bluuebunny/crossref_metadata_2025_split huggingface dataset:
Cardio-Metabolic and Mental Health Outcomes Before and During the COVID-19 Pandemic in a Cohort of Women With Gestational Diabetes Mellitus in Switzerland
Authors: Quansah Dan Yedu , Gilbert Leah , Kosinski Christophe , Le Dizès Olivier , Horsch Antje , Benhalima Katrien , Cosson Emmanuel , Puder Jardena J. 
Published: July 2022

BackgroundThe COVID-19 pandemic has been associated with worsened metabolic and mental health in the general and perinatal population. The postpartum is a critical moment regarding these outcomes particularly in women with gestational diabetes mellitus (GDM). We investigated the cardio-metabolic and mental health outcomes before and during the pandemic in this population.MethodsThis cohort study included 418 women with GDM, recruited during two distinct periods. This included 180 women exposed to the pandemic (E+) and recruited between May 2020-April 2021 and 238 women who were not exposed to the pandemic during their postpartum period (attended a year before=non-exposed (E-)) and recruited between January-December 2019. Among the E+, a nested-subcohort of 120 women were exposed both during pregnancy and postpartum. During the pandemic, we adopted a hybrid follow-up of women that consisted of in-person consultations, regular contact via phone calls (35%), sent recorded exercise guide to patients to follow at home and linked to our website. We specifically focused on maintaining motivation and keeping a strong focus on healthy lifestyle behaviors. Obstetric, neonatal, cardio-metabolic and mental health outcomes were assessed during pregnancy and postpartum.ResultsThe pandemic was not associated with worsened weight, weight retention, glucose tolerance, metabolic syndrome, well-being or depression in the postpartum with the exception of a minimally increased HbA1c, diastolic blood pressure and lower emotional eating scores in E+ women (all p ≤ 0.046). In the nested subcohort, E+ women had a slightly increased HbA1c at the first GDM visit and a higher need for glucose-lowering medication (both p ≤ 0.014), but HbA1c at the end of pregnancy and other cardio-metabolic, mental health, obstetric and neonatal outcomes during pregnancy were similar.ConclusionsThe pandemic was not associated with any clinically relevant worsening of cardio-metabolic, mental health, obstetrical and neonatal outcomes in our GDM cohort. This was possibly due to a continued hybrid follow-up, and the partial lockdown in Switzerland.
Oil disturbance reduces infaunal family richness but does not affect phylogenetic diversity
Authors: Kiskaddon Erin , Gadeken Kara , Berke Sarah K. , Bell Susan , Moore Jenna M. , Dorgan Kelly M. 
Published: July 2022

Infaunal organisms are susceptible to disturbances such as hypoxia and sediment contamination; changes in infaunal community structure are therefore often used as indicators of anthropogenic disturbance. Susceptibility to disturbance varies across taxa, either due to physiological factors or to behaviors or functional roles that increase exposure. Both sources of variability are likely to be heritable and shared among related taxa. Thus, we would expect oil disturbance to disproportionately affect related taxa and therefore decrease phylogenetic diversity (PD). We test this hypothesis for a shallow water marine infaunal community using a simulation approach that iteratively removes clades with shared vulnerability to oil exposure. Infauna were sampled at two sites in the Chandeleur Islands, LA, that reflect different exposures to crude oil after theDeepwater Horizonevent. Seagrass and adjacent bare sediment habitats were sampled in 2015, 5 years after initial oil exposure, and again in 2016 after an acute re-oiling event. We found that strong correlation between PD and family richness masked any detectable PD patterns with oil exposure. For our full community tree, sensitivity analysis indicated that the removal of larger clades did not disproportionately reduce PD, against our prediction. For this pair of sites, PD did not provide a better metric for assessing the impacts of oil exposure than family richness alone. It is possible, however, that finer-scale taxonomic resolution of infaunal communities may better decouple PD from taxonomic richness. More work is needed to fully evaluate the impacts of disturbance on PD.
NCKAP1 is a Prognostic Biomarker for Inhibition of Cell Growth in Clear Cell Renal Cell Carcinoma
Authors: Chen Jiasheng , Ge Jianzhang , Zhang Wancong , Xie Xuqi , Zhong Xiaoping , Tang Shijie 
Published: July 2022

