bluuebunny/crossref_metadata_2025_split huggingface dataset:
The phenotypic presentation of adult individuals with SLC6A1-related neurodevelopmental disorders
Authors: Johannesen Katrine M. , Nielsen Jimmi , Sabers Anne , Isidor Bertrand , Kattentidt-Mouravieva Anja A. , Zieglgänsberger Dominik , Heidlebaugh Alexis R. , Oetjens Kathryn F. , Vidal Anna Abuli , Christensen Jakob , Tiller Jacob , Freed Amber N. , Møller Rikke S. , Rubboli Guido 
Published: August 2023

IntroductionSLC6A1is one of the most common monogenic causes of epilepsy and is a well-established cause of neurodevelopmental disorders.SLC6A1-neurodevelopmental disorders have a consistent phenotype of mild to severe intellectual disability (ID), epilepsy, language delay and behavioral disorders. This phenotypic description is mainly based on knowledge from the pediatric population.MethodHere, we sought to describe patients withSLC6A1variants and age above 18 years through the ascertainment of published and unpublished patients. Unpublished patients were ascertained through international collaborations, while previously published patients were collected through a literature search.ResultsA total of 15 adult patients withSLC6A1variants were included. 9/13 patients had moderate to severe ID (data not available in two). Epilepsy was prevalent (11/15) with seizure types such as absence, myoclonic, atonic, and tonic–clonic seizures. Epilepsy was refractory in 7/11, while four patients were seizure free with lamotrigine, valproate, or lamotrigine in combination with valproate. Language development was severely impaired in five patients. Behavioral disorders were reported in and mainly consisted of autism spectrum disorders and aggressive behavior. Schizophrenia was not reported in any of the patients.DiscussionThe phenotype displayed in the adult patients presented here resembled that of the pediatric cohort with ID, epilepsy, and behavioral disturbances, indicating that the phenotype ofSLC6A1-NDD is consistent over time. Seizures were refractory in &gt;60% of the patients with epilepsy, indicating the lack of targeted treatment inSLC6A1-NDDs. With increased focus on repurposing drugs and on the development of new treatments, hope is that the outlook reflected here will change over time. ID appeared to be more severe in the adult patients, albeit this might reflect a recruitment bias, where only patients seen in specialized centers were included or it might be a feature of the natural history ofSLC6A1-NDDs. This issue warrants to be explored in further studies in larger cohorts.
The assessment of interhemispheric imbalance using functional near-infrared spectroscopic and transcranial magnetic stimulation for predicting motor outcome after stroke
Authors: Chen Songmei , Zhang Xiaolin , Chen Xixi , Zhou Zhiqing , Cong Weiqin , Chong KaYee , Xu Qing , Wu Jiali , Li Zhaoyuan , Lin Wanlong , Shan Chunlei 
Published: August 2023

ObjectiveTo investigate changes in interhemispheric imbalance of cortical excitability during motor recovery after stroke and to clarify the relationship between motor function recovery and alterations in interhemispheric imbalance, with the aim to establish more effective neuromodulation strategies.MethodsThirty-one patients underwent assessments of resting motor threshold (RMT) using transcranial magnetic stimulation (TMS); the cortical activity of the primary motor cortex (M1), premotor cortex (PMC), and supplementary motor area (SMA) using functional near-infrared spectroscopy (fNIRS); as well as motor function using upper extremity Fugl-Meyer (FMA-UE). The laterality index (LI) of RMT and fNIRS were also calculated. All indicators were measured at baseline(T1) and 1 month later(T2). Correlations between motor function outcome and TMS and fNIRS metrics at baseline were analyzed using bivariate correlation.ResultsAll the motor function (FMA-UE1, FMA-UE2, FMA-d2) and LI-RMT (LI-RMT1 and LI-RMT2) had a moderate negative correlation. The higher the corticospinal excitability of the affected hemisphere, the better the motor outcome of the upper extremity, especially in the distal upper extremity (r = −0.366, p = 0.043; r = −0.393, p = 0.029). The greater the activation of the SMA of the unaffected hemisphere, the better the motor outcome, especially in the distal upper extremity (r = −0.356, p = 0.049; r = −0.367, p = 0.042). There was a significant moderate positive correlation observed between LI-RMT2 and LI-SMA1 (r = 0.422, p = 0.018). The improvement in motor function was most significant when both LI-RMT1 and LI-SMA1 were lower. Besides, in patients dominated by unaffected hemisphere corticospinal excitability during motor recovery, LI-(M1 + SMA + PMC)2 exhibited a significant moderate positive association with the proximal upper extremity function 1 month later (r = 0.642, p = 0.007).ConclusionThe combination of both TMS and fNIRS can infer the prognosis of motor function to some extent. Which can infer the role of both hemispheres in recovery and may contribute to the development of effective individualized neuromodulation strategies.
Is food insecurity contributing to malnutrition in older adults in Switzerland? – A cross-sectional study
Authors: Rigling Maurus , Schuetz Philipp , Kaegi-Braun Nina 
Published: August 2023

