bluuebunny/crossref_metadata_2025_split huggingface dataset:
A novel in‐frame deletion in MYOT causes an early adult onset distal myopathy
Authors: Guglielmi Valeria , Pancheri Elia , Cannone Elena , Nigro Vincenzo , Malatesta Manuela , Vettori Andrea , Giorgetti Alejandro , Torella Annalaura , Aurino Stefania , Cisterna Barbara , Marchetto Giulia , Tomelleri Giuliano , Tonin Paola , Schiavone Marco , Vattemi Gaetano 
Published: August 2023

AbstractMissense mutations in MYOT encoding the sarcomeric Z‐disk protein myotilin cause three main myopathic phenotypes including proximal limb‐girdle muscular dystrophy, spheroid body myopathy, and late‐onset distal myopathy. We describe a family carrying a heterozygous MYOT deletion (Tyr4_His9del) that clinically was characterized by an early‐adult onset distal muscle weakness and pathologically by a myofibrillar myopathy (MFM). Molecular modeling of the full‐length myotilin protein revealed that the 4‐YERPKH‐9 amino acids are involved in local interactions within the N‐terminal portion of myotilin. Injection of in vitro synthetized mutated human MYOT RNA or of plasmid carrying its cDNA sequence in zebrafish embryos led to muscle defects characterized by sarcomeric disorganization of muscle fibers and widening of the I‐band, and severe motor impairments. We identify MYOT novel Tyr4_His9 deletion as the cause of an early‐onset MFM with a distal myopathy phenotype and provide data supporting the importance of the amino acid sequence for the structural role of myotilin in the sarcomeric organization of myofibers.
Cleft closure (the Bascom cleft lift) for 714 patients—treatment of choice for complex and recurrent pilonidal disease (a cohort study)
Authors: Ojo Dotun , Flashman Karen , Thomas Greg , Tozer Phil , Senapati Asha 
Published: August 2023

AbstractAimPilonidal disease is a benign condition that affects mainly the young. In existing literature, there is no consensus for best treatment, with multiple operative techniques described, some complex, resulting in a high proportion of failure and/or morbidity. The cleft closure (or cleft lift) described by Bascom and Bascom (Arch Surg, 137, 2002, 1146−50), by comparison, is a simple operation, resulting in healing in the majority and good cosmesis.MethodThis is a single surgeon series, with the aim of evaluating outcomes for consecutive patients who underwent cleft closure surgery at two centres (St Mark's Hospital, London, and Queen Alexandra Hospital, Portsmouth) between 1995 and 2021 for either extensive, complex or recurrent pilonidal disease. Primary study outcomes that were measured included rate of primary healing, time to complete healing and rate of recurrence.ResultsSome 714 patients had a cleft closure of whom 656 had documented follow‐up. Primary healing occurred in 60.7% (n = 398) rising to 88.5% by 12 weeks (n = 562) and 91.8% by 16 weeks. The remaining patients healed over the following weeks with only 19 wounds failing to heal completely (3%), requiring further surgery to achieve healing. After complete healing 5.3% of patients developed recurrent disease at a median of 12 months.ConclusionCleft closure is an effective operation for pilonidal disease. Overall, 97% of patients healed without further surgery. A 3% failure rate and 5.3% recurrence rate were observed. This technique could be considered as an alternative procedure to complex flaps or midline excision, in extensive, recurrent and unhealed pilonidal disease.
NCAPG stimulates lung adenocarcinoma cell stemness through aerobic glycolysis
Authors: Zhang Zuwang , Qi Dongdong , Liu Xun , Kang Poming 
Published: August 2023

AbstractBackgroundCancer stem cells are pivotal in cancer progression and therapy, including lung adenocarcinoma (LUAD). High NCAPG level is implicated in malignant tumorigenesis, but investigations on NCAPG and LUAD stem cells are warranted. Hence, projecting the impact of NCAPG on cell stemness and the targeted therapy for LUAD is of the essence.MethodsBioinformatics analyzed NCAPG expression in LUAD tissues. qRT‐PCR assayed NCAPG expression in LUAD cells. CCK‐8 assessed cell viability and cell sphere‐forming assay measured sphere‐forming ability. Western blot assessed expression of stem cell‐related markers (CD133, CD44, Oct‐4) and specific genes (HK2, PKM2, LDHA) related to glycolysis metabolism pathway. Cellular glycolytic capacity was assayed by glycolytic metabolites pyruvic acid, lactate, citrate, and malate assay kits, and extracellular acidification rate and oxygen consumption rate analyzers.ResultsNCAPG was upregulated in LUAD and enriched in the aerobic glycolysis pathway, and its expression was positively correlated with that of glycolytic marker genes. Cell function assays revealed that NCAPG stimulated proliferation, stemness, and glycolytic activity of LUAD cells. Rescue experiments unveiled that 2‐DG (glycolysis inhibitor) was able to reverse the stimulative impact of NCAPG overexpression on proliferation, stemness, and glycolytic activity of LUAD cells.ConclusionNCAPG stimulated LUAD cell stemness through activation of glycolysis pathway. NCAPG may be possible biomarker for diagnosis and target for treatment of LUAD.
Topics of questions and community interaction in social Q&A during the COVID‐19 pandemic
Authors: Fu Hengyi , Oh Sanghee 
Published: August 2023

