Primary ciliary dyskinesia (PCD) is a clinically rare, genetically and phenotypically heterogeneous condition characterized by chronic respiratory tract infections, male infertility, tympanitis, and laterality abnormalities. PCD is typically resulted from variants in genes encoding assembly or structural proteins that are indispensable for the movement of motile cilia. Here, we identified a novel nonsense mutation, c.466G>T, in cilia- and flagella-associated protein 300 ( CFAP300 ) resulting in a stop codon (p.Glu156*) through whole-exome sequencing (WES). The proband had a PCD phenotype with laterality defects and immotile sperm flagella displaying a combined loss of the inner dynein arm (IDA) and outer dynein arm (ODA). Bioinformatic programs predicted that the mutation is deleterious. Successful pregnancy was achieved through intracytoplasmic sperm injection (ICSI). Our results expand the spectrum of CFAP300 variants in PCD and provide reproductive guidance for infertile couples suffering from PCD caused by them.
Adult ; Female ; Humans ; Male ; Pregnancy ; China ; Ciliary Motility Disorders/genetics* ; Codon, Nonsense ; East Asian People/genetics* ; Exome Sequencing ; Homozygote ; Infertility, Male/genetics* ; Kartagener Syndrome/genetics* ; Pedigree ; Sperm Injections, Intracytoplasmic ; Cytoskeletal Proteins/genetics*

Background Kurtosis reflecting noise's temporal structure is an effective metric for evaluating noise-induced hearing loss (NIHL), and its threshold is still unclear. Objective To explore the energy range of kurtosis and the threshold of NIHL induced by kurtosis in this energy rangeMethods Using cross-sectional design, 4631 noise-exposed workers in manufacturing industry were selected. The hearing loss and noise exposure data of each worker were collected. Logistic regression model was used to establish the dose-response relationship between noise exposure and hearing loss and estimate the range of energy effects. Restricted cubic spline model was utilized to analyze the dose-response relationship curves of kurtosis to noise-induced hearing loss (NIHI) and high-frequency noise-induced hearing loss (HFNIHL) under different 8 h equivalent sound levels (L_{EX,8 h}), as well as to estimate the kurtosis effect threshold. Results The logistic regression model analysis showed that the prevalence of NIHI and HFNIHL increased significantly with increase of L_{EX,8 h} for steady noise; when L_{EX,8 h} of non-steady noise was 80-100 dB(A), the risk of hearing loss increased with an increase in kurtosis (P<0.05). The restricted cubic spline model showed that when L_{EX,8 h} of non-steady noise was 0-80 dB(A) or >100 dB(A), there was no significant relationship between kurtosis and NIHI or HFNIHL. When L_{EX,8 h} was 80-100 dB(A), there was a significant nonlinear dose-response relationship between kurtosis and NIHL or HFNIHL (P <0.001), and kurtosis > 28.08 exerted effect in elevating NIHI or HFNIHL. Conclusion The effect threshold of kurtosis on NIHL is 28.08 when non-steady noise levels are in the range of 80-100 dB(A). The effect threshold of kurtosis needs further verification.

