scholarly journals A Case Report of Pseudoxanthoma Elasticum with Rare Sequence Variants in Genes Related to Inherited Retinal Diseases

Diagnostics ◽  
2021 ◽  
Vol 11 (10) ◽  
pp. 1800
Author(s):  
Francesco Demetrio Lofaro ◽  
Dario Pasquale Mucciolo ◽  
Vittoria Murro ◽  
Laura Pavese ◽  
Daniela Quaglino ◽  
...  
Keyword(s):  
Wide Spectrum ◽  
Pseudoxanthoma Elasticum ◽  
Elastic Fibers ◽  
Sequence Variants ◽  
Retinal Diseases ◽  
Patient Counseling ◽  
Ocular Manifestations ◽  
Whole Exome ◽  
Rare Autosomal Recessive Disease

A case of a patient with an early and severe visual impairment is described. Due to the occurrence of skin papules a suspect of pseudoxanthoma elasticum (PXE) was posed. PXE is a rare autosomal recessive disease clinically characterized by skin, cardiovascular and ocular manifestations, these last being those that most severely affect patients’ quality of life. A whole exome sequencing approach focusing on 340 genes related to the calcification process and/or to inherited retinal diseases (IRDs) was performed. Rare monoallelic sequence variants in ABCA4, ABCC6, IMPG1, POC1B and RAX2 were found. The presence of calcified elastic fibers was assessed by ultrastructural analysis on a skin biopsy. Diagnosis of PXE was based on clinical, biomolecular and morphological results, although the additional involvement of several IRD genes is important to explain the unexpectedly severe ophthalmological phenotype of the patient also in prognostic and therapeutic perspectives. Data indicate that genetic screening using a wide-spectrum analysis approach is essential to assist ophthalmologists in improving patient counseling.

scholarly journals From Clinical Diagnosis to the Discovery of Multigene Rare Sequence Variants in Pseudoxanthoma elasticum: A Case Report

2021 ◽  
Vol 8 ◽  
Author(s):  
Francesco Demetrio Lofaro ◽  
Dario Pasquale Mucciolo ◽  
Vittoria Murro ◽  
Laura Pavese ◽  
Daniela Quaglino ◽  
...  
Keyword(s):  
Rare Variants ◽  
Wide Spectrum ◽  
Personalised Medicine ◽  
Pseudoxanthoma Elasticum ◽  
Future Perspective ◽  
Sequence Variant ◽  
Sequence Variants ◽  
Generation Sequencing ◽  
Rare Autosomal Recessive Disease ◽  
Rare Sequence

Pseudoxanthoma elasticum (PXE) is a rare autosomal recessive disease clinically characterised by early cutaneous alterations, and by late clinically relevant ocular, and cardiovascular manifestations. ABCC6 genetic tests are used to confirm clinical PXE diagnosis, but this strategy may be rather challenging when only one ABCC6 pathogenic variant is found. A next-generation sequencing approach focusing on 362 genes related to the calcification process and/or to inherited retinal diseases was performed on a patient with clinical PXE diagnosis (skin papules and laxity, angioid streaks, and atrophy) who was carrier of only one ABCC6 rare sequence variant. Beside ABCC6, several rare sequence variants were detected which can contribute either to the occurrence of calcification (GGCX and SERPINF1 genes) and/or to ophthalmological manifestations (ABCA4, AGBL5, CLUAP1, and KCNV2 genes). This wide-spectrum analysis approach facilitates the identification of rare variants possibly involved in PXE, thus avoiding invasive skin biopsy as well as expensive and time-consuming diagnostic odyssey and allows to broaden and to deepen the knowledge on this complex rare disease and to improve patients' counselling, also with a future perspective of personalised medicine.

Model and Method for Contributor’s Quality Assessment in Community Image Tagging Systems

2018 ◽  
pp. 45-51
Author(s):  
A. V. Ponomarev
Keyword(s):  
Large Scale ◽  
Wide Spectrum ◽  
Preference Relation ◽  
Pairwise Comparison ◽  
Ground Truth ◽  
Comparison Method ◽  
Characteristic Matrix ◽  
Image Tagging ◽  
Proposed Model

