Primary ciliary dyskinesia (PCD) is a congenital, motile ciliopathy with pleiotropic symptoms. Although nearly 50 causative genes have been identified, they only account for approximately 70% of definitive PCD cases. Dynein axonemal heavy chain 10 (DNAH10) encodes a subunit of the inner arm dynein heavy chain in motile cilia and sperm flagella. Based on the common axoneme structure of motile cilia and sperm flagella, DNAH10 variants are likely to cause PCD. Using exome sequencing, we identified a novel DNAH10 homozygous variant (c.589C > T, p.R197W) in a patient with PCD from a consanguineous family. The patient manifested sinusitis, bronchiectasis, situs inversus, and asthenoteratozoospermia. Immunostaining analysis showed the absence of DNAH10 and DNALI1 in the respiratory cilia, and transmission electron microscopy revealed strikingly disordered axoneme 9+2 architecture and inner dynein arm defects in the respiratory cilia and sperm flagella. Subsequently, animal models of Dnah10-knockin mice harboring missense variants and Dnah10-knockout mice recapitulated the phenotypes of PCD, including chronic respiratory infection, male infertility, and hydrocephalus. To the best of our knowledge, this study is the first to report DNAH10 deficiency related to PCD in human and mouse models, which suggests that DNAH10 recessive mutation is causative of PCD.
Humans ; Male ; Animals ; Mice ; Semen/metabolism* ; Dyneins/metabolism* ; Cilia/metabolism* ; Mutation ; Ciliary Motility Disorders/genetics*

Objective:To investigate the value of CT features in predicting visceral pleural invasion (VPI) in clinical stage ⅠA peripheral lung adenocarcinoma under the pleura.Methods:The CT signs of 274 patients with clinical stage ⅠA peripheral lung adenocarcinoma under the pleura diagnosed in Changzheng Hospital of Naval Medical University from January 2015 to November 2021 were retrospectively analyzed. According to the ratio of 6∶4, 164 patients collected from January 2015 to August 2019 were used as the training group, and 110 patients collected from August 2019 to November 2021 were used as the validation group. The maximum diameter of the tumor (T), the maximum diameter of the consolidation part (C), and the minimum distance between the lesion and the pleura (DLP) were quantitatively measured, and the proportion of the consolidation part was calculated (C/T ratio, CTR). The CT signs of the tumor were analyzed, such as the relationship between the tumor and the pleura classification, the presence of a bridge tag sign, the location of the lesion, density type, shape, margin, boundary and so on. Variables with significant difference in the univariate analysis were entered into multivariate logistic regression analysis to explore predictors for VPI, and a binary logistic regression model was established. The predictive performance of the model was analyzed by receiver operating characteristic curve in the training and validation group.Results:There were 121 cases with VPI and 153 cases without VPI among the 274 patients with lung adenocarcinoma. There were 79 cases with VPI and 85 cases without VPI in the training group. Univariate analysis found that the maximum diameter of the consolidation part, CTR, density type, spiculation sign, vascular cluster sign, relationship of tumor and pleura and bridge tag sign between patients with VPI and those without VPI were significantly different in the training group( P<0.05). Multivariate logistic regression analysis found the relationship between tumor and pleura [taking type Ⅰ as reference, type Ⅱ (OR=6.662, 95%CI 2.364-18.571, P<0.001), type Ⅲ (OR=34.488, 95%CI 8.923-133.294, P<0.001)] and vascular cluster sign (OR=4.257, 95%CI 1.334-13.581, P=0.014) were independent risk factors for VPI in the training group. The sensitivity, specifcity, and area under curve (AUC) for the logistic model in the training group were 62.03%, 89.41% and 0.826, respectively, using the optimal cutoff value of 0.504. The validation group obtained an sensitivity, specifcity, and AUC of 92.86%, 47.06%, and 0.713, respectively, using the optimal cutoff value of 0.449. Conclusion:The relationship between the tumor and the pleura and the vascular cluster sign in the CT features can help to predict visceral pleural invasion in the clinical stage ⅠA peripheral lung adenocarcinoma under the pleura.

