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Hereditary factor VII deficiency (FVIID) is a rare congenital autosomal recessive bleeding disorder. In clinical manifestations, its onset is caused by variant of the F7 gene (NM_019616) with strong heterogeneity. We identified a family with hematuria caused by a novel F7 compound heterozygous variant and investigated the FVIID-dependent mechanism impacted by these variants.
Coagulation factors in the proband were functionally verified. We located pathogenic variants in relevant genes using next-generation sequencing after target enrichment and verified them by Sanger sequencing. We examined the coagulation activity and secretion pattern of recombinant FVII variants expressed in cells and observed their location and stability by immunofluorescence.
We found a missense variant c.1207G>A (p.Gly403Ser) and a frameshift variant c.154_155del (p.Arg53fs) in the F7 gene of the proband. FVII activity tests showed that the variants significantly decreased its presence in the cell culture supernatant. Moreover, the R53fs mutant lacked the FVII functional domain and had no detectable activity. Immunofluorescence indicated that the p.Gly403Ser variant was distributed to the cell membrane and cytoplasm, whereas the FVII R53fs variant was not detected. Deficient FVII protein function and severe coagulation disorder are the likely causes of hematuria and other bleeding symptoms in the proband.
The newly discovered F7 gene variants enrich the spectrum of hereditary FVII deficiency and provide a new foundation for the diagnosis and treatment of this type of coagulation disorder.
The newly discovered F7 gene variants enrich the spectrum of hereditary FVII deficiency and provide a new foundation for the diagnosis and treatment of this type of coagulation disorder.Drought is a common abiotic stress for terrestrial plants and often affects crop development and yield. see more Recent studies have suggested that lignin plays a crucial role in plant drought tolerance; however, the underlying molecular mechanisms are still largely unknown. Here, we report that the rice (Oryza sativa) gene CINNAMOYL-CoA REDUCTASE 10 (OsCCR10) is directly activated by the OsNAC5 transcription factor, which mediates drought tolerance through regulating lignin accumulation. CCR is the first committed enzyme in the monolignol synthesis pathway, and the expression of 26 CCR genes was observed to be induced in rice roots under drought. Subcellular localisation assays revealed that OsCCR10 is a catalytically active enzyme that is localised in the cytoplasm. The OsCCR10 transcript levels were found to increase in response to abiotic stresses, such as drought, high salinity, and abscisic acid (ABA), and transcripts were detected in roots at all developmental stages. In vitro enzyme activity and in vivo lignin composition assay suggested that OsCCR10 is involved in H- and G-lignin biosynthesis. Transgenic rice plants overexpressing OsCCR10 showed improved drought tolerance at the vegetative stages of growth, as well as higher photosynthetic efficiency, lower water loss rates, and higher lignin content in roots compared to non-transgenic (NT) controls. In contrast, CRISPR/Cas9-mediated OsCCR10 knock-out mutants exhibited reduced lignin accumulation in roots and less drought tolerance. Notably, transgenic rice plants with root-preferential overexpression of OsCCR10 exhibited higher grain yield than NT controls plants under field drought conditions, indicating that lignin biosynthesis mediated by OsCCR10 contributes to drought tolerance.
To review the literature on family caregivers' experiences of providing care for a family member from an ethnic minority group living with dementia within the European context.
Due to labour migration during the late 1960s and early 1970s, many European countries are now encountering an increasing number of older people from diverse ethnic minority groups who have been diagnosed with dementia. Although family care is predominantly used as a care pathway among families with immigrant backgrounds, little is known about family caregivers' experiences of providing care for a family member with dementia.
A systematic review of qualitative literature.
Eight databases (CINAHL, EMBASE, MEDLINE, PsychINFO, SCOPUS, Social Care Online, SocIndex and Epistemonikos) were searched for original, peer-reviewed papers, published in English between 2010 and 2021. The literature review was conducted and reported in accordance with PRISMA 2020 checklist for reporting systematic reviews.
After identifying, screening and healthcare and social services in relation to implementing models of care that facilitate and complement family caregivers' role in caring for family members living with dementia from minority ethnic groups.
Information on unrecorded alcohol consumption in Southeast Asia and Thailand is lacking. The primary objective of this study was to estimate the prevalence of unrecorded alcohol (including illegally produced alcohol and untaxed cross-border alcohol) consumption among past-year drinkers in Thailand. The secondary objectives were to examine the geographical variation of unrecorded alcohol consumption, effects of socioeconomic factors on unrecorded alcohol consumption and the association between unrecorded alcohol consumption and alcohol-related consequences.
This study analysed data from the 2017 Smoking and Drinking Behavior Survey. The prevalence of unrecorded alcohol consumption was estimated. Associations of interest were tested using multivariate logistic regression.
Overall, 12.3% of past-year drinkers consumed any unrecorded alcohol. The prevalence was highest in the north (24.8%) and lowest in the central region (7.4%). In multivariate analysis, living in the north was associated with consumption rs and each type of unrecorded alcohol.
