Additional Members Research Articles

Surgical Team Structure: How Familiarity and Team Size Influence Communication Effectiveness in Military Surgical Teams.

Preventable patient harm has persisted in health care despite recent advances to reduce errors. There is increasing recognition that non-technical skills, including communication and relationships, greatly impact interprofessional team performance and health care quality. Team familiarity and size are critical structural components that potentially influence information flow, communication, and efficiency. In this exploratory, prospective, cross-sectional study, we investigated the key structural components of surgical teams and identified how surgical team structure shapes communication effectiveness. Using total population sampling, we recruited surgical clinicians who provide direct patient care at a 138-bed military medical center. We used statistical modeling to characterize the relationship between communication effectiveness and five predictors: team familiarity, team size, surgical complexity, and the presence of surgical residents and student anesthesia professionals. We surveyed 137 surgical teams composed of 149 multidisciplinary clinicians for an 82% response rate. The mean communication effectiveness score was 4.61 (SD = 0.30), the average team size was 4.53 (SD = 0.69) persons, and the average surgical complexity was 10.85 relative value units (SD = 6.86). The surgical teams exhibited high variability in familiarity, with teams co-performing 26% (SD = 0.16) of each other's surgeries. We found for every unit increase in team familiarity, communication effectiveness increased by 0.36 (P ≤ .05), whereas adding one additional member to the surgical team decreased communication effectiveness by 0.1 (P ≤ .05). Surgical complexity and the influence of residents and students were not associated with communication effectiveness. For military surgical teams, greater familiarity and smaller team sizes were associated with small improvements in communication effectiveness. Military leaders can likely enhance team communication by engaging in a thoughtful and concerted program to foster cohesion by building familiarity and optimizing team size to meet task and cognitive demands. We suggest leaders develop bundled approaches to improve communication by integrating team familiarity and team size optimization into current evidence-based initiatives to enhance performance.

Bridging the divide: The effect of individuating information on attitudes toward political outgroup members

Liberals and conservatives in the United States exhibit intergroup bias toward those on the other side. In three preregistered experiments (N = 1,389), we examined the bias-reducing benefits of individuating members of the political outgroup by providing people with individuating information—information that provides knowledge about them beyond their group membership, such as their social roles, emotions, and personality. Studies 1 and 2 extended work on individuating information into this domain by testing its impact on a novel political outgroup member. Study 3 broke new ground by testing whether the benefits of learning individuating information can extend to additional members of the outgroup. Each methodology revealed that, compared to those who read non-individuating controls, participants who learned individuating information about a political outgroup member were less hostile and more empathic toward that outgroup member. The current studies thus identify a promising avenue for reducing interparty hostility.

'It opened my eyes, my ears, and my heart': Codesigning a substance use disorder treatment programme.

Pregnant and parenting women have low engagement and poor retention in substance use disorder (SUD) treatment. The aim of this study was to analyse the implementation of an adapted experience-based codesign (EBCD) process involving SUD treatment staff and pregnant or parenting women with lived experience (WWLE) of SUD to launch a residential treatment service where women could coreside with their children and receive long term comprehensive treatment for dual diagnosis of SUD and mental illness. A process evaluation was conducted utilising five data sources: two sets of semistructured interviews with WWLE and SUD treatment staff, ethnographic observation and transcripts from group events, and meeting minutes. Based on the Integrated Promoting Action on Research in Health Services framework constructs (context, recipients, facilitation, innovation) researchers applied thematic analysis to determine main themes within each construct. The full sample across the implementation totalled 34 individuals (WWLE = 13 and SUD staff = 21). The EBCD process engaged both cohorts and supported group cohesion and collaborative brainstorming. WWLE felt respected, emotionally safe to share, and empowered by participation. A cohesive, multidisciplinary codesign planning group, inclusive of WWLE, supported a more equitable codesign process. The need for a virtual platform due to the COVID-19 pandemic impeded human connection and relationship building. The complex environment of residential regulations and uncertainties during start-up phase of an organisation presented implementation challenges. These results highlight the feasibility of, and challenges to, effectively engaging WWLE in a codesign process. The findings also demonstrated a positive influence on WWLE's feelings of empowerment. Identified themes reinforce the purposeful components within EBCD that enhance participation, along with new insights to inform successful codesign with a vulnerable population. The author's team included a WWLE who collaborated throughout the full scope of the research process, enriching the overall research and ensuring the authenticity of the presentation of women in recovery's perspective. Utilising the codesign approach to design and implement new services should improve health equity by enhancing patient engagement and retention in care. Parenting WWLE of residential SUD treatment were involved in the full scope of the research process and the implementation being evaluated. For the actual codesign work WWLE were key members of the codesign planning team that met weekly throughout the implementation to plan, implement, problem solve and adapt the process over an 18 month timeframe. As is appropriate for codesign the actual ongoing workgroup participants had average 50% WWLE participation. For the research team, this research is a culmination of the lead author's doctoral dissertation. One member of the five-person dissertation committee was a recovery coach and a WWLE. She was an active participant across the entire research process overseeing and influencing the research design, conduct of the study, analysis, interpretation of findings and approval of the final manuscript. The findings were member checked with the larger codesign planning group that had additional WWLE members.

