scholarly journals Ichthyosis in Dogs—Congenital Dermatologic Disorder

2021 ◽  
Vol 65 (3) ◽  
pp. 22-29
Author(s):  
Z. Malinovská ◽  
E. Čonková
Keyword(s):  
Immune Responses ◽  
Stratum Corneum ◽  
Genetic Variants ◽  
Autosomal Recessive ◽  
Protective Layer ◽  
Internal Stability ◽  
Entire Body ◽  
Epidermolytic Ichthyosis ◽  
The Individual ◽  
Sensory Functions

Abstract The skin provides protective functions, such as thermoregulation, resorption, provision of immune responses, storage and sensory functions, which all play an important role in the internal stability of the organism. The skin has 3 major layers: the epidermis, the dermis and subcutis. The outermost protective layer of the epidermis, the stratum corneum, consists of 20 to 30 overlapping layers of anucleate cells, the corneocytes. Ichthyosis is an autosomal recessive congenital skin disease, in which the corneocytes form defects that appear like individual steps of the stratum corneum. Ichthyosis is characterized by excessive scaling over the entire body surface and is not curable; the symptoms can only be alleviated. Several genetic variants have been identified in specific dog breeds: PNPLA1 in the Golden Retrievers, SLC27A4 in the Great Danes, NIPAL4 in the American Bulldogs, TGM1 in the Jack Russel Terriers, ASPRV1 in the German Shepherds, which cause different forms of nonepidermolytic ichthyosis and KRT10 in the Norfolk Terriers, which causes epidermolytic ichthyosis. When classifying breeds of dogs predisposed to ichthyosis, it is necessary to determine the presence of defective genes in the genome of the individual animals involved in mating.

Membrane Structural Abnormalities in the Stratum Corneum of the Autosomal Recessive Ichthyoses

1992 ◽  
Vol 99 (6) ◽  
pp. 755-763 ◽  
Author(s):  
Ruby Ghadially ◽  
Mary L Williams ◽  
Sui Yuen E Hou ◽  
Peter M Elias
Keyword(s):  
Stratum Corneum ◽  
Autosomal Recessive ◽  
Structural Abnormalities

scholarly journals The tolerogenic interplay(s) among HLA-G, myeloid APCs, and regulatory cells

Blood ◽  
2011 ◽  
Vol 118 (25) ◽  
pp. 6499-6505 ◽  
Author(s):  
Edgardo D. Carosella ◽  
Silvia Gregori ◽  
Joel LeMaoult
Keyword(s):  
T Cells ◽  
Regulatory T Cells ◽  
Immune Responses ◽  
Recent Work ◽  
Large Body ◽  
Regulatory Cells ◽  
Individual Effects ◽  
The Individual ◽  
Key Aspects ◽  
Antigen Presenting

Abstract Myeloid antigen-presenting cells (APCs), regulatory cells, and the HLA-G molecule are involved in modulating immune responses and promoting tolerance. APCs are known to induce regulatory cells and to express HLA-G as well as 2 of its receptors; regulatory T cells can express and act through HLA-G; and HLA-G has been directly involved in the generation of regulatory cells. Thus, interplay(s) among HLA-G, APCs, and regulatory cells can be easily envisaged. However, despite a large body of evidence on the tolerogenic properties of HLA-G, APCs, and regulatory cells, little is known on how these tolerogenic players cooperate. In this review, we first focus on key aspects of the individual relationships between HLA-G, myeloid APCs, and regulatory cells. In its second part, we highlight recent work that gathers individual effects and demonstrates how intertwined the HLA-G/myeloid APCs/regulatory cell relationship is.

scholarly journals Genetic polymorphisms mediating behavioural and immune response to pathogens may moderate the impact of the COVID-19 pandemic: a pilot study

2020 ◽  
Author(s):  
Ravi Philip Rajkumar
Keyword(s):  
Immune Response ◽  
Pilot Study ◽  
Immune Responses ◽  
Genetic Variants ◽  
Mortality Rates ◽  
Therapeutic Strategies ◽  
Published Data ◽  
Entire World ◽  
S Allele ◽  
The Impact

AbstractBackgroundThe COVID-19 pandemic has affected the entire world, but there are wide variations in prevalence and mortality across nations. Genetic variants which influence behavioural or immune responses to pathogens, selected for by pathogen pressure, may influence this variability. Two relevant polymorphisms in this context are the s allele of the serotonin transporter promoter (5-HTTLPR) and the G allele of the interleukin-6 gene (IL-6 rs1800795).MethodsThe frequencies of the 5-HTTLPR s allele and IL-6 rs1800795 G allele were obtained from published data. The correlations between these allele frequencies and the prevalence and mortality rates of COVID-19 were examined across 44 nations.ResultsThe IL-6 rs1800795 G allele was negatively correlated with COVID-19 prevalence (ρ = −0.466, p < 0.01) and mortality (ρ = −0.591, p<0.001) across nations. The 5-HTTLPR s allele was negatively correlated with COVID-19 mortality rates (ρ = −0.437, p = 0.023).ConclusionsThese results suggest that a significant relationship exists between genetic variants that influence behavioural and immune responses to pathogens and indices of the impact of COVID-19 across nations. Further investigation of these variants and their correlates may permit the development of better preventive or therapeutic strategies in the management of the COVID-19 pandemic.

