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1.
BMC Public Health ; 23(1): 2482, 2023 12 12.
Artículo en Inglés | MEDLINE | ID: mdl-38082247

RESUMEN

The ability of the public to remain psychologically resilient in the face of public health emergencies and disasters (such as the COVID-19 pandemic) is a key factor in the effectiveness of a national response to such events. Community resilience and social capital are often perceived as beneficial and ensuring that a community is socially and psychologically resilient may aid emergency response and recovery. This review presents a synthesis of literature which answers the following research questions: How are community resilience and social capital quantified in research?; What is the impact of community resilience on mental wellbeing?; What is the impact of infectious disease outbreaks, disasters and emergencies on community resilience and social capital?; and, What types of interventions enhance community resilience and social capital?A scoping review procedure was followed. Searches were run across Medline, PsycInfo, and EMBASE, with search terms covering both community resilience and social capital, public health emergencies, and mental health. 26 papers met the inclusion criteria.The majority of retained papers originated in the USA, used a survey methodology to collect data, and involved a natural disaster. There was no common method for measuring community resilience or social capital. The association between community resilience and social capital with mental health was regarded as positive in most cases. However, we found that community resilience, and social capital, were initially negatively impacted by public health emergencies and enhanced by social group activities.Several key recommendations are proposed based on the outcomes from the review, which include: the need for a standardised and validated approach to measuring both community resilience and social capital; that there should be enhanced effort to improve preparedness to public health emergencies in communities by gauging current levels of community resilience and social capital; that community resilience and social capital should be bolstered if areas are at risk of disasters or public health emergencies; the need to ensure that suitable short-term support is provided to communities with high resilience in the immediate aftermath of a public health emergency or disaster; the importance of conducting robust evaluation of community resilience initiatives deployed during the COVID-19 pandemic.


Asunto(s)
COVID-19 , Desastres , Resiliencia Psicológica , Capital Social , Humanos , Salud Pública , Salud Mental , Urgencias Médicas , Pandemias , COVID-19/epidemiología
2.
Occup Med (Lond) ; 73(3): 133-137, 2023 04 26.
Artículo en Inglés | MEDLINE | ID: mdl-36170162

RESUMEN

BACKGROUND: Climate change can negatively affect mental health, and poor mental health can negatively affect work. However, less is known about the relationship between mental health and workplace behaviours within the climate change context. AIMS: To explore existing literature relating to climate-induced mental ill-health as a potential predictor of workplace behaviours. METHODS: Scoping review, searching five databases for relevant literature using two separate search strategies. RESULTS: Only five studies with any relevant data were found. Results could not be easily synthesized because each of the five considered different work-related outcomes. However, the available data suggest that the psychological impact of extreme events could lead to increased job tension, higher turnover intentions and workplace hostility. Stress about extreme weather could also impede the ability to make essential work-related decisions and, for those who work in the environmental sector, concerns about climate could lead to overcommitment to work. There was some evidence that social support might lessen the effects of climate-induced stress on work outcomes. CONCLUSIONS: Very little literature considers the impacts of climate change on employees' mental health and associated workplace function. The available evidence suggests there are potential negative impacts which may be mitigated by social support. It is important for future research to explore ways of supporting staff and fostering resilience.


Asunto(s)
Cambio Climático , Salud Mental , Humanos , Lugar de Trabajo/psicología , Reorganización del Personal , Apoyo Social
3.
Occup Med (Lond) ; 73(3): 155-160, 2023 04 26.
Artículo en Inglés | MEDLINE | ID: mdl-36893355

RESUMEN

BACKGROUND: Diplomatic personnel frequently relocate as part of their roles, requiring them to adapt to various cultural and political conditions; many are also at risk of experiencing trauma from being deployed to high-threat postings. With diplomatic personnel having to balance the usual pressures of their work with the uncertainties of COVID-19 in recent years, it is particularly important now to understand how to protect their mental health. AIMS: To synthesize existing literature on the well-being of diplomatic personnel to improve understanding of how to protect their mental health. METHODS: A scoping review was carried out to explore what is already known about the well-being of staff working in diplomatic roles. Four databases were searched and reference lists, as well as one key journal, were hand-searched. RESULTS: Fifteen relevant publications were included. There was little consensus as to how the psychological well-being of diplomatic personnel compares to other populations or which factors predict well-being. Diplomats' psychological responses to traumatic experiences appeared similar to those of other trauma-exposed occupational groups. CONCLUSIONS: Further research is needed to better understand the well-being of diplomatic personnel, particularly those not deployed to high-threat posts.