Assessing Flight Crew Fatigue under Extra Augmented Crew Schedule Using a Multimodality Approach

During the COVID-19 pandemic, the question of how to reduce the risk of viral infection for international airline pilots without increasing the risk of fatigue was a novel and urgent theoretical and practical problem, which had never been encountered in the world civil aviation industry. A new scheduling method implemented by the Civil Aviation Administration of China (CAAC) is the extra augmented crew (EAC) schedule, which avoids crew layover in another country on international flights by extending the maximum duty time and adding two additional crew members to such long-haul flights. In this study, a multi-day flight crew fatigue assessment was conducted to evaluate the impact of EAC flight. We recruited 71 pilots as participants, and their fatigue during EAC flights was measured using a multimodality approach integrating a subjective fatigue report, a psychomotor vigilance task, sleep monitoring, and biomathematical model predictions. The results showed that the subjective fatigue level increased during duty time compared to off-duty time, but still with acceptable levels of under 7, as measured by the Karolinska Sleepiness Scale; objective secondary task performance, as measured by the classic psychomotor vigilance task, showed no differences; pilots were able to get around 6 h of sleep, although they slept less during duty time compared to off-duty time. Model fitting using the FAID biomathematical model of fatigue confirmed that the EAC scheduling was compliant with the FAID tolerance level 91.3% of the time. The results suggest that the EAC flight created some moderate level of increased fatigue but no severe fatigue to cross-continent long-haul flight crews. This research can inform current and future scheduling and fatigue risk control during the pandemic or for future time-sensitive periods.

Family‐level responses to the introduction of Tax‐Free Savings Accounts

AbstractThis paper presents evidence on the effect of the introduction of Canadian Tax‐Free Savings Accounts (TFSAs) on the savings of families with children. Contributions to TFSAs are not tax‐deductible but capital income earned in the account accrues tax‐free and withdrawals are not taxed. Using a difference‐in‐differences instrumental variables research design that exploits the sharp change in a family's cumulative TFSA contribution room that arises when a child turns 18 years old, I find that a $1 increase in family‐level TFSA balances lowers taxable financial asset holdings by approximately $0.25 to $0.45 and has no statistically significant effect on holdings in traditional tax‐deferred accounts. My results suggest that having an additional adult family member eligible to open a TFSA increases the TFSA contributions and account balances of both adult children and their parents.

The Sterol Transporter Npc2c Controls Intestinal Stem Cell Mitosis and Host-Microbiome Interactions in Drosophila.

