Genomic and phenotypic landscapes of X-linked hereditary hearing loss in the Chinese population.

Background: Hearing loss (HL) is the most common sensory birth deficit worldwide, with causative variants in more than 150 genes. However, the etiological contribution and clinical manifestations of X-linked inheritance in HL remain unclear within the Chinese HL population. In this study, we focused on X-linked hereditary HL and aimed to assess its contribution to hereditary HL and identify the genotype-phenotype relationship.

Variability of the Indian Ocean Dipole post-2100 reverses to a reduction despite persistent global warming.

Previous examination of the Indian Ocean Dipole (IOD) response to greenhouse warming shows increased variability in the eastern pole but decreased variability in the western pole before 2100. The opposing response is due to a shallowing equatorial thermocline promoting sea surface temperature (SST) variability in the east, but a more stable atmosphere decreasing variability in equatorial zonal winds that weakens SST variability in the west. Post-2100, how the IOD may change remains unknown.

Clinical Application of the 4K-3D Exoscope System in Cochlear Implantation.

Purpose: To evaluate a system for otomicrosurgery based on 4K three-dimensional (3D) exoscope technology and apply it to cochlear implantation.

Methods: An open stereoscopic vision-based surgical system, which differs from traditional surgical microscopes, was created by utilizing 4K stereo imaging technology and combining it with low-latency 4K ultra-high-definition 3D display. The system underwent evaluation based on 57 cochlear implantation operations, three designed microscopic manipulations, and a questionnaire survey.

3D skin bioprinting as promising therapeutic strategy for radiation-associated skin injuries.

Both cutaneous radiation injury and radiation combined injury (RCI) could have serious skin traumas, which are collectively referred to as radiation-associated skin injuries in this paper. These two types of skin injuries require special managements of wounds, and the therapeutic effects still need to be further improved. Cutaneous radiation injuries are common in both radiotherapy patients and victims of radioactive source accidents, which could lead to skin necrosis and ulcers in serious conditions.

MPZL2-a common autosomal recessive deafness gene related to moderate sensorineural hearing loss in the Chinese population.

Background: Mutations in MPZL2, the characteristic genetic etiology of autosomal recessive deafness loci 111 (DFNB111), cause non-syndromic and moderate sensorineural hearing loss.

Methods: In this study, we analyzed the phenotype and genotype of eight pedigrees consisting of 10 hearing loss patients with bi-allelic pathogenic or likely pathogenic variants in MPZL2. These patients were identified from a 3272 Chinese patient cohort who underwent genetic testing.

Exploration of a Novel Noninvasive Prenatal Testing Approach for Monogenic Disorders Based on Fetal Nucleated Red Blood Cells.

Background: Due to technical issues related to cell-specific capture methods, amplification, and sequencing, noninvasive prenatal testing (NIPT) based on fetal nucleated red blood cells (fNRBCs) has rarely been used for the detection of monogenic disorders.

Methods: Maternal peripheral blood was collected from 11 families with hereditary hearing loss. After density gradient centrifugation and cellular immunostaining for multiple biomarkers, candidate individual fetal cells were harvested by micromanipulation and amplified by whole-genome amplification (WGA).

Quantitative assessment of low-level parental mosaicism of SNVs and CNVs in Waardenburg syndrome.

Waardenburg syndrome (WS) is a rare inherited autosomal dominant disorder caused by SOX10, PAX3, MITF, EDNRB, EDN3, and SNAI2. A large burden of pathogenic de novo variants is present in patients with WS, which may be derived from parental mosaicism. Previously, we retrospectively analyzed 90 WS probands with family information.

Addition of an affected family member to a previously ascertained autosomal recessive nonsyndromic hearing loss pedigree and systematic phenotype-genotype analysis of splice-site variants in MYO15A.

Pathogenic variants in MYO15A are known to cause autosomal recessive nonsyndromic hearing loss (ARNSHL), DFNB3. We have previously reported on one ARNSHL family including two affected siblings and identified MYO15A c.5964+3G > A and c.

Emergence of changing Central-Pacific and Eastern-Pacific El Niño-Southern Oscillation in a warming climate.

El Niño-Southern Oscillation (ENSO) features strong warm events in the eastern equatorial Pacific (EP), or mild warm and strong cold events in the central Pacific (CP), with distinct impacts on global climates. Under transient greenhouse warming, models project increased sea surface temperature (SST) variability of both ENSO regimes, but the timing of emergence out of internal variability remains unknown for either regime. Here we find increased EP-ENSO SST variability emerging by around 2030 ± 6, more than a decade earlier than that of CP-ENSO, and approximately four decades earlier than that previously suggested without separating the two regimes.

Influence of ion beam surface treatment on the emission performance of photocathodes.

Photocathodes are mainly used in such hi-tech fields as photoelectric conversion devices, radiation detection, and accelerators. Laser-driven photocathodes are characterized by low emission, high brightness, easy control, rapid response, , and are hopeful to become satisfactory electron sources for next-generation high-frequency miniaturized electric vacuum microwave devices, to effectively improve the performance and rapid response capability of the devices. For this reason, based on previous research efforts on photocathodes, we proposed an idea that ion beam surface treatment technology was used to modify the substrate surface of photocathodes and make the surface textured, enhancing the light absorptivity and alkali metal adsorption performance of photocathodes, so as to improve their emission performance.

Imaging features, staging system, and surgical management of giant cell lesions of the temporal bone.

Background: Giant cell tumors (GCTs) and giant cell granulomas (GCGs) are giant cell-rich lesions that occur extremely rarely in the temporal bone and have similar clinical presentations.

