FIVE YEARS OF PARTULA SNAIL PRE-EXPORT HEALTH SCREENING.

Between 2015 and 2019, a health screening was carried out annually on captive-bred Partula snails prior to export for reintroduction as part of an international effort to repopulate areas of French Polynesia, where the snails were extinct or critically endangered. In total, 129 separate tank populations of 12 different species were screened at ZSL London Zoo. Wet mounts and smears stained with modified Ziehl-Neelsen (MZN) of 535 fecal samples were examined, and 45% contained flagellated protozoa, and 35.5% had MZN-positive oocysts, measuring 3-5 µm in diameter. Smaller (2 µm) presumptive spores, MZN-positive bacilli, ciliated protozoa and nematodes were recorded less frequently. Fecal bacterial culture yielded mixed species, with a clear predominance of Myroides species (88.9% of samples). The MZN-positive oocysts (3-5 µm) were present in 6.5% of impression smears from the apices of 432 snails examined postmortem, plus acid-fast bacilli in a few cases, but no 2 µm spores. Mixed bacteria were cultured from coelomic swabs, with Myroides species again the most common (63.5%). Histologic examination was carried out on 292 snails. Autolysis affected almost 90% of those found dead but only 3.4% of euthanized snails. Histology commonly identified microsporidial sporocysts in the digestive gland and midgut epithelium of all but two species. Intracellular, extracytoplasmic Cryptosporidium-like organisms were also common in the midgut but were only observed when snails were fixed in 10% formalin (2017-2019), not ethanol. There were no clear pathologic changes associated with either organism. Pigmented hemocytic nodules were commonly observed, most frequently in the foot process; these were either age related or evidence of prior chronic inflammatory reaction and of low clinical significance. With no evidence of poor health and no significant organisms found, a total of 4,978 individuals representing 12 species were exported for reintroduction.

Experiences of hereditary cancer care among transgender and gender diverse people: "It's gender. It's cancer risk it's everything".

Transgender and gender diverse (TGD) individuals are a significant yet underrepresented population within genetic counseling research and broader LGBTQI+ health studies. This underrepresentation perpetuates a cycle of exclusion from the production of medical knowledge, impacting the quality and equity of care received by TGD individuals. This issue is particularly poignant in cancer genetic counseling, where TGD individuals with elevated cancer risk receive risk assessment, counseling, and referral to support based on risk figures and standards of care developed for cisgender individuals. The experiences of TGD individuals navigating inherited cancer syndromes remain largely undocumented in medical literature, posing challenges to the provision of inclusive care by genetics providers. To bridge this knowledge gap, we conducted a cross-sectional qualitative study. Nineteen semi-structured interviews were held with gender diverse adults having hereditary cancer syndromes, family histories of such syndromes, or personal histories of chest cancer. Our study employed thematic analysis using combined inductive and deductive methods to illuminate how hereditary cancer care intersects with participants' gender identities, gender expression, and gender-affirming care experiences. Participants reflected on care experiences that felt affirming or triggered gender dysphoria. Participants also discussed the interplay between risk-reducing mastectomy and top surgery, exploring co-emergent dynamics between cancer risk management and gender expression. Significantly, participants identified actionable strategies for healthcare providers to enhance support for gender diverse patients, including the mindful use of gendered language, collaborative decision-making, and conveying allyship. These findings offer valuable insights into tailoring genetic counseling to meet the unique needs of TGD individuals, advancing the path toward inclusive and appropriate care for LGBTQI+ individuals with hereditary cancer syndromes.

Becoming a Rare Disease Parent: An Interpretative Phenomenological Analysis of Parent-Caregivers' Postpartum Experiences.