AbstractBackgroundConsidering social distancing requirements and isolation during the COVID‐19 pandemic and the widespread health mis/disinformation on social media, filling the pandemic‐related information gap is critical.ObjectivesThis study explored COVID‐19‐related question topics, topic correlation, evolving trends, and community interactions by leveraging data from a health question‐answering (Q&A) community (public and health professionals) over a 2‐year period.MethodsA total of 828 questions were collected and manually reviewed from a health Q&A and classified into 2492 codes. Question topic correlations, trends, and community interactions were generated using different statistical techniques.ResultsThirty‐seven topics were identified, and strong topic correlations were observed between the cognitive layer and other layers. These topics changed as the pandemic developed. Community interaction analyses revealed topics that were popular but received comparatively fewer responses.DiscussionThe findings could illuminate the dynamic changes in people's interests and concerns related to COVID‐19 and their experiences of exchanging information in social Q&A communities.ConclusionThis study examined the practical significance of understanding topics of interest during a pandemic. The findings can inform the design of social health Q&A platforms that could reduce the risks of misinformation and disinformation.
Effectiveness of family interventions for patients with schizophrenia: A systematic review and meta‐analysis
Authors: Kim Sin‐Hyang , Park Sihyun 
Published: August 2023

AbstractThe family is the primary caregiver for most patients with schizophrenia, and their roles are essential in patients' illness trajectories and outcomes. Due to this, various family interventions for schizophrenia have been developed and applied to the relatives who take care of their family members with schizophrenia. This study examined the effectiveness of existing family interventions for schizophrenia in achieving their target outcomes at both the family and patient levels by utilizing a systematic review and meta‐analysis. Combinations of terms were used to search for relevant studies from the databases. Thirty‐seven randomized controlled trials that met the inclusion criteria were included in the analysis. Based on the pooled result of the included studies, the programmes significantly improved the targeted outcomes with large effect size. The programmes' impacts on family‐related outcomes were higher than those on patients. Among the targeted outcomes, patients' treatment satisfaction and adherence and family caregivers' mental health were the most remarkable outcomes that had improved from the included programmes. Conversely, outcomes related to family relationships, caregiving experiences, perceived social support of family caregivers, and patients' medication use did not see significant improvements. The programmes delivered to individual family units and only to the family caregivers were more effective than those delivered to groups of caregivers and caregivers and patients together, respectively. Programme‐focused interventions were more effective than emotion‐focused ones. Based on these findings, an in‐home visiting nurse programme or advanced technology is suggested when applying family interventions for schizophrenia in practice.
Association between diabetic retinopathy and diabetic foot ulcer in patients with diabetes: A meta‐analysis
Authors: Li Ziye , Wei Jing , Lu Song 
Published: August 2023

AbstractThis study aimed to explore the relationship between diabetic retinopathy (DR) and diabetic foot ulcers (DFUs) to provide evidence for the prevention of diabetic complications. PubMed, EMBASE, Web of Science, Cochrane Library, China National Knowledge Infrastructure, Chinese Biomedical Literature Database and Wanfang Data databases were searched from their inception until March 2023 for studies on the relationship between DR and DFU. Two researchers independently screened the literature and extracted data according to the inclusion and exclusion criteria. The meta‐analysis was performed using the RevMan 5.3 software. Eleven articles referring to 10 208 patients were included, of whom 2191 patients had DFU and 8017 patients did not have DFU. The meta‐analysis results showed that DR significantly increased the incidence of DFU (47.94% vs. 16.38%; OR, 4.13; 95% CI, 2.33–7.33; p < 0.001). The results of this study suggest that patients with DR have a higher risk of developing DFU, highlighting the importance of regular screening for these two complications to prevent serious adverse outcomes of diabetes. However, further high‐quality studies are required to validate the conclusions of the present study.
Elevated serum uric acid is a risk factor for progression to prediabetes in Japanese women: A 5‐year retrospective chort study
Authors: Shimodaira Masanori , Minemura Yu , Nakayama Tomohiro 
Published: August 2023

