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The pathogenesis of COVID-19 warrants unravelling. Genetic polymorphism analysis may help answer the variability in disease outcome. To determine the role of KIR and HLA polymorphisms in susceptibility, progression, and severity of SARS-CoV-2 infection, 458 patients and 667 controls enrolled in this retrospective observational study from April to December 2020. Mild/moderate and severe/death study groups were established. HLA-A, -B, -C, and KIR genotyping were performed using the Lifecodes® HLA-SSO and KIR-SSO kits on the Luminex® 200™ xMAP fluoroanalyser. A probability score using multivariate binary logistic regression analysis was calculated to estimate the likelihood of severe COVID-19. ROC analysis was used to calculate the best cut-off point for predicting a worse clinical outcome with high sensitivity and specificity. A p ≤ 0.05 was considered statistically significant. KIR AA genotype protected positively against severity/death from COVID-19. Furthermore, KIR3DL1, KIR2DL3 and KIR2DS4 genes protected patients from severe forms of COVID-19. KIR Bx genotype, as well as KIR2DL2, KIR2DS2, KIR2DS3 and KIR3DS1 were identified as biomarkers of severe COVID-19. Our logistic regression model, which included clinical and KIR/HLA variables, categorised our cohort of patients as high/low risk for severe COVID-19 disease with high sensitivity and specificity (Se = 94.29%, 95% CI [80.84-99.30]; Sp = 84.55%, 95% CI [79.26-88.94]; OR = 47.58, 95%CI [11.73-193.12], p < 0.0001). These results illustrate an association between KIR/HLA ligand polymorphism and different COVID-19 outcomes and remarks the possibility of use them as a surrogate biomarkers to detect severe patients in possible future infectious outbreaks.
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COVID-19 , Receptores KIR , SARS-CoV-2 , Humanos , COVID-19/genética , COVID-19/imunologia , COVID-19/virologia , Receptores KIR/genética , Masculino , Feminino , Pessoa de Meia-Idade , SARS-CoV-2/imunologia , Projetos Piloto , Estudos Retrospectivos , Polimorfismo Genético , Idoso , Genótipo , Predisposição Genética para Doença , Adulto , Índice de Gravidade de Doença , Antígenos HLA/genéticaRESUMO
The Asociación Española de Pancreatología (AESPANC), Asociación Española de Gastroenterología (AEG), and Sociedad Española de Patología Digestiva (SEPD) have developed a consensus document on the standards and recommendations they consider essential for the organization of pancreas units (PUs) within gastroenterology services (GSs) in order to conduct their activities in an efficient, high-quality manner. The consensus document defines PUs and lays down standards relating to their organization, structure, service portfolio, processes, and teaching and research activities. Standards have been categorized as mandatory (requirements to be met to qualify for certification by the scientific societies responsible for the standards) or recommendations. Standards should be updated at most within five years based on the experience gained in Spanish PUs and the advance of knowledge regarding pancreas disease. Development of health outcome indicators, including patient-reported outcome measures (PROMs), is considered a relevant challenge, as is evidence on the association of PU structure and activity standards with health outcomes.
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Síndrome de Sobreposição da Doença Pulmonar Obstrutiva Crônica e Asma , Humanos , Feminino , Prevalência , Masculino , Pessoa de Meia-Idade , Síndrome de Sobreposição da Doença Pulmonar Obstrutiva Crônica e Asma/diagnóstico , Síndrome de Sobreposição da Doença Pulmonar Obstrutiva Crônica e Asma/epidemiologia , Idoso , Pulmão/fisiopatologia , Asma/epidemiologia , Asma/diagnóstico , Estudos de Coortes , Adulto , Doença Pulmonar Obstrutiva Crônica/epidemiologia , Doença Pulmonar Obstrutiva Crônica/diagnósticoRESUMO
Phytoplankton cells are now recognized as dynamic entities rather than as passive and isolated particles because they can actively modulate impacts of selection factors (nutrients, light, turbidity, and mixing) through a wide range of adaptations. Cell shape and/or chain length modulation is one of these processes but has predominantly been studied as an adaptation or an acclimatation to a specific growth limitation (light, nutrients, predation, etc.). In this study we have demonstrated that cell shape and size may have greater roles than previously known in phytoplankton ecology and species adaptation by permitting cell-to-cell signaling and more complex ecological processes that result from it. By exploring microscale biophysical interactions that lead to specific cell reorientation processes, we demonstrated that cell geometry not only modulates cell sinking rates but can also provide fast sensor responses to the cells' environment. Although gyrotaxis has been described in detail for motile phytoplankton cells, our findings illustrate that the reorientation process described here can occur even in non-motile cells within their natural environment. An additional consistent behavior was also recently described for a diatom species (Pseudo-nitzschia delicatessima), and with this study, we extend this observation to Pseudo-nitzschia pungens and Pseudo-nitzschia fraudulenta. Our observations emphasize the generality of this process, which adds a new level of complexity to our understanding of cellular interactions and their network of sensors.
