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OBJECTIVES: The increased frequency and severity of extreme weather events (EWEs) have underscored the need to strengthen climate-resilient health systems and capacity. Community health workers (CHWs) are integral health systems actors with the potential to protect and improve population health in a changing climate. The aim of this review was to synthesize the literature on the roles of CHWs amid EWEs in low- and middle-income countries, the barriers and facilitators to implement these roles, and program supports to strengthen CHW capacity and health system functions. STUDY DESIGN: Scoping review. METHODS: Four academic databases and gray literature published between January 2000 and June 2023 were searched. Data were thematically analyzed using a deductive-inductive approach guided by the World Health Organization's (WHO's) Operational framework for building climate-resilient health systems. RESULTS: Thirty sources were included. Amid EWEs, CHW roles included: 1) delivery of diagnostic, treatment, and other clinical services; 2) support with access, utilization, or navigation of health services and/or referrals; 3) community education and health promotion; 4) data collection and health surveillance; 5) psychosocial supports; and 6) weather-related health emergency response. Facilitators and barriers to the provision of CHW supports amid EWEs were categorized within WHO's building blocks of health systems. Considerations for strengthening CHW programs to enhance climate-resilient health systems are also discussed. CONCLUSIONS: CHWs are uniquely positioned to provide health-related supports amid EWEs that extend to emergency preparedness and response to climate-health challenges. These efforts can contribute to the community and health systems resilience to climate change.
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PURPOSE: To report the 2-year follow-up of patients with mild-to-moderate knee osteoarthritis (OA) treated with genicular artery embolisation (GAE) as part of the GENESIS study. MATERIALS AND METHODS: Forty-six patients, median age = 60 (45-83) underwent GAE using permanent microspheres (100-300 µm). Technical success was defined as embolisation of the targeted genicular arteries. Knee Injury and Osteoarthritis Outcome Score (KOOS) and Visual Analogue Scale (VAS) (0-100 mm) were recorded at baseline, 6 weeks, 3 months, 1, 2 years. Contrast-enhanced MRI knee scans were acquired at baseline and 1 year, and evaluated with the Whole-Organ Magnetic Resonance Imaging Score (WORMS). Functional MRI brain imaging and psychometric assessments were undertaken to investigate correlation between neuropsychological phenotypes and clinical outcome. Adverse events were recorded prospectively. RESULTS: Technical success was achieved in forty patients (87%). Mean VAS improved from 58.63 (SD = 20.57, 95% CI 52.7-65.5) at baselines to 37.7 at 2-years (SD = 26.3, 95% CI 27.0-47.5). Whole and subgroup KOOS were significantly improved at each timepoint with associated reductions in analgesia usage. WORMS analysis demonstrated significant reduction in synovitis (p < 0.05) with no cases of osteonecrosis. Self-limiting skin discolouration occurred in four patients. A self-limiting groin haematoma and single case of deep-vein thrombosis due to immobilisation were also recorded. Nine patients subsequently underwent knee arthroplasty with no additional operational complexities identified. Neuropsychometric assessment elucidated a correlation between baseline catastrophising and greater reduction in pain post GAE. CONCLUSION: GAE is a safe intervention for mild-moderate knee osteoarthritis, with sustained efficacy at 2 years. These results are promising and justify ongoing controlled trials.
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Inadequate sleep is an on-going risk to the health and mission readiness of U.S. Armed Forces, with estimates of sleep problems high above U.S. civilian populations. Intervening early in the career of active duty Air Force personnel (or "Airmen") with education and the establishment of healthy behaviors may prevent short and long term-detriments of sleep problems. This paper describes the results of a qualitative study seeking to understand the facilitators and barriers to achieving good sleep in a technical training school during the first year of entry into the United States Air Force. Using the social ecological framework and content analysis, three focus groups with Airmen were conducted to explore themes at the individual, social, environmental, and organizational/policy level. Overall, results indicated a cohort motivated to achieve good sleep, and also struggling with a number of barriers across each level. This paper highlights opportunities for population health interventions during technical training aimed at supporting Airmen in developing healthy sleep behaviors early in the course of their career.
