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AIM: To describe the aetiological risk factors, clinical characteristics, access to rehabilitation, and educational status of children with cerebral palsy (CP) in Suriname. METHOD: Hospital-based surveillance of children with CP aged younger than 18 years was conducted at the Academic Hospital Paramaribo, Suriname (known as the Suriname CP Register [SUR-CPR]). Data were collected on sociodemographic characteristics, aetiological risk factors, clinical characteristics, rehabilitation, and educational status. Registry data on aetiological risk factors were compared with available national prevalence rates in Suriname. Descriptive statistics were reported. RESULTS: Between August 2018 and March 2020, 82 children with CP (mean [SD] age 5 years 10 months [3 years 10 months]) attending the Academic Hospital Paramaribo were registered in the SUR-CPR. The mean (SD) age at diagnosis was 5 years 5 months (4 years 1 month). Spastic CP was predominant in 90.8% of children and 58.8% were classified in Gross Motor Function Classification System levels III to V. Overall, 43.9% had preterm birth compared with 13.9% reported nationally (p < 0.001) and 61.6% had birth-related complications compared with 15% reported nationally (p < 0.001). Additionally, 39.1% had birth asphyxia and 23.2% had early feeding difficulties. Sixty-two percent were admitted to the neonatal intensive care unit, 54.0% of whom required ventilation. Most children (82.5%) had CP acquired pre- or perinatally and 17.5% had CP acquired postneonatally. Seventeen percent had never received any rehabilitation services, and 31.9% of the school-aged children were not enrolled in any education system. INTERPRETATION: The high burden of known aetiological risk factors, delayed diagnosis, and severe functional impairment among children with CP registered at the Academic Hospital Paramaribo is concerning. Public health interventions targeting early diagnosis and early intervention could improve the functional outcome of children with CP in Suriname.
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Transcranial magnetic stimulation (TMS) and electroencephalography (EEG) are non-invasive techniques used for neuromodulation and recording brain electrical activity, respectively. The integration of TMS-EEG has emerged as a valuable tool for investigating the complex mechanisms involved in age-related disorders, such as mild cognitive impairment (MCI) and Alzheimer's disease (AD). By systematically synthesizing TMS-EEG studies, this review aims to shed light on the neurophysiological mechanisms underlying MCI and AD, while also exploring the practical applications of TMS-EEG in clinical settings. PubMed, ScienceDirect, and PsychInfo were selected as the databases for this review. The 22 eligible studies included a total of 592 individuals with MCI or AD as well as 301 cognitively normal adults. TMS-EEG assessments unveiled specific patterns of corticospinal excitability, plasticity, and brain connectivity that distinguished individuals on the AD spectrum from cognitively normal older adults. Moreover, the TMS-induced EEG features were observed to be correlated with cognitive performance and the presence of AD pathological biomarkers. The comprehensive examination of the existing studies demonstrates that the combination of TMS and EEG has yielded valuable insights into the neurophysiology of MCI and AD. This integration shows great potential for early detection, monitoring disease progression, and anticipating response to treatment. Future research is of paramount importance to delve into the potential utilization of TMS-EEG for treatment optimization in individuals with MCI and AD.
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Enfermedad de Alzheimer , Disfunción Cognitiva , Electroencefalografía , Estimulación Magnética Transcraneal , Humanos , Estimulación Magnética Transcraneal/métodos , Enfermedad de Alzheimer/fisiopatología , Disfunción Cognitiva/fisiopatología , Disfunción Cognitiva/diagnóstico , Electroencefalografía/métodos , AncianoRESUMEN
The objectives of the study were to (i) document refugee, immigrant and migrant (RIM) communities' knowledge, attitudes and beliefs (KABs) related to the Coronavirus disease (COVID-19) vaccine and (ii) identify best practices for developing and disseminating culturally and linguistically responsive health messaging addressing those KABs. Thirteen online focus groups (OFGs) in 10 languages were conducted. Each OFG was conducted in the participants' native language. OFGs were recorded, transcribed, translated and uploaded to qualitative software for coding. A thematic analysis was conducted. Results suggest that while there was some variation between different language groups (e.g. whether religious leaders were seen as trusted sources of information about COVID), there were also important commonalities. Most language groups (i) alluded to hearing about or having gaps in knowledge about COVID-19/the COVID-19 vaccine, (ii) reported hearing negative or conflicting stories about the vaccine and (iii) shared concerns about the negative side effects of the vaccine. There continues to be a need for health messaging in RIM communities that is culturally and linguistically concordant and follows health literacy guidelines. Message content about the COVID-19 vaccine should focus on vaccine importance, effectiveness and safety, should be multimodal and should be primarily delivered by healthcare professionals and community members who have already been vaccinated.