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Aim: To analyze the association between clavicular tunnel positioning and postoperative reduction loss in patients with acute acromioclavicular (AC) joint dislocation treated with anatomic coracoclavicular (CC) fixation using double clavicular tunnels. Methods: A retrospective review of patients with AC joint dislocation, treated with anatomic CC fixation using double clavicular tunnels, was conducted. Patients with pre-operative, immediate post-operative, and final follow-up Zanca-view X-rays were included. On each X-ray, the obtained measures included: distance from lateral border of clavicle to trapezoid and conoid tunnels, distance between tunnels, clavicle length, and CC distance of affected and un-affected sides. Loss of reduction was calculated as CC distance difference between immediate and final post-operative X-rays. Association between reduction loss and tunnel positioning was analyzed. Results: Conoid, trapezoid and tunnel ratios were 24% ± 4, 15% ± 3, and 9% ± 2, respectively. Significant reduction loss was seen in 21(45.7%) patients. Significantly higher probabilities of reduction loss were associated with trapezoid tunnels placed medial to 24â mm (30.8% vs 65.0%, OR 4.2 (IC95%: 1.2-14.4), p: 0.024) or 15% of the clavicle length (32.1% vs 66.7%, OR 4.2 (IC 95%: 1.2-14.9), p: 0.025). Conclusions: Trapezoid tunnels placed medial to 24â mm or 15% medial to clavicle length could lead to higher probabilities of significant reduction loss. These findings support the importance of clavicular tunnels' proper placement for decreasing significant reduction loss.
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Metal mining in the Extremadura region was very important in the 19th and 20th centuries. However, due to different reasons the great majority of mines ceased operations, leading to plenty of abandoned mining sites, most of them with on-site waste dumps. Although metal extraction is not radioactive per se, it is considered a NORM activity. In this study, three former mining sites, in which Pb-V-Zn-Ag, Pb-Ag, and Pb-Zn were extracted, were selected to assess the radiological impact on the population and the environment. The external γ exposure was estimated by determining the effective dose and elaborating isodose maps of the sites. The presence of the mining sites increased up to 0.41 mSv/y the effective dose over the surrounding background, which is below the reference value of 1 mSv/y. In only one mining site, the uranium and radium activity concentration of waste dumps were higher than the surrounding soil. The soil to plant (wild grass) transfer factors were similar to other reported values without the influence of NORM activities. So, no enhanced transfer of radionuclides was observed. The radiological impact on the environment was assessed by the risk to non-human biota using the tiered approach developed in ERICA Tool. The sum of the risk quotients of all considered radionuclides in the most conservative Tier 1 was below 1. Total dose rates for several terrestrial Reference Animal and Plants (RAPs) were estimated using Tier 3, obtaining values below 40 µGy/h. Therefore, the impact on non-human biota can be considered as negligible.