Background Temporal kurtosis (without frequency weighting, i.e., Z-weighted kurtosis) can evaluate noise-induced hearing loss (NIHL). However, few studies have considered the function of frequency weighting (A- or C-weighted) kurtosis on NIHL. Objective To study the significance of A- and C-weighted kurtosis adjustment for equivalent sound level (L'_{EX,8 h}) in evaluating occupational hearing loss. Methods A cross-sectional survey was used to select 973 noise-exposed workers in seven industries as the subjects. The noise exposure of all workers was assessed by distributions of A-, C-, and Z-weighted kurtosis (e.g., K_A, K_C, and K_Z) and respective adjusted equivalent sound level (e.g., L'_{EX,8 h}-K_A, L'_{EX,8 h}-K_C, and L'_{EX,8 h}-K_Z). The significance of A- and C-weighted kurtosis in evaluating NIHL was evaluated by correlations between three types of L'_{EX,8 h} and NIHL, and improvement of noise-induced permanent threshold shift (NIPTS) underestimation predicted by the ISO prediction model (Acoustics—Estimation of noise-induced hearing loss, ISO 1999-2013). Results The median K_A, K_C, and K_Z were 68.33, 28.22, and 19.82, respectively. The binary logistic regression showed that L_{EX, 8 h}-K_A, L_{EX, 8 h}-K_C, and L'_{EX, 8 h}-K_Z were risk factors for NIHL (OR>1, P<0.001). The receiver operating characteristic (ROC) curve showed that when the outcome variable was noise-induced hearing impairment (NIHI), the areas under the curves corresponding to L'_{EX,8 h}-K_A, L'_{EX,8 h}-K_C, and L'_{EX,8 h}-K_Z were 0.625, 0.628, and 0.625, respectively. When the outcome variable was high-frequency noise-induced hearing loss (HFNIHL), the areas under the curves corresponding to L'_{EX,8 h}-K_A, L'_{EX, 8 h}-K_C, and L'_{EX,8 h}-K_Z were 0.624, 0.623, and 0.622, respectively (P<0.05). The order of underestimation improvement values predicted by L'_{EX,8 h} for NIPTS₁₂₃₄ was: L'_{EX,8 h}-K_A (4.68 dB HL)>L'_{EX,8 h}-K_C (4.38 dB HL)>L'_{EX,8 h}-K_Z (4.28 dB HL) (P<0.001). The order of underestimation improvement values predicted by L'_{EX,8 h}-K for NIPTS₃₄₆ was: L'_{EX,8 h}-K_A (7.20 dB HL)>L'_{EX,8 h}-K_C (6.83 dB HL)>L'_{EX,8 h}-K_Z (6.71 dB HL) (P<0.001). Conclusion The adjustment of A- and C-weighted kurtosis to equivalent sound level L_{EX,8 h} can effectively improve the accuracy of the ISO 1999 prediction model in NIPTS prediction, and compared with the C-weighted, the A-weighted kurtosis can improve the result of the ISO 1999 prediction model in terms of underestimating NIPTS.

background Current assessment of noise-induced hearing loss relies on the hearing threshold statistical distribution table of ISO 7029-2017 standard (ISO 7029), which is based on foreign population data and lacks a hearing threshold distribution table derived from pure-tone audiometry data of the Chinese population, hindering accurate evaluation of hearing loss in this group. Objective To establish a statistical distribution table of hearing threshold level (HTL) for otologically normal Chinese adults and to provide a scientific basis for revising the diagnostic criteria of occupational noise-induced deafness in China. Methods A total of 1271 otologically normal Chinese adults aged 18-60 years were divided into four groups with 10-year age intervals. Based on the pure tone audiometry data and power function operation formula, the relevant parameters of the median and percentile calculation formula of ISO 7029 were adjusted. Based on the adjusted parameters, a statistical distribution table of HTL of normal Chinese adults in otology was preliminarily constructed according to the calculation formula of ISO 7029. A nonparametric rank sum test was used to compare the difference between the adjusted median deviation value and the ISO 7029 calculation. Results Except for a few frequencies (2000, 3000, and 8000 Hz), the value of parameter α adjusted for the auditory threshold deviation of the Chinese population (α_CHN-md) increased with the increase of frequency, while the value of parameter β adjusted for the auditory threshold deviation of the Chinese population (β_CHN-md) decreased with the increase of frequency. The preliminary distribution table of otologically normal Chinese adults' median hearing threshold deviation (ΔH_CHN-md) showed that the hearing threshold deviation increased with age and frequency. At 8000 Hz, the increase in ΔH_CHN-md with age was the greatest for both men and women, from 0 dB to 23 dB and 21 dB respectively. The minimal threshold elevation was noted at 500, 1000, and 2000 Hz, which increased from 0 dB to 2 dB. In otologically normal Chinese adults, the maximum increase of ΔH_CHN-md with frequency was observed at age of 50 years, which increased from 2 dB at 500 Hz to 23 dB at 8000 Hz in men and from 2 dB at 500 Hz to 21 dB at 8000 Hz in women. The comparison results with the ISO 7029 calculation showed that the trend was consistent. The median hearing threshold deviation value of the adjusted Chinese population was lower than that of the ISO 7029 calculation (ΔH_md). However, they had no significant statistical difference (P>0.05). For otologically normal normal Chinese men and women, the maximum difference of ΔH_md between the 50-year-old group and the ISO calculation at 8000 Hz was 7 dB and 9 dB, respectively. Conclusion This preliminary analysis of hearing threshold deviations in otologically normal Chinese adults suggests that current standards may potentially underestimate hearing loss at frequencies below 8000 Hz while possibly overestimating it at 8000 Hz. These findings require further validation through expanded sample sizes to more accurately assess the characteristics of hearing thresholds in the Chinese population and their discrepancies with existing standards.