Objective To evaluate the effectiveness of deep learning methods to detect subsolid nodules from chest X-ray images.Methods The building,training,and testing of the deep learning model were performed using the research platform developed by Infervision,China.The training dataset consisted of 1 965 chest X-ray images, which contained 85 labeled subsolid nodules and 1 880 solid nodules. Eighty-five subsolid nodules were confirmed by corresponding CT exams. We labeled each X-ray image using the corresponding reconstructed coronal slice from the CT exam as the gold standard,and trained the deep learning model using alternate training.After the training,the model was tested on a different dataset containing 56 subsolid nodules,which were also confirmed by corresponding coronal slices from CT exams. The model results were compared with an experienced radiologist in terms of sensitivity,specificity,and test time. Results Out of the testing dataset that contained 56 subsolid nodules, the deep learning model marked 72 nodules,which consisted of 39 true positives(TP)and 33 false positives(FP).The model took 17 seconds.The human radiologist marked 39 nodules,with 31 TP and 8 FP.The radiologist took 50 minutes and 24 seconds. Conclusions Subsolid nodules are prone to mis-diagnosis by human radiologists. The proposed deep learning model was able to effectively identify subsolid nodules from X-ray images.

Objective To establish regression m odel betw een craniofacial lines and body height by m ea-suring craniofacial lines in Southw est H an m ales using C Tand to accum ulate data for the study of foren-sic anthropology. Methods H ead C Tdata of 273 H an m ales in Southw est w ere collected and 7 cranio-facial lines w ere determ ined. M ultiplanar reconstruction and volum e rendering w ere perform ed by im age post-processing softw are and the selected lines w ere m easured. The relationship betw een each m easuring indicator and body height w as analyzed using SPSS 21.0 softw are. The regression equation of body height estim ation w as established and 50 sam ples w ere selected again and put into the m athem atics m odels to verify its accuracy. Results The linear regression equations of 7 lines w ere established (P<0.05). The correlation coefficients of the unary linear regression equations w ere 0.190-0.439 and the standard errors of the estim ate (SEE) w ere 4.597-5.023 cm . The correlation coefficients of the m ultiple linear regression equation w ere 0.494-0.524 and the SEEw ere 4.418-4.458 cm . The return tests show ed that the highest ±1SEEaccuracy of the m ultiple regression equation:y=83.959+3.589 x6+2.573 x2, w ere 30%;and the highest ±2SEEaccuracy of the m ultiple regression equation: y=72.646+3.316 x6+1.586 x2+1.553 x4+2.211 x3, w ere 92% . Conclusion There is significant linear correlation betw een 7 selected lines and the stature in this study, and the plural linear regression equation established could be applied for estim ating the stature of Southw est H an m ales.

OBJECTIVE: To establish regression model between craniofacial lines and body height by measuring craniofacial lines in Southwest Han males using CT and to accumulate data for the study of forensic anthropology. METHODS: Head CT data of 273 Han males in Southwest were collected and 7 craniofacial lines were determined. Multiplanar reconstruction and volume rendering were performed by image post-processing software and the selected lines were measured. The relationship between each measuring indicator and body height was analyzed using SPSS 21.0 software. The regression equation of body height estimation was established and 50 samples were selected again and put into the mathematics models to verify its accuracy. RESULTS: The linear regression equations of 7 lines were established (P < 0.05). The correlation coefficients of the unary linear regression equations were 0.190-0.439 and the standard errors of the estimate (SEE) were 4.597-5.023 cm. The correlation coefficients of the multiple linear regression equation were 0.494-0.524 and the SEE were 4.418-4.458 cm. The return tests showed that the highest ± 1SEE accuracy of the multiple regression equation: y = 83.959+3.589 x6+2.573 x2, were 30%; and the highest ± 2SEE accuracy of the multiple regression equation: y = 72.646+3.316 x6+1.586 x2+1.553 x4+2.211 x3, were 92%. CONCLUSION There is significant linear correlation between 7 selected lines and the stature in this study, and the plural linear regression equation established could be applied for estimating the stature of Southwest Han males.
Asian People ; Body Height ; Face/anatomy & histology* ; Forensic Anthropology ; Head/anatomy & histology* ; Humans ; Image Processing, Computer-Assisted ; Linear Models ; Male ; Software ; Tomography, X-Ray Computed

OBJECTIVETo investigate the early diagnosis and treatment for trauma around the knee with popliteal vascular injury.

