Targeted NGS Platforms for Genetic Screening and Gene Discovery in Primary Immunodeficiencies

Conclusions: NGS technology represents a powerful approach in the complex field of rare disorders but its different application should be weighted. A relatively small NGS target panel can be successfully applied for a robust diagnostic suspicion, while when the spectrum of clinical phenotypes overlaps more than one PID an in-depth NGS analysis is required, including also whole exome/genome sequencing to identify the causative gene. Introduction Primary immunodeficiencies (PIDs) are a phenotypically and genetically heterogeneous group of more than 300 monogenic inherited disorders resulting in immune defects that predispose patients to infections, autoimmune disorders, lymphoproliferative disease, and malignancies (1–3). PIDs with a more severe phenotype lead to life-threatening infections and life-limiting complications that require a prompt and accurate diagnosis in order to initiate lifesaving therapy (4, 5). Phenotypic and genotypic heterogeneity of PIDs make genetic diagnosis often complex and delayed. Indeed, more than one genotype might cause similar clinical phenotypes, but identical genotypes will not often produce the same phenotype and finally clinical penetrance may be different (6–9). The characterization of PID-associated genes is expected to significantly contribute to define the molecular events governing immune system development and will provide new insights into the pathogenesis of PIDs. Molecular genetic testing is also a useful tool for t...
Source: Frontiers in Immunology - Category: Allergy & Immunology Source Type: research

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Short-eared Owl at Burwell Fen, photographed mid-January One evening in late November, I was once again, hoping to catch sight of the Starling murmurations that occur over the Broad Lane balancing pond. As mentioned in a previous, issue the local Starlings and their continental counterparts will often roost in the reed bed there, last winter there were literally thousands. At the time of writing, just a few hundred are roosting, but that can change on a wind as arrivals from Europe turn up when the weather changes. Anyway, reader Alison waved as she passed the pond on her dog walk. I later heard that she’d seen a scu...
Source: David Bradley Sciencebase - Songs, Snaps, Science - Category: Science Authors: Tags: Birds Source Type: blogs
Authors: Kocalevent RD, Pinnschmidt H, Nehls S, Boczor S, Siegert S, Scherer M, Bussche HVD Abstract Several studies have demonstrated high work related stress and burnout symptoms in physicians. The study examined the longitudinal relationships of burnout and gratification crisis during 6 years of postgraduate medical education, controlled for gender and parental status. Data acquisition was carried out within the KarMed-study. Administered were the Maslach Burnout Inventory (MBI-HSS (MP)) (MBI) and the Effort-Reward-Imbalance (ERI). The analyses focused on general linear models and general linear mixed models wit...
Source: PPmP Psychotherapie Psychosomatik Medizinische Psychologie - Category: Psychiatry & Psychology Tags: Psychother Psychosom Med Psychol Source Type: research
CONCLUSION: The subjects of medical psychology and medical sociology have developed very heterogeneously in terms of independence, size, equipment and possibilities at the various faculties in Germany. Therefore, it is very important in the future that the 2 disciplines intensify the dialogue with each other and also with other psychosocial disciplines in order to influence the current development regarding NKLM and Master Plan 2020 constructively. On the one hand, this calls for an expansion of disadvantaged institutions and a consolidation of the existing autonomous institutions. PMID: 31952094 [PubMed - as supplied by publisher]
Source: PPmP Psychotherapie Psychosomatik Medizinische Psychologie - Category: Psychiatry & Psychology Tags: Psychother Psychosom Med Psychol Source Type: research
Hey guys, had a patient with sulfa/sulfonamides allergy who I dispensed Meloxicam. Pt states that sulfa is in meloxicam structure so she is having anaphylactic reaction due to taking Meloxicam 8 hours earlier I checked Lexicom/Clinical pharmacology, and I just cant find it being as contraindication... Of course, pt is threatening to go to a hospital/sue/etc... Am I overlooking it as a contraindication? Can you guys double check me?
Source: Student Doctor Network - Category: Universities & Medical Training Authors: Tags: Pharmacy Source Type: forums
Conclusions: Salvage chemotherapy (often with rituximab and radiotherapy), followed by HDT and stem cell transplantation, appears to be the standard real-world treatment for rrPMBCL. However, large prospective and retrospective studies are warranted to improve our knowledge of real-world treatment patterns. PMID: 31951774 [PubMed - as supplied by publisher]
Source: Expert Review of Hematology - Category: Hematology Tags: Expert Rev Hematol Source Type: research
Conclusion: DCP ischemia may improve after aflibercept treatment. Central macular vessel density was found to decrease post-treatment, but the clinical relevance needs further investigation. PMID: 31951761 [PubMed - as supplied by publisher]
Source: Ocular Immunology and Inflammation - Category: Allergy & Immunology Tags: Ocul Immunol Inflamm Source Type: research
Authors: Annibale B, Esposito G, Lahner E Abstract SUMMARYIntroduction: Atrophic gastritis (AG) is a complex syndrome which arise as consequence of H. pylori infection or in the context of gastric autoimmunity. It often deserves a benign course, but may lead to potentially life-threatening complications: cancer and anaemia. This review aims to address traditional and innovative knowledge on this often under-diagnosed disorder.Areas covered: This review covers clinical presentation, risk factors, diagnosis and management of AG and provides an updated resource for clinicians to get insight in this challenging disorde...
Source: Expert Review of Gastroenterology and Hepatology - Category: Gastroenterology Tags: Expert Rev Gastroenterol Hepatol Source Type: research
Species around the world are being forced to alter their diet, migratory patterns, feeding grounds and moreLast week it was reported that rising ocean temperatures and changing sea currents arecausing leatherback turtles ’ journeys from nesting to feeding grounds to double in length. After laying their eggs on some beaches, the turtles must move to cooler waters to feed, but higher temperatures mean some are having to swim further to reach suitable areas, according to France ’s Hubert Curien Institute.Continue reading...
Source: Guardian Unlimited Science - Category: Science Authors: Tags: Animal behaviour Climate change Biology Science Environment Technology Source Type: news
Abstract An iron-nickel bimetallic metal-organic framework (FeNi-MOF) with inner peroxidase-like activity as a support for enzyme immobilization was synthesized for the first time. And the GOx-mediated synthesis of mimic multienzyme system (GOx/FeNi-MOF) was obtained by a one-step biomimetic mineralization. FeNi-MOF played a dual role of a peroxidase mimic and a protective coating. Therefore, the obtained multienzyme system showed both peroxidase-like activity of FeNi-MOF and the biological activity of natural enzyme. FeNi-MOF acted as a peroxidase mimic, showing a higher affinity for hydrogen peroxide (H2O2). The...
Source: Analytica Chimica Acta - Category: Chemistry Authors: Tags: Anal Chim Acta Source Type: research
Abstract In this work, a selective silica-based molecular imprinted solid-phase microextraction (SPME) sorbent was prepared through the sol-gel process. Difenoconazole was used as a template to prepare imprinted materials on the surface of mesoporous silica. The SPME fiber followed by gas chromatography-electron capture detection was applied for the extraction and determination of difenoconazole. Fourier transform infrared spectrometry, field emission scanning electron microscopy, X-ray diffraction, and thermal gravimetry were used to characterize the imprinted SPME fiber. Two different procedures were presented t...
Source: Analytica Chimica Acta - Category: Chemistry Authors: Tags: Anal Chim Acta Source Type: research
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