Miracle-dz/UniFAR-FTUs huggingface dataset:
Development and validation of a nomogram for predicting the risk of obstructive sleep apnea in patients with type 2 diabetes

Background Obstructive sleep apnea (OSA) is highly prevalent among patients with type 2 diabetes mellitus (T2DM) in China, but few patients with clinical symptoms of OSA are referred for diagnostic polysomnography (PSG). Thus, this study aimed to develop and validate an easy-to-use nomogram that predicts the severity of OSA in patients with T2DM. Methods This retrospective study included consecutive patients with T2DM admitted to the Endocrinology Department, Third Affiliated Hospital of Soochow University between January 1, 2016 and December 31, 2019. OSA was diagnosed with PSG. Participants were randomly assigned to a training cohort (70%) and a validation cohort (30%). Demographic, anthropometric, and biochemical data were collected. A least absolute shrinkage and selection operator (LASSO) regression model was used to reduce data dimensionality and identify factors for inclusion in the nomogram (training cohort). Nomogram validation was performed in the validation cohort. Results The study included 280 participants in the training group and 118 participants in the validation group. OSA prevalence was 58.5%. LASSO regression identified waist-to-hip ratio (WHR), smoking status, body mass index (BMI), serum uric acid (UA), the homeostasis model assessment insulin resistance index (HOMA-IR), and history of fatty liver disease as predictive factors for inclusion in the nomogram. Discrimination and calibration in the training group (C-index =0.88) and validation group (C-index =0.881) were good. The nomogram identified patients with T2DM at risk for OSA with an area under the curve of 0.851 [95% confidence interval (CI), 0.788–0.900]. Conclusions Our nomogram could be used to facilitate individualized prediction of OSA risk in patients with T2DM and help prioritize patients for diagnostic PSG.
Puberty and fertility in classic galactosemia

Classic galactosemia is a rare inborn error of galactose metabolism with a birth prevalence of about 1/30,000–60,000. Long-term complications occurring despite dietary treatment consist of premature ovarian insufficiency (POI) and neurodevelopmental impairments. We performed with the French Reference Centers for Rare Diseases a multisite collaborative questionnaire survey for classic galactosemic patients. Its primary objective was to assess their puberty, pregnancy, gonadotropic axis, and pelvic morphology by ultrasound. The secondary objective was to determine predictive factors for pregnancy without oocyte donation. Completed questionnaires from 103 patients, 56 females (median age, 19 years (3–52 years)) and 47 males (median age, 19 years (3–45 years)), were analyzed. Among the 43 females older than 13 years old, mean age for breast development first stage was 13.8 years; spontaneous menarche occurred in 21/31 females at a mean age of 14.6 years. In these 21 women, 62% had spaniomenorrhea and 7/17 older than 30 years had amenorrhea. All age-groups confounded, FSH was above reference range for 65.7% of the patients, anti-Müllerian hormone and inhibin B were undetectable, and the ovaries were small with few or no follicles detected. Among the 5 females who sought to conceive, 4 had pregnancies. Among the 47 males, 1 had cryptorchidism, all have normal testicular function and none had a desire to conceive children. Thus, spontaneous puberty and POI are both common in this population. Spontaneous menarche seems to be the best predictive factor for successful spontaneous pregnancy.
Transareolar single-port endoscopic thoracic sympathectomy with a flexible endoscope for primary palmar hyperhidrosis: a prospective randomized controlled trial

Background Transareolar single-port endoscopic thoracic sympathectomy (ETS) with a flexible endoscope has rarely been reported. This study assessed the performance of this novel minimally invasive technique for primary palmar hyperhidrosis (PPH). Methods From January 2019 to September 2019, 118 males with severe PPH requiring single-port and bilateral ETS were randomly allocated to undergo transareolar ETS using a flexible endoscope (group A, n=58) or transaxillary ETS using a 5 mm thoracoscope (group B, n=60). Results Both groups had similar patient characteristics. All procedures were performed successfully, with no mortality or conversion to open surgery. All patients had dry and warm palms immediately after surgery. Compared with group B, group A had a significantly shorter median incision length [5.1 (5.0–5.2) vs. 10.9 (10.8–11.9) mm; P<0.001], and significantly lower median postoperative pain score [1 (1.0–2.0) vs. 3 (3.0–4.0); P<0.001]. There were no differences between the two groups in operative time, palmar temperature increase, and transient postoperative sweating. After complete follow-up, group A had a significantly higher median cosmetic score than group B [4.0 (3.0–4.0) vs. 3.0 (3.0–3.0); P<0.001]. There were no differences between the two groups regarding symptom resolution, compensatory hyperhidrosis, and satisfaction score. No patient reported residual pain or symptom recurrence. Conclusions Transareolar single-port ETS with a flexible endoscope is safe, effective, and minimally invasive with a small incision, minimal pain, and excellent cosmetic results. This novel procedure is suitable for routine treatment of PPH in males.
Psychometric Properties of the Preparedness Assessment for the Transition Home After Stroke Instrument.