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Mineração , Monitoramento de Radiação , Poluentes Radioativos do Solo , Monitoramento de Radiação/métodos , Espanha , Poluentes Radioativos do Solo/análise , Metais/análiseRESUMO
PURPOSE: To report oncologic outcomes of patients undergoing salvage cryotherapy (SCT) for local recurrence of prostate cancer (PCa) and to establish a nadir PSA (nPSA) value that best defines long-term oncologic success. METHODS: Retrospective study of men who underwent SCT for local recurrence of PCa between 2008 and 2020. SCT was performed in men with biochemical recurrence (BCR), after primary treatment and with biopsy-proven PCa local recurrence. Survival analysis with Kaplan-Meier and Cox models was performed. We determined the optimal cutoff nPSA value after SCT that best classifies patients depending on prognosis. RESULTS: Seventy-seven men who underwent SCT were included. Survival analysis showed a 5-year biochemical recurrence-free survival (BRFS), androgen deprivation therapy-free survival (AFS), and metastasis-free survival (MFS) after SCT of 48.4%, 62% and 81.3% respectively. On multivariable analysis for perioperative variables associated with BCR, initial ISUP, pre-SCT PSA, pre-SCT prostate volume and post-SCT nPSA emerged as variables associated with BCR. The cutoff analysis revealed an nPSA < 0.5 ng/ml to be the optimal threshold that best defines success after SCT. 5-year BRFS for patients achieving an nPSA < 0.5 vs nPSA ≥ 0.5 was 64% and 9.5% respectively (p < 0.001). 5-year AFS for men with nPSA < 0.5 vs ≥ 0.5 was 81.2% and 12.2% (p < 0.001). Improved 5-year MFS for patients who achieved nPSA < 0.5 was also obtained (89.6% vs 60%, p = 0.003). CONCLUSION: SCT is a feasible rescue alternative for the local recurrence of PCa. Achieving an nPSA < 0.5 ng/ml after SCT is associated with higher long-term BRFS, AFS and MFS rates.
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Antígeno Prostático Específico , Neoplasias da Próstata , Masculino , Humanos , Prognóstico , Estudos Retrospectivos , Neoplasias da Próstata/cirurgia , Crioterapia , Terapia de Salvação , Recidiva Local de Neoplasia/terapiaRESUMO
This study presents a fractional calculus model as a generalized kinetic model for estimating the maximum methane yield and degradation kinetics in biomethane potential (BMP) assays, a key analytical method in anaerobic digestion research and application. The fractional model outperformed common first-order kinetic models by yielding superior data fitting and properly managing substrate heterogeneity. The fractional model showed robust performance in mono-digestion, co-digestion and pre-treatment BMP assays with or without presence of large tailing or sigmoidal patterns in the BMP curve. The main advantage of the fractional model over other models is its ability to capture the complexities of the methane production process without losing model accuracy. Assessment of the mathematical model revealed that for fractional orders greater than 0.8 the Mittag-Leffler sequence could be transformed into a more computationally efficient exponential function.
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Metano , Modelos Teóricos , Anaerobiose , Reatores BiológicosRESUMO
INTRODUCTION AND OBJECTIVE: Among the many treatments for erectile dysfunction, implantation of a penile prosthesis has been associated with high patient satisfaction rates. However, patients with coexistent Peyronie's disease (PD) and refractory erectile dysfunction and/or severe deformities may show different results. The aim of our study was to assess and to compare the level of satisfaction, with an inflatable penile prosthesis (IPP), in men with/without coexistent PD. MATERIAL AND METHODS: A survey study based on a five-item satisfaction questionnaire was submitted to all those live patients implanted in the period 1992-2022 at our center (n=570) and their partners. Ninety-two percent of implants were inflatable devices. Surgeries were mainly performed by two surgeons. The main outcome measure used was the level of patient and partner satisfaction with sexual intercourse after IPP. RESULTS: Of the 570 eligible patients, 479 (84%) completed the survey (393 Non-PD: GROUP 1; 70 non-complex PD-Group 2; 16 complex PD). Eighty-six per cent of patients in Group 1 reported satisfactory sexual intercourse (very or moderately satisfied). Non-complex PD implanted patients (Group 2) reported a global 81% satisfactory sexual intercourse (very or moderately satisfied) (p>0.05). However, when we evaluated the PD subgroup of patients with severe PD who require incision/excision/grafting at the time of implant (Group 3: n=20), only 61% reported satisfactory sexual intercourse (p<0.01) with predominance of moderately satisfied patients over very satisfied: 78% vs. 22%). Additionally, 84% (Group 1), 80% (Group 2) and 54% (Group 3) of partners reported satisfactory intercourses, respectively (p<0.01). Overall, 84% of Group 1 implants and 79% of Group 2 reported that they would undergo the procedure again if the IPP failed (p>0.05; ns). Only 50% of Group 3 patients would do it again. With regard to cosmetic aspects, 48% of the Group 3 implant reported penile shortness or soft glans as the main causes of their dissatisfaction. Only 2.4% of total PP patients expressed difficulty in manipulating the device. CONCLUSION: The presence of PD alone may not impact PP patient and partner satisfaction, but patients with more severe baseline deformity who require incision/grafting may be less satisfied with outcomes including penile length and glans sensation.