Asunto(s)
COVID-19 , Salud Mental , Humanos , Empleados de Gobierno , Personal de Salud/psicología
4.
Occup Med (Lond) ; 72(9): 636-640, 2022 12 31.
Artículo en Inglés | MEDLINE | ID: mdl-36315001

RESUMEN

BACKGROUND: Whilst the wellbeing of law enforcement personnel has been widely researched, border security personnel as a discrete group appear to be far less discussed, despite their roles frequently exposing them to potentially traumatic and challenging events such as contact with criminals or witnessing personal tragedies due to trafficking or smuggling. AIMS: This scoping review aimed to explore existing literature to better understand the mental health of border security personnel and the factors affecting their wellbeing. METHODS: Four electronic databases and grey literature were systematically searched for studies relevant to the review's aims. Following the extraction of relevant data from each study, thematic analysis was used to synthesize findings. RESULTS: Thirteen studies included relevant data and were included in the review, identifying stressors including poor management; fatigue; negative public attitudes; inadequate staffing levels, resources, and training; poor opportunities for promotion; low pay; work overload; dangerous working environments; and work-related moral dilemmas. CONCLUSIONS: The review found that there has been little academic attention paid to border security personnel as a specific branch of law enforcement. Many of the stressors identified in this review are those also reported by law enforcement generally, although negative attitudes from the public and exposure to moral dilemmas appear to be more relevant for border security staff. Directly addressing work-related stress (e.g. by fostering a supportive organizational culture, addressing mental health stigma, and encouraging help-seeking) may be useful in enhancing the resilience of border security personnel.


Asunto(s)
Salud Mental , Estrés Laboral , Humanos , Estrés Laboral/psicología , Recursos Humanos , Personal de Salud/psicología
5.
J Environ Manage ; 317: 115298, 2022 Sep 01.
Artículo en Inglés | MEDLINE | ID: mdl-35617858

RESUMEN

Murray cod Maccullochella peelii (Mitchell) have a key ecological role in ensuring the health of Australia's largest inland waterway, but many aspects surrounding its reproductive strategies in the wild are unknown. From 2015 to 2019 within the Northern Murray-Darling Basin, Australia, we used a combination of bio-telemetry and underwater imagery to quantify the behaviour of Murray cod across their breeding cycle in a natural riverine environment. In most years, breeding behaviour including nest site selection was observed from early-August and spawning from late-August through to late-October, which is considerably earlier than previously reported. There was a positive correlation between the onset of breeding behaviour and week-of-year, and spawning was correlated with moon-phase. Whilst some nesting sites were amongst woody debris and in hollow logs, the majority were located in shallow water on hard substrate underneath undercuts along the riverbank edge. Nests were frequently established in isolated and disconnected pools with little or no measurable flow, suggesting that river hydraulics is not a key component driving spawning of Murray cod across at least some areas of its range. Larvae were observed actively swimming and controlling their position within and near nests and used a scatter tactic when dispersing. We also established that disturbing nesting Murray cod had a negative impact on egg and larval survival. We suggest a review of current regulations to safeguard the long-term conservation of the species across all sections of its range.


Asunto(s)
Fitomejoramiento , Conducta Sexual Animal , Animales , Australia , Agua Dulce , Larva , Reproducción , Telemetría
6.
Am J Transplant ; 21(2): 626-635, 2021 02.
Artículo en Inglés | MEDLINE | ID: mdl-32558174