Rare diseases constitute a group of conditions that are individually rare, but in aggregate impact between 3 and 6% of the world population. Many of these conditions present during infancy and involve substantial caregiving responsibilities, often assessed via quantitative measurements. However, few qualitative analyses examine lived experiences of parent-caregivers during the early period of their child's life. The purpose of this study was to examine the meaning that rare disease parent-caregivers apply to the postpartum year using data collected from a semi-structured interview exploring significant experiences over the course of their affected child's life. We utilized an interpretative phenomenological analysis (IPA) approach to analyze 22 interview transcripts from caregivers to children with several inherited metabolic and mitochondrial disorders, as well as an undiagnosed disease. Our analysis yielded three superordinate themes: Reckoning With the Parent-Caregiver Role, Familial Transition, and Adaptation and Adjustment. Subordinate themes expanded upon these concepts and included distinctions between the parent and caregiving identity, communal coping and shifting of family dynamics, as well as meaning applied to child milestones, anticipatory grief, and parental perception of a new normal. Exploration of these themes in relation to existing literature, as well as future research directions for qualitative research on rare disease caregivers, is discussed. Overall, this work contributes to a growing body of literature exploring the parental experience of rare disease across several condition contexts.

Cancer Prevalence Across Vertebrates.

Cancer is pervasive across multicellular species, but what explains differences in cancer prevalence across species? Using 16,049 necropsy records for 292 species spanning three clades (amphibians, sauropsids and mammals) we found that neoplasia and malignancy prevalence increases with adult weight (contrary to Peto's Paradox) and somatic mutation rate, but decreases with gestation time. Evolution of cancer susceptibility appears to have undergone sudden shifts followed by stabilizing selection. Outliers for neoplasia prevalence include the common porpoise (<1.3%), the Rodrigues fruit bat (<1.6%) the black-footed penguin (<0.4%), ferrets (63%) and opossums (35%). Discovering why some species have particularly high or low levels of cancer may lead to a better understanding of cancer syndromes and novel strategies for the management and prevention of cancer.

A case report of truncus arteriosus with intact ventricular septum and crossed branch pulmonary arteries.

Background: Truncus arteriosus (TA) or persistent arterial trunk describes the presence of a solitary arterial trunk arising from the base of the heart, supported by a common ventriculoarterial junction. The trunk gives rise to the coronary arteries, systemic arteries, and at least one pulmonary artery. Truncus arteriosus is a rare congenital cardiac disease, and even rarer is the absence of ventricular septal defect. Case summary: We report a case of a 2-day-old infant who presented with cyanosis and a cardiac murmur. He was diagnosed with TA with intact ventricular septum (IVS), as well as crossed pulmonary arteries which was identified on pre-operative imaging. We describe the surgical management and short-term follow-up. Discussion: Our clinical case demonstrates a unique diagnosis and management of TA with IVS identified by pre-operative imaging with good surgical outcome.

Bridging clinic and wildlife care with AI-powered pan-species computational pathology.

Cancers occur across species. Understanding what is consistent and varies across species can provide new insights into cancer initiation and evolution, with significant implications for animal welfare and wildlife conservation. We build a pan-species cancer digital pathology atlas (panspecies.ai) and conduct a pan-species study of computational comparative pathology using a supervised convolutional neural network algorithm trained on human samples. The artificial intelligence algorithm achieves high accuracy in measuring immune response through single-cell classification for two transmissible cancers (canine transmissible venereal tumour, 0.94; Tasmanian devil facial tumour disease, 0.88). In 18 other vertebrate species (mammalia = 11, reptilia = 4, aves = 2, and amphibia = 1), accuracy (range 0.57-0.94) is influenced by cell morphological similarity preserved across different taxonomic groups, tumour sites, and variations in the immune compartment. Furthermore, a spatial immune score based on artificial intelligence and spatial statistics is associated with prognosis in canine melanoma and prostate tumours. A metric, named morphospace overlap, is developed to guide veterinary pathologists towards rational deployment of this technology on new samples. This study provides the foundation and guidelines for transferring artificial intelligence technologies to veterinary pathology based on understanding of morphological conservation, which could vastly accelerate developments in veterinary medicine and comparative oncology.

Cancer Prevalence Across Vertebrates.

Cancer is pervasive across multicellular species. Are there any patterns that can explain differences in cancer prevalence across species? Using 16,049 necropsy records for 292 species spanning three clades (amphibians, sauropsids and mammals) we found that neoplasia and malignancy prevalence increases with adult weight and decreases with gestation time, contrary to Peto’s Paradox. Evolution of cancer susceptibility appears to have undergone sudden shifts followed by stabilizing selection. Outliers for neoplasia prevalence include the common porpoise (<1.3%), the Rodrigues fruit bat (<1.6%) the black-footed penguin (<0.4%), ferrets (63%) and opossums (35%). Discovering why some species have particularly high or low levels of cancer may lead to a better understanding of cancer syndromes and novel strategies for the management and prevention of cancer.

