Background: Hearing loss (HL) is one of the most common sensory disorders, affecting over 5-8% of the world's population. Approximately half of HL cases are attributed to genetic factors. In hereditary deafness, about 75-80% is inherited through autosomal recessive inheritance, and common pathogenic genes include GJB2 and SLC26A4. Pathogenic variants in the SLC26A4gene are the leading cause of hereditary hearing loss in humans, second only to the GJB2 gene. Variants in the SLC26A4gene cause hearing loss, which can be non-syndromic autosomal recessive deafness (DFNB4, OMIM #600791) associated with enlarged vestibular aqueduct (EVA) or Pendred syndrome (Pendred, OMIM #605646). DFNB4 is characterized by sensorineural hearing loss combined with EVA or less common cochlear malformation defect. Pendred syndrome is characterized by bilateral sensorineural hearing loss with EVA and an iodine defect that can lead to thyroid goiter. Currently, it is known that EVA is associated with variants in the SLC26A4 gene and is a penetrant feature of SLC26A4-related HL. Predominant mutations in these genes differ significantly across populations. For instance, predominant SLC26A4 mutations differ among populations, including p.T416P and c.1001G>A in Caucasians, p.H723R in Japanese and Koreans, and c.919-2A>G in Han Taiwanese and Han Chinese. On the other hand, there has been no study of hearing loss related to SLC26A4 gene variants among Mongolians, which is the basis of our research. Aim: We aimed to identify the characteristics of the SLC26A4 gene variants in Mongolian people with Enlarged vestibular aqueduct and Mondini malformation. Materials and Methods: In 2022-2024, We included 13 people with hearing loss and enlarged vestibular aqueduct, incomplete cochlea (1.5 turns of the cochlea with cystic apex- incomplete partition type II- Mondini malformation) were examined by CT scan of the temporal bone in our study. WES (Whole exome sequencing) analysis was performed in the Genetics genetic-laboratory of the National Taiwan University Hospital. Results: Genetic analysis revealed 26 confirmed pathogenic variants of bi-allelic SLC26A4 gene of 8 different types in 13 cases, and c.919-2A>G variant was dominant with 46% (12/26) in allele frequency, and c.2027T>A (p.L676Q) variant 19% (5/26), c.1318A>T(p.K440X) variant 11% (3/26), c.1229C>T (p.T410M) variant 8% (2/26) ) , c.716T>A (p.V239D), c.281C>T (p.T94I), c.1546dupC, and c.1975G>C (p.V659L) variants were each 4% (1/26)- revealed. Two male children, 11 years old (SLC26A4: c.919-2A>G) and 7 years old (SLC26A4: c.919-2A>G:, SLC26A4: c.2027T>A (p.L676Q))had history of born normal hearing and progressive hearing loss. Conclusions 1. 26 variants of bi-allelic SLC26A4 gene mutation were detected in Mongolian people with EVA and Mondini malformation, and c.919-2A>G was the most dominant allele variant, and rare variants such as c.1546dupC, c.716T>A (p.V239D) were detected. 2. Our study shows that whole-exome sequencing (WES) can identify gene mutations that are not detected by polymerase chain reaction (PCR) or NGS analysis.

Cochlear hair cells convert sound into electrical signals that are relayed via the spiral ganglion neurons to the central auditory pathway. Hair cells are vulnerable to damage caused by excessive noise, aging, and ototoxic agents. Non-mammals can regenerate lost hair cells by mitotic regeneration and direct transdifferentiation of surrounding supporting cells. However, in mature mammals, damaged hair cells are not replaced, resulting in permanent hearing loss. Recent studies have uncovered mechanisms by which sensory organs in non-mammals and the neonatal mammalian cochlea regenerate hair cells, and outlined possible mechanisms why this ability declines rapidly with age in mammals. Here, we review similarities and differences between avian, zebrafish, and mammalian hair cell regeneration. Moreover, we discuss advances and limitations of hair cell regeneration in the mature cochlea and their potential applications to human hearing loss.