ABSTRACTAims/IntroductionThe association between serum uric acid (SUA) levels and prediabetes risk remains poorly understood. The aim of this longitudinal retrospective study was to evaluate the association between SUA levels and prediabetes progression in Japanese individuals through sex‐specific analysis.Materials and MethodsWe enrolled 20,743 participants (11,916 men and 8,827 women) who underwent annual medical health checkups in 2017 (baseline) and 2022. None of the participants had diabetes and prediabetes or were taking SUA‐lowering medications at baseline. Participants were divided into four groups according to the quartiles of SUA levels at baseline. Multivariable‐adjusted Cox regression analysis was conducted to examine the risk of prediabetes progression. In addition, multivariate restricted cubic spline analysis was conducted to investigate the dose–response risk.ResultsIn women, compared with the lowest SUA quartile (Q1) group, the adjusted hazard ratios (95% confidence intervals) of prediabetes in the Q2, Q3, and Q4 groups were 1.03 (0.86–1.25), 1.41 (1.18–1.68), and 1.55 (1.30–1.84), respectively. However, in men, no significant association in the risk of prediabetes was found across quartiles of SUA. Furthermore, in women, restricted cubic spline analysis revealed the dose–response relationship between SUA and progression to prediabetes.ConclusionsThe results indicate that elevated serum SUA levels might be positively and independently associated with an increased risk of progression to prediabetes in Japanese women.
Genetic, electrophysiological, and pathological studies on patients with SCN9A‐related pain disorders
Authors: Yuan Jun‐Hui , Cheng Xiaoyang , Matsuura Eiji , Higuchi Yujiro , Ando Masahiro , Hashiguchi Akihiro , Yoshimura Akiko , Nakachi Ryo , Mine Jun , Taketani Takeshi , Maeda Kenichi , Kawakami Saori , Kira Ryutaro , Tanaka Shoko , Kanai Kazuaki , Dib‐Hajj Fadia , Dib‐Hajj Sulayman D. , Waxman Stephen G. , Takashima Hiroshi 
Published: August 2023

AbstractBackground and AimsVoltage‐gated sodium channel Nav1.7, encoded by the SCN9A gene, has been linked to diverse painful peripheral neuropathies, represented by the inherited erythromelalgia (EM) and paroxysmal extreme pain disorder (PEPD). The aim of this study was to determine the genetic etiology of patients experiencing neuropathic pain, and shed light on the underlying pathogenesis.MethodsWe enrolled eight patients presenting with early‐onset painful peripheral neuropathies, consisting of six cases exhibiting EM/EM‐like disorders and two cases clinically diagnosed with PEPD. We conducted a gene‐panel sequencing targeting 18 genes associated with hereditary sensory and/or autonomic neuropathy. We introduced novel SCN9A mutation (F1624S) into a GFP‐2A‐Nav1.7rNS plasmid, and the constructs were then transiently transfected into HEK293 cells. We characterized both wild‐type and F1624S Nav1.7 channels using an automated high‐throughput patch‐clamp system.ResultsFrom two patients displaying EM‐like/EM phenotypes, we identified two SCN9A mutations, I136V and P1308L. Among two patients diagnosed with PEPD, we found two additional mutations in SCN9A, F1624S (novel) and A1632E. Patch‐clamp analysis of Nav1.7‐F1624S revealed depolarizing shifts in both steady‐state fast inactivation (17.4 mV, p < .001) and slow inactivation (5.5 mV, p < .001), but no effect on channel activation was observed.InterpretationClinical features observed in our patients broaden the phenotypic spectrum of SCN9A‐related pain disorders, and the electrophysiological analysis enriches the understanding of genotype–phenotype association caused by Nav1.7 gain‐of‐function mutations.
Potential role of inflammaging mediated by the complement system in enlarged facial pores
Authors: Qiu Wei , Chen Feng , Feng Xiaoyue , Shang Jianli , Luo Xingyi , Chen Yong 
Published: August 2023

