OBJECTIVE: To explore the genetic etiology of a Chinese pedigree affected with Primary ciliary dyskinesia (PCD). METHODS: A child who presented at the ENT Department of Zhengzhou University Children's Hospital in March 2024 due to secretory otitis media, chronic sinusitis, adenoid hypertrophy, dextrocardia, and bronchiectasis was selected as study subject. Relevant clinical data were collected. Peripheral blood samples from the child and her family members were collected. Following DNA extraction, whole exome sequencing was carried out. Candidate variants were validated by Sanger sequencing, and the correlation between the variants and phenotype was analyzed. This study was approved by the Medical Ethics Committee of the Hospital (Ethics No.: 2024-K-135). RESULTS: The child and her elder siblings exhibited similar clinical manifestations including recurrent cough, secretory otitis media, chronic sinusitis, tracheobronchitis, and pneumonia. The child also presented with bronchiectasis and visceral situs inversus. Genetic testing results indicated that the child and her elder siblings had all harbored compound heterozygous variants of the DNAH11 gene, namely c.3000 1G>A and c.5775C>G (p.Tyr1925*), which were respectively inherited from their phenotypically normal parents. Both variants can affect mRNA splicing and protein translation integrity. Based on the guidelines from the American College of Medical Genetics and Genomics, both variants were classified as likely pathogenic. It was predicted that they may jointly lead to a functional defect in axonemal dynein, resulting in the phenotype of PCD, conforming to an autosomal recessive inheritance. CONCLUSION The compound heterozygous variants c.3000 1G>A and c.5775C>G (p.Tyr1925*) of the DNAH11 gene probably underlay the pathogenesis of PCD in this pedigree. The same variant in different individuals may lead to different clinical phenotypes, which has reflected significant heterogeneity in genetic background and clinical phenotype. Above findings have enriched the mutational spectrum of PCD gene and have important implications for the accurate diagnosis, treatment, prognosis, and genetic counseling.
Humans ; Pedigree ; Female ; Axonemal Dyneins/genetics* ; Male ; Child ; Asian People/genetics* ; Kartagener Syndrome/genetics* ; Mutation ; Phenotype ; China ; Adult ; East Asian People

BackgroundSocial support can help alleviate depressive symptoms in patients with major depressive disorder （MDD） and improve individual levels of empathy. The higher the level of empathy， the lower the probability of depressive symptoms. At present， the relationship between social support， empathy and depressive symptoms in MDD patients is unclear. ObjectiveTo explore the pathway of empathy in the relationship between social support and depressive symptoms in patients with MDD， so as to provide references for clinical treatment of MDD patients. MethodsA total of 126 patients who visited the outpatient clinic of Tianjin Anding hospital from July 2020 to September 2022 and met the diagnostic criteria for Major Depressive Disorder （MDD） according to the Diagnostic and Statistical Manual of Mental Disorders， fifth edition （DSM-5） were selected as the study subjects. Hamilton Depression Scale-17 item （HAMD-17）， Interpersonal Reactivity Index （IRI） and Social Support Rating Scale （SSRS） were used for assessment. Pearson correlation analysis was conducted to examine the correlations among the scale scores. Path analysis was performed using Model 4 of the Process 3.4.1. Bootstrap method was used to test the path effects. ResultsAmong MDD patients， HAMD-17 total score was positively correlated with IRI total score and its subscales of fantasy and personal distress （r=0.225， 0.213， 0.220， P<0.05）. HAMD-17 total score was negatively correlated with SSRS total score and its subscales of subjective support and support utilization （r=-0.211， -0.181， -0.208， P<0.05）. The score of support utilization subscale of SSRS was positively correlated with IRI total score and its subscale of perspective taking and empathic concern （r=0.257， 0.261， 0.331， P<0.01）. Empathy served as a pathway between support utilization and depressive symptoms， with an indirect effect of 0.217 （95% CI： 0.060~0.426）， and the effect size was 36.90%. ConclusionEmpathy may serve as a pathway between support utilization and depressive symptoms in patients with MDD.

