Increasing prevalence of epizootic shell disease in American lobster from the nearshore Gulf of Maine

Epizootic shell disease (ESD) is a significant concern to the southern New England lobster fishery. Although ESD has been reported in the southern Gulf of Maine off Massachusetts, there are few reports from Maine waters. We report on the occurrence and distribution of ESD in American lobsters from nearshore Gulf of Maine from the Maine Commercial Lobster Sea Sampling Program. Overall, average prevalence levels of ESD by trip were very low (\u3c0.16%) through 2010, then increased from 2011 to the present, reaching 1.2% in 2013. As with previous studies, recent prevalence levels in legal and sublegal (\u3c127 mm CL) animals were higher (6%–7%) in egg-bearing females than in males and non-ovigerous females. This pattern was amplified in oversized (\u3e127 mm CL) lobsters, regardless of sex and reproductive state, with much higher prevalence levels (up to 22%). Spatially, prevalence levels of ESD were significantly higher in western regions of the Gulf of Maine than off eastern Maine. Using histology and microbiome analyses, the etiology of the disease was investigated and common signs of lobsters with ESD were described. Aquimarina homari, a bacterium associated with ESD, was significantly more prevalent on lobsters with lesions and abundance was correlated with severity of ESD. Our report indicates that ESD is present on lobsters throughout the nearshore waters of the Gulf of Maine. Given the effect of the disease on lobsters from southern New England and its increasing prevalence over time, further monitoring of ESD in the Gulf of Maine is warranted

Agriculture

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Development of rapid diagnostic techniques for idiopathic blindness in the American lobster, Homarus americanus, from eastern Long Island Sound

Idiopathic blindness is a condition that afflicts approximately 50% of the lobsters, Homarus americanus H. Milne-Edwards, 1837, in Long Island Sound (LIS). The condition occurs in lobsters from LIS and Narragansett Bay, but has lower prevalence levels in the Gulf of Maine. Grossly, the condition presents as patches of cloudy, gray-colored regions in the eyes of afflicted animals. Histologically, the ommatidia show signs of altered pigment distribution, necrosis of the optic nerves and rhabdoms, and hemocyte infiltration through the protective basement membrane separating the ommatidia from the optic nerves. Severe lesions show areas with necrotic ommatidia and nearly complete loss of the underlying associated optic nerves. We assessed a rapid, nondestructive, diagnostic technique for determining blindness in lobsters. We compared the use of an otolaryngoscope (o-scope) with stereomicroscopy on live, frozen, and histologically-fixed eyes. Live lobsters from Narragansett Bay, Rhode Island, and off southern Massachusetts were assessed with the o-scope. Right eyes were analyzed via standard histological procedures. Left eyes were frozen and stored at –80 °C, and later thawed and reassessed for blindness. The o-scope had good sensitivity and specificity in diagnosing blindness in the laboratory with good inter-observer comparisons among trained staff. Initial results indicate that the etiological agent of idiopathic blindness is present throughout a large portion of the sound, and that lobsters are probably continually exposed to it. The use of the o-scope as a diagnostic tool will help us better understand the distribution of idiopathic blindness in lobsters from the New England region

Three-dimensional facial morphology in Cantu syndrome

Cantú syndrome (CS) was first described in 1982, and is caused by pathogenic variants in ABCC9 and KCNJ8 encoding regulatory and pore forming subunits of ATP-sensitive potassium (KATP) channels, respectively. It is characterized by congenital hypertrichosis, osteochondrodysplasia, extensive cardiovascular abnormalities and distinctive facial anomalies including a broad nasal bridge, long philtrum, epicanthal folds, and prominent lips. Many genetic syndromes, such as CS, involve facial anomalies that serve as a significant clue in the initial identification of the respective disorder before clinical or molecular diagnosis are undertaken. However, an overwhelming number of CS patients receive misdiagnoses based on an evaluation of coarse facial features. By analyzing three-dimensional images of CS faces, we quantified facial dysmorphology in a cohort of both male and female CS patients with confirmed ABCC9 variants. Morphometric analysis of different regions of the face revealed gender-specific significant differences in face shape. Moreover, we show that 3D facial photographs can distinguish between CS and other genetic disorders with specific facial dysmorphologies that have been mistaken for CS-associated anomalies in the past, hence assisting in an earlier clinical and molecular diagnosis. This optimizes genetic counseling and reduces stress for patients and parents by avoiding unnecessary misdiagnosis

