[Clinical features and genetic analysis of four children with Phelan-McDermid syndrome].

Objective: To explore the clinical characteristics and genetic etiology of four children with Phelan-McDermid syndrome (PMS).

Methods: Four children who had visited the Ningbo Women and Children's Hospital between June 2, 2022 and May 8, 2023 were selected as the study subjects. Clinical data of the children were collected.

A prognostic model constructed by ferroptosis-associated genes (FAGs) in papillary renal cell carcinoma (PRCC) and its association with tumor mutation burden (TMB) and immune infiltration.

Background: This study aimed to identify the prognostic-related differentially expressed ferroptosis-associated genes (DEFAGs) in papillary renal cell carcinoma (PRCC).

Methods: Data encompassing simple nucleotide variation, transcriptome profiles, and relevant clinical information of PRCC patients were sourced from The Cancer Genome Atlas (TCGA) database. The expression matrix of ferroptosis-associated genes (FAGs) was analyzed using the "limma" package in R to identify differentially expressed DEFAGs.

Geranylgeranylacetone mitigates sepsis-associated intestinal injury through CHIP-dependent anti-inflammation and anti-oxidative effect.

Geranylgeranylacetone (GGA), an isoprenoid compound widely utilized as an antiulcer agent in Asia, confers protection against ischemia, anoxia, and oxidative stress by rapidly enhancing the expression of HSP70. Nevertheless, the impact of GGA on sepsis-associated intestinal injury remains unexplored. Thus, this study is crafted to elucidate the protective efficacy and underlying mechanisms of GGA against septic intestinal damage.

[Clinical phenotype and genetic analysis of a fetus with Cardiac valvular dysplasia type 1].

Objective: To explore the genetic basis for a fetus with Cardiac valvular dysplasia type 1 (CVDP1).

Methods: A CVDP1 fetus identified at the Ningbo Women and Children's Hospital on July 7, 2022 was selected as the study subject. Clinical data of the fetus was collected.

A novel 268 kb deletion combined with a splicing variant in IL7R causes of severe combined immunodeficiency in a Chinese family: a case report.

Background: Severe combined immunodeficiency (SCID) is a group of fatal primary immunodeficiencies characterized by the severe impairment of T-cell differentiation. IL7R deficiency is a rare form of SCID that usually presents in the first months of life with severe and opportunistic infections, failure to thrive, and a high risk of mortality unless treated. Although recent improvements in early diagnosis have been achieved through newborn screening, few IL7R-related SCID patients had been reported in the Chinese population.

[Clinical and genetic analysis of a rare fetus with Protein C deficiency due to compound heterozygous variants of PROC gene].

Objective: To explore the genetic etiology for a fetus with hydrocephalus and intraventricular hemorrhage.

Methods: Trio whole exome sequencing was carried out. Candidate variants were verified by Sanger sequencing of the fetus and its parents.

α 2 -ADRENORECEPTOR ANTAGONIST AMELIORATES SEPSIS-ASSOCIATED PULMONARY FIBROSIS BY SUPPRESSING NOREPINEPHRINE-MEDIATED FIBROBLAST DIFFERENTIATION VIA INHIBITING PKC ACTIVATION.

Pulmonary fibrosis is an important factor affecting the prognosis of severe septic patients with acute lung injury. The objective of this study was to explore the effect of norepinephrine (NE) and α 2 -adrenoreceptor (AR) on sepsis-associated pulmonary fibrosis and the mechanism underlying these effects. We found pulmonary fibrotic changes, and increased NE production and α 2A -AR expression in the pulmonary tissue of mice subjected to cecal ligation and puncture surgery.

Quantum generative adversarial learning in photonics.

Quantum generative adversarial networks (QGANs), an intersection of quantum computing and machine learning, have attracted widespread attention due to their potential advantages over classical analogs. However, in the current era of noisy intermediate-scale quantum (NISQ) computing, it is essential to investigate whether QGANs can perform learning tasks on near-term quantum devices usually affected by noise and even defects. In this Letter, using a programmable silicon quantum photonic chip, we experimentally demonstrate the QGAN model in photonics for the first time to our knowledge and investigate the effects of noise and defects on its performance.

[Clinical and genetic analysis of two children with Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language due to de novo variants of MEF2C gene].

Objective: To explore the clinical characteristics and genetic etiology for two children with Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language (MEDHSIL).

Methods: Two children who had visited the Ningbo Women and Children's Hospital on October 15, 2021 were selected as the study subjects. Whole exome sequencing (WES) was carried out for both patients.

Prenatal diagnosis to identify compound heterozygous variants in PKDCC that causes rhizomelic limb shortening with dysmorphic features in a fetus from China.

Background: Rhizomelic limb shortening with dysmorphic features (RLSDF) has already been a disorder of the rare autosomal recessive skeletal dysplasia, just having a few reported cases. RLSDF is caused by protein kinase domain containing, cytoplasmic(PKDCC)gene variants. In this study, we describe the clinical features and potential RLSDF molecular etiology in a fetus from China.

Experimental quantum natural gradient optimization in photonics.