Paraplegia caused by spinal cord injury is a serious neurological complication, for which surgery is currently the main treatment method. Due to different surgical approaches, patients are usually expected to maintain a passive prone position for a long time or switch between the supine and prone positions. Affected by multiple factors such as neurogenic sensory disorders, pathological changes in muscle tone and operative duration, the risk of intraoperative acquired pressure injury (IAPI) is significantly increased. Current clinical prevention strategies for IAPI in these patients predominantly focus on localized pressure relief during positioning, lacking systematic, standardized comprehensive prevention protocols or evidence-based guidelines. To address it, Department of Nursing, Orthopedics Branch, China International Exchange and Promotive Association for Medical and Health Care, Spinal Trauma Professional Committee, Orthopedics Branch, Chinese Medical Doctor Association, Nursing Group of Spine and Spinal Cord Professional Committee of Chinese Association of Rehabilitation Medicine organized experts in relevant fields to formulate Guideline for the prevention of intraoperative acquired pressure injury in paraplegic patients with spinal cord injury ( version 2025), based on evidence-based medical evidence and latest research results and clinical practice at home and abroad. Eleven recommendations were put forward from the aspects of preoperative risk assessment, intraoperative prevention strategies, postoperative handover and monitoring, and supportive mechanisms for IAPI prevention, aiming to standardize the prevention measures and management strategies of IAPI in paraplegic patients with spinal cord injury and accelerate the recovery of patients and improve the therapeutic effect.

Spine fracture and dislocation are common traumatic spinal conditions that often require surgical intervention due to compromised spinal stability. Surgical approaches include anterior, posterior, and combined anterior-posterior spinal procedures. According to the specific surgical requirements, patients may be placed in the prone position or repositioned between prone and supine positions during surgery. Intraoperative repositioning has become an essential step in patient positioning. However, during repositioning, patients with spinal fracture and dislocation are at increased risk for complications such as hemodynamic instability, nerve injury, and pressure injuries to the skin and soft tissue. Notably, due to the instability of the spinal cord, even minor manipulations can further exacerbate the damage, potentially leading to severe outcomes like paraplegia. Although the current clinical guidelines provide instructive recommendations for standard position, there remains no specific protocols for intraoperative repositioning in patients with spine fracture and dislocation. With a concern for the lack of clinical studies on positioning techniques, risk prevention, and operational norms for special patients, no applicable guidelines or standards are available. A consensus was required to provide clinical reference, meet the requirements of surgical treatment, and minimize the safety risks of patients caused by improper placement of positions. Professional Committee of Operating Room Nursing of Shaanxi Nursing Association organized experts in nursing management and operating room nursing from major hospitals across China to formulate Expert consensus on intraoperative repositioning for patients with spinal fracture and dislocation ( version 2025). The consensus provides 11 recommendations covering pre-repositioning preparation, intraoperative maneuvers, and post-repositioning observation, aiming to provide references for clinical standardization of the intraoperative repositioning process and protection of patients′ safety.