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Personal Militar , Sueño , Humanos , Personal Militar/educación , Personal Militar/psicología , Sueño/fisiología , Masculino , Adulto , Grupos Focales , Adulto Joven , Investigación Cualitativa , Femenino , Estados Unidos , Conductas Relacionadas con la Salud , Medio SocialRESUMEN
INTRODUCTION: Unlike other U.S. geographical regions, cigarette smoking prevalence remains stagnant in rural Appalachia. One avenue for reaching rural residents with evidence-based smoking cessation treatments could be utilizing community pharmacists. This paper describes the design, rationale, and analysis plan for a mixed-method study that will determine combinations of cessation treatment components that can be integrated within community pharmacies in rural Appalachia. The aim is to quantify the individual and synergistic effects of five highly disseminable and sustainable cessation components in a factorial experiment. METHODS: This sequential, mixed-method research design, based on the RE-AIM (Reach, Effectiveness, Adoption, Implementation, and Maintenance) framework, will use a randomized controlled trial with a 25 fully crossed factorial design (32 treatment combinations) to test, alone and in combination, the most effective evidence-based cessation components: (1) QuitAid (yes vs. no) (2) tobacco quit line (yes vs. no) (3) SmokefreeTXT (yes vs. no) (4) combination NRT lozenge + NRT patch (vs. NRT patch alone), and (5) eight weeks of NRT (vs. standard four weeks). RESULTS: Logistic regression will model abstinence at six-months, including indicators for the five treatment factors and all two-way interactions between the treatment factors. Demographic and smoking history variables will be considered to assess potential effect modification. Poisson regression will model quit attempts and percent of adherence to treatment components as secondary outcomes. CONCLUSION: This study will provide foundational evidence on how community pharmacies in medically underserved, rural regions can be leveraged to increase utilization of existing evidence-based tobacco cessation resources for treating tobacco dependence. CLINICAL TRIALS: NCT05660525.
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Fumar Cigarrillos , Farmacia , Cese del Hábito de Fumar , Humanos , Adulto , Nicotina/uso terapéutico , Cese del Hábito de Fumar/métodos , Dispositivos para Dejar de Fumar TabacoRESUMEN
Excessive negative energy balance in early lactation is linked to an increased disease risk but may be mitigated by appropriate nutrition. The liver plays central roles in both metabolism and immunity. Hepatic transcriptomic profiles were compared between 3 dietary groups in each of 40 multiparous and 18 primiparous Holstein-Friesian cows offered isonitrogenous grass silage-based diets with different proportions of concentrates: (1) low concentrate (LC, 30% concentrate + 70% grass silage); (2) medium concentrate (MC, 50% concentrate + 50% grass silage), or (3) high concentrate (HC, 70% concentrate + 30% grass silage). Liver biopsies were taken from all cows at around 14 d in milk for RNA sequencing, and blood metabolites were measured. The sequencing data were analyzed separately for primiparous and multiparous cows using CLC Genomics Workbench V21 (Qiagen Digital Insights), focusing on comparisons between HC and LC groups. More differentially expressed genes (DEG) were seen between the primiparous cows receiving HC versus LC diets than for multiparous cows (597 vs. 497), with only 73 in common, indicating differential dietary responses. Multiparous cows receiving the HC diet had significantly higher circulating glucose and insulin-like growth factor-1 and lower urea than those receiving the LC diet. In response to HC, only the multiparous cows produced more milk. In these animals, bioinformatic analysis indicated expression changes in genes regulating fatty acid metabolism and biosynthesis (e.g., ACACA, ELOVL6, FADS2), increased cholesterol biosynthesis (e.g., CYP7A1, FDPS, HMGCR), downregulation in hepatic AA synthesis (e.g., GPT, GCLC, PSPH, SHMT2), and decreased expression of acute phase proteins (e.g., HP, LBP, SAA2). The primiparous cows on the HC diet also downregulated genes controlling AA metabolism and synthesis (e.g., CTH, GCLC, GOT1, ODC1, SHMT2) but showed higher expression of genes indicative of inflammation (e.g., CCDC80, IL1B, S100A8) and fibrosis (e.g., LOX, LUM, PLOD2). This potentially adverse response to a HC diet in physically immature animals warrants further investigation.