AbstractBackgroundEnlarged facial pores are a common cosmetic concern of the skin, rather than a disease, and have not received much attention from dermatologists in recent years. Consequently, progress in understanding their pathogenesis has been limited, and current cosmetic solutions have limitations. Given that the complement system has regained interest as a key player in chronic inflammatory skin conditions, various mechanisms involving this system are being investigated.ObjectiveWe aimed to shed light on the mechanism underlying enlarged facial pores by examining the role of the complement system in skin.MethodsWe conducted a comprehensive literature search utilizing various academic databases including PubMed, Web of Science, and Google Scholar. Employing keywords such as "complement system," "inflammation," "facial pores," "enlarged," and "mechanisms," we compiled a selection of relevant studies. These studies provided a comprehensive understanding of the intricate mechanisms underlying the relationship between the "complement system" and "inflammation" within the context of facial pore enlargement.ResultsOur findings suggest that inflammaging mediated by complement activation may be a critical player in the formation of enlarged facial pores. Specifically, overactivation of the complement system leading to the accumulation of complement fragments could be a major contributor to this process. Notably, the complement system in skin may be involved in a range of skin issues, including aging.ConclusionModulating the complement system presents a promising avenue for future research in improving skin health. Further basic and clinical research is necessary to validate these findings, but we hope that this study can serve as a theoretical foundation for the development of targeted cosmetics.
Minimal clinically important difference of the Functional Living Index‐Emesis in patients with gynecological malignant tumor: A post hoc analysis of a single‐arm study
Authors: Fan Tingting , Luo Caifeng 
Published: August 2023

AbstractAimThis study aimed to explore the impact of minimum clinically important difference (MCID) of the Functional Living Index‐Emesis (FLIE) in patients with gynecologic malignancies.MethodThis post hoc analysis included patients with gynecological malignant tumors in the Department of Oncology of our hospital between October 2020 and October 2021.ResultsA total of 149 patients (aged 50.05 ± 12.24 years) were included. Most of the patients were married (75.8%), lived in the city (60.4%), and had a history of motion sickness (75.8%). The degree of nausea (9.00 [0.00, 16.00] vs. 30.00 [16.00, 48.00], P < 0.001) and vomiting (9.00 [0.00, 16.00] vs. 30.00 [16.00, 48.00], P < 0.001) were significantly improved after treatment. Taking the options in the scale as the subjective anchor, the MCID of FLIE for nausea and vomiting were 28.5 and 29 in anchor‐based analysis, respectively. In the distribution‐based analysis, the MCID of FLIE for nausea and vomiting were 2.41, 6.04, and 9.66; and 2.31, 5.78, and 9.24 in effect size of 0.2, 0.5, and 0.8, respectively.ConclusionThe MCID of FLIE for nausea and vomiting in patients with gynecological malignant tumors was 28.5 and 29 in the anchor‐based analysis, with higher specificity, and 6.04 and 5.78 in the distribution‐based analysis, with higher sensitivity. The development of the MCID scale might be used to interpret the clinical significance of chemotherapy‐induced nausea and vomiting in patients with gynecological malignancies and help to calculate the sample size for future clinical trials.
Effects of mixed fibres and essential oils blend on growth performance and intestinal barrier function of piglets challenged with enterotoxigenic Escherichia coli K88
Authors: Liang Chan , Fu Runqi , Chen Daiwen , Tian Gang , He Jun , Zheng Ping , Mao Xiangbing , Yu Bing 
Published: August 2023

AbstractThis study was to evaluate the effects of supplementing mixed dietary fibres (MDF) and essential oils blend (EOB) either alone or in combination on growth performance and intestinal barrier function in weaned piglets challenged with enterotoxigenic Escherichia coli K88 (ETEC). Forty‐two piglets (28 days old) were randomly allocated into six treatments in a 25‐day experiment, and fed the basal diet (CON or ETEC) either with antibiotics (AT), MDF, EOB or MDF + EOB. On Day 22 of the experiment, pigs in CON and challenged groups (ETEC, AT, MDF, EOB and MDF + EOB) were orally administered sterile saline and ETEC containing 6 × 1010 CFU/kg body weight respectively. On Day 26, all pigs were euthanized to collect samples. Before ETEC challenge, piglets in MDF and EOB had lower diarrhoea incidence (p < 0.01) than others. After ETEC challenge, piglets in ETEC had lower average daily gain and higher diarrhoea incidence (p < 0.05) than those of CON. Furthermore, compared to CON, ETEC group increased the serum lipopolysaccharide concentration and diamine oxidase activity, and decreased mRNA levels of genes relating to barrier function (aquaporin 3, AQP3; mucin1, MUC1; zonula occludens‐1, ZO‐1; Occludin), and increased the concentration of cytokines (interleukin‐1β/4/6/10, IL‐1β/4/6/10) and secretory immunoglobulin A (sIgA) in jejunal mucosa (p < 0.05). However, these deleterious effects induced by ETEC were partly alleviated by MDF, EOB, MDF + EOB and AT. Additionally, compared to ETEC group, MDF increased Bifidobacterium abundance in cecal digesta and butyrate concentration in colonic digesta (p < 0.05). Also, EOB improved propionate concentration in cecal digesta, and MDF + EOB decreased IL‐10 concentration in jejunal mucosa (p < 0.05) compared with ETEC. Conclusively, MDF and EOB either alone or in combination can improve growth performance and alleviate diarrhoea via improving intestinal barrier function of piglets after ETEC challenge, and all may serve as potential alternatives to AT for piglets.
Short‐term outcome and complications following cutaneous reconstruction using cranial superficial epigastric axial pattern flaps in dogs: six cases (2008‐2022)
Authors: Gaudio E. , Aertsens A. , Field E. , Hattersley R. , Baines S. 
Published: August 2023

