Single cell RNA-sequencing and RNA-tomography of the avian embryo extending body axis.

Vertebrate body axis formation initiates during gastrulation and continues within the tail bud at the posterior end of the embryo. Major structures in the trunk are paired somites, which generate the musculoskeletal system, the spinal cord-forming part of the central nervous system, and the notochord, with important patterning functions. The specification of these different cell lineages by key signalling pathways and transcription factors is essential, however, a global map of cell types and expressed genes in the avian trunk is missing.

Identification of a non-canonical ciliate nuclear genetic code where UAA and UAG code for different amino acids.

The genetic code is one of the most highly conserved features across life. Only a few lineages have deviated from the "universal" genetic code. Amongst the few variants of the genetic code reported to date, the codons UAA and UAG virtually always have the same translation, suggesting that their evolution is coupled.

Chromosome-level genome sequence of the Genetically Improved Farmed Tilapia (GIFT, Oreochromis niloticus) highlights regions of introgression with O. mossambicus.

Background: The Nile tilapia (Oreochromis niloticus) is the third most important freshwater fish for aquaculture. Its success is directly linked to continuous breeding efforts focusing on production traits such as growth rate and weight. Among those elite strains, the Genetically Improved Farmed Tilapia (GIFT) programme initiated by WorldFish is now distributed worldwide.

Computational prediction and experimental validation of Typhimurium SopE-mediated fine-tuning of autophagy in intestinal epithelial cells.

Macroautophagy is a ubiquitous homeostasis and health-promoting recycling process of eukaryotic cells, targeting misfolded proteins, damaged organelles and intracellular infectious agents. Some intracellular pathogens such as serovar Typhimurium hijack this process during pathogenesis. Here we investigate potential protein-protein interactions between host transcription factors and secreted effector proteins of and their effect on host gene transcription.

An accessible, efficient and global approach for the large-scale sequencing of bacterial genomes.

We have developed an efficient and inexpensive pipeline for streamlining large-scale collection and genome sequencing of bacterial isolates. Evaluation of this method involved a worldwide research collaboration focused on the model organism Salmonella enterica, the 10KSG consortium. Following the optimization of a logistics pipeline that involved shipping isolates as thermolysates in ambient conditions, the project assembled a diverse collection of 10,419 isolates from low- and middle-income countries.

Norwich COVID-19 testing initiative pilot: evaluating the feasibility of asymptomatic testing on a university campus.

Background: There is a high prevalence of COVID-19 in university-age students, who are returning to campuses. There is little evidence regarding the feasibility of universal, asymptomatic testing to help control outbreaks in this population. This study aimed to pilot mass COVID-19 testing on a university research park, to assess the feasibility and acceptability of scaling up testing to all staff and students.

Defining Cell Identity with Single-Cell Omics.

Cells are a fundamental unit of life, and the ability to study the phenotypes and behaviors of individual cells is crucial to understanding the workings of complex biological systems. Cell phenotypes (epigenomic, transcriptomic, proteomic, and metabolomic) exhibit dramatic heterogeneity between and within the different cell types and states underlying cellular functional diversity. Cell genotypes can also display heterogeneity throughout an organism, in the form of somatic genetic variation-most notably in the emergence and evolution of tumors.

An improved assembly and annotation of the allohexaploid wheat genome identifies complete families of agronomic genes and provides genomic evidence for chromosomal translocations.

Advances in genome sequencing and assembly technologies are generating many high-quality genome sequences, but assemblies of large, repeat-rich polyploid genomes, such as that of bread wheat, remain fragmented and incomplete. We have generated a new wheat whole-genome shotgun sequence assembly using a combination of optimized data types and an assembly algorithm designed to deal with large and complex genomes. The new assembly represents >78% of the genome with a scaffold N50 of 88.

Voice abnormalities at school age in children born extremely preterm.

Background And Objectives: Voice abnormality is a frequent finding in school age children born at <25 weeks' gestation in Western Australia. The objective of this study was to determine the frequency of voice abnormality, voice-related quality of life, and demographic and intubation factors in this population.

Methods: Survivors <25 weeks' gestational age in Western Australia born from 1996 to 2004 were included.

Drilling speaking valves to promote phonation in tracheostomy-dependent children.

Objectives/hypothesis: Placement of a Passy-Muir speaking valve is considered best practice for infants and children with a tracheostomy. The Passy-Muir valve enables phonation by redirecting exhaled air via the glottis. Poor tolerance of the Passy-Muir valve is associated with excessive transtracheal pressures on exhalation due to upper airway obstruction.

Objective assessment of pediatric voice disorders with the acoustic voice quality index.

Objectives/hypothesis: Instrumental measures of voice allow practitioners to assess the severity of voice disorders and objectively measure treatment outcomes. Instrumental measures should be calculated on both sustained vowel and connected speech samples to ensure ecological validity. However, there is a lack of appropriate, validated acoustic measurements for use in the pediatric population.

Five-year outcome for women randomised in a phase III trial comparing doxorubicin and cyclophosphamide with doxorubicin and docetaxel as primary medical therapy in early breast cancer: an Anglo-Celtic Cooperative Oncology Group study.

