Introduction
Congenital dyserythropoietic anemias (CDA) are characterized by hyporegenerative anemia with inadequate reticulocyte values, ineffective erythropoiesis, and hemolysis. Distinctive ...morphology of bone marrow erythroblasts and identification of causative genes allow classification into 4 types caused by variants in CDAN1, c15orf41, SEC23B, KIF23, and KLF1 genes.
Objective
Identify pathogenic variants in CDA patients.
Methods
Massive parallel sequencing with a targeted gene panel, Sanger sequencing, Comparative Genome Hybridization (CGH), and in silico predictive analysis of pathogenicity.
Results
Pathogenic variants were found in 21 of 53 patients studied from 44 unrelated families. Six variants were found in CDAN1: two reported, p.Arg714Trp and p.Arg725Trp and, four novel, p.Arg623Trp, p.Arg946Trp, p.Phe1125Ser and p.Ser1227Gly. Twelve variants were found in SEC23B: seven reported, p.Arg14Trp, p.Glu109Lys, p.Arg217Ter, c.835‐2A>G, p.Arg535Ter, p.Arg550Ter and p.Arg718Ter and, five novel, p.Val164Leu, p.Arg190Gln, p.Gln521Ter, p.Arg546Trp, and p.Arg611Gln. The variant p.Glu325Lys in KLF1 was found in one patient and p.Tyr365Cys in ALAS2 in an other. Moreover, we identified genomic rearrangements by CGH in some SEC23B‐monoallelic patients.
Conclusions
New technologies for genetic studies will help to find variants in other genes, in addition to those known, that contribute to or modulate the CDA phenotype or support the correct diagnosis.
Abstract Objective To evaluate the effectiveness of multifactorial interventions carried out in the community setting to decrease cardiovascular risk in healthy patients. Methods Systematic review of ...the MEDLINE (via PubMed), Web of Science and Cochrane Library databases from January 1980 to January 2014. Identified for inclusion were systematic reviews of clinical trials that included multifactorial interventions carried out in primary care or community settings, targeting more than one cardiovascular risk factor, and implementing more than one type of intervention. The methodological quality of the included articles was evaluated using the AMSTAR tool. Results Eight systematic reviews were selected, including 219 studies. All of these reviews provided information about the effectiveness of multifactorial interventions in reducing mortality and morbidity due to cardiovascular diseases. Four reviews reported moderate effectiveness and four showed limited effectiveness. Conclusion Multifactorial community interventions improve cardiovascular risk factors and have a small but potentially important effect on mortality. These interventions seem to be more effective in the at-risk population and when they are carried out at a high level of intensity.
Antibiotic resistance (AR) is an increasingly complex public health problem, considered one of the greatest threats globally. The development of AR in bacterial pathogens is an expected consequence ...of evolutionary adaptation due to antimicrobials contamination in the environment. However, multiple factors are associated with the emergence and dissemination of AR, including excessive and poorly regulated use of antibiotics in human and animal medicine, agriculture, livestock, and industry, among other fields. The role of the environment as a reservoir for the generation and dissemination of AR genes and AR bacteria has recently been indicated. The approach to contain and control this problem involves multiple disciplines such as human and animal medicine, the environment, the industry, and the economy. This article describes the AR problem, the factors associated with its origin, and the multidisciplinary approach proposed for its management at a global level. Also, it will be described how AR affects sustainable development according to the UN 2030 Agenda, in compliance with some of the sustainable development goals.
La resistencia a los antimicrobianos (RAM) es un problema de salud pública cada vez más complejo y se considera como una de las mayores amenazas en todo el mundo. El desarrollo de la RA en los patógenos bacterianos es una consecuencia esperada de la adaptación evolutiva, debido a la presencia de este tipo de contaminantes, los antibióticos, en variedad de nichos ecológicos. Además, hay múltiples factores asociados con su origen y diseminación, entre ellos, el uso desmedido y poco regulado de los antibióticos en la medicina humana y veterinaria, así como en la agricultura, la ganadería y la industria. De hecho, recientemente se ha indicado el papel del ambiente como reservorio para genes de RA y bacterias resistentes a antibióticos. En este sentido, el enfoque para contener y controlar este problema tan complejo involucra de forma necesaria a diversas áreas como la medicina, la veterinaria, las ciencias ambientales y sectores de la industria y la economía. En este artículo, se realiza una descripción tanto del problema de la RA y sus elementos causales, como del enfoque multidisciplinario que ha sido propuesto para su manejo en el ámbito global. Se detalla también cómo la RA afecta el desarrollo humano sostenible conforme a la Agenda 2030 formulada por la ONU, en el cumplimiento de algunos de los objetivos del desarrollo sostenible (ODS).