Cholesterol is necessary for all cells to function. The intracellular cholesterol transporters Npc1 and Npc2 control sterol trafficking and their malfunction leads to Neimann-Pick Type C disease, a rare disorder affecting the nervous system and the intestine. Unlike humans that encode single Npc1 and Npc2 transporters, flies encompass two Npc1 (Npc1a-1b) and eight Npc2 (Npc2a-2h) members, and most of the Npc2 family genes remain unexplored. Here, we focus on the intestinal function of Npc2c in the adult. We find that Npc2c is necessary for intestinal stem cell (ISC) mitosis, maintenance of the ISC lineage, survival upon pathogenic infection, as well as tumor growth. Impaired mitosis of Npc2c-silenced midguts is accompanied by reduced expression of Cyclin genes, and genes encoding ISC regulators, such as Delta, unpaired1 and Socs36E. ISC-specific Npc2c silencing induces Attacin-A expression, a phenotype reminiscent of Gram-negative bacteria overabundance. Metagenomic analysis of Npc2c-depleted midguts indicates intestinal dysbiosis, whereby decreased commensal complexity is accompanied by increased gamma-proteobacteria. ISC-specific Npc2c silencing also results in increased cholesterol aggregation. Interestingly, administration of the non-steroidal ecdysone receptor agonist, RH5849, rescues mitosis of Npc2c-silenced midguts and increases expression of the ecdysone response gene Broad, underscoring the role of Npc2c and sterols in ecdysone signaling. Assessment of additional Npc2 family members indicates potential redundant roles with Npc2c in ISC control and response to ecdysone signaling. Our results highlight a previously unidentified essential role of Npc2c in ISC mitosis, as well as an important role in ecdysone signaling and microbiome composition in the Drosophila midgut.

A History of over 50 Years of SUNY Buffalo State’s Paintings Conservation Education

ABSTRACT Paintings conservation education at State University of New York (SUNY) Buffalo State University has evolved over the last 50 years. The foundation and beginnings of the art conservation program at SUNY Buffalo State University is described through the lens of paintings conservation. The first section details the background of paintings conservators Sheldon Keck and Caroline Keck in their conservation approaches and their key roles in developing the Cooperstown conservation training program at SUNY Oneonta. The original curriculum developed by the Kecks and as it relates to paintings conservation is also explored. The second section discusses the additional paintings faculty members, the move of the program from Cooperstown to Buffalo, the new facilities, as well as the later years of graduate education in paintings conservation, culminating with the effects of the pandemic and recent developments.

Applying after-action reviews to child and family teams to improve mental health service linkage within child welfare services: a study protocol

BackgroundHalf of child-welfare-involved children and adolescents meet the criteria for at least one mental health diagnosis. This project proposes to improve successful mental health service linkage in child welfare services (CWS) by adapting and testing the after-action review (AAR) team effectiveness intervention to augment the child and family team (CFT) services’ intervention. Despite being both required and a collaborative approach to service planning, CFT meetings are implemented with questionable fidelity and consistency, rarely including the voice of children and families as intended.MethodsUsing a parallel group trial design, with non-equivalent comparison groups, and qualitative and quantitative methodology, this study will tailor and assess the impact of the AAR on enhancing CFT outcomes. The authors will conduct a qualitative needs assessment targeting the ongoing implementation of the CFT services intervention in a large, publicly funded, CWS system. A qualitative inquiry consisting of interviews and focus groups with key stakeholders will result in the preparation of an action plan to address identified gaps between the current and desired CFT services intervention outcomes. The AAR implementation strategy will be adapted and tailored to address the CFT services’ intervention needs. To test the effectiveness of the AAR on improving outcomes associated with the CFT services intervention, we will utilize blocked randomization of four CWS caseworkers from two CWS system regions to either the intervention condition (CFT + AAR) or standard implementation (CFT as usual). The authors will collect data from the CWS caseworkers and additional CFT members via web-based surveys. Mechanisms of the AAR team effectiveness intervention for CFT implementation will be assessed.DiscussionBy inclusion of child and family voice, the AAR-enhanced CFT should lead to increased fidelity to the CFT intervention and greater levels of parental satisfaction with the service and shared decision-making, thus resulting in enhanced follow-through with service plans and linkage to mental health treatment services for children. The knowledge gained by this randomized clinical trial has the potential to benefit service delivery and integration for CWS leaders, caseworkers, formal and informal CFT member support persons, parents/caregivers, and children with open cases. Improving intervention effectiveness, both at the system and family levels, is crucial for practice efficiencies and improved child and family outcomes.Trial registrationNCT05629013. Approval date: November 28, 2022 (version 1).Trial sponsorUniversity of California, San Diego.Responsible partyDanielle Fettes.