Introduction: Large-scale human-computer systems involving people of various skills and motivation into the information processing process are currently used in a wide spectrum of applications. An acute problem in such systems is assessing the expected quality of each contributor; for example, in order to penalize incompetent or inaccurate ones and to promote diligent ones.Purpose: To develop a method of assessing the expected contributor’s quality in community tagging systems. This method should only use generally unreliable and incomplete information provided by contributors (with ground truth tags unknown).Results:A mathematical model is proposed for community image tagging (including the model of a contributor), along with a method of assessing the expected contributor’s quality. The method is based on comparing tag sets provided by different contributors for the same images, being a modification of pairwise comparison method with preference relation replaced by a special domination characteristic. Expected contributors’ quality is evaluated as a positive eigenvector of a pairwise domination characteristic matrix. Community tagging simulation has confirmed that the proposed method allows you to adequately estimate the expected quality of community tagging system contributors (provided that the contributors' behavior fits the proposed model).Practical relevance: The obtained results can be used in the development of systems based on coordinated efforts of community (primarily, community tagging systems). 

scholarly journals Facial cleft? The first case of manitoba‐oculo‐tricho‐anal syndrome with novel mutations in China: a case report

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Shuchen Gu ◽  
Yimin Khoong ◽  
Xin Huang ◽  
Tao Zan
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Clinical Manifestations ◽  
Sporadic Case ◽  
Facial Cleft ◽  
Ocular Manifestations ◽  
First Case ◽  
Whole Exome ◽  
Chinese Girl ◽  
Low Prevalence

Abstract Background Manitoba-oculo-tricho-anal (MOTA) syndrome is a rare syndrome with only 27 cases reported worldwide so far, but none was reported in the population of Eastern Asia. Such extremely low prevalence might be contributed by misdiagnosis due to its similarities in ocular manifestations with facial cleft. In our study, we discovered the first case of MOTA syndrome in the population of China, with 2 novel FRAS1 related extracellular matrix 1 (FREM1) gene stop-gain mutations confirmed by whole exome sequencing. Case presentation A 12-year-old Chinese girl presented with facial cleft-like deformities including aberrant hairline, blepharon-coloboma and broad bifid nose since birth. Whole exome sequencing resulted in the identification of 2 novel stop-gain mutations in the FREM1 gene. Diagnosis of MOTA syndrome was then established. Conclusions We discovered the first sporadic case of MOTA syndrome according to clinical manifestations and genetic etiology in the Chinese population. We have identified 2 novel stop-gain mutations in FREM1 gene which further expands the spectrum of mutational seen in the MOTA syndrome. Further research should be conducted for better understanding of its mechanism, establishment of an accurate diagnosis, and eventually the exploitation of a more effective and comprehensive therapeutic intervention for MOTA syndrome.

scholarly journals Long-term outcome and quality of life after CNS cavernoma resection: eloquent vs. non-eloquent areas

2021 ◽  
Author(s):  
Loay Shoubash ◽  
Jörg Baldauf ◽  
Marc Matthes ◽  
Michael Kirsch ◽  
Matthias Rath ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Short Form ◽  
Preoperative Evaluation ◽  
Patient Counseling ◽  
Surgical Morbidity ◽  
Term Outcome ◽  
Long Term Outcome

AbstractThe aim of this study is to analyze the long-term quality of life after surgery of cavernoma. A monocentric retrospective study was conducted on 69 patients with cavernoma treated microsurgically between 2000 and 2016. The eloquence was adopted from Spetzler-Martin definition. A most recent follow-up was elicited between 2017 and 2019, in which the quality of life (QoL) was evaluated with the Short Form-12 questionnaire (SF12). Forty-one lesions were in eloquent group (EG), 22 in non-eloquent group (NEG), 3 in orbit, and 3 in the spinal cord. Postoperative worsening of the modified Rankin scale (mRS) occurred in 19.5% of cases in EG versus 4.5% in NEG. After a mean follow-up of 6.5 years (SD 4.6), the neurological status was better or unchanged compared to baseline in 85.4% of EG and 100% of NEG. Regarding QoL assessment of 44 patients (EG n = 27, NEG n = 14) attended the last follow-up. Patients after eloquent cavernoma resection reported a non-inferior QoL in most SF12 domains (except for physical role) compared to NEG. However, they reported general health perception inferior to norms, which was affected by the limited physical and emotional roles. At a late follow-up, the surgical morbidity was transient in the NEG and mostly recovered in the EG. The QoL comparison between eloquent and non-eloquent cavernomas created interesting and new data after prolonged follow-up. These results add value for decision-making as well as patient counseling for future encountered cases. Preoperative evaluation of QoL is recommended for future studies to assess QoL dynamics.