scholarly journals BIPLANAR IMAGING WITH TRIDIMENSIONAL CAPABILITIES: APPLICABILITY OF THIS NEW EXAMINATION TO SPINAL DEFORMITIES

2020 ◽  
Vol 19 (1) ◽  
pp. 67-70
Author(s):  
RAPHAEL DE REZENDE PRATALI ◽  
MURILO TAVARES DAHER ◽  
ROBERT MEVES
Keyword(s):  
Spinal Deformity ◽  
Imaging System ◽  
Adult Spinal Deformity ◽  
Three Dimensional ◽  
Entire Body ◽  
Spinal Deformities ◽  
Compensatory Mechanisms ◽  
Level Of Evidence ◽  
The Individual ◽  
Bone Structures

ABSTRACT This study presents details about the applicability of the new image acquisition system, called the biplanar imaging system, with three-dimensional capabilities (EOS®) to the treatment of spinal deformities. This system allows radiographic acquisition of the entire body, with a great reduction in the dose of radiation absorbed by the patient and three-dimensional (3D) stereoradiographic image reconstruction of bone structures, including the spine. In the case of adolescent idiopathic scoliosis, the analysis of the spinal deformity with 3D reconstruction allows better understanding of the deformity and surgical planning. In the case of adult spinal deformity, full-body analysis allows an evaluation of the spinopelvic deformity, including loss of sagittal alignment, in addition to an evaluation of compensatory mechanisms recruited by the individual in an attempt to maintain the sagittal balance. Level of evidence III; Descriptive Review.

scholarly journals VariantKey: A Reversible Numerical Representation of Human Genetic Variants

2018 ◽  
Author(s):  
Nicola Asuni ◽  
Steven Wilder
Keyword(s):  
Open Source Software ◽  
Genetic Variants ◽  
Data Representation ◽  
Lookup Table ◽  
Memory Allocation ◽  
Computer Memory ◽  
Numerical Representation ◽  
Chromosome Position ◽  
The Individual ◽  
Genomic Regions

AbstractHuman genetic variants are usually represented by four values with variable length: chromosome, position, reference and alternate alleles. There is no guarantee that these components are represented in a consistent way across different data sources, and processing variant-based data can be inefficient because four different comparison operations are needed for each variant, three of which are string comparisons. Existing variant identifiers do not typically represent every possible variant we may be interested in, nor they are directly reversible. Similarly, genomic regions are typically represented inconsistently by three or four values. Working with strings, in contrast to numbers, poses extra challenges on computer memory allocation and data-representation. To overcome these limitations, a novel reversible numerical encoding schema for human genetic variants (VariantKey) and genomics regions (RegionKey), is presented here alongside a multi-language open-source software implementation (https://github.com/Genomicsplc/variantkey). VariantKey and RegionKey represents variants and regions as single 64 bit numeric entities, while preserving the ability to be searched and sorted by chromosome and position. The individual components of short variants can be directly read back from the VariantKey, while long variants are supported with a fast lookup table.

scholarly journals Immune Homeostasis: New Role of Micro- and Macroelements, Healthy Microbiota

2020 ◽  
Vol 6 (10) ◽  
pp. 206-233
Author(s):  
S. Bulgakova ◽  
N. Romanchuk
Keyword(s):  
Immune System ◽  
Gut Microbiota ◽  
Immune Responses ◽  
Immunological Tolerance ◽  
Immune Homeostasis ◽  
Individual Response ◽  
Protective Mechanisms ◽  
Medical Program ◽  
Genetic And Environmental Factors ◽  
The Individual

The availability of innovative technologies, such as next-generation sequencing and correlated bioinformatics tools, allows deeper investigation of the cross-network relationships between the microbiota and human immune responses. Immune homeostasis is the balance between immunological tolerance and inflammatory immune responses — a key feature in the outcome of health or disease. A healthy microbiota is the qualitative and quantitative ratio of diverse microbes of individual organs and systems, maintaining the biochemical, metabolic and immune equilibrium of the macroorganism necessary to preserve human health. The studies of P. I. Romanchuk found that the microbiota is a key element potentially capable of influencing antigen functions to induce a protective immune response and the ability of the immune system to adequately respond to antigenic stimulation (vaccine efficacy) by acting as an immunological modulator as well as a natural vaccine adjuvant. The mechanisms underlying the crosstalk between the gut microbiota and the immune system play a crucial role, especially at an early age (early gut microbiota forms immunological functions). New interactions, along with other genetic and environmental factors, lead to a certain composition and richness of the microbiota, which can diversify the individual response to vaccinations. Variations in microbial communities may explain the geographical effectiveness of vaccination. Modern technologies for quantifying the specific and functional characteristics of the microbiota of the gastrointestinal tract, along with fundamental and new concepts in the field of immunology, have revealed numerous ways in which the interaction of the host and microbiota proceeds favorably, neutrally or unfavorably. The gut microbiota has a strong influence on the shape and quality of the immune system, respectively, the immune system determines the composition and localization of the microbiota. Thus, a healthy microbiota directly modulates intestinal and systemic immune homeostasis. The new managed healthy biomicrobiota and personalized functional and balanced nutrition of the “brain and microbiota” is a patient's long-term medical program that allows the combined use of nutritional epigenetics and pharmacepigenetics, and most importantly, an increase in the protective mechanisms of immunity.

