Impacts of COVID-19 on reproductive health and prenatal genetics

COVID-19 has a dramatic impact on human health, besides respiratory system, reproduction system would be impaired by SARS-CoV-2. For male, the virus has various negative impacts on testes, including overheating and hormone level fluctuation, which have impacts on the spermatogenesis or spermatogonia development. For female, COVID-19 may increase the risk of endocrine and metabolic dysfunction. However, the impact of SARS-CoV-2 on the ovaries is not clear, and further researches are needed to clarify it. Nearly 60% of the pregnant women develop symptoms of infection and more attention should be paid to the increased risk of adverse pregnancy outcomes including preeclampsia, eclampsia, and severe infection. For the newborns of infected pregnant women, vertical transmission of SARS-CoV-2 is still unclear, and further evaluation are required. Meantime, the pregnant women's fear of the potential infection may reduce their access to the prenatal genetic test. In this chapter, we summarize the latest basic and clinical researches on COVID-19 impacts on male, female reproduction, and prenatal genetic test, hoping to provide guidance and advice for people of reproductive age and reproductive healthcare practitioners. © 2023 Elsevier Inc. All rights reserved.

Molecular Diagnostics on Smartphone

During the COVID-19 pandemic, point-of-care genetic testing (POCT) devices were used for on-time and on-site detection of the virus, which helped to prevent and control the spread of the pandemic. Smartphones, which are widely used electronic devices with many functions, have the potential to be used as a molecular diagnostic platform for universal healthcare monitoring. Several integrated diagnostics platforms for the real-time and end-point detection of COVID-19 were developed using the functions of smartphones, such as the operating system, power, sound, camera, data storage, and display. These platforms use the 5V output power of smartphones, which can be amplified to power a micro-capillary electrophoresis system or a thin-film heater, and the CMOS camera of smartphones can capture the color change during a colorimetric loop-mediated isothermal amplification test and detect fluorescence signals. Smartphones can also be used with self-written web-based apps to enable automatic and remote pathogen analysis on POCT platforms. Our lab developed a handheld micro-capillary electrophoresis device for end-point detection of SARS-CoV-2, as well as an integrated smartphone-based genetic analyzer for the qualitative and quantitative colorimetric detection of foodborne pathogens with the help of a custom mobile app. © 2023 SPIE.

A Tale of Two Counties With the Same Telehealth Story: Experience with Cancer Genetics Testing During COVID-19 at a Community Hospital

Introduction: With the onset of the COVID-19 pandemic in 2020, the utilization of telemedicine now offered an alternative diagnostic and treatment resource to providers in many areas of medicine including oncology and cancer genetics. This care option paired with genetic testing labs' ability to send saliva-based DNA collection kits to patients, enabled our community hospital in Detroit to offer diagnostic testing without the patient coming to a healthcare setting for a host of reasons. Social determinants of health have been found to influence success with telehealth, and this study sought to analyze how successful telehealth cancer genetics care was throughout the Detroit Metro area. Methods: Patient demographics for in person visits six months before COVID were analyzed, and then compared with demographics of patients during the 2020-2021 pandemic period where visits were telehealth. Results: Pre-pandemic there were , 192 unique patients seen in person with the top three cities patients were from were Detroit (12.1%), Clinton Township (8.3%), and Saint Clair Shores (10.4%). During the pandemic, with telehealth as the major modality, the top three cities were Macomb (7.2%), Detroit (7%), and Clinton Township (7%). Detroit is in Wayne County, while St.Clair Shores and Clinton Township are in Macomb County. Per the US Census Bureau Macomb county has a median income of $64,641 and Wayne county has a median income of $49,359, and poverty level in Macomb county is 9.2% versus in Wayne the level is 20%. Conclusions: This paper outlines the challenges of initiating a telemedicine program in an urban community area and highlights the benefits of a concierge service in serving cancer patients who may have economic and historically poor perceived technologic abilities.

The added value of molecular-based diagnostics in the African forensic medical setting.

