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1.
Cereb Cortex ; 34(1)2024 01 14.
Artigo em Inglês | MEDLINE | ID: mdl-38100327

RESUMO

Social cooperation often requires taking different roles in order to reach a shared goal. By defining individual tasks, these roles dictate processing demands of the collaborators. The main aim of the present study was to examine the hypothesis that induced alpha and lower beta oscillations provide insights into affective and cognitive brain states during social cooperation. Toward this end, an experimental game was used in which participants had to navigate a Pacman figure through a maze by sending and receiving information about the correct moving direction. Supporting our hypotheses, individual roles taken by the collaborators during gameplay were associated with significant changes in alpha and lower beta power. Furthermore, effects were similar when participants played the Pacman Game with human or computer partners. Findings are discussed from the perspective of the information-via-desynchronization hypothesis proposing that alpha and lower beta power decreases reflect states of enhanced cortical information representation. Overall, experimental games are a useful tool for extending basic research on brain oscillations to the domain of naturalistic social interaction as emphasized by the second-person neuroscience perspective.


Assuntos
Encéfalo , Comportamento Cooperativo , Humanos , Comportamento Social , Emoções , Cognição
2.
Allergy ; 79(4): 977-989, 2024 04.
Artigo em Inglês | MEDLINE | ID: mdl-38433402

RESUMO

BACKGROUND: IgE-mediated food allergy (FA) is a global health concern with substantial individual and societal implications. While diverse intervention strategies have been researched, inconsistencies in reported outcomes limit evaluations of FA treatments. To streamline evaluations and promote consistent reporting, the Core Outcome Measures for Food Allergy (COMFA) initiative aimed to establish a Core Outcome Set (COS) for FA clinical trials and observational studies of interventions. METHODS: The project involved a review of published clinical trials, trial protocols and qualitative literature. Outcomes found as a result of review were categorized and classified, informing a two-round online-modified Delphi process followed by hybrid consensus meeting to finalize the COS. RESULTS: The literature review, taxonomy mapping and iterative discussions with diverse COMFA group yielded an initial list of 39 outcomes. The iterative online and in-person meetings reduced the list to 13 outcomes for voting in the formal Delphi process. One more outcome was added based on participant suggestions after the first Delphi round. A total of 778 participants from 52 countries participated, with 442 participating in both Delphi rounds. No outcome met a priori criteria for inclusion, and one was excluded as a result of the Delphi. Thirteen outcomes were brought to the hybrid consensus meeting as a result of Delphi and two outcomes, 'allergic symptoms' and 'quality of life' achieved consensus for inclusion as 'core' outcomes. CONCLUSION: In addition to the mandatory reporting of adverse events for FA clinical trials or observational studies of interventions, allergic symptoms and quality of life should be measured as core outcomes. Future work by COMFA will define how best to measure these core outcomes.


Assuntos
Hipersensibilidade Alimentar , Qualidade de Vida , Humanos , Técnica Delphi , Hipersensibilidade Alimentar/diagnóstico , Hipersensibilidade Alimentar/terapia , Imunoglobulina E , Avaliação de Resultados em Cuidados de Saúde , Projetos de Pesquisa , Resultado do Tratamento , Ensaios Clínicos como Assunto , Estudos Observacionais como Assunto
3.
Exp Physiol ; 2024 Feb 29.
Artigo em Inglês | MEDLINE | ID: mdl-38421268

RESUMO

Heart failure with preserved ejection fraction (HFpEF) is frequently attributed etiologically to an underlying left ventricular (LV) diastolic dysfunction, although its pathophysiology is far more complex and can exhibit significant variations among patients. This review endeavours to systematically unravel the pathophysiological heterogeneity by illustrating diverse mechanisms leading to an impaired cardiac output reserve, a central and prevalent haemodynamic abnormality in HFpEF patients. Drawing on previously published findings from our research group, we propose a pathophysiology-guided phenotyping based on the presence of: (1) LV diastolic dysfunction, (2) LV systolic pathologies, (3) arterial stiffness, (4) atrial impairment, (5) right ventricular dysfunction, (6) tricuspid valve regurgitation, and (7) chronotopic incompetence. Tailored to each specific phenotype, we explore various potential treatment options such as antifibrotic medication, diuretics, renal denervation and more. Our conclusion underscores the pivotal role of cardiac output reserve as a key haemodynamic abnormality in HFpEF, emphasizing that by phenotyping patients according to its individual pathomechanisms, insights into personalized therapeutic approaches can be gleaned.