ED-2: A cold but not so narrow stellar stream crossing the solar neighbourhood

Context. ED-2 is a stellar stream identified as a compact group in integrals-of-motion space in a local sample of halo stars from the third Gaia data release. Aims. We investigate its nature and possible association with known halo substructures. Methods. We explored the current properties of ED-2 members in phase-space and also analysed the expected distribution via orbit integration. In addition, we studied the metallicity of ED-2 using APOGEE DR17 and LAMOST DR8 (and re-calibrated DR3). Results. ED-2 forms a compact group in the x − z (or R − z) plane, showing a pancake-like structure as it crosses the solar neighbourhood. Dynamically, it is most similar to the globular clusters NGC 3201 and NGC 6101 and to the stellar streams Ylgr and Phlegethon. However, its orbit is sufficiently different for none of these objects to likely be the ED-2 progenitor. We also find ED-2 to be quite metal poor: all of its stars have [Fe/H]≤ − 2.42, with a median [Fe/H] = −2.60−0.21+0.20. At this low metallicity, it is unlikely that ED-2 stems from any known globular cluster. Instead, ED-2 seems to be in a similar category as the recently discovered Phoenix and C-19 stellar streams. We find that ED-2 members are scattered across the whole sky, which is due to its current orbital phase. We predict that as this object moves to its next apocentre, it will acquire an on-sky morphology that is similar to that of cold stellar streams. Finally, because ED-2 is nearing pericentre, we predict that additional members found below the plane will have high radial velocities of close to ∼500 km s−1 in the present-day direction of the globular cluster NGC 6101.

Differential targeting of lysophosphatidic acid LPA1, LPA2, and LPA3 receptor signalling by tricyclic and tetracyclic antidepressants.

We previously reported that in different cell types antidepressant drugs activate lysophosphatidic acid (LPA) LPA1 receptor to induce proliferative and prosurvival responses. Here, we further characterize this unique action of antidepressants by examining their effects on two additional LPA receptor family members, LPA2 and LPA3. Human LPA1-3 receptors were stably expressed in HEK-293 cells (HEK-LPA1, -LPA2 and –LPA3 cells) and their functional activity was determined by Western blot and immunofluorescence. LPA effectively stimulated the phosphorylation of extracellular signal-regulated protein kinases 1 and 2 (ERK1/2) in HEK-LPA1, -LPA2, and -LPA3 cells. The tricyclic antidepressants amitriptyline, clomipramine, imipramine and desipramine increased phospho-ERK1/2 levels in HEK-LPA1 and –LPA3 cells but were relatively poor agonists in LPA2-expressing cells. The tetracyclic antidepressants mianserin and mirtazapine were active at all three LPA receptors. When combined with LPA, both amitriptyline and mianserin potentiated Gi/o-mediated phosphorylation of ERK1/2 induced by LPA in HEK-LPA1, -LPA2 and -LPA3 cells, CHO–K1 fibroblasts and HT22 hippocampal neuroblasts. This potentiation was associated with enhanced phosphorylation of CREB and S6 ribosomal protein, two molecular targets of activated ERK1/2. The antidepressants also potentiated LPA-induced Gq/11-mediated phosphorylation of AMP-activated protein kinase in HEK-LPA1 and –LPA3 cells. Conversely, amitriptyline and mianserin were found to inhibit LPA-induced Rho activation in HEK-LPA1 and LPA2 cells. These results indicate that tricyclic and tetracyclic antidepressants can act on LPA1, LPA2 and LPA3 receptor subtypes and exert differential effects on LPA signalling through these receptors.