RESUMEN

We have previously described the use of sirolimus (SRL) as primary immunosuppression following heart transplantation (HT). The advantages of this approach include attenuation of cardiac allograft vasculopathy (CAV), improvement in glomerular filtration rate (GFR), and reduced malignancy. However, in some patients SRL may cause significant proteinuria. We sought to investigate the prognostic value of proteinuria after conversion to SRL. CAV progression and adverse clinical events were studied. CAV progression was assessed by measuring the Δ change in plaque volume (PV) and plaque index (PI) per year using coronary intravascular ultrasound. Proteinuria was defined as Δ urine protein ≥300 mg/24 h at 1 year after conversion to SRL. Overall, 137 patients were analyzed (26% with proteinuria). Patients with proteinuria had significantly lower GFR (P = .005) but similar GFR during follow-up. Delta PV (P < .001) and Δ PI (P = .001) were significantly higher among patients with proteinuria after adjustment for baseline characteristics. Multivariate Cox regression analysis showed higher all-cause mortality (hazard ratio 3.8; P = .01) with proteinuria but similar risk of CAV-related events (P = .61). Our results indicate that proteinuria is a marker of baseline renal dysfunction, and that HT recipients who develop proteinuria after conversion to SRL have less attenuation of CAV progression and higher mortality risk.


Asunto(s)
Trasplante de Corazón , Inmunosupresores , Aloinjertos , Trasplante de Corazón/efectos adversos , Humanos , Inmunosupresores/efectos adversos , Proteinuria , Serina-Treonina Quinasas TOR
7.
J Card Fail ; 27(11): 1231-1239, 2021 11.
Artículo en Inglés | MEDLINE | ID: mdl-34133968

RESUMEN

BACKGROUND: B-type natriuretic peptide (BNP) immunoassays (BNPia) do not differentiate active and inactive forms. Inactive NT-proBNP is used to track heart failure (HF) during treatment with sacubitril/valsartan, which inhibits BNP degradation. Mass spectrometry (MS) may better assess effects of HF treatment on biologically active BNP1-32. METHODS AND RESULTS: We developed a MS assay with immediate protease inhibition to quantify BNP1-32 over a linear range, using labeled recombinant BNP standard. In 4 healthy volunteers, BNP1-32 by MS (BNPMS) increased from below the 5 pg/mL detection limit to 228 pg/mL after nesiritide. In patients with HF, BNPMS was measured in parallel with BNP and NT-proBNP immunoassays before and during sacubitril/valsartan treatment. BNPMS was 4.4-fold lower than BNPia in patients with HF. Among patients not taking sacubitril/valsartan and without end-stage renal disease, BNPMS correlated with BNPia (rs = 0.77, P < .001) and NT-proBNP (rs = 0.74, P < .001). After a median of 8 weeks on sacubitril/valsartan, active BNPMS levels decreased by 50% (interquartile range -98.3% to 41.7%, n = 22, P = .048) and correlated with NT-proBNP (rs = 0.64, P < .001), but not with BNPia (rs = 0.46, P = .057). CONCLUSIONS: Active BNP measured by MS accounts for only a small amount of BNP measured by immunoassays. Although decreased BNP production was anticipated to be masked by inhibition of degradation, levels of active BNP decreased during chronic sacubitril/valsartan treatment.


Asunto(s)
Insuficiencia Cardíaca , Péptido Natriurético Encefálico , Aminobutiratos , Compuestos de Bifenilo , Insuficiencia Cardíaca/diagnóstico , Insuficiencia Cardíaca/tratamiento farmacológico , Humanos , Espectrometría de Masas , Valsartán
8.
J Card Fail ; 27(5): 542-551, 2021 05.
Artículo en Inglés | MEDLINE | ID: mdl-33962742

RESUMEN

BACKGROUND: Enhanced platelet reactivity may play a role in cardiac allograft vasculopathy (CAV) progression. The use of antiplatelet agents after heart transplantation (HT) has been inconsistent and although aspirin (ASA) is often a part of the medication regimen after HT, limited evidence is available on its benefit. METHODS AND RESULTS: CAV progression was assessed by measuring the difference in plaque volume and plaque index between the last follow-up and the baseline coronary intravascular ultrasound examination. Overall, 529 HT recipients were retrospectively analyzed (337 had ≥2 intravascular ultrasound studies). The progression in plaque volume (P = .007) and plaque index (P = .002) was significantly attenuated among patients treated with early ASA (within the first year after HT). Over a 6.7-year follow-up, all-cause mortality was lower with early ASA compared with late or no ASA use (P < .001). No cardiac deaths were observed in the early ASA group, and the risk of CAV-related graft dysfunction was significantly lower in this group (P = .03). However, the composite of all CAV-related events (cardiac death, CAV-related graft dysfunction, or coronary angioplasty) was not significantly different between the groups (P = .16). CONCLUSIONS: Early ASA use after HT may delay CAV progression and decrease mortality and CAV-related graft dysfunction, but does not seem to affect overall CAV-associated events.


