Miracle-dz/UniFAR-FTUs huggingface dataset:
Wilson Disease Prevalence: Discrepancy Between Clinical Records, Registries and Mutation Carrier Frequency

Supplemental Digital Content is available in the text ABSTRACT Objectives: Diagnosis of Wilson disease (WD) is difficult and, as early detection may prevent all symptoms, it is essential to know the exact prevalence to evaluate the cost-efficacy of a screening program. As the number of WD patients was high in our population, we wished to estimate prevalence by determining the carrier frequency for clinically relevant ATP7B mutations. Methods: To estimate prevalence, screening for the most prevalent mutation was performed in 1661 individuals with ancestry in Gran Canaria, and the frequency of other mutations was estimated from patient records. Alternatively, ATP7B mutations were detected from exomes and genomes from 851 individuals with Canarian ancestry, 236 from Gran Canaria, and a public Spanish exome database. Results: Estimated carrier frequencies in Gran Canaria ranged from 1 in 20 to 28, depending on the method used, resulting in prevalences of 1 case per 1547 to 3140 inhabitants. Alternatively, the estimated affected frequencies were 1 in 5985 to 7980 and 1 in 6278 to 16,510 in the archipelago or mainland Spain respectively. Conclusions: The number of carriers predicts much higher prevalences than reported, suggesting that WD is underdiagnosed; specific mutations may remain unnoticed due to low penetrance or no signs of disease at all; regional prevalence rather than national prevalence should be considered in cost-efficacy models to approach preventive screening in the asymptomatic population and genetic screening strategies will have to deal with the genetic heterogeneity of ATP7B in the general population and in patients.
Efficacy and safety of acupuncture in the treatment of depression: A systematic review of clinical research

As a common mental disorder, depression is one of the leading causes of disability around the world. Clinical studies have shown that acupuncture is an effective therapy without obvious side effects compared to limited efficacy and adverse reactions of drug therapy, cognitive behavioral therapy, and neuromodulation technology in treating depression. The objective of this review is to systematically evaluate whether acupuncture therapies for depression are safe and effective in order to provide a high‐quality reference for clinical trials of acupuncture. A systematic search of the literature was carried out through bibliographic search engine PubMed. Subsequently, the study design, intervention methods, control group, results, and safety of acupuncture were analyzed. The results showed that acupuncture as an adjunct to antidepressants or as a single treatment can exert a positive impact on patients' depressive symptoms. Compared with antidepressants, acupuncture has the advantages of fast onset and long‐term efficacy in the treatment of depression, and can enhance the efficacy of antidepressants. Moreover, the efficacy and safety of acupuncture in the treatment of depression maybe related to the qualification of the acupuncturist, the selection of acupoints, and intervention measures.
Local complications of insulin administration sites and effect on diabetes management.

BACKGROUND Administration of insulin may be associated with substantial cutaneous adverse effects, such as lipoatrophy and lipohypertrophy (LH), which can cause glycemic excursions above and below the target levels for blood glucose. Our aim was to evaluate the effect on compliance with the use of insulin administration site, dermatological complications and diabetes management in children with type 1 diabetes (T1D). METHODS Patients aged 0 - 21 years who were followed up with the diagnosis of T1D for at least one year were included. A 14-question survey including demographic characteristics and a subjective opinion of skin-related complications of insulin administration was given. Data were obtained from the medical records to evaluate the effect of dermatological complications on diabetes management. This study was checked with the STROBE checklist. RESULTS Two hundred and fifty-four patients were included and 53% of these were female. The mean age was 14.9 ± 4.7 years and the duration of T1D was 7.3 ± 4.1 years. The mean HbA1c level was 8 ± 1.4% and the mean total insulin dose was 0.84 ± 0.25 units/kg/day. More than half of the individuals (57%) were receiving multiple daily injections (MDI) and 43% were on insulin pump therapy (IPT). Of the participants, 11.8% reported LH, 7.5% wound, 21.7% allergy, 55.5% bleeding, 41.3% bruising and 47.2% pain. LH rates varied significantly by regimen, 17.1% in MDI and 4.6% with IPT (p = .001). Those with LH were using higher median doses of insulin (0.97 U/kg/day) than those who did not (0.78 U/kg/day; p = .016). LH was reported more frequently (18.3%) in patients with frequent hypoglycemia (p = .007). Positive correlation between BMI-SDS and LH in patients aged <18 years was found (p = .043). LH rates by site were: right arm 20.8%, left arm 26.4%, right abdomen 26.4%, left abdomen 22.6% and 1% in the right and left leg. CONCLUSIONS Local complications of insulin therapy are common in young patients with T1D. The complication with the most impact on metabolic control was LH, present in nearly 12% of patients. Users of IPT have a significantly lower risk of LH. The results emphasise the importance of individualised education for young T1D patients and their families about injection site preference and rotation techniques. RELEVANCE TO CLINICAL PRACTICE The diabetes team should check the insulin administration sites of children with type 1 diabetes at each visit and provide repeated education about the dermatological complications of insulin.
Factors influencing participation in educational workshops as part of a pulmonary rehabilitation program in patients with chronic obstructive pulmonary disease: a retrospective study