4.
Trop Med Int Health ; 2024 Jul 12.
Artigo em Inglês | MEDLINE | ID: mdl-38994702

RESUMO

ΟBJECTIVES: Although Buruli ulcer, tuberculosis, and leprosy are the three most common mycobacterial diseases, One Health dimensions of these infections remain poorly understood. This narrative review aims at exploring the scientific literature with respect to the presence of animal reservoir(s) and other environmental sources for the pathogens of these infections, their role in transmission to humans and the research on/practical implementation of One Health relevant control efforts. METHODS: The literature review was conducted using the online databases PubMed, Scopus, ProQuest and Google Scholar, reviewing articles that were written in English in the last 15 years. Grey literature, published by intergovernmental agencies, was also reviewed. RESULTS: For the pathogen of Buruli ulcer, evidence suggests possums as a possible animal reservoir and thus having an active role in disease transmission to humans. Cattle and some wildlife species are deemed as established animal reservoirs for tuberculosis pathogens, with a non-negligible proportion of infections in humans being of zoonotic origin. Armadillos constitute an established animal reservoir for leprosy pathogens with the transmission of the disease from armadillos to humans being deemed possible. Lentic environments, soil and other aquatic sources may represent further abiotic reservoirs for viable Buruli ulcer and leprosy pathogens infecting humans. Ongoing investigation and implementation of public health measures, targeting (sapro)zoonotic transmission can be found in all three diseases. CONCLUSION: Buruli ulcer, tuberculosis and leprosy exhibit important yet still poorly understood One Health aspects. Despite the microbiological affinity of the respective causative mycobacteria, considerable differences in their animal reservoirs, potential environmental sources and modes of zoonotic transmission are being observed. Whether these differences reflect actual variations between these diseases or rather knowledge gaps remains unclear. For improved disease control, further investigation of zoonotic aspects of all three diseases and formulation of One Health relevant interventions is urgently needed.

5.
Am J Obstet Gynecol ; 230(3): 368.e1-368.e12, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-37717890

RESUMO

BACKGROUND: The 22q11.2 deletion syndrome is the most common microdeletion syndrome and is frequently associated with congenital heart disease. Prenatal diagnosis of 22q11.2 deletion syndrome is increasingly offered. It is unknown whether there is a clinical benefit to prenatal detection as compared with postnatal diagnosis. OBJECTIVE: This study aimed to determine differences in perinatal and infant outcomes between patients with prenatal and postnatal diagnosis of 22q11.2 deletion syndrome. STUDY DESIGN: This was a retrospective cohort study across multiple international centers (30 sites, 4 continents) from 2006 to 2019. Participants were fetuses, neonates, or infants with a genetic diagnosis of 22q11.2 deletion syndrome by 1 year of age with or without congenital heart disease; those with prenatal diagnosis or suspicion (suggestive ultrasound findings and/or high-risk cell-free fetal DNA screen for 22q11.2 deletion syndrome with postnatal confirmation) were compared with those with postnatal diagnosis. Perinatal management, cardiac and noncardiac morbidity, and mortality by 1 year were assessed. Outcomes were adjusted for presence of critical congenital heart disease, gestational age at birth, and site. RESULTS: A total of 625 fetuses, neonates, or infants with 22q11.2 deletion syndrome (53.4% male) were included: 259 fetuses were prenatally diagnosed (156 [60.2%] were live-born) and 122 neonates were prenatally suspected with postnatal confirmation, whereas 244 infants were postnatally diagnosed. In the live-born cohort (n=522), 1-year mortality was 5.9%, which did not differ between groups but differed by the presence of critical congenital heart disease (hazard ratio, 4.18; 95% confidence interval, 1.56-11.18; P<.001) and gestational age at birth (hazard ratio, 0.78 per week; 95% confidence interval, 0.69-0.89; P<.001). Adjusting for critical congenital heart disease and gestational age at birth, the prenatal cohort was less likely to deliver at a local community hospital (5.1% vs 38.2%; odds ratio, 0.11; 95% confidence interval, 0.06-0.23; P<.001), experience neonatal cardiac decompensation (1.3% vs 5.0%; odds ratio, 0.11; 95% confidence interval, 0.03-0.49; P=.004), or have failure to thrive by 1 year (43.4% vs 50.3%; odds ratio, 0.58; 95% confidence interval, 0.36-0.91; P=.019). CONCLUSION: Prenatal detection of 22q11.2 deletion syndrome was associated with improved delivery management and less cardiac and noncardiac morbidity, but not mortality, compared with postnatal detection.


Assuntos
Síndrome de DiGeorge , Cardiopatias Congênitas , Lactente , Recém-Nascido , Gravidez , Feminino , Humanos , Masculino , Síndrome de DiGeorge/diagnóstico , Síndrome de DiGeorge/genética , Estudos Retrospectivos , Diagnóstico Pré-Natal , Cardiopatias Congênitas/diagnóstico , Cardiopatias Congênitas/epidemiologia , Cardiopatias Congênitas/genética , Cuidado Pré-Natal
6.
Cereb Cortex ; 33(6): 2919-2930, 2023 03 10.
Artigo em Inglês | MEDLINE | ID: mdl-35739458

RESUMO

The present study assessed the hypothesis that electrophysiological markers of emotional and task stimulus significance can be demonstrated in concert at the level of the individual case. Participants (n = 18, 9 females) viewed low and high-arousing pictures selected from behavior systems of sexual reproduction, disease avoidance, and predator fear. Furthermore, to concurrently manipulate task relevance, participants performed an explicit emotion categorization task with either low or high-arousing pictures alternating as target stimuli in separate experimental blocks. Pooled across behavior systems, event-related components sensitive to emotional significance reached statistical significance in 100% of the tests for the early posterior negativity and in 96% of the tests for the late positive potential. Regarding explicit task relevance, the target P3 effect was significant in 96% of the tests. These findings demonstrate that neural markers of stimulus significance driven by emotional picture content and explicit task demands can be assessed at the individual level. Replicating an effect case-after-case provides strong support for an effect common-to-all and may support individual inferences. Contributions of the case-by-case approach to reveal reproducible effects and implications for the development of neural biomarkers for specific affective and cognitive component processes are discussed.