Animals ; Mice ; Colon ; Histological Techniques

OBJECTIVE: To investigate the prevalence of comorbid depression and anxiety and to evaluate the effect of psychological interventions among schistosomiasis patients in China, so as to provide insights into improvements of psychological health among schistosomiasis patients. METHODS: Publications pertaining to comorbid depression and anxiety and psychological interventions among Chinese schistosomiasis patients were retrieved in electronic databases, including CNKI, Wanfang Data, PubMed, Web of Science, and Embase. The prevalence of comorbidity, psychological interventions, and scores for the Self-Rating Depression Scale (SDS) and Self-Rating Anxiety Scale (SAS) before and after psychological interventions among Chinese schistosomiasis patients were extracted. The prevalence of comorbid depression and anxiety was investigated among Chinese schistosomiasis patients using a meta-analysis, and the effect of psychological interventions for depression and anxiety was evaluated. RESULTS: A total of 231 publications were retrieved, and 14 publications that met the inclusion and exclusion criteria were included in the final analysis, including 2 English publications and 12 Chinese publications. Meta-analysis showed that the prevalence rates of comorbid depression and anxiety were 61% [95% confidential interval (CI): (48%, 72%)] and 64% [95% CI: (42%, 81%)] among Chinese schistosomiasis patients. Both the SDS [1.45 points, 95% CI: (1.30, 1.60) points] and SAS scores [2.21 points, 95% CI: (2.05, 2.38) points] reduced among Chinese schistosomiasis patients after psychological interventions than before psychological interventions, and the SDS [-0.47 points, 95% CI: (-6.90, -0.25) points] and SAS scores [-1.30 points, 95% CI: (-1.52, -1.09) points] reduced among Chinese schistosomiasis patients in the case group than in the control group. CONCLUSIONS The comorbid anxiety and depression are common among Chinese schistosomiasis patients, and conventional psychological interventions facilitate the improvements of anxiety and depression among schistosomiasis patients.
Humans ; Depression/therapy* ; Psychosocial Intervention ; Prevalence ; Anxiety/therapy* ; Comorbidity ; Schistosomiasis/therapy*

Purpose: Patients with cancer are particularly vulnerable to coronavirus disease (COVID). Transportation barriers made travel to obtain medical care more difficult during the pandemic. Whether these factors led to changes in the distance traveled for radiotherapy and the coordinated location of radiation treatment is unknown. Materials and Methods: We analyzed patients across 60 cancer sites in the National Cancer Database from 2018 to 2020. Demographic and clinical variables were analyzed for changes in distance traveled for radiotherapy. We designated the facilities in the 99th percentile or above in terms of the proportion of patients who traveled more than 200 miles as “destination facilities.” We defined “coordinated care” as undergoing radiotherapy at the same facility where the cancer was diagnosed. Results: We evaluated 1,151,954 patients. There was a greater than 1% decrease in the proportion of patients treated in the Mid-Atlantic States. Mean distance traveled from place of residence to radiation treatment decreased from 28.6 to 25.9 miles, and the proportion traveling greater than 50 miles decreased from 7.7% to 7.1%. At “destination facilities,” the proportion traveling more than 200 miles decreased from 29.3% in 2018 to 24% in 2020. In comparison, at the other hospitals, the proportion traveling more than 200 miles decreased from 1.07% to 0.97%. In 2020, residing in a rural area resulted in a lower odds of having coordinated care (multivariable odds ratio = 0.89; 95% confidence interval, 0.83–0.95). Conclusion The first year of the COVID pandemic measurably impacted the location of U.S. radiation therapy treatment.

Dysregulation of histone deacetylases (HDACs) is closely related to tumor development and progression. As promising anticancer targets, HDACs have gained a great deal of research interests and two decades of effort has led to the approval of five HDAC inhibitors (HDACis). However, currently traditional HDACis, although effective in approved indications, exhibit severe off-target toxicities and low sensitivities against solid tumors, which have urged the development of next-generation of HDACi. This review investigates the biological functions of HDACs, the roles of HDACs in oncogenesis, the structural features of different HDAC isoforms, isoform-selective inhibitors, combination therapies, multitarget agents and HDAC PROTACs. We hope these data could inspire readers with new ideas to develop novel HDACi with good isoform selectivity, efficient anticancer effect, attenuated adverse effect and reduced drug resistance.