Asunto(s)
Enfermedad de la Arteria Coronaria , Insuficiencia Cardíaca , Trasplante de Corazón , Aloinjertos , Aspirina/uso terapéutico , Angiografía Coronaria , Trasplante de Corazón/efectos adversos , Humanos , Estudios Retrospectivos
9.
Anim Genet ; 52(3): 304-310, 2021 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-33730759

RESUMEN

Arabian horses were selected for metabolic efficiency, beauty, efficiency and endurance. Therefore, Bedouins have for centuries traced their prized horses' ancestries. With the establishment of the World Arabian Horse Organization (WAHO), registration of Arabian horses became centralized and countries worldwide registered them in its database. Most existing Arabian horses in Oman today were imported after the 1970s and are predominantly flat-racing Arabians. This work aimed at revealing the genetic background and diversity of Omani Arabian horses by comparing them with Arabian horses from a diverse genetic background. To that end, we genotyped 63 randomly sampled Arabian horses from Oman using the Illumina Equine SNP70. For comparison, SNP genotypes of 12 Saudi Arabian horses, 27 French, 77 Egyptian, 11 Polish and 36 US Arabians were included in the study. We additionally included 17 Thoroughbred horses and 21 horses representing large and small breeds as an outgroup. Our MDS analysis and phylogenetic analysis showed that the Arabian horses in Oman cluster primarily with French Arabian horses, with a few horses clustering within the Polish/US Arabians. The French Arabian horse cluster was the closest to the Thoroughbred horses. Amongst the Arabian horses, plink average genomic inbreeding levels were highest in the Egyptian Arabian (0.169) followed by the Saudi Arabian horses (0.137) and lowest in the Omani and French Arabian horses, -0.041 and -0.079 respectively. To our knowledge, this is the first report on the genetic background and diversity of Arabian horses in Oman. Our results demonstrated a definite subpopulation structure among Arabian horses and this information should advise future decision-making on Arabian horse breeding.


Asunto(s)
Variación Genética , Genética de Población , Caballos/genética , Animales , Cruzamiento , Femenino , Genotipo , Endogamia , Masculino , Omán , Filogenia
10.
Gynecol Endocrinol ; 37(6): 511-514, 2021 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-32603200

RESUMEN

RESULTS: AMH results were pooled and a table with 2.5 and 97.5 percentiles for each age group constructed. Based on Youden index, the optimal cut off for low responders (0-3 eggs), was 5.5 pmol/l (87% sensitivity, 55% specificity) and for high responders (>15 eggs) 15.6 pmol/l (78% sensitivity, 57% specificity). AMH correlated with number of eggs collected (r = 0.48) and clinical pregnancies (r = 0.14), (p < .0001). CONCLUSIONS: The table of AMH levels measured using the Access 2 fully automated immunoassay system according to age may be used as a reference and cutoff levels for high and poor responders are clearly defined to help tailor controlled ovarian stimulation, maximizing efficiency and ensuring patient safety. The use of a random access automated immunoassay system means that blood sampled on arrival can produce an AMH result in 40 mins by the time the subject enters the doctor's clinic together with other relevant endocrine markers.


Asunto(s)
Hormona Antimülleriana/sangre , Análisis Químico de la Sangre , Adulto , Envejecimiento/fisiología , Hormona Antimülleriana/análisis , Hormona Antimülleriana/normas , Automatización de Laboratorios , Análisis Químico de la Sangre/instrumentación , Análisis Químico de la Sangre/métodos , Análisis Químico de la Sangre/normas , Femenino , Fertilización In Vitro/métodos , Hormona Folículo Estimulante/sangre , Humanos , Inmunoensayo/instrumentación , Inmunoensayo/métodos , Inmunoensayo/normas , Persona de Mediana Edad , Recuperación del Oocito/métodos , Recuperación del Oocito/normas , Reserva Ovárica/fisiología , Inducción de la Ovulación/métodos , Inducción de la Ovulación/normas , Embarazo , Índice de Embarazo , Valores de Referencia , Estudios Retrospectivos , Adulto Joven
11.
Public Health ; 199: 77-86, 2021 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-34571441

