Objective:To analyze the clinical characteristics and genetic basis of a male patient with primary infertility caused by Acephalic spermatozoa syndrome.Methods:A patient who had presented at the Henan Provincial People′s Hospital on October 1, 2022 was selected as the study subject. Clinical data and results of laboratory exams and sperm electron microscopy were collected. The patient was subjected to whole exome sequencing (WES), and candidate variants were verified by Sanger sequencing and pathogenicity analysis.Results:WES revealed that the patient has harbored compound heterozygous variants of the PMFBP1 gene, namely c. 853del (p.Ala285Leufs*24) and c. 1276A>T (p.Lys426X), which were both unreported previously. Sanger sequencing suggested that the c. 853del (p.Ala285Leufs*24) variant has derived from his deceased mother, whilst the c. 1276A>T (p.Lys426X) variant has derived from his father. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), both variants were classified as pathogenic (PVS1+ PM2_Supporting+ PP4). Conclusion:The compound heterozygous variants of the PMFBP1 gene probably underlay the Acephalic spermatozoa syndrome in this patient. The discovery of the novel variants has also enriched the mutational spectrum of Acephalic spermatozoa syndrome.

ObjectiveTo observe the effect of Feiyanning prescription （FYN） on cisplatin （DDP） resistance in non-small cell lung cancer （NSCLC） and explore the underlying mechanism. MethodCell counting kit-8 （CCK-8） assay was used to detect the proliferation of A549 and A549/DDP （DDP-resistant） cells treated by DDP （0， 2.0， 4.0， 6.0， 8.0， 10.0 mg⋅L^-1） and the proliferation of A549/DDP cells treated by FYN （0， 100， 200， 300， 400， 500， 600 mg⋅L^-1）. Based on immunofluorescence staining and Western blot （WB）， the expression of epithelial mesenchymal transition （EMT）-related proteins in A549 and A549/DDP groups was observed. A549/DDP cells were classified into control group， FYN group （200 mg⋅L^-1）， DDP group （6.0 mg⋅L^-1）， and combination group ［FYN （200 mg⋅L^-1） + DDP （6.0 mg⋅L^-1）］ and respectively treated with corresponding drugs. Then， invasion ability of each group was examined by transwell assay， and the expression of EMT-related proteins in each group by WB. Moreover， real-time fluorescence quantitative polymerase chain reaction（Real-time PCR） and immunofluorescence staining were separately applied to detect the mRNA and protein expression of drug resistance-related factors in each group， respectively. ResultCompared with A549 group， A549/DDP group showed high resistance to DDP （P<0.01）， low expression of E-cadherin， and high protein expression of Vimentin， N-cadherin， and Snail （P<0.05， P<0.01）. As compared with the control group， FYN inhibited the proliferation of A549/DDP cells in a concentration-dependent manner （P<0.01）， and the FYN group， DDP group， and combination group demonstrated low invasion ability （P<0.01）. In addition， the invasion ability in the combination group was particularly lower than that in the DDP group （P<0.01）. The expression of E-cadherin protein was higher and the protein expression of N-cadherin， Vimentin， and Snail was lower in the in FYN group than in the control group （P<0.01）. The protein expression of E-cadherin， N-cadherin， and Vimentin was lower and the expression of Snail was higher in the DDP group than in the control group （P<0.05，P<0.01）. The protein expression of E-cadherin， N-cadherin， Vimentin， and Snail in the combination group decreased as compared with that in the control group （P<0.01）. Compared with the DDP alone， the combination raised the expression of E-cadherin and lowered the protein expression of N-cadherin， Vimentin， and Snail （P<0.01）. The protein and mRNA expression of lung resistance-related protein （LRP） and multidrug resistance 1 （MDR1） was lower and the protein and mRNA expression of topoisomerase Ⅱα （TOPO Ⅱα） was higher in the FYN group than in the control group （P<0.01）. The protein and mRNA expression of LRP， MDR1， and TOPO Ⅱα was higher in the DDP group than in the control group （P<0.01）. The expression of LRP protein and mRNA showed no significant variation， but the protein and mRNA expression of MDR1 and TOPO Ⅱα increased in the combination group compared with those in the control group （P<0.01）. Compared with the DDP group， FYN group and combination group showed low protein and mRNA expression of LRP and MDR1 and high protein and mRNA expression of TOPO Ⅱα （P<0.01）. Compared with FYN， the combination elevated the protein and mRNA expression of LRP， MDR1， and TOPO Ⅱα （P<0.01）. ConclusionFYN prescription can reverse the DDP resistance of NSCLC by modulating EMT.

