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1.
Medical Journal of Peking Union Medical College Hospital ; 12(1):1-4, 2021.
Article in Chinese | EMBASE | ID: covidwho-20245257

ABSTRACT

Coronavirus disease 2019(COVID-19) poses a challenge to hospitals for the prevention and control of public health emergencies. As the main battlefield of preventing and controlling COVID-19, large public hospitals should develop service protocols of diagnosis and treatment for outpatient, emergency, hospitalization, surgery, and discharge. The construction of medical protocols should be based on the risk factors of key points and focused on pre-inspection triage and screening, to establish a rapid response mechanism to deal with exogenous and endogenous risk factors. Implementation of all-staff training and assessment, strengthening the information system, and use of medical internet service are important. This study explores the construction of medical protocols in large public hospitals during the pandemic, and provides a reference for the orderly diagnosis and treatment in hospitals during the pandemic.Copyright © 2021, Peking Union Medical College Hospital. All rights reserved.

2.
Journal of Frontiers of Computer Science and Technology ; 17(5):1049-1056, 2023.
Article in Chinese | Scopus | ID: covidwho-20245250

ABSTRACT

The molecular docking-based virtual screening technique evaluates the binding abilities between multiple ligand compounds and receptors to screen for the active compounds. In the context of the global spread of the COVID-19 pandemic, large-scale and rapid drug virtual screening is crucial for identifying potential drug molecules from massive datasets of ligand structures. The powerful computing power of supercomputer provides hardware guarantee for drug virtual screening, but the super large-scale drug virtual screening still faces many challenges that affects the effective execution of the calculation. Based on the analysis of the challenges, this paper proposes a centralized task distribution scheme with a central database, and designs a multi-level task distribution framework. The challenges are effectively solved through multi-level intelligent scheduling, multi-level compression processing of massive small molecule files, dynamic load balancing and high error tolerance management technology. An easy-touse"tree”multi-level task distribution system is implemented. A fast, efficient and stable drug virtual screening task distribution, calculation and result analysis function is realized, and the computing efficiency is nearly linear. Then, heterogeneous computing technology is used to complete the drug virtual screening of more than 2 billion compounds, for two different active sites for COVID-19, on the domestic super computing system, which provides a powerful computing guarantee for the super large-scale rapid virtual screening of explosive malignant infectious diseases. © 2023, Journal of Computer Engineering and Applications Beijing Co., Ltd.;Science Press. All rights reserved.

3.
Clinical Immunology ; Conference: 2023 Clinical Immunology Society Annual Meeting: Immune Deficiency and Dysregulation North American Conference. St. Louis United States. 250(Supplement) (no pagination), 2023.
Article in English | EMBASE | ID: covidwho-20245167

ABSTRACT

Background: X-Linked Moesin-Associated Immune Deficiency (X-MAID) is a rare severe combined immunodeficiency (SCID) subtype that can present at any age due to its variability. Depending on severity, patients demonstrate failure to thrive, recurrent bacterial and viral infections, and increased susceptibility to varicella zoster. It has been characterized by marked lymphopenia with hypogammaglobulinemia and impaired T-cell migration and proliferation. Case Presentation: This is a report of a Cuban 7-year-old male with poor weight gain and facial dysmorphia. He had a history of recurrent bacterial gastrointestinal infections and pneumonia beginning at 4 months of age. He additionally had 4-6 upper respiratory tract and ear infections annually. While still living in Cuba, he was admitted for a profound EBV infection in the setting of significant leukopenia. A bone marrow biopsy confirmed no malignancy. After he moved to the United States, his laboratory work-up revealed marked leukopenia with low absolute neutrophil and lymphocyte count with low T and B cells, very low immunoglobulin levels IgG, IgA, and IgM, and poor vaccination responses to streptococcus pneumonia, varicella zoster, and SARS-CoV-2. Genetic testing revealed a missense pathogenic variant c.511C>T (p.Arg171Trp) in the moesin (MSN) gene associated with X-MAID. He was managed with Bactrim and acyclovir prophylaxis, and immunoglobulin replacement therapy, and considered for hematopoietic stem cell transplantation. Discussion(s): Diagnosis of X-MAID should be considered in patients with recurrent infections and profound lymphopenia. As with SCID, early diagnosis and intervention is of utmost importance to prevent morbidity and mortality. This case demonstrates the importance of genetic testing in identifying this disease as it may prompt an immunologist to consider HSCT if conservative management is suboptimal. In the current literature, HSCT appears promising, but the long-term outcomes have yet to be described.Copyright © 2023 Elsevier Inc.