Factors associated with emergency readmissions after acute stroke: A retrospective audit of two hospitals.

RATIONALE, AIMS AND OBJECTIVES: Emergency hospital readmissions within 30 days of discharge from hospital are considered a marker for the quality of hospital care, patient experience, the discharge process and integration with community services. This paper describes the frequency and variations in cause of emergency readmissions at 30 and 90 days following discharge after acute stroke from two stroke units. METHODS: Retrospective data collection of Hospital Episodes Statistics (HES) and Sentinel Stroke National Audit Programme (SSNAP) of consecutive acute stroke hospital discharges over 24 months from 2017 to 2019 from two specialist stroke units in England. HES data were used to calculate the Charlson comorbidity index (CCI). Covariates were analysed for their association with readmission rate, including: age; gender; CCI; length of stay for first stroke admission; living alone; discharge to a care home; discharge receiving stroke specialist early supported discharge (ESD) rehabilitation and stroke severity as determined by National Institute for Health Stroke Scale on stroke admission. RESULTS: From 2017 to 2019 there were 1999 live discharges with a primary diagnosis of stroke. Both hospitals had a trend of increasing readmission rates with increasing stroke severity and comorbidity. Longer length of stroke admission, especially for patients with increasing stroke severity, and patients receiving ESD rehabilitation after discharge reduced 90-day readmissions. This association was stronger at 90 days than at 30 days. Different readmission event rates were found at 30 and 90 days and when events were compared between the two hospitals. CONCLUSION: Understanding differences in readmission event rates between hospitals at 30 and 90 days can support local planning of patient needs in the first weeks after stroke discharge and to investigate ways for hospital to reduce the impact of readmission. It is recommended that stroke services use both 30 and 90-day readmissions to inform service evaluation and improvement.

Does leaving native antegrade pulmonary blood flow at the time of the superior cavopulmonary connection impact long-term outcomes after the Fontan?

Objectives: Antegrade pulmonary blood flow (APBF) may be left or eliminated at the time of the superior cavopulmonary connection (SCPC). Our aim was to assess the impact of leaving native APBF at the SCPC on long-term Fontan outcomes. Methods: In the Australia and New Zealand Fontan Registry (1985-2021), 587 patients had pre-existing native APBF at the SCPC. At the SCPC, 302 patients had APBF eliminated (APBF-) and 285 patients had APBF maintained (APBF+). The incidence of Fontan failure (composite end point of Fontan takedown, transplant, plastic bronchitis, protein losing enteropathy and death) and atrioventricular (AV) valve repair/replacement post SCPC was compared between the 2 groups. Results: Sex, predominant-ventricle morphology, isomerism, primary diagnosis, and age/type of Fontan were similar between groups. APBF- versus APBF+ had a higher incidence of arch obstruction/coarctation (17% vs 7%) and previous pulmonary artery band (54% vs 45%) and a lower rate of Fontan fenestration (27% vs 41%). The risk of Fontan failure was similar between the 2 groups (hazard ratio [HR], 1.01; 95% confidence interval [CI], 0.58-1.78; P = .96). The risk of AV-valve repair/replacement was greater in APBF+ versus APBF- (HR, 2.32; CI, 1.13-4.75; P = .022). The risk of AV-valve repair/replacement remained after adjustment for arch obstruction/coarctation, previous pulmonary artery band and Fontan fenestration (HR, 2.27; CI, 1.07-4.81; P = .033). Conclusions: Maintaining APBF at the time of the SCPC does not impact the risk of Fontan failure but may increase the incidence of AV-valve repair and/or replacement post-SCPC.

Links of we-talk to caregiver social network systems and health.