Bone substitute material implantation has become an important treatment strategy for the repair of oral and maxillofacial bone defects. Recent studies have shown that appropriate inflammatory and immune cells are essential factors in the process of osteoinduction of bone substitute materials. Previous studies have mainly focused on innate immune cells such as macrophages. In our previous work, we found that T lymphocytes, as adaptive immune cells, are also essential in the osteoinduction procedure. As the most important antigen-presenting cell, whether dendritic cells (DCs) can recognize non-antigen biomaterials and participate in osteoinduction was still unclear. In this study, we found that surgical trauma associated with materials implantation induces necrocytosis, and this causes the release of high mobility group protein-1 (HMGB1), which is adsorbed on the surface of bone substitute materials. Subsequently, HMGB1-adsorbed materials were recognized by the TLR4-MYD88-NFκB signal axis of dendritic cells, and the inflammatory response was activated. Finally, activated DCs release regeneration-related chemokines, recruit mesenchymal stem cells, and initiate the osteoinduction process. This study sheds light on the immune-regeneration process after bone substitute materials implantation, points out a potential direction for the development of bone substitute materials, and provides guidance for the development of clinical surgical methods.
Biocompatible Materials/metabolism* ; HMGB1 Protein/metabolism* ; Myeloid Differentiation Factor 88/metabolism* ; Bone Substitutes/metabolism* ; Dendritic Cells/metabolism*

Objective To study the value of postmortem imaging on the diagnosis of intestinal perforation.Method Postmortem imaging(PMCT and PMCTA)data of 2 intestinal perforation deaths(and 4 controlled cases)were reviewed retrospectively.Diagnosing capacities of intestinal perforation by postmortem imaging method were further investigated.Results PMCT is sensitive in detecting the free air and liquid induced by intestinal perforation.PMCT can sometimes detect the gravity-dependent purulent secretions in the abdominopelvic cavity.PMCTA can visualize the extravasation of contrast agent from the perforation,which can be used to locate the accurate perforation region.Conclusion Postmortem imaging method(PMCT and PMCTA)is an important tool for the diagnosis of intestinal perforation,which can not only be used as a forensic diagnosis method,but is also useful to locate the perforation site before an forensic autopsy.

Mineralized tissue regeneration is an important and challenging part of the field of tissue engineering and regeneration. At present, autograft harvest procedures may cause secondary trauma to patients, while bone scaffold materials lack osteogenic activity, resulting in a limited application. Loaded with osteogenic induction growth factor can improve the osteoinductive performance of bone graft, but the explosive release of growth factor may also cause side effects. In this study, we innovatively used platelet-rich fibrin (PRF)-modified bone scaffolds (Bio-Oss
Autografts ; Bone Regeneration ; Cell Differentiation ; Humans ; Mesenchymal Stem Cells ; Osteogenesis ; Tissue Engineering ; Tissue Scaffolds

OBJECTIVE: To explore the clinical feature and gene variant for two cases of primary male infertility caused by severe asthenospermia and to analyze the etiology of the disease. METHODS: Genomic DNA of peripheral blood samples of patients and their parents was extracted and gene variant analysis of the patients was conducted by using whole exome sequencing. Suspected pathogenic variant was verified by Sanger sequencing and pathogenic analysis. RESULTS: Whole exome sequencing showed that the DNAH1 gene of patient 1 had two heterozygous variants of c.2016T>G(p.Y672X) and c.6017T>G (p.V2006G). The DNAH1 gene of patient 2 had a homozygous variant of c.2610G>A(p.W870X), which were inherited from his father and mother, respectively. According to American College of Medical Genetics and Genomics standards and guidelines, the c.2016T>G (p.Y672X) and c.2610G>A (p.W870X) varaints of DNAH1 gene were predicted to be pathogenic (PVS1+PM2+PM3+PP3). CONCLUSION The two patients of multiple morphological abnormalities of the sperm flagella may be caused by DNAH1 gene variant, which has resulted in primary male infertility.
Dyneins/genetics* ; Genomics ; Humans ; Infertility, Male/genetics* ; Male ; Mutation ; Sperm Tail/pathology* ; Whole Exome Sequencing

The emergence profile of implant restorations plays an important role on the final esthetic outcome. This article intends to review the emergence profile design of implant restorations in the anterior teeth area, and analyse the factors that affect the emergence profile of implant restorations: implant neck design (non-platform-switching bone level implants, platform-switching implants, and soft tissue level implants), implant position and inclination (implant depth, buccal-lingual position, mesiodistal position, and axial inclination), the type of the abutment, quality and quantity of peri-implants soft tissues. The article aims to provide clinical guidelines for the emergence profile design of implant prostheses based on existing literatures and clinical experiences.