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Poaceae , Ensilaje , Femenino , Bovinos , Animales , Ensilaje/análisis , Transcriptoma , Lactancia/fisiología , Dieta/veterinaria , Leche/metabolismo , HígadoRESUMEN
Painful articular musculoskeletal (MSK) conditions are common, debilitating and sometimes difficult to treat. Transcatheter embolisation may offer an alternative way to manage the pain associated with these conditions, but the field is still in its infancy. To date, the most commonly studied indication is knee osteoarthritis, but the technique has been trailed in multiple other tissue beds, including for adhesive capsulitis and tendinopathies. Whilst early results appear promising, the existing studies are mostly open-labelled and non-randomised; there is a need for high-quality evidence to robustly assess the procedures efficacy. In this review, we set out to evaluate the current evidence underlying the pathophysiology and mechanism of action of embolisation; discuss the technical aspects of the procedure including embolic selection, and appraise the published clinical outcomes and adverse effects. Finally, we discuss the future directions and research priorities in this rapidly developing field.
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Bursitis , Embolización Terapéutica , Osteoartritis de la Rodilla , Humanos , DolorRESUMEN
The question of whether there are excess radiation-associated health risks at low dose is controversial. We present evidence of excess cancer risks in a number of (largely pediatrically or in utero exposed) groups exposed to low doses of radiation (<0.1 Gy). Moreover, the available data on biological mechanisms do not provide support for the idea of a low-dose threshold or hormesis for any of these endpoints. There are emerging data suggesting risks of cardiovascular disease and cataract at low doses, but this is less well established. This large body of evidence does not suggest and, indeed, is not statistically compatible with any very large threshold in dose (>10 mGy), or with possible beneficial effects from exposures. The presented data suggest that exposure to low-dose radiation causes excess cancer risks and quite possibly also excess risks of various non-cancer endpoints.
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INTRODUCTION: Differential attainment (DA) is the gap in levels of achievement between different groups; socioeconomic factors are thought to play a significant role in DA. The aim of this study was to review and assess the evidence for DA in early surgical training and to examine the potential influence of socioeconomic status. METHODS: Data were obtained from the General Medical Council GMC for those taking Membership of the Royal College of Surgeons (MRCS) examinations between 2016 and 2019 and core surgical training annual review of competency progression (ARCP) outcomes between 2017 and 2019. The index of multiple deprivation (IMD) was used as a measure of socioeconomic background. Trainees were then divided into deprivation quintiles (DQ1=most deprived, DQ5=least deprived). MRCS and ARCP outcomes were compared between DQ groups using 95% confidence intervals and chi-square tests. RESULTS: Those from lower socioeconomic backgrounds had significantly lower overall MRCS pass rates (DQ1=45.5%, DQ2=48.9% vs DQ4=59.6%, DQ5=61.5%, p<0.05) and 1st time pass rates (DQ1&2=46.6% vs DQ4&5=63.5%, p<0.001). Additionally, they had a significantly higher number of attempts required to pass MRCS (DQ 1&2=1.86 vs DQ 4&5=1.54, p<0.01). Those from lower socioeconomic backgrounds had a significantly greater proportion of unsatisfactory ARCP outcomes (DQ1&2=24.4% vs DQ 4&5=14.2%, p<0.05). CONCLUSIONS: There is clear evidence of the influence of socioeconomic background on DA in early surgical training. However, the reasons for this are likely complex and more work is required to investigate this relationship.
