Effect of subdivision of the Lacaune dairy sheep breed on the accuracy of genomic prediction.

Genomic selection was deployed in Lacaune dairy breed in 2015. Lacaune population split in 1972 into 2 breeding companies with associated flocks, and there have been very few exchanges of animals between the subpopulations, leading to divergence of the 2 subpopulations. In spite of that, there is a joint genomic prediction. The objective of this study is to understand how this structuring affects prediction accuracy. We analyzed all the data available from Lacaune breeding program for milk yield: around 6 million phenotypes, 2 million animals in the pedigree and more than 29,000 genotyped animals, including 3,434 and 2,868 AI rams for each company. To consider missing pedigree, we set up genetic groups using the theory of metafounders. First, we studied the pedigree and genomic structures of the 2 subpopulations calculating Fst, evolution of average pedigree relationships across time and principal components analysis of genomic relationships. In a second part, we compared the reliability between different scenarios: an evaluation with a single reference population (Alone), an evaluation with a joint reference population (Together) and an evaluation of one subpopulation based on the reference population of the other group (Indirect). The low Fst value (0.02) reveals that the 2 subpopulations are still genetically close. Nevertheless, a low and constant average relationship between the animals of the 2 subpopulations confirms the absence of recent connections between them. We can see with principal component analysis results that even if they are close, they diverge over time. Finally, we observe small gains in accuracy of Together versus Alone, in spite of whereas doubling the reference population size in Together. These gains vary across years and subpopulations: less than 0.08 (0.46 to 0.54; ratio of accuracy for the partial and whole evaluations-corresponding to the greatest change in this ratio for breeding company 1, observed for the cohort 2016) for one subpopulation and between 0.03 (0.55 to 0.58) and 0.17 (0.48 to 0.65) for the other. To conclude, the 2 subpopulations remain close enough genetically so that their combined evaluation is advantageous, even if only slightly.

Matching Clostridioides difficile strains obtained from shoe soles of healthcare workers epidemiologically linked to patients and confirmed by whole-genome sequencing.

BACKGROUND: The source of transmission of Clostridioides difficile in healthcare institutions is frequently unknown. The aim of this prospective cohort study was to assess the association between strains cultured from patients and shoe soles of healthcare workers (HCWs), as already shown in the operating theatre, but not on general hospital wards in an acute-care institution. METHODS: We conducted a study at a university tertiary care centre in Switzerland. From October 2019 to July 2020, shoe soles of HCWs were cultured for C. difficile twice per shift while taking care of a patient infected with toxigenic C. difficile. Additional risk factors were assessed by interviewing involved HCWs. Patients' faecal samples were processed by routine microbiological methods. Similarity of the HCWs' and patients' strains was determined by whole-genome sequencing (WGS). RESULTS: A total of 103 HCWs exposed to 42 hospitalized patients participated in the study, providing 206 samples. Contamination of shoe soles with C. difficile was detected in 37 samples (17.8%) of HCWs taking care of patients infected with C. difficile. Overall, transmission was suspected by epidemiological link and matching strains demonstrated by WGS in 74%. CONCLUSIONS: HCWs' shoe soles were positive in 17.8% with C. difficile strains linked epidemiologically and confirmed by WGS to infected patients suggesting potential transmission by HCWs' shoe soles. This pilot study provides sufficient evidence to further evaluate this potential mode of healthcare-associated transmission of C. difficile by a larger clinical trial.

Developing research priorities for palliative care of people with intellectual disabilities in Europe: a consultation process using nominal group technique.

BACKGROUND: Empirical knowledge around palliative care provision and needs of people with intellectual disabilities is extremely limited, as is the availability of research resources, including expertise and funding. This paper describes a consultation process that sought to develop an agenda for research priorities for palliative care of people with intellectual disabilities in Europe. METHODS: A two-day workshop was convened, attended by 16 academics and clinicians in the field of palliative care and intellectual disability from six European countries. The first day consisted of round-table presentations and discussions about the current state of the art, research challenges and knowledge gaps. The second day was focused on developing consensus research priorities with 12 of the workshop participants using nominal group technique, a structured method which involved generating a list of research priorities and ranking them in order of importance. RESULTS: A total of 40 research priorities were proposed and collapsed into eleven research themes. The four most important research themes were: investigating issues around end of life decision making; mapping the scale and scope of the issue; investigating the quality of palliative care for people with intellectual disabilities, including the challenges in achieving best practice; and developing outcome measures and instruments for palliative care of people with intellectual disabilities. CONCLUSIONS: The proposal of four major priority areas and a range of minor themes for future research in intellectual disability, death, dying and palliative care will help researchers to focus limited resources and research expertise on areas where it is most needed and support the building of collaborations. The next steps are to cross-validate these research priorities with people with intellectual disabilities, carers, clinicians, researchers and other stakeholders across Europe; to validate them with local and national policy makers to determine how they could best be incorporated in policy and programmes; and to translate them into actual research studies by setting up European collaborations for specific studies that require such collaboration, develop research proposals and attract research funding.

Curación de mucormicosis rinocerebral en un paciente pediátrico con leucemia activa / Rhinocerebral mucormycosis healing in a pediatric patient with active leukemia

Un paciente de 14 años, portador de leucemia linfoblástica aguda desarrolló una sinusitis subaguda con manifestaciones neurológicas. Mediante biopsia de mucosa nasal y resonancia magnética cerebral se diagnosticó una mucormicosis rinocerebral y basado en un teórico mal pronóstico se decidió efectuar tratamiento conservador: cirugía funcional de la sinusitis y terapia prolongada con anfotericina B deoxicolato completando tras 8,8 meses, 7.700 mg del fármaco. La quimioterapia de la leucemia fue reanudada durante el tratamiento antifúngico alcanzando la remisión oncológica. Tras 31 meses de seguimiento, el paciente está asintomático pero recayó de la leucemia.

[Tetanic equivalents, cephalgia, absences]. / Tetanische Aquivalente, Cephalaea, Absenzen.

Real hypoparathyroidism may develop after surgery of the thyroid, more rarely of the parathyroid. The idiopathic form is thought to be connected with autoimmune processes. We present the case of a female patient with acquired hypoparathyroidism after strumectomy 40 years ago. A clinical picture, not only with neurologic and dermatologic manifestations but also late organic sequelae of chronic hypocalcemia, i.e. calcification of basal ganglia, had developed impressively. Without the proof of laboratory tests diagnosis is difficult to establish at the first go in medical practice, since clinical symptoms may be few or widely scattered. Since the rate of strumectomies has dropped as a consequence of restricted indications, acquired hypoparathyroidism has become rarer. A simple long-term treatment with vitamin D and calcium relieves the patient from tetanic problems and prevents severe and irreversible late organic lesions.