The presence of familial translocations was a common finding, thus emphasizing the need for familiar testing for further genetic counselling.

To our knowledge, this is the first case in which a translocation (2;12) is reported in a patient with Turner syndrome and confirmed by conventional cytogenetics, FISH and molecular genetics. Clinical features of our patient are closely related with the loss of one X chromosome, however mild intellectual disability can be likely explained by autosomal genes. The presence of familial translocations was a common finding, thus emphasizing the need for familiar testing for further genetic counselling.

The presence of nuclear mitochondrial DNA (numtDNA) has been reported within several nuclear genomes. Next to mitochondrial protein-coding genes, numtDNA sequences also encode for mitochondrial tRNA genes. However, the biological roles of numtDNA remain elusive.

Employing in silico analysis, we identify 281 mitochondrial tRNA homologs in the human genome, which we term nimtRNAs (nuclear intronic mitochondrial-derived tRNAs), being contained within introns of 76 nuclear host genes. Despite base changes in nimtRNAs when compared to their mtRNA homologs, a canonical tRNA cloverleaf structure is maintained. To address potential functions of intronic nimtRNAs, we insert them into introns of constitutive and alternative splicing reporters and demonstrate that nimtRNAs promote pre-mRNA splicing, dependent on the number and positioning of nimtRNA genes and splice site recognition efficiency. A mutational analysis reveals that the nimtRNA cloverleaf structure is required for the observed splicing increase. Forskolin mw Utilizing a CRISPR/Cas9 approach, we show that a partial deletion of a single endogenous nimtRNA

within intron 28 of the PPFIBP1 gene decreases inclusion of the downstream-located exon 29 of the PPFIBP1 mRNA. By employing a pull-down approach followed by mass spectrometry, a 3′-splice site-associated protein network is identified, including KHDRBS1, which we show directly interacts with nimtRNA

by an electrophoretic mobility shift assay.

We propose that nimtRNAs, along with associated protein factors, can act as a novel class of intronic splicing regulatory elements in the human genome by participating in the regulation of splicing.

We propose that nimtRNAs, along with associated protein factors, can act as a novel class of intronic splicing regulatory elements in the human genome by participating in the regulation of splicing.

COVID-19 has caused a global pandemic, and there is no wonder drug for epidemic control at present. However, many clinical practices have shown that traditional Chinese medicine has played an important role in treating the outbreak. Among them, ephedra-bitter almond is a common couplet medicine in anti-COVID-19 prescriptions. This study aims to conduct an exploration of key components and mechanisms of ephedra-bitter almond anti-COVID-19 based on network pharmacology.

We collected and screened potential active components of ephedra-bitter almond based on the TCMSP Database, and we predicted targets of the components. Meanwhile, we collected relevant targets of COVID-19 through the GeneCards and CTD databases. Then, the potential targets of ephedra-bitter almond against COVID-19 were screened out. The key components, targets, biological processes, and pathways of ephedra-bitter almond anti-COVID-19 were predicted by constructing the relationship network of herb-component-target (H-C-T), protein-protein intining, and the findings need to be interpreted with caution.

Humanitarian non-governmental organizations provide assistance to communities affected by war, disaster and epidemic. A primary focus of healthcare provision by these organizations is saving lives; however, curative care will not be sufficient, appropriate, or available for some patients. In these instances, palliative care approaches to ease suffering and promote dignity are needed. Though several recent initiatives have increased the probability of palliative care being included in humanitarian healthcare response, palliative care remains minimally integrated in humanitarian health projects.

We conducted a qualitative study using interpretive description methodology to investigate humanitarian policy-makers’ and healthcare professionals’ experiences and perceptions of palliative care during humanitarian crises. In this article, we report on the analysis of in-depth interviews with 24 participants related to their perceptions of obstacles to providing palliative care in humanitarian crises, and opportunijured during a humanitarian crises, including persons who are dying or likely to die.

Opportunities exist for overcoming the obstacles to providing palliative care in humanitarian crises. Doing so is necessary to ensure that humanitarian healthcare can fulfill its objectives not only of saving lives, but also of alleviating suffering and promoting dignity of individuals who are ill or injured during a humanitarian crises, including persons who are dying or likely to die.

Based on previous experience there is justifiable concern about suicidal behaviour and news media reporting of it during COVID-19 pandemic.

This study used a systematic search of online news media reports (versions of newspapers, magazine and other digital publications) of suicidal behaviour during India’s COVID-19 lockdown and compared it to corresponding dates in 2019. Data was gathered using a uniform search strategy from 56 online news media publications 24 March to 3 May for the years 2019 and 2020 using keywords, suicide, attempted suicide, hangs self and kills self. Demographic variables and methods used for suicide were compared for suicide and attempts between the 2years using chi-squared tests (χ

).

There were online news media reports of 369 cases of suicides and attempted suicides during COVID lockdown vs 220 reports in 2019, a 67.7% increase in online news media reports of suicidal behaviour. Compared to 2019, suicides reported during lockdown were significantly older (30 vs 50years, p &ltin demographic profile and methods used only to changes in journalists’ reporting behaviour and should be further explored. We therefore call upon the Government of India to urgently release national suicide data to help devise a comprehensive suicide prevention strategy to address COVID-19 suicidal behaviour.

Increase in online news media reports of suicides and attempts during COVID-19 lockdown may indicate an increase in journalists’ awareness about suicide or more sensational media reporting or may be a proxy indicator of a real community increase in suicidal behaviour. It is difficult to attribute changes in demographic profile and methods used only to changes in journalists’ reporting behaviour and should be further explored. We therefore call upon the Government of India to urgently release national suicide data to help devise a comprehensive suicide prevention strategy to address COVID-19 suicidal behaviour.