Addressing Personal Barriers to Advance Care Planning: Qualitative Investigation of a Mindfulness-Based Intervention for Adults with Cancer and Their Family Caregivers

Objective Advance care planning (ACP) increases quality of life and satisfaction with care for those with cancer and their families, yet these important conversations often do not occur. Barriers include patients’ and families’ emotional responses to cancer, such as anxiety and sadness, which can lead to avoidance of discussing illness-related topics such as ACP. Interventions that address psychological barriers to ACP are needed. The purpose of this study was to explore the effects of a mindfulness intervention designed to cultivate patient and caregiver emotional and relational capacity to respond to the challenges of cancer with greater ease, potentially decreasing psychological barriers to ACP and enhancing ACP engagement. Method The Mindfully Optimizing Delivery of End-of-Life (MODEL) Care intervention provided 12 hours of experiential training to two cohorts of six to seven adults with advanced-stage cancer and their family caregivers (n = 13 dyads). Training included mindfulness practices, mindful communication skills development, and information about ACP. Patient and caregiver experiences of the MODEL Care program were assessed using semistructured interviews administered immediately postintervention and open-ended survey questions delivered immediately and at 4 weeks postintervention. Responses were analyzed using qualitative methods. Result Four salient themes were identified. Patients and caregivers reported the intervention (1) enhanced adaptive coping practices, (2) lowered emotional reactivity, (3) strengthened relationships, and (4) improved communication, including communication about their disease. Significance of results The MODEL Care intervention enhanced patient and caregiver capacity to respond to the emotional challenges that often accompany advanced cancer and decreased patient and caregiver psychological barriers to ACP

Behavioral and cognitive functioning in individuals with Cantu syndrome

Cantú syndrome (CS) is caused by pathogenic variants in ABCC9 and KCNJ8 encoding the regulatory and pore-forming subunits of ATP-sensitive potassium (KATP ) channels. CS is characterized by congenital hypertrichosis, distinctive facial features, peripheral edema, and cardiac and neurodevelopmental abnormalities. Behavioral and cognitive issues have been self-reported by some CS individuals, but results of formal standardized investigations have not been published. To assess the cognitive profile, social functioning, and psychiatric symptoms in a large group of CS subjects systematically in a cross-sectional manner, we invited 35 individuals (1-69 years) with confirmed ABCC9 variants and their relatives to complete various commonly applied standardized age-related questionnaires, including the Kaufman brief intelligence test 2, the social responsiveness scale-2, and the Achenbach system of empirically based assessment. The majority of CS individuals demonstrated average verbal and nonverbal intelligence compared to the general population. Fifteen percent of cases showed social functioning strongly associated with a clinical diagnosis of autism spectrum disorder. Both externalizing and internalizing problems were also present in this cohort. In particular, anxiety, anxiety or attention deficit hyperactivity disorder, and autism spectrum behaviors were predominantly observed in the younger subjects in the cohort (≥25%), but this percentage decreased markedly in adults

Effect of Temperature on Cystic Fibrosis Lung Disease and Infections: A Replicated Cohort Study

Progressive lung disease accounts for the majority of morbidity and mortality observed in cystic fibrosis (CF). Beyond secondhand smoke exposure and socio-economic status, the effect of specific environmental factors on CF lung function is largely unknown.Multivariate regression was used to assess correlation between specific environmental factors, the presence of pulmonary pathogens, and variation in lung function using subjects enrolled in the U.S. CF Twin and Sibling Study (CFTSS: n = 1378). Significant associations were tested for replication in the U.S. CF Foundation Patient Registry (CFF: n = 16439), the Australian CF Data Registry (ACFDR: n = 1801), and prospectively ascertained subjects from Australia/New Zealand (ACFBAL: n = 167).In CFTSS subjects, the presence of Pseudomonas aeruginosa (OR = 1.06 per °F; p<0.001) was associated with warmer annual ambient temperatures. This finding was independently replicated in the CFF (1.02; p<0.001), ACFDR (1.05; p = 0.002), and ACFBAL (1.09; p = 0.003) subjects. Warmer temperatures (-0.34 points per °F; p = 0.005) and public insurance (-6.43 points; p<0.001) were associated with lower lung function in the CFTSS subjects. These findings were replicated in the CFF subjects (temperature: -0.31; p<0.001; insurance: -9.11; p<0.001) and similar in the ACFDR subjects (temperature: -0.23; p = 0.057). The association between temperature and lung function was minimally influenced by P. aeruginosa. Similarly, the association between temperature and P. aeruginosa was largely independent of lung function.Ambient temperature is associated with prevalence of P. aeruginosa and lung function in four independent samples of CF patients from two continents