ABSTRACT Background Pulmonary rehabilitation (PR) (primarily composed of an exercise training program (ET) and educational workshops) is an effective intervention for patients with chronic obstructive pulmonary disease. Although factors which influence participation in the full PR program have been reported, specific data on the educational component of PR have not been published. We aimed to identify factors which predict refusal to participate in the educational component of PR. Research design and methods 201 patient charts were retrospectively included in the analysis. Patients were classified according to their acceptance or refusal to participate in the educational workshops. Results The location of ET outside the center was independently related to refusal to participate in the educational workshops (OR = 0.01 [95%CI 0.00 to 0.17]). Patients who refused the workshops were less disabled according to the number of prescriptions of noninvasive ventilation, use of medical transport, oxygen consumption and workload achieved during cardiopulmonary exercise testing. Conclusions The location of exercise sessions during PR influences patients’ decisions to refuse or accept center-based educational workshops. When center-based PR programs are limited, and the ET is relocated to the patient’s home, the educational workshops should also be relocated. Trial registration The trial is registered at ClinicalTrials.gov (NCT04301245).
Adaptation and Psychometric Evaluation of the Parenting Concerns Questionnaire—Advanced Disease

Purpose: When patients with advanced cancer have minor children (age < 18), their health-related quality of life is closely linked to their concerns about the impact of progressive illness and death on their children. The Parenting Concerns Questionnaire (PCQ), a validated measure for parents with cancer, does not capture the full range of concerns in advanced cancer. The aim of this was study was to adapt and establish psychometrics for the PCQ for advanced disease (PCQ-AD). Methods: After generating an initial item-bank, we conducted concept elicitation interviews with clinicians (n = 8) and cognitive interviews with patients (n = 23) for face validity. New items addressed concerns about impact of parental death, making every moment count, communication, and financial impact of cancer on children. We administered 21 candidate items to 151 parents with advanced cancer. We conducted confirmatory factor analysis (CFA), calculated internal consistency, and assessed convergent and known-groups validity. Results: We removed 8 redundant items due to residual covariation between items. CFA of the 13-item PCQ-AD demonstrated satisfactory fit (CFI = 0.971, TLI = 0.966, RMSEA = 0.081) and high internal consistency (Cronbach’s alpha = 0.94, composite reliability = 0.95). The PCQ-AD demonstrated convergent validity and known-groups validity; patients with poor functional status reported higher scores than patients with better functional status (Cohen’s d = 0.56, p = 0.002). Conclusion: Adaptation of the PCQ yielded the addition of constructs important in advanced cancer. The PCQ-AD appears to be a reliable and valid measure of parenting concerns in advanced cancer, but future studies are needed to examine measure performance in diverse populations and responsiveness of the PCQ-AD to interventions.
Prognostic signatures and potential pathogenesis of eRNAs‐related genes in colon adenocarcinoma

Enhancer RNAs (eRNAs) are a subclass of long noncoding RNAs (lncRNAs) that have a wide effect in human tumors. However, the systematic analysis of potential functions of eRNAs‐related genes (eRGs) in colon cancer (CC) remains unexplored. In this study, a total of 8231 eRGs including 6236 protein‐coding genes and 1995 lncRNAs were identified in CC based on the multiple resources. These eRGs showed higher expression level and stability compared to other genes. What's more, the functions of these eRGs were closely related to cancer. Then a prognostic prediction model with 12 eRGs signatures were obtained for colon adenocarcinoma (COAD) patients. ROC curves showed the AUCs were 0.81, 0.77, and 0.78 for 1‐, 3‐, and 5‐year survival prediction, respectively. And the prognostic model also manifested good performance in the validation datasets. Besides, the expression levels of two prognostic signatures, TMEM220 and LRRN2, were verified to be significantly lower in CC tissues than in adjacent noncancerous tissues (p < .05). Finally, the distinct molecular features were characterized between the high‐ and low‐risk group through multiomics analysis including DNA mutation and methylation. Our results show eRGs signatures based prognostic model has high accuracy and may provide innovative biomarkers in COAD.
A rapid global review of strategies to improve influenza vaccination uptake in Australia