Objective To investigate the expressions and the significance among the three markers TGF β1,Survivin and Caspase-3 in intrahepatic bile duct tissues in patients with intrahepatic bile duct stones.Method Total of 130 paraffin section of intrahepatic bile duct tissue were collected at Department of Pathology,The 904th Hospital of Joint Logistic Support Force of PLA from 2013 to 2018.Total of 50 patients with intrahepatic bile duct stones complicated with bile duct strictures (the stenosis group),40 patients with intrahepatic bile duct stones with chronic inflammation (the inflammation group),and 40 patients with normal liver tissues (the normal control group) were included in this study.The expressions of TGF β1,Survivin and Caspase-3 in liver tissues were detected by immunohistochemistry and compared among the 3 groups to find their correlations with the clinicopathological features of the disease of the patients.Results TGF β1 was expressed in 72.0％ of the patients in the stenosis group,37.5％ in the inflammatory group,and 15.0％ in the normal control group.The differences among the groups were significant (P ＜ 0.05);Survivin was expressed in 78.0％ of the patients in the stenosis group,47.5％ in the inflammatory group,and 25.0％ in the normal control group.The differences among the groups were significant (P ＜ 0.05);Caspase-3 was expressed in 10.0％ of the patients in the stenosis group,42.5％ in the inflammatory group,and 75.0％ in the normal control group.The differences among the groups were significant (P ＜ 0.05).Within the stenosis group,TGF β1 was negatively correlated with Caspase-3 (r =-0.882,P ＜ 0.05),and positively correlated with Survivin (r =0.889,P ＜ 0.05).Survivin and Caspase-3 were also negatively correlated (r=-0.923,P＜0.05).Conclusion Abnormal expressions of TGF β1,Survivin and Caspase-3 were involved in the formation of intrahepatic bile duct stones associated with bile duct strictures.

Objective To discuss the effect of body posture change on the catheter tip position of totally implantable venous access port (TIVAP).Methods Under ultrasound guidance,implantation of TIVAP was carried out through bedside puncturing of internal jugular vein or subclavian vein.After the implantation of TIVAP,X-ray chest films of both erect position and supine position were taken to check the catheter tip position.The distance from the upper edge of the first thoracic vertebra to the catheter tip was separately measured on the erect position and supine position chest films.The shift of the catheter tip position was judged by the difference in the distance measured on chest films as well as by the comparison with the bony anatomic marks.Results Successful implantation of TIVAP was accomplished in 86 patients.When the patients changed from erect position to supine position,the catheter tip of TIVAP moved caudally in 71 patients,with the mean displace distance being (12.29±7.48) mm;the catheter tip of TIVAP moved cephalad in 31 patients,with the mean displace distance being (5.00±3.79) mm;and the catheter tip of TIVAP remained in the same position in 2 patients.When the patients changed from erect position to supine position,the catheter tip of TIVAP had a tendency to move toward the foot side,the average displace distance was (-9.32±9.36) mm,the difference in catheter tip location between two photographic positions was statistically significant (P＜0.000 1).No statistically significant correlation existed between the changes of catheter tip position and the sex,age,height,weight as well as body mass index (P＞0.05).Conclusion After the implantation of TIVAP,the position of catheter tip will change with patient's body posture.When patient's posture changes from erect position to supine position the tip of the catheter tends to shift towards the atrium.

Objective To compare the curative effect of transarterial chemoembolization (TACE)plus microwave ablation (MWA) with that of pure TACE in treating hepatocellular carcinoma (HCC) larger than 5 cm in diameter.Methods The clinical data of 208 patients with HCC,who were admitted to authors' hospital to receive treatment during the period from June 2014 to December 2015,were retrospectively analyzed.The patients were divided into combination group (n=40,treated with TACE+MWA) and TACE group (n=168,treated with TACE only).By using 1 ∶ 1 pairing,the curative results of the two groups were analyzed.The survival of patient was taken as the primary observation index,and both the one-month solidtumor response value determined with modified Response Evaluation Criteria in Solid Tumors (mRECIST)and the reduction in AFP level were the secondary observation indexes.Results A total of 31 pairings were accomplished.The baseline data of the paired groups were comparable.The results indicated that half-,one-,1.5-,2-and 2.5-year survival rates in the combination group were 96.8％,90.3％,86.8％,82.5％ and 70.7％ respectively,which were significantly better than those of 77.4％,61.3％,53.6％,48.2％ and 24.1％ respectively in the TACE group (P=0.011).The one-month tumor-control rate and the reduction degree in AFP level of the combination group were better than those of the TACE group.No severe complications occurred in both groups.Conclusion For the treatment of HCC that is larger than 5 cm in diameter,TACE combined with MWA is superior to pure TACE in increasing survival rate as well as in improving tumor-control rate.