BackgroundFood insecurity has been defined as “limited access to food, at the level of individuals or households, due to lack of money or other resources” and may increase the nutritional risk, which in turn leads to poor health, development of chronic diseases, poor psychological and cognitive functioning, and substandard academic achievements. There is limited data on the importance of food insecurity in a rich country such as Switzerland.MethodsThis is a cross-sectional analysis of data from a structured survey in an elderly population of Switzerland. The data was assessed between June and August 2021 in the course of a 7-year phone call follow-up from the EFFORT trial, which included medical inpatients at nutritional risk from 2014 to 2018. A validated questionnaire (Six-Item Short Form 2012 of the U.S: Household Food Security Survey Module) was used to assess food security status.ResultsOf the 433 included patients, 30 (6.9%) were food insecure. A significant association between food insecurity and age, governmental financial support and self-reported loneliness was found. When compared with the food secure group, there was a significant lower quality of life measured by the EQ-5D VAS.ConclusionIn an older Swiss population of patients at nutritional risk, food insecurity was named as a contributing factor for malnutrition in about 7% of patients, particularly younger individuals with financial support, and self-reported loneliness. In the assessment of malnutrition, physician and dieticians should ask for food insecurity and if detect take appropriate actions.
Predictive value of radiomics-based machine learning for the disease-free survival in breast cancer: a systematic review and meta-analysis
Authors: Lu Dongmei , Yan Yuke , Jiang Min , Sun Shaoqin , Jiang Haifeng , Lu Yashan , Zhang Wenwen , Zhou Xing 
Published: August 2023

PurposeThis study summarized the previously-published studies regarding the use of radiomics-based predictive models for the identification of breast cancer-associated prognostic factors, which can help clinical decision-making and follow-up strategy.Materials and methodsThis study has been pre-registered on PROSPERO. PubMed, Embase, Cochrane Library, and Web of Science were searched, from inception to April 23, 2022, for studies that used radiomics for prognostic prediction of breast cancer patients. Then the search was updated on July 18, 2023. Quality assessment was conducted using the Radiomics Quality Score, and meta-analysis was performed using R software.ResultsA total of 975 articles were retrieved, and 13 studies were included, involving 5014 participants and 35 prognostic models. Among the models, 20 models were radiomics-based and the other 15 were based on clinical or pathological information. The primary outcome was Disease-free Survival (DFS). The retrieved studies were screened using LASSO, and Cox Regression was applied for modeling. The mean RQS was 18. The c-index of radiomics-based models for DFS prediction was 0.763 (95%CI 0.718-0.810) in the training set and 0.702 (95%CI 0.637-0.774) in the validation set. The c-index of combination models was 0.807 (95%CI0.736-0.885) in the training set and 0.840 (95%CI 0.794-0.888) in the validation set. There was no significant change in the c-index of DFS at 1, 2, 3, and over 5 years of follow-up.ConclusionThis study has proved that radiomics-based prognostic models are of great predictive performance for the prognosis of breast cancer patients. combination model shows significantly enhanced predictive performance.Systematic review registrationhttps://www.crd.york.ac.uk/PROSPERO/, identifier CRD42022332392.
An open, observational clinical study of neoadjuvant therapy in resectable stage III non-small cell lung cancer
Authors: Qi Yuwen , Gu Linping , Shen Jie , Yao Yaxian , Zhao Yi , Lu Shun , Chen Zhiwei 
Published: August 2023