Sudden unexpected infant death (SUDI) is reported to be an extraordinarily high burden in sub-Saharan Africa, with the incidence rate in South Africa among the highest in the world. It is common for the cause of many such infant deaths to remain unexplained even after a full medico-legal death investigation, and then to be categorised as a sudden unexplained infant death (SUID). Fortunately, advances in molecular-based diagnostics allow researchers to identify numerous underlying inherited cardiac arrhythmogenic disorders in many SUDI cases, with a predominance of variants identified in the SCN5A gene. Such cardiac arrhythmogenic-related sudden deaths generally present with no structural alterations of the heart that are macroscopically identifiable at autopsy, therefore highlighting the importance of post mortem genetic testing. We report on a significant genetic finding that was made on a SUDI case in which the cause was ascribed to an acute bacterial pneumonia but it was still subjected to post mortem genetic testing of the SCN5A gene. The literature shows that many SUDI cases diagnosed with inherited cardiac arrhythmogenic disorders have demonstrated a viral prodrome within days of their death. It is therefore not uncommon for these cardiac disorders in infants to be mistaken for flu, viral upper respiratory tract infection or pneumonia, and without the incorporation of post mortem genetic testing, any other contributory causes of these deaths are often disregarded. This study highlights the need for research reporting on the genetics of inherited cardiac disorders in Africa.

Drama as a Powerful Tool to Enrich Socio-scientific Argumentation.

Socio-scientific argumentation (SSA) is increasingly being recognized as a key aspect of scientific literacy. Much of the reason for this is that this skill is crucial for helping students to become active participants in twenty-first-century democratic societies in which the construction of informed and critical views of socio-scientific issues (e.g. climate change, COVID-19 vaccination, genetic testing) plays a fundamental role. The problem is that instructors rarely give students explicit and research-based opportunities to enrich their SSA skills. Therefore, the aim of this study was to provide evidence that drama can be used as a platform to enrich argumentation in genetic testing. The data were derived from the written responses and the audio recordings of seventy-six university students (37 females and 39 males, 16-29 years old) in Colombia during a complete drama-based teaching-learning sequence (TLS) supervised by the same instructor. The outcomes suggest that the sequence can be used to enrich argumentation in genetic testing as it effectively provided participants with explicit opportunities to produce both arguments and counterarguments about the controversy whether the use of genetic tests among people should be encouraged. This study contributes to the literature on SSA in science education by demonstrating that drama is a promising tool to enhance argumentation about science-based social issues. Supplementary Information: The online version contains supplementary material available at 10.1007/s10763-022-10320-3.

An Evolving Relationship Between Medical Oncologists and Genetic Counselors in Prostate Cancer

Important to the success of this model would likely be the degree of clinician experience (ie, how comprehensive their genetic counseling training has been), the clinician's comfort level, and the supporting staff or resources available to the clinician to operate a provider-led germline testing model.4 Members of a consensus panel discussing germline testing have pointed out that clinicians who lack genetics training may experience numerous obstacles when counseling patients, in particular obstacles related to limited knowledge of the downstream impact of genetic testing, such as health insurance coverage, implications for life insurance, and protections afforded by the Genetic Information Nondiscrimination Act.5 Discussions about the importance and management of variants of unknown significance could be confusing for the patient even in the posttesting stage without appropriate knowledge and training on the clinician's part. Mauer et al have described the value of virtual counseling and technological adaptations, including billing practices and coordination of education and outreach opportunities, that have been made during the pandemic and have helped genetic counselors.6 Such adaptations represent only a few of the evolving strategies that we as medical oncologists, in conjunction with our health care team, must seek out and implement to help our genetic counseling colleagues reach an expanding population of prostate cancer patients in need of evidence-based germline testing. Inherited DNA-repair gene mutations in men with metastatic prostate cancer.

Microfluidic Devices for Biosensing

This article focuses on recent developments in microfluidic, lab on a chip technologies to enable point of care (POC) medical diagnostic devices, which can detect and monitor diseases outside of hospital settings. We provide a summary of the techniques to interface biological samples from macro-world to micro environments, on-chip processing steps to extract, isolate and transfer biomarkers of interest, and recent approaches to integrate advanced detection technologies in portable and easy to use devices. We highlight different applications of the proposed technologies, and review microfluidic methods proposed for the detection of infectious diseases such as COVID-19 caused by the novel Corona Virus. © 2023 Elsevier Ltd. All rights reserved

Targeted genetic analysis unveils novel associations between ACE I/D and APO T158C polymorphisms with D-dimer levels in severe COVID-19 patients with pulmonary embolism.