PURPOSE The aim of this study was to evaluate psychometric properties of the Preparedness Assessment for the Transition Home After Stroke (PATH-s), a novel instrument to assess stroke caregiver commitment and capacity. DESIGN The design of this study is cross-sectional. METHODS The PATH-s, the Preparedness for Caregiving Scale (PCS), the Patient Health Questionnaire, the Perceived Stress Scale, and the Global Health Scale were self-reported from a convenience sample of caregiver-stroke survivor dyads (n = 183) during inpatient rehabilitation. RESULTS Exploratory factor analysis revealed eight factors underlying the PATH-s structure. The PATH-s Cronbach's alpha of . 90 demonstrated criterion-related validity with the PCS (r = .79, p < .01). Both the PATH-s and the PCS were negatively correlated with the Patient Health Questionnaire (r = -.26 and -.27, respectively; p < .01) and the Perceived Stress Scale (r = -.12 and -.15, respectively; p > .05) and positively correlated with the Global Health Scale (r = -.46 and .46, respectively; p < .01), indicating convergent validity. CONCLUSIONS The PATH-s demonstrates excellent internal consistency and satisfactory criterion-related and convergent validity. CLINICAL RELEVANCE The PATH-s may be used to assess the risk/needs of caregivers over time.
Drivers of Infectious Disease Seasonality: Potential Implications for COVID-19

Not 1 year has passed since the emergence of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), the causative agent of coronavirus disease 2019 (COVID-19). Since its emergence, great uncertainty has surrounded the potential for COVID-19 to establish as a seasonally recurrent disease. Many infectious diseases, including endemic human coronaviruses, vary across the year. They show a wide range of seasonal waveforms, timing (phase), and amplitudes, which differ depending on the geographical region. Drivers of such patterns are predominantly studied from an epidemiological perspective with a focus on weather and behavior, but complementary insights emerge from physiological studies of seasonality in animals, including humans. Thus, we take a multidisciplinary approach to integrate knowledge from usually distinct fields. First, we review epidemiological evidence of environmental and behavioral drivers of infectious disease seasonality. Subsequently, we take a chronobiological perspective and discuss within-host changes that may affect susceptibility, morbidity, and mortality from infectious diseases. Based on photoperiodic, circannual, and comparative human data, we not only identify promising future avenues but also highlight the need for further studies in animal models. Our preliminary assessment is that host immune seasonality warrants evaluation alongside weather and human behavior as factors that may contribute to COVID-19 seasonality, and that the relative importance of these drivers requires further investigation. A major challenge to predicting seasonality of infectious diseases are rapid, human-induced changes in the hitherto predictable seasonality of our planet, whose influence we review in a final outlook section. We conclude that a proactive multidisciplinary approach is warranted to predict, mitigate, and prevent seasonal infectious diseases in our complex, changing human-earth system.
Age‐related differences in morbidity and mortality after surgery for primary clinical T4 and locally recurrent rectal cancer

Outcomes in elderly patients (≥75 years) with non‐advanced colorectal cancer have improved. It is unclear whether this is also true for elderly patients with clinical T4 rectal cancer (cT4RC) or locally recurrent rectal cancer (LRRC). We aimed to compare age‐related differences in morbidity and mortality after curative treatment for cT4RC and LRRC.
Hematopoietic stem cell transplantation for inherited bone marrow failure syndromes: alternative donor and disease-specific conditioning regimen with unmanipulated grafts