4.
Cancer Research Conference: American Association for Cancer Research Annual Meeting, ACCR ; 83(7 Supplement), 2023.
Article in English | EMBASE | ID: covidwho-20244699

ABSTRACT

Cultural competency is the ability to respectfully engage, understand, and communicate through conscientious interaction, enabling effective work and meaningful relationships in cross-cultural situations. Cultural competency recognizes the importance for organizations of participants' diverse social and cultural values, beliefs, and behaviors, and has gained attention because it can bridge health perspectives, understanding, and respect between health professionals and patients. There remains a need for cultural competency in healthcare as disparities persist across the U.S. in racial and ethnic minority groups who experience worse health outcomes and lower healthcare quality than the general public. Therefore, a cultural competency training curriculum was created using various resources to improve interactions between Pacific Islander patients and healthcare professionals. This training helps to reduce racial/ethnic disparities in healthcare by encouraging mutual understanding and improving patient satisfaction, adherence to medical instructions, and overall health outcomes by highlighting patient-centered care as a result of utilizing components of cultural competency. To improve patient experiences in Hawai'i, healthcare professionals need the tools to better interact with patients from different cultures, such as Pacific Islanders. This training provides healthcare professionals with culturally-based content for improving cultural competence techniques for interacting with Pacific Island patients. This training was pilot tested with key stakeholders from community organizations and Cancer Center faculty/staff. Local health clinics, providers, and practices will have the opportunity to participate in this training through a Zoombased electronic training format and be provided with three continuing medical education credits. The initial delivery of the training was intended for in-person sessions;however, a virtual format was adapted due to the COVID-19 pandemic and subsequent social distancing regulations. Healthcare providers are provided pre-training resources, a pre- and post-test, and a course evaluation to determine the validity of training objectives. To date, two Federally Qualified Health Centers have been provided the training, n=60, as well as one Cancer Health Equity Partnerships' Scientific Workshop, n=40. For attendees, the analysis of correct responses from the pretest to post-test showed a significant improvement on 6 of the 12 questions. Respondents also agreed that the training resources aligned with the course objectives. Improved patient interactions from this training can help support better patient outcomes, adherence to medical advice regarding cancer screenings, and many other aspects of improving health equity for Pacific Islanders.

5.
Acta Anaesthesiologica Scandinavica ; 67(4):559-560, 2023.
Article in English | EMBASE | ID: covidwho-20244679

ABSTRACT

Background: COVID-19 has been associated with cerebral microbleeds (CMB). Previously, an association of ApoE4 with COVID-19 severity and CMBs in autopsy was found. In this study, we investigated if carrying the Apoe4 allele relates to the number of CMBs in magnetic resonance imaging (MRI) in patients recovered from COVID-19. Material(s) and Method(s): Adult patients recovered from COVID-19 and a control group without a history of COVID-19 was recruited. Exclusion criteria were major neurologic disease, developmental disability or pregnancy. The participants underwent brain MRI 6 months after infection, and a blinded neuroradiologist analyzed the findings. ApoE was genotyped using a microarray. Statistical analysis was performed using the statistical software R. A negative binomial model was chosen based on the distribution of CMBs. Result(s): Of the 216 subjects that underwent MRI, 168 consented to genetic testing, additionally 2 patients were excluded due to extensive CMBs and 1 due to diffuse axonal injury. We included 113 COVID-19 patients (49 ICU-treated, 29 ward-treated and 35 home-isolated) and 52 controls. The most prevalent comorbidities were hypertension, asthma and diabetes. CMBs was found in 47 subjects, with the number of CMBs ranging from 0 to 26. The ApoeE4 allele was carried by 37%, equally distributed among the groups. After adjustment, age (aRR = 1.06, p = 0.007) and COVID-19 (aRR = 2.59, p = 0.038) were independently associated with CMBs. The ApoE4 allele (aRR = 2.16, p = 0.07, CI = 0.94-5.10) was not significant. Conclusion(s): Age and previous COVID-19, but not possession of the ApoeE4 allele, were independently associated with the number of CMBs.

