Ferromagnetic Insulating Ground-State Resolved in Mixed Protons and Oxygen Vacancies-Doped La0.67Sr0.33CoO3 Thin Films via Ionic Liquid Gating.

The realization of ferromagnetic insulating ground state is a critical prerequisite for spintronic applications. By applying electric field-controlled ionic liquid gating (ILG) to stoichiometry La0.67Sr0.33CoO3 thin films, the doping of protons (H+) has been achieved for the first time. Furthermore, a hitherto-unreported ferromagnetic insulating phase with a remarkably high Tc up to 180 K has been observed which can be attributed to the doping of H+ and the formation of oxygen vacancies (VO). The chemical formula of the dual-ion migrated film has been identified as La2/3Sr1/3CoO8/3H2/3 based on combined Co L23-edge absorption spectra and configuration interaction cluster calculations, from which we are able to explain the ferromagnetic ground state in terms of the distinct magnetic moment contributions from Co ions with octahedral (Oh) and tetrahedral (Td) symmetries following antiparallel spin alignments. Further density functional theory calculations have been performed to verify the functionality of H+ as the transfer ion and the origin of the novel ferromagnetic insulating ground state. Our results provide a fundamental understanding of the ILG regulation mechanism and shed light on the manipulating of more functionalities in other correlated compounds through dual-ion manipulation.

X chromosome rearrangement associated with premature ovarian insufficiency as diagnosed by molecular cytogenetic methods: a case report and review of the literature.

BACKGROUND: Premature ovarian insufficiency (POI) is a clinical condition characterized by ovarian dysfunction in women under 40. The etiology of most POI cases remains unidentified and is believed to be multifactorial, including factors such as autoimmunity, metabolism, infection, and genetics. POI exhibits significant genetic heterogeneity, and it can result from chromosomal abnormalities and monogenic defects. CASE PRESENTATION: The study participant, a 33-year-old woman, presented with a history of irregular menstruation that commenced two years ago, progressing to prolonged menstrual episodes and eventual cessation. The participant exhibits a rearrangement of the X chromosome, characterized by heterozygosity duplication on the long arm and heterozygosity deletion on the short arm by whole exome sequencing(WES) combined with cell chromosome detection. CONCLUSIONS: This study expands the spectrum of mutations associated with POI resulting from X chromosomal abnormalities. WES-Copy number variation analysis, in conjunction with chromosome karyotype analysis and other detection techniques, can provide a more comprehensive understanding of the genetic landscape underlying complex single or multi-system diseases.

Investigating the shared genetic architecture between hypothyroidism and rheumatoid arthritis.

Background: There is still controversy regarding the relationship between hypothyroidism and rheumatoid arthritis (RA), and there has been a dearth of studies on this association. The purpose of our study was to explore the shared genetic architecture between hypothyroidism and RA. Methods: Using public genome-wide association studies summary statistics of hypothyroidism and RA, we explored shared genetics between hypothyroidism and RA using linkage disequilibrium score regression, ρ-HESS, Pleiotropic analysis under a composite null hypothesis (PLACO), colocalization analysis, Multi-Trait Analysis of GWAS (MTAG), and transcriptome-wide association study (TWAS), and investigated causal associations using Mendelian randomization (MR). Results: We found a positive genetic association between hypothyroidism and RA, particularly in local genomic regions. Mendelian randomization analysis suggested a potential causal association of hypothyroidism with RA. Incorporating gene expression data, we observed that the genetic associations between hypothyroidism and RA were enriched in various tissues, including the spleen, lung, small intestine, adipose visceral, and blood. A comprehensive approach integrating PLACO, Bayesian colocalization analysis, MTAG, and TWAS, we successfully identified TYK2, IL2RA, and IRF5 as shared risk genes for both hypothyroidism and RA. Conclusions: Our investigation unveiled a shared genetic architecture between these two diseases, providing novel insights into the underlying biological mechanisms and establishing a foundation for more effective interventions.

CA153 in Breast Secretions as a Potential Molecular Marker for Diagnosing Breast Cancer: A Meta Analysis.