Assuntos
Atenção , Emoções , Feminino , Humanos , Atenção/fisiologia , Emoções/fisiologia , Medo , Vigília , Eletroencefalografia , Potenciais Evocados/fisiologia , Estimulação Luminosa
7.
Eur Heart J ; 44(10): 822-832, 2023 03 07.
Artigo em Inglês | MEDLINE | ID: mdl-36445158

RESUMO

AIMS: The impact of sexuality in patients with significant tricuspid regurgitation (TR) undergoing transcatheter tricuspid valve intervention (TTVI) is unknown. The aim of this study was to investigate sex-specific outcomes in patients with significant TR treated with TTVI vs. medical therapy alone. METHODS AND RESULTS: The Transcatheter Tricuspid Valve Therapies (TriValve) registry collected data on patients with significant TR from 24 centres who underwent TTVI from 2016 to 2021. A control cohort was formed by medically managed patients with ≥severe isolated TR diagnosed in 2015-18. The primary endpoint was freedom from all-cause mortality. Secondary endpoints were heart failure (HF) hospitalization, New York Heart Association (NYHA) functional status, and TR severity. One-year outcomes were assessed for the TriValve cohort and compared with the control cohort with the inverse probability of treatment weighting (IPTW). A total of 556 and 2072 patients were included from the TriValve and control groups, respectively. After TTVI, there was no difference between women and men in 1-year freedom from all-cause mortality 80.9% vs. 77.9%, P = 0.56, nor in HF hospitalization (P = 0.36), NYHA Functional Classes III and IV (P = 0.17), and TR severity >2+ at last follow-up (P = 0.42). Multivariable Cox-regression weighted by IPTW showed improved 1-year survival after TTVI compared with medical therapy alone in both women (adjusted hazard ratio 0.45, 95% confidence interval 0.23-0.83, P = 0.01) and men (adjusted hazard ratio 0.42, 95% confidence interval 0.18-0.89, P = 0.03). CONCLUSION: After TTVI in high-risk patients, there were no sex-related differences in terms of survival, HF hospitalization, functional status, and TR reduction up to 1 year. The IPTW analysis shows a survival benefit of TTVI over medical therapy alone in both women and men.


Assuntos
Insuficiência Cardíaca , Implante de Prótese de Valva Cardíaca , Insuficiência da Valva Tricúspide , Masculino , Humanos , Feminino , Valva Tricúspide/cirurgia , Implante de Prótese de Valva Cardíaca/métodos , Resultado do Tratamento , Sistema de Registros , Insuficiência Cardíaca/complicações
8.
Arch Orthop Trauma Surg ; 144(4): 1793-1802, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38172436

RESUMO

INTRODUCTION: The indications for cementless short-stem total hip arthroplasty (THA) have been expanded due to encouraging results. However, no evidence in cases of femoral neck fractures (FNFs) is available. We aimed to prospectively obtain data on the safety and the clinical outcomes of a cementless calcar-guided short stem in patients with FNFs. MATERIALS AND METHODS: We conducted a prospective observational study of 68 patients diagnosed with FNFs who underwent short-stem THA between 2016 and 2019 with a calcar-guided stem. Complications during follow-up leading to revision were documented, and patient reported outcome measurements recorded. Stem migration was analyzed using the Einzel-Bild-Röntgen-Analysis Femoral Component Analysis software. RESULTS: The mean follow-up was 33.8 ± 14.8 months. The patient mortality at last follow-up was 10.6%. Two patients required stem revision, due to periprosthetic fracture and late aseptic loosening, respectively, corresponding to 96.2% stem survival. Survivorship for the endpoint of revision for any reason was 91.1% at 6 years. All revisions occurred in females. The mean Harris Hip Score at the last follow-up was 93.0 ± 8.9. The mean axial migration at last follow-up was 1.90 ± 1.81 mm. No significant influence on migration was found regarding gender, age, weight, and body mass index. CONCLUSIONS: The clinical and radiological findings were satisfying and most patients benefited from the minimally invasive procedure. However, as for conventional THA as well, implant survivorship and mortality were markedly worse compared to results regarding osteoarthritis. Especially in elderly female patients with FNF, cementless short-stem THA is a concern and a cemented THA should be the first choice.