Caring for a child, particularly one with a rare disease, presents a challenging set of stressors that can impact entire family networks. Given this shared impact, caregivers can engage in communal coping to address the caregiving process, defined as the perception of caregiving as shared and collaborative behaviors to address it. In this study, we examined one common measure of communal coping-first person plural pronouns or "we-talk"-in caregivers of either (a) children with rare or undiagnosed diseases or (b) typically developing children. We sought to examine how we-talk is linked to (a) caregiver health and well-being and (b) social network involvement in caregiving. Caregivers (n = 311) participated in (a) survey questionnaires (b) a network enumeration interview and (c) a semistructured interview of caregiving. Results indicated we-talk was unrelated to stress or self-rated health, but was linked to more benefit-finding; greater individual-focused language (I-talk) was also linked to worse self-rated health. Additionally, we-talk was unrelated to malfeasant behavior (e.g., overly critical), but was linked to less nonfeasant behavior (e.g., underinvolvement), more uplift behavior (e.g., helping with caregiving), and more health-related communication with network members. Further, these findings did not differ across caregiving context. This work highlights the role of communal coping for caregivers managing general parenting stress as well as the stress associated with caring for a child with complex medical needs. Future research should continue to examine how interpersonal coping processes operate within social networks to impact health and well-being for all involved. (PsycInfo Database Record (c) 2022 APA, all rights reserved).

Experiences of Families Caring for Children with Newborn Screening-Related Conditions: Implications for the Expansion of Genomics in Population-Based Neonatal Public Health Programs.

With the expansion of newborn screening conditions globally and the increased use of genomic technologies for early detection, there is a need for ethically nuanced policies to guide the future integration of ever-more comprehensive genomics into population-based newborn screening programs. In the current paper, we consider the lived experiences of 169 family caregivers caring for 77 children with NBS-related conditions to identify lessons learned that can inform policy and practice related to population-based newborn screening using genomic technologies. Based on caregiver narratives obtained through in-depth interviews, we identify themes characterizing these families' diagnostic odyssey continuum, which fall within two domains: (1) medical management implications of a child diagnosed with an NBS-related condition and (2) psychological implications of a child diagnosed with an NBS-related condition. For Domain 1, family caregivers' experiences point to the need for educational resources for both health care professionals that serve children with NBS-related conditions and their families; empowerment programs for family caregivers; training for providers in patient-centered communication; and access to multi-disciplinary specialists. For Domain 2, caregivers' experiences suggest a need for access to continuous, long-term counseling resources; patient navigator resources; and peer support programs. These lessons learned can inform policy recommendations for the benefit of the child, the family, the healthcare system, and society.

Stress, coping, and positive aspects of caregiving among caregivers of children with rare disease.

OBJECTIVE: Caregivers of children with rare diseases often consider caregiving to be a rewarding experience, despite high levels of burden. The present study examined associations between caregiver stress and positive aspects of caregiving (PAC); investigated associations between interpersonal coping strategies and PAC; and determined whether coping strategies moderated associations between stressors and PAC. DESIGN: Survey data came from a study on caregivers across different caregiving conditions, including caregivers of children diagnosed with inherited metabolic conditions (n = 167), undiagnosed diseases (n = 23), and caregivers of typically-developing children (n = 74). MAIN OUTCOME MEASURES: Positive Aspects of Caregiving (PAC) scale. RESULTS: Results from generalized linear models indicated that perceived burden was not associated with PAC. Venting was negatively associated with PAC (b= -0.09, p=.03), whereas emotional support was associated with increased PAC for caregivers of children with undiagnosed conditions (b = 0.15, p=.02). Care needs were associated with greater PAC among caregivers engaged in high levels of emotional support coping (b = 0.10, p=.01) and venting (b = 0.09, p=.03). CONCLUSION: These findings illuminate important differences in PAC based on the caregiving condition, and aspects of the caregiver stress process model that might be universal to caregivers. Results inform stress process theory and highlight the potential of support-based interventions for promoting PAC.

Retrospective review of Kawasaki disease at the Women's and Children's Hospital, South Australia.