ABSTRACT Objective: The outcomes of alternative donor hematopoietic stem cell transplantation (HSCT) with unmanipulated grafts for Inherited bone marrow failure syndromes (IBMFS) are discouraging. Our study is to demonstrate that IBMFS with disease-specific characteristics requires a tailored conditioning regimens to enhance engraftment and reduce regimen related toxicities. Methods: We retrospectively analyzed 42 patients diagnosed with IBMFS and transplanted with an alternative donor graft at our center from November 2012 to August 2018. Twenty-seven patients had Fanconi anemia (FA), 7 had dyskeratosis congenita (DC), and 8 had severe congenital neutropenia (SCN). Patients received ex-vivo unmanipulated alternative donor grafts from a matched unrelated donor (MUD) (n = 22), haploidentical donor (HID) (n = 17) and unrelated cord blood donor (UCBD) (n = 3). FA and DC patient subgroups received reduce intensified conditioning (RIC), while SCN patients received a myeloablative conditioning (MAC) regimen. Results: The median follow-up time for the surviving patients was 38 months (range: 9–63 months). The failure-free survival (FFS) for entire cohort was 76.1%, and was 72.4%, 100% and 56.2% for patients with FA, DC and SCN, respectively. There were no primary graft failures. The cumulative incidence of aGVHD at day 100 was 48.1%. The cumulative incidence of cGVHD at 1 and 3 years was 35.0% and 69.3%, respectively. Conclusion: HSCT using alternative donors with unmanipulated grafts and disease-specific conditioning regimens for IBMFS patients shows promising survival.
Physicochemical characterization of paclitaxel prodrugs with cytochrome 3A4 to correlate solubility and bioavailability implementing molecular docking and simulation studies

Abstract Prodrugs are biologically inactive drug molecules that may be developed through rational drug design with an objective to improve a drug’s pharmaceutical and pharmacokinetic properties. Paclitaxel, a highly potent anticancer drug, is directed against many cancers like breast cancer, ovarian cancer, lung cancer, head and neck tumors, non-small cell lung cancer, and Kaposi’s sarcoma, etc. Along with its excellent antitumor activity the drug had a major limitation of low water solubility. To overcome this limitation of this nanomolar active drug many prodrugs were formed in the past. Though increase in the solubility of the drug was obtained but that may or may not account for its increase in bioavailability. CYP3A4 liver enzymes are responsible for the metabolism of fifty percent of the drugs and are major metabolizing enzyme for paclitaxel. Phosphate prodrugs are well known to account the insolubility of many drugs and thus increasing their bioavailability also. In this study, we calculated the ADMET properties of a dataset of twenty phosphate prodrugs of paclitaxel. On the basis of reflection of three favourable properties, ten prodrugs were chosen for further docking studies against CYP3A4. Finally, three prodrugs showing unfavourable binding affinities were selected for Molecular Dynamics Simulations and from this in-silico study we identified that all the three selected prodrugs were unstable as compared to the paclitaxel. The instability of these prodrugs showed their lesser interaction with the CYP3A4 and hence contributing more towards its bioavailability. Thus the three suggested prodrugs those were studied in-silico for oral bioavailability can be further validated for gastrointestinal cancer. Communicated by Ramaswamy H. Sarma
The Discrepancy between Knowledge of Sleep Recommendations and the Actual Sleep Behaviour of Australian Adults

ABSTRACT Introduction: Inadequate sleep is a major public health concern, with large economic, health, and operational costs to Australia. Despite the implementation of public sleep health campaigns, approximately 40% of Australian adults do not obtain the recommended 7–9 hours of sleep. Thus, while people may know how much sleep is required, this knowledge may not be adequately translated to actual sleep behavior. Consequently, this study aims to examine the discrepancy between knowledge of sleep recommendations and self-reported sleep behaviors. Methods: A sample of 1265 Australian adults (54% female, aged 18–65) completed a phone interview as part of the 2017 National Social Survey and were asked questions about their knowledge of sleep guidelines and their actual sleep behavior. Binary logistic regression was used to determine the factors associated with awareness of sleep recommendations and whether this corresponded with reported sleep duration. Results: The final sample size was 998. Although 94% of the sample were aware of current sleep recommendations, 23% of participants did not self-report regularly obtaining 7–9 h sleep per night. These participants were less likely to want to obtain more sleep, less likely to view sleep as a priority before stressful events, and less likely to self-report good health. Conclusion: Although a majority of the sample were aware of sleep recommendations, almost a quarter of the participants’ behavior did not align with their knowledge. Future sleep health campaigns should consider options beyond education, including emphasis on practical strategies and modifiable lifestyle factors to assist individuals to obtain the recommended amount of sleep.
Accessing healthcare as a person with a rugby-related spinal cord injury in South Africa: the injured player’s perspective