Assuntos
Artroplastia de Quadril , Prótese de Quadril , Fraturas Periprotéticas , Idoso , Feminino , Humanos , Artroplastia de Quadril/métodos , Fêmur/cirurgia , Colo do Fêmur/cirurgia , Seguimentos , Fraturas Periprotéticas/cirurgia , Desenho de Prótese , Falha de Prótese , Reoperação , Resultado do Tratamento , Masculino
9.
Arch Orthop Trauma Surg ; 144(1): 493-500, 2024 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-37740060

RESUMO

INTRODUCTION: Bone preservation and long-term survival are the main challenges in cementless total hip arthroplasty (THA). A good bone stock is especially important for adequate anchorage of the cup in revision cases. However, the optimal acetabular cup design for preserving good bone stock is still unclear. We aimed to compare clinical outcome, radiological alterations, migration, and wear at mid-term for two different cup types. MATERIALS AND METHODS: This retrospective matched-pair study was performed using the data for 98 THA cases treated with a monoblock cup composed of vitamin E-blended highly cross-linked polyethylene (VEPE; monoblock group) or a modular cup composed of a highly cross-linked polyethylene (HXLPE) without an antioxidant (modular group). Clinical results were evaluated using the Harris Hip Score (HHS). The obtained radiographs were analyzed for radiological alterations, migration, and wear using Einzel-Bild-Röntgen-Analyse (EBRA) software. RESULTS: The mean follow-up duration was 73.2 ± 19.2 months (range: 32-108 months) and 60.5 ± 12.2 months (range: 20-84 months) in the monoblock and modular groups, respectively. HHS improved to 95.7 points in the monoblock group and 97.6 points in the modular group, without significant differences (p = 0.425). EBRA measurements were obtained in all cases. Acetabular bone alterations were not detected on radiological assessments. Mean cup migration was 1.67 ± 0.92 mm (range: 0.46-3.94 mm) and 1.24 ± 0.87 mm (range: 0.22-3.62 mm) in the monoblock and modular groups. The mean wear rate was 0.21 ± 0.18 mm (range: 0.00-0.70 mm) and 0.20 ± 0.13 mm (range: 0.00-0.50 mm) in the monoblock and modular groups. Both migration and wear pattern showed no significant differences (p = 0.741 and 0.243). None of the cases required revision surgery, yielding an implant survival rate of 100% in both groups. CONCLUSION: The isoelastic press-fit monoblock VEPE cup and modular metal-back HXLPE cup showed equivalent mid-term wear and cup migration. Long-term studies are required to determine the effects of modularity, isoelasticity, and polyethylene stabilization with vitamin E on cup loosening and survival rates.


Assuntos
Artroplastia de Quadril , Prótese de Quadril , Humanos , Estudos Retrospectivos , Análise por Pareamento , Artroplastia de Quadril/métodos , Acetábulo/diagnóstico por imagem , Acetábulo/cirurgia , Polietileno/uso terapêutico , Software , Metais , Vitamina E , Desenho de Prótese , Falha de Prótese , Seguimentos
10.
Heart Fail Clin ; 20(1): 61-69, 2024 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-37953022

RESUMO

Elevated left atrial pressure during exercise is a hallmark of heart failure (HF) and is associated with adverse left atrial remodeling and poor outcomes. To decompress the pressure-overloaded left atrium in patients with HF, several device-based approaches have been developed to create a permanent, pressure-dependent, left-to-right interatrial shunt. Such approaches are currently in various stages of investigations in both HF with reduced ejection fraction (EF) and HF with preserved EF. This review discusses the evolution of the concept of left atrial decompression and summarizes the current landscape of device-based approaches used for left atrial decompression.


Assuntos
Fibrilação Atrial , Insuficiência Cardíaca , Humanos , Volume Sistólico , Pressão Atrial , Cateterismo Cardíaco/efeitos adversos , Átrios do Coração/cirurgia , Insuficiência Cardíaca/cirurgia , Insuficiência Cardíaca/etiologia
11.
Circulation ; 146(7): 506-518, 2022 08 16.
Artigo em Inglês | MEDLINE | ID: mdl-35862208