scholarly journals Public Awareness and Disaster Risk Reduction: Just-in-Time Networks and Learning

2008 ◽  
Vol 23 (3) ◽  
pp. 286-288 ◽  
Author(s):  
Ali Ardalan ◽  
Faina Linkov ◽  
Eugene Shubnikov ◽  
Ronald E. LaPorte
Keyword(s):  
Hurricane Katrina ◽  
Wide Spectrum ◽  
Public Awareness ◽  
Just In Time ◽  
Educational Levels ◽  
Hazard And Risk ◽  
Time Required ◽  
Expert Network ◽  
Core Materials

AbstractImproving public awareness through education has been recognized widely as a basis for reducing the risk of disasters. Some of the first disaster just-in-time (JIT) education modules were built within 3–6 days after the south Asia tsunami, Hurricane Katrina, and the Bam, Pakistan, and Indonesia earthquakes through a Supercourse. Web monitoring showed that visitors represented a wide spectrum of disciplines and educational levels from 120 developed and developing countries. Building disaster networks using an educational strategy seizes the opportunity of increased public interest to teach and find national and global expertise in hazard and risk information. To be effective, an expert network and a template for the delivery of JIT education must be prepared before an event occurs, focusing on developing core materials that could be customized rapidly, and then be based on the information received from a recent disaster. The recyclable process of the materials would help to improve the quality of the teaching, and decrease the time required for preparation. The core materials can be prepared for disasters resulting from events such as earthquakes, hurricanes, tsunamis, floods, and bioterrorism.

scholarly journals A PROSPECTIVE STUDY ON IMPACT OF PATIENT COUNSELLING ON QUALITY OF LIFE AND MEDICATION ADHERENCE IN EPILEPTIC PATIENTS

2016 ◽  
Vol 10 (1) ◽  
pp. 67
Author(s):  
Sathesh Kumar Sukumaran ◽  
Ayswarya P
Keyword(s):  
Quality Of Life ◽  
Medication Adherence ◽  
Patient Counseling ◽  
Chi Square ◽  
Patient Counselling ◽  
T Score ◽  
Epileptic Patients ◽  
A Prospective Study ◽  
The Impact

ABSTRACTObjective: To study the impact of patient counseling on medication adherence and quality of life (QOL) in epileptic patients and to assess the factorsaffecting medication adherence.Methods: This study is a prospective observational study involving 100 patients with an age limit of 8-60 years and those taking Antiepilepticdrugs for at least 3 months. The study population received patient counseling during their first visit. The impact of patient counseling on QOL andmedication adherence was assessed using self-reported questionnaire QOLIE-31 and MMAS-8 between the first visit and the second visit. Statisticalanalysis (Paired t-test and Paired Chi-square test) was performed to analyze the impact of patient counseling on QOL and medication adherence inepileptic patients.Results: A total of 100 patients were included in the study. After providing patient counseling, it was observed that there was a statistically significant(p<0.05) improvement in all domains of QOLIE-31 and MMAS-8 scores. Before counseling, mean overall T-score of QOLIE-31 was 44.08±2.07whichwas changed to 49.14±1.27 after patient counseling with a mean change of 5.06 in overall T-score. In the case of medication adherence, beforecounseling 77% subjects were nonadherent to therapy, after counseling it was reduced to 41%. The common reasons for medication adherence wereforgetfulness, unawareness, therapy related, and economics related. Out of which forgetfulness along with unawareness was the major one.Conclusion: The study described that patient counseling plays a major role in improving QOL and medication adherence.Keywords: QOLIE-31, MMAS-8, Epilepsy, Antiepileptic drugs, Patient counseling.

scholarly journals Whole-exome imputation of sequence variants identified two novel alleles associated with adult body height in African Americans

2014 ◽  
Vol 23 (24) ◽  
pp. 6607-6615 ◽  
Author(s):  
Mengmeng Du ◽  
Paul L. Auer ◽  
Shuo Jiao ◽  
Jeffrey Haessler ◽  
David Altshuler ◽  
...  
Keyword(s):  
African Americans ◽  
Body Height ◽  
Sequence Variants ◽  
Whole Exome ◽  
Adult Body ◽  
Novel Alleles

scholarly journals System Analysis of the Sequencing Quality of Human Whole Exome Samples on Bgi Ngs Platform