AIM: Kawasaki disease (KD) is one of the most common causes of acquired cardiac disease in children in high-income countries. The incidence of coronary artery disease (CAD), despite treatment with intravenous immunoglobulin, ranges from 5 to 20%. Determining risk factors for CAD may assist with management and reduce long-term complications. METHODS: Retrospective data were collected for all patients presenting to the Women's and Children's Hospital with a discharge diagnosis of KD over a 10.5-year period, from 2007 to 2018. RESULTS: A total of 141 patients were included in the review; 101 patients fulfilled complete criteria for KD; 25 incomplete criteria and 15 did not meet criteria but were treated for KD. CAD was present in 27.7% of all patients, ranging from ectasia to giant aneurysms based on Z-scores and echocardiogram descriptions. Medium to large aneurysms accounted for 8.5% of all patients with suspected KD. Patients with CAD were more likely to: fulfil incomplete criteria (odds ratio (OR) 4.3, 95% confidence interval (CI) 1.7-10.8, P = 0.0027), be less than 12 months of age (OR 11.38, 95% CI 2.94-44.11, P = 0.0001), have CRP > 100 (OR 2.8, 95% CI 1.31-6.02, P = 0.0068) and have a delay in treatment (average day of illness prior to treatment 8.89 vs. 6.78 (OR 1.19, 95% CI 1.05-1.35, P = 0.0055)). Patients with a Kobayashi score ≥4 had a higher rate of re-treatment with intravenous immunoglobulin (OR 3.16, 95% CI 1.27-7.83, P = 0.013). CONCLUSION: Our data are consistent with previously reported risk factors, and high rates of CAD despite standard treatment.

'A Way to Know' Your Stress: Acceptability and Meaning of Hair Sample Collection for Cortisol Analysis From African-American and Latina Women in a Digital Storytelling Study.

Obtaining biological samples for research purposes from members of marginalized communities demands careful social and ethical consideration. This paper aims to discuss how feasibility and acceptability translate into methodological and ethical considerations for collecting hair samples in a study comprised of young, pregnant Latinx and African-American women participating in a digital storytelling intervention (DST). Transcripts from two focus groups with Healthy Families home visitor staff (N =10) and follow-up interviews with DST participants (N = 8) were analyzed through qualitative content analysis for hair sampling acceptability. Responses regarding the feasibility of obtaining a hair sample were generally positive amongst Healthy Families home visitor staff participating in the two focus groups, though responses overall were more favorable with the pregnant women participants who were interviewed post-DST intervention. Home visitors emphasized clear communication to participants around the reasoning for obtaining biological samples. Social and ethical considerations for communication of biomarker data to participants, as well as the intersection of lay knowledge of stress and participants' perspectives on providing a hair sample for cortisol analysis, is discussed.

Correction to 'Buried treasure-marine turtles do not "disguise" or "camouflage" their nests but avoid them and create a decoy trail'.

[This corrects the article DOI: 10.1098/rsos.200327.].

Buried treasure-marine turtles do not 'disguise' or 'camouflage' their nests but avoid them and create a decoy trail.

After laying their eggs and refilling the egg chamber, sea turtles scatter sand extensively around the nest site. This is presumed to camouflage the nest, or optimize local conditions for egg development, but a consensus on its function is lacking. We quantified activity and mapped the movements of hawksbill (Eretmochelys imbricata) and leatherback (Dermochelys coriacea) turtles during sand-scattering. For leatherbacks, we also recorded activity at each sand-scattering position. For hawksbills, we recorded breathing rates during nesting as an indicator of metabolic investment and compared with published values for leatherbacks. Temporal and inferred metabolic investment in sand-scattering was substantial for both species. Neither species remained near the nest while sand-scattering, instead moving to several other positions to scatter sand, changing direction each time, progressively displacing themselves from the nest site. Movement patterns were highly diverse between individuals, but activity at each sand-scattering position changed little between completion of egg chamber refilling and return to the sea. Our findings are inconsistent with sand-scattering being to directly camouflage the nest, or primarily for modifying the nest-proximal environment. Instead, they are consistent with the construction of a series of dispersed decoy nests that may reduce the discovery of nests by predators.

Colon Epithelial MicroRNA Network in Fatty Liver.

