A case of an Angelman-syndrome caused by an intragenic duplication of UBE3A uncovered by adaptive nanopore sequencing.

Adaptive nanopore sequencing as a diagnostic method for imprinting disorders and episignature analysis revealed an intragenic duplication of Exon 6 and 7 in UBE3A (NM_000462.5) in a patient with relatively mild Angelman-like syndrome. In an all-in-one nanopore sequencing analysis DNA hypomethylation of the SNURF:TSS-DMR, known contributing deletions on the maternal allele and point mutations in UBE3A could be ruled out as disease drivers.

A QALY is [still] a QALY is [still] a QALY? : Evaluating proportional shortfall as the answer to the problem of equity in healthcare allocations.

Despite clinical evidence of drug superiority, therapeutic modalities, like combination immunotherapy, are mostly considered cost-ineffective due to their high costs per life year(s) gained. This paper, taking an ethical stand, reevaluates the standard cost-effectiveness analysis with that of the more recent justice-enhanced methods and concludes by pointing out the shortcomings of the current methodologies.

Parental perceptions of informed consent in a study of tracheal intubations in neonatal intensive care.

Background And Objective: Obtaining informed consent in neonatal emergency research is challenging. The aim of this study was to assess parental perceptions of informed consent following participation in a clinical trial in neonatal emergency care.

Methods: This was a supplementary analysis of a randomised controlled trial comparing video and direct laryngoscopy for neonatal endotracheal intubation in the delivery room and neonatal intensive care unit.

Lessons from COVID-19 to increase opioid vaccine acceptance.

COVID-19 has put vaccine efficacy under a spotlight. However, the reluctance of people to be vaccinated has postponed the end of the COVID-19 pandemic. Currently, opioid vaccines are being developed, which could help prevent opioid addiction, overdoses, or relapse in combination with medication-assisted therapy.

Cases Abusing Brain Death Definition in Organ Procurement in China.

Organ donation after brain death has been practiced in China since 2003 in the absence of brain death legislation. Similar to international standards, China's brain death diagnostic criteria include coma, absence of brainstem reflexes, and the lack of spontaneous respiration. The Chinese criteria require that the lack of spontaneous respiration must be verified with an apnea test by disconnecting the ventilator for 8 min to provoke spontaneous respiration.

Can eastern wisdom resolve western epidemics? Traditional Chinese medicine therapies and the opioid crisis.

The widespread use of opioids to treat chronic pain led to a nation-wide crisis in the United States. Tens of thousands of deaths annually occur mainly due to respiratory depression, the most dangerous side effect of opioids. Non-opioid drugs and non-pharmacological treatments without addictive potential are urgently required.

Communication and ethical considerations for fertility preservation for patients with childhood, adolescent, and young adult cancer: recommendations from the PanCareLIFE Consortium and the International Late Effects of Childhood Cancer Guideline Harmonization Group.

Patients with childhood, adolescent, and young adult cancer who will be treated with gonadotoxic therapies are at increased risk for infertility. Many patients and their families desire biological children but effective communication about treatment-related infertility risk and procedures for fertility preservation does not always happen. The PanCareLIFE Consortium and the International Late Effects of Childhood Cancer Guideline Harmonization Group reviewed the literature and developed a clinical practice guideline that provides recommendations for ongoing communication methods for fertility preservation for patients who were diagnosed with childhood, adolescent, and young adult cancer at age 25 years or younger and their families.

Health(care) in the Crisis: Reflections in Science and Society on Opioid Addiction.

Opioid abuse and misuse have led to an epidemic which is currently spreading worldwide. Since the number of opioid overdoses is still increasing, it is becoming obvious that current rather unsystematic approaches to tackle this health problem are not effective. This review suggests that fighting the opioid epidemic requires a structured public health approach.

[Studies on novel immune therapies: challenges from an ethical point of view].

Novel immune therapies are more and more based on the molecular differentiation of disease patterns and related clinical studies are thus more often characterized by so-called adaptive study designs (umbrella or basket studies including platform studies), which are continuously adjusted based on novel results. This paper analyses new study designs beyond the often-postulated need for regulation in order to identify ethical problems based on typical structural features and to - whenever possible - suggest solutions. Additionally to the relationship between social and scientific values of a study as well as aspects of the scientific validity of new forms of evidence, the inclusion of study subjects under the condition of relative uncertainty, specific challenges in the process of ethical approval, as well as ethical and practical challenges in the process of informing patients and receiving informed consent will be addressed.

Resilience beyond reductionism: ethical and social dimensions of an emerging concept in the neurosciences.

Since a number of years, popular and scientific interest in resilience is rapidly increasing. More recently, also neuroscientific research in resilience and the associated neurobiological findings is gaining more attention. Some of these neuroscientific findings might open up new measures to foster personal resilience, ranging from magnetic stimulation to pharmaceutical interventions and awareness-based techniques.