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COVID-19 , Emigrantes e Inmigrantes , Refugiados , Migrantes , Humanos , Vacunas contra la COVID-19 , Ciudades , Conocimientos, Actitudes y Práctica en Salud , COVID-19/prevención & controlRESUMEN
BACKGROUND: Cardiomyopathy is an important cause of heart failure, however, there is notable lack of data on causes and manifestations of cardiomyopathy in Africa. AIMS: The African Cardiomyopathy and Myocarditis Registry Program (IMHOTEP) aims to address the knowledge gap on etiology, treatment, and outcomes of cardiomyopathy in sub-Saharan Africa. METHODS AND RESULTS: We conducted a single-center pilot study to delineate the clinical and cardiovascular magnetic resonance (CMR) phenotypes of cardiomyopathy in South African patients. Assessment of the first 99 adult incident cases [mean age 36.8 ± 12.5 years; females 53.5%] enrolled in IMHOTEP showed that dilated cardiomyopathy (n = 77) was commonest, followed by hypertrophic (n = 13), restrictive (n = 5) and arrhythmogenic (n = 4) cardiomyopathies. A broad range of etiologies were encountered with secondary causes identified in 42% of patients. Onset of symptoms in the peripartum period was observed in 47% of women, and peripartum cardiomyopathy was diagnosed in 32.1% of women recruited. In addition to electrocardiography and echocardiography, CMR was performed in 67 cases and contributed diagnostically in a third of cases. Acute inflammation was rarely observed [2%] on CMR, however, late gadolinium enhancement (LGE) was noted in 92% of cases. CONCLUSION: We report a diverse spectrum of causes of cardiomyopathy in the South African population, with secondary, potentially treatable, etiologies in a significant proportion of cases. CMR was useful in delineating specific phenotypes and etiologies, influencing clinical care. A higher-than-expected burden of LGE was observed in this young patient cohort - the implications of which are yet to be determined.
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Cardiomiopatías , Medios de Contraste , Adulto , Humanos , Femenino , Adulto Joven , Persona de Mediana Edad , Sudáfrica/epidemiología , Proyectos Piloto , Imagen por Resonancia Cinemagnética/métodos , Gadolinio , Cardiomiopatías/diagnóstico por imagen , Cardiomiopatías/epidemiología , Espectroscopía de Resonancia Magnética , Valor Predictivo de las PruebasRESUMEN
BACKGROUND: Cardiotoxicity among breast cancer survivors is associated with chemotherapy and radiation therapy. The risk of cardiovascular disease (CVD) among Asian, Native Hawaiian and Pacific Islander (ANHPI) breast cancer survivors in the United States is unknown. METHODS: We used the SEER-Medicare linked database to estimate the risk of CVD among older breast cancer survivors. International Classification of Disease diagnosis codes were used to identify incident CVD outcomes. Cox proportional hazards models were used to estimate HRs and 95% confidence intervals (CI) comparing ANHPI with Non-Hispanic White (NHW) patients with breast cancer for CVD, and among ANHPI race and ethnicity groups. RESULTS: A total of 7,122 ANHPI breast cancer survivors and 21,365 NHW breast cancer survivors were identified. The risks of incident heart failure and ischemic heart disease were lower among ANHPI compared with NHW breast cancer survivors (HRheart failure, 0.72; 95% CI, 0.61-0.84; HRheart disease, 0.74; 95% CI, 0.63-0.88). Compared with Japanese patients with breast cancer, Filipino, Asian Indian and Pakistani, and Native Hawaiian breast cancer survivors had higher risks of heart failure. ischemic heart disease and death. Among ANHPI breast cancer survivors, risk factors for heart failure included older age, higher comorbidity score, distant cancer stage and chemotherapy. CONCLUSIONS: Our results support heterogeneity in CVD outcomes among breast cancer survivors among ANHPI race and ethnicity groups. Further research is needed to elucidate the disparities experienced among ANHPI breast cancer survivors. IMPACT: Filipino, Asian Indian and Pakistani, and Native Hawaiian patients with breast cancer had higher risks of heart failure, ischemic heart disease and death among ANHPI patients with breast cancer.