Treatment of patients with Haemophilia A has improved significantly in recent years since the advent of novel therapeutic agents such as emicizumab. The low annualised bleeding rates associated with emicizumab have liberated many patients from the need for central venous access devices (CVAD). Optimal peri-operative management of CVAD removal is not currently known and there are no specific formal recommendations available.
We reviewed outcomes in a paediatric cohort in our centre undergoing CVAD removal without pre-operative factor or bypassing agent and reviewed the literature regarding port removal in patients on Emicizumab.
Ten male patients with severe Haemophilia A underwent CVAD removal without planned administration of factor concentrate or bypassing agent. Patients were monitored in hospital for 24h with routine laboratory testing pre- and post-operatively.
No significant bleeding episodes occurred in any patient, no patient required factor concentrate or bypassing agent and no patients were readmitted due to bleeding within 7 days of surgery.
We propose that, in the era of emicizumab, prophylactic factor administration pre-operatively for elective CVAD removal is not required in the majority of cases.
We propose that, in the era of emicizumab, prophylactic factor administration pre-operatively for elective CVAD removal is not required in the majority of cases.
Individuals with Down syndrome (DS) are at high risk for dementia, specifically Alzheimer's disease. However, many measures regularly used for the detection of dementia in the general population are not suitable for individuals with DS due in part to floor effects. Some measures, including the Severe Impairment Battery (SIB), Brief Praxis Test (BPT) and Dementia Scale for People with Learning Disabilities (DLD), have been used in clinical trials and other research with this population. Validity research is limited, particularly regarding the use of such tools for detection of prodromal dementia in the DS population. The current project presents baseline cross-sectional SIB, BPT and DLD performance in order to characterise their predictive utility in discriminating normal cognition, possible dementia and probable dementia in adult DS.
Baseline SIB, BPT and DLD performances from 100 individuals (no dementia=68, possible dementia=16 & probable dementia=16) were examined from a longitudinal cohort of aginwith DS.
To explore nurses' perceptions on caring for children and adolescents who are victims of domestic violence, medical treatment of a victim of domestic violence and social aspects of recognizing this problem.
Nurses are often first to recognize family violence; thus, they must have appropriate knowledge, skills and experience. Caring for child victims of domestic violence can be very stressful and emotional and nurses must have support when caring for them.
A qualitative study was conducted between June and August 2020. Interviews were conducted with paediatric nurses in a university hospital in Slovenia. Interviews were transcribed, coded and synthesized.
We identified four main categories violence against children; nurses' perception of caring for a child victim of domestic violence; medical treatment of a child who is a victim of domestic violence; the social aspect of recognizing violence against a child.
Domestic violence is present regardless of country, language and nationality. Early interventions should be directed towards recognition of the signs of domestic violence and care for victims of violence and caregivers.
It is the responsibility of healthcare systems, hospital managers and nurses themselves to provide nursing care for children and adolescent victims of domestic violence based on the newest and best evidence.
It is the responsibility of healthcare systems, hospital managers and nurses themselves to provide nursing care for children and adolescent victims of domestic violence based on the newest and best evidence.The various contributions to the external quantum efficiency (EQE) of polymer light-emitting diodes (PLEDs) are discussed. The EQE of an organic light-emitting diode is governed by a number of parameters, such as the electrical efficiency, the photoluminescence quantum yield (PLQY), the optical outcoupling efficiency and the spin statistics for singlet exciton generation. In the last decade, the electrical efficiency has been determined from a numerical PLED device model. More recently, an optical model to simulate the fraction of photons outcoupled to air for PLEDs with a broad recombination zone has been developed. Together with the directly measured PLQY, the EQE of a PLED can then be estimated. However, it has been observed that the measured EQEs of fluorescent PLEDs, including the model system super-yellow poly(p-phenylene vinylene) (SY-PPV) often exceed the expected values. To solve this discrepancy, it is demonstrate that the electrical PLED model has to be expanded by the inclusion of triplet-triplet annihilation (TTA), which is shown to be responsible for a substantial EQE enhancement. Experimentally, it is obtained that TTA contributes to a singlet-exciton generation efficiency of ≈40% in SY-PPV PLEDs, giving rise to an EQE of ≈4% instead of the expected value of 2.5%.
To investigate the relationship between illness uncertainty, self-perceived burden and quality of life and explore the mediating role of self-perceived burden between illness uncertainty and quality of life in patients with chronic myeloid leukaemia.
Patients with chronic myeloid leukaemia need long-term, potentially lifelong therapy to control the disease, which affects their quality of life. There is a need for exploring potentially changeable factors to develop interventions. Little is known about the effects of illness uncertainty and self-perceived burden on quality of life in this population.
A cross-sectional study.
A convenience sample of 248 patients with chronic myeloid leukaemia was recruited from four university hospitals from February to August 2020. Participants were assessed with the Mishel Uncertainty in Illness Scale, Self-Perceived Burden Scale, and European Organization for Research and Treatment of Cancer Quality of Life Questionnaire. The STROBE checklist was used to report the results.
Website: https://www.selleckchem.com/products/brefeldin-a.html
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