RESUMEN

OBJECTIVES: The COVID-19 pandemic caused countries across the globe to impose restrictions to slow the spread of the virus, with people instructed to stay at home and reduce contact with others. This reduction in social contact has the potential to negatively impact mental health and well-being. The restrictions are particularly concerning for people with existing chronic illnesses such as Parkinson's disease, who may be especially affected by concerns about the pandemic and associated reduction of social contact. The aim of this review was to synthesise published literature on the impact of the COVID-19 pandemic on the social and psychological well-being of people with Parkinson's disease. STUDY DESIGN: The design of this study is a scoping review. METHODS: We searched five electronic databases for English language articles containing primary data on this topic. RESULTS: Thirty-one relevant studies were found and included in the review. Six main themes were identified: impact of the pandemic on physical and mental health; COVID-19 concerns; access to health care; impact on daily and social activities; impact on physical activity and impact on caregivers. Levels of perceived risk of COVID-19 differed across studies, but most participants had adopted preventive measures such as staying at home and reducing social contacts. Participants in many studies reported a discontinuation of regular healthcare appointments and physiotherapy, as well as concerns about being able to obtain medication. Loss of daily activities and social support was noted by many participants. There was mixed evidence on the impact of the pandemic on physical exercise, with some studies finding no change in physical activity and others reporting a reduction; generally, participants with reduced physical activity had poorer mental health and greater worsening of symptoms. Caregivers of people with Parkinson's disease were more likely to be negatively affected by the pandemic if they cared for people with complex needs such as additional mental health problems. CONCLUSIONS: The COVID-19 pandemic has had negative effects on the physical and mental health of people with Parkinson's disease, perhaps due to disruption of healthcare services, loss of usual activities and supports and reduction in physical activity. We make recommendations for policy, practice and future research.


Asunto(s)
COVID-19 , Enfermedad de Parkinson , Humanos , Salud Mental , Pandemias , Enfermedad de Parkinson/epidemiología , SARS-CoV-2
12.
Phys Rev Lett ; 125(4): 044803, 2020 Jul 24.
Artículo en Inglés | MEDLINE | ID: mdl-32794783

RESUMEN

Energy recovery has been achieved in a multipass linear accelerator, demonstrating a technology for more compact particle accelerators operating at higher currents and reduced energy consumption. Energy delivered to the beam during the first four passes through the accelerating structure was recovered during four subsequent decelerating passes. High-energy efficiency was achieved by the use of superconducting accelerating cavities and permanent magnets. The fixed-field alternating-gradient optical system used for the return loop successfully transported electron bunches of 42, 78, 114, and 150 MeV in a common vacuum chamber. This new kind of accelerator, an eight-pass energy recovery linac, has the potential to accelerate much higher current than existing linear accelerators while maintaining small beam dimensions and consuming much less energy per electron.

13.
Anim Genet ; 51(5): 707-715, 2020 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-32686191

RESUMEN

The American Paint Horse Association (APHA) records pedigree and performance information for their breed, a stock-type horse valued as a working farm or ranch horse and as a pleasure horse. As the name implies, the breed is also valued for its attractive white-spotting patterns on the coat. The APHA utilizes visual inspections of photographs to determine if coat spotting exceeds threshold anatomical landmarks considered characteristic of desirable patterns. Horses with sufficient white patterning enter the 'Regular' registry, rather than the 'Solid Paint-Bred' division, providing a threshold modeled phenotype. Genetic studies previously defined sequence variants corresponding to 35 alleles for white spotting in the horse. Here, we calculate the allele frequencies for nine common white-spotting alleles in the American Paint Horse using a sample of 1054 registered animals. The APHA spotting phenotype is altered by additive interactions among spotting loci, and epistatically by the MC1R and ASIP genes controlling pigment production. The W20 allele within the KIT gene, independent of other known spotting alleles, was strongly associated with the APHA-defined white-spotting phenotype (P = 1.86 × 10-18 ), refuting reports that W20 acts only as a modifier of other underlying white-spotting patterns. The parentage of an individual horse, either American Paint or American Quarter Horse, did not alter the likelihood of its entering the APHA Regular Registry. An empirical definition of the action of these genetic loci on the APHA-defined white-spotting phenotype will allow more accurate application of genome-assisted selection for improving color production and the marketability of APHA horses.