METHODSA retrospective analysis was employed to analyze the clinical data from 15 patients (9 males and 6 females were with a mean age of 39.2 years old,ranging from 26 to 62 years old) with fracture or dislocation around the knee with popliteal vascular injury from January 2007 to January 2013. Combined with clinical symptoms and signs, oxygen saturation monitors, color ultrasound, DSA angiography and interventional surgery were used to determine the vascular injury. The knee fracture and dislocation were fixed with hybrid external fixation and plate-screw fixation, respectively. Then, the blood circulation was reconstructed by thrombectomy, repair and autologous vein graft for individual injured vascular. The average total operation time, average hospitalization days, predictive salvage index (PSI), average blood transfusion amount, average medical expenses and infection cases were recorded to determine the effect of early diagnosis and treatment.

RESULTSThere was one patient with death, 8 patients with amputation, and 6 patients with successful repair surgery for popliteal artery, anterior tibial and posterior tibial arteries. These six patients with surviving limbs were followed up for an average of 28.3 months (ranged, 12 to 60 months). Among the 6 successful patients, the joint function of 4 patients was good and excellent.

CONCLUSIONThe trauma around the knee with popliteal vascular injury is characterized by complex and serious injury, easy misdiagnosis and loss diagnosis, poor prognosis and high risk of amputation. The early diagnosis of trauma around the knee with popliteal vascular injury should depend on the mechanism of trauma, local anatomical characteristics of injury site, clinical presentations and appropriate auxiliary examinations. The appropriate indications for limb salvage and amputation should be used to achieve more effective clinical results.

Adult ; Early Diagnosis ; Female ; Humans ; Knee Injuries ; diagnosis ; surgery ; Male ; Middle Aged ; Popliteal Artery ; injuries ; surgery ; Retrospective Studies

This study was purposed to investigate the expression of latent membrane protein 1 (LMP-1) and CD68 in Hodgkin's lymphoma (HL) patients with EB virus infection and to analyze the relation of LMP-1 expression and CD68(+) tumor-associated macrophage count with clinical features and prognosis of HL patients. The expression of LMP1 and count of CD68(+) TAM were detected by immunohistochemical staining in tissue specimens of 72 HL patients; their correlation with clinical features and prognosis of HL patients was analyzed by using statistical method. The results showed that among tissue specimens of 72 HL patients, the positive rate of LMP-1 expression was 18.1% (13/72), the CD68(+) TAM count was more higher in LMP-1 positive expression [250 of CD68(+) TAM/high power field (hpf) is used as demarcation point] (P = 0.003). The statistical analysis showed that the LMP-1 positive expression was more observed in mixed type HL patients (P = 0.000); the positive rate of LMP-1 expression was much high in HL patients with albumin <40 g/L and age ≥ 45 years (P < 0.05). There was no relation of LMP-1 expression and CD68(+) TAM count with the short term therapeutic efficacy of HL patients, but the overall survival time of LMP-1 positive patients among patients followed-up for ≥ 5 years was short (P < 0.05). Moveover, no correlation of CD68(+) TAM count with the overall survival time of HL patients was found. It is concluded that the high count of CD68(+) TAM is more observed in LMP-1 positive expression of HL tissue, the LMP-1 expression states relates both with the pathological types, age and albumin level of patient with HL. The HL patients with LMP-1 positive expression have poor prognosis, suggesting that LMP-1 may be a new prognostic marker for HL patients.
Adolescent ; Adult ; Aged ; Aged, 80 and over ; Antigens, CD ; metabolism ; Antigens, Differentiation, Myelomonocytic ; metabolism ; Biomarkers, Tumor ; metabolism ; Child ; Epstein-Barr Virus Infections ; Female ; Hodgkin Disease ; diagnosis ; virology ; Humans ; Male ; Middle Aged ; Prognosis ; Viral Matrix Proteins ; metabolism ; Young Adult

OBJECTIVETo explore optimal choice of surgical treatment and operative approach for closed complex tibial plateau fractures and its influencing factors.