RESUMO

BACKGROUND: Recent trial data suggest that stratification of patients with heart failure with preserved ejection fraction (HFpEF) according to left ventricular ejection fraction (LVEF) provides a means for dissecting different treatment responses. However, the differential pathophysiologic considerations have rarely been described. METHODS: This prospective, single-center study analyzed consecutive symptomatic patients with HFpEF diagnosed according to the 2016 European Society of Cardiology heart failure guidelines. Patients were grouped into LVEF 50% to 60% and LVEF >60% cohorts. All patients underwent cardiac magnetic resonance imaging. Transfemoral cardiac catheterization was performed to derive load-dependent and load-independent left ventricular (LV) properties on pressure-volume loop analyses. RESULTS: Fifty-six patients with HFpEF were enrolled and divided into LVEF 50% to 60% (n=21) and LVEF >60% (n=35) cohorts. On cardiac magnetic resonance imaging, the LVEF >60% cohort showed lower LV end-diastolic volumes (P=0.019) and end-systolic volumes (P=0.001) than the LVEF 50% to 60% cohort; stroke volume (P=0.821) did not differ between the cohorts. Extracellular volume fraction was higher in the LVEF 50% to 60% cohort than in the LVEF >60% cohort (0.332 versus 0.309; P=0.018). Pressure-volume loop analyses demonstrated higher baseline LV contractility (end-systolic elastance, 1.85 vs 1.33 mm Hg/mL; P<0.001) and passive diastolic stiffness (ß constant, 0.032 versus 0.018; P=0.004) in the LVEF >60% cohort. Ventriculo-arterial coupling (end-systolic elastance/arterial elastance) at rest was in the range of optimized stroke work in the LVEF >60% cohort but was impaired in the LVEF 50% to 60% cohort (1.01 versus 0.80; P=0.005). During handgrip exercise, patients with LVEF >60% had higher increases in end-systolic elastance (1.85 versus 0.82 mm Hg/mL; P=0.023), attenuated increases in indexed end-systolic volume (-1 versus 7 mL/m²; P<0.004), and more exaggerated increases in LV filling pressures (8 vs 5 mm Hg; P=0.023). LV stroke volume decreased in the LVEF >60% cohort (P=0.007) under exertion. CONCLUSIONS: Patients with HFpEF in whom LVEF ranged from 50% to 60% demonstrated reduced contractility, impaired ventriculo-arterial coupling, and higher extracellular volume fraction. In contrast, patients with HFpEF and a LVEF >60% demonstrated a hypercontractile state with excessive LV afterload and diminished preload reserve. A LVEF-based stratification of patients with HFpEF identified distinct morphologic and pathophysiologic subphenotypes.


Assuntos
Insuficiência Cardíaca , Função Ventricular Esquerda , Força da Mão/fisiologia , Insuficiência Cardíaca/diagnóstico por imagem , Insuficiência Cardíaca/terapia , Humanos , Estudos Prospectivos , Volume Sistólico/fisiologia , Função Ventricular Esquerda/fisiologia
12.
Clin Exp Allergy ; 53(11): 1162-1176, 2023 11.
Artigo em Inglês | MEDLINE | ID: mdl-37936547

RESUMO

OBJECTIVE: The role of allergy as a risk factor for Long-COVID (LC) is unclear and has not been thoroughly examined yet. We aimed to systematically review and appraise the epidemiological evidence on allergic diseases as risk factors for LC. DESIGN: This is an initial systematic review. Two reviewers independently performed the study selection and data extraction using Covidence. Risk of bias (RoB) and certainty of evidence (GRADE) were assessed. Random effects meta-analyses were used to pool unadjusted ORs within homogeneous data subsets. DATA SOURCES: We retrieved articles published between January 1st, 2020 and January 19th, 2023 from MEDLINE via PubMed, Scopus, the WHO-COVID-19 database and the LOVE platform (Epistemonikos Foundation). In addition, citations and reference lists were searched. ELIGIBILITY CRITERIA: We included prospective cohort studies recruiting individuals of all ages with confirmed SARS-CoV-2 infection that were followed up for at least 12 months for LC symptoms where information on pre-existing allergic diseases was available. We excluded all study designs that were not prospective cohort studies and all publication types that were not original articles. RESULTS: We identified 13 studies (9967 participants, range 39-1950 per study), all assessed as high RoB, due to population selection and methods used to ascertain the exposures and the outcome. Four studies did not provide sufficient data to calculate Odds Ratios. The evidence supported a possible relationship between LC and allergy, but was very uncertain. For example, pre-existing asthma measured in hospital-based populations (6 studies, 4019 participants) may be associated with increased risk of LC (Odds Ratio 1.94, 95% CI 1.08, 3.50) and findings were similar for pre-existing rhinitis (3 studies, 1141 participants; Odds Ratio 1.96, 95% CI 1.61, 2.39), both very low certainty evidence. CONCLUSIONS: Pre-existing asthma or rhinitis may increase the risk of LC.


Assuntos
Asma , COVID-19 , Rinite , Humanos , COVID-19/epidemiologia , Síndrome de COVID-19 Pós-Aguda , SARS-CoV-2 , Estudos Prospectivos , Asma/epidemiologia , Asma/etiologia , Fatores de Risco
13.
Prenat Diagn ; 43(2): 192-206, 2023 02.
Artigo em Inglês | MEDLINE | ID: mdl-36726284

RESUMO

OBJECTIVE: We aimed to investigate how the presence of fetal anomalies and different X chromosome variants influences Cell-free DNA (cfDNA) screening results for monosomy X. METHODS: From a multicenter retrospective survey on 673 pregnancies with prenatally suspected or confirmed Turner syndrome, we analyzed the subgroup for which prenatal cfDNA screening and karyotype results were available. A cfDNA screening result was defined as true positive (TP) when confirmatory testing showed 45,X or an X-chromosome variant. RESULTS: We had cfDNA results, karyotype, and phenotype data for 55 pregnancies. cfDNA results were high risk for monosomy X in 48/55, of which 23 were TP and 25 were false positive (FP). 32/48 high-risk cfDNA cases did not show fetal anomalies. Of these, 7 were TP. All were X-chromosome variants. All 16 fetuses with high-risk cfDNA result and ultrasound anomalies were TP. Of fetuses with abnormalities, those with 45,X more often had fetal hydrops/cystic hygroma, whereas those with "variant" karyotypes had different anomalies. CONCLUSION: Both, 45,X or X-chromosome variants can be detected after a high-risk cfDNA result for monosomy X. When there are fetal anomalies, the result is more likely a TP. In the absence of fetal anomalies, it is most often an FP or X-chromosome variant.