2021 ◽  
Author(s):  
Vera Belova ◽  
Anna Pavlova ◽  
Robert Afasizhev ◽  
Viktoria Moskalenko ◽  
Margarita Korzhanova ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
System Analysis ◽  
Regions Of Interest ◽  
Qualitative And Quantitative ◽  
Whole Exome ◽  
Pcr Duplicates ◽  
Sequencing Quality ◽  
Chinese Company ◽  
Chinese Manufacturer

AbstractHuman whole exome sequencing (WES) is now the standard for most medical genetics applications worldwide. The leaders are manufacturers of enrichment kits that base their protocols on a hybridization approach using cRNA or cDNA biotinylated samples specific to regions of interest in the genome. Recently, platforms from the Chinese company MGI Tech have been successfully promoted in the markets of many countries in Europe and Asia. There is no longer any question about their reliability and the quality of the data obtained. However, very few task-specific kits for WES, in particular, are presented for these sequencers. We have developed our solution for library pre-capture pooling and exome enrichment using Agilent probes. In this work, we demonstrate on a set of standard benchmark samples from the Platinum Genome Collection that our protocol, called “RSMU_exome”, is superior to the kit from MGI Tech in qualitative and quantitative terms. It allows detecting more SNVs and CNVs with superior sensitivity and specificity values, generates fewer PCR duplicates, allows more samples to be pooled in a single enrichment, and requires less raw data to produce results comparable to the MGI Tech solution. Also, our protocol is significantly cheaper than the kit from the Chinese manufacturer.

scholarly journals Primary and Secondary Cone Cell Death Mechanisms in Inherited Retinal Diseases and Potential Treatment Options

2022 ◽  
Vol 23 (2) ◽  
pp. 726
Author(s):  
Alicia A. Brunet ◽  
Alan R. Harvey ◽  
Livia S. Carvalho
Keyword(s):  
Quality Of Life ◽  
Cell Death ◽  
Effective Treatment ◽  
Treatment Options ◽  
Retinal Diseases ◽  
Potential Treatment ◽  
Cone Cell ◽  
Similarities And Differences ◽  
Cell Death Mechanisms

Inherited retinal diseases (IRDs) are a leading cause of blindness. To date, 260 disease-causing genes have been identified, but there is currently a lack of available and effective treatment options. Cone photoreceptors are responsible for daylight vision but are highly susceptible to disease progression, the loss of cone-mediated vision having the highest impact on the quality of life of IRD patients. Cone degeneration can occur either directly via mutations in cone-specific genes (primary cone death), or indirectly via the primary degeneration of rods followed by subsequent degeneration of cones (secondary cone death). How cones degenerate as a result of pathological mutations remains unclear, hindering the development of effective therapies for IRDs. This review aims to highlight similarities and differences between primary and secondary cone cell death in inherited retinal diseases in order to better define cone death mechanisms and further identify potential treatment options.

scholarly journals Sirtuin 3 (SIRT3) Pathways in Age-Related Cardiovascular and Neurodegenerative Diseases

Biomedicines ◽  
2021 ◽  
Vol 9 (11) ◽  
pp. 1574
Author(s):  
Ciprian N. Silaghi ◽  
Marius Farcaș ◽  
Alexandra M. Crăciun
Keyword(s):  
Neurodegenerative Diseases ◽  
Wide Spectrum ◽  
Metabolic Adaptation ◽  
High Morbidity ◽  
Protective Effects ◽  
Sirtuin 3 ◽  
Age Related ◽  
Genetic Interventions ◽  
Induced Changes

Age-associated cardiovascular and neurodegenerative diseases lead to high morbidity and mortality around the world. Sirtuins are vital enzymes for metabolic adaptation and provide protective effects against a wide spectrum of pathologies. Among sirtuins, mitochondrial sirtuin 3 (SIRT3) is an essential player in preserving the habitual metabolic profile. SIRT3 activity declines as a result of aging-induced changes in cellular metabolism, leading to increased susceptibility to endothelial dysfunction, hypertension, heart failure and neurodegenerative diseases. Stimulating SIRT3 activity via lifestyle, pharmacological or genetic interventions could protect against a plethora of pathologies and could improve health and lifespan. Thus, understanding how SIRT3 operates and how its protective effects could be amplified, will aid in treating age-associated diseases and ultimately, in enhancing the quality of life in elders.

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