Only a percentage of COVID-19 patients develop thrombotic complications. We hypothesized that genetic profiles may explain part of the inter-individual differences. Our goal was to evaluate the genotypic distribution of targeted DNA polymorphisms in COVID-19 patients complicated (PE+) or not (PE-) by pulmonary embolism. We designed a retrospective observational study enrolling N = 94 consecutive patients suffering severe COVID-19 with pulmonary embolism (PE+, N = 47) or not (PE-, N = 47) during hospitalization. A panel of N = 13 prothrombotic DNA polymorphisms (FV R506Q and H1299R, FII G20210A, MTHFR C677T and A1298C, CBS 844ins68, PAI-1 4G/5G, GPIIIa HPA-1 a/b, ACE I/D, AGT T9543C, ATR-1 A1166C, FGB - 455G > A, FXIII103G > T) and N = 2 lipid metabolism-related DNA polymorphisms (APOE T 112C and T158C) were investigated using Reverse Dot Blot technique. Then, we investigated possible associations between genotypic subclasses and demographic, clinical, and laboratory parameters including age, obesity, smoking, pro-inflammatory cytokines, drug therapy, and biomarkers of thrombotic risk such as D-dimer (DD). We found that 58.7% of PE+ had homozygous mutant D/D genotype at ACE I/D locus vs. PE- (40.4%) and 87% of PE+ had homozygous mutant C/C genotype at APOE T158C locus vs. PE- (68.1%). In PE+ group, DD levels were significantly higher in D/D and I/D genotypes at ACE I/D locus (P = 0.00066 and P = 0.00023, respectively) and in C/C and T/C genotypes at APOE T158C locus (P = 1.6e-06 and P = 0.0012, respectively) than PE- group. For the first time, we showed significant associations between higher DD levels and ACE I/D and APOE T158C polymorphisms in PE+ vs. PE- patients suggesting potential useful biomarkers of poor clinical outcome.

Remote vs in-person BRCA1/2 non-carriers test disclosure: patients' choice during Covid-19 pandemic restriction.

During Covid-19 pandemic most hospitals have restricted in-person delivery of non-essential healthcare services, including genetic testing delivery, to slow the spread of the virus. Our Onco-Genetic Service also faced this challenging period and had to re-organize its clinical practice with the use of tele-health. Aim of the present paper is to understand whether and how Covid-19-related changes in medical practice influenced patients' satisfaction about the health service provided. 125 BRCA1/2 non carriers (109/125, 87.2% female and 16/125, 12.8% male) in Istituto Tumori "Giovanni Paolo II" of Bari were enrolled. All participants were asked to choose whether they prefer in-person or remote post-test counselling session. Basing on patients' choice, two groups of subjects were composed. One week after the post-test counselling session, participants were phone called and asked to complete: a socio-demographic form, a brief structured interview about their Covid-19 related worries and their satisfaction with the health service provided, Hospital Anxiety and Depression Scale and Fear of Covid-19 scale. Qualitative information about patients' choice were also collected. No significant difference about patients' satisfaction with the health service provided emerged between groups. Patients who preferred remote post-test counselling had higher anxiety, worries and fear-of Covid-19 than the others. All remote-counselling subjects preferred tele-genetics because of Covid-19 security, would choose it again and would recommend it to others. Cancer tele-genetics offers good guarantees of comfort and efficacy, but patients' choices are related to personal and psychological variables. The use of tele-genetics has to be a patient's choice.

