Inherited Spinocerebellar Ataxia Segregates with Intra-Familial Genetic Heterogeneity in a Consanguineous Pakistani Family: A Report of a Potential Novel Candidate Gene.

Hereditary spinocerebellar ataxia (SCA) is a group of genetic neurodegenerative disorders caused by a variety of gene variants. At least 44 types of SCAs have been identified to date, and more than 35 genes and hundreds of variants have been reported that are associated with SCAs. We have investigated a Pakistani consanguineous six-generation family with SCA by using whole-exome sequencing analysis.

A Novel PTPRQ c.3697del Variant Causes Autosomal Dominant Progressive Hearing Loss in Both Humans and Mice.

PTPRQ plays an important role in the development of inner ear hair cell stereocilia. While many autosomal recessive variants in PTPRQ have been identified as the pathogenic cause for nonsyndromic hearing loss (DFNB84A), so far only one autosomal dominant PTPRQ variant, c.6881G>A (p.

Mangiferin alleviates cisplatin-induced ototoxicity in sensorineural hearing loss.

Mangiferin(MGF) exhibits crucial biological roles, including antioxidant and anti-inflammatory functions. However, how to clearly elucidate the functioning mechanism of MGF for inhibiting cisplatin-induced hearing loss requires in-depth investigation. In this work, we aimed at gaining insight into how MGF functions as the protective agent against cisplatin-triggered ototoxicity using various assays.

Ginsenosides: an immunomodulator for the treatment of colorectal cancer.

Ginsenosides, the primary bioactive ingredients derived from the root of Panax ginseng, are eagerly in demand for tumor patients as a complementary and alternative drug. Ginsenosides have increasingly become a "hot topic" in recent years due to their multifunctional role in treating colorectal cancer (CRC) and regulating tumor microenvironment (TME). Emerging experimental research on ginsenosides in the treatment and immune regulation of CRC has been published, while no review sums up its specific role in the CRC microenvironment.

Topic Modeling Analysis of Chinese Medicine Literature on Gastroesophageal Reflux Disease: Insights into Potential Treatment.

Objective: To analyze Chinese medicine (CM) prescriptions for gastroesophageal reflux disease (GERD), we model topics on GERD-related classical CM literature, providing insights into the potential treatment.

Methods: Clinical guidelines were used to identify symptom terms for GERD, and CM literature from the database "Imedbooks" was retrieved for related prescriptions and their corresponding sources, indications, and other information. BERTopic was applied to identify the main topics and visualize the data.

Identification of necroptosis-related genes in Parkinson's disease by integrated bioinformatics analysis and experimental validation.

Background: Parkinson's disease (PD) is the second most common neurodegeneration disease worldwide. Necroptosis, which is a new form of programmed cell death with high relationship with inflammation, plays a vital role in the progression of PD. However, the key necroptosis related genes in PD are not fully elucidated.

Clinical predictors and RT-PCR profile of prolonged viral shedding in patients with SARS-CoV-2 Omicron variant in Shanghai: A retrospective observational study.

Objective: To evaluate determinants of prolonged viral RNA shedding in hospitalized patients with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) Omicron variant infection.

Materials And Methods: Hospitalized patients tested SARS-CoV-2 positive by nasopharyngeal real-time reverse transcriptase-polymerase chain reaction (RT-PCR) were included in the single-center, retrospective study. Patients were divided into 2 groups according to the timing of viral clearance (≤ 8 days, "early clearance" and ≥15 days, "late clearance").

SESLA suppresses the activation of macrophages and dendritic cells after Gram-positive bacterial challenge.

Background: Secoeudesma sesquiterpenes lactone A (SESLA) is a sesquiterpene derived from Thunb. and is known to possess many pharmacological properties, e.g.

Dezocine induces apoptosis in human cervical carcinoma Hela cells via the endoplasmic reticulum stress pathway.

Dezocine, a dual agonist and antagonist of the μ-opioid receptor and κ-opioid receptor, is widely used as an analgesic in China. At present, there are few studies on anti-tumor effects of dezocine, most of which are used to treat cancer pain. However, it has recently been reported that dezocine can induce apoptosis of triple negative breast cancer cells.

A panel of three serum microRNA can be used as potential diagnostic biomarkers for nasopharyngeal carcinoma.

Background: Nasopharyngeal carcinoma is cancer with unique epidemiological characteristics, showing obvious ethnicity, gender, and geographical prevalence. More and more evidence shows that microRNAs are stable in serum and are specific to different tumor types. Therefore, miRNA is a new non-invasive biomarker for cancer detection.

Cordycepin inhibits the proliferation and progression of NPC by targeting the MAPK/ERK and β-catenin pathways.

Cordycepin is an extract from the genus of ascomycete fungi. In the present study, the anticancer potential of cordycepin against nasopharyngeal carcinoma (NPC), and the potential underlying mechanisms, were investigated. Using Cell Counting Kit 8, wound-healing and Transwell assays, cordycepin was found to reduce the viability and inhibit the migration of C666-1 cells in a dose-dependent manner.

Protective effect of dexmedetomidine in cecal ligation perforation-induced acute lung injury through HMGB1/RAGE pathway regulation and pyroptosis activation.

Dexmedetomidine (DEX) has been reported to attenuate cecal ligation perforation (CLP)-stimulated acute lung injury (ALI) by downregulating and . This study aimed to further investigate the specific mechanisms of and its potential-related mechanisms of DEX on ALI models and . The and ALI models were established by lipopolysaccharide treatment in MLE-12 cells and CLP in mice, respectively.