Bisphenolic compounds alter gene expression in MCF-7 cells through interaction with estrogen receptor α.

Plasticizers released from microplastic are increasingly viewed with concern. While adverse health effects induced by bisphenol A and its analogues on marine animals are well documented in the literature, the endocrine potential of bisphenolic compounds on human health remains elusive. We applied next generation sequencing (NGS) with the estrogen receptor α (ERα) positive human breast cancer cell line MCF-7 treated with 17-β-estradiol (E2), bisphenol A (BPA), bisphenol B (BPB), bisphenol Z (BPZ) and tetramethyl bisphenol A (4MeBPA).

Effect of Neonatal Outcome Estimates on Decision-Making Preferences of Mothers Facing Preterm Birth: A Randomized Clinical Trial.

This randomized clinical trial examines the effect of neonatal outcomes on the preferences for expectant German mothers for life-sustaining treatments.

Indeno[1,2,3-cd]pyrene and picene mediate actions via estrogen receptor α signaling pathway in in vitro cell systems, altering gene expression.

Currently, the environmental impact of ubiquitous plastic debris triggered quite some public attention. However, the global impact of microplastic on human health is by and large either unknown or neglected. By looking at the underlying biochemical mechanisms leading to the global health threat microplastic was discovered to carry persistent organic pollutants, such as polycyclic aromatic hydrocarbons (PAH), to marine life.

Organophosphate ester tri-o-cresyl phosphate interacts with estrogen receptor α in MCF-7 breast cancer cells promoting cancer growth.

Plastic in the ocean degrades to microplastic, thereby enhancing the leaching of incorporated plasticizers due to the increased particle surface. The uptake of microplastic-derived plasticizers by marine animals and the subsequent entry in the food chain raises concerns for adverse health effects in human beings. Frequently used plasticizers as the organophosphate ester tri-o-cresyl phosphate (TOCP) are known to affect the male reproductive system.

Biopiracy versus One-World Medicine-From colonial relicts to global collaborative concepts.

Background: Practices of biopiracy to use genetic resources and indigenous knowledge by Western companies without benefit-sharing of those, who generated the traditional knowledge, can be understood as form of neocolonialism.

Hypothesis: The One-World Medicine concept attempts to merge the best of traditional medicine from developing countries and conventional Western medicine for the sake of patients around the globe.

Study Design: Based on literature searches in several databases, a concept paper has been written.

Determination of Death in Execution by Lethal Injection in China.

Since 1997, execution in China has been increasingly performed by lethal injection. The current criteria for determination of death for execution by lethal injection (cessation of heartbeat, cessation of respiration, and dilated pupils) neither conform to current medical science nor to any standard of medical ethics. In practice, death is pronounced in China within tens of seconds after starting the lethal injection.

The Chinese herbal formula Free and Easy Wanderer ameliorates oxidative stress through KEAP1-NRF2/HO-1 pathway.

Posttraumatic stress disorder (PTSD) gains a lot of attention due to high prevalence and strong psychological upset, but the etiology remains undefined and effective treatment is quite limited. Growing studies demonstrated the involvement of oxidative stress in various psychiatry diseases, suggesting anti-oxidation therapy might be a strategy for PTSD treatment. Free and Easy Wanderer (FAEW) is a poly-herbal drug clinically used in China for hundreds of years in the treatment of psychiatric disorder.

Human rights violations in organ procurement practice in China.

Background: Over 90% of the organs transplanted in China before 2010 were procured from prisoners. Although Chinese officials announced in December 2014 that the country would completely cease using organs harvested from prisoners, no regulatory adjustments or changes in China's organ donation laws followed. As a result, the use of prisoner organs remains legal in China if consent is obtained.

Broken heart, tako-tsubo or stress cardiomyopathy? Metaphors, meanings and their medical impact.

The cardiac impact of psychological stress historically and socially understood as boundary experiences of human life has long since become an icon. From the aching heart to the sudden death provoked by awe, horror, grief, anger, and humiliation on one side and extreme enchantment, enthusiasm, and excitement on the other, the broken heart has become a globally recognized and powerful metaphor present from folklore to popular culture to high literature and back to everyday communication. In medicine, the "broken heart syndrome" is described as a relatively new nosological entity that has been used synonymously with the term tako-tsubo or stress cardiomyopathy.

What If the Prenatal Diagnosis of a Lethal Anomaly Turns Out to Be Wrong?

Advances in prenatal diagnosis create a unique set of clinical ethics dilemmas. Doctors routinely obtain genetic screening, radiologic images, and biophysical profiling. These allow more accurate diagnosis and prognosis than has ever before been possible.