Background: Clear cell renal cell carcinoma (ccRCC) is the most frequent type of kidney cancer. Nck-associated protein 1 (NCKAP1) is associated with poor prognosis and tumor progression in several cancer types, but the function and prognostic value of NCKAP1 in ccRCC remain poorly understood.Methods: Using the Ualcan database, we evaluated the correlation between NCKAP1 expression and clinical features of ccRCC. These data were validated by immunohistochemical staining for NCKAP1 in a cohort of ccRCC patients. We assessed the prognostic value of NCKAP1 using GEPIA2 survival analysis. NCKAP1 function was characterized in vitro and in vivo using NCKAP1-overexpression ACHN cell lines. The LinkedOmics and GSCALite databases were used to investigate identify potential NCKAP1-targeted medicines that may play a role in the treatment of ccRCC. The impact of NCKAP1 expression on immune infiltration was also evaluated.Results: NCKAP1 was significantly downregulated in ccRCC and correlated with advanced clinicopathological features and poor prognosis. Overexpression of NCKAP1 in ACHN cells reduced proliferation, invasion and migration capacity in vitro and inhibited tumor growth in vivo. According to the LinkedOmics, GSCALite and TIMER databases, NCKAP1 and related genes function primarily in ribosomal signaling, oxidative phosphorylation, TGF-β, and EMT-related signaling pathways. NCKAP1 was also shown to positively correlate with immune cell types, biomarkers, and immune checkpoints in ccRCCs.Conclusions: NCKAP1 may play a vital tumor-suppressive role in ccRCC and is potentially a useful prognostic biomarker.
Genetic liability to asthma and risk of cardiovascular diseases: A Mendelian randomization study
Authors: Chen Heng , Chen Wei , Zheng Liangrong 
Published: July 2022

Background and Aims: Epidemiological studies have suggested positive associations between asthma and the risk of cardiovascular diseases (CVDs). However, causality remains inconclusive. We aim to explore the causal associations between asthma and CVDs risk using the Mendelian Randomization (MR) approach.Methods: We obtained summary-level data for eight CVDs [including atrial fibrillation (AF), coronary artery disease (CAD), heart failure (HF), stroke, ischemic stroke, large artery stroke, small vessel stroke, and cardioembolic stroke] from several large genome-wide association studies (GWASs) and the FinnGen consortium. Nine lead single-nucleotide polymorphisms associated with asthma (p &lt; 5 × 10−8) were identified from the GWAS conducted by the Trans-National Asthma Genetic Consortium. MR analyses were performed using the inverse variance weighted method, supplemented by the weighted median and MR-Egger methods.Results: Inverse variance weighted method showed suggestive effects of genetically determined asthma on AF (odds ratio (OR), 1.08; 95% confidence interval (CI), 1.02, 1.14; p = 0.009) and HF (OR, 1.05; 95% CI, 1.01, 1.09; p = 0.029). We found no causal associations between asthma and other CVDs. No horizontal pleiotropy was observed.Conclusion: This MR study provides genetic evidence suggesting a causal association between asthma and the risk of AF and HF, although not at the level of significance after multiple testing correction. Programs aimed at treating asthma among asthmatics might help prevent the adverse health effects inflicted by CVDs.
Genetically predicted adiponectin causally reduces the risk of chronic kidney disease, a bilateral and multivariable mendelian randomization study
Authors: Wu Ruicheng , Luo Peiyi , Luo Min , Li Xiaoyu , Zhong Xin , He Qiang , Zhang Jie , Zhang Yangchang , Xiong Yang , Han Ping 
Published: July 2022