Objective:To explore the effects of umbilical moxibustion combined with a multi-component exercise program on perioperative rehabilitation in frail elderly patients with intertrochanteric fractures so as to provide evidence-based basis for optimizing clinical rehabilitation nursing pathways.Methods:A quasi-experimental study design was used. Convenience sampling was applied to frail select elderly patients with intertrochanteric femoral fractures, who were admitted to Zhengzhou Orthopedic Hospital from January to October 2024. According to their admission time, the patients were divided into four groups: conventional nursing group, umbilical moxibustion group (conventional nursing+umbilical moxibustion), exercise group (conventional nursing+multicomponent exercise), and combination group (conventional nursing+umbilical moxibustion combined with multicomponent exercise), with 31 patients in each group. All the patients underwent internal fixation with proximal femoral nail antirotation under anesthesia. The umbilical moxibustion protocol focused on Shenque acupoint, combined with liver-kidney-nourishing Chinese herbal powder, with each session lasting 20 minutes. The multi-component exercise program was designed in phases, including resistance, balance, and aerobic training. The Harris hip score (HHS), Tilburg frailty indicator (TFI), falls efficacy scale-international (FES-I), and Chinese version of the short form-36 health survey (SF-36) scores were compared among the four groups preoperatively, at 1 month, 3 months postoperatively, and at the last follow-up.Results:A total of 124 elderly patients were involved, including 50 males and 74 females, aged 60-80 years [(71.8±5.0)years]. All the patients were followed up for 6 months. The results of generalized estimating equation showed that the HHS, TFI, FES-I, and SF-36 scores differed significantly in terms of group effect, time effect, and interaction effect among the four groups across all the time points ( P<0.05). Simple effect analysis indicated no significant differences in preoperative HHS, TFI, FES-I, or SF-36 scores among the four groups ( P>0.05). The HHS scores at 1 and 3 months postoperatively were (54.3±5.1)points and (65.7±6.3)points in the umbilical moxibustion group, (61.3±5.3)points and (74.5±6.8)points in the exercise group, and (66.5±5.2)points and (86.3±6.7)points in the combination group, which were all significantly higher than (50.2±4.5)points and (60.7±5.1)points in the conventional nursing group ( P<0.05), with the combination group showing higher scores than the umbilical moxibustion group and exercise group ( P<0.05). At the last follow-up, the HHS score was (77.3±6.0)points in the conventional nursing group and (77.0±5.9)points in the umbilical moxibustion group ( P>0.05); the score was (83.8±4.7)points in the exercise group and (91.4±3.5)points in the combination group, which were significantly higher than that in the conventional nursing group ( P<0.05), with the combination group showing higher score than those in the umbilical moxibustion group and exercise group ( P<0.05). At 1 month, 3 months postoperatively, and at the last follow-up, the TFI total scores were 5.0(3.0, 7.0)points, 3.0(1.0, 5.0)points, and 3.0(0.0, 4.0)points in the umbilical moxibustion group, 4.0(1.0, 6.0)points, 2.0(0.0, 5.0)points, and 2.0(0.0, 3.0)points in the exercise group, and 2.0(0.0, 5.0)points, 1.0(0.0, 2.0)points, and 0.0(0.0, 1.0)points in the combination group, which were all significantly lower than those in the conventional nursing group [7.0(5.0, 10.0)points, 7.0(5.0, 9.0)points, and 6.0(5.0, 8.0)points, respectively] ( P<0.05), with the combination group showing lower scores than the umbilical moxibustion group and exercise group ( P<0.05). The physical and social dimension scores of TFI at 1 month, 3 months postoperatively, and at the last follow-up were significantly lower in the umbilical moxibustion group, exercise group, and combination group than those in the conventional nursing group ( P<0.05), with the combination group showing the lower scores than those in the umbilical moxibustion group and exercise group ( P<0.05). At 1 month postoperatively, no statistically significant difference was observed among the four groups in the psychological dimension scores of TFI ( P>0.05). At 3 months postoperatively and at the last follow-up, the psychological dimension scores of TFI in the umbilical moxibustion group, exercise group, and combination group were all lower than those in the conventional nursing group ( P<0.05), with the combination group showing the lower scores than those in the umbilical moxibustion group and exercise group ( P<0.05). At 1 month, 3 months postoperatively, and at the last follow-up, the FES-I scores were (45.3±4.3)points, (40.9±3.9)points, and (33.9±2.8)points, respectively in the umbilical moxibustion group, (38.7±3.8)points, (32.9±3.6)points, and (30.3±2.2)points, respectively in the exercise group, and (34.2±3.6)points, (30.2±2.6)points, and (27.9±1.3)points, respectively in the combination group, which were all significantly lower than those in the conventional nursing group [(50.9±4.9)points, (50.0±4.9)points, and (40.7±4.2)points] ( P<0.05), with the combination group showing lower scores than those in the umbilical moxibustion group and exercise group ( P<0.05). At 1 month, 3 months postoperatively, and at the last follow-up, the SF-36 physical health scores were (60.6±3.7)points, (76.1±3.5)points, and (78.4±2.6)points, respectively in the umbilical moxibustion group, (57.6±3.7)points, (78.4±3.7)points, and (80.4±3.1)points, respectively in the exercise group, and (65.7±3.1)points, (85.9±2.9)points, and (87.4±2.2)points, respectively in the combination group, which were all significantly higher than those in the conventional nursing group [(47.5±4.6)points, (65.9±4.6)points, and (68.3±4.4)points] ( P<0.05), with the combination group showing higher scores than those in the umbilical moxibustion group and exercise group ( P<0.05). At 1 month, 3 months postoperatively, and at the last follow-up, the SF-36 mental health scores were (59.7±4.1)points, (74.5±3.6)points, and (76.2±3.0)points, respectively in the umbilical moxibustion group, (59.4±4.6)points, (74.1±3.8)points, and (74.4±3.9)points, respectively in the exercise group, and (66.9±4.1)points, (81.6±3.3)points, and (79.9±3.7)points, respectively in the combination group, which were all significantly higher than those in the conventional nursing group [(52.8±5.2)points, (64.0±4.9)points, and (65.3±5.1)points] ( P<0.05), with the combination group showing higher scores than those in the umbilical moxibustion group and exercise group ( P<0.05). Conclusion:For elderly patients with intertrochanteric femoral fracture combined with frailty, umbilical moxibustion combined with a multi-component exercise program can significantly improve hip function, reduce frailty and fall risk, and enhance quality of life.