ABSTRACT Background Rugby carries a risk for serious injuries, including acute spinal cord injuries. The lifetime health consequences of these injuries may be far-reaching. Purpose In this study, we aimed to describe barriers and facilitators to healthcare and rehabilitation, in individuals with rugby-related spinal cord injuries in South Africa. Methods This study adopted a pragmatic qualitative approach. Stratified purposive sampling was used to select interviews from players from a variety of socio-economic status and geographical areas for inclusion in this study. The final sample consisted of thirty-one (n = 31) participants. Thematic analysis was used to analyze the data. Results Participants described long-term, accessible, affordable, quality healthcare and rehabilitation as important contributors to their quality of life. Even though public healthcare is accessible from a cost point of view, quality of care, availability of rehabilitation services and factors such as affordability and availability of adequate transport remain a barrier for lower socio-economic groups. Conclusion This population was unique, as the support from a dedicated organization enabled participants to overcome some barriers, highlighting the challenges of the healthcare system in maintaining the health of people with spinal cord injuries. Every effort should be made to create equitable access to healthcare and rehabilitation for persons with spinal cord injuries in South Africa.
Molecular Testing of SARS-CoV-2 Infection from Blood Samples in Disseminated Intravascular Coagulation (DIC) and Elevated D-Dimer Levels.

BACKGROUND In 2020, the SARS-CoV-2 virus spread worldwide and infected more that 10 million people, causing more than 500,000 deaths worldwide. The infection has systemic effects on the respiratory and cardiovascular systems; thus, patients can present a variety of symptoms from asymptomatic to rapid deaths. In this paper, we present the first case of post-mortem SARS-CoV-2 molecular testing in Western part of Romania in a deceased with disseminated intravascular coagulation (DIC) and elevated D-dimer levels. METHODS During the autopsy which took place at the Institute of Forensic Medicine from Timisoara, Romania, blood sample was collected in a vacutainer with EDTA and sent to the Laboratory of Forensic Genetics from Victor Babes University of Medicine and Pharmacy, Timisoara, Romania. Viral RNA extraction was performed automated on the Maxwell 48 RSC Extraction System (Promega, USA) using the Maxwell RSC Viral Total Nucleic Acid Purification kit (Promega, USA). After RNA extraction, the samples were amplified on a 7500 real-time PCR (Applied Biosystems, USA) using the genesig® Real-Time PCR Assay (Primer Design, UK). RESULTS The molecular testing showed a cycle threshold value of 23.4 (1.2 x 106 copies/mL), indicating increased viral loads, which correlated with the laboratory analysis results, especially with D-dimer levels. CONCLUSIONS In cases of coagulopathy of SARS-CoV-2, patients in hospitals should be monitored closely for thrombosis development. Thus D-dimer can be used as prognostic marker in monitoring the evolution of SARS-CoV-2 infected patients.
Clinical Characteristics of Juvenile Idiopathic Inflammatory Myopathy and Comparison With Adult Patients

Background/Objective Few studies have been published focusing on the differences between juvenile idiopathic inflammatory myopathy (JIIM) and adult IIM. This study aimed to describe the characteristics of JIIM main subgroups (juvenile dermatomyositis [JDM] and juvenile polymyositis [JPM]) and to compare their differences with adult IIM subgroups (adult DM and adult PM). Methods This study reviewed the medical records of patients from the REMICAM cohort, a multicentric longitudinal study carried out in patients with IIM, followed up between 1980 and 2014 in 12 hospitals in Madrid, Spain. Patients with definite or probable JPM, JDM, adult DM, and adult PM according to the modified Bohan and Peter criteria were selected. We compared the characteristics between JDM and JPM, and between JIIM and adult IIM. Results Eighty-six juvenile patients (75 JDMs and 11 JPMs) and 283 adult patients (133 DMs and 150 PMs) were included. Compared with patients with JDM, patients with JPM were older at diagnosis, had more fever and arthritis, and were less frequently treated with disease-modifying antirheumatic drugs (these differences were not statistically significant). Compared with patients with adult DM, those with JDM presented more frequently with calcinosis (33.8% vs 6.9%, p < 0.0001) and had less severe infections (4.3% vs 23.4%, p < 0.0001), malignancies (1.3% vs 25.6%, p < 0.0001), and mortality (3.5% vs 33%, p < 0.0001). Patients with JDM were treated less frequently with azathioprine (10.8% vs 44.7%, p < 0.0001). Conclusions Our findings confirm that JIIMs are a heterogeneous group of diseases with relevant differences compared with adult IIMs.
Lack of viable severe acute respiratory coronavirus virus 2 (SARS-CoV-2) among PCR-positive air samples from hospital rooms and community isolation facilities