6.
Cancer Research, Statistics, and Treatment ; 5(3):594-595, 2022.
Article in English | EMBASE | ID: covidwho-20244193
7.
Value in Health ; 26(6 Supplement):S248, 2023.
Article in English | EMBASE | ID: covidwho-20243781

ABSTRACT

Objectives: The objective of this study is to measure the national impact of COVID-19 on cervical cancer screening rates in Colombia in five of its geographic regions to inform future health policy decision making. Method(s): This study utilized a quasi-experimental interrupted time-series design to examine changes in trends for the number of cervical cancer screenings performed in five geographic regions of Colombia. Result(s): In the rural region of Vichada, we found the lowest incidence of cervical cancer screenings, totaling at 3,771 screenings. In Cundinamarca, the region which hosts the capital city, a total of 1,213,048 cervical cancer screenings were performed. The researcher measured the impact on cervical cancer screenings in December 2021 against the counterfactual. This impact was ~269 cases that were not performed in December 2021 as a result of the COVID-19 pandemic compared to the counterfactual. In Cundinamarca, unlike other regions, we observed a stagnant pre-pandemic trend, a sharp drop in screenings in March 2020, and an immediate upward trend starting in April 2020. In the month of April 2020, compared to the counterfactual, there were 27,359 screenings missed, and by the month of December 2021, there were only 5,633 cervical cancer screenings missed. Conclusion(s): The region of Cundinamarca's sharp climb back to pre-pandemic screening levels could signal the relatively stronger communication system in the region, and especially in the capital district of Bogota, in re-activating the economy. This can serve as an example of what should be implemented in other regions to improve cervical cancer screening rates. Areas for further research include the examination of social determinants of health, such as the breakdown of the type of insurance screened patients hold (public versus private), zone (urban versus rural), insurance providers of those screened, ethnicities of the patients screened, and percentage of screenings that resulted in early detection of cervical cancer.Copyright © 2023

8.
Cancer Research, Statistics, and Treatment ; 4(2):414-415, 2021.
Article in English | EMBASE | ID: covidwho-20243017
9.
Value in Health ; 26(6 Supplement):S168-S169, 2023.
Article in English | EMBASE | ID: covidwho-20241790

ABSTRACT

Objectives: In the process of conducting research to understand barriers to colorectal cancer (CRC) screening in underrepresented groups such as Blacks and Hispanics, it became evident that there were also barriers to recruitment in this population. This study assesses the challenges faced in recruitment of focus group participants regarding CRC screening practices among underrepresented groups. Since the COVID-19 pandemic, qualitative research participants have primarily been interviewed through online video or audio interactions. However, as restrictions on in-person interactions have been lifted, in-person focus groups are being increasingly considered. Method(s): The study investigators began recruitment through community health workers in August 2022, when COVID-19 vaccines were available for all adults (age>18 years). Eligible individuals were: age 45-75, Black or Hispanic, with Medicaid or no insurance, and no family history of CRC or diagnosis of certain colon-related diseases. We combined in-person and virtual recruitment strategies, including posting flyers in communities, advertising our study at health fairs, and on social media. Participants would receive a $50 gift card. Result(s): Fifty-five met the eligibility criteria among 144 respondents, and 45 subjects (29 women and 16 men) agreed to be contacted. An average of 2.5 attempts were made per eligible subject. Unfortunately, we were able to recruit only four women (3 Hispanic and one non-Hispanic black). Traveling to the research site was a barrier to participation. Many subjects (49%) requested virtual participation (online video or audio interactions);some declined because the topic was too sensitive (considered taboo), and eligible men were reluctant to participate in-person. Conclusion(s): The requirement of in-person participation affected our recruitment goals, suggesting that COVID-19 has shifted the preferences of research participants to virtual interaction. In response to the eligible participant preferences, the study protocol has been revised to re-contact patients and schedule virtual FG sessions.Copyright © 2023

10.
Current Trends in Biotechnology and Pharmacy ; 17(2):907-916, 2023.
Article in English | EMBASE | ID: covidwho-20241386

