Genetic Diagnosis and Clinical Features of Fetuses With Congenital Diaphragmatic Hernia.

Objective: Congenital diaphragmatic hernia (CDH) is a rare abnormality with highly heterogeneous genetic causes. This study investigated chromosomal and monogenic abnormalities in fetal CDH patients and evaluated the efficacy of chromosomal microarray analysis (CMA) and whole-exome sequencing (WES) for genetic diagnosis. The clinical features of the patients were also evaluated.

Long-read sequencing enables comprehensive molecular genetic diagnosis of Fabry disease.

Background: The clinical diagnosis of Fabry Disease (FD) can be challenging due to the clinical heterogeneity, especially in females. Patients with FD often experience a prolonged interval between the onset of symptoms and receiving a diagnosis. Genetic testing is the gold standard for precise diagnosis of FD, however conventional genetic testing could miss deep intronic variants and large deletions or duplications.

NIR Diradical-Featured Croconaine Nanoagent for Cancer Photoacoustic Imaging and Photothermal Therapy.

Radical-featured organic materials usually demonstrate significantly narrower bandgap than that of regular organic materials, which is beneficial for near-infrared (NIR) absorption and non-radiative decay process, making them good candidates for photothermal agents (PTAs) of photothermal therapy (PTT). However, most organic radicals are too short-lived to be separated and stable. Herein, a stable pyrylium-croconaine (CR) dye CR845 with high diradical character was synthesized and assembled into CR845 nanoparticles (NPs) to explore the photoacoustic imaging (PAI) and photothermal therapeutic performance under NIR irradiation in vitro and in vivo.

How to manage and avoid revision after unicompartmental knee arthroplasty?

The article by Zhao presents a retrospective case series on the reasons for initial revision after unicompartmental knee arthroplasty (UKA). Clarifying the reasons that may cause UKA revision can further reduce the rate of revision UKA, focusing on gasket dislocation, osteophytes, intra-articular loose bodies, and tibial prosthesis loosening. This article provides valuable insights, not only by detailing the revision status of 13 patients who underwent revision after initial UKA but also by providing a comprehensive analysis of the incidence of revision after initial UKA.

Approach to the Patient: Diagnosis and Treatment with Growth Hormone of Turner Syndrome and its Variants.

Context: Turner syndrome (TS) is characterized by a partial or complete absence of the second X chromosome in female. Here, patients with Xp deletion involving SHOX haploinsufficiency caused by unbalanced X-autosome translocations were discussed and considered as TS variants.

Objective: This work aimed to expand the current knowledge of TS and unbalanced X-autosome translocations and to suggest the definition, clinical characteristics, diagnosis workflow and growth hormone (GH) treatment strategy of TS and its variants.

Leveraging cell death patterns to predict metastasis in prostate adenocarcinoma and targeting PTGDS for tumor suppression.

Metastasis is the major cause of treatment failure in patients with prostate adenocarcinoma (PRAD). Diverse programmed cell death (PCD) patterns play an important role in tumor metastasis and hold promise as predictive indicators for PRAD metastasis. Using the LASSO Cox regression method, we developed PCD score (PCDS) based on differentially expressed genes (DEGs) associated with PCD.

AI-enabled sports-system peer-to-peer energy exchange network for remote areas in the digital economy.

In remote areas, particularly in developing countries, there is a growing interest in off-grid solar PV systems for their ability to provide clean and affordable electricity. However, these systems often face limitations in powering essential amenities, including sports facilities, due to restricted capabilities and inadequate battery storage. To address these challenges and promote energy independence, this paper proposes an AI-enabled sports-system peer-to-peer (P2P) energy exchange network within the digital economy.

Regio- and Diastereoselective Annulation of α,β-Unsaturated Aldimines with Alkenes via Allylic C(sp)-H Activation by Rare-Earth Catalysts.

The [3 + 2] or [4 + 2] annulation of α,β-unsaturated aldimines with alkenes via β'- or γ-allylic C(sp)-H activation is, in principle, an atom-efficient route for the synthesis of five- or six-membered-ring cycloalkylamines, which are important structural motifs in numerous natural products, bioactive molecules, and pharmaceuticals. However, such a transformation has remained undeveloped to date probably due to the lack of suitable catalysts. We report herein for the first time the regio- and diastereoselective [3 + 2] and [4 + 2] annulations of α,β-unsaturated imines with alkenes via allylic C(sp)-H activation by half-sandwich rare-earth catalysts having different metal ion sizes.

Unveiling potential drug targets for hyperparathyroidism through genetic insights via Mendelian randomization and colocalization analyses.

Hyperparathyroidism (HPT) manifests as a complex condition with a substantial disease burden. While advances have been made in surgical interventions and non-surgical pharmacotherapy for the management of hyperparathyroidism, radical options to halt underlying disease progression remain lacking. Identifying putative genetic drivers and exploring novel drug targets that can impede HPT progression remain critical unmet needs.

Divergent Synthesis of Multi-Substituted Aminotetralins via [4+2] Annulation of Aldimines with Alkenes by Rare-Earth-Catalyzed Benzylic C(sp )-H Activation.