ABSTRACT This study aimed to identify effective strategies for improving the uptake of influenza vaccination and to inform recommendations for influenza vaccination programs in Australia. A rapid systematic review was conducted to assimilate and synthesize peer-reviewed articles identified in PubMed. The National Health and Medical Research Council (NHMRC) Hierarchy of Evidence was used to appraise the quality of evidence. A systematic search identified 4373 articles and 52 that met the inclusion criteria were included. The evidence suggests influenza vaccination uptake may be improved by interventions that (1) increase community/patient demand and access to influenza vaccine and overcome practice-related barriers; (2) reinforce the critical role healthcare providers play in driving influenza vaccination uptake. Strategies such as standing orders, reminder and recall efforts were successful in improving influenza vaccination rates. Community pharmacies, particularly in regional/remote areas, are well positioned to improve influenza vaccine coverage. The findings of this rapid review can be utilized to improve the performance of influenza immunization programs in Australia and other countries with comparable programs; and recommend priorities for future evaluation of interventions to improve influenza vaccination uptake.
Smooth pursuit operates over perceived not physical positions of the double-drift stimulus

The double-drift illusion produces a large deviation in perceived direction that strongly dissociates physical position from perceived position. Surprisingly, saccades do not seem to be affected by the illusion (Lisi & Cavanagh, 2015). When targeting a double-drift stimulus, the saccade system is driven by retinal rather than perceived position. Here, using paired double-drift targets, we test whether the smooth pursuit system is driven by perceived or physical position. Participants (n = 7) smoothly pursued the inferred midpoint (Steinbach, 1976) between two horizontally aligned Gabor patches that were separated by 20° and moving on parallel, oblique paths. On the first half of each trial, the Gabors’ internal textures were static while both drifted obliquely downward. On the second half of each trial, while the envelope moved obliquely upward, the internal texture drifted orthogonally to the envelope's motion, producing a large perceived deviation from the downward path even though the upward and downward trajectories always followed the same physical path but in opposite directions. We find that smooth pursuit eye movements accurately followed the nonillusory downward path of the midpoint between the two Gabors, but then followed the illusory rather than the physical trajectory on the upward return. Thus, virtual targets for smooth pursuit are derived from perceived rather than retinal coordinates.
Vanadium Supported on Alumina and/or Zirconia Catalysts for the Selective Transformation of Ethane and Methanol

Vanadium supported on pure (Al2O3, ZrO2) or mixed zirconia-alumina (with Al/(Al + Zr) ratio of 0.75 or 0.25) catalysts have been prepared by wet impregnation, using homemade prepared supports. The catalysts have been characterized and tested in the oxidative dehydrogenation (ODH) of ethane and in the methanol aerobic transformation. The catalytic performance strongly depends on the nature of the metal oxide support. Thus, activity decreases in the order: VOx/ZrO2 > VOx/(Al,Zr-oxides) > VOx/Al2O3. On the other hand, at low and medium ethane conversions, the selectivity to ethylene presents an opposite trend: VOx/Al2O3 > VOx/(Al,Zr-oxides) > VOx/ZrO2. The different selectivity to ethylene at high conversion is due to the lower/higher initial ethylene formation and to the extent of the ethylene decomposition. Interestingly, VOx/(Al,Zr-oxides) with low Zr-loading present the lowest ethylene decomposition. The catalytic results obtained mainly depend on the nature of the supports whereas the role of the dispersion of vanadium species is unclear. In methanol oxidation, the catalysts tested present similar catalytic activity regardless of the support (Al2O3, ZrO2 or mixed Al2O3-ZrO2) but strong differences in the selectivity to the reaction products. Thus, dimethyl ether was mainly observed on alumina-supported vanadium oxide catalysts (which is associated to the presence of acidic sites on the surface of the catalyst, as determined by TPD-NH3). Formaldehyde was the main reaction product on catalysts supported on Zr-containing oxides (which can be related to a low presence of acid sites). In this article, the importance of the presence of acid sites in ethane ODH, which can be estimated using the methanol transformation reaction, is also discussed.
Updates in the understanding and management of diverticular disease

Purpose of review Diverticulosis leads to significant morbidity and mortality and is increasing in prevalence worldwide. In this paper, we review the clinical features, diagnosis, and management of diverticular disorders, followed by a discussion of recent updates and changes in the clinical approach to diverticular disease. Recent findings Recent literature suggests that antibiotics are likely not necessary for low-risk patients with acute uncomplicated diverticulitis, and not all patients with recurrent diverticulitis require colectomy. Dietary restrictions do not prevent recurrent diverticulitis. Visceral hypersensitivity is increasingly being recognized as a cause of persistent abdominal pain after acute diverticulitis and should be considered along with chronic smoldering diverticulitis, segmental colitis associated with diverticula, and symptomatic uncomplicated diverticular disease. Summary Clinicians should be aware that traditionally held assumptions regarding the prevention and management of diverticular disorders have recently been called into question and should adjust their clinical practice accordingly.
Association between previous rheumatoid arthritis and COVID-19 and its severity: a nationwide cohort study in South Korea