ABSTRACT

The traditional de novo drug discovery is time consuming, costly and in some instances the drugs will fail to treat the disease which result in a huge loss to the organization. Drug repurposing is an alternative drug discovery process to overcome the limitations of the De novo drug discovery process. Ithelps for the identification of drugs to the rare diseases as well as in the pandemic situationwithin short span of time in a cost-effective way. The underlying principle of drug repurposing is that most of the drugs identified on a primary purpose have shown to treat other diseases also. One such example is Tocilizumab is primarily used for rheumatoid arthritis and it is repurposed to treat cancer and COVID-19. At present, nearly30% of the FDA approved drugs to treat various diseases are repurposed drugs. The drug repurposing is either drug-centric or disease centric and can be studied by using both experimental and in silico studies. The in silico repurpose drug discovery process is more efficient as it screens thousands of compounds from the diverse libraries within few days by various computational methods like Virtual screening, Docking, MD simulations,Machine Learning, Artificial Intelligence, Genome Wide Association Studies (GWAS), etc. with certain limitations.These limitationscan be addressed by effective integration of advanced technologies to identify a novel multi-purpose drug.Copyright © 2023, Association of Biotechnology and Pharmacy. All rights reserved.

11.
Cancer Research Conference: American Association for Cancer Research Annual Meeting, ACCR ; 83(7 Supplement), 2023.
Article in English | EMBASE | ID: covidwho-20241379

ABSTRACT

Introduction: Lung cancer is the leading cause of cancer-related death in the US with an estimated 236,740 new cases and 130,180 deaths expected in 2022. While early detection with low-dose computed tomography reduces lung cancer mortality by at least 20%, there has been a low uptake of lung cancer screening (LCS) use in the US. The COVID-19 pandemic caused significant disruption in cancer screening. Yet, little is known about how COVID-19 impacted already low use of LCS. This study aims to estimate LCS use before (2019) and during (2020 and 2021) the COVID-19 pandemic among LCS-eligible population in the US. Method(s): We used population-based, nationally representative, cross-section data from the 2019 (n=4,484), 2020 (n=1,239) and 2021 (n=1,673) Behavioral Risk Factor Surveillance System, Lung Cancer Screening module. The outcome was self-reported LCS use among eligible adults in the past 12 months. For 2019 and 2020, the eligibility was defined based on US Preventive Services Task Force (USPSTF) initial criteria-adults aged 55 to 80 years old, who were current and former smokers (had quit within the past 15 years) with at least 30 pack years of smoking history. For 2021, we used the USPSTF updated criteria- adults aged 50 to 80 years, current and former smokers (who had quit within the past 15 years) with at least 20 pack years of smoking history. We applied sampling weights to account for the complex survey design to generate population estimates and conducted weighted descriptive statistics and logistic regression models. Result(s): Overall, there were an estimated 1,559,137 LCS-eligible respondents from 16 US states in 2019 (AZ, ID, KY, ME, MN, MS, MT, NC, ND, PA, RI, SC, UT, VT, WV, WI), 200,301 LCS-eligible respondents from five states in 2020 (DE, ME, NJ, ND, SD), and 668,359 LCS-eligible respondents from four states in 2021 (ME, MI, NJ, RI). Among 2,427,797 LCS-eligible adults, 254,890;38,875;and 122,240 individuals reported receiving LCS in 2019, 2020 and 2021, respectively. Overall, 16.4% (95% CI 14.4-18.5), 19.4% (95% CI 15.3-24.3), and 18.3% (95% CI 15.6-21.3) received LCS during 2019, 2020, and 2021, respectively. In all years, the proportion of LCS use was higher among adults aged 65-74, insured, those with fair and poor health, lung disease and history of cancer (other than lung cancer). In 2020, a higher proportion of adults living in urban areas reported receiving LCS compared to those living in rural areas (20.36% vs. 12.7%, p=0.01). Compared to non-Hispanic White adults, the odds of receiving LCS was lower among Hispanic adults and higher among Non-Hispanic American Indian/Alaskan Native adults in 2020 and 2021, respectively. Conclusion(s): LCS uptake remains low in the US. An estimated 2,011,792 adults at high-risk for developing lung cancer did not receive LCS during 2019, 2020 and 2021. Efforts should be focused to increase LCS awareness and uptake across the US to reduce lung cancer burden.