131 A review of the implementation of a specialist older persons 7 day service within an acute setting

Abstract Background As part of Winter Planning Initiatives 2021–2023 additional funding was allocated to expand the service being offered to older persons within the acute hospital setting, across the disciplines of Occupational Therapy (OT), Physiotherapy (PT) and Nursing. This is aimed at providing a person centred 7 day service, supporting admission avoidance and promoting patient flow through the hospital by enhancing timely discharges and transfers of care. Methods Referrals to the specialist older persons service were primarily received from the Homefirst team (Frailty at the front door). Those who were referred had been admitted onto an acute ward and had been identified as requiring specialist therapy input to enhance the quality of their stay in addition to supporting safe and timely discharges home or transfers of care. A comprehensive OT assessment was carried out with all patients. A reduced 7 day service was commenced in order to gather information to assist future service planning. Results 2 Occupational Therapists were recruited prior to additional team members therefore, initial referrals accepted were those with identified OT needs. All referrals were accepted with a triaging system being developed as the service became more established. All referrals had a Clinical Frailty Score (CFS) of between 3–7. Patient Outcomes included discharge direct to home or transfer of care including rehab, stepdown, nursing home and hospice facilities. These outcomes were impacted by social support systems, availability of community resources and limited access to ongoing specialist team input. Conclusion The introduction of a specialist older persons 7 day service working within an integrated model of care, has wide ranging impacts for patients and the organisation. Access to specialist acute older persons services provides targeted assessment and intervention, supporting early decision making, quality and flow.

Identification of the first homozygous intragenic deletion in the YY1AP1 gene in a consanguineous family: New insights into the phenotypic variability associated with Grange syndrome.

Grange syndrome (GRNG-MIM#135580) is a rare recessive disorder associating variable features including diffuse vascular stenosis, brachysyndactyly, osteopenia with increased bone fragility, cardiac malformations, and variable developmental delay. Since its first description in 1998, only 15 individuals from 10 families have been reported, carrying homozygous or compound heterozygous frameshift or nonsense variants in YY1AP1. In a patient with cutaneous and bone syndactyly and a hemorrhagic stroke at the age of 16 months, consistent with a clinical diagnosis of GRNG, we performed exome sequencing after negative array-CGH and congenital limb malformation panel results. Copy number variant analysis from exome data identified a homozygous intragenic out-of-frame deletion of 1.84 kb encompassing exons seven and eight of YY1AP1, confirming a molecular diagnosis of GRNG. Genetic counseling led to the identification of additional family members compatible with GRNG. Here, we provide new insights into the phenotypic variability associated with GRNG and highlight the utility of the detection of small copy number variants to identify the molecular causes of heterogeneous malformative genetic disorders.

Development strategy of seaweed innovation product and marketing at UTARI cooperative, Bulukumba regency

Bulukumba Regency is one of the centers for seaweed (Euchema cottonii) development commodities in South Sulawesi. Seaweed has benefits for humans, among others, can be used as food, drink and even medicine. Therefore, the main focus of innovation or the aim of this research is creating new ideas which in turn will be implemented into new products and new processes using technology. This research was conducted from May to July 2022 in Bulukumba Regency. The approach method used in This research was descriptive qualitative in nature, involving 15 members of UTARI cooperative that produced seaweed products. Seaweed innovation products produced include seaweed meatballs, brownies, seaweed dodol, seaweed candies and seaweed drinks. Marketing of seaweed products was still local, mostly purchased by neighbors and motorcycles/cars passing by. Inter-regional marketing has not been carried out go out. Average sales/day of 10 cups of seaweed meatballs for IDR 10,000 - 6 pcs of seaweed brownies for a price of IDR 30,000 - 10 bottles of seaweed drink for IDR 8,000 - 5 pcs of seaweed dodol for IDR 10,000, and seaweed candy 5 pcs for IDR 10,000. The strategies that can be carried out by the UTARI Cooperative to develop processed seaweed product innovations in Bulukumba are increasing collaboration between UTARI cooperatives and stakeholders, improving the marketing system through digital marketing (social media), recruiting additional employees or members of the UTARI cooperative, and making processed grass sea products as special souvenir products in Bulukumba.

The mobilization of nurse-client therapeutic relationships in injectable opioid agonist treatment: Autonomy, advocacy and action