Background & Aims: Intestinal barrier alterations are associated with fatty liver (FL) and metabolic syndrome (MetS), but microRNA (miR) signaling pathways in MetS-FL pathogenesis remain unclear. This study investigates an epithelial-focused miR network in colorectal cell models based on the previously reported MetS-FL miR trio of hsa-miR-142-3p, hsa-miR-18b, and hsa-miR-890. Methods: Each miR mimic construct of MetS-FL miR trio was transfected into human colorectal cells, CRL-1790 or Caco-2. Global miRNome changes posttransfection were profiled (nCounter® Human v3 miRNA, NanoString Technologies). Changes in barrier (transepithelial electrical resistance, TEER) and epithelial cell junction structure (Occludin and Zona Occludens-1/ZO-1 immunofluorescence staining-confocal microscopy) were examined pre- and posttransfection in Caco-2 cell monolayers. A signaling network was constructed from the MetS-FL miR trio, MetS-FL miR-induced colorectal miRNome changes, ZO-1, and Occludin. Results: Transfection of CRL-1790 cells with each MetS-FL miR mimic led to global changes in the cellular miRNome profile, with 288 miRs being altered in expression by more than twofold. Eleven miRs with known cytoskeletal and metabolic roles were commonly altered in expression by all three miR mimics. Transfection of Caco-2 cell monolayers with each MetS-FL miR mimic induced barrier-associated TEER variations and led to structural modifications of ZO-1 and Occludin within epithelial cell junctions. Pathway analysis incorporating the MetS-FL miR trio, eleven common target miRs, ZO-1, and Occludin revealed a signaling network centered on TNF and AKT2, which highlights injury, inflammation, and hyperplasia. Conclusions: Colon-specific changes in epithelial barriers, cell junction structure, and a miRNome signaling network are described from functional studies of a MetS-FL miR trio signature.

Eating Behavior, Stress, and Adiposity: Discordance Between Perception and Physiology.

The purpose of the study was to examine the interrelationships among stress, eating behavior, and adiposity in a cohort of normal- and overweight individuals. Clinical markers of physiological stress (fasting serum cortisol) and adiposity (body mass index [BMI] and percent body fat) were obtained from participants selected for a natural history protocol ( n = 107). Self-reported data on eating behavior (using the Three-Factor Eating Questionnaire subscales such as Cognitive Restraint, Disinhibition, and Hunger) and psychological stress (via the Perceived Stress Scale) were evaluated. Demographic information was incorporated using principal component analysis, which revealed sex- and weight-based differences in stress, adiposity, and eating behavior measures. Following a cross-sectional and descriptive analysis, significant correlations were found between the Disinhibition and Hunger eating behavior subscales and measures of adiposity including BMI ( r = .30, p = .002 and r = .20, p = .036, respectively) and percent body fat ( r = .43, p = .000 and r = .22, p = .022, respectively). Relationships between stress measures and eating behavior were also evident in the analysis. Disinhibition and Hunger correlated positively with perceived stress ( r = .32, p .001 and r = .26, p = .008, respectively). However, Disinhibition varied inversely with serum cortisol levels ( r = -.25, p = .009). Future studies are warranted to better understand this paradox underlying the effects of perceived and physiological stress on eating behavior.

Excited States of Triphenylamine-Substituted 2-Pyridyl-1,2,3-triazole Complexes.

A new 2-pyridyl-1,2,3-triazole (pytri) ligand, TPA-pytri, substituted with a triphenylamine (TPA) donor group on the 5 position of the pyridyl unit was synthesized and characterized. Dichloroplatinum(II), bis(phenylacetylide)platinum(II), bromotricarbonylrhenium(I), and bis(bipyridyl)ruthenium(II) complexes of this ligand were synthesized and compared to complexes of pytri ligands without the TPA substituent. The complexes of unsubstituted pytri ligands show metal-to-ligand charge-transfer (MLCT) absorption bands involving the pytri ligand in the near-UV region. These transitions are complemented by intraligand charge-transfer (ILCT) bands in the TPA-pytri complexes, resulting in greatly improved visible absorption (λmax = 421 nm and ϵ = 19800 M-1 cm-1 for [Pt(TPA-pytri)Cl2]). The resonance Raman enhancement patterns allow for assignment of these absorption bands. The [Re(TPA-pytri)(CO)3Br] and [Pt(TPA-pytri)(CCPh)2] complexes were examined with time-resolved infrared spectroscopy. Shifts in the C≡C and C≡O stretching bands revealed that the complexes form states with increased electron density about their metal centers. [Pt(TPA-pytri)Cl2] is unusual in that it is emissive despite the presence of deactivating d-d states, which prevents emission from the unsubstituted pytri complex.