Asunto(s)
Frecuencia de los Genes/fisiología , Color del Cabello/genética , Caballos/fisiología , Alelos , Animales , Femenino , Caballos/genética , Masculino , Fenotipo
14.
Public Health ; 189: 26-36, 2020 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-33142123

RESUMEN

OBJECTIVES: Infectious disease outbreaks can be distressing for everyone, especially those deemed to be particularly vulnerable such as pregnant women, who have been named a high-risk group in the current COVID-19 pandemic. This paper aimed to summarise existing literature on the psychological impact of infectious disease outbreaks on women who were pregnant at the time of the outbreak. STUDY DESIGN: The design of this study is a rapid review. METHODS: Five databases were searched for relevant literature, and main findings were extracted. RESULTS: Thirteen articles were included in the review. The following themes were identified: negative emotional states; living with uncertainty; concerns about infection; concerns about and uptake of prophylaxis or treatment; disrupted routines; non-pharmaceutical protective behaviours; social support; financial and occupational concerns; disrupted expectations of birth, prenatal care and postnatal care and sources of information. CONCLUSIONS: Pregnant women have unique needs during infectious disease outbreaks and could benefit from up-to-date, consistent information and guidance; appropriate support and advice from healthcare professionals, particularly with regards to the risks and benefits of prophylaxis and treatment; virtual support groups and designating locations or staff specifically for pregnant women.


Asunto(s)
COVID-19/epidemiología , COVID-19/psicología , Brotes de Enfermedades , Mujeres Embarazadas/psicología , SARS-CoV-2 , Adulto , Femenino , Personal de Salud/psicología , Humanos , Embarazo , Atención Prenatal , Apoyo Social
15.
Public Health ; 182: 163-169, 2020 May.
Artículo en Inglés | MEDLINE | ID: mdl-32334182

RESUMEN

OBJECTIVES: The December 2019 outbreak of coronavirus has once again thrown the vexed issue of quarantine into the spotlight, with many countries asking their citizens to 'self-isolate' if they have potentially come into contact with the infection. However, adhering to quarantine is difficult. Decisions on how to apply quarantine should be based on the best available evidence to increase the likelihood of people adhering to protocols. We conducted a rapid review to identify factors associated with adherence to quarantine during infectious disease outbreaks. STUDY DESIGN: The study design is a rapid evidence review. METHODS: We searched Medline, PsycINFO and Web of Science for published literature on the reasons for and factors associated with adherence to quarantine during an infectious disease outbreak. RESULTS: We found 3163 articles and included 14 in the review. Adherence to quarantine ranged from as little as 0 up to 92.8%. The main factors which influenced or were associated with adherence decisions were the knowledge people had about the disease and quarantine procedure, social norms, perceived benefits of quarantine and perceived risk of the disease, as well as practical issues such as running out of supplies or the financial consequences of being out of work. CONCLUSIONS: People vary in their adherence to quarantine during infectious disease outbreaks. To improve this, public health officials should provide a timely, clear rationale for quarantine and information about protocols; emphasise social norms to encourage this altruistic behaviour; increase the perceived benefit that engaging in quarantine will have on public health; and ensure that sufficient supplies of food, medication and other essentials are provided.


Asunto(s)
Infecciones por Coronavirus/prevención & control , Brotes de Enfermedades , Adhesión a Directriz , Conocimientos, Actitudes y Práctica en Salud , Neumonía Viral/prevención & control , Cuarentena/psicología , COVID-19 , Infecciones por Coronavirus/epidemiología , Infecciones por Coronavirus/psicología , Cultura , Humanos , Pandemias , Neumonía Viral/epidemiología , Neumonía Viral/psicología , Salud Pública , Normas Sociales , Factores Sociológicos , Factores de Tiempo
16.
Anim Genet ; 50(5): 493-500, 2019 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-31297861