Variational quantum algorithms (VQAs) combining the advantages of parameterized quantum circuits and classical optimizers, promise practical quantum applications in the noisy intermediate-scale quantum era. The performance of VQAs heavily depends on the optimization method. Compared with gradient-free and ordinary gradient descent methods, the quantum natural gradient (QNG), which mirrors the geometric structure of the parameter space, can achieve faster convergence and avoid local minima more easily, thereby reducing the cost of circuit executions.

[Prenatal diagnosis and genetic analysis for two Chinese pedigrees carrying large fragment deletions of 13q21].

Objective: To explore the strategies of prenatal diagnosis and genetic counseling for fetuses of two families with large deletions of 13q21.

Methods: Two singleton fetuses who were diagnosed with chromosome 13 microdeletions by non-invasive prenatal testing (NIPT) at Ningbo Women and Children's Hospital in March 2021 and December 2021 respectively were selected as the study subjects. Chromosomal karyotyping and chromosomal microarray analysis (CMA) were carried on amniotic samples.

Vibration-induced streaming flow near a sharp edge: Flow structure and instabilities in a large span of forcing amplitude.

The steady streaming generated near solid walls by the periodic forcing of a viscous fluid is known to be strongly enhanced near sharp structures, owing to centrifugal effects that lead to the generation of an intense jet from the sharp tip. This flow has been shown to provide efficient active mixing in microchannels, due to strong transverse velocity. The forcing is often prescribed by acoustic transducers, but it can also be generated from low-frequency time-periodic flow ensured by mechanical vibrations.

[Genetic analysis of a Chinese pedigree featuring non-simplex blepharocheilodontic syndrome].

Objective: To explore the genetic etiology of a Chinese pedigree featuring non-simplex blepharocheilodontic syndrome.

Methods: Whole exome sequencing was carried out to detect genetic variant and copy number variations (CNVs) in the pedigree. Suspected variants were verified by Sanger sequencing and qPCR.

Variational Entanglement-Assisted Quantum Process Tomography with Arbitrary Ancillary Qubits.

Quantum process tomography is a pivotal technique in fully characterizing quantum dynamics. However, exponential scaling of the Hilbert space with the increasing system size extremely restrains its experimental implementations. Here, we put forward a more efficient, flexible, and error-mitigated method: variational entanglement-assisted quantum process tomography with arbitrary ancillary qubits.

[A large-scale retrospective analysis of copy number variations in single center using ACMG-ClinGen latest guidelines].

Objective: Through a retrospective large sample analysis of copy number variants in single center, we explored the technical standards for the interpretation and reporting of constitutional copy-number variants (CNVs) jointly proposed by the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen) in 2019, analyzing its impact on CNVs ratings and the improvement in the consistency of the classification of CNVs in clinical laboratories.

Methods: 236 CNVs that assessed as pathogenic, uncertain significant (including likely pathogenic, uncertain and likely benign) by the 2011 ACMG guidelines between August 2018 and December 2019 in our center were re-analyzed. Four working group members of the center reclassified and evaluated 235 CNVs according to 2019 ACMG guidelines.

Development and Verification of Prognostic Nomogram for Penile Cancer Based on the SEER Database.

Aim: We aimed to establish a prognostic nomogram for penile cancer (PC) patients based on the Surveillance, Epidemiology, and End Results Program (SEER) database.

Methods: Data from 1643 patients between 2010 and 2015 were downloaded and extracted from the SEER database. They were randomly divided into the development group (70%) and the verification group (30%), and then, univariate and multivariate Cox proportional hazards regression, respectively, was used to explore the possible risk factors of PC.

[Analysis of TUBB2B gene variant in a fetus with complex cortical dysplasia with other brain malformations-7].

Objective: To explore the genetic basis for a fetus with dysgenesis of corpus callosum and other brain malformations.

Methods: Whole exome sequencing was carried out for the fetus and its parents. Suspected pathogenic variants were verified by Sanger sequencing.

[Variation analysis of EPG5 gene in a Vici syndrome family].

Objective: To explore the genetic etiology of Vici syndrome in a Chinese family.

Methods: Whole exome sequencing (WES) technology was used to detect gene variants in a fetus of abnormal ultrasonic structure without abnormalities in routine chromosome karyotype analysis and SNP-array. Sanger sequencing and bioinformatics prediction were performed for the suspected variants of the fetus and parents.

22q11.2 recurrent copy number variation-related syndrome: a retrospective analysis of our own microarray cohort and a systematic clinical overview of ClinGen curation.

Background: Chromosomal 22q11.2 dosage changes in the recurrent region can lead to a series of clinically variable pediatric syndromes. This study conducted a retrospective analysis of microarray tested cases with 22q11.

Defect-Free Metal Deposition on 2D Materials via Inkjet Printing Technology.

2D materials have many outstanding properties that make them attractive for the fabrication of electronic devices, such as high conductivity, flexibility, and transparency. However, integrating 2D materials in commercial devices and circuits is challenging because their structure and properties can be damaged during the fabrication process. Recent studies have demonstrated that standard metal deposition techniques (like electron beam evaporation and sputtering) significantly damage the atomic structure of 2D materials.

Variability and Yield in h-BN-Based Memristive Circuits: The Role of Each Type of Defect.

In the race of fabricating solid-state nano/microelectronic devices using 2D layered materials (LMs), achieving high yield and low device-to-device variability are the two main challenges. Electronic devices that drive currents in-plane and homogeneously along the 2D-LMs (i.e.