The First Case of Serogroup Y and An Expanded Investigation of Healthy Carriers - Shijiazhuang City, Hebei Province, China, 2023.

What Is Already Known About This Topic?: (Nm) is a bacterial pathogen that causes meningococcal disease. Serogroups A, B, C, W, X, and Y account for the vast majority of cases. However, invasive meningococcal disease (IMD) caused by NmY is rare in China and has been reported only in Tianjin, Guangdong, Shanghai, and Hunan provinces and cities.

The Phenotypic and Genotypic Spectrum of CSF1R-Related Disorder in China.

Background: Colony-stimulating factor 1 receptor (CSF1R)-related disorder (CRD) is a rare autosomal dominant disease. The clinical and genetic characteristics of Chinese patients have not been elucidated.

Objective: The objective of the study is to clarify the core features and influence factors of CRD patients in China.

MGMT unmethylation and high levels of CD47 and TIGIT indicate a poor prognosis in adult diffuse gliomas.

Introduction: In 2021, the World Health Organization published a new classification system for central nervous system tumors. This study reclassified the adult diffuse glioma (ADG) into astrocytoma, oligodendroglioma, and glioblastoma (GBM) according to the new tumor classification.

Methods: The association of TERT promoter (pTERT) mutation, MGMT methylation, and CD47/TIGIT expression with patient prognosis was investigated.

Clinical and genetic characteristics in a Chinese cohort of complex spastic paraplegia type 4.

Spastic paraplegia type 4 (SPG4), caused by SPAST mutations, is the most predominant subtype of hereditary spastic paraplegia. Most documented SPG4 patients present as pure form, with the complex form rarely reported. We described the clinical and genetic features of 20 patients with complex phenotypes of SPG4 and further explored the genotype-phenotype correlations.

Clinical and Genetic Spectrum in a Large Cohort of Hereditary Spastic Paraplegia.

Background: Next-generation sequencing-based molecular assessment has benefited the diagnosis of hereditary spastic paraplegia (HSP) subtypes. However, the clinical and genetic spectrum of HSP due to large fragment deletions/duplications has yet to be fully defined.

Objective: We aim to better characterize the clinical phenotypes and genetic features of HSP and to provide new thoughts on diagnosis.

Adult-onset neuronal intranuclear inclusion disease related retinal degeneration: a Chinese case series.

Purpose: To evaluate adult-onset neuronal intranuclear inclusion disease (NIID)-related retinopathy with guanine-guanine-cytosine repeat expansions in .

Materials And Methods: Neuro-ophthalmic evaluations, including best-corrected visual acuity, slit-lamp biomicroscopy, intraocular pressure (IOP), ultrasound biomicroscopy, pupillometry, fundus photography, fundus autofluorescence (FAF), optical coherence tomography (OCT), Humphrey visual field, full-field electroretinography (ERG), and multifocal ERG (mf-ERG) were performed in patients with gene-proven NIID.

Results: Nine patients (18 eyes) were evaluated, with a median age of 62 years (55-68) and only one man was included in our study.

Role of Histiocyte-Derived frHMGB1 as a Facilitator in Noncanonical Pyroptosis of Monocytes/Macrophages in Lethal Sepsis.

In this study, we investigated the role of the noncanonical pyroptosis pathway in the progression of lethal sepsis. Our findings emphasize the significance of noncanonical pyroptosis in monocytes/macrophages for the survival of septic mice. We observed that inhibiting pyroptosis alone significantly improved the survival rate of septic mice and that the HMGB1 A box effectively suppressed this noncanonical pyroptosis, thereby enhancing the survival of septic mice.

Episodic Neurological Dysfunction in X-Linked Charcot-Marie-Tooth Disease: Expansion of the Phenotypic and Genetic Spectrum.

Background And Purpose: X-linked Charcot-Marie-Tooth disease type 1 (CMTX1) is characterized by peripheral neuropathy with or without episodic neurological dysfunction. We performed clinical, neuropathological, and genetic investigations of a series of patients with mutations of the gap-junction beta-1 gene () to extend the phenotypic and genetic description of CMTX1.

Methods: Detailed clinical evaluations, sural nerve biopsy, and genetic analysis were applied to patients with CMTX1.

The marksman: Bioactivated nematicides selectively kill plant-parasitic nematodes.

