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Schistosoma reflexum (SR) is a lethal congenital syndrome characterized by U-shaped dorsal retroflexion of the spine and exposure of abdominal viscera. SR is usually associated with severe dystocia. The syndrome is thought to be inherited as a Mendelian trait. We collected a series of 23 SR-affected calves from four breeds (20 Holstein, one Red Danish, one Limousin, one Romagnola) and performed whole-genome sequencing (WGS). WGS was performed on 51 cattle, including 14 cases with parents (trio-based; Group 1) and nine single cases (solo-based; Group 2). Sequencing-based genome-wide association studies with 20 Holstein cases and 154 controls showed no association (above Bonferroni threshold; P-value<3 ×10-09). Assuming a monogenic recessive inheritance, no region of shared homozygosity was observed, suggesting heterogeneity. Alternatively, the presence of possible dominant acting de novo mutations were assessed. In Group 1, heterozygous private variants, absent in both parents, were found in seven cases. These involved the ACTL6A, FLNA, GLG1, IQSEC2, MAST3, MBTPS2, and MLLT1 genes. In addition, heterozygous private variants affecting the genes DYNC1LI1, PPP2R2B, SCAF8, SUGP1, and UBP1 were identified in five cases from Group 2. The detected frameshift and missense variants are predicted to cause haploinsufficiency. Each of these 12 affected genes belong to the class of haploinsufficient loss-of-function genes or are involved in embryonic and pre-weaning lethality or are known to be associated with severe malformation syndromes in humans and/or mice. This study presents for the first time a detailed genomic evaluation of bovine SR, suggesting that independent de novo mutations may explain the sporadic occurrence of SR in cattle.

Background The hospital discharge process of older adults in need of both medical and social care post hospitalisation requires extensive care coordination. Cooperation and continuity between involved care providers are essential, however, existing care systems including the Nordic care systems, are poorly designed to provide health and social care to patients with complex health and social care needs which increases the risk of certain groups not receiving optimal care. Aim and methods This study aims to examine and compare what roles, responsibility and actions nurses take in the hospital discharge process of older adults with complex care needs in three Nordic cities: Copenhagen (Denmark), Stockholm (Sweden) and Tampere (Finland). A vignette study consisting of three fictive cases was conducted face-to-face with nurses in Copenhagen (n = 11), Stockholm (n = 16) and Tampere (n = 8). Participants were identified through the researchers’ networks and snowball sampling. The vignettes represent older patients with age-related medical conditions of which one also has cognitive loss and one looks after their partner with dementia. The cases further include differences in the home help received by their children, physical obstacles in their homes and unwillingness of becoming a burden to the system. A thematic approach is used for the data analysis. Results and conclusions Preliminary results suggest that the informants’ roles and engagement in the coordination and collaboration may differ both within and between the systems studied, and that they take responsibility beyond their job roles particularly if the patient has no close relatives. The study is of public health importance as it identifies gaps in how the care is organised in the three welfare states targeted. It also sheds light on the complexities of providing universal care in ageing societies where a growing proportion of older adults have both medical and social care needs.

Hospital discharge of older people in need of both medical and social care following their hospital stay requires extensive coordination. This study aims to examine and compare the views of nurses in three Nordic cities on the influence of sociodemographic factors and having close relatives, for the hospital discharge and post hospital care of older people with complex health and social care needs. Thirty-five semi-structured interviews (Copenhagen n = 11, Tampere n = 8, Stockholm n = 16) with nurses were conducted. The nurses were identified through the researchers' networks, invitation and snowball sampling, and recruited from hospitals, primary care practices, home care units, home nursing units, and geriatric departments. The interviews were transcribed and analysed using thematic analysis. Interpretations were discussed and agreed within the team. Four main themes and 13 sub-themes were identified. Across the cities, informants reported that the patient's health status, rather than their gender or ethnicity, steered the discharge date and further care. Care costs, commonly reported in Tampere but also in Copenhagen and Stockholm including costs for medications and home help, were considered barriers for disadvantaged older people. Home situation, local arrangements and differences in collaboration between healthcare professionals at different sites also influenced the hospital discharge. Generally, the patient's health status steered the hospital discharge and post-hospital care. Close relatives were regarded important and a potential advantage. Some informants tried to compensate for the absence of close relatives, highlighting the importance of care systems that can compensate for this to minimise avoidable inequity.