OBJECTIVE: To explore clinical efficacy of tibial transverse transport (TTT) combined with debridement in treating necrotizing fasciitis of the lower extremities. METHODS: A retrospective analysis was conducted on 31 patients with necrotizing fasciitis of the lower extremities who were treated with TTT from January 2021 to October 2023, including 28 males and 3 females, aged from 44 to 76 years old with an average of (57.58±8.79) years old. In-hospital mortality rate, amputation rate, length of hospital stay, hospitalization cost, number of surgeries, and inflammatory indicators before and after operation (white blood cells, hemoglobin, C-reactive protein, albumin), as well as wound healing and daily living ability were observed and compared. RESULTS: All 31 patients were followed up for 3 to 12 months with an average of (6.61±2.46) months. All patients' wounds healed without recurrence. The wound healing time was (4.96±2.61) months, amputation rate of 31 patients was 3.22% (1/31), in-hospital mortality rate was 0%, the length of hospital stay was (27.10±24.51) days, the hospitalization cost was (107, 300 ± 83, 300) yuan, and the number of surgeries was (3.26±1.93) times. White blood cells, C-reactive protein and albumin before operation were (13.41±5.54) ×10⁹/L, (136.67±73.50) mg·L^-1 and (25.92±5.59) g·L^-11 respectively, and improved to (11.05±3.65) ×10⁹/L, (79.91±51.40) mg·L^-1, and (30.31±4.02) g·L^-1 at 2 weeks after operation, and the differences were statistically significant (P<0.05);there was no statistically significant difference in hemoglobin before and after operation (P>0.05). At the latest follow-up, 16 patients were able to take care of themselves, 12 patients were partially self-sufficient, and 3 patients were completely unable to take care of themselves. CONCLUSION TTT with debridement could achieve satisfactory clinical efficacy in treating necrotizing fasciitis of the lower extremities.
Humans ; Male ; Female ; Middle Aged ; Aged ; Adult ; Fasciitis, Necrotizing/mortality* ; Retrospective Studies ; Debridement ; Lower Extremity/surgery* ; Tibia/surgery*

BACKGROUND: The clinical impact of post-percutaneous coronary intervention (PCI) quantitative flow ratio (QFR) in patients treated with PCI for chronic total occlusion (CTO) was still undetermined. METHODS: All CTO vessels treated with successful anatomical PCI in patients from PANDA III trial were retrospectively measured for post-PCI QFR. The primary outcome was 2-year vessel-oriented composite endpoints (VOCEs, composite of target vessel-related cardiac death, target vessel-related myocardial infarction, and ischemia-driven target vessel revascularization). Receiver operator characteristic curve analysis was conducted to identify optimal cutoff value of post-PCI QFR for predicting the 2-year VOCEs, and all vessels were stratified by this optimal cutoff value. Cox proportional hazards models were employed to calculate the hazard ratio (HR) with 95% CI. RESULTS: Among 428 CTO vessels treated with PCI, 353 vessels (82.5%) were analyzable for post-PCI QFR. 31 VOCEs (8.7%) occurred at 2 years. Mean value of post-PCI QFR was 0.92 ± 0.13. Receiver operator characteristic curve analysis shown the optimal cutoff value of post-PCI QFR for predicting 2-year VOCEs was 0.91. The incidence of 2-year VOCEs in the vessel with post-PCI QFR < 0.91 (n = 91) was significantly higher compared with the vessels with post-PCI QFR ≥ 0.91 (n = 262) (22.0% vs. 4.2%, HR = 4.98, 95% CI: 2.32-10.70). CONCLUSIONS Higher post-PCI QFR values were associated with improved prognosis in the PCI practice for coronary CTO. Achieving functionally optimal PCI results (post-PCI QFR value ≥ 0.91) tends to get better prognosis for patients with CTO lesions.