Objectives The prevalence of rheumatoid arthritis (RA) among patients with COVID-19 and the association between RA and the outcome of COVID-19 remain unclear. We aimed to compare the prevalence of RA between participants with and without COVID-19; we then analysed the association between the presence of RA and the severity of COVID-19. Design A cross-sectional study. Setting Data from a nationwide COVID-19 cohort database by the Korea National Health Insurance Corporation were used. Participants and interventions A total of 8070 patients with COVID-19 (1 January 2020 through 4 June 2020) were matched with 32 280 control participants with regard to age, sex and income. Patients with COVID-19 were confirmed by SARS-CoV-2 PCR and controls were collected from the database. RA was confirmed using the diagnostic code (International Classification of Disease, Tenth Revision) and medication claim codes. Conditional/unconditional logistic regression was applied to analyse the association between RA and COVID-19. Primary outcome and secondary outcome Laboratory confirmation of SARS-CoV-2 infection was defined as the primary outcome. The secondary outcome was severe COVID-19 defined as a history of intensive care unit admission, invasive ventilation or death. Results The prevalence of RA in the COVID-19 (0.4%, 35/8070) and control (0.4%, 121/32,280) groups did not differ (p=0.446). After adjusting for underlying diseases, no association between RA and COVID-19 was observed (adjusted OR=1.14, 95% CI: 0.78 to 1.67) and COVID-19 severity was not associated with RA (adjusted OR=0.62, 95% CI: 0.14 to 7.29). The overall mortality rate was 2.9% (237/8070) and RA was not significantly associated with mortality (adjusted OR=1.64, 95% CI: 0.33 to 8.15). Conclusion We did not find an association between the presence of RA and COVID-19. In addition, RA was not associated with the severity of COVID-19.
Ambiguities in blood pressure management in acute ischaemic stroke.

INTRODUCTION Blood pressure management in acute ischaemic stroke is crucial. Here we highlight uncertainties surrounding haemodynamic management in acute ischaemic stroke on the basis of current guidelines and the data available from recent studies. This review provides practical treatment options and suggestions for future research. STATE OF THE ART The U-shaped relationship between baseline blood pressure value and patients' functional outcome or death is well established. Nonetheless, there is scant evidence for the benefits of early pharmacological intervention. Current guidelines differentiate blood pressure targets on the basis of implemented reperfusion treatment and allow blood pressure reduction in certain clinical situations. However, there is a substantial lack of evidence to guide management during acute stroke. CLINICAL IMPLICATIONS Taking into account several aspects of blood pressure management can improve stroke care, although they are not included in current guidelines. To make an optimal decision as to whether to intervene regarding blood pressure, it is important to consider dehydration, recanalisation status, blood pressure variability, and autoregulation state as measured by novel imaging techniques. FUTURE DIRECTIONS Further trials considering patient-specific factors with the use of continuous monitoring of blood pressure, as well as neurovascular imaging, are needed to resolve the current ambiguities.
Reduced Semantic Context and Signal-to-Noise Ratio Increase Listening Effort As Measured Using Functional Near-Infrared Spectroscopy

Objectives: Understanding speech-in-noise can be highly effortful. Decreasing the signal-to-noise ratio (SNR) of speech increases listening effort, but it is relatively unclear if decreasing the level of semantic context does as well. The current study used functional near-infrared spectroscopy to evaluate two primary hypotheses: (1) listening effort (operationalized as oxygenation of the left lateral PFC) increases as the SNR decreases and (2) listening effort increases as context decreases. Design: Twenty-eight younger adults with normal hearing completed the Revised Speech Perception in Noise Test, in which they listened to sentences and reported the final word. These sentences either had an easy SNR (+4 dB) or a hard SNR (−2 dB), and were either low in semantic context (e.g., “Tom could have thought about the sport”) or high in context (e.g., “She had to vacuum the rug”). PFC oxygenation was measured throughout using functional near-infrared spectroscopy. Results: Accuracy on the Revised Speech Perception in Noise Test was worse when the SNR was hard than when it was easy, and worse for sentences low in semantic context than high in context. Similarly, oxygenation across the entire PFC (including the left lateral PFC) was greater when the SNR was hard, and left lateral PFC oxygenation was greater when context was low. Conclusions: These results suggest that activation of the left lateral PFC (interpreted here as reflecting listening effort) increases to compensate for acoustic and linguistic challenges. This may reflect the increased engagement of domain-general and domain-specific processes subserved by the dorsolateral prefrontal cortex (e.g., cognitive control) and inferior frontal gyrus (e.g., predicting the sensory consequences of articulatory gestures), respectively.