Objectives: We aimed to analyze the clinical features and introduce our staging system and surgical treatment.

Methods: Forty-six patients pathologically diagnosed with a giant cell lesion involving the temporal bone between October 2001 and October 2020 were reviewed retrospectively.

Establishment of an iPSC line (CPGHi005-A) from a patient with Waardenburg syndrome carrying a heterozygous SVA-F retrotransposon insertion into SOX10.

Mutations of SOX10 result in Waardenburg syndrome characterized by sensorineural hearing loss and pigmentary abnormalities, which can be found in association with a defect of migrating neural crest cells. The role of SINE-VNTR-Alu (SVA) retrotransposon insertions in disorders has only been minimally explored and there have been no reports of WS cases related to SVA retrotransposons. Here, we report the successful establishment and characterization of an iPSC line from a patient diagnosed with Waardenburg syndrome carrying an insertion of SVA in intron 2 of SOX10.

Increased variability of the western Pacific subtropical high under greenhouse warming.

SignificanceThe western Pacific subtropical high (WPSH) channels moisture from the tropics that underpins the East Asian summer climate. Interannual variability of the WPSH dominates climate extremes in the densely populated countries of East Asia. In 2020, an anomalously strong WPSH led to catastrophic floods with hundreds of deaths, 28,000 homes destroyed, and tens of billions in economic damage in China alone.

Clinical and molecular findings in a Chinese family with a de novo mitochondrial A1555G mutation.

Background: The mitochondrial 12S rRNA A1555G mutation is the most prevalent deafness-causing mitochondrial DNA (mtDNA) mutation and is inherited maternally. Studies have suggested that A1555G mutations have multiple origins, although there is no direct evidence of this. Here, we identified a family with a de novo A1555G mutation.

Analysis of the genotype-phenotype correlation of MYO15A variants in Chinese non-syndromic hearing loss patients.

Background: Mutations in the MYO15A gene are a widely recognized cause of autosomal recessive non-syndromic sensorineural hearing loss (NSHL) globally. Here, we examined the role and the genotype-phenotype correlation of MYO15A variants in a cohort of Chinese NSHL cases.

Methods: Eighty-one cases with evidenced MYO15A variants from the 2263 Chinese NSHL cases, who underwent next-generation sequencing (NGS), were enrolled in the study.

Transcriptome analysis of the early stage ifnlr1-mutant zebrafish indicates the immune response to auditory dysfunction.

Background: IFNLR1 has been recently identified to be related to autosomal dominant nonsyndromic sensorineural hearing loss (ADNSHL). It is reported to be expressed in the inner ear of mice and the lateral line of zebrafish. However, it remains unclear how defects in this gene lead to hearing loss.

Decadal climate variability in the tropical Pacific: Characteristics, causes, predictability, and prospects.

Climate variability in the tropical Pacific affects global climate on a wide range of time scales. On interannual time scales, the tropical Pacific is home to the El Niño–Southern Oscillation (ENSO). Decadal variations and changes in the tropical Pacific, referred to here collectively as tropical Pacific decadal variability (TPDV), also profoundly affect the climate system.

Sequential Bilateral Cochlear Implantation in a Child with Severe External, Middle, and Inner Ear Malformations: Surgical Considerations and Practical Aspects.

Cochlear implantation (CI) is a safe and beneficial surgery for children with congenital inner ear malformations, with the exception of cochlear nerve aplasia. The combination of microtia with middle and inner ear abnormalities is extremely uncommon and sufficiently severe to make a surgical approach to the cochlea difficult. We report herein the case of a 2-year-old girl who presented with profound bilateral sensorineural hearing loss, congenital aural atresia, microtia, and inner ear malformations.

Efficacy and safety of acupuncture for senile insomnia: A protocol for systematic review and meta-analysis.

Background: Senile insomnia seriously affects the quality of life of the elderly. With the increase of the proportion of insomnia in the elderly, compared with the elderly with normal sleep quality, the elderly with long-term insomnia are more likely to have dizziness, fatigue, and decreased immunity. Acupuncture has shown good effects in the treatment of insomnia.

Analysis of genotype-phenotype relationships in 90 Chinese probands with Waardenburg syndrome.

Waardenburg syndrome (WS) is a phenotypically and genetically heterogeneous disorder characterised by hearing loss and pigmentary abnormalities. We clarified the clinical and genetic features in 90 Chinese WS probands. Disease-causing variants were detected in 55 probands, for a molecular diagnosis rate of 61%, including cases related to PAX3 (14.

Neutrophils-derived Spink7 as one safeguard against experimental murine colitis.

The uncontrolled abnormal intestinal immune responses play important role in eliciting inflammatory bowel disease (IBD), yet the molecular events regulating intestinal inflammation during IBD remain poorly understood. Here, we describe an endogenous, homeostatic pattern that controls inflammatory responses in experimental murine colitis. We show that Spink7 (serine peptidase inhibitor, kazal type 7), the ortholog of human SPINK7, is significantly upregulated in dextran sodium sulfate (DSS)-induced murine colitis model.

MicroRNA-34a deficiency leads to impaired wound closure by augmented inflammation in mice.

Background: Proper inflammation resolution is critical for cutaneous wound healing and disordered inflammation resolution results in chronic nonhealing wounds. However, the cellular and molecular mechanisms for resolution of inflammation during skin wound healing are not well understood. MicroRNA-34a is regarded as one tumor suppressor with complexed immune regulatory effects, yet its role during skin wound repair is still unclear.