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Neoplasias de la Mama , Supervivientes de Cáncer , Enfermedades Cardiovasculares , Insuficiencia Cardíaca , Isquemia Miocárdica , Humanos , Anciano , Estados Unidos/epidemiología , Femenino , Nativos de Hawái y Otras Islas del Pacífico , Enfermedades Cardiovasculares/epidemiología , Enfermedades Cardiovasculares/etiología , Medicare , Insuficiencia Cardíaca/epidemiologíaRESUMEN
Muscle ultrasonography is frequently used to improve the understanding of musculoskeletal impairments in children with spastic cerebral palsy (SCP). So far, most studies on muscle morphology and architecture have included typically developing children and children with SCP with similar ancestry, being mainly Caucasian. Less is known about differences in muscle morphology between children with different ancestral backgrounds. Therefore, the aim of this study was to compare muscle morphology and architecture of the medial gastrocnemius in typically developing children with African, South Asian and Southeast Asian descent from Suriname. This explorative cohort study identified children as Maroon (Ghana, African descent), Hindustani (India, South Asian) or Javanese (Indonesia, Southeast Asian), aged 5-10 years. Using 3D freehand ultrasound with the subject prone, the following medial gastrocnemius parameters were defined: muscle tendon unit (MTU) length, muscle belly length, tendon length, muscle volume, muscle thickness, anatomical cross-sectional area (ACSA), fascicle length, pennation angle, and physiological cross-sectional area (PCSA). In addition, differences between ancestral groups were assessed for the length of the MTU, muscle, tendon and fascicles in two passive stretch conditions corresponding to an externally applied joint torque of 1Nm and 4Nm. One-way ANOVA with post hoc t-tests were used to investigate differences between the ancestral groups. In total, 100 Hindustani (n = 34), Javanese (n = 34) and Maroon (n = 32) children were included. For statistical analyses, we matched the children by age, which resulted in groups of 25 children per ancestral group (n = 75). There were no differences found in MTU length, muscle belly length, ACSA, PCSA and muscle volume. Tendon length, fascicle length and pennation angle were different between ancestral groups. Compared to Javanese children, tendon length was longer (p = 0.001) and pennation angle (p = 0.001) was larger in Maroon children and fascicle length was shorter in both Maroon and Hindustani children (p < 0.001). While there was a difference found in MTU length at different conditions of passive stretch between ancestries, no differences were found in the muscle, tendon and fascicles. This is the first study that investigated macroscopic morphological and architectural parameters for the medial gastrocnemius in one extended cohort of typically developing children, stratified in three ancestral subgroups. The current results imply that ancestry-specific reference data for children are needed, especially for tendon length, fascicle length and pennation angle when investigating altered muscle morphology in neurological or neuromuscular pathologies, such as SCP. Future studies should report the ancestral background when describing muscle morphology and architecture of children and ancestral specifications should be included in normative databases.