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Satisfação do Paciente , Implante Peniano , Induração Peniana , Prótese de Pênis , Humanos , Induração Peniana/cirurgia , Masculino , Pessoa de Meia-Idade , Idoso , Parceiros Sexuais , Estudos Retrospectivos , Adulto , Satisfação Pessoal , Disfunção Erétil/cirurgiaRESUMO
OBJECTIVE: To assess the diagnostic accuracy of ultrasound for detecting placenta accreta spectrum (PAS) during the first trimester of pregnancy and compare it with the accuracy of second- and third-trimester ultrasound examination in pregnancies at risk for PAS. METHODS: PubMed, EMBASE and Web of Science databases were searched to identify relevant studies published from inception until 10 March 2023. Inclusion criteria were cohort, case-control or cross-sectional studies that evaluated the accuracy of ultrasound examination performed at < 14 weeks of gestation (first trimester) or ≥ 14 weeks of gestation (second/third trimester) for the diagnosis of PAS in pregnancies with clinical risk factors. The primary outcome was the diagnostic accuracy of sonography in detecting PAS in the first trimester, compared with the accuracy of ultrasound examination in the second and third trimesters. The secondary outcome was the diagnostic accuracy of each sonographic marker individually across the trimesters of pregnancy. The reference standard was PAS confirmed at pathological or surgical examination. The potential of ultrasound and different ultrasound signs to detect PAS was assessed by computing summary estimates of sensitivity, specificity, diagnostic odds ratio and positive and negative likelihood ratios. RESULTS: A total of 37 studies, including 5764 pregnancies at risk of PAS, with 1348 cases of confirmed PAS, were included in our analysis. The meta-analysis demonstrated that ultrasound had a sensitivity of 86% (95% CI, 78-92%) and specificity of 63% (95% CI, 55-70%) during the first trimester, and a sensitivity of 88% (95% CI, 84-91%) and specificity of 92% (95% CI, 85-96%) during the second/third trimester. Regarding sonographic markers examined in the first trimester, lower uterine hypervascularity exhibited the highest sensitivity (97% (95% CI, 19-100%)), and uterovesical interface irregularity demonstrated the highest specificity (99% (95% CI, 96-100%)). In the second/third trimester, loss of clear zone had the highest sensitivity (80% (95% CI, 72-86%)), and uterovesical interface irregularity exhibited the highest specificity (99% (95% CI, 97-100%)). CONCLUSIONS: First-trimester ultrasound examination has similar accuracy to second- and third-trimester ultrasound examinations for the diagnosis of PAS. Routine first-trimester ultrasound screening for patients at high risk of PAS may improve detection rates and allow earlier referral to tertiary care centers for pregnancy management. © 2024 International Society of Ultrasound in Obstetrics and Gynecology.
