Exploring the use of biphasic quantitative thoracic computed tomography to evaluate halo-pelvic traction in managing severe adolescent idiopathic scoliosis.

Background: Patients diagnosed with severe adolescent idiopathic scoliosis (AIS) often experience reduced pulmonary function and lung volume due to deformities in the spine and ribcage. Presurgical halo-pelvic traction (HPT) has been used to treat severe scoliosis before second-stage surgery. Nevertheless, there is a scarcity of studies utilizing computed tomography (CT) scans to evaluate changes in lung volume post-HPT.

Pharmacovigilance analysis of orlistat adverse events based on the FDA adverse event reporting system (FAERS) database.

Objective: Based on the U.S. Food and Drug Administration Adverse Event Reporting System (FAERS) database, we analyzed the signals of potential adverse events (AEs) of orlistat in the real world to provide a reference for its safe clinical use.

Genotype-phenotype spectrum and correlation of PHARC Syndrome due to pathogenic ABHD12 variants.

Background: A comprehensive understanding of the genetic basis of rare diseases and their regulatory mechanisms is essential for human molecular genetics. However, the genetic mutant spectrum of pathogenic genes within the Chinese population remains underrepresented. Here, we reported previously unreported functional ABHD12 variants in two Chinese families and explored the correlation between genetic polymorphisms and phenotypes linked to PHARC syndrome.

Use of natural language processing techniques to predict patient selection for total hip and knee arthroplasty from radiology reports.

Aims: To examine whether natural language processing (NLP) using a clinically based large language model (LLM) could be used to predict patient selection for total hip or total knee arthroplasty (THA/TKA) from routinely available free-text radiology reports.

Methods: Data pre-processing and analyses were conducted according to the Artificial intelligence to Revolutionize the patient Care pathway in Hip and knEe aRthroplastY (ARCHERY) project protocol. This included use of de-identified Scottish regional clinical data of patients referred for consideration of THA/TKA, held in a secure data environment designed for artificial intelligence (AI) inference.

Molecular diagnosis, clinical evaluation and phenotypic spectrum of Townes-Brocks syndrome: insights from a large Chinese hearing loss cohort.

Background: Townes-Brocks syndrome (TBS) is a rare genetic disorder characterised by multiple malformations. Due to its phenotypic heterogeneity and rarity, diagnosis and recognition of TBS can be challenging and there has been a lack of investigation of patients with atypical TBS in large cohorts and delineation of their phenotypic characteristics.

Methods: We screened and variants using next-generation sequencing in the China Deafness Genetics Consortium (CDGC) cohort enrolling 20 666 unrelated hearing loss (HL) cases.

Unzipping Carbon Nanotubes to Sub-5-nm Graphene Nanoribbons on Cu(111) by Surface Catalysis.

Graphene nanoribbons (GNRs) are promising in nanoelectronics for their quasi-1D structures with tunable bandgaps. The methods for controllable fabrication of high-quality GNRs are still limited. Here a way to generate sub-5-nm GNRs by annealing single-walled carbon nanotubes (SWCNTs) on Cu(111) is demonstrated.

Quantitative thresholds for variant enrichment in 13,845 cases: improving pathogenicity classification in genetic hearing loss.

Background: The American College of Medical Genetics and Genomics (ACMG)/Association for Molecular Pathology (AMP) guidelines recommend using variant enrichment among cases as "strong" evidence for pathogenicity per the PS4 criterion. However, quantitative support for PS4 thresholds from real-world Mendelian case-control cohorts is lacking.

Methods: To address this gap, we evaluated and established PS4 thresholds using data from the Chinese Deafness Genetics Consortium.

KPT330 promotes the sensitivity of glioblastoma to olaparib by retaining SQSTM1 in the nucleus and disrupting lysosomal function.

AO: acridine orange; ATM: ATM serine/threonine kinase; CHEK1: checkpoint kinase 1; CHEK2: checkpoint kinase 2; CI: combination index; DMSO: dimethyl sulfoxide; DSBs: double-strand breaks; GBM: glioblastoma; HR: homologous recombination; H2AX: H2A.X variant histone; IHC: immunohistochemistry; LAPTM4B: lysosomal protein transmembrane 4 beta; MAP1LC3/LC3: microtubule associated protein 1 light chain 3; PARP: poly(ADP-ribose) polymerase; RAD51: RAD51 recombinase; SQSTM1: sequestosome 1; SSBs: single-strand breaks; RNF168: ring finger protein 168; XPO1: exportin 1.

Structure transformation from Sierpiński triangles to chains assisted by gas molecules.

Reversible transformations between fractals and periodic structures are of fundamental importance for understanding the formation mechanism of fractals. Currently, it is still a challenge to controllably achieve such a transformation. We investigate the effect of CO and CO molecules on Sierpiński triangles (STs) assembled from Fe atoms and 4,4″-dicyano-1,1':3',1″-terphenyl (C3PC) molecules on Au surfaces.

Using Artificial Intelligence to Revolutionise the Patient Care Pathway in Hip and Knee Arthroplasty (ARCHERY): Protocol for the Development of a Clinical Prediction Model.

Background: Hip and knee osteoarthritis is substantially prevalent worldwide, with large numbers of older adults undergoing joint replacement (arthroplasty) every year. A backlog of elective surgery due to the COVID-19 pandemic, and an aging population, has led to substantial issues with access to timely arthroplasty surgery. A potential method to improve the efficiency of arthroplasty services is by increasing the percentage of patients who are listed for surgery from primary care referrals.