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Parálisis Cerebral , Músculo Esquelético , Niño , Humanos , Estudios de Cohortes , Músculo Esquelético/fisiología , Tendones , Parálisis Cerebral/patología , Ultrasonografía/métodosRESUMEN
In recent years, the genetic testing and selection of IVF embryos, known as preimplantation genetic testing (PGT), has gained much traction in clinical assisted reproduction for preventing transmission of genetic defects. However, a more recent ethically and morally controversial development in PGT is its possible use in selecting IVF embryos for optimal intelligence quotient (IQ) and other non-disease-related socially desirable traits, such as tallness, fair complexion, athletic ability, and eye and hair colour, based on polygenic risk scores (PRS), in what is referred to as PGT-P. Artificial intelligence (AI) and machine learning-based analysis of big data sets collated from genome sequencing of specific human ethnic populations can be used to estimate an individual embryo's likelihood of developing such multifactorial traits by analysing the combination of specific genetic variants within its genome. Superficially, this technique appears compliant with Islamic principles and ethics. Because there is no modification of the human genome, there is no tampering with Allah's creation (taghyir khalq Allah). Nevertheless, a more critical analysis based on the five maxims of Islamic jurisprudence (qawa'id fiqhiyyah) that are often utilized in discourses on Islamic bioethics, namely qasd (intention), yaqinÌ (certainty), darar (injury), darura (necessity), and `urf (custom), would instead reveal some major ethical and moral flaws of this new medical technology in the selection of non-disease-related socially desirable traits, and its non-compliance with the spirit and essence of Islamic law (shariah). Muslim scholars, jurists, doctors, and biomedical scientists should debate this further and issue a fatwa on this new medical technology platform.
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BACKGROUND: the objective of this study is to evaluate the predictive power of the survival model using deep learning of diffusion-weighted images (DWI) in patients with non-small-cell lung cancer (NSCLC). METHODS: DWI at b-values of 0, 100, and 700 sec/mm2 (DWI0, DWI100, DWI700) were preoperatively obtained for 100 NSCLC patients who underwent curative surgery (57 men, 43 women; mean age, 62 years). The ADC0-100 (perfusion-sensitive ADC), ADC100-700 (perfusion-insensitive ADC), ADC0-100-700, and demographic features were collected as input data and 5-year survival was collected as output data. Our survival model adopted transfer learning from a pre-trained VGG-16 network, whereby the softmax layer was replaced with the binary classification layer for the prediction of 5-year survival. Three channels of input data were selected in combination out of DWIs and ADC images and their accuracies and AUCs were compared for the best performance during 10-fold cross validation. RESULTS: 66 patients survived, and 34 patients died. The predictive performance was the best in the following combination: DWI0-ADC0-100-ADC0-100-700 (accuracy: 92%; AUC: 0.904). This was followed by DWI0-DWI700-ADC0-100-700, DWI0-DWI100-DWI700, and DWI0-DWI0-DWI0 (accuracy: 91%, 81%, 76%; AUC: 0.889, 0.763, 0.711, respectively). Survival prediction models trained with ADC performed significantly better than the one trained with DWI only (p-values < 0.05). The survival prediction was improved when demographic features were added to the model with only DWIs, but the benefit of clinical information was not prominent when added to the best performing model using both DWI and ADC. CONCLUSIONS: Deep learning may play a role in the survival prediction of lung cancer. The performance of learning can be enhanced by inputting precedented, proven functional parameters of the ADC instead of the original data of DWIs only.
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Many fungi show a strong preference for specific habitats and growth conditions. Investigating the molecular mechanisms of fungal adaptation to varying environmental conditions is of great interest to biodiversity research and is important for many industrial applications. In this study, we compared the transcriptome profiles of two previously genome-sequenced white-rot wood-decay fungi, Trametes pubescens and Phlebia centrifuga, during their growth on two common plant biomass substrates (wheat straw and spruce) at two temperatures (15 °C and 25 °C). The results showed that both fungi partially tailored their molecular responses to different types of carbon sources, differentially expressing genes encoding polysaccharide degrading enzymes, transporters, proteases and monooxygenases. Notably, more lignin modification related AA2 genes and cellulose degradation related AA9 genes were differentially expressed in the tested conditions of T. pubescens than P. centrifuga. In addition, we detected more remarkable transcriptome changes to different growth temperature in P. centrifuga than in T. pubescens, which reflected their different ability to adapt to the temperature fluctuations. In P. centrifuga, differentially expressed genes (DEGs) related to temperature response mainly encode protein kinases, trehalose metabolism, carbon metabolic enzymes and glycoside hydrolases, while the main temperature-related DEGs identified in T. pubescens are only the carbon metabolic enzymes and glycoside hydrolases. Our study revealed both conserved and species-specific transcriptome changes during fungal adaptation to a changing environment, improving our understanding of the molecular mechanisms underlying fungal plant biomass conversion at varying temperatures.