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Competencia Clínica , Cirujanos , Evaluación Educacional , Humanos , Factores Socioeconómicos , Cirujanos/educaciónRESUMEN
BACKGROUND: Anxiety and depression in patients with cancer is associated with decreased quality of life and increased morbidity and mortality. However, these are often overlooked and untreated. Early-phase clinical trials (EPCTs) recruit patients with advanced cancers who frequently lack future treatment options, which may lead to increased anxiety and depression. Despite this, EPCTs do not routinely consider psychological screening for patients. PATIENTS AND METHODS: This prospective observational study explored levels of anxiety and depression alongside impact of trial participation in the context of EPCTs. The Hospital Anxiety and Depression Scale and the Brief Illness Perceptions Questionnaire were completed at the point of EPCT consent, the end of screening and at pre-specified time points thereafter. RESULTS: Sixty-four patients (median age 56 years; median Eastern Cooperative Oncology Group performance status 1) were recruited. At consent, 57 patients returned questionnaires; 39% reported clinically relevant levels of anxiety whilst 18% reported clinically relevant levels of depression. Sixty-three percent of patients experiencing psychological distress had never previously reported this. Males were more likely to be depressed (P = 0.037) and females were more likely to be anxious (P = 0.011). Changes in anxiety or depression were observed after trial enrolment on an individual level, but not significant on a population level. CONCLUSIONS: Patients on EPCTs are at an increased risk of anxiety and depression but may not seek relevant support. Sites offering EPCTs should consider including psychological screening to encourage a more holistic approach to cancer care and consider the sex of individuals when tailoring psychological support to meet specific needs.
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Depresión , Neoplasias , Masculino , Femenino , Humanos , Persona de Mediana Edad , Depresión/etiología , Depresión/diagnóstico , Depresión/epidemiología , Calidad de Vida , Ansiedad/etiología , Encuestas y Cuestionarios , Neoplasias/terapiaRESUMEN
Presentation We present the case of a 48-year-old man with nasal cellulitis and subsequent oro-naso-sino-orbital-cutaneous fistula from prolonged cocaine use. Diagnosis Initial laboratory investigations reported a raised white cell count (WBC) and C-Reactive Protein (CRP) and subsequently a positive atypical anti-neutrophil cytoplasm antibodies (ANCA) and positive anti-proteinase (PR3). Perihilar lung nodularity on chest imaging raised the possibility of a systemic autoimmune response. His urinalysis was positive for cocaine. Treatment He was commenced on Augmentin, Amphotericin B and Prednisolone. An obturator was created to manage the oro-nasal fistula. A subsequent naso-cutaneous defect was re-approximated. Daily nasal saline douche and abstinence of cocaine were recommended. Discussion Cocaine use in the community is rising and poses a challenge to multiple facets of our health care system.
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Trastornos Relacionados con Cocaína , Cocaína , Fístula Cutánea , Autoinmunidad , Cocaína/efectos adversos , Trastornos Relacionados con Cocaína/complicaciones , Fístula Cutánea/etiología , Humanos , Masculino , Persona de Mediana EdadRESUMEN
OBJECTIVE: To describe the status and results of thyroid disease screening and assessment of reliability of radiationthyroid doses in the Belarusian in utero cohort of 2,965 individuals exposed to Chernobyl (Chornobyl) fallout. MATERIALS AND METHODS: Thyroid screening examinations are currently underway including thyroid palpation by anendocrinologist, ultrasonographic examination by an ultrasonographer and analysis of blood samples for diagnosisof hypo- and hyperthyroidism, autoimmune thyroiditis, thyroid function tests (thyroid-stimulating hormone [TSH],thyroxine [T4], thyroid peroxidase antibody [anti-TPO], and thyroglobulin antibodies [anti-TG]). Reliability of (i)information from 780 pairs of questionnaires obtained during the first and second interviews of the mothers and (ii)thyroid doses, which were calculated for the cohort members using this information, is evaluated. RESULTS: As of 15 August 2021, 1,267 in utero exposed study subjects had been screened. A single thyroid nodule wasdiagnosed in 167 persons (13.2 % of the total) and multiple thyroid nodules in 101 persons (8.0 %): 189 (14.9 %)persons had nodules detected for the first time at the screening while 79 (6.2 %) persons had nodules detected pre-viously (pre-screening nodules). Fifty-nine out of 268 subjects (22.0 %) with a suspicious thyroid nodule werereferred to fine needle aspiration biopsy, and among them 33 (55.9 %) were biopsied. Reasonable agreement wasobserved for modelqbased doses calculated for the Belarusian in utero cohort members using data from the two inter-views (Spearman's rank-correlation coefficient rs = 0.74, p < 0.001), while measurementqbased doses yielded almost per-fect agreement (rs = 0.99, p < 0.001). CONCLUSIONS: During the thyroid screening, at least one thyroid nodule was identified in 268 of 1,267 (21.2 %) inutero exposed cohort members. Seven thyroid cancer cases were identified in the cohort, including 5 pre-screeningcases and 2 cases detected during the screening. Ongoing research on this unique cohort will provide importantinformation on adverse health effects following prenatal and postnatal exposure to radioiodine and radiocesium iso-topes, for which available epidemiological data are scant.