Inappropriate practices and lack of regulations regarding antimicrobial use in agricultural production of developing countries increase the risk of exposure to aquatic ecosystems. Sediments may act ...as sink of antimicrobial compounds and can provide a historical record of pollution. In the present study, toxic potential of sediments receiving effluents from a fish farm (TIL1), rice farm (AZ) and swine farm (RD2) and from a reference natural wetland (PV) in a tropical dry region was evaluated. According to local surveys of antimicrobials and national product registries, sites were classified from highest to lowest potential exposure as following: RD2>TIL1>AZ>PV. Both, whole sediment and interstitial water tests, showed a high toxicity of pig farm sediments to the behavior of Anodontites luteola and the survival of Daphnia magna (EC50 -48hrs: 2.4 -11.8%) (ANOVA, p < 0.05). Integrated responses from Cholinesterase activity (ChE), Gluthathion-S-transferase (GST) and Lipoperoxidation (LPO) measured in A. luteola tissue pointed at the pig and rice farms as sites influenced by activities with an intensive use of xenobiotic substances. The assessment of toxicity pointed at the need of more research on sub-lethal effects of antimicrobials on aquatic invertebrates. With this purpose, we analyzed biomarker response of A. luteola to oxytetracycline in vitro and found a decrease of ChE and GST in concentrations of 100 microg I(-1).
The main objective was to analyze the evolution of muscle of the Quadriceps Rectus Femoris (QRF) between admission and discharge, in older adults hospitalized with an acute medical disease in Acute ...Geriatric Units (AGUs).
Prospective multicentric observational cohort study.
Seven AGUs from University Hospitals in Spain.
Hospitalized adults ≥ 70 years old, able to ambulate and without severe dementia.
Ultrasound measurements of QRF were acquired at 2/3 distal between anterior-superior iliac spine and patella in both legs by trained Geriatricians. Ultrasound Chison model ECO2 was used. QRF area, thickness, edema, echogenicity, and fasciculations were measured.
From the complete sample (n = 143), in 45 (31.5%) participants, ultrasound images were classified as non-valid by an expert radiologist. Mean age was 87.8 (SD 5.4). Mean hospital stay 7.6 days (SD 4.3). From those with valid images, 36 (49.3%), 2 (2.7%), and 35 (47.9%) presented a decrease, equal values, or an increase in QRF area from baseline to discharge, respectively, and 37 (50.0%), 2 (2.7%), and 35 (47.3%) presented a decrease, equal values, or an increase in QRF thickness, respectively. 26 (35.6%) presented a decrease in more than 0.2 cm
of QRF area, and 23 (31.1%) a decrease in more than 0.1 cm of QRF thickness. Only 4 (5.4%) patients presented new edema, while 13 (17.6%) worsened echogenicity.
One third of older adults develop significant muscle loss during a hospitalization for acute medical diseases.
NCT05113758.
Measurement of muscle mass and function, and thereafter, screening and diagnosis of sarcopenia, is a challenge and a need in hospitalized older adults. However, it is difficult in complex real-world ...old patients, because usually they are unable to collaborate with clinical, functional, and imaging testing. Ultrasound measurement of quadriceps rectus femoris (QRF) provides a non-invasive, real-time assessment of muscle quantity and quality, and is highly acceptable to participants with excellent inter-rater and intra-rater variability. However, normative data, protocol standardization, and association with longitudinal outcomes, needs further research and consensus.
Prospective exploratory multicenter study in older adults admitted to Acute Geriatric Units (AGUs) for medical reasons. 157 subjects from 7 AGUs of Spain were recruited between May 2019 and January 2022. Muscle ultrasound measurements of the anterior vastus of the QRF were acquired on admission and on discharge, using a previously validated protocol, using a Chieson model ECO2 ultrasound system (Chieson Medical Technologies, Co. Ltd, Wimxu District Wuxi, Jiangsu, China). Measurements included the cross-sectional area, muscle thickness in longitudinal view, intramuscular central tendon thickness, echogenicity, and the presence or absence of edema and fasciculations. Functional, nutritional, and DXA measurements were provided. Clinical follow-up was completed at discharge, and 30 and 90 days after discharge. Variations between hospital admission and discharge ultrasound values, and the relationship with clinical variables, will be analyzed using paired t-tests, Wilcoxon tests, or Mc Nemar chi-square tests when necessary. Prevalence of sarcopenia will be calculated, as well as sensitivity and specificity of ultrasound measurements to determine sarcopenia. Kappa analysis will be used to analyze the concordance between measurements, and sensitivity analysis will be conducted for each participating center.
The results obtained will be of great interest to the scientific geriatric community to assess the utility and validity of ultrasound measurements for the detection and follow-up of sarcopenia in hospitalized older adults, and its association with adverse outcomes.
NCT05113758. Registration date: November 9
2021. Retrospectively registered.
Surgery Is in Itself a Risk Factor for the Patient Aranaz-Ostáriz, Verónica; María Teresa Gea-Velázquez De Castro; López-Rodríguez-Arias, Francisco ...