The pulmonary hypoplasia and anasarca syndrome (PHA) is a congenital lethal disorder, which until now has been reported in cattle and sheep. PHA is characterized by extensive subcutaneous fetal edema combined with hypoplasia or aplasia of the lungs and dysplasia of the lymphatic system. PHA is assumed to be of genetic etiology. This study presents the occurrence of PHA in two different cattle breeds and their genetic causation. Two PHA cases from one sire were observed in Slovenian Cika cattle. Under the assumption of monogenic inheritance, genome-wide homozygosity mapping scaled down the critical regions to 3% of the bovine genome including a 43.6 Mb-sized segment on chromosome 6. Whole-genome sequencing of one case, variant filtering against controls and genotyping of a larger cohort of Cika cattle led to the detection of a likely pathogenic protein-changing variant perfectly associated with the disease: a missense variant on chromosome 6 in ADAMTS3 (NM_001192797.1: c.1222C>T), which affects an evolutionary conserved residue (NP_001179726.1: p.(His408Tyr)). A single PHA case was found in Danish Holstein cattle and was whole-genome sequenced along with its parents. However, as there was no plausible private protein-changing variant, mining for structural variation revealed a likely pathogenic trisomy of the entire chromosome 20. The identified ADAMTS3 associated missense variant and the trisomy 20 are two different genetic causes, which shows a compelling genetic heterogeneity for bovine PHA.

Several cauliflower-like alopecic masses arose on the head of an otherwise healthy, full-term newborn Jersey × Belgian blue heifer, which was humanely destroyed shortly after birth due to the severity of the skin lesions. Microscopically, the masses were composed of multiple papillary projections displaying well-differentiated sebaceous glands surrounded by a moderate number of well-developed sweat glands, as well as embryonic and fully developed, but dysplastic hair follicles. Thick branching connective tissue stalks supported these adnexal components. The papillated surface, the predominance of sebaceous glands, the presence of embryonic hair follicles and the well-differentiated sweat glands were compatible with nevus sebaceous, a rare form of cutaneous hamartoma described in man, dogs, cats and cattle. However, the cauliflower-like growth pattern, the presence of supportive thick branching connective tissue stalks and the relative abundance of dysplastic hair follicles in association with nevus sebaceous has not been described in the human or veterinary literature. A diagnosis of panadnexal papillomatous hamartoma was made in this case.

Internationally, the 1000 days movement calls for action and investment in improving nutrition for the period from a child's conception to their second birthday, thereby providing an organising framework for early-life interventions. To ensure Australian Indigenous families benefit from this 1000 days framework, an Indigenous-led year-long engagement process was undertaken linking early-life researchers, research institutions, policy-makers, professional associations and human rights activists with Australian Indigenous organisations and families. The resultant model, First 1000 Days Australia, broadened the international concept beyond improving nutrition. The First 1000 Days Australia model was built by adhering to Indigenous methodologies, a recognition of the centrality of culture that reinforces and strengthens families, and uses a holistic view of health and wellbeing. The First 1000 Days Australia was developed under the auspice of Indigenous people's leadership using a collective impact framework. As such, the model emphasises Indigenous leadership, mutual trust and solidarity to achieve early-life equity.

Bacterial invasion of the uterus during the postpartum period has been well described. Recent papers using 16S rRNA gene sequencing techniques suggest that the nonpregnant uterus contains a diverse flora of bacteria that are not necessarily pathogenic. In contrast, the pregnant uterus has until now been considered a sterile environment. The aim of the present study was to investigate whether bacteria were present in the uteri of pregnant cows. Uteri from pregnant, slaughtered animals (n = 47) were sampled. The surface of the uterus was wiped with alcohol, flame sterilized, and cut open with sterile scissors. Samples were taken from the endometrium and from the placentomes. The samples were embedded in paraffin, sectioned at 3 microns, and prepared for fluorescence in situ hybridization using a probe targeting the 16S rRNA of the domain bacteria, so that all bacteria regardless of species were visualised. Using fluorescence microscopy, the presence of bacteria within or on the surface of the endometrium and within the placentomes was noted. The stage of pregnancy was estimated to range from 26 to 263 days by measuring the size of the embryo or fetus. The endometrial samples from 85.1% (40/47) of pregnant cows contained bacteria. In 22 cows, the bacteria were localised within the endometrial tissue, whereas in the remaining 18 cows, the bacteria were on the epithelial surface. Placental samples were obtained from 43 cows, and 76.7% (33/43) of these contained bacteria. The presence of bacteria in the pregnant uterus may suggest that a cow can carry a pregnancy despite the presence of few potentially pathogenic bacteria or that normal flora exist in the uterus as in, for example, the vagina. In conclusion, bacteria were present in the endometrium and placentomes of pregnant cows. Further analyses using rRNA gene sequencing techniques will aim to confirm the presence of bacteria in the bovine pregnant uterus and to investigate which species of bacteria are present in the

Contents An anencephalic full-term porcine foetus accompanied by a mummified head was submitted for examination. The neck almost entirely lacked skin and was covered by granulation tissue as were the exposed parts of the spine and spinal cord. The case represents a rare case of intrauterine amputation. A definitive cause could not be established because the placenta was not available. The most likely cause is strangulation of the neck. Such strangulation could be due to a defect of the allantoamnion with herniation of the foetal head or entanglement by amniotic constriction bands.