To compare the long-term outcome of women with primary or locally advanced breast cancer randomised to receive either doxorubicin and cyclophosphamide (AC) or doxorubicin and docetaxel (AD) as primary chemotherapy. Eligible patients with histologic-proven breast cancer with primary tumours > or = 3 cm, inflammatory or locally advanced disease, and no evidence of distant metastases, were randomised to receive a maximum of 6 cycles of either doxorubicin (60 mg/m(2)) plus cyclophosphamide (600 mg/m(2)) i/v or doxorubicin (50 mg/m(2)) plus docetaxel (75 mg/m(2)) i/v every 3 weeks, followed by surgery on completion of chemotherapy. Clinical and pathologic responses have previously been reported.

High-throughput retrotransposon-based fluorescent markers: improved information content and allele discrimination.

Background: Dense genetic maps, together with the efficiency and accuracy of their construction, are integral to genetic studies and marker assisted selection for plant breeding. High-throughput multiplex markers that are robust and reproducible can contribute to both efficiency and accuracy. Multiplex markers are often dominant and so have low information content, this coupled with the pressure to find alternatives to radio-labelling, has led us to adapt the SSAP (sequence specific amplified polymorphism) marker method from a 33P labelling procedure to fluorescently tagged markers analysed from an automated ABI 3730 xl platform.

Chiropody may prevent amputations in diabetic patients on peritoneal dialysis.

Background: A multidisciplinary approach has been shown to be of benefit in the prevention of lower limb ulceration and amputation in patients with diabetes, but there is less information on the role of such an approach in patients receiving dialysis treatment.

Objective: The purpose of the present study was to determine whether the institution of a chiropody program would result in fewer amputations in diabetic patients on peritoneal dialysis (PD).

Design: Retrospective chart review.

BRCA2 Arg372Hispolymorphism and epithelial ovarian cancer risk.

The BRCA2 372 HH genotype defined by the BRCA2 N372H nonconservative amino acid substitution polymorphism was recently reported to be associated with a small increased risk of breast cancer. We investigated whether this polymorphism was associated with ovarian cancer risk by conducting British and Australian case-control comparisons in parallel, including a total sample of 1,121 ovarian cancer cases and 2,643 controls. There was no difference in genotype frequency between control groups from the 2 studies (p = 0.

Variants in DNA double-strand break repair genes and breast cancer susceptibility.

We performed genetic association studies in a population-based breast cancer case-control study analysing polymorphisms in genes involved in homologous recombination (NBS1, RAD52, RAD51, XRCC2 and XRCC3) and non-homologous end-joining (KU70/80 and LIG4). These DNA double-strand break repair genes are candidates for breast cancer susceptibility. Genotype results were available for up to 2205 cases and 1826 controls.

Controlling cancer pain in primary care: the prescribing habits and knowledge base of general practitioners.

During recent years, the national policy of the United Kingdom has increasingly recognized the central place of general practitioners (GPs) in the care of cancer patients, from screening and early diagnosis through to palliative care and bereavement. There are, however, continuing reports of poor control of pain and other symptoms in the community. To investigate general practitioners' prescribing habits and knowledge of some key pain control issues in advanced cancer, a postal questionnaire surveyed a random sample of 450 East Anglian GPs.

Whither rural health? Reviewing a decade of progress in rural health.

The problems associated with rural and remote health have been widely recognised by health workers, rural communities and health professions for some time. Yet it has only been in the past decade that any concerted effort has been made to address rural health issues. Today the state of health in rural Australia remains less than optimal.

BRCA1 and BRCA2 mutations in a population-based study of male breast cancer.

Background: The contribution of BRCA1 and BRCA2 to the incidence of male breast cancer (MBC) in the United Kingdom is not known, and the importance of these genes in the increased risk of female breast cancer associated with a family history of breast cancer in a male first-degree relative is unclear.

Methods: We have carried out a population-based study of 94 MBC cases collected in the UK. We screened genomic DNA for mutations in BRCA1 and BRCA2 and used family history data from these cases to calculate the risk of breast cancer to female relatives of MBC cases.

Deterioration in renal function associated with fibrate therapy.

Background: Fibric acid derivatives (fibrates) are commonly used for the treatment of hyperlipidemia. A side-effect of these medications that is not well recognized is deterioration in renal function during therapy. This study reviewed a series of patients who showed such a deterioration.

Bright stars in the sky?

Actions to improve the health of people in rural and remote areas are supported by people's ability as individuals and as a community to take part actively in the design, management and evaluation of their own health services. To do this successfully, people need information about their health, resources to support their actions and political support or legitimacy. This article focuses on the third requirement.

Familial predisposition to breast cancer in a British population: implications for prevention.

The aims of this study were to estimate the familial relative risk of breast cancer according to the age of the at risk individual and the age at which the relative was affected, and to estimate the proportion of the general population in several breast cancer risk categories because of a family history and, thus estimate the potential to reduce the overall breast cancer burden using interventions targeted at women at increased risk because of family history. Familial relative risks were computed by comparing breast cancer incidence in relatives of 2809 breast cancer cases from a population based case series with that expected from general population incidence rates. The proportion of the general population in different categories of risk according to family history was estimated from the relative risk of breast cancer for that category and the proportion of cases in that category.

No association between a polymorphism in the steroid metabolism gene CYP17 and risk of breast cancer.

A recent study showed an association between a single base substitution, T-->C, in the promotor region of the CYP17 gene, the risk of breast cancer and age at menarche in Asian, African-American and Latino women from California and Hawaii. The C allele was associated with increased risk of breast cancer, significantly so for patients presenting with advanced disease, whereas the TT genotype was associated with later age at menarche in control subjects. We attempted to confirm these findings in a large case-control study in East Anglia, England (835 cases and 591 control subjects).