12.
Digital Mammography: A Holistic Approach ; : 125-135, 2022.
Article in English | Scopus | ID: covidwho-20241159

ABSTRACT

The pandemic led to a pause in routine breast screening in the UK, with up to one million not being offered appointments (Breast Cancer Now, Almost one million women in UK miss vital breast screening due to COVID-19, 2022). However, according to a Nuffield report, even before this, breast cancer screening in the UK had yet to reach its 'optimal performance standard of 80%' (Nuffield, Cancer screening-quality watch, 2022). In usual times, this has meant that with screening rates in excess of 70%, over two million women have been screened annually in the UK. However, breast cancer is also the most common cancer in women in the UK (Office for National Statistics, Cancer registration statistics, 2017), with 85% survival 5 years after diagnosis (Office for National Statistics, Cancer survival in England - adults diagnosed 2019) and it remains clear that screening can help reduce breast cancer mortality (Office for National Statistics, Cancer registration statistics, 2017). So why would 25% or more fail to accept an invitation for a routine mammogram which may ultimately help save their lives? This chapter considers a range of psychological factors relevant to understanding this phenomenon and hopefully bring about a positive change. © Springer Nature Switzerland AG 2015, 2022. All rights reserved.

13.
Cancer Research, Statistics, and Treatment ; 5(3):593-594, 2022.
Article in English | EMBASE | ID: covidwho-20240277
14.
Maturitas ; 173:57, 2023.
Article in English | EMBASE | ID: covidwho-20240101

ABSTRACT

The structure of the presentation will be 1) Pandemic-Epidemiology 2) General Pandemic-Management 3) HRT and COVID 4) Different spectrum of menopausal symptoms (Europe/Asia) 5) Different risks lead to different HRT. 1) Pandemic-Epidemiology: SARS-COVID-19 has got to be a new disease, China was the first to suffer from the pandemic starting in December 2019 with spread all over the world. Diagnosis, treatment and protective measures have started in Europe in March 2020;up from autumn 2022 in Europe the pandemic changed to endemic, but protective measures still should be continued in risk patients like in hospitals and nursing homes. Rehabilitation will for long-time be an issue like treatment of "Post-" and "Long-COVID". China pursued a zero-COVID-policy until Dec 2022. The sudden stop of almost all measures led to a sharp increase in infections, which shows that the disease will remain a global risk. 2) General Pandemic-Management: Protective measures like vaccination, surgical masks, screening/testing, isolation management, travel/residence history in high-risk regions, education of patients and families had to be the first priority, ahead of other issues such as the management of menopause. 3) HRT and COVID: Already the first prelimary data assessed in Wuhan/China have shown that women with low estradiol-levels had more severe infections with COVID. An analysis of health records of 68,466 COVID-positive patients from 17 countries showed that the fatality risk for women > 50 years receiving HRT was reduced by more than 50% compared to those women not taking HRT (Seeland, 2020). Likewise from a case-control study analyzing the self-reported data of 1.6 million UK menopausal women through the COVID-Symptoms Study Smartphone application (control populations adjusted for age, body mass index, and smoking status) was concluded, that HRT not only can be used, but even can protect from COVID-infections and/or their sequelae (Costeira, 2021). 4) The different spectrum of menopausal symptoms (independent of COVID-infections) comparing data in Europe (showing more vasomotor symptoms) and China (more somatic symptoms) will be presented, including own data. 5) Different risks during HRT consequently lead to different use of HRT, especially more transdermal estrogen combined with progesterone in Europe due to much higher VTE-risk, but more management of the high bleeding-problems in China using individualized (mostly oral) estrogen/progestogen combinations. Copyright © 2023