Background: It is not clarified whether the elevation of adiponectin is the results of kidney damage, or the cause of kidney function injury. To explore the causal association of adiponectin on estimated glomerular filtration rate (eGFR) and chronic kidney disease (CKD), this study was performed.Materials and methods: The genetic association of adiponectin were retrieved from one genome-wide association studies with 39,883 participants. The summary-level statistics regarding the eGFR (133,413 participants) and CKD (12,385 CKD cases and 104,780 controls) were retrieved from the CKDGen consortium in the European ancestry. Single-variable Mendelian randomization (MR), bilateral and multivariable MR analyses were used to verify the causal association between adiponectin, eGFR, and CKD.Results: Genetically predicted adiponectin reduces the risk of CKD (OR = 0.71, 95% CI = 0.57–0.89, p = 0.002) and increases the eGFR (β = 0.014, 95% CI = 0.001–0.026, p = 0.034) by the inverse variance weighting (IVW) estimator. These findings remain consistent in the sensitivity analyses. No heterogeneity and pleiotropy were detected in this study (P for MR-Egger 0.617, P for global test &gt; 0.05, and P for Cochran’s Q statistics = 0.617). The bilateral MR identified no causal association of CKD on adiponectin (OR = 1.01, 95% CI = 0.96–1.07, p = 0.658), nor did it support the association of eGFR on adiponectin (OR = 0.86, 95% CI = 0.68–1.09, p = 0.207) by the IVW estimator. All the sensitivity analyses reported similar findings (p &gt; 0.05). Additionally, after adjusting for cigarette consumption, alcohol consumption, body mass index, low density lipoprotein, and total cholesterol, the ORs for CKD are 0.70 (95% CI = 0.55–0.90, p = 0.005), 0.75 (95% CI = 0.58–0.97, p = 0.027), 0.82 (95% CI = 0.68–0.99, p = 0.039), 0.74 (95% CI = 0.59–0.93, p = 0.011), and 0.79 (95% CI = 0.61–0.95, p = 0.018), respectively.Conclusion: Using genetic data, this study provides novel causal evidence that adiponectin can protect the kidney function and further reduce the risk of CKD.
The Number of MRGPRX2-Expressing Cells Is Increased in Skin Lesions of Patients With Indolent Systemic Mastocytosis, But Is Not Linked to Symptom Severity
Authors: Pyatilova Polina , Ashry Tameem , Luo Yanyan , He Jiajun , Bonnekoh Hanna , Jiao Qingqing , Moñino-Romero Sherezade , Hu Man , Scheffel Jörg , Frischbutter Stefan , Hermans Maud A. W. , Youngblood Bradford A. , Maurer Marcus , Siebenhaar Frank , Kolkhir Pavel 
Published: July 2022

BackgroundRecently, the expression of the mast cell (MC) receptor Mas-related G protein–coupled receptor X2 (MRGPRX2) has been detected in lesional skin of adult patients with cutaneous mastocytosis. As of yet, little is known about the clinical relevance of MRGPRX2 and its agonists in patients with mastocytosis, including indolent systemic mastocytosis (ISM).MethodsMRGPRX2 and MRGPRX2 agonists, cortistatin (CST), and major basic protein (MBP) were analyzed in lesional and non-lesional skin of patients with ISM and skin of healthy controls by immunohistochemistry. Co-localization of MRGPRX2 and MRGPRX2-mRNA with the MC marker tryptase was assessed by immunofluorescence microscopy and in situ hybridization, respectively. We assessed clinical, demographic, and laboratory data, including mastocytosis activity score (MAS), serum tryptase, and KIT D816V allele burden.ResultsThe number of MRGPRX2-expressing (MRGPRX2+) cells, MRGPRX2-mRNA+ MCs, and CST-expressing (CST+) and MBP-expressing (MBP+) cells was significantly higher in lesional skin as compared to non-lesional skin and/or skin of healthy controls (all p &lt; 0.05). Increased numbers of MRGPRX2+ cells, MRGPRX2-mRNA+ MCs, and CST+ and MBP+ cells were not associated with clinical and laboratory features of ISM, including disease burden, symptom severity, evidence of anaphylaxis, and tryptase levels.ConclusionsSkin lesions of patients with ISM showed high numbers of MRGPRX2+ cells, although they were not linked to symptom severity. Clinical relevance of the MRGPRX2-mediated pathway of MC activation in ISM remains unclear and should be investigated in further studies.
Effect of low-dose rituximab treatment on autoimmune nodopathy with anti-contactin 1 antibody
Authors: Hou Ying , Zhang Chao , Yu Xiaolin , Wang Wenqing , Zhang Dong , Bai Yunfei , Yan Chuanzhu , Ma Lin , Li Anning , Ji Jian , Cao Lili , Wang Qinzhou 
Published: July 2022