ObjectivesTo investigate short‐term outcome and complications following the use of the cranial superficial epigastric axial pattern flap to reconstruct cutaneous defects in dogs.Materials and MethodsMedical records from dogs undergoing reconstructive surgery between 2008 and 2022 by means of cranial superficial epigastric axial pattern flap were reviewed. Data on signalment, reason for reconstruction, defect size, flap healing, post‐operative complications and need for revision surgery were collected.ResultsSix dogs were included in the study. Indications for reconstruction included neoplasia (4/6), skin necrosis due to vehicular trauma (1/6) and dog bite (1/6). Postoperative complications occurred in 50% of the patients and included seroma (1/6), bruising (2/6) and necrosis of the distal portion of the flap (2/6), with two dogs developing concurrent complications. One dog required open wound management and additional surgery. Overall outcome was scored excellent in three, good in two, and fair in one dog.Clinical SignificanceDespite the relatively high complication rate, most of the complications were deemed minor and could be managed conservatively. Eventually, all wounds healed completely and only one flap required revision surgery.
Cascade of care among people with hepatitis B in New South Wales, Australia
Authors: Shah Syed Hassan Bin Usman , Valerio Heather , Hajarizadeh Behzad , Matthews Gail , Alavi Maryam , Dore Gregory J. 
Published: August 2023

AbstractHepatitis B virus (HBV) care cascade characterisation is important for monitoring HBV elimination progress. This study evaluated care cascade and factors associated with HBV DNA testing and treatment in New South Wales, Australia. HBV care cascade were determined through linkage of HBV notifications (1993–2017) to Medicare and pharmaceutical benefits schemes (2010–2018). Timely HBV DNA testing was within 4 weeks of HBV notification. Multivariate Cox proportional hazards regression evaluated factors associated with HBV DNA testing and treatment. Among 15,202 people with HBV notification, 10,479 (69%) were tested for HBV DNA. A total of 3179 (21%) initiated HBV treatment. HBV DNA testing was more likely among age ≥45 years (adjusted hazard ratio [aHR] 1.07, 95% CI: 1.02, 1.12), hepatocellular carcinoma (HCC) (aHR 1.23, 95% CI: 1.01, 1.50), coinfection (aHR 1.61, 95% CI: 1.23, 2.09), later notification (2014–2017) (aHR 1.21, 95% CI: 1.16, 1.26) and less likely among females (aHR 0.95, 95% CI: 0.91, 0.99), history of alcohol use disorder (AUD) (aHR 0.77, 95% CI: 0.66, 0.89), HCV coinfection (aHR .62, 95% CI: 0.55, 0.70) and Indigenous peoples (aHR 0.84, 95% CI: 0.71, 0.98). HBV treatment was associated with age ≥45 years (aHR 1.35, 95% CI: 1.24, 1.48), decompensated cirrhosis (aHR 2.07, 95% CI: 1.62, 2.65), HCC (aHR 2.96, 95% CI: 2.35, 3.74), HIV coinfection (aHR 4.27, 95% CI: 3.43, 5.31) and later notification (2014–2017) (aHR 1.37, 95% CI: 1.26, 1.47). HBV treatment was less likely among females (aHR 0.68, 95% CI: 0.63, 0.73) and Indigenous peoples (aHR 0.58, 95% CI: 0.42, 0.80). HBV DNA testing and treatment coverage have increased, but remain sub‐optimal among some key populations.