Plant-parasitic nematodes destroy crops and have a major impact on the food supply, but using chemicals to control them poses a risk to other animals and people. Selectivins kill nematodes but have little effect on other organisms.

Spastic paraplegia type 76 due to novel CAPN1 mutations: three case reports with literature review.

Spastic paraplegia type 76 (SPG76) is a subtype of hereditary spastic paraplegia (HSP) caused by calpain-1 (CAPN1) mutations. Our study described the phenotypic and genetic characteristics of three families with spastic ataxia due to various CAPN1 mutations and further explored the pathogenesis of the two novel mutations. The three patients were 48, 39, and 48 years old, respectively.

Interferometric fiber-optic gyroscope based on mode-division multiplexing.

The interferometric fiber-optic gyroscope (IFOG) is widely used in the fields of inertial navigation and rotational seismology. A direct way to improve the sensitivity of the IFOG is to increase the length of the sensing fiber, but this increases the cost and size of the gyroscope. Here, we propose an IFOG based on mode-division multiplexing (MDM), which exhibits relatively high performance.

Dual-polarization interferometric fiber optic gyroscope based on a four-port circulator.

The dual-polarization interferometric fiber optic gyroscope (IFOG) has been studied for many years and achieved remarkable performance. In this study, we propose a novel dual-polarization IFOG configuration based on a four-port circulator, in which the polarization coupling errors and the excess relative intensity noise are well handled meanwhile. Experimental measurements of the short-term sensitivity and long-term drift using a fiber coil with a length of 2 km and a diameter of 14 cm show that the angle random walk of 5.

S1PR1-dependent migration of ILC3s from intestinal tissue to the heart in a mouse model of viral myocarditis.

Type 3 innate lymphocytes have recently been reported as key factors in inflammatory diseases, but their role in viral myocarditis is unclear. By flow cytometry, coxsackievirus B3-induced myocarditis mice were detected to increase the number of type 3 innate lymphocytes, and their main type was NKp46+ type 3 innate lymphocytes. In contrast, application of CD90.

Compensation of scale factor nonlinear error introduced by harmonic distortion for open-loop fiber optic gyroscopes.

The scale factor (SF) of a gyroscope is the ratio of the detection output rotational rate and the input, and is expected to be a constant. However, for open-loop interferometric fiber optic gyroscopes (IFOGs) with sinusoidal modulation, harmonic amplitudes are inevitably affected by detection defects, such as nonuniform frequency response of the photodetector or unequal gain of amplification circuits. As a result, harmonic distortion leads to SF nonlinearity, which seriously hinders the accuracy of high-precision gyroscopes.

Angular accelerometer based on a dual-polarization fiber-optic Sagnac interferometer.

High-performance angular accelerometers are essential for precise dynamics control of aircraft, satellites, etc. Here, we propose, for the first time to the best of our knowledge, an angular accelerometer based on a dual-polarization fiber-optic Sagnac interferometer, which exhibits relatively high sensitivity and a broad bandwidth. The experimental results show that the angular accelerometer achieves a flat frequency response in the bandwidth range of 0.

Expressions and Prognostic Values of Notch3 and DLL4 in Human Breast Cancer.

: Notch signaling played a critical role in promoting breast tumorigenesis and progression. However, the role and prognostic value of Notch3 combined with DLL4 expression in breast carcinoma had not been explored. The retrospective study enrolled 90 breast cancer tissues and 60 noncancerous tissues from (conceal).

Generation of an induced pluripotent stem cell JTUi005-A from a patient with neuronal intranuclear inclusion disease.

Neuronal intranuclear inclusion disease is a neurodegenerative disease caused by expansion of GGC repeats in the 5' untranslated region (5' UTR) of NOTCH2NLC. An induced pluripotent stem cell (iPSC) line was generated from peripheral blood mononuclear cells of a 55-year-old male patient by expressing a defined set of reprogramming factors (OCT4, SOX2, NANOG, LIN28, c-MYC and KLF4) carried on episomal vectors, and was validated for stem cell-like pluripotency, normal karyotype and capability of in vivo differentiation into three germ layers. The NIID-iPSC line serves as a promising tool for further research into pathogenic mechanism and potential therapeutic targets.

Inter-User Distance Estimation Based on a New Type of Fingerprint in Massive MIMO System for COVID-19 Contact Detection.