BackgroundAutoimmune nodopathy with anti-contactin-1 (CNTN1) responds well to rituximab instead of traditional therapies. Although a low-dose rituximab regimen was administered to patients with other autoimmune diseases, such as myasthenia gravis and neuromyelitis optica spectrum disorders, and satisfactory outcomes were obtained, this low-dose rituximab regimen has not been trialed in anti-CNTN1-positive patients.MethodsAnti–CNTN1 nodopathy patients were enrolled in this prospective, open-label, self-controlled pilot study. A cell-based assay was used to detect anti-CNTN1 antibodies and their subclasses in both serum and cerebrospinal fluid. Clinical features were evaluated at baseline, 2 days, 14 days, and 6 months after single low-dose rituximab treatment (600 mg). The titers of the subclasses of anti-CNTN1 antibody and peripheral B cells were also evaluated at baseline, 2 days, and 6 months after the rituximab regimen.ResultsTwo patients with anti–CNTN1 antibodies were enrolled. Both patients had neurological symptoms including muscle weakness, tremor, sensory ataxia, numbness and mild nephrotic symptoms. In the field of neurological symptoms, sensory ataxia markedly improved, and the titer of anti-CNTN1 antibody as well as CD19+ B cells decreased only two days following low-dose rituximab treatment. Other neurological symptoms improved within two weeks of rituximab treatment. At the 6-month follow-up, all neurological symptoms steadily improved with steroid reduction, and both the anti-CNTN1 antibody titer and CD19+ B cells steadily decreased. No adverse events were observed after this single low-dose rituximab treatment.ConclusionsWe confirmed the clinical efficacy of low-dose rituximab by B cell depletion in autoimmune nodopathy with anti-CNTN1 antibody. This rapid and long-lasting response suggests that low-dose rituximab is a promising option for anti-CNTN1 nodopathy.
Effects of Boric Acid Gel on Vaginal Candida albicans Infections and the Local Immune System in Mice
Authors: Guo Xiaoyu , Jing Tingting , Li Xiaojing , Liu Zhao , Chen Yongxue , Li Yiquan , Xu Yanyan , Gao Hongqi 
Published: July 2022

The objective was to determine the effect of 5% boric acid gel on vaginal Candida albicans (CA) infections in mice and its effect on the local immune system (i.e., Th1, Th2, and Th17). Female mice were divided into four groups, with 10 mice in each group. Mycelial suspensions were administered into the vaginal lumen close to the cervix in groups B, F, and M. Mice in group B were given boric acid gel, and group F was treated with fluconazole gel for 30 min every 12 h. Group M was treated with sterile water, and group N was not given treatment. After the seventh day of treatment, each group was observed with the naked eye, and vaginal lavage fluid and vaginal tissue were collected. Expression levels of cytokines were measured using enzyme-linked immunosorbent assays (ELISA) and immunohistochemistry. Periodic acid Schiff (PAS) staining was used to measure the fungi in vaginal tissues. There were no significant changes in group M. In groups B and F, there was less vaginal injury and less exudate, with group B doing better than group F. The numbers of CA colonies were higher in groups B, F, and M than in group N (P &lt; 0.01). There was less vaginal colonization of CA in group B than in group F (P &lt; 0.01). After the seventh day of treatment, levels of IFN-γ, IL-17, IL-6, TGF-β, IL-4, and IL-10 were significantly greater in groups B, F, and M than in group N (P &lt; 0.001); levels of IFN-γ, IL-17, IL-6, and TGF-β in groups B and F were higher than those of group M (P &lt; 0.01), while IL-4 and IL-10 levels were significantly lower (P &lt; 0.001). The trends of cytokine increases and decreases were more significant in group B than in group F (P &lt; 0.05). Immunohistochemical results were similar to ELISA results. PAS staining revealed that boric acid inhibited hyphal reproduction. The boric acid significantly reduced the symptoms associated with CA vaginal infection. It inhibited the CA growth, prevented vaginal lesions, promoted the secretion of Th1 and Th17 cytokines, and reduced Th2 cytokines.
Three Chinese pedigrees of A20 haploinsufficiency: clinical, cytokine and molecular characterization
Authors: Tian Yi , Wu Bingxuan , Peng Linyi , Wang Jian , Shen Min 
Published: July 2022

