Resistance to autosomal dominant Alzheimer’s in an APOE3-Christchurch homozygote: a case report
We identified a PSEN1 (presenilin 1) mutation carrier from the world’s largest autosomal dominant Alzheimer’s disease kindred, who did not develop mild cognitive impairment until her seventies, three decades after the expected age of clinical onset.
Joseph F. Arboleda-Velasquez+43 more
semanticscholar +1 more source
Automatically Matching Bug Reports With Related App Reviews [PDF]
App stores allow users to give valuable feedback on apps, and developers to find this feedback and use it for the software evolution. However, finding user feedback that matches existing bug reports in issue trackers is challenging as users and developers often use a different language.
arxiv
Low‐density lipoprotein receptor‐related protein 6 (LRP6) is a key receptor for the Wnt antagonist Dickkopf1 (DKK1). DKK1 protein expression is induced in a bleomycin (BLM)‐induced lung injury model. We show that DKK1 induces proinflammatory and profibrotic genes in lung fibroblasts.
Eun‐Ah Sung+6 more
wiley +1 more source
Pregnancy-Associated Osteoporosis: Case Report - Case Report
Pregnancy associated osteoporosis is a rare complication manifested with back, low back pain after gestation, or in lactation period. The entity has been first described by Nordin and Roper in 1955.
Gülriz Özbek+6 more
doaj
Cyclic Generative Adversarial Networks With Congruent Image-Report Generation For Explainable Medical Image Analysis [PDF]
We present a novel framework for explainable labeling and interpretation of medical images. Medical images require specialized professionals for interpretation, and are explained (typically) via elaborate textual reports. Different from prior methods that focus on medical report generation from images or vice-versa, we novelly generate congruent image--
arxiv
Characteristics of the Kelch domain containing (KLHDC) subfamily and relationships with diseases
The Kelch protein superfamily includes 63 members, with the KLHDC subfamily having 10 proteins. While their functions are not fully understood, recent advances in KLHDC2's structure and role in protein degradation have highlighted its potential for drug development, especially in PROTAC therapies.
Courtney Pilcher+6 more
wiley +1 more source
Visual explanation of country specific differences in Covid-19 dynamics [PDF]
This report provides a visual examination of Covid-19 case and death data. In particular, it shows that country specific differences can too a large extend be explained by two easily interpreted parameters. Namely, the delay between reported cases and deaths and the fraction of cases observed.
arxiv
Insertion of the FeB cofactor in cNORs lacking metal inserting chaperones
Nitric oxide reductase is an enzyme found in the bacterial denitrification pathway. The NOR active site contains a non‐heme iron, often, but not always inserted with the assistance of chaperones. Here, we study the insertion of FeB in the subfamily of cNORs lacking chaperones and found a putative channel, conserved in the family, perhaps enabling the ...
Sofia Appelgren, Pia Ädelroth
wiley +1 more source
Guideline on writing a case report
Research is an important competency that should be mastered by medical professionals. It provides an opportunity for physicians to develop numerous skills including communication, collaboration, time management, and teamwork.
B. Alsaywid, Nada M Abdulhaq
semanticscholar +1 more source
Comparative Experimentation of Accuracy Metrics in Automated Medical Reporting: The Case of Otitis Consultations [PDF]
Generative Artificial Intelligence (AI) can be used to automatically generate medical reports based on transcripts of medical consultations. The aim is to reduce the administrative burden that healthcare professionals face. The accuracy of the generated reports needs to be established to ensure their correctness and usefulness.
arxiv