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Trametes , Transcriptoma , Temperatura , Biomasa , Trametes/genética , Trametes/metabolismo , Lignina/metabolismo , Glicósido Hidrolasas/metabolismo , Proteínas Fúngicas/genéticaRESUMEN
Shark depredation is a complex social-ecological issue that affects a range of fisheries worldwide. Increasing concern about the impacts of shark depredation, and how it intersects with the broader context of fisheries management, has driven recent research in this area, especially in Australia and the United States. This review synthesises these recent advances and provides strategic guidance for researchers aiming to characterise the occurrence of depredation, identify the shark species responsible, and test deterrent and management approaches to reduce its impacts. Specifically, the review covers the application of social science approaches, as well as advances in video camera and genetic methods for identifying depredating species. The practicalities and considerations for testing magnetic, electrical, and acoustic deterrent devices are discussed in light of recent research. Key concepts for the management of shark depredation are reviewed, with recommendations made to guide future research and policy development. Specific management responses to address shark depredation are lacking, and this review emphasizes that a "silver bullet" approach for mitigating depredation does not yet exist. Rather, future efforts to manage shark depredation must rely on a diverse range of integrated approaches involving those in the fishery (fishers, scientists and fishery managers), social scientists, educators, and other stakeholders.
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BACKGROUND: Prosthetic valve infective endocarditis (PVE) is associated with high morbidity and mortality. The prevalence of PVE in South African retrospective studies ranges between 13% and 17%. OBJECTIVES: To define the clinical profile and outcomes of patients with PVE, and compare them with those of native valve endocarditis (NVE) patients. METHODS: We performed a prospective observational study of patients presenting or referred to Groote Schuur Hospital, Cape Town, with definite or possible infective endocarditis (IE) based on the 2015 European Society of Cardiology IE diagnostic criteria. Consenting adult patients who met the inclusion criteria were enrolled into the Groote Schuur Hospital Infective Endocarditis Registry, which was approved by the University of Cape Town Human Research Ethics Committee. This study is an analysis of the patients enrolled between 1 January 2017 and 31 December 2019. RESULTS: During the study period, a total of 135 patients received a diagnosis of possible or definite IE (PVE n=18, NVE n=117). PVE therefore accounted for 13.3% of the overall IE cohort. PVE patients had a mean (standard deviation) age of 39.1 (14.6) years, and 56.6% were male. PVE occurred within 1 year of valve surgery in 50.0% of cases. Duke's modified diagnostic criteria for definite IE were met in 94.4% of the PVE cohort. Isolated aortic valve PVE was present in 33.3%, and a combination of aortic and mitral valve PVE in 66.6%. Tissue prosthetic valves were affected in 61.1% of cases. Of the PVE cases, 55.6% were healthcare associated. On transthoracic echocardiography, vegetations (61.1%), prosthetic valve regurgitation (44.4%) and abscesses (22.2%) were discovered. Staphylococcus and Streptococcus species accounted for 38.8% and 22.2% of PVE cases, respectively, and 27.8% of cases were blood culture negative. Valve surgery was performed in 38.7% of the PVE patients, and 55.6% of the patients died during the index hospitalisation. Secondary analysis indicated that the PVE patients were sicker than those with NVE, with a higher frequency of septic shock and atrioventricular block (22.2% v. 7%; p=0.02 and 27.8% v. 12%; p=0.04, respectively). In addition, in-hospital mortality was higher in PVE patients than NVE patients (55.6% v. 31.6%; p=0.04). CONCLUSIONS: PVE was uncommon, mainly affecting tissue prosthetic valves and prosthetic valves in the aortic position. Patients with PVE were sicker than those with NVE and had high in-hospital mortality.