In this paper, we address the challenging task of estimating the distance between different users in a Millimeter Wave (mmWave) massive Multiple-Input Multiple-Output (mMIMO) system. The conventional Time of Arrival (ToA) and Angle of Arrival (AoA) based methods need users under the Line-of-Sight (LoS) scenario. Under the Non-LoS (NLoS) scenario, the fingerprint-based method can extract the fingerprint that includes the location information of users from the channel state information (CSI).

DNA hypermethylation of NOTCH2NLC in neuronal intranuclear inclusion disease: a case-control study.

Background: GGC repeat expansions in NOTCH2NLC gene have been recently proposed to cause neuronal intranuclear inclusion disease (NIID) via prevailing gain-of-function mechanism (protein and RNA toxicity). Nevertheless, increasing evidences suggest that epigenetics can also play a role in the pathogenesis of repeat-mediated disorders.

Methods: In this study, using MethylTarget sequencing, we performed a quantitative analysis of the methylation status of 68 CpG sites located around the NOTCH2NLC promoter in 25 NIID patients and 25 age- and gender-matched healthy controls.

TMEM151A Variants Cause Paroxysmal Kinesigenic Dyskinesia: A Large-Sample Study.

Background: Paroxysmal kinesigenic dyskinesia (PKD) is the most common type of paroxysmal dyskinesias. Only one-third of PKD patients are attributed to proline-rich transmembrane protein 2 (PRRT2) mutations.

Objective: We aimed to explore the potential causative gene for PKD.

Diagnostic Value of VDR in Bone Metastasis and Prognosis of Patients with Breast Cancer and Expression Correlation between Vitamin D Receptor and Hairless Protein.

Background: Breast cancer is more likely to metastasize to the bone. Previous researches have revealed that the vitamin D receptor (VDR) contributes to breast cancer progression and bone metastasis in mouse and human breast cells, and hairless (Hr) protein interacts with VDR in the mammalian hair cycle. This study aimed to explore the expression of VDR/Hr in breast cancer, and the correlation between VDR/Hr and prognosis, bone metastasis, and metastasis-related prognosis.

Novel IBA57 mutations in two chinese patients and literature review of multiple mitochondrial dysfunction syndrome.

Multiple mitochondrial dysfunction syndrome (MMDS) refers to a class of mitochondrial diseases caused by nuclear gene mutations, which usually begins in early infancy and is classically characterized by markedly impaired neurological development, generalized muscle weakness, lactic acidosis, and hyperglycinemia, cavitating leukoencephalopathy, respiratory failure, as well as early fatality resulted from dysfunction of energy metabolism in multiple systems. So far, six types of MMDS have been identified based on different genotypes, which are caused by mutations in NFU1, BOLA3, IBA57, ISCA2, ISCA1 and PMPCB, respectively. IBA57 encodes a protein involved in the mitochondrial Fe/S cluster assembly process, which plays a vital role in the activity of multiple mitochondrial enzymes.

Invasive ductal carcinoma and small lymphocytic lymphoma/chronic lymphocytic leukemia manifesting as a collision breast tumor: A case report and literature review.

Collision breast tumors, consisting of breast cancer (BC) and non-Hodgkin's lymphoma (NHL), are extremely rare. Here we report the case of a 64-year-old woman with a collision tumor in her left breast mass that was composed of invasive ductal carcinoma and small lymphocytic lymphoma/chronic lymphocytic leukemia. In addition, we reviewed the published comparable English-language literature.

Variants in Causes Occipital Cortical Malformation.

Occipital cortical malformation (OCCM) is a disease caused by malformations of cortical development characterized by polymicrogyria and pachygyria of the occipital lobes and childhood-onset seizures. The recessive or complex heterozygous variants of the gene are identified as the cause of OCCM. In the present study, we identified novel complex heterozygous variants (c.

The Development of a New IFOG-Based 3C Rotational Seismometer.

For many years, seismological research mainly focuses on translational ground motions due to the lack of appropriate sensors. However, because of the development of devices based on Sagnac effect, measuring rotational waves directly comes available. In this work, a portable three-component broadband rotational seismometer named RotSensor3C based on open loop interferometric fiber optic gyroscope (IFOG) is designed and demonstrated.