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Placenta Acreta , Primeiro Trimestre da Gravidez , Sensibilidade e Especificidade , Ultrassonografia Pré-Natal , Humanos , Feminino , Gravidez , Placenta Acreta/diagnóstico por imagem , Terceiro Trimestre da Gravidez , Segundo Trimestre da Gravidez , Trimestres da GravidezRESUMO
BACKGROUND: Ischaemic stroke may be a major complication of SARS-CoV-2 infection. Studying and characterising the different aetiological subtypes, clinical characteristics, and functional outcomes may be valuable in guiding patient selection for optimal management and treatment. METHODS: Data were collected retrospectively on consecutive patients with COVID-19 who developed acute focal brain ischaemia (between 1 March and 19 April 2020) at a tertiary university hospital in Madrid (Spain). RESULTS: During the study period, 1594 patients were diagnosed with COVID-19. We found 22 patients with ischaemic stroke (1.38%), 6 of whom did not meet the inclusion criteria. The remaining 16 patients were included in the study (15 cases of ischaemic stroke and one case of transient ischaemic attack). Median baseline National Institutes of Health Stroke Scale score was 9 (interquartile range: 16), and mean (standard deviation) age was 73 years (12.8). Twelve patients (75%) were men. Mean time from COVID-19 symptom onset to stroke onset was 13 days. Large vessel occlusion was identified in 12 patients (75%). We detected elevated levels of D-dimer in 87.5% of patients and C-reactive protein in 81.2%. The main aetiology was atherothrombotic stroke (9 patients, 56.3%), with the predominant subtype being endoluminal thrombus (5 patients, 31.2%), involving the internal carotid artery in 4 cases and the aortic arch in one. The mortality rate in our series was 44% (7 of 16 patients). CONCLUSIONS: In patients with COVID-19, the most frequent stroke aetiology was atherothrombosis, with a high proportion of endoluminal thrombus (31.2% of patients). Our clinical and laboratory data support COVID-19-associated coagulopathy as a relevant pathophysiological mechanism for ischaemic stroke in these patients.
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Isquemia Encefálica , COVID-19 , AVC Isquêmico , Acidente Vascular Cerebral , Trombose , Estados Unidos , Masculino , Humanos , Idoso , Feminino , Acidente Vascular Cerebral/epidemiologia , Acidente Vascular Cerebral/etiologia , Acidente Vascular Cerebral/diagnóstico , Isquemia Encefálica/etiologia , Isquemia Encefálica/terapia , Estudos Retrospectivos , COVID-19/complicações , SARS-CoV-2 , AVC Isquêmico/etiologia , AVC Isquêmico/complicações , Trombose/epidemiologia , Trombose/etiologiaAssuntos
Produtos Biológicos , Rinite , Humanos , Cavidade Nasal , Produtos Biológicos/uso terapêuticoRESUMO
Background and aims: The role of occupation is uncertain in the onset of inflammatory bowel diseases. The aim of this study is to identify if there is a role of occupation in these diseases. Materials and methods: A case-control study with incident cases with inflammatory bowel diseases was designed. Cases and controls were recruited simultaneously and controls followed a sex and age frequency matching with cases. A detailed questionnaire was completed by all the participants. To analyze the results, a logistic regression was used. A subgroup analysis was performed for each inflammatory bowel disease. Results: A total of 141 patients with incident inflammatory bowel disease (80 ulcerative colitis, 55 Crohn's disease, and 6 unclassified colitis) and 114 controls were included. There were no statistically significant differences in type of work, working hours, contact with animals, or physical activity at work between inflammatory bowel disease patients and controls. After stratifying results according to type of IBD, there were no statistically significant differences either. Conclusions: There seems to be no risk for inflammatory bowel disease onset regarding the type of work, working hours, contact with animals, or sedentariness.
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BACKGROUND AND AIMS: Endoreduplication, the duplication of the nuclear genome without mitosis, is a common process in plants, especially in angiosperms and mosses. Accumulating evidence supports the relationship between endoreduplication and plastic responses to stress factors. Here, we investigated the level of endoreduplication in Ceratodon (Bryophyta), which includes the model organism Ceratodon purpureus. METHODS: We used flow cytometry to estimate the DNA content of 294 samples from 67 localities and found three well-defined cytotypes, two haploids and one diploid, the haploids corresponding to C. purpureus and Ceratodon amazonum, and the diploid to Ceratodon conicus, recombination occurring between the former two. KEY RESULTS: The endoreduplication index (EI) was significantly different for each cytotype, being higher in the two haploids. In addition, the EI of the haploids was higher during the hot and dry periods typical of the Mediterranean summer than during spring, whereas the EI of the diploid cytotype did not differ between seasons. CONCLUSIONS: Endopolyploidy may be essential in haploid mosses to buffer periods of drought and to respond rapidly to desiccation events. Our results also suggest that the EI is closely related to the basic ploidy level, but less so to the nuclear DNA content as previously suggested.