Secondary Educators' Writing Practices for Students with Disabilities: Examining Distance Learning and In-Person Instruction

We report results of a national survey of secondary teachers who teach special education and/or English language arts in the United States. A total of 50 teachers from 27 different states completed the survey. In the survey, we asked teachers about their experience delivering distance and in-person instruction during the COVID-19 pandemic. We specifically focused on three broad areas: writing assignments, writing instructional practices, and adaptations used to support students with disabilities. We also collected information about teacher characteristics, technology use, and teacher attitudes and self-efficacy about writing. On average, teachers reported receiving minimal preparation to teach writing via distance or in-person instruction. When compared to in-person instruction, teachers reported using fewer writing assignments, evidence-based writing practices, and adaptations for students with disabilities during distance learning. We provide implications for teacher professional development and detail limitations related to sample size and response rate © The Author(s) 2022.

A digital pathway for genetic testing in UK NHS patients with cancer: BRCA-DIRECT randomised study internal pilot.

BACKGROUND: Germline genetic testing affords multiple opportunities for women with breast cancer, however, current UK NHS models for delivery of germline genetic testing are clinician-intensive and only a minority of breast cancer cases access testing. METHODS: We designed a rapid, digital pathway, supported by a genetics specialist hotline, for delivery of germline testing of BRCA1/BRCA2/PALB2 (BRCA-testing), integrated into routine UK NHS breast cancer care. We piloted the pathway, as part of the larger BRCA-DIRECT study, in 130 unselected patients with breast cancer and gathered preliminary data from a randomised comparison of delivery of pretest information digitally (fully digital pathway) or via telephone consultation with a genetics professional (partially digital pathway). RESULTS: Uptake of genetic testing was 98.4%, with good satisfaction reported for both the fully and partially digital pathways. Similar outcomes were observed in both arms regarding patient knowledge score and anxiety, with <5% of patients contacting the genetics specialist hotline. All progression criteria established for continuation of the study were met. CONCLUSION: Pilot data indicate preliminary demonstration of feasibility and acceptability of a fully digital pathway for BRCA-testing and support proceeding to a full powered study for evaluation of non-inferiority of the fully digital pathway, detailed quantitative assessment of outcomes and operational economic analyses. TRIAL REGISTRATION NUMBER: ISRCTN87845055.

Distress facing increased genetic risk of cancer: The role of social support and emotional suppression.

OBJECTIVES: Healthy individuals from hereditary cancer families undergoing genetic testing for cancer susceptibility (GTC) report more distress when they perceive their social support as low and suppress their emotions. This study aimed to explore how suppressing emotions and perceiving others as unsupportive are related with cancer-risk distress. METHODS: We performed a regression-based mediation analysis to assess if expressive suppression mediates or is mediated by perceived social support in the relation with cancer-risk distress. Participants were 125 healthy adults aged over 18 (M = 36.07, SD = 12.86), mostly female (72,4%), who undergone GTC to assess the presence of hereditary breast and ovarian cancer or Lynch syndromes. RESULTS: Controlling for age and gender, we found a moderate size indirect effect of social support on cancer-risk distress through expressive suppression (ß = -0.095) and a direct effect of expressive suppression on cancer-risk distress. CONCLUSIONS: When healthy individuals from hereditary cancer families perceive their social network as less responsive, they tend to not express their emotions, which relates to increased distress facing GTC. PRACTICE IMPLICATIONS: Practitioners may assess cancer-risk related distress before the GTC and offer distressed individuals interventions focused on changing emotion regulation strategies in a safe group context.

Eosinophilic Infiltration of the Sino-Atrial Node in Sudden Cardiac Death Caused by Long QT Syndrome.

Sudden death is defined as the unexpected death of a healthy person that occurs within the first hour of the onset of symptoms or within 24 h of the victim being last seen alive. In some of these cases, rare deleterious variants of genes associated with inherited cardiac disorders can provide a highly probable explanation for the fatal event. We report the case of a 21-year-old obese woman who lost consciousness suddenly in a public place and was pronounced dead after hospital admission. Clinical autopsy showed an inconclusive gross examination, while in the histopathological analysis an eosinophilic inflammatory focus and interstitial fibrosis in the sino-atrial node were found. Molecular autopsy revealed an intronic variant in the KCNQ1 gene (c.683 + 5G > A), classified as likely pathogenic for long QT syndrome according to the guidelines provided by the American College of Medical Genetics and Genomics. Therefore, there were many anomalies that could have played a role in the causation of the sudden death, such as the extreme obesity, the cardiac anomalies and the KNCQ1 variant. This case depicts the difficult interpretation of rare cardiac structural abnormalities in subjects carrying rare variants responsible for inherited arrhythmic disorders and the challenge for the forensic pathologist to make causal inferences in the determinism of the unexpected decease.