DVPred: a disease-specific prediction tool for variant pathogenicity classification for hearing loss.

Numerous computational prediction tools have been introduced to estimate the functional impact of variants in the human genome based on evolutionary constraints and biochemical metrics. However, their implementation in diagnostic settings to classify variants faced challenges with accuracy and validity. Most existing tools are pan-genome and pan-diseases, which neglected gene- and disease-specific properties and limited the accessibility of curated data.

Green synthesis of manganese-cobalt-tungsten composite oxides for degradation of doxycycline via efficient activation of peroxymonosulfate.

The advanced oxidation process of peroxymonosulfate activated by solid catalyst is one of the main technologies to solve the pollution of antibiotics in water environment.In this work, a series of composites (MCW) containing Mn, Co, and W were synthesized using green ball milling, which does not produce the three wastes (waste gas, waste water and industrial residue). It shows a unique and high catalytic activity for peroxymonosulfate-based degradation of doxycycline (DC) under the pH condition between 4 and 9, and it can be reused five times.

Holey platinum nanotubes for ethanol electrochemical reforming in aqueous solution.

The catalytic/electrocatalytic performance of platinum (Pt) nanostructures highly relates to their morphology. Herein, we propose a facile self-template pyrolysis strategy at high temperature to synthesize one-dimensionally holey Pt nanotubes (Pt-hNTs) using Pt-dimethylglyoxime complex (Pt-DMG) nanorods as the reaction precursor. The coordination capability of DMG results in the generation of Pt-DMG nanorods, whereas the reducibility of DMG at high temperature leads to the reduction of Pt species in Pt-DMG nanorods.

Efficient treatment of digested piggery wastewater via an improved anoxic/aerobic process with Myriophyllum spicatum and bionic aquatic weed.

The traditional anoxic/aerobic process (A/O) process is widely used for treating digested piggery wastewater, but the lack of carbon sources leads to poor efficiency. Therefore, the process needs optimization to achieve high-efficiency and low-cost operation mode. In this study, an improved A/O system with bionic aquatic weed and Myriophyllum sp.

The IDEAL household energy dataset, electricity, gas, contextual sensor data and survey data for 255 UK homes.

The IDEAL household energy dataset described here comprises electricity, gas and contextual data from 255 UK homes over a 23-month period ending in June 2018, with a mean participation duration of 286 days. Sensors gathered 1-second electricity data, pulse-level gas data, 12-second temperature, humidity and light data for each room, and 12-second temperature data from boiler pipes for central heating and hot water. 39 homes also included plug-level monitoring of selected electrical appliances, real-power measurement of mains electricity and key sub-circuits, and more detailed temperature monitoring of gas- and heat-using equipment, including radiators and taps.

On-surface preparation of coordinated lanthanide-transition-metal clusters.

The study of lanthanide (Ln)-transition-metal (TM) heterometallic clusters which play key roles in various high-tech applications is a rapid growing field of research. Despite the achievement of numerous Ln-TM cluster compounds comprising one Ln atom, the synthesis of Ln-TM clusters containing multiple Ln atoms remains challenging. Here, we present the preparation and self-assembly of a series of Au-bridged heterometallic clusters containing multiple cerium (Ce) atoms via on-surface coordination.

Two novel BTD mutations causing profound biotinidase deficiency in a Chinese patient.

Background: Biotinidase deficiency (OMIM 253260) is an autosomal recessively inherited disorder affecting about 1/60,000 people worldwide. The absence or deficiency of biotinidase impairs free biotin recycling and affects biotin-dependent carboxylase functions.

Methods: A Chinese patient with spontaneous recurrent epilepsy, an eczema-like rash, hair loss, hypotonia, and hearing loss began at three months of age.

Synthesis of water-soluble fluorescent polymeric glycoconjugate for the detection of cholera toxin.

Considering inherence optical properties of adjoint polyfluorenes and special functions of water-soluble conjugated glycopolymers, a triazole chain glycoconjugate via one-pot method were rapidly synthesized to prepare a lactate ligand polyfluorene with a clear fluorescent label by a nickel-catalyzed Yamamoto coupling polymerization. The water solubility and biocompatibility of the glycoconjugated polymer were ameliorated when the lactose group introduced as the side chain of the conjugated polymer. As a fluorescent multivalent system of glycoconjugates containing pyranogalactose groups, the interaction between pyranogalactose group and cholera toxin B subunit was studied by fluorescence spectrophotometric titration.

Identification of a complex genomic rearrangement in TMPRSS3 by massively parallel sequencing in Chinese cases with prelingual hearing loss.

Background: Genetic variants in TMPRSS3 have been causally linked to autosomal recessive nonsyndromic hearing loss (HL) at the DFNB8 and DFNB10 loci. These variants include both single nucleotide and copy number variations (CNVs). In this study, we aim to identify the genetic cause in three Chinese subjects with prelingual profound sensorineural HL.

Inhibition of STAT3 signaling as critical molecular event in resveratrol-suppressed ovarian cancer cells.

Background: Resveratrol exerts inhibitory effects on ovarian cancer cells, while its underlying mechanism and critical molecular target(s) have been lesser known. Activations of Wnt, Notch and STAT3 signaling are frequent in ovarian cancers/OCs and supposed to be important for OC formation and progression, while the impacts of resveratrol on these signaling pathways in OC cells remain obscure.

Methods: In this study, two human ovarian cancer cell lines, OVCAR-3 and CAOV-3, were treated by 120 μM resveratrol and their responses to the treatment and the statuses of Wnt, Notch and STAT3 signaling in them were analyzed by multiple experimental approaches.