Purpose: The aim of this study was to characterize the cone-beam computed tomographic (CBCT) imaging features of central giant cell granuloma (CGCG) of the jawbone. Materials and Methods: This study retrospectively reviewed 26 CBCT studies of histologically proven cases of CGCG during a period of 20 years, from 1999 to 2019. Patients’ demographic data were recorded, and radiographic features were assessed (location, border, cortication, appearance of the internal structure, locularity, septation, expansion, cortical perforation, effects on surrounding tissue, whether the lesion crossed the midline, and lesion volume). Results: In this study, CGCGs were seen almost twice as often in the mandible than in the maxilla, and 64.7% of mandibular lesions involved the anterior region. Only 26.9% of lesions crossed the midline, a feature that was considered characteristic of CGCG. Furthermore, 65.4% of lesions were unilocular and 34.6% were multilocular. The correlation between a lesion’s size and its locularity was statistically significant, and larger lesions showed a multilocular appearance. The mean volume of multilocular lesions was greater than that of unilocular lesions. Conclusion CGCGs showed variable radiographic features on CBCT, and this imaging modality is highly effective at demonstrating the radiographic spectrum and lesional extent of CGCGs in the jawbone.

The fall armyworm (FAW), Spodoptera frugiperda, is a destructive pest native to America and has recently become an invasive insect pest in China. Because of its rapid spread and great risks in China, understanding of FAW genetic background and pesticide resistance is urgent and essential to develop effective management strategies. Here, we assembled a chromosome-level genome of a male FAW (SFynMstLFR) and compared re-sequencing results of the populations from America, Africa, and China. Strain identification of 163 individuals collected from America, Africa and China showed that both C and R strains were found in the American populations, while only C strain was found in the Chinese and African populations. Moreover, population genomics analysis showed that populations from Africa and China have close relationship with significantly genetic differentiation from American populations. Taken together, FAWs invaded into China were most likely originated from Africa. Comparative genomics analysis displayed that the cytochrome p450 gene family is extremely expanded to 425 members in FAW, of which 283 genes are specific to FAW. Treatments of Chinese populations with twenty-three pesticides showed the variant patterns of transcriptome profiles, and several detoxification genes such as AOX, UGT and GST specially responded to the pesticides. These findings will be useful in developing effective strategies for management of FAW in China and other invaded areas.
Animals ; China ; Genomics ; Humans ; Male ; Pesticides ; Spodoptera/genetics* ; Transcriptome

Introduction: Psoriasis affects approximately 2–3% of the population worldwide, although the overall prevalence in Asia is <0.5%. Scalp psoriasis is a common initial presentation of psoriasis, which affects almost 80% of patients with psoriasis. Methods: This retrospective descriptive study investigated 1,671 patients with psoriasis with scalp involvement registered with the Malaysian Psoriasis Registry (MPR) from January 2007 to December 2018. Results: A total of 21,859 patients with psoriasis were registered with the MPR during the study period; among them, scalp involvement was seen in 7.6% (n=1,671). Female sex preponderance (61%) was observed in the majority of Malay patients (58.5%), followed by the Chinese (16.9%), Indian (17.1%) and other ethnic patients (7.5%). A positive family history of psoriasis was identified in 22.7% (n=380). Approximately 34.8% (n=581) and 11% (n=172) of the patients had nail changes and psoriatic arthropathy, respectively. The mainstay treatment modality was topical treatment (93.6%), followed by systemic therapy (10%) and phototherapy (0.5%). The comorbidities found among the patients with scalp psoriasis included hypertension (27.9%), obesity (26%), dyslipidaemia (21%), diabetes mellitus (18.4%), ischaemic heart disease (5.4%) and cerebrovascular disease (1.3%). Approximately 23% reported a Dermatology Life Quality Index (DLQI) of >10, which indicated moderate-to-severe impairment. Conclusion The proportion of patients with psoriasis with scalp involvement in our study (7.6%) is much lower than previous reports. Scalp psoriasis markedly negatively impacts the DLQI.
Malaysia ; Psoriasis