15.
British Journal of Haematology ; 201(Supplement 1):81, 2023.
Article in English | EMBASE | ID: covidwho-20240027

ABSTRACT

NHS England Genomics introduced whole genome sequencing (WGS) with standard-of- care (SoC) genetic testing for haemato-oncology patients who meet eligibility criteria, including patients with acute leukaemia across all ages, and exhausted SoC testing. Alongside, the role of germline mutations in haematological cancers is becoming increasingly recognised. DNA samples are required from the malignant cells (somatic sample) via a bone marrow aspirate, and from non-malignant cells (germline sample) for comparator analysis. Skin biopsy is considered the gold-standard tissue to provide a source of fibroblast DNA for germline analysis. Performing skin punch biopsies is not within the traditional skillset for haematology teams and upskilling is necessary to deliver WGS/germline testing safely, independently and sustainably. A teaching programme was designed and piloted by the dermatology and haematology teams in Sheffield and delivered throughout the NHS trusts in North East & Yorkshire Genomic Laboratory Hub. The training programme consisted of a 90-min session, slides, video and practical biopsy on pork belly or synthetic skin, designed to teach up to six students at one time. To disseminate best practice, the standard operating procedure and patient information used routinely in Sheffield were shared, to be adapted for local service delivery. From January 2021 to December 2022, 136 haematology staff from 11 hospitals, including 34 consultants, 41 registrars, 34 nurses and 8 physician associates, across the NEY GLH region completed the skin biopsy training programme. Feedback from the course was outstanding, with consistently high scores in all categories. Practical components of the course were especially valued;98.6% (71/72) trainees scored the practical element of the programme a top score of 5 out of 5, highlighting that despite the challenges of delivering face-to- face teaching due to COVID-19, teaching of practical skills was highly valued;training in this way could not have been replicated virtually. Costs of the programme have been approximately 16 000, including consultant input and teaching/educational materials. Recent support has been provided by a separately funded Genomic Nurse Practitioner (GNP), with succession planning for the GNP to take over leadership from the consultant dermatologist. Plans are in place to use the remaining budget to disseminate the programme nationally. Our training programme has shown that skin biopsy can be formally embedded into training for haematology consultants, trainees, nursing team, and physician associates. Delivery of training can be effective and affordable across regional GLHs with appropriate leadership and inter-speciality coordination, and ultimately sustainable with specialist nursing staff, including GNPs.

16.
Clinical Immunology ; Conference: 2023 Clinical Immunology Society Annual Meeting: Immune Deficiency and Dysregulation North American Conference. St. Louis United States. 250(Supplement) (no pagination), 2023.
Article in English | EMBASE | ID: covidwho-20239944

ABSTRACT

Introduction: Variants in PPP1R13L are associated with severe childhood-onset cardiomyopathy resulting in rapid progression to death or cardiac transplantation. PPP1R13L is proposed to encode a protein that limits the transcriptional activity of the NFkappaB pathway leading to elevated IL-1, IL-6, and TNF-alpha production in murine models. Optimal medical management for PPP1R13L-related cardiomyopathy is unknown. Here we report usage of a targeted anti-IL-1 immuno-modulatory therapy resulting in cardiac stabilization in a pediatric patient with congenital cardiomyopathy secondary to PPP1R13L variants. Case Report: A 4-year-old boy presented acutely with fever in the setting of persistent abdominal pain, vomiting, fatigue, and decreased appetite for two months following a mild COVID-19 related illness. Echocardiogram revealed severely depressed biventricular systolic function with an ejection fraction of 30%. Due to acute decompensated heart failure symptoms with hemodynamic instability, he was intubated and placed on continuous inotropic infusions with aggressive diuresis. Cardiac MRI demonstrated extensive subepicardial to near transmural fibrosis by late gadolinium enhancement in right and left ventricles. An implantable cardioverter-defibrillator (ICD) was placed due to frequent runs of polymorphic non-sustained ventricular tachycardia. Testing for viral pathogens was positive for rhino/enterovirus. Initial genetic testing was non-diagnostic (82-gene cardiomyopathy panel) but given the patient's significant presentation whole genome sequencing was pursued that showed two separate PPP1R13L variants in trans (c.2167A>C,p.T723P and c.2179_2183del,p. G727Hfs*25, NM_006663.4). Patient serum cytokine testing revealed elevations in IL-10 (4.7 pg/mL) and IL-1beta (20.9 pg/mL). Given the patient's tenuous circumstances and concern for continued progression of his cardiac disease, a trial of IL-1 inhibition via anakinra dosed at 3 mg/kg or 45 mg daily was initiated following hospital discharge. With approximately 6 months of therapy, the patient's cardiac function is stable with normalization of IL-10 and IL-1beta serum levels. Notably, the ventricular arrhythmia decreased after initiation of anakinra with no ICD shocks given. Therapy overall has been well tolerated without infectious concerns. Conclusion(s): In patients with PPP1R13L-related cardiomyopathy, immuno-modulatory therapies should be considered in an attempt to slow cardiac disease progression.Copyright © 2023 Elsevier Inc.