Src-1 and SP2 promote the proliferation and epithelial-mesenchymal transition of nasopharyngeal carcinoma.

Nasopharyngeal carcinoma (NPC) is characterized by high morbidity and morality, especially in Southern China. Transcription factors intensively participate in the initiation and development of NPC. This study aimed to investigate the roles of Src-1 in NPC.

Next-Generation Sequencing Identifies Pathogenic Variants in , , , and in Consanguineous Pakistani Deaf Families.

Background: Approximately 70% of congenital deafness is attributable to genetic causes. Incidence of congenital deafness is known to be higher in families with consanguineous marriage. In this study, we investigated the genetic causes in three consanguineous Pakistani families segregating with prelingual, severe-to-profound deafness.

Chronic atrophic gastritis and intestinal metaplasia induced by high-salt and N-methyl-N'-nitro-N-nitrosoguanidine intake in rats.

The aim of the present study was to induce chronic atrophic gastritis (CAG) with intestinal metaplasia (IM) in rats by administering saturated salt and methyl-N'-nitro-N-nitrosoguanidine (MNNG) via oral gavage. Changes in gastric mucosal blood microcirculation and activation of the cyclo-oxygenase-2 (COX-2)/hypoxia inducible factor-1α (HIF-1α)/vascular endothelial growth factor (VEGF) signaling pathway during CAG and IM development were investigated. After administering saturated salt and MNNG for 25 weeks, mild atrophy was detected in the stomach of model rats using hematoxylin and eosin staining.

Transcriptomic Analyses Reveal Gene Expression Profiles and Networks in Nasopharyngeal Carcinoma.

Background: Nasopharyngeal carcinoma (NPC) is a rare but highly aggressive tumor that is predominantly encountered in Southeast Asia and China in particular. Aside from radiotherapy, no effective therapy that specifically treats NPC is available, including targeted drugs. Finding more sensitive biomarkers is important for new drug discovery and for evaluating patient prognosis.

Risk factors and survival outcomes of laryngeal squamous cell carcinoma patients with lung metastasis: A population-based study.

Objective: It remains elusive which factors may influence the morbidity and mortality of lung metastasis (LM) in Laryngeal Squamous Cell Carcinoma (LSCC) patients. The aim of the present study was to investigate factors influencing LM and the survival outcomes of LSCC patients with LM.

Methods: We identified 10,935 patients with LSCC from 2010 to 2014 using the Surveillance, Epidemiology and End Results database.

Piston error correction of sparse aperture systems using the metaheuristic stochastic parallel gradient descent algorithm.

The next generation of optical telescopes will provide high-resolution imaging of celestial objects by using the aperture synthesis technique. To preserve the quality of the image, fast corrections of the pistons among subapertures have to be applied, namely, the co-phasing of the array. The image-based co-phasing method via an optimization procedure has been newly developed.

Therapeutic potential of targeting MKK3-p38 axis with Capsaicin for Nasopharyngeal Carcinoma.

Capsaicin is an active compound found in plants of the genus; it has a range of therapeutic benefits, including anti-tumor effects. Here we aimed to delineate the inhibitory effects of capsaicin on nasopharyngeal carcinoma (NPC). The anti-cancer effects of capsaicin were confirmed in NPC cell lines and xenograft mouse models, using CCK-8, clonogenic, wound-healing, transwell migration and invasion assays.

Key miRNAs associated with memory and learning disorder upon exposure to sevoflurane determined by RNA sequencing.

The study aimed to identify differentially expressed microRNAs (miRNAs/miRs) and explore the mechanisms governing impaired memory and learning ability in developing brains exposed to sevoflurane. A total of six 7‑day‑old male ICR mice were randomly assigned into the sevoflurane anesthesia group (treated with 2.4% sevoflurane) or control group (treated with normal saline solution at the same dose).

Wide-band high-resolution synthetic imaging of a segmented large-scaled lightweight diffractive telescope.

In this Letter, we report a segmented large-scaled lightweight diffractive telescope testbed newly built in our laboratory. The telescope, consisting of one 710-mm-diameter element in the center surrounded by eight 352-mm-diameter elements and a smaller eyepiece of achromatic lenses, can realize wide-band high-resolution imaging of 0.55-0.

The prevalence and clinical characteristics of vestibular schwannoma among patients treated as sudden sensorineural hearing loss: A 10-year retrospective study in southern China.

Purpose: To review the prevalence and clinical characteristics of vestibular schwannoma (VS) in patients with sudden sensorineural hearing loss (SSNHL) in southern China.

Materials And Methods: This study examined the medical records and MRI findings of all the 1249 patients diagnosed with SSNHL between May 2009 and April 2019 in the Division of Otolaryngology at Peking University Shenzhen Hospital.

Results: Among the 1249 patients with SSNHL, VS was found in 14 (1.

Intratympanic versus intravenous corticosteroid treatment for sudden sensorineural hearing loss in diabetic patients: proposed study protocol for a prospective, randomized superiority trial.

Background: Diabetes mellitus is associated with risk of sudden sensorineural hearing loss (SSNHL). Systemic and intratympanic corticosteroids are the two primary treatments for SSNHL in patients with diabetes mellitus. The benefit of intratympanic compared to systemic treatment is the reduced systemic steroid exposure and associated systemic adverse effects.