Objective:To compare the diagnostic efficacy of 18F-fibroblast activation protein inhibitor (FAPI)-42 PET/CT and 18F-FDG PET/CT for bone metastasis in patients with malignant tumors. Methods:From January 2022 to October 2023, the data of 238 patients (160 males, 78 females; age: 58(50, 66) years) with various malignant tumors who underwent both 18F-FAPI-42 and 18F-FDG PET/CT imaging at Nanfang Hospital, Southern Medical University were retrospectively reviewed. An abnormal focal radioactive uptake in bones on the PET images was considered as positive lesion for bone metastasis. The efficacy of 2imaging methods and the supplementary role of CT in the diagnosis of bone metastasis were evaluated by McNemar test. Results:Of 238 patients, 95 were with bone metastases and 143 were without bone metastases, including 436 lesions with bone metastases and 358 lesions without bone metastases. Based on the visual analysis, 18F-FAPI-42 PET showed a higher diagnostic sensitivity than 18F-FDG PET (98.4%(429/436) vs 86.5%(377/436); χ2=41.95, P<0.001), while 18F-FDG PET had a higher diagnostic specificity than 18F-FAPI-42 PET (83.2%(298/358) vs 70.4%(252/358); χ2=22.50, P<0.001), and the accuracies of both methods were similar (85.8%(681/794) vs 85.0%(675/794); χ2=0.16, P=0.685). However, when the positive lesions seen in PET were analyzed combined with the image features on CT by the same scanner, the diagnostic specificity of 18F-FAPI-42 PET/CT was significantly improved compared to that of 18F-FAPI-42 PET alone (91.3%(327/358) vs 70.4%(252/358); χ2=73.01, P<0.001), and was similar to 18F-FDG PET/CT (93.0%(333/358); χ2=0.78, P=0.377). Meanwhile, this combined analysis brought a higher sensitivity and accuracy of 18F-FAPI-42 PET/CT than 18F-FDG PET/CT in diagnosing bone metastases (sensitivity: 98.4%(429/436) vs 86.5%(377/436); χ2=41.95, P<0.001; accuracy: 95.2%(756/794) vs 89.4%(710/794); χ2=21.54, P<0.001). Conclusions:The diagnostic sensitivity of 18F-FAPI-42 PET for bone metastasis is superior to 18F-FDG PET, but the specificity is lower. However, when CT features is combined for analysis, the diagnostic specificity of 18F-FAPI-42 PET/CT is significantly improved, which thus can be used to diagnose bone metastasis accurately and is superior to 18F-FDG PET/CT.

Various researches have reported on the relationship between homocysteine levels and adverse pregnancy outcomes. Researchers are increasingly focusing on the impact of homocysteine on female reproductive health and figuring out the potential positive effects of lowering homocysteine levels on women fertility. Our review aims to systematically summarize the possible roles of homocysteine in female reproductive disorders based on relevant studies from the past 15 years and therapeutic prospects targeting homocysteine to improve the reproductive health of women.