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Briófitas , Bryopsida , Diploide , Haploidia , Endorreduplicação/genética , Secas , DNARESUMO
Since the inception of the transcranial magnetic stimulation (TMS) technique, it has become imperative to numerically compute the distribution of the electric field induced in the brain. Various models of the coil-brain system have been proposed for this purpose. These models yield a set of formulations and boundary conditions that can be employed to calculate the induced electric field. However, the literature on TMS simulation presents several of these formulations, leading to potential confusion regarding the interpretation and contribution of each source of electric field. The present study undertakes an extensive compilation of widely utilized formulations, boundary value problems and numerical solutions employed in TMS fields simulations, analyzing the advantages and disadvantages associated with each used formulation and numerical method. Additionally, it explores the implementation strategies employed for their numerical computation. Furthermore, this work provides numerical expressions that can be utilized for the numerical computation of TMS fields using the finite difference and finite element methods. Notably, some of these expressions are deduced within the present study. Finally, an overview of some of the most significant results obtained from numerical computation of TMS fields is presented. The aim of this work is to serve as a guide for future research endeavors concerning the numerical simulation of TMS.
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Autism Spectrum Disorder (ASD) and Developmental Language Disorder (DLD) have traditionally been considered separate disorders, although some similarities and overlaps in certain aspects of language have been detected. In this paper, we compare the deficits in receptive grammar in these two disorders. We analyse the proportion of grammatical errors in relation to semantic complexity in 84 children divided into four groups: children with autism language impairment (ALI), with autism language normal (ALN), with DLD, and with typical development (TD), all groups with the same age of receptive vocabulary. The results show significant differences in the comprehension of grammatical structures, both simple (canonical and non-reversible) and complex (non-canonical and reversible). Children with ASD and DLD show different language profiles depending on the syntactic complexity. In the simplest structures, no differences are found between the groups, starting at an equivalent vocabulary age of 7:8 years. However, there are differences between the ALI and DLD groups with respect to the TD group in the more complex structures, starting at an equivalent vocabulary age of 3 years. Therefore, both groups ALI and DLD present the greatest difficulties compared to ALN and TD. The paper discusses the importance of attending to these differences, since the repercussion of comprehension difficulties increases as children grow.
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INTRODUCTION: The incidence of myotonic dystrophy type 1 (DM1), a disease with great phenotypic variety, in our region is unknown. This study aims to estimate the incidence of DM1 at our hospital (a reference centre in Aragon, Spain) and to identify the characteristics of our population (genotype-phenotype correlation). METHODS: Retrospective, descriptive study of 459 patients classified according to the number of CTG repeats, as follows: normal (5-35), premutation (36-50), protomutation (51-80), small expansions (81-150), intermediate expansions (151-1000), and large expansions (> 1000). Furthermore, according to clinical phenotype, patients were categorised as unaffected (5-50 CTG repeats), mild form or asymptomatic (51-150), classical form (151-1000), and severe form (> 1000). RESULTS: The incidence of DM1 was 20.61 cases per million person-years (95% CI, 19.59-21.63). An inverse correlation was observed between the number of CTG repeats and the age at genetic diagnosis (ρ = -0.547; 95% CI, -0.610 to -0.375; P < .001). CTG5 was the most frequent polymorphic allele in healthy individuals. Of all patients with DM1, 28.3% presented the mild or asymptomatic form, 59.1% the classical form, and 12.6% the severe form. Inheritance was maternal in 35.1% of cases, paternal in 59.4%, and uncertain in 5.5%. In mild forms, frontal balding in men was the most prevalent phenotypic trait, as well as myotonia and cataracts, while in the classical form, ptosis, facial weakness, voice and pronunciation alterations, myotonia, and fatigue/sleepiness were most frequent. CONCLUSIONS: The incidence of DM1 in Aragon is significant. Multidisciplinary study of the phenotype of patients with DM1 is key to early diagnosis and personalised management.