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Accidente Nuclear de Chernóbil , Feto/efectos de la radiación , Mujeres Embarazadas , Dosis de Radiación , Ceniza Radiactiva/efectos adversos , Glándula Tiroides/fisiopatología , Glándula Tiroides/efectos de la radiación , Nódulo Tiroideo/fisiopatología , Adulto , Estudios de Cohortes , Femenino , Humanos , Recién Nacido , Estudios Longitudinales , Masculino , Exposición Materna/estadística & datos numéricos , Neoplasias Inducidas por Radiación/epidemiología , Embarazo , Efectos Tardíos de la Exposición Prenatal , Reproducibilidad de los Resultados , República de Belarús , Nódulo Tiroideo/epidemiología , Nódulo Tiroideo/etiología , UcraniaRESUMEN
Reconstruction after excision of locoregionally recurrent penile cancer can be a surgical challenge. In this short study, we present two cases of perineal reconstruction using bilateral gracilis flaps supplemented by abdominal advancement for salvage of recurrent penile cancer, reviewing relevant literature and outlining our local approach to the perineum.
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The objectives of this retrospective study were to determine the unexpected return-to-theatre rate for orthognathic surgery at James Cook University Hospital and describe the reasons for return. A total of 357 consecutive orthognathic cases under two consultants over a 13-year period were included. Patients who had an unexpected return to theatre were identified and their notes analysed for data including preoperative dentofacial discrepancy, surgical movement, and reason for return. Returns to theatre for the removal of plates and planned procedures such as removal of a distractor or delayed genioplasty, were excluded. Thirteen patients required reoperation (3.6%). The commonest reason for return was malocclusion, and the majority returned within four weeks of the initial procedure. Proportionally more men returned to theatre than women, and revision was more likely to involve the mandible than the maxilla.
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Procedimientos Quirúrgicos Ortognáticos , Osteotomía Le Fort , Femenino , Mentoplastia , Humanos , Masculino , Mandíbula , Maxilar/cirugía , Estudios RetrospectivosRESUMEN
PURPOSE: Planned interim analysis of GENESIS; a prospective pilot study investigating the role of genicular artery embolization (GAE) in patients with mild to moderate osteoarthritis of the knee using permanent microspheres. METHODS: Thirty-eight patients, median age = 60 (45-83), attended for GAE using 100-300 µm permanent microspheres. All patients had mild to moderate knee OA, resistant to conservative treatments over 6 months. Knee MRI was performed at baseline, and 12 months, enabling semi-quantitative analysis using Whole-Organ Magnetic Resonance Imaging Score (WORMS). Knee Injury and Osteoarthritis Outcome Score (KOOS) and visual analogue scale (VAS) (0-100 mm) were completed at baseline, 6 weeks, 3 months (n = 32), and 1-year (n = 16). Adverse events were recorded prospectively. RESULTS: Technical success of accessing and embolizing the target genicular arteries was 84%. Six patients were not embolized: four due to a presumed risk of non-target embolization, and two due to a lack of hyperaemic target. Mean VAS improved from 60 (SD = 20, 95% CI 53-66) at baseline to 36 (SD = 24, 95% CI 28-44) at 3 months (p < 0.001) and 45 (SD = 30, 95% CI 30-60) at 1-year (p < 0.05). All KOOS subscales showed a significant improvement at 6-weeks, 3-months, and 1-year follow-up, except function in daily living, which reached borderline significance (p = 0.06) at 1-year. Four patients experienced mild self-limiting skin discoloration over the embolized territory. One patient experienced a small self-limiting groin haematoma. WORMS scores at 1-year follow-up showed significant improvement in synovitis (p < 0.05). There were no cases of osteonecrosis. CONCLUSION: GAE using permanent microspheres in patients with mild to moderate knee OA is safe, with potential efficacy at early follow-up.