IntroductionInjectable opioid agonist treatment (iOAT) is an evidence-based treatment that serves an important minority of people with opioid use disorder who require specialized care. Unique to iOAT care is the consistency with which clients access treatment (up to three times daily), a condition that creates repeated opportunities for health care engagement. To date, no study has examined therapeutic relationships in this life saving, nurse-led treatment that can have lasting implications in the equitable delivery of other forms of addictions care. MethodsThis study used grounded theory to generate a dynamic framework for therapeutic relationship building in iOAT. Researchers collected semi-structured interviews from registered nurses working in iOAT sites (n=24) form January 2020 through June 2022. The study analyzed collected data through a constant comparative analysis; explored through open, axial, and selective coding; and assessed in a conditional relationship matrix. The team reviewed key findings with stakeholders through formalized processes of engagement to confirm saturation of coding categories. Throughout data collection and analysis, researchers integrated feedback from additional knowledge users and member checking. Reported findings adhered to the COREQ1 standardized checklist. ResultsWe identified five interrelated categories that created a distinct culture of care for iOAT nurses: Ways of Knowing, Personal Investment, Leveraging Empathy, Finding Flexibility, and Collaborating to Overcome. Through creating a safe, nonjudgmental environment, nurses establish therapeutic relationships that build trust to identify client needs outside of medication administration. In turn, nurses participate in team-based problem solving to advocate for client needs. If nurses cannot find flexibility within and outside of the health care system to improve client engagement, tensions can arise and therapeutic relationships can be strained. ConclusionsTherapeutic relationships are an integral part of building and maintaining trust with a population that has been precariously involved with other forms of health care. Nurses make a substantial effort to create a safe and nonjudgmental environment to manifest a culture of care that bridges client needs and program access. Without the expansion of access to iOAT programs and their embedded services, nurses are limited in their ability to provide individualized care for clients with diverse needs.

Lack of cholinergic features in healthcare workers caring for a patient with organophosphate poisoning

Introduction Controversy exists with regard to risk of secondary exposure of health care workers caring for patients who have ingested an organophosphate insecticide. We aim to report clinical effects of staff members caring for an organophosphate poisoned patient. Incident A 76-year-old male presented to the Emergency Department exhibiting a cholinergic toxidrome requiring atropine, intubation and mechanical ventilation. Methods We undertook a retrospective chart review of any Emergency Department presentations for medical assessment in relation to the incident and conducted telephone interviews of any healthcare workers who did not present but were deemed to be closely involved with patient care. We collected data including age, gender, symptoms reported and plasma cholinesterase activity measurement. Results We collected data from 13 individuals, of whom nine presented for medical assessment, including the patient’s spouse. Five additional staff members were interviewed, having been identified via Emergency Department rostering documentation. The 13 healthcare workers comprised five nurses, four paramedics and four doctors. Dizziness and nausea were reported in two and the patient’s spouse reported one episode of vomiting. Of the nine patients who had plasma cholinesterase activity measured, none were below the laboratory reference range, including those who experienced symptoms. Conclusions We found no clinical nor biochemical evidence of toxicity in healthcare workers caring for a critically ill patient with organophosphate ingestion. These findings are consistent with previously published guidelines advocating standard/Level D personal protective equipment. We believe that emergency departments should not be closed as a safety measure.

FINITE ELEMENT ANALYSIS OF EXISTING RC BEAM-COLUMN JOINTS STRENGTHENED BY PRESS-JOINT WITH ADDITIONAL RC MEMBERS

Only a few specialized research studies and examples of seismic strengthening methods for beam-column joints in existing reinforced concrete (RC) buildings exist. In a previous study, we proposed a seismic strengthening method that press-joints additional RC members around existing steel-reinforced concrete (SRC) beam-column joints. This study used finite element analysis to investigate the reinforcement effect of the proposed seismic strengthening method on existing RC beam-column joints. Initially, finite element analysis was conducted to imitate the assembled test in which the RC beam-column joint was fractured. The model analysis results agreed well with the test results. For this existing RC beam-column joint model, three types of models with reinforcement methods as parameters were analyzed. The first type model press-joints additional RC members only in the in-plane direction. The second type model press-joints additional RC members in the in-plane and orthogonal directions. The third type model press-joints additional RC members in the in-plane direction, and the additional RC members and existing part are joined by post-installed anchors in the orthogonal direction. According to results, cracks at the existing RC beam-column joints were confirmed to be reduced in the strengthened models. The model that press-joints additional RC members in the in-plane and orthogonal directions most significantly reduced the minimum principal stress in existing RC beam-column joints the most.