17.
European Journal of Human Genetics ; 31(Supplement 1):343, 2023.
Article in English | EMBASE | ID: covidwho-20239714

ABSTRACT

Background/Objectives: During COVID-19 pandemic, it is essential to detect patients potentially at risk of life-threatening complications, due to possible specific genetic mutations. The aim of our work is to show a practical application of genetic testing, allowing a diagnosis of alpha 1 antitrypsin deficiency in cases with a severe clinical course during COVID-19 infection. Method(s): During hospitalization for COVID-19, we identified 5 patients (3 female, 2 males from two different families, age range 18-47 years) with a severe course of COVID-19 infection, requiring high pressure ventilation with high volume oxygen supply. Two months after discharge, those patients were reevaluated with respiratory function tests, biochemical tests, genetic counselling and genetic testing. A peripheral blood sampling for SERPINA1 genetic testing has been performed, using Sanger sequencing. Result(s): Two months after discharge, in all 5 patients respiratory function tests were consistent with a dysventilatory obstructive syndrome, in contrast with usual findings related to COVID-19 infection. Blood test still showed increase plasmatic transaminase concentration in 3 out of 5 patients, one having increased serum bilirubin as well. We performed SERPINA1 genetic testing showing homozygosity for SERPINA1 pathogenic mutations (c.193del and c.875C>T, respectively) in all 5 patients. Conclusion(s): These cases showed the importance of genetic testing for patients with unexplained severe COVID-19 infection. Genetic testing allowed the diagnosis of cases affected by alpha 1 antitrypsin deficiency, associated with dysventilatory obstructive syndrome, that may worsen the short and long term prognosis of COVID-19.

18.
Hepatoma Research ; 8(no pagination), 2022.
Article in English | EMBASE | ID: covidwho-20239461
19.
Kanzo/Acta Hepatologica Japonica ; 63(10):463-464, 2022.
Article in Japanese | EMBASE | ID: covidwho-20239451

ABSTRACT

Immunosuppressive drugs are used for treating coronavirus disease 2019COVID-19pneumonia. This study examined the current status of screening and monitoring patients with COVID-19 pneumonia treated with immunosuppressive agents for hepatitis B virusHBVreactivation. Of 123 patients whose hepatitis B surface antigen level was measured, 2 were HBsAg-positive. Antihepatitis B core/surface antibodies were measured in all 121 HBsAg-negative patients. HBV DNA was measured in 31 of 32 patients who were positive for either or both antihepatitis B core/surface antibodies. Of 34 patients requiring regular monitoring, only 4 were monitored. The HBV monitoring rate at the initiation of COVID-19 treatment was high. How-ever, HBV monitoring after COVID-19 treatment was difficult because most patients were transferred to other hospitals or had their treatment terminated.Copyright © 2022 Takeshi Matsui et al.

20.
COVID-19 in Alzheimer's Disease and Dementia ; : 307-314, 2023.
Article in English | Scopus | ID: covidwho-20239337

ABSTRACT

Screening for early detection of Alzheimer's disease (AD) through a comprehensive eye exam appears to be promising and could potentially provide a more sensitive, inexpensive way to visualize early signs of AD for early detection in large populations. Optical coherence tomography (OCT), as well as retinal imaging techniques such as Doppler and fluorescence lifetime imaging ophthalmoscopy (FLIO), can detect signs of early AD such as vascular changes or accumulations of Tau proteins and beta-amyloid proteins. In the age of COVID-19, this screening opportunity is threatened by increased no-show rates leading to decreased early detection of AD. Through the combination of COVID-19 neuroinflammation potentially augmenting AD neurodegeneration, as well as missed opportunity in the use of early ophthalmic detection, the pandemic may have significantly worsened the trajectory of AD. © 2023 Elsevier Inc. All rights reserved.

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