Microfluidic Devices for Biosensing

This article focuses on recent developments in microfluidic, lab on a chip technologies to enable point of care (POC) medical diagnostic devices, which can detect and monitor diseases outside of hospital settings. We provide a summary of the techniques to interface biological samples from macro-world to micro environments, on-chip processing steps to extract, isolate and transfer biomarkers of interest, and recent approaches to integrate advanced detection technologies in portable and easy to use devices. We highlight different applications of the proposed technologies, and review microfluidic methods proposed for the detection of infectious diseases such as COVID-19 caused by the novel Corona Virus.

A Lateral Flow Assay for Nucleic Acid Detection Based on Rolling Circle Amplification Using Capture Ligand-Modified Oligonucleotides.

We introduce a lateral flow assay (LFA) integrated with a modified isothermal nucleic acid amplification procedure for rapid and simple genetic testing. Padlock probes specific for the target DNA were designed for ligation, followed by rolling circle amplification (RCA) using capture ligand-modified oligonucleotides as primers. After hybridization with detection linker probes, the amplified target DNA is flowed through an LFA membrane strip for binding of gold nanoparticles as the substrate for colorimetric detection. We established and validated the "RCA-LFA" method for detection of mecA, the antibiotic resistance gene for methicillin-resistant Staphylococcus aureus (MRSA). The assay was optimized using various concentrations of primers and probes for RCA and LFA, respectively. The sensitivity was determined by performing RCA-LFA using various amounts of mecA target DNA, showing a detection limit of ~ 1.3 fmol. The specificity of the assay was examined using target DNAs for other resistance genes as the controls, which demonstrated positive detection signals only for mecA DNA, when added either individually or in combinations with the control targets. Furthermore, applying the RCA-LFA method using specifically designed probes for RNA-dependent RNA polymerase (RdRp) and receptor binding domain (RBD) gene for SARS-CoV-2, which demonstrated feasibility of the method for viral gene targets. The current method suggests a useful platform which can be universally applied for various nucleic acid targets, allowing rapid and sensitive diagnosis at point-of-care. Supplementary Information: The online version contains supplementary material available at 10.1007/s13206-022-00080-1.

Impact of inactivated SARS-CoV-2 vaccination on embryo ploidy: a retrospective cohort study of 133 PGT-A cycles in China.

BACKGROUND: Unsubstantiated concerns have been raised on the potential correlation between severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) vaccination and infertility, leading to vaccine hesitancy in reproductive-aged population. Herein, we aim to evaluate the impact of inactivated SARS-CoV-2 vaccination on embryo ploidy, which is a critical indicator for embryo quality and pregnancy chance. METHODS: This was a retrospective cohort study of 133 patients who underwent preimplantation genetic testing for aneuploidy (PGT-A) cycles with next-generation sequencing technology from June 1st 2021 to March 17th 2022 at a tertiary-care medical center in China. Women fully vaccinated with two doses of Sinopharm or Sinovac inactivated vaccines (n = 66) were compared with unvaccinated women (n = 67). The primary outcome was the euploidy rate per cycle. Multivariate linear and logistic regression analyses were performed to adjust for potential confounders. RESULTS: The euploidy rate was similar between vaccinated and unvaccinated groups (23.2 ± 24.6% vs. 22.6 ± 25.9%, P = 0.768), with an adjusted ß of 0.01 (95% confidence interval [CI]: -0.08-0.10). After frozen-thawed single euploid blastocyst transfer, the two groups were also comparable in clinical pregnancy rate (75.0% vs. 60.0%, P = 0.289), with an adjusted odds ratio of 6.21 (95% CI: 0.76-50.88). No significant associations were observed between vaccination and cycle characteristics or other laboratory and pregnancy outcomes. CONCLUSIONS: Inactivated SARS-CoV-2 vaccination had no detrimental impact on embryo ploidy during in vitro fertilization treatment. Our finding provides further reassurance for vaccinated women who are planning to conceive. Future prospective cohort studies with larger datasets and longer follow-up are needed to confirm the conclusion.