Increasing number of long-lived ancestors marks a decade of healthspan extension and healthier metabolomics profiles

Globally, the lifespan of populations increases but the healthspan is lagging behind. Previous research showed that survival into extreme ages (longevity) clusters in families as illustrated by the increasing lifespan of study participants with each additional long-lived family member. Here we investigate whether the healthspan in such families follows a similar quantitative pattern using three-generational data from two databases, LLS (Netherlands), and SEDD (Sweden). We study healthspan in 2143 families containing index persons with 26 follow-up years and two ancestral generations, comprising 17,539 persons. Our results provide strong evidence that an increasing number of long-lived ancestors associates with up to a decade of healthspan extension. Further evidence indicates that members of long-lived families have a delayed onset of medication use, multimorbidity and, in mid-life, healthier metabolomic profiles than their partners. We conclude that both lifespan and healthspan are quantitatively linked to ancestral longevity, making family data invaluable to identify protective mechanisms of multimorbidity.

Microtubule-Associated Serine/Threonine (MAST) Kinases in Development and Disease.

Microtubule-Associated Serine/Threonine (MAST) kinases represent an evolutionary conserved branch of the AGC protein kinase superfamily in the kinome. Since the discovery of the founding member, MAST2, in 1993, three additional family members have been identified in mammals and found to be broadly expressed across various tissues, including the brain, heart, lung, liver, intestine and kidney. The study of MAST kinases is highly relevant for unraveling the molecular basis of a wide range of different human diseases, including breast and liver cancer, myeloma, inflammatory bowel disease, cystic fibrosis and various neuronal disorders. Despite several reports on potential substrates and binding partners of MAST kinases, the molecular mechanisms that would explain their involvement in human diseases remain rather obscure. This review will summarize data on the structure, biochemistry and cell and molecular biology of MAST kinases in the context of biomedical research as well as organismal model systems in order to provide a current profile of this field.

Establishing a Sequencing Method for the Whole Mitochondrial DNA of Domestic Dogs.

In human beings, whole mitochondrial DNA (mtDNA) sequencing has been widely used in many research fields, including medicine, forensics, and genetics. With respect to the domestic dog (Canis lupus familiaris), which is commonly recognized as being an additional member of the traditional human family structure, research studies on mtDNA should be developed to expand and improve our collective knowledge of dog medicine and welfare as it seems that there is still room for further development in these areas. Moreover, a simple and robust method for sequencing whole mtDNA that can be applied to various dog breeds has not yet been described in the literature. In the present study, we aim to establish such a method for the whole mtDNA sequencing of the domestic dog. In the experiments we conducted, oral mucosa DNA samples obtained from six Japanese domestic dogs were used as a template. We designed four primer pairs that could amplify approximately 5 kbp from each region of the mtDNA and validated several PCR conditions. Subsequently, the PCR amplicons were pooled and subjected to library preparation. The sequencing of the libraries was performed using next-generation sequencing (NGS), followed by bioinformatics analysis. Our results demonstrate that the proposed method can be used to perform highly accurate resequencing. We believe that this method may be useful for future research conducted to better understand dog medicine and welfare.

Cone dystrophy associated with autoimmune polyglandular syndrome type 1

To report the association of autoimmune polyglandular syndrome type 1 (APS1) with cone dystrophy in a large Saudi family. This is a Retrospective chart review and prospective genetic testing and ophthalmic examination of a large multiplex consanguineous family. Genetic testing was performed on 14 family members, seven of whom had detailed ophthalmic examinations. Medical history, ocular history and evaluation, visual field testing, full-field electroretinogram (ERG), and Whole Exome Sequencing (WES) results were analyzed. Three family members were homozygous for c.205_208dupCAGG;p.(Asp70Alafs*148) in AIRE and homozygous for c.481-1G>A in PDE6C. One additional family member was homozygous for only the AIRE variant and another additional family member was homozygous for only the PDE6C variant. All patients with homozygosity for the PDE6C variant had cone dystrophy, and all patients with homozygosity for the AIRE variant had APS1. In addition, two of the family members who were homozygous for the PDE6C and AIRE variants had reduced rod function on ERG. We report the co-inheritance for APS1 and PDE6C-related cone dystrophy, an unusual example of two seemingly independent recessive conditions coinciding within a family. Dual molecular diagnosis must be taken into account by ophthalmologists facing unusual constellations of findings, especially in consanguineous families.