RESUMEN

The alpaca classic grey phenotype is of particular interest to the industry. Until now, there were only indirect data suggesting that the KIT gene was involved in the classic grey phenotype. All exons of KIT in three black and three classic silvergrey alpacas were sequenced. Five non-synonymous SNPs were observed. There was only one SNP found that was present only in the silvergrey alpacas, and this was also the only SNP predicted to be damaging. This variant results in a change of a glycine (Gly) to an arginine (Arg) at amino acid position 126 (c.376G>A), occurring in the second Ig-like domain of the extracellular domain of KIT. Basic protein modelling predicted that this variant is likely destabilising. Therefore, an additional 488 alpacas were genotyped for this SNP using the tetra-primer amplification refractory mutation system PCR (Tetra-primer ARMS-PCR). All classic grey alpacas were observed to be heterozygous, and 99.3% of non-grey dark base colour alpacas were found to be homozygous for the wildtype allele in this position. These results confirm that the classic grey phenotype in alpacas is the result of a c.376G>A (p.Gly126Arg) SNP in exon 3 of KIT. These data also support the hypothesis that the grey phenotype is autosomal dominant and that the mutation is most likely homozygous lethal.


Asunto(s)
Camélidos del Nuevo Mundo/genética , Camélidos del Nuevo Mundo/fisiología , Pigmentación , Proteínas Proto-Oncogénicas c-kit/genética , Sustitución de Aminoácidos , Animales , Exones , Polimorfismo de Nucleótido Simple , Proteínas Proto-Oncogénicas c-kit/química
17.
Anim Genet ; 50(2): 172-174, 2019 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-30644113

RESUMEN

White spotting phenotypes in horses are highly valued in some breeds. They are quite variable and may range from the common white markings up to completely white horses. EDNRB, KIT, MITF, PAX3 and TRPM1 represent known candidate genes for white spotting phenotypes in horses. For the present study, we investigated an American Paint Horse family segregating a phenotype involving white spotting and blue eyes. Six of eight horses with the white-spotting phenotype were deaf. We obtained whole-genome sequence data from an affected horse and specifically searched for structural variants in the known candidate genes. This analysis revealed a heterozygous ~63-kb deletion spanning exons 6-9 of the MITF gene (chr16:21 503 211-21 566 617). We confirmed the breakpoints of the deletion by PCR and Sanger sequencing. PCR-based genotyping revealed that all eight available affected horses from the family carried the deletion. The finding of an MITF variant fits well with the syndromic phenotype involving both depigmentation and an increased risk for deafness and corresponds to human Waardenburg syndrome type 2A. Our findings will enable more precise genetic testing for depigmentation phenotypes in horses.


Asunto(s)
Sordera/veterinaria , Eliminación de Gen , Enfermedades de los Caballos/genética , Caballos/genética , Factor de Transcripción Asociado a Microftalmía/genética , Animales , Color , Sordera/genética , Femenino , Masculino , Factor de Transcripción Asociado a Microftalmía/metabolismo , Pigmentación/genética , Factores de Riesgo , Secuenciación Completa del Genoma/veterinaria
18.
Anim Genet ; 50(3): 271-274, 2019 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-31006892

RESUMEN

Variations in the SLC45A2 gene are responsible for the dilution phenotypes cream and pearl in domestic horses. Cream dilution is inherited in an incomplete dominant manner, diluting only red in the heterozygous state but both red and black pigments when two alleles are present. The pearl dilution is recessive and dilutes only the red and black pigment in the homozygous state or when paired with a cream allele. Horses that inherit one copy of pearl (Cprl ) and one copy of the dominant cream allele (CC r ) display a dilution phenotype similar to that of homozygous cream, suggesting that pearl is the result of a different variation in the same gene responsible for cream. We sequenced SLC45A2 in two 'false double dilute' horses that appeared phenotypically homozygous cream but tested as possessing only a single CC r allele. We also sequenced one known pearl carrier to screen for putative causal variants. The missense variant ECA21:SLC45A2:c.985G>A; p.Ala329Thr (Cprl ) was present in one false double dilute and the pearl carrier and was also genotyped in an additional 126 horses for statistical evaluation. The genotype matched the expected phenotype in all horses (P-value = 6.5 × 10-41 ) and is identical to a pearl variant found previously. The second false double dilute horse and one non-dilute offspring genotyped as heterozygous for a novel missense variant ECA21:SLC45A2:c.568G>A (p.Gly190Arg), the proposed Csun variant (for the name of the horse). This variant produces a recessive dilution similar to pearl and indicates that multiple alleles of SLC45A2 result in dilution phenotypes in the domestic horse.