Abstract Background: Understanding the extent of aerosol-based transmission of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) is important for tailoring interventions for control of the coronavirus disease 2019 (COVID-19) pandemic. Multiple studies have reported the detection of SARS-CoV-2 nucleic acid in air samples, but only one study has successfully recovered viable virus, although it is limited by its small sample size. Objective: We aimed to determine the extent of shedding of viable SARS-CoV-2 in respiratory aerosols from COVID-19 patients. Methods: In this observational air sampling study, air samples from airborne-infection isolation rooms (AIIRs) and a community isolation facility (CIF) housing COVID-19 patients were collected using a water vapor condensation method into liquid collection media. Samples were tested for presence of SARS-CoV-2 nucleic acid using quantitative real-time polymerase chain reaction (qRT-PCR), and qRT-PCR-positive samples were tested for viability using viral culture. Results: Samples from 6 (50%) of the 12 sampling cycles in hospital rooms were positive for SARS-CoV-2 RNA, including aerosols ranging from <1 µm to >4 µm in diameter. Of 9 samples from the CIF, 1 was positive via qRT-PCR. Viral RNA concentrations ranged from 179 to 2,738 ORF1ab gene copies per cubic meter of air. Virus cultures were negative after 4 blind passages. Conclusion: Although SARS-CoV-2 is readily captured in aerosols, virus culture remains challenging despite optimized sampling methodologies to preserve virus viability. Further studies on aerosol-based transmission and control of SARS-CoV-2 are needed.
Impact of pathological tumor response after CROSS neoadjuvant chemoradiotherapy followed by surgery on long-term outcome of esophageal cancer: a population-based study

Abstract Background With increasing interest in organ-preserving strategies for potentially curable esophageal cancer, real-world data is needed to understand the impact of pathological tumor response after neoadjuvant chemoradiotherapy (CRT) on patient outcome. The objective of this study is to assess the association between pathological tumor response following CROSS neoadjuvant CRT and long-term overall survival (OS) in a nationwide cohort. Material and methods All patients diagnosed in the Netherlands with potentially curable esophageal cancer between 2009 and 2017, and treated with neoadjuvant CRT followed by esophagectomy were included. Through record linkage with the nationwide Dutch Pathology Registry (PALGA), pathological data were obtained. The primary outcome was pathological tumor response based on ypTNM, classified into pathological complete response (ypT0N0) and incomplete responders (ypT0N+, ypT+N0, and ypT+N+). Multivariable logistic and Cox regression models were used to identify predictors of pathological complete response (pCR) and survival. Results A total of 4946 patients were included. Overall, 24% achieved pCR, with 19% in adenocarcinoma and 42% in squamous cell carcinoma. Patients with pCR had a better estimated 5-year OS compared to incomplete responders (62% vs. 38%, p< .001). Of the patients with incomplete response, ypT+N+ patients (32% of total population) had the lowest estimated 5-year OS rate, followed by ypT0N+ and ypT+ N0 (22%, 47%, and 49%, respectively, p< .001). Adenocarcinoma, well to moderate differentiation, cT3-4, cN+, signet ring cell differentiation and lymph node yield (≥15) were associated with lower likelihood of pCR. Conclusion In this population-based study, pathological tumor response based on the ypTNM-stage was associated with different prognostic subgroups. A quarter of patients achieved ypT0N0 with favorable long-term survival, while one-third had an ypT+N+ response with very poor survival. The association between pathological tumor response and long-term survival could help in more accurate assessments of individual prognosis and treatment decisions.