Examining the perceived transparency of DTC genetic testing company communication and its impact on consumer trust, attitude and behavioral intentions

Purpose>This study examines perceived transparency of direct-to-consumer (DTC) genetic testing communication and measures its impact on consumers' trust, attitudes, and the intention to recommend the test to others.Design/methodology/approach>An online survey of US–based adults (over 18 years of age) (N = 271) was administered by the online panel company Qualtrics Panels. The sample consisted of participants who have taken a DTC genetic test previously because only existing consumers could provide insight into companies' transparency about the entire genetic testing process (including the communication before, during, and after) as they experienced it. Participants were asked questions that measured intention to recommend DTC genetic tests to others, trust, attitude toward the DTC testing, and perceptions of transparency of the DTC companies' communication.Findings>Results indicated that consumers who perceive DTC genetic testing companies to be transparent in their communication tend to trust the genetic testing process more, have more positive attitudes toward DTC genetic tests, and are more likely to recommend the tests to others.Research limitations/implications>This study integrates corporate communication and science communication through the theoretical framework of transparency. It empirically demonstrates that message transparency is key to increasing the publics' trust, attitude and behavioral intentions toward companies that involve sensitive health information or online privacy.Originality/value>This paper answers previous calls to explore the organizational approach of science communication in the context of the under-examined companies in the science and health sectors, specifically the DTC genetic testing industry.

Rare malignant adnexal tumour of the skin involving distal phalanx of right thumb with co-existing primary lung cancer in a 72-year-old patient: A case report.

INTRODUCTION AND IMPORTANCE: Malignant adnexal tumours of the skin are a group of rare malignancies. These tumours can further differentiate into eccrine, apocrine, sebaceous, sweat duct, or ceruminous glands within the skin or follicular cells. Sebaceous carcinoma, a malignant adnexal tumour of the skin, is a rare and malignant tumour of the sebaceous glands. They can occur anywhere in the body where sebaceous glands are present, the most common being the head and neck region. CASE REPORT: Here we report a case of a 72-year-old man who presented with a bleeding ulcer on the distal right thumb, which was progressively increasing in size. Biopsy and histology confirmed the diagnosis of MATS with sebaceous differentiation. He had been diagnosed with metastatic non-small cell lung carcinoma six months back. CLINICAL DISCUSSION AND CONCLUSION: SC is a rare and unusual tumour amounting to less than 1% of all cutaneous malignancies. Phalanges are an infrequent extra-ocular site of involvement, and initial presentation can be mistaken for a benign occurrence. Any patient presenting with extra-ocular SC is advised to undergo genetic and immunohistochemistry testing to rule out complex genetic syndromes like Muir Torre syndrome and Cowden syndrome.

Analysis of Environmental and Pathogenic Bacteria Attached to Aerosol Particles Size-Separated with a Metal Mesh Device

Metal mesh devices (MMDs) are novel materials that enable the precise separation of particles by size. Structurally, MMDs consist of a periodic arrangement of square apertures of characteristic shapes and sizes on a thin nickel membrane. The present study describes the separation of aerosol particles using palm-top-size collection devices equipped with three types of MMDs differing in pore size. Aerosols were collected at a farm located in the suburbs of Nairobi, Kenya;aerosol particles were isolated, and pathogenic bacteria were identified in this microflora by next-generation sequencing analysis. The composition of the microflora in aerosol particles was found to depend on particle size. Gene fragments were obtained from the collected aerosols by PCR using primers specific for the genus Mycobacterium. This analysis showed that Mycobacterium obuense, a non-tuberculous species of mycobacteria that causes lung diseases, was present in these aerosols. These findings showed that application of this MMD analytical protocol to aerosol particles can facilitate the investigation of airborne pathogenic bacteria.