Mindfulness Training Supports Quality of Life and Advance Care Planning in Adults With Metastatic Cancer and Their Caregivers: Results of a Pilot Study

Background: Emotional distress often causes patients with cancer and their family caregivers (FCGs) to avoid end-of-life discussions and advance care planning (ACP), which may undermine quality of life (QoL). Most ACP interventions fail to address emotional barriers that impede timely ACP. Aim: We assessed feasibility, acceptability, and preliminary effects of a mindfulness-based intervention to facilitate ACP for adults with advanced-stage cancer and their FCGs. Design: A single-arm pilot was conducted to assess the impact of a 6-week group mindfulness intervention on ACP behaviors (patients only), QoL, family communication, avoidant coping, distress, and other outcomes from baseline (T1) to post-intervention (T2) and 1 month later (T3). Participants: Eligible patients had advanced-stage solid malignancies, limited ACP engagement, and an FCG willing to participate. Thirteen dyads (N = 26 participants) enrolled at an academic cancer center in the United States. Results: Of eligible patients, 59.1% enrolled. Attendance (70.8% across 6 sessions) and retention (84.6% for patients; 92.3% for FCGs) through T3 were acceptable. Over 90% of completers reported high intervention satisfaction. From T1 to T3, patient engagement more than doubled in each of 3 ACP behaviors assessed. Patients reported large significant decreases in distress at T2 and T3. Family caregivers reported large significant improvements in QoL and family communication at T2 and T3. Both patients and FCGs reported notable reductions in sleep disturbance and avoidant coping at T3. Conclusions: The mindfulness intervention was feasible and acceptable and supported improvements in ACP and associated outcomes for patients and FCGs. A randomized trial of mindfulness training for ACP is warranted

PCR versus Hybridization for Detecting Virulence Genes of Enterohemorrhagic Escherichia coli

We compared PCR amplification of 9 enterohemorrhagic Escherichia coli virulence factors among 40 isolates (21 O/H antigenicity classes) with DNA hybridization. Both methods showed 100% of the chromosomal and phage genes: eae, stx, and stx2. PCR did not detect 4%–20% of hybridizable plasmid genes: hlyA, katP, espP, toxB, open reading frame (ORF) 1, and ORF2

Defective Cell Cycle Checkpoint Functions in Melanoma Are Associated with Altered Patterns of Gene Expression

Defects in DNA damage responses may underlie genetic instability and malignant progression in melanoma. Cultures of normal human melanocytes (NHMs) and melanoma lines were analyzed to determine whether global patterns of gene expression could predict the efficacy of DNA damage cell cycle checkpoints that arrest growth and suppress genetic instability. NHMs displayed effective G1 and G2 checkpoint responses to ionizing radiation-induced DNA damage. A majority of melanoma cell lines (11/16) displayed significant quantitative defects in one or both checkpoints. Melanomas with B-RAF mutations as a class displayed a significant defect in DNA damage G2 checkpoint function. In contrast the epithelial-like subtype of melanomas with wild-type N-RAS and B-RAF alleles displayed an effective G2 checkpoint but a significant defect in G1 checkpoint function. RNA expression profiling revealed that melanoma lines with defects in the DNA damage G1 checkpoint displayed reduced expression of p53 transcriptional targets, such as CDKN1A and DDB2, and enhanced expression of proliferation-associated genes, such as CDC7 and GEMININ. A Bayesian analysis tool was more accurate than significance analysis of microarrays for predicting checkpoint function using a leave-one-out method. The results suggest that defects in DNA damage checkpoints may be recognized in melanomas through analysis of gene expression