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Embolización Terapéutica/métodos , Osteoartritis de la Rodilla/terapia , Anciano , Anciano de 80 o más Años , Arterias/diagnóstico por imagen , Femenino , Estudios de Seguimiento , Humanos , Articulación de la Rodilla/irrigación sanguínea , Articulación de la Rodilla/diagnóstico por imagen , Imagen por Resonancia Magnética/métodos , Masculino , Microesferas , Persona de Mediana Edad , Osteoartritis de la Rodilla/diagnóstico por imagen , Proyectos Piloto , Estudios Prospectivos , Resultado del TratamientoRESUMEN
BACKGROUND: Approximately 17% of young adults currently use tobacco, most commonly cigarettes and/or electronic cigarettes (e-cigarettes), followed by other products (i.e., cigarillos, pipe/hookah, smokeless tobacco). Cigarettes have been historically used to control weight. Little is known about use of non-cigarette products for weight control, particularly among non-college young adults. Tobacco use in the military is higher than civilians, and personnel have increased motivation for weight control due to military fitness standards. This population might be vulnerable to use tobacco for this purpose. Purpose: Exploring prevalence, as well as demographic and behavioral correlates, of using tobacco products for weight control, among a large, diverse sample of military young adults. Methods: U.S. Air Force recruits (N = 24,543) completed a questionnaire about tobacco use. Among users of tobacco products, recruits reported if they had ever used that product to maintain their weight. Results: Smokeless tobacco was most commonly used for weight control (12.2%), followed by cigarettes (7.3%), e-cigarettes (5.5%), cigarillos (3.3%), and hookah/pipe (3.2%). Using tobacco for weight control was associated with fewer harm beliefs and more regular use of that product. Among e-cigarette users, having a higher BMI and a lower educational background was associated with ever using this product for weight control. Conclusions: The belief that a tobacco product helps control one's weight might increase the prevalence, and frequency of use, of that product among military young adults. Tobacco cessation programs should assess for this motivation of use and provide education about tobacco harm and alternative strategies for weight maintenance.
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Sistemas Electrónicos de Liberación de Nicotina , Personal Militar , Productos de Tabaco , Tabaco sin Humo , Humanos , Nicotiana , Uso de Tabaco/epidemiología , Adulto JovenRESUMEN
BACKGROUND: The military has stringent anti-tobacco regulations for new recruits. While most tobacco products have declined in recent years, e-cigarette use has tripled among this population. However, little is known about the factors facilitating this inverse relationship. OBJECTIVES: Examine the facilitators of e-cigarette use during a high risk period following initial enlistment among young adults. METHODS: Focus groups were conducted with Airmen, Military Training Leaders (MTLs) and Technical Training Instructors (TTIs) to qualitatively explore unique characteristics of e-cigarettes leading to use in Technical Training. RESULTS: The most commonly used tobacco product across participants was cigarettes (42.7%), followed by e-cigarettes (28.0%) and smokeless tobacco (22.6%). Almost a third (28.7%) of participants reported using more than one tobacco product. E-cigarette use was much more common among Airmen (76.1%), compared to MTLs (10.9%) and TTIs (13.0%).Four main facilitators around e-cigarette use were identified including: 1) There is no reason not to use e-cigarettes; 2) Using e-cigarettes helps with emotion management; 3) Vaping is a way of fitting in; and 4) Existing tobacco control policies don't work for vaping. E-cigarettes were not perceived as harmful to self and others, which could explain why Airmen were much less likely to adhere to existing tobacco control regulations. Subversion was viewed as the healthy option compared to utilizing designated tobacco use areas due to the potential exposure to traditional tobacco smoke. This coupled with a lack of understanding about e-cigarette regulations and difficulties with enforcement, promoted use among this young adult population. CONCLUSION: Findings suggest that e-cigarettes are used for similar reasons as traditional tobacco products, but their unique ability to be concealed promotes their widespread use and circumvents existing tobacco control policies. In order to see reductions in use, environmental policies may need to be paired with behavioral interventions at the personal and interpersonal level.