International journal of environmental research and public health,
04/2022, Letnik:
19, Številka:
8
Journal Article
Recenzirano
Odprti dostop
(1) Background: Adverse events (AE) affect about 1 in 10 hospitalised patients, and almost half are related to surgical care. The aim of this study is to determine the prevalence of AE in operated ...and non-operated patients in surgical departments in order to determine whether surgical treatment is a risk factor for AE. (2) Methods: A cross-sectional design that included 3123 patients of 34 public hospitals in the Community of Madrid determining the prevalence of AEs in operated and non-operated patients in surgical departments. (3) Results: The prevalence of AE in non-operated patients was 8.7% and in those operated was 15.8%. The frequency of AE was higher in emergency surgery (20.6% vs. 12.4%). The 48.3% of AEs led to an increase in hospital stay, and surgery was involved in 92.4% of cases. The most frequent AEs were related to hospital-acquired infection (42.63%), followed by those related to a procedure (37.72%). In the multivariate analysis, being operated on represented 2.3 times the risk of developing an AE. (4) Conclusions: Surgical sites are particularly vulnerable to AE. Surgical intervention alone is a risk factor for AE, and we must continue to work to improve the safety of both patient care and the working environment of surgical professionals.
The study of pesticide toxicity in aquatic environments is assessed with ecotoxicological tests and most research has been performed using species from temperate regions. In the present study, series ...of acute (48 hrs) toxicity tests to compare the sensibility of two indigenous cladocera of Costa Rica and two reference species were used in temperate regions to the organophosphate pesticide, Ethoprophos. Additionally, reproduction tests using S. serrulatus with sub lethal concentrations of ethoprophos and a control were assayed to check its sensitivity over a longer period exposure. The sensitivity of Costa Rica's native species Daphnia ambigua (EC50 48 hr: 12.9 +/- 3.0 microg(l(-1)) and Simocephalus serrulatus (10.6 +/- 2.1 microg l(-1)) to ethoprophos were higher (p < 0.05) when compared to the exotic species Daphnia magna (289.8 +/- 77.4 microg l(-1)), and were comparable to that of the more widely distributed species, Ceriodaphnia dubia (18.2 +/- 5.2 microg l(-1)). No effect on S. serrulatus reproduction was observed at concentrations between 1 and 4 microg l(-1). This study provides information that can be considered in the selection of species for ecosystem studies of pesticide toxicity in neotropical regions.
La resistencia a los antimicrobianos (RAM) es un problema de salud pública cada vez más complejo y se considera como una de las mayores amenazas en todo el mundo. El desarrollo de la RA en los ...patógenos bacterianos es una consecuencia esperada de la adaptación evolutiva, debido a la presencia de este tipo de contaminantes, los antibióticos, en variedad de nichos ecológicos. Además, hay múltiples factores asociados con su origen y diseminación, entre ellos, el uso desmedido y poco regulado de los antibióticos en la medicina humana y veterinaria, así como en la agricultura, la ganadería y la industria. De hecho, recientemente se ha indicado el papel del ambiente como reservorio para genes de RA y bacterias resistentes a antibióticos. En este sentido, el enfoque para contener y controlar este problema tan complejo involucra de forma necesaria a diversas áreas como la medicina, la veterinaria, las ciencias ambientales y sectores de la industria y la economía. En este artículo, se realiza una descripción tanto del problema de la RA y sus elementos causales, como del enfoque multidisciplinario que ha sido propuesto para su manejo en el ámbito global. Se detalla también cómo la RA afecta el desarrollo humano sostenible conforme a la Agenda 2030 formulada por la ONU, en el cumplimiento de algunos de los objetivos del desarrollo sostenible (ODS).
Aquaculture farmers commonly add tetracycline to fish feed or to their ponds to prevent or treat bacterial infections in their crops. To assess the short-term effect of tetracycline (TET) and of one ...of its reversible epimers, 4-epitetracycline (ETC), on the function and structure of a sediment microbial community from a tropical tilapia farm, we contrasted community-level physiological profiles (CLPP) and phospholipid fatty acid profiles (PLFA) obtained from microcosms exposed for 12 days to 5, 10, 50, or 75 mg kg⁻¹of these antibiotics. Notwithstanding that the concentration of the antibiotics during the experiment decreased between 13–100% (TET) or 16–61% (ETC), both compounds provoked opposing metabolic responses that did not revert. TET displayed a tendency to inhibit respiration at concentrations < 50 mg kg⁻¹, whereas ETC showed the opposite effect. As revealed by the finding of the fatty acids 11:0 iso 3OH, 16:1w6c, and 18:1w6c, the sediment analyzed was predominantly colonized by Gram-negative bacteria. A marked decrease in fatty acid diversity accompanied the aforementioned metabolic responses, with TET concentrations > 50 mg kg⁻¹leading to an enrichment of yeast and fungal biomarkers and both antibiotics at concentrations < 10 mg kg⁻¹selecting for microorganisms with 11:0 iso 3OH. In agreement with CLPP data, differences between the PLFA profiles of control and treated microcosms were more pronounced for TET than for ETC. We conclude that high, yet field-relevant, concentrations of TET and ETC have the potential to modify the composition, and to a lesser extent, the functioning of a sediment microbial community. This study highlights the importance of considering antibiotic degradation products in ecotoxicological research.
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