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Endocarditis Bacteriana , Endocarditis , Prótesis Valvulares Cardíacas , Infecciones Relacionadas con Prótesis , Adulto , Endocarditis/diagnóstico , Endocarditis/epidemiología , Endocarditis/etiología , Endocarditis Bacteriana/diagnóstico , Endocarditis Bacteriana/epidemiología , Endocarditis Bacteriana/terapia , Femenino , Prótesis Valvulares Cardíacas/efectos adversos , Mortalidad Hospitalaria , Humanos , Masculino , Infecciones Relacionadas con Prótesis/diagnóstico , Infecciones Relacionadas con Prótesis/epidemiología , Infecciones Relacionadas con Prótesis/terapia , Sistema de Registros , Estudios Retrospectivos , Sudáfrica/epidemiología , Centros de Atención TerciariaRESUMEN
OBJECTIVE: This study aimed to investigate the prognostic significance of dynamic contrast-enhanced computed tomography in patients with stage IA non-small cell lung cancer (NSCLC). METHODS: We retrospectively enrolled 139 patients (77 men, 62 women; mean age, 59 years) with stage IA NSCLC who underwent dynamic contrast-enhanced computed tomography. Data on age, pathologic subtype, peak enhancement, and net enhancement of primary lung cancer were collected and correlated with 5-year survival. RESULTS: Peak enhancement had a significant correlation with overall survival in the univariable analysis (hazard ratio [HR], 1.18, confidence interval [CI], 1.01-1.38; P = 0.04) and in the multivariable analysis (HR, 1.19; CI, 1.01-1.39; P = 0.04). Patients with peak enhancement of 90 Hounsfield unit or higher had a significantly increased risk of death compared with patients with less enhancement after curative surgery (HR, 4.15; CI, 1.23-13.95; P = 0.02). CONCLUSIONS: Our study confirmed the prognostic significance of peak enhancement as an indicator for the overall survival of stage IA NSCLC.
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Carcinoma de Pulmón de Células no Pequeñas , Neoplasias Pulmonares , Femenino , Humanos , Neoplasias Pulmonares/patología , Masculino , Persona de Mediana Edad , Tomografía Computarizada Multidetector , Estadificación de Neoplasias , Pronóstico , Estudios RetrospectivosRESUMEN
Adrenal vein sampling (AVS) is a recommended if not required final diagnostic step in the investigation of primary aldosteronism, the most common cause of remediable secondary hypertension. Successful adrenal vein sampling is operator-dependent. Having performed over 600 such procedures at our centre over 20 years, our single-operator experience is described in detail for the purpose of training future radiologists as well as for use by those who are planning to start an AVS programme of their own. This updated review considers new developments in primary aldosteronism disease understanding that are relevant for AVS performance and protocols, along with technical enhancements that may be used for special cases. Detailed understanding of variant anatomy and tips for successful cannulation are keys to success, along with an endocrinology and clinical chemistry partnership for continuous quality control. A successful AVS programme offers patients a hope for cure of resistant hypertension.