scholarly journals The Epidemiology, Genetics and Future Management of Syndactyly

2012 ◽  
Vol 6 (1) ◽  
pp. 14-27 ◽  
Author(s):  
D Jordan ◽  
S Hindocha ◽  
M Dhital ◽  
M Saleh ◽  
W Khan
Keyword(s):  
Autosomal Recessive ◽  
Autosomal Dominant Trait ◽  
Shh Pathway ◽  
New Genes ◽  
Wide Range ◽  
Zone Of Polarizing Activity ◽  
The Individual ◽  
Hand Defect ◽  
Original Classification ◽  
Future Management

Syndactyly is a condition well documented in current literature due to it being the most common congenital hand defect, with a large aesthetic and functional significance. There are currently nine types of phenotypically diverse non-syndromic syndactyly, an increase since the original classification by Temtamy and McKusick(1978). Non-syndromic syndactyly is inherited as an autosomal dominant trait, although the more severe presenting types and sub types appear to have autosomal recessive and in some cases X-linked hereditary. Gene research has found that these phenotypes appear to not only be one gene specific, although having individual localised loci, but dependant on a wide range of genes and subsequent signalling pathways involved in limb formation. The principal genes so far defined to be involved in congenital syndactyly concern mainly the Zone of Polarizing Activity and Shh pathway. Research into the individual phenotypes appears to complicate classification as new genes are found both linked, and not linked, to each malformation. Consequently anatomical, phenotypical and genotypical classifications can be used, but are variable in significance, depending on the audience. Currently, management is surgical, with a technique unchanged for several decades, although future development will hopefully bring alternatives in both earlier diagnosis and gene manipulation for therapy.

Autosomal recessive polycystic kidney disease

2015 ◽  
Author(s):  
Carsten Bergmann ◽  
Klaus Zerres
Keyword(s):  
Kidney Disease ◽  
Polycystic Kidney Disease ◽  
Autosomal Recessive ◽  
Primary Cilia ◽  
Transmembrane Protein ◽  
Phenotypic Variability ◽  
Amino Acid Type ◽  
Polycystic Kidney ◽  
Exact Function ◽  
The Individual

Autosomal recessive polycystic kidney disease (ARPKD) is an important cause of childhood renal- and liver-related morbidity and mortality with variable disease expression. Many patients manifest peri- or neonatally with a mortality rate of 30–50%, whereas others survive to adulthood with only minor clinical features. ARPKD is typically caused by mutations in the PKHD1 gene that encodes a 4074-amino acid type 1 single-pass transmembrane protein called fibrocystin or polyductin. Fibrocystin/polyductin is among other cystoproteins expressed in primary cilia, basal bodies, and centrosomes, but its exact function has still not been fully unravelled. Mutations were found to be scattered throughout the gene with many of them being private to single families. Correlations have been drawn for the type of mutation rather than for the site of the individual mutation. Virtually all patients carrying two truncating mutations display a severe phenotype with peri- or neonatal demise while surviving patients bear at least one hypomorphic missense mutation. However, about 20–30% of all sibships exhibit major intrafamilial phenotypic variability and it becomes increasingly obvious that ARPKD is clinically and genetically much more heterogeneous and complex than previously thought.

scholarly journals The effects of host heterogeneity on pathogen population structure

1999 ◽  
Vol 354 (1384) ◽  
pp. 711-719 ◽  
Author(s):  
Sunetra Gupta ◽  
Alison Galvani
Keyword(s):  
Immune Responses ◽  
High Frequency ◽  
Host Population ◽  
Immune Selection ◽  
Pathogen Population ◽  
Host Immune Responses ◽  
Wide Range ◽  
Specific Manner ◽  
Variable Antigen ◽  
The Individual

We have shown that among pathogens, populations may self–organize into strains with non–overlapping repertoires of antigenic variants as a consequence of strong immune selection operating on polymorphic antigens. Recently, we have also demonstrated that over a wide range of intermediate levels of immune selection, pathogens may still be structured into discrete strains, but different sets of non–overlapping pathogen types will replace each other in a cyclical or chaotic manner. These models assume that the ranking of antigens in terms of the strength of the induced immune response is the same for every host. However, host immune responses may be restricted by the genotype of the individual. To explore this issue, a mathematical model was constructed under the assumption that a proportion of the host population responds principally to a variable antigen while the remainder of the population responds principally to a conserved antigen. The results of this analysis indicate that discrete strain structure (DSS) will be maintained even with a high frequency of hosts that do not respond in a variant–specific manner. Furthermore, the range of the immune selection pressure over which DSS prevails is increased (and the region of cyclical or chaotic behaviour reduced) by the inclusion of hosts that respond in a cross–reactive rather than a variant–specific manner.

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