BackgroundThis open, observational clinical study aimed to investigate the efficacy, safety and survival outcomes of neoadjuvant chemotherapy, neoadjuvant immunotherapy with(out) chemotherapy and neoadjuvant targeted therapy among resectable stage III non-small cell lung cancer (NSCLC) patients (NCT04197076) in real world. 48 of the 57 evaluable patients were included in this interim analysis.MethodsThis study was conducted at Shanghai Chest Hospital and included eligible NSCLC patients who were 18 years or older and had resectable clinical stage III disease. Surgical resection was conducted after neoadjuvant chemotherapy (13 patients), immunotherapy with(out) chemotherapy (26 patients), and targeted therapy (9 patients). Disease-free survival (DFS) was evaluated as the primary endpoint. The secondary endpoint was pathological complete response (pCR) rate. Clinical response rate (cRR), related adverse events (AEs), surgical feasibility and pathological features were also discussed in this study.ResultsSignificant differences in DFS were noted between chemotherapy and immunotherapy [7.7 months (range, 3.1 to 23.2 months) vs. 9.6 months (range, 4.0 to 47.9 months); P=0.032], and between chemotherapy and targeted therapy [7.7 months (range, 3.1 to 23.2 months) vs. 13.2 months (range, 7.5 to 32.2 months); P=0.015], but not between immunotherapy and targeted therapy (P=0.500). Subgroup analysis also favored neoadjuvant immunotherapy and targeted therapy. 5 patients achieved pathological complete response (pCR), all of whom were in the neoadjuvant immunotherapy arm, leading to a pCR rate of 19.2% in this arm. Treatment-emergent adverse events (TEAEs) of over grade 3 occurred in 11 patients (19.3%), with 5 (29.4%) in the chemotherapy arm, 5 (16.7%) in the immunotherapy arm and 1 (10.0%) in the targeted therapy arm. One grade 4 and one grade 2 surgery-related serious adverse event occurred in the neoadjuvant chemotherapy and immunotherapy arm, respectively.ConclusionIn patients diagnosed with resectable stage III NSCLC, neoadjuvant immunotherapy and neoadjuvant targeted therapy were associated with significantly longer disease-free survival compared with neoadjuvant chemotherapy. Clinical and pathological response rates were also higher in the immunotherapy and targeted therapy arm. Adverse events were found to be manageable and similar across all three groups, and surgical feasibility favored immunotherapy or targeted therapy rather than chemotherapy.Clinical trial registrationhttps://clinicaltrials.gov/, identifier NCT04197076.
Depth of response may predict clinical outcome in patients with recurrent/metastatic head and neck cancer treated with pembrolizumab-containing regimens
Authors: Saijo Ken , Imai Hiroo , Ouchi Kota , Sasaki Keiju , Yoshida Yuya , Kawamura Yoshifumi , Taniguchi Sakura , Kasahara Yuki , Komine Keigo , Shirota Hidekazu , Takahashi Masanobu , Ishioka Chikashi 
Published: August 2023

BackgroundPembrolizumab-containing regimens are standards of care for recurrent and metastatic head and neck squamous cell carcinoma (R/M HNSCC). The depth of response (DpR) predicts the survival of patients with several types of solid cancers; however, its association with the survival outcomes of patients with R/M HNSCC treated with pembrolizumab-containing regimens remains unclear.MethodsThis study included 66 patients with R/M HNSCC who received a pemblolizumab-containing regimen as a first-line therapy at Tohoku University Hospital, Sendai, Japan. The patients’ characteristics, combined positive score, baseline tumor size, tumor response, DpR, overall survival (OS), progression-free survival (PFS), PFS2, and adverse events were reviewed. The associations between DpR and survival outcomes were analyzed.ResultsThe 1 year-OS and 1 year-PFS rates of pembrolizumab-containing regimens were 69.4% and 24.4%, respectively. The response rate was 28.8%. The mean and median values of tumor change from baseline were 5.1% and −9.0%. In the correlation analysis, a significant negative correlation was observed between tumor change rate from baseline and survival outcomes (OS: r= −0.41, p=0.0017; PFS: r=−0.49, p&lt;0.001). In the multivariate analysis, DpR with tumor change of ≤−45 was associated with better OS and PFS.ConclusionDpR induced by pembrolizumab-containing regimens may be a predictive factor for OS and PFS in patients with R/M HNSCC.
Short- and mid-term outcomes of multisystem inflammatory syndrome in children: a longitudinal prospective single-center cohort study
Authors: Roge Ieva , Kivite-Urtane Anda , Smane Liene , Meiere Anija , Klavina Lizete , Barzdina Elza , Pavare Jana 
Published: August 2023