ObjectiveHaploinsufficiency of A20 (HA20) is a newly described rare autoinflammatory disease caused by TNFAIP3 gene mutations. HA20 has seldom been documented in the Chinese population. Herein, we report eight patients with HA20 from three unrelated families in China.MethodsEight Chinese Han patients were diagnosed with HA20 in our department from 2018 to 2021. Their clinical data and genotypes were carefully documented and studied. The newly identified variants were functionally verified. We also conducted a systematic literature review of HA20, and the clinical characteristics and genotype of HA20 between the Chinese population and other populations were compared.ResultsEight HA20 patients from three families comprised six adults and two children. There was one man and seven women. The clinical characteristics included recurrent oral ulcers (8/8, 100%), fever (4/8, 50%), perianal ulcer (3/8, 38%), skin lesions (2/8, 25%), arthritis (1/8, 13%), and uveitis (1/8, 13%). Three TNFAIP3 variants, A547T, c.1906+2T&gt;G, and R271X, were identified. Two novel variants, A547T and c.1906+2T&gt;G, were validated to be pathogenic in our study. In a literature review a total of 126 patients with HA20 reported by 35 articles were included. The clinical phenotype of Chinese HA20 patients was similar to that of patients from other populations except for a lower frequency of genital ulcers (16.7% vs. 54.4%, p &lt; 0.01). Autoantibodies were detectable in approximately one-third of the 126 patients, among which ANA and anti-thyroid antibodies were commonly seen.ConclusionThe rarity and diversity of phenotypes make the diagnosis of HA20 a huge challenge to physicians. HA20 should be considered in child-onset patients with manifestations that resemble Behçet’s syndrome, especially those whose family members have similar symptoms. Gene testing is critically helpful for the diagnosis of HA20. Two novel TNFAIP3 variants, A547T and c.1906+2T&gt;G, were identified in this study.
The Dolenc technique was used to clip 14 cases of ruptured basilar apex aneurysms and posterior cerebral artery aneurysms
Authors: Hongwei Zhang , Kang Xie , Aimin Li , Dong Zhang 
Published: July 2022

ObjectiveTo investigate the surgical techniques and their clinical effects for ruptured basilar artery apex and posterior cerebral aneurysms via the Dolenc approach.MethodsWe retrospectively analyzed the clinical data of 14 patients with ruptured basilar artery apex and posterior cerebral aneurysms who underwent surgical clipping by the Dolenc approach from July 2017 to June 2020 in Beijing Tiantan Hospital affiliated with Capital Medical University and Lianyungang Hospital affiliated with Xuzhou Medical University. The modified Rankin scale (mRs) scores were used to evaluate the prognosis of patients.ResultsAll 14 cases of aneurysms were successfully clipped. Overall, 1, 2, and 1 cases of postoperative new-onset visual loss, oculomotor nerve palsy, and contralateral hemiplegia, respectively, were reported. Digital subtraction angiography (DSA) or computed tomography angiography (CTA) examination of the aneurysm within 2 weeks after surgery revealed that the aneurysm was completely clipped without residue. The observations during the follow-up within 12–18 months after surgery were as follows: 1 case of vision loss returned to normal, 2 cases of oculomotor nerve palsy, 1 case of return to normal, 1 case of improved, 1 case of contralateral hemiplegia improved after rehabilitation treatment, and 1 case of hydrocephalus ventriculoperitoneal shunt surgery was performed. Overall, 11, 2, and 1 case had mRs scores of 0, 1, and 2, respectively. No death was reported.ConclusionFor the small number of basilar apical and posterior cerebral aneurysms treated non-invasively, the Dolenc approach may offer advantages over other modalities.
The Anch'Or Harpoon Technique With a Manually Expandable Stentretriever (Tigertriever 13), a Technical Note
Authors: Wang Maud , Elens Stephanie , Bonnet Thomas , Halut Marin , Suarez Juan Vazquez , Mine Benjamin , Lubicz Boris , Guenego Adrien 
Published: July 2022

Background and purposeStent and balloon anchor techniques have been described to obtain distal support and straighten catheter loops, stabilize microcatheters in giant aneurysms, or access distal tortuous anatomy during thrombectomy. These techniques require catheterization of distal arteries with a microcatheter but tortuosity and length issues may render it challenging, precluding the distal unsheathing of a classical auto-expandable stentretriever with the anchor technique.MethodsTherefore, we developed the so-called Anch'Or Harpoon Technique using a manually expandable stent retriever, the Tigertriever 13 (Rapid Medical, Yoqneam, Israel). Here, the stent retriever is not unsheathed but pushed out of a microcatheter, and then advanced as far as possible before manual opening.Results and conclusionThis technique may be used in 2 different situations. First, in the case of vessel tortuosity if the microcatheter can't be advanced as far as the physician wants: the Tigertriever 13 could be delivered through the microcatheter without having to unsheathe it, and be advanced and opened distally to its microcatheter to establish a stable anchor prior to advancing the guiding, intermediate, and micro-catheters (Anchor technique). The second situation is when distal occlusions lead to length issues; the microcatheter may be too short to cross a distal clot: the Tigertriever 13 could then be pushed out of the microcatheter, and be used to cross a sub-occlusive clot as it has a soft shaped distal tip and the physician has a visual on the artery beyond the sub-occlusion. Then, the Tigertriever would be manually expanded through the clot and retrieved (Harpoon technique) to obtain a recanalization.