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Introduction: Autosomal dominant tubulointerstitial kidney disease (ADTKD) is a rare genetic cause of renal impairment resulting from mutations in the MUC1, UMOD, HNF1B, REN, and SEC61A1 genes. Neither the national or global prevalence of these diseases has been determined. We aimed to establish a database of patients with ADTKD in Ireland and report the clinical and genetic characteristics of these families. Methods: We identified patients via the Irish Kidney Gene Project and referral to the national renal genetics clinic in Beaumont Hospital who met the clinical criteria for ADTKD (chronic kidney disease, bland urinary sediment, and autosomal dominant inheritance). Eligible patients were then invited to undergo genetic testing by a variety of methods including panel-based testing, whole exome sequencing and, in five families who met the criteria for diagnosis of ADTKD but were negative for causal genetic mutations, we analyzed urinary cell smears for the presence of MUC1fs protein. Results: We studied 54 individuals from 16 families. We identified mutations in the MUC1 gene in three families, UMOD in five families, HNF1beta in two families, and the presence of abnormal MUC1 protein in urine smears in three families (one of which was previously known to carry the genetic mutation). We were unable to identify a mutation in 4 families (3 of whom also tested negative for urinary MUC1fs). Conclusions: There are 4443 people with ESRD in Ireland, 24 of whom are members of the cohort described herein. We observe that ADTKD represents at least 0.54% of Irish ESRD patients.
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Genes Dominantes , Fallo Renal Crónico/genética , Túbulos Renales/patología , Adulto , Anciano , Estudios Transversales , Femenino , Pruebas Genéticas/estadística & datos numéricos , Factor Nuclear 1-beta del Hepatocito/genética , Humanos , Irlanda/epidemiología , Fallo Renal Crónico/epidemiología , Fallo Renal Crónico/patología , Masculino , Persona de Mediana Edad , Mucina-1/genética , Mutación , Prevalencia , Uromodulina/genéticaRESUMEN
Concentrate inclusion levels in dairy cow diets are often adjusted so that the milk yield responses remain economic. While changes in concentrate level on performance is well known, their impact on other biological parameters, including immune function, is less well understood. The objective of this study was to evaluate the effect of concentrate inclusion level in a grass silage-based mixed ration on immune function. Following calving 63 (45 multiparous and 18 primiparous) Holstein Friesian dairy cows were allocated to one of three isonitrogenous diets for the first 70 days of lactation. Diets comprised of a mixture of concentrates and grass silage, with concentrates comprising either a low (30%, LC), medium (50%, MC) or high (70%, HC) proportion of the diet on a dry matter (DM) basis. Daily DM intakes, milk yields and BW were recorded, along with weekly body condition score, milk composition and vaginal mucus scores. Blood biochemistry was measured using a chemistry analyzer, neutrophil phagocytic and oxidative burst assessed using commercial kits and flow cytometry, and interferon-γ production evaluated by ELISA after whole blood stimulation. Over the study period cows on HC had a higher total DM intake, milk yield, fat yield, protein yield, fat+protein yield, protein content, mean BW and mean daily energy balance, and a lower BW loss than cows on MC, whose respective values were higher than cows on LC. Cows on HC and MC had a lower serum non-esterified fatty acid concentration than cows on LC (0.37, 0.37 and 0.50 mmol/l, respectively, P=0.005, SED=0.032), while cows on HC had a lower serum ß-hydroxybutyrate concentration than cows on MC and LC (0.42, 0.55 and 0.55 mmol/l, respectively, P=0.002, SED=0.03). Concentrate inclusion level had no effect on vaginal mucus scores. At week 3 postpartum, cows on HC tended to have a higher percentage of oxidative burst positive neutrophils than cows on LC (43.2% and 35.3%, respectively, P=0.078, SED=3.11), although at all other times concentrate inclusion level in the total mixed ration had no effect on neutrophil phagocytic or oxidative burst characteristics, or on interferon-γ production by pokeweed mitogen stimulated whole blood culture. This study demonstrates that for high yielding Holstein Friesian cows managed on a grass silage-based diet, concentrate inclusion levels in early lactation affects performance but has no effect on neutrophil or lymphocyte immune parameters.