Assuntos
Ácidos Nucleicos Livres , Síndrome de Down , Síndrome de Turner , Gravidez , Humanos , Feminino , Síndrome de Turner/diagnóstico , Síndrome de Turner/genética , Síndrome de Down/diagnóstico , Estudos Retrospectivos , Cromossomo X , Diagnóstico Pré-Natal/métodos
14.
Prenat Diagn ; 43(2): 183-191, 2023 02.
Artigo em Inglês | MEDLINE | ID: mdl-36600414

RESUMO

OBJECTIVE: Omphalocele is known to be associated with genetic anomalies like trisomy 13, 18 and Beckwith-Wiedemann syndrome, but not with Turner syndrome (TS). Our aim was to assess the incidence of omphalocele in fetuses with TS, the phenotype of this association with other anomalies, their karyotype, and the fetal outcomes. METHOD: Retrospective multicenter study of fetuses with confirmed diagnosis of TS. Data were extracted from a detailed questionnaire sent to specialists in prenatal ultrasound. RESULTS: 680 fetuses with TS were included in this analysis. Incidence of small omphalocele in fetuses diagnosed ≥12 weeks was 3.1%. Including fetuses diagnosed before 12 weeks, it was 5.1%. 97.1% (34/35) of the affected fetuses had one or more associated anomalies including increased nuchal translucency (≥3 mm) and/or cystic hygroma (94.3%), hydrops/skin edema (71.1%), and cardiac anomalies (40%). The karyotype was 45,X in all fetuses. Fetal outcomes were poor with only 1 fetus born alive. CONCLUSION: TS with 45,X karyotype but not with X chromosome variants is associated with small omphalocele. Most of these fetuses have associated anomalies and a poor prognosis. Our data suggest an association of TS with omphalocele, which is evident from the first trimester.


Assuntos
Hérnia Umbilical , Síndrome de Turner , Gravidez , Feminino , Humanos , Síndrome de Turner/complicações , Síndrome de Turner/epidemiologia , Síndrome de Turner/genética , Hérnia Umbilical/diagnóstico por imagem , Hérnia Umbilical/epidemiologia , Hérnia Umbilical/genética , Ultrassonografia Pré-Natal , Incidência , Medição da Translucência Nucal , Cariótipo , Edema , Feto , Fenótipo , Aberrações Cromossômicas
15.
Photodermatol Photoimmunol Photomed ; 39(6): 589-597, 2023 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-37409508

RESUMO

BACKGROUND: Sunburn can increase one's risk of developing skin cancer. We aimed to quantify the prevalence of sunburn during recreational outdoor sport (ROS) in summer, to explore the use of different sun protection measures, and to examine factors associated with sunburn during ROS using a population-based sample from Germany. METHODS: For this cross-sectional study, 2081 individuals aged 16-65 years who reported being engaged in ROS in summer were surveyed via standardized telephone interviews in 2020 (National Cancer Aid Monitoring, NCAM). RESULTS: Overall, 16.7% reported experiencing at least one sunburn during ROS in the past twelve months. Sunburn occurrence was negatively associated with the age of the participants (e.g. OR = 0.49 in 56-65 year-olds, p < .001), and positively associated with skin type I/II (OR = 1.55, p < .001) and with having a higher number of nevi (OR = 1.42, p = .005). While wearing sleeved shirts was the most frequently-used sun protection measure during ROS (74.9%), wearing headgear was least common in our sample (29.0%). In multivariate analyses, sunburn was positively associated with the use of sun protection measures (e.g. OR = 1.32 for wearing sleeved shirts, p = .02). CONCLUSIONS: Our nationwide data show that ROS is one of the settings where sun protection should play a greater role. Especially in organized sports, particular attention should be devoted to organizational (e.g. exercise outside peak hours) or contextual measures (e.g. shade by the natural or built environment) to prevent skin cancer in later life.