BackgroundMultisystem inflammatory syndrome in children (MIS-c) emerged during the coronavirus disease 2019 pandemic and is associated with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). Despite the extensively studied clinical manifestation of acute condition, the short- and long-term effects of MIS-c on children's health are unknown.MethodsThis was a prospective longitudinal cohort study. Children aged &lt;18 years who met the Centers for Disease Prevention and Control (CDC) diagnostic criteria and who were admitted to the Children's Clinical University Hospital of Latvia (CCUH) between July 1, 2020, and April 15, 2022, were enrolled in the study. An outpatient follow-up program was initiated in July 2020. All children were evaluated at 2 weeks, 2 months (1–3 months), and 6 months (5–7 months) after discharge. The face-to-face interviews comprised four domains as follows: symptom assessment, physical examination, laboratory testing, and cardiological investigation [including electrocardiogram (ECG) and echocardiography (echo)].ResultsOverall, 21 patients with MIS-c were enrolled. The median age of the study group was 6 years. At the 2-week follow-up, almost half of the patients (N = 10, 47.6%) reported exercise intolerance with provoked tiredness. Laboratory tests showed a considerable increase in blood cell count, with a near doubling of leukocyte and neutrophil counts and a tripling of thrombocyte levels. However, a decline in the levels of inflammatory and organ-specific markers was observed. Cardiological investigation showed significant improvement with gradual resolution of the acute-phase pathological findings. Within 2 months, improvement in exercise capacity was observed with 5-fold and 2-fold reductions in physical intolerance (N = 2, 9.5%) and physical activity-induced fatigue (N = 5, 23.8%), respectively. Normalization of all blood cell lines was observed, and cardiological investigation showed no persistent changes. At the 6-month visit, further improvement in the children's exercise capacity was observed, and both laboratory and cardiological investigation showed no pathological changes.ConclusionsMost persistent symptoms were reported within the first 2 weeks after the acute phase, with decreased physical activity tolerance and activity-induced fatigue as the main features. A positive trend was observed at each follow-up visit as the spectrum of the children's complaints decreased. Furthermore, rapid normalization of laboratory markers and cardiac abnormalities was observed.
Prognostic value of oxygen inhalation therapy for simple nocturnal hypoxemia in COPD: a meta-analysis
Authors: Sun Ling , Chang Ya-Fei , Wang Yun-Fei , Ran Xian-Zhong , Li Xiang-Rong , Xie Quan-Xin , Ning Bin 
Published: August 2023

Objective: The effect of oxygen therapy on the prognosis of chronic obstructive pulmonary disease (COPD) with nocturnal hypoxemia (NOD) has been controversial. Therefore, this study systematically evaluated the relevant literature and included it into randomized controlled studies for meta-analysis to evaluate the efficacy and prognosis.Methods: We searched PubMed, EMBASE, web of science, Cochrane, China HowNet and Wanfang database for the literature on the prognosis of COPD patients with simple NOD from the establishment of the database to 30 June 2022. The outcome indicators were death and aggravation of the disease. The efficacy evaluation measures were pulmonary function and arterial blood gas results. The publication bias and heterogeneity of the included studies were evaluated.Results: A total of 621 patients from 5 studies were included in this meta-analysis, and there was no publication bias in the included studies. The total mortality of long-term oxygen therapy (LTOT) in COPD patients with simple NOD in oxygen therapy group (RR = 1.04; 95% CI: 0.81–1.33, p = 0.77), mortality (RR = 0.87; 95% CI: 0.58–1.31, p = 0.50), risk of progression to LTOT events (RR = 1.07; 95% CI: 0.76–1.51, p = 0.71). PaO2 in patients with COPD and simple NOD in oxygen therapy group was higher than that in non-oxygen therapy group (mean difference (MD) = 13.47; 95% CI: 3.49–23.46, p = 0.008), the decrease of PaCO2 level was not statistically significant (MD = −10.05; 95% CI: −26.36-6.27, p = 0.23).Conclusion: Oxygen therapy can improve the prognosis of blood oxygen partial pressure in COPD patients with simple NOD, but oxygen therapy has no significant effect on the survival rate, controlling the progression of the disease to LTOT and reducing the partial pressure of carbon dioxide.
Yao-Shan of traditional Chinese medicine: an old story for metabolic health
Authors: Yang Shuangling , Yang Hongzhi , Zhang Yaxing 
Published: August 2023