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Glándulas Suprarrenales/irrigación sanguínea , Hiperaldosteronismo/diagnóstico , Humanos , VenasRESUMEN
Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) exhibits strong stability on conventional stainless steel (SS) surface, with infectious virus detected even after two days, posing a high risk of virus transmission via surface touching in public areas. In order to mitigate the surface toughing transmission, the present study develops the first SS with excellent anti-pathogen properties against SARS-COV-2. The stabilities of SARS-CoV-2, H1N1 influenza A virus (H1N1), and Escherichia coli (E.coli) on the surfaces of Cu-contained SS, pure Cu, Ag-contained SS, and pure Ag were investigated. It is discovered that pure Ag and Ag-contained SS surfaces do not display apparent inhibitory effects on SARS-CoV-2 and H1N1. In comparison, both pure Cu and Cu-contained SS with a high Cu content exhibit significant antiviral properties. Significantly, the developed anti-pathogen SS with 20 wt% Cu can distinctly reduce 99.75% and 99.99% of viable SARS-CoV-2 on its surface within 3 and 6 h, respectively. In addition, the present anti-pathogen SS also exhibits an excellent inactivation ability for H1N1 influenza A virus (H1N1), and Escherichia coli (E.coli). Interestingly, the Cu ion concentration released from the anti-pathogen SS with 10 wt% and 20 wt% Cu was notably higher than the Ag ion concentration released from Ag and the Ag-contained SS. Lift buttons made of the present anti-pathogen SS are produced using mature powder metallurgy technique, demonstrating its potential applications in public areas and fighting the transmission of SARS-CoV-2 and other pathogens via surface touching.
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Elevated IgE has been long recognized as an important clinical marker of atopy but can be seen in a myriad of conditions. The discovery of autosomal dominant STAT3 deficiency marked the first recognition of hyper-IgE syndrome (HIES) and the first primary immunodeficiency linked to elevated IgE. Since then, genomic testing has increased the number of defects with associated mutations causing hyper-IgE syndrome and atopic diseases with FLG, DOCK8, SPINK5, and CARD11, among others. A spectrum of recurrent infections and atopy are hallmarks of elevated IgE with significant phenotypic overlap between each underlying condition. As treatment is predicated on early diagnosis, genomic testing is becoming a more commonly used diagnostic tool. We present a 6-year-old male patient with markedly elevated IgE and severe atopic dermatitis presenting with staphylococcal bacteremia found to have a heterozygous variant in FLG (p.S3247X) and multiple variants of unknown significance in BCL11B, ZAP70, LYST, and PTPRC. We review the genetic defects underpinning elevated IgE and highlight the spectrum of atopy and immunodeficiency seen in patients with underlying mutations. Although no one mutation is completely causative of the constellation of symptoms in this patient, we suggest the synergism of these variants is an impetus of disease.
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BACKGROUND: Video directly observed therapy (vDOT) was introduced to increase flexibility and meet patient-specific needs for TB treatment. This study aimed to assess the reach and effectiveness of vDOT for TB treatment under routine conditions in Alameda County, CA, USA, a busy, urban setting, from 2018 to 2020.METHODS: We prospectively evaluated routinely collected data to estimate 1) reach (proportion of patients initiated on vDOT vs. in-person DOT); and 2) effectiveness (proportion of prescribed doses with verified administration by vDOT vs. in-person DOT).RESULTS: Among 163 TB patients, 94 (58%) utilized vDOT during treatment, of whom 54 (57%) received exclusively vDOT. Individuals receiving vDOT were on average younger than those receiving in-person therapy (46 vs. 61 years; P < 0.001). The median time to vDOT initiation was 2.2 weeks (IQR 1.1-10.0); patients were monitored for a median of 27.0 weeks (IQR 24.6-31.9). vDOT led to higher proportions of verified prescribed doses than in-person DOT (68% vs. 54%; P < 0.001). Unobserved self-administration occurred for all patients on weekends based on clinic instructions, but a larger proportion of doses were self-administered during periods of in-person DOT than of vDOT (45% vs. 24%; P < 0.001).CONCLUSION: A TB program successfully maintained vDOT, reaching the majority of patients and achieving greater medication verification than in-person DOT.