PURPOSE: Many studies have reported that carbohydrate antigen 153 (CA153) in breast secretions (BS) can discriminate breast cancer (BC) patients from healthy individuals, indicating CA153 in BS as a potential index for BC. This meta-analysis aimed to evaluate the actual diagnostic value of CA153 in BS. METHODS: Related papers were obtained from Pubmed, Embase, Scopus, Ovid, Sciverse, the Cochrane library, Chinese Biomedical literature Database (CBM), Technology of Chongqing (VIP), Wan Fang Data, and Chinese National Knowledge Infrastructure (CNKI). Pooled sensitivity, specificity, and diagnostic odds ratio (DOR) of CA153 in BS for BC diagnosis were analyzed with the random effect model. SROC and the area under the curve (AUC) were applied to assess overall diagnostic efficiency. RESULTS: This meta-analysis included five studies with a total of 329 BC patients and 381 healthy subjects. For CA153 in BS, the summary sensitivity, specificity, and DOR to diagnose BC were 0.63 (95% confidence interval (CI): 0.57∼0.68), 0.82 (95% CI: 0.78∼0.86), and 9.18 (95% CI: 4.22∼19.95), respectively. Furthermore, the AUC of BS CA153 in the diagnosis of BC was 0.8614. CONCLUSIONS: CA153 in BS is a valuable molecular marker in diagnosing BC and should be applied in standard clinical practices of BC screening upon confirmation of our findings in a larger prospective study.

CEA in breast ductal secretions as a promising biomarker for the diagnosis of breast cancer: a systematic review and meta-analysis.

PURPOSE: Other studies have shown that levels of carcinoembryonic antigen (CEA) in breast ductal secretions (BDS) differ significantly between breast cancer (BC) patients and healthy individuals, providing direct evidence for CEA in BDS as a promising biomarker for BC. This meta-analysis was designed to assess the potential diagnostic value of CEA in BDS. METHODS: Relevant articles were retrieved from Embase, Pubmed, and the Cochrane Library. Sensitivity, specificity, and diagnostic odds ratio (DOR) of CEA in BDS for diagnosing BC were pooled using random effects models. SROC and the area under the curve (AUC) were used to estimate overall diagnostic performance. RESULTS: This meta-analysis comprised five studies with a total of 340 BC patients and 448 healthy controls. For CEA in BDS, the pooled sensitivity, specificity, and DOR to diagnose BC were 58 % [95 % confidence interval (CI): 52-63 %], 87 % (95 % CI: 84-90 %), and 7.07 (95 % CI: 3.10-16.12), respectively. Moreover, the AUC of CEA in the diagnosis of BC was 0.8570. CONCLUSIONS: CEA in BDS is a promising biomarker in the diagnosis of BC and should be evaluated as a standard screening tool upon verification of our results in a larger study population.

The Outcomes and Quality of Life of Patients with Achalasia after Peroral Endoscopic Myotomy in the Short-Term.

PURPOSE: To assess the short-term efficacy and quality of life (QOL) of patients with achalasia after peroral endoscopic myotomy (POEM). METHODS: Thirty-five achalasia patients underwent POEM from May 2013 to December 2013. The data on clinical evaluation and QOL before therapy, at 1 month and 6 months postoperation were collected and analyzed. RESULTS: All the thirty-five patients underwent POEM successfully. By comparing the data of the preoperative with that of 1 month and 6 months after POEM respectively, we found that: mean Eckardt score decreased (6.83 vs 0.51, 6.83 vs 0.46, all P <0.05), esophagus diameter reduced (47.97 mm vs 32.00 mm, 47.97 mm vs 28.50 mm, all P <0.05), and esophageal manometry declined (29.5 mmHg vs 11.5 mmHg, 29.5 mmHg vs 10.3 mmHg, all P <0.05). Complications occurred in 14.3% (5/35) of the cases, and no recurrence was observed. At each time point, postoperative QOL scores were higher than those of preoperative (P <0.05). CONCLUSIONS: POEM is safe and effective for treating achalasia in the short-term, it can relieve clinic symptoms as well as improve patients' QOL.