The search for efficient and selective methods for the divergent synthesis of multi-substituted aminotetralins is of much interest and importance. We report herein for the first time the diastereoselective [4+2] annulation of 2-methyl aromatic aldimines with alkenes via benzylic C(sp )-H activation by half-sandwich rare-earth catalysts, which constitutes an efficient route for the divergent synthesis of both trans and cis diastereoisomers of multi-substituted 1-aminotetralin derivatives from readily accessible aldimines and alkenes. The use of a scandium catalyst bearing a sterically demanding cyclopentadienyl ligand such as C Me SiMe or C Me exclusively afforded the trans-selective annulation products in the reaction of aldimines with styrenes and aliphatic alkenes.

Contribution of uniparental disomy to fetal growth restriction: a whole-exome sequencing series in a prenatal setting.

Fetal growth restriction (FGR), a leading cause of perinatal morbidity and mortality, is caused by fetal, maternal, and placental factors. Uniparental disomy (UPD) is a rare condition that leads to imprinting effects, low-level mosaic aneuploidies and homozygosity for pathogenic variants. In the present study, UPD events were detected in 5 women with FGR by trio exome sequencing (trio-WES) of a cohort of 150 FGR cases.

Exploring the role of mutual prediction in inter-brain synchronization during competitive interactions: an fNIRS hyperscanning investigation.

Mutual prediction is crucial for understanding the mediation of bodily actions in social interactions. Despite this importance, limited studies have investigated neurobehavioral patterns under the mutual prediction hypothesis in natural competitive scenarios. To address this gap, our study employed functional near-infrared spectroscopy hyperscanning to examine the dynamics of real-time rock-paper-scissors games using a computerized paradigm with 54 participants.

Detection of Mosaic Absence of Heterozygosity (AOH) Using Low-Pass Whole Genome Sequencing in Prenatal Diagnosis: A Preliminary Report.

: Mosaicism is a common biological phenomenon in organisms and has been reported in many types of chromosome abnormalities, including the absence of heterozygosity (AOH). Due to the detection limitations of the sequencing approach, mosaic AOH events are rarely assessed in clinical cases. Herein, we report the performance of mosaic AOH identification using a low-pass (5~8-fold) WGS method (termed 'CMA-seq', an abbreviation for 'Chromosome Analysis by Sequencing') in fetal genetic diagnosis.

Prenatal genetic diagnosis of disseminated infantile myofibromatosis: a case report and literature review.

Background: Infantile myofibromatosis (IM) is a rare disorder characterized by the formation of nodules in the skin, muscle, bone, and, more rarely, visceral organs. Very few cases are detected prenatally, and the final diagnosis cannot be made until pathology is completed after birth. Here, we present a case of disseminated form IM (DFIM) with a diagnosis established on prenatal genetic grounds.

[Accidental discovery of copy number variation on chromosome 1 in a fetus with high risk of trisomy 13 suggested by NIPT].

Objective: To validate a fetus with high risk for trisomy 13 suggested by non-invasive prenatal testing (NIPT).

Methods: The fetus was selected as the study subject after the NIPT detection at Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences on February 18, 2019. Clinical data of the pregnant woman was collected.

NIR squaraine dyes for dual colorimetric and fluorescent determination of Fe, Cu, and Hg ions.

Four benzoindolenine-based squaraine dyes (SQs), which have the advantages of intense visible and near-infrared (NIR) absorption and emission ( 663-695 nm, 686-730 nm) were synthesized and characterized by UV-vis absorption, fluorescent emission spectrophotometry, FTIR, NMR and HRMS analysis. Among them, BBSQ showed excellent performance, which exhibited high selectivity to Fe, Cu, and Hg in acetonitrile solution even in the presence of other competitive metal ions, accompanied by obvious color change easily detected by the naked eye. The detection limit was 14.

The Application of Optical Genome Mapping (OGM) in Severe Short Stature Caused by Duplication of 15q14q21.3.

(1) Background: Optical genome mapping (OGM) is a novel approach to identifying genomic structural variations with high accuracy and resolution. We report a proband with severe short stature caused by 46, XY, der (16) ins (16;15) (q23; q21.3q14) that was detected by OGM combined with other tests and review the clinical features of patients with duplication within 15q14q21.

Predictive factors and prognosis of immune checkpoint inhibitor-related pneumonitis in non-small cell lung cancer patients.

Objective: To investigate the influencing factors and prognosis of immune checkpoint inhibitor-related pneumonitis (CIP) in advanced non-small cell lung cancer (NSCLC) patients during or after receiving immune checkpoint inhibitors(ICIs).

Methods: The clinical and laboratory indicator data of 222 advanced NSCLC patients treated with PD-1/PD-L1 inhibitors at the First Affiliated Hospital of Zhengzhou University between December 2017 and November 2021 were collected retrospectively. The patients were divided into a CIP group (n=41) and a non-CIP group (n=181) according to whether they developed CIP or not before the end of follow-up.