Assuntos
Neoplasias Cutâneas , Queimadura Solar , Humanos , Queimadura Solar/epidemiologia , Queimadura Solar/prevenção & controle , Protetores Solares/uso terapêutico , Estudos Transversais , Espécies Reativas de Oxigênio , Neoplasias Cutâneas/epidemiologia , Neoplasias Cutâneas/etiologia , Neoplasias Cutâneas/prevenção & controle , Comportamentos Relacionados com a Saúde
16.
BMC Anesthesiol ; 23(1): 344, 2023 10 14.
Artigo em Inglês | MEDLINE | ID: mdl-37838669

RESUMO

BACKGROUND: ICU survivors often suffer from prolonged physical and mental impairments resulting in the so called "Post-Intensive Care Syndrome" (PICS). The aftercare of former ICU patients affected by PICS in particular has not been addressed sufficiently in Germany so far. The aim of this study was to evaluate the feasibility of a pragmatic randomised trial (RCT) comparing an intensive care unit (ICU) follow-up clinic intervention to usual care. METHODS: This pilot study in a German university hospital evaluated the feasibility of a pragmatic RCT. Patients were assigned in a 1:1 ratio to an ICU follow-up clinic intervention or to usual care. The concept of this follow-up clinic was previously developed in a participatory process with patients, next of kin, health care professionals and researchers. We performed a process evaluation and determined acceptability, fidelity, completeness of measurement instruments and practicality as feasibility outcomes. The RCT's primary outcome (health-related quality of life) was assessed six months after ICU discharge by means of the physical component scale of the Short-Form-12 self-report questionnaire. RESULTS: The pilot study was conducted from June 2020 to May 2021 with 21 and 20 participants in the intervention and control group. Principal findings related to feasibility were 85% consent rate (N = 48), 62% fidelity rate, 34% attrition rate (N = 41) and 77% completeness of outcome measurements. The primary effectiveness outcome (health-related quality of life) could be measured in 93% of participants who completed the study (N = 27). The majority of participants (85%) needed assistance with follow-up questionnaires (practicality). Median length of ICU stay was 13 days and 85% (N = 41) received mechanical ventilation, median Sequential Organ Failure Assessment Score was nine. Six-month follow-up assessment was planned for all study participants and performed for 66% (N = 41) of the participants after 197 days (median). CONCLUSION: The participatory developed intervention of an ICU follow-up clinic and the pragmatic pilot RCT both seem to be feasible. We recommend to start a pragmatic RCT on the effectiveness of the ICU follow-up clinic. TRIAL REGISTRATION: ClinicalTrials.gov US NLM, NCT04186468, Submission: 02/12/2019, Registration: 04/12/2019, https://clinicaltrials.gov/ct2/show/NCT04186468.


Assuntos
Unidades de Terapia Intensiva , Qualidade de Vida , Humanos , Seguimentos , Estudos de Viabilidade , Projetos Piloto , Cuidados Críticos , Sobreviventes
17.
Arch Orthop Trauma Surg ; 143(2): 1049-1059, 2023 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-35076767

RESUMO

INTRODUCTION: Short stems are a bone and soft-tissue preserving alternative to conventional stems. The aim of this multicenter study is to present the mid-term outcomes of a calcar-guided short stem. MATERIALS AND METHODS: This is a prospective case series of the first 879 total hip arthroplasties performed on 782 patients across 5 centers using identical calcar-guided short stems. In a mid-term follow-up (6 years), rates and reasons for complications and revisions were documented. The Harris Hip Score (HHS) was obtained; patients reported pain and satisfaction using a visual analog scale. RESULTS: A total of 43 patients died in the study cohort for non-related reasons; 26 patients (3.0%) required at least 1 revision after the index procedure. The survival rate for endpoint stem revision at mid-term was 98.4%. The main reasons for stem revision were aseptic loosening and early periprosthetic fractures. Sex had no influence on stem survival. Older patients or those with a high body mass index showed increased risk for stem revision during follow-up. Dorr type A morphology revealed a significantly lower risk of stem revision than Dorr type B or C (p = 0.0465). The HHS, satisfaction, and load pain at mid-term were 96.5 (SD 8.0), 9.7 (SD 0.9), and 0.5 (SD 1.9), respectively. CONCLUSIONS: This short stem produced highly satisfactory outcomes at mid-term, with 98.4% implant survival for any cause of stem revision and low complication rates. Long-term results are required to further evaluate these promising mid-term results.


Assuntos
Artroplastia de Quadril , Prótese de Quadril , Humanos , Artroplastia de Quadril/efeitos adversos , Artroplastia de Quadril/métodos , Prótese de Quadril/efeitos adversos , Seguimentos , Sobrevivência , Reoperação , Desenho de Prótese , Medidas de Resultados Relatados pelo Paciente , Estudos Retrospectivos , Falha de Prótese , Resultado do Tratamento
18.
Basic Res Cardiol ; 117(1): 55, 2022 11 10.
Artigo em Inglês | MEDLINE | ID: mdl-36355225

RESUMO

Cardiovascular and oncological diseases represent the global major causes of death. For both, a novel and far-reaching risk factor has been identified: clonal hematopoiesis (CH). CH is defined as clonal expansion of peripheral blood cells on the basis of somatic mutations, without overt hematological malignancy. The most commonly affected genes are TET2, DNMT3A, ASXL1 and JAK2. By the age of 70, at least 20-50% of all individuals carry a CH clone, conveying a striking clinical impact by increasing all-cause mortality by 40%. This is due predominantly to a nearly two-fold increase of cardiovascular risk, but also to an elevated risk of malignant transformation. Individuals with CH show not only increased risk for, but also worse outcomes after arteriosclerotic events, such as stroke or myocardial infarction, decompensated heart failure and cardiogenic shock. Elevated cytokine levels, dysfunctional macrophage activity and activation of the inflammasome suggest that a vicious cycle of chronic inflammation and clonal expansion represents the major functional link. Despite the apparently high impact of this entity, awareness, functional understanding and especially clinical implications still require further research. This review provides an overview of the current knowledge of CH and its relation to cardiovascular and hematological diseases. It focuses on the basic functional mechanisms in the interplay between atherosclerosis, inflammation and CH, identifies issues for further research and considers potential clinical implications.