One of the key components of adsorbents for blood purification is the microsphere adsorbent. Microsphere adsorbents should meet the following requirements: stable physical and chemical structures, easy for functional modification to endow the adsorbents with specific adsorption functions or characteristics, with good biocompatibility and with low non-specific adsorption, as well as with enough mechanical strength. Microsphere adsorbents prepared from polysaccharide bio-based materials fulfill the above requirements and have been widely used in the field of blood adsorption. In this article, adsorbents prepared from polysaccharide bio-based materials such as cellulose, agarose, alginate, as well as adsorbents prepared from the aforementioned materials and carbon materials and the application of the said bio-based adsorbents in blood adsorption is reviewed. The future development is also discussed, aiming to provide guidance and reference for the preparation, functional modification and application research of bio-based adsorbents for blood adsorption.
Microspheres ; Adsorption ; Humans

Bone grafting is a primary method for treating bone defects. Among various graft materials, xenogeneic bone substitutes are widely used in clinical practice due to their abundant sources, convenient processing and storage, and avoidance of secondary surgeries. With the advancement of domestic production and the limitations of imported products, an increasing number of bone filling or grafting substitute materials isentering clinical trials. Relevant experts have drafted this consensus to enhance the management of medical device clinical trials, protect the rights of participants, and ensure the scientific and effective execution of trials. It summarizes clinical experience in aspects, such as design principles, participant inclusion/exclusion criteria, observation periods, efficacy evaluation metrics, safety assessment indicators, and quality control, to provide guidance for professionals in the field.
Humans ; Bone Substitutes/therapeutic use* ; Randomized Controlled Trials as Topic/methods* ; Consensus ; Bone Transplantation ; Research Design

Objective The aim of the study is to reveal the polymorphisms of Eustrongylides spp.in Monopterus albus.Methods A total of five Eustrongylides spp.collected from five M.albus in the Yongzhou area were sampled to amplify ribosomal ITS sequence by PCR in vitro,then sequenced after extracting the DNA templates of Eustrongylides.The phylogenetic tree based on the ITS sequence was also constructed to explore the evolutionary history of Eustrongylides.Results The length of the ITS sequence of the five Eustrongylides spp.is approximately 933 bp,and the genetic differences between the isolates are 0.00％-0.90％and the genetic inheritance differences with other nematodes are 15.5％-18.20％,maintaining a certain genetic distance from other families.Conclusions The ITS sequence of Eustrongylides spp.in M.albus will be used as a genetic marker for the molecular identification of Eustrongylides spp.and will provide a basis for the prevention and control of Eustrongylides spp.in the future.

Objective: To investigate the status of occupational health examination institutions in Zhejiang Province, so as to provide suggestions for quality control of occupational health examination institutions. Methods: The 312 occupational health examination institutions in Zhejiang Province that have completed filing before September 30, 2023 were selected. The comprehensive capability, service quality, technical capability, and information reporting status were surveyed and evaluated through on-site inspection and skill assessment. Results: There were 161 public hospitals (51.60%), 147 private organizations (47.12%), and 4 centers for disease control and prevention (CDCs)/ occupational disease prevention and control institutes (1.28%). The pass rates of comprehensive capability, service quality, technical capability and information reporting were 90.02%, 69.89%, 84.07% and 86.78%, respectively. Among the indicators of comprehensive capability, the compliance rate for staffing was the highest at 95.06%, while the qualification rate of quality control in occupational health examinations was the lowest at 84.83%. Among the indicators of service quality, the compliance rate of the physical examination report format was the highest at 95.83%, while the accuracy rate of the audiometry examination was the lowest at 76.60%. In terms of technical capabilities, the qualification rates for blood lead testing, pneumoconiosis reading, and audiogram diagnostic ability were 87.92%, 89.42% and 75.34%, respectively. In terms of information reporting, the qualification rates for reporting completeness, reporting timeliness, suspected occupational disease reporting timeliness, and reporting accuracy were 89.10%, 81.09%, 96.47% and 80.45%, respectively. Among the three types of institutions, private institutions had the lowest average qualification rates for comprehensive capability, service quality, and technical capability, which were 89.83%, 69.06% and 80.00%, respectively. Conclusions Public hospitals and private organizations were the main types of occupational health examination institutions in Zhejiang Province. However, there were deficiencies in quality control, audiogram examination and diagnosis, and the accuracy of information reporting among occupational health examination institutions.