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Telemedicina , Tuberculosis , Instituciones de Atención Ambulatoria , Antituberculosos/uso terapéutico , Terapia por Observación Directa , Humanos , Tuberculosis/diagnóstico , Tuberculosis/tratamiento farmacológico , Estados UnidosRESUMEN
PURPOSE: Many patients who undergo bone marrow transplantation (BMT) in adulthood experience unexplained chronic fatigue which can have a major impact on their health-related quality of life (QoL). Pre-BMT treatment regimens increase the risk of developing acquired growth hormone deficiency (GHD), which results in a clinical syndrome with decreased energy and has additionally been linked to metabolic syndrome. METHODS: Using the gold-standard insulin hypoglycemic test (IHT), we evaluated the prevalence of GHD in 18 post-BMT adult patients with unexplained chronic fatigue, as well as the correlation between peak serum GH response and QoL scores, the metabolic syndrome, and insulin resistance. Peak serum GH cut-point less than 3.0 ug/L was used for the diagnosis of severe GHD. The Fatigue Severity Scale and Quality of Life in Adult GHD Assessment questionnaires were used to quantify fatigue symptoms. RESULTS: The prevalence of severe GHD within this sample of 18 patients was 50%. A trend between lower peak serum GH response and higher fatigue and QoL-AGHDA scores was observed. CONCLUSIONS: GHD may represent a remediable contributor to post-BMT chronic fatigue in adults, further studies are needed to evaluate the potential role of screening and GH replacement therapy in this vulnerable patient population. IMPLICATIONS FOR CANCER SURVIVORS: GHD may be a treatable explanation for disabling post-BMT fatigue pending results of intervention studies.
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Trasplante de Médula Ósea/efectos adversos , Síndrome de Fatiga Crónica , Hormona del Crecimiento , Síndrome Metabólico , Complicaciones Posoperatorias , Calidad de Vida , Trasplante de Médula Ósea/métodos , Supervivientes de Cáncer , Estudios Transversales , Síndrome de Fatiga Crónica/etiología , Síndrome de Fatiga Crónica/metabolismo , Síndrome de Fatiga Crónica/psicología , Síndrome de Fatiga Crónica/terapia , Femenino , Hormona del Crecimiento/sangre , Hormona del Crecimiento/deficiencia , Terapia de Reemplazo de Hormonas/métodos , Humanos , Resistencia a la Insulina , Masculino , Síndrome Metabólico/diagnóstico , Síndrome Metabólico/etiología , Persona de Mediana Edad , Complicaciones Posoperatorias/diagnóstico , Complicaciones Posoperatorias/metabolismo , Complicaciones Posoperatorias/psicología , Complicaciones Posoperatorias/terapia , Prevalencia , Encuestas y Cuestionarios , Evaluación de Síntomas/métodosRESUMEN
BACKGROUND: Early childhood is a critical period for growth and development, yet the association with physical activity during this important period is unknown. The aim of this review is to critically summarize the evidence on the prospective associations between physical activity and health and development in children aged < 5 years. METHODS: A systematic search in three electronic databases (Pubmed, PsycINFO, and Sportdiscus) was conducted to identify prospective studies examining the associations between physical activity (all types; specified by quantity) and health indicators (body composition, cardiometabolic health, bone health and risks/harm) or development (motor, cognitive and social-emotional development) in young children (mean age < 5 years at baseline). Two independent researchers assessed the methodological quality using the 'Quality Assessment Tool for Quantitative Studies' (EPHPP). This tool covers eight quality criteria: selection bias, study design, confounders, blinding, data collection methods, withdrawals and drop-outs, intervention integrity and data-analysis. RESULTS: Thirty-nine studies, predominantly conducted in preschoolers (ages 3-5 years), were included of which nine were rated as high methodological quality. There was moderate evidence for a positive association between physical activity and motor (n = 11 studies) and cognitive development (n = 10 studies) based on consistent findings from studies having low-to-moderate methodological quality. There was insufficient evidence for an association between physical activity and body composition (n = 15 studies), cardiometabolic health indicators (n = 7 studies), social-emotional development (n = 2 studies) and bone health (n = 2 studies) based on inconsistent findings from studies having weak-to-high methodological quality. CONCLUSIONS: There is a need for more high-quality research in order to determine the dose-response relationship between physical activity and health and development in early childhood. Special attention should be paid to studies in children below the age of 3 years.