I, F393V, F415I, F415S, F415V, S443P, A448T, L335F/A448T, S395P/A448T, L393S/A448T, Q408L/A448T, F397L/A448T, I121M/V237I and H440Y/F484Y in terbinafine-resistant isolates.

Wildlife management and the debate on the ethics of animal use. II. A challenge for the animal protection movement.

2012 ◽  
Vol 18 (2) ◽  
pp. 81 ◽  
Author(s):  
Daniel Lunney
Keyword(s):  
Wildlife Management ◽  
Critical Role ◽  
Animal Liberation ◽  
Ethical Imperative ◽  
Animal Protection ◽  
Wide Range ◽  
Animal Use

How people coexist and interact with animals has become an intensely debated issue in recent times, particularly with the rise of the animal protection movement following the publication of Peter Singer’s book Animal Liberation in 1975. This paper discusses some shortcomings of the philosophical positions taken in this complex debate. Singer has helped put animals on a new footing as a group that cannot morally be ignored, but his focus is mainly on individual, familiar animals that are used or abused by humans. The argument of this paper is that the ethics of managing wildlife hinges on a broader view of animals, and their contexts, than is apparent from Singer’s text. Wildlife managers aim to conserve populations of a wide range of species, and their habitats, but some mechanisms for achieving these aims, such as research and the control of invasive animals, are frequently opposed by elements of the animal protection movement. We need to adapt our attitude to animals, particularly wildlife, away from the traditional legacy of a few familiar species to embrace an ethic that is more ecological and relevant to Australian contexts. The case argued here has been to see the critical role of context — geographical, ecological, historical, relational — as a basis for a degree of reconciliation between conservation-oriented wildlife managers and the rising interest in the ethics of animal use. There is much to be gained for zoologists, wildlife managers and conservation biologists by framing key elements of their case in ethical arguments. Conversely, the challenge for those in the animal protection movement is to expand their philosophical ideas to include the ethical imperative of the conservation of populations of wildlife.

scholarly journals A Novel SRY Pathogenic Variant from a 46,XY Female Harboring a Nonsense Point Mutation (G to A) in Position 293

2021 ◽  
Author(s):  
Shengfang Qin ◽  
Xueyan Wang ◽  
Yunxing Li
Keyword(s):  
Point Mutation ◽  
Gene Mutation ◽  
Molecular Diagnosis ◽  
Novel Mutation ◽  
Pathogenic Variant ◽  
Sry Gene ◽  
Pathogenic Role ◽  
Common Cause ◽  
Xy Female

SRY gene mutation is a common cause of 46,XY female. We report a 46,XY female with a novel mutation of SRY c.293G>A (p.Trp98ter). Our report provides evidence for a pathogenic role of the SRY gene c.293G>A mutation in an individual and enlarges the spectrum of molecular diagnosis for these patients.

Association of hereditary thrombocythemia and distal limb defects with a thrombopoietin gene mutation

Blood ◽  
2009 ◽  
Vol 114 (8) ◽  
pp. 1655-1657 ◽  
Author(s):  
Claudio Graziano ◽  
Simona Carone ◽  
Emanuele Panza ◽  
Flora Marino ◽  
Pamela Magini ◽  
...  
Keyword(s):  
Human Development ◽  
Gene Mutation ◽  
Autosomal Dominant ◽  
Specific Gene ◽  
Autosomal Dominant Disorder ◽  
Distal Limb ◽  
Limb Defects ◽  
First Report

Abstract Hereditary thrombocythemia is a rare autosomal dominant disorder caused by mutations in either the thrombopoietin gene (TPO) or its receptor c-MPL. TPO mutations described so far lead to thrombopoietin overproduction through increased translation of m-RNA. Unilateral transverse reduction limb defects are usually sporadic and generally thought to be caused by vascular disruptions. Reports of inherited unilateral limb defects are extremely rare. In the present study, we describe a family with segregation of G185T TPO mutation in the 5′ UTR region in 4 subjects with thrombocythemia. Three of these patients also present congenital transverse limb defects. Association of these events gives a strong hint of the in vivo involvement of thrombopoietin in vasculogenesis, confirming the role of TPO in human development of the hemangioblast, the embryonic progenitor of the hematopoietic and endothelial lineages. This is the first report showing that vascular disruptions could be secondary to specific gene derangements.

scholarly journals Canine multi-drug resistance-1 mutation prevalence: A South African perspective

2014 ◽  
Vol 85 (1) ◽  
Author(s):  
Lérica Le Roux-Pullen ◽  
Henriëtte Van der Zwan
Keyword(s):  
Drug Resistance ◽  
South African ◽  
Gene Mutation ◽  
Macrocyclic Lactone ◽  
Multi Drug Resistance ◽  
Prevalence Data ◽  
Geographical Regions ◽  
African Perspective ◽  
Mdr 1

The multi-drug resistance (mdr-1) gene mutation is a phenomenon well known to current veterinary practitioners. The mutation causes a predisposition for, amongst other phenomena, macrocyclic lactone-induced neurotoxicosis in affected canines, a condition that can be fatal. Various herding dog breeds can be heterozygous or homozygous for the mutation, and prevalence differs only slightly in dog populations between geographical regions. This report provides prevalence data of the canine mdr-1 mutation in 306 South African dogs.

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