Assuntos
Doenças Cardiovasculares , Humanos , Doenças Cardiovasculares/genética , Hematopoiese Clonal/genética , Hematopoese/genética , Mutação , Inflamação/genética
19.
Eur Radiol ; 32(7): 4340-4351, 2022 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-35184220

RESUMO

OBJECTIVES: To investigate the efficacy of an in-line non-rigid motion-compensated reconstruction (NRC) in an image-navigated high-resolution three-dimensional late gadolinium enhancement (LGE) sequence with Dixon water-fat separation, in a clinical setting. METHODS: Forty-seven consecutive patients were enrolled prospectively and examined with 1.5 T MRI. NRC reconstructions were compared to translational motion-compensated reconstructions (TC) of the same datasets in overall and different sub-category image quality scores, diagnostic confidence, contrast ratios, LGE pattern, and semiautomatic LGE quantification. RESULTS: NRC outperformed TC in all image quality scores (p < 0.001 to 0.016; e.g., overall image quality 5/5 points vs. 4/5). Overall image quality was downgraded in only 23% of NRC datasets vs. 53% of TC datasets due to residual respiratory motion. In both reconstructions, LGE was rated as ischemic in 11 patients and non-ischemic in 10 patients, while it was absent in 26 patients. NRC delivered significantly higher LGE-to-myocardium and blood-to-myocardium contrast ratios (median 6.33 vs. 5.96, p < 0.001 and 4.88 vs. 4.66, p < 0.001, respectively). Automatically detected LGE mass was significantly lower in the NRC reconstruction (p < 0.001). Diagnostic confidence was identical in all cases, with high confidence in 89% and probable in 11% datasets for both reconstructions. No case was rated as inconclusive. CONCLUSIONS: The in-line implementation of a non-rigid motion-compensated reconstruction framework improved image quality in image-navigated free-breathing, isotropic high-resolution 3D LGE imaging with undersampled spiral-like Cartesian sampling and Dixon water-fat separation compared to translational motion correction of the same datasets. The sharper depictions of LGE may lead to more accurate measures of LGE mass. KEY POINTS: • 3D LGE imaging provides high-resolution detection of myocardial scarring. • Non-rigid motion correction provides better image quality in cardiac MRI. • Non-rigid motion correction may lead to more accurate measures of LGE mass.


Assuntos
Meios de Contraste , Gadolínio , Meios de Contraste/farmacologia , Humanos , Aumento da Imagem/métodos , Imageamento Tridimensional/métodos , Imageamento por Ressonância Magnética/métodos , Água
20.
Orthopade ; 51(3): 230-238, 2022 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-34581833

RESUMO

BACKGROUND: Short stems have constantly gained popularity in primary total hip arthroplasty (THA) over the last decade. Although cementless short stems are not primarily designed to be used as revision implants, there may be certain indications for which downsizing the femoral component in failed conventional THA is potentially advantageous. METHODS: In this single center retrospective case series, six patients who underwent revision using a calcar-guided short stem after failed THA are presented. The mean follow-up was 3.32 years (SD 0.63 years). The health status was evaluated by the EQ-5D-5L score. Patient reported outcome measurements (PROM) were recorded using the Harris hip score (HHS) and The Western Ontario and McMaster Universities Osteoarthritis Index (WOMAC). Pain and satisfaction were assessed using a visual analogue scale (VAS). Radiographic analysis was performed by evaluating osteolysis, stress shielding, alignment and signs of aseptic loosening. Complications were documented. RESULTS: At last follow-up the mean EQ-5D-5L index was 0.851 (SD 0.098). Clinical outcome was excellent (HHS ≥ 90) in 4 patients and moderate (HHS 71 and 79) in 2 patients. The mean WOMAC score was 9.20% (SD 12.61%). Pain and satisfaction on VAS were 1.00 (SD 1.15) and 9.17 (SD 0.37), respectively. No major complications occurred. To date, no further revision surgery was needed. Radiologically, no signs of subsidence, aseptic loosening, stress shielding and fractures were obvious. CONCLUSION: The present case series indicates that in failed conventional THA downsizing may be considered a treatment option, using short stem THA in selected cases.


Assuntos
Artroplastia de Quadril , Prótese de Quadril , Artroplastia de Quadril/efeitos adversos , Seguimentos , Prótese de Quadril/efeitos adversos , Humanos , Desenho de Prótese , Reoperação , Estudos Retrospectivos , Resultado do Tratamento
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