Type 2 diabetes mellitus, nonalcoholic fatty liver disease (NAFLD), cardio-cerebrovascular diseases (CCVDs), hyperuricemia and gout, and metabolic-related sexual dysfunction are metabolic diseases that affect human health in modern society. Scientists have made great efforts to investigate metabolic diseases using cell models in vitro or animal models in the past. However, the findings from cells or animals are difficult to translate into clinical applications due to factors such as the in vitro and in vivo differences; the differences in anatomy, physiology, and genetics between humans and animals; and the differences in microbiome–host interaction. The Chinese have extensively used the medicated diet of traditional Chinese medicine (TCM) (also named as Yao-Shan of TCM, Chinese Yao-Shan et al.) to maintain or improve cardiometabolic health for more than 2,200 years. These ancient classic diets of TCM are essential summaries of long-term life and clinical practices. Over the past 5 years, our group has made every effort to collect and sort out the classic Yao-Shan of TCM from the ancient TCM literature since Spring and Autumn and Warring States Period, especially these are involved in the prevention and treatment of metabolic diseases, such as diabetes, NAFLD, CCVDs, hyperuricemia and gout, and sexual dysfunction. Here, we summarized and discussed the classic Yao-Shan of TCM for metabolic diseases according to the time recorded in the ancient literature, and revised the Latin names of the raw materials in these Yao-Shan of TCM. Moreover, the modern medicine evidences of some Yao-Shan of TCM on metabolic diseases have also been summarized and emphasized in here. However, the exact composition (in terms of ratios), preparation process, and dosage of many Yao-Shan are not standardized, and their main active ingredients are vague. Uncovering the mystery of Yao-Shan of TCM through modern biological and chemical strategies will help us open a door, which is ancient but now looks new, to modulate metabolic homeostasis and diseases.
Personal protective behaviors in response to COVID-19: a longitudinal application of protection motivation theory
Authors: Hinssen Marina , Dohle Simone 
Published: August 2023

IntroductionDisease outbreaks are expected to occur more frequently and spread more rapidly in the age of globalization. Personal protective behaviors strongly affect infection and death rates worldwide. It is therefore of prime importance to better understand which factors predict personal protective behaviors during a pandemic. Protection motivation theory (PMT) proposes that people’s motivation to protect themselves is based on two appraisal processes: threat appraisal and coping appraisal. Building on PMT, this longitudinal study aimed to predict personal protective behaviors in response to COVID-19, including hand hygiene, physical distancing, and mask wearing.MethodIn the first wave of the study (November, 2020), the two appraisal processes as specified in PMT as well as intentions to perform protective behaviors were assessed in a representative sample of German adults (N = 328). In the second wave of this study, which was conducted one month later, the frequency of protective behaviors was measured. Structural equation modeling was used to test whether threat and coping appraisal predicted intentions and protective behaviors.ResultsResponse rate for the second wave was high (87%). For all three behaviors, self-efficacy predicted intentions and also indirectly behavior (i.e., mediated via intentions). Furthermore, exploratory tests of alternative theoretical models suggested that both self-efficacy and costs have direct effects (i.e., independent from their relationship with intentions) on performed behavior.ConclusionTo support individuals to engage in protective behaviors during a pandemic, it is important to reduce barriers to action and to foster individuals’ self-efficacy.