Asunto(s)
Color del Cabello , Caballos/genética , Proteínas de Transporte de Membrana/genética , Animales , Heterocigoto , Pigmentación
19.
J Anat ; 232(6): 1025-1030, 2018 06.
Artículo en Inglés | MEDLINE | ID: mdl-29520782

RESUMEN

Current tissue-clearing protocols for imaging in three dimensions (3D) are typically applied to optimally fixed, small-volume rodent brain tissue - which is not representative of the tissue found in diagnostic neuropathology laboratories. We present a method to visualise the cerebral cortical vasculature in 3D in human post-mortem brain tissue which had been preserved in formalin for many years. Tissue blocks of cerebral cortex from two control cases, two Alzheimer's brains and two cases from Alzheimer's patients immunised against Aß42 were stained with fluorescent Lycopersicon esculentum agglutinin (Tomato lectin), dehydrated and cleared using an adapted three-dimensional imaging of solvent cleared organs (3DISCO) protocol to visualise the vascular endothelium. Tissue was imaged using light sheet and confocal microscopy and reconstructed in 3D using amira software. The method permits visualisation of the arrangement of the parallel penetrating cortical vasculature in the human brain. The presence of four vascular features including anastomosis, U-shaped vessels, spiralling and loops were revealed. In summary, we present a low cost and simple method to visualise the human cerebral vasculature in 3D compatible with prolonged fixation times (years), allowing study of vascular involvement in a range of normative and pathological states.


Asunto(s)
Corteza Cerebral/irrigación sanguínea , Circulación Cerebrovascular , Técnicas de Preparación Histocitológica , Imagenología Tridimensional/métodos , Anciano , Anciano de 80 o más Años , Femenino , Humanos , Masculino
20.
Clin Radiol ; 73(9): 782-791, 2018 09.
Artículo en Inglés | MEDLINE | ID: mdl-29801658

RESUMEN

AIM: To identify combined positron-emission tomography (PET)/magnetic resonance imaging (MRI)-based radiomics as a surrogate biomarker of intratumour disease risk for molecular subtype ccA and ccB in patients with primary clear cell renal cell carcinoma (ccRCC). MATERIALS AND METHODS: PET/MRI data were analysed retrospectively from eight patients. One hundred and sixty-eight radiomics features for each tumour sampling based on the regionally sampled tumours with 23 specimens were extracted. Sparse partial least squares discriminant analysis (SPLS-DA) was applied to feature screening on high-throughput radiomics features and project the selected features to low-dimensional intrinsic latent components as radiomics signatures. In addition, multilevel omics datasets were leveraged to explore the complementing information and elevate the discriminative ability. RESULTS: The correct classification rate (CCR) for molecular subtype classification by SPLS-DA using only radiomics features was 86.96% with permutation test p=7×10-4. When multi-omics datasets including mRNA, microvascular density, and clinical parameters from each specimen were combined with radiomics features to refine the model of SPLS-DA, the best CCR was 95.65% with permutation test, p<10-4; however, even in the case of generating the classification based on transcription features, which is the reference standard, there is roughly 10% classification ambiguity. Thus, this classification level (86.96-95.65%) of the proposed method represents the discriminating level that is consistent with reality. CONCLUSION: Featured with high accuracy, an integrated multi-omics model of PET/MRI-based radiomics could be the first non-invasive investigation for disease risk stratification and guidance of treatment in patients with primary ccRCC.


Asunto(s)
Carcinoma de Células Renales/diagnóstico por imagen , Carcinoma de Células Renales/patología , Neoplasias Renales/diagnóstico por imagen , Neoplasias Renales/patología , Imagen Multimodal , Biomarcadores de Tumor , Medios de Contraste , Humanos , Imagenología Tridimensional , Imagen por Resonancia Magnética , Clasificación del Tumor , Estadificación de Neoplasias , Tomografía de Emisión de Positrones , Estudios Retrospectivos
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