Objective A new occipital bone removal technology was applied to improve the success rate of brain removal.Methods The skull was sawed based on the traditional brain removal technology,and part of the occipital bone was removed downward centered in external occipital protuberance to the foramen magnum,then exposed the telencephalon,cerebellum and posterior medulla oblongata.After that,removed the tentorium cerebelli and cut down the medulla oblongata and the related cranial nerves at the skull base,then removed the brain tissues.Results The removed brain tissues had structurally intact telencephalon,cerebellum and brain stem,clear vessels in the cerebral sulci,and relatively intact optic chiasm,olfactory tracts and vertebro-basilar arteries.Conclusion Brain removal through a fenestration on the external occipital protuberance can effectively preserve the integrity of brain specimens,and improve the success rate of brain removal,which is of great significance for central nervous system teaching and improvement of human brain tissue repositories.

Purpose To compare the HRCT findings of lung damage in patients with idiopathic inflammatory myopathies(IIMs)with positive and negative anti-Ro-52 antibody.Materials and Methods Fifty patients with IIMs admitted to Beijing Shijitan Hospital,Capital Medical University from January 2015 to July 2023 were retrospectively analyzed.The patients were divided into anti-Ro-52 antibody negative group(18 cases)and positive group(32 cases),the lung CT findings of the two groups were compared,the distribution of lung lesions and related signs were analyzed.Results The incidence of interstitial lung disease in the anti-Ro-52 antibody-negative group was 11.1%(1 case),which was lower than that in the positive group 75.6%(31 cases)(P=0.001).Among the interstitial lung disease-positive patients,the proportion of lesions in the anti-Ro-52 positive group was more symmetrical(28 cases,87.5%,P=0.022)and peripheral distribution(20 cases,62.5%,P=0.039)than that in the anti-Ro-52 negative group.Non-specific interstitial pneumonia-like lesions were the main lesions in the two groups,including 14 cases(43.8%)in the anti-Ro-52 positive group and 7 cases(38.9%)in the negative group.However,9 cases(28.1%)of the anti-Ro-52 positive group had acute interstitial pneumonia-like lesions and 1 case(5.6%)of the negative group had acute interstitial pneumonia-like lesions.Imaging accompanying signs:anti-Ro-52 positive combination and consolidation(14 cases,43.8%,P=0.009),nodular shadow(17 cases,53.1%,P=0.025),and reverse halo sign(12 cases,37.5%,P=0.021)were more than those in the anti-Ro-52 negative group.Conclusion IIMs patients with positive anti-Ro-52 antibody have a higher incidence of interstitial lung disease.HRCT findings are of great significance for diagnosis and treatment of IIMs.

Objective To investigate the effect of Nde1 gene knockout on early neural development of zebrafish by visualizing the development of neural networks in zebrafish.Methods Transgenic zebrafish Tg(Nde1-/-;HuC:RFP+/-)was constructed by crossing Nde1-/-with Tg(HuC:RFP+/-).The HuC promoter was employed to drive the expression of red fluorescent protein in neurons,which allowing the visualization of zebrafish neural networks and tracking of neural development.Furthermore,by using Image J and Prism to compare the average fluorescence intensity of neurons and the expression level of fluorescent reporter proteins between Nde1 deficiency zebrafish and wild type zebrafish,the effect of Nde1 gene knockout on zebrafish neural development was analyzed.Results From 48 hours post-fertilization(hpf)to 7 days dpf,the average fluorescence intensity of red fluorescence expressed by trigeminal sensory neurons and spinal cord neurons in Nde1 deficiency zebrafish was lower than that in wild type zebrafish.RT-qPCR results also showed that the mRNA expression level of red fluorescent reporter protein in Nde1 deficiency zebrafish was significantly lower than that in the wild type zebrafish.Conclusion Nde1 gene deletion may lead to abnormal development of trigeminal sensory neurons and spinal cordneurons by affecting neural progenitor cell differentiation and increasing apoptosis.