METHODSFrom January 2003 to January 2011, 95 patients with closed complex tibial plateau fractures were estimated Schatzker V and Vl, and treated with three different surgical methods. The methods included single plate through anterolateral incision (Group A, 22 cases), double plates through inside and outside incisions (Group B, 36 cases), and double plates through antero-midline incisions (Group C, 37 cases). There were 56 males and 39 females, ranged the age from 19 to 57 years (averaged, 36.3 years), 50 cases in left, 45 cases in right. According to Schatzker classification, 51 cases were type V, 44 cases were VI. The data of operation time, intraoperative blood loss, complications (infectious of wound, necrosis, bad incision, collapse fracture, loosen of internal fixation, fracture failure)and recovery of function of lower limb joint were collected.

RESULTSThere were no significant difference among three groups in operation time (P > 0.05); blood loss in group A was obvious better than other groups (P < 0.05); collapse of joint surface and failure rate of internal fixation in group A was higher than other groups (P > 0.05); Merchant score after 1 year were higher in group B, C than group A. For lower limb function, 10 cases got excellent results, 5 good, 4 fair and 3 poor in group A; 21 cases got excellent results, 11 good, 3 fair and 1 poor in group B; 23 cases got excellent results, 11 good,2 fair and 1 poor in group C.

CONCLUSIONThe blood loss in group A was least, but fracture exposure and joint surface was not satisfactory, and stable fixation could not be achieved, the long-term result was not good. For fractures with double condyles and dislocated involved, double plates through inside and outside incisions or double plates through antero-midline incisions was suggested,which benefit good reduction of joint surface, stable fixation, and erlier exercise.

Adult ; Bone Plates ; Case-Control Studies ; Female ; Fracture Fixation ; adverse effects ; methods ; Fractures, Closed ; surgery ; Humans ; Male ; Middle Aged ; Tibial Fractures ; surgery

OBJECTIVETo observe the efficacy of the combination of Qilin Pills and levofloxacin in the treatment of asthenospermia accompanied with accessory sex gland infection.

METHODSWe randomly assigned 80 asthenospermia patients with accessory sex gland infection to groups 1 and 2 of equal number, the former treated with Qilin Pills + levofloxacin, and the latter with levofloxacin only. Qilin Pills were administered at the dose of 6 g tid for 30 days, and levofloxacin at the dose of 0.5 g qd for 20 days. We obtained semen parameters, including the percentage of progressively motile sperm and peroxidase-positive white blood cell (WBC) count, before and after medication, and compared the clinical effects between the two groups.

RESULTSAll the patients accomplished the clinical trial. The therapeutic effectiveness rates in improving progressive sperm motility were 60% in group 1 and 17.5% in group 2, with statistically significant differences between the two groups (P < 0.05). As for the peroxidase-positive WBC count in semen, the effectiveness rates were 87.5% and 82.5%, respectively, with no significant differences between the two groups (P > 0.05).

CONCLUSIONFor the treatment of asthenospermia accompanied with accessory sex gland infection, Qilin Pills combined with levofloxacin is evidently better than levofloxacin alone in improving sperm motility, and it has no obvious adverse effects.

Adult ; Asthenozoospermia ; complications ; drug therapy ; Drugs, Chinese Herbal ; therapeutic use ; Humans ; Infertility, Male ; drug therapy ; Levofloxacin ; therapeutic use ; Male ; Phytotherapy ; Reproductive Tract Infections ; drug therapy ; Treatment Outcome ; Young Adult

OBJECTIVETo evaluate the clinical value of MDCT and MRI in the diagnosis and treatment of complex fractures of tibial plateau.

METHODSFrom March 2004 to January 2009,71 patients with complex fractures of tibial plateau estimated Schatzker III, V and VI were included in the study. Their X-ray films, MDCT, MRI were analyzed and compared. Twenty-four patients (14 males and 10 females with a mean age of 33.6 years) were treated with double incision and single plate. Average follow-up period was 31.4 months. Twenty-one patients (12 males and 9 females with a mean age of 33.2 years) were treated with double incision and bilateral plates. Average follow-up period was 28.4 months. Twenty-six patients (17 males and 9 females with a mean age of 35.3 years) were treated with bilateral plates via genicular anterior midline incision. Average follow-up period was 28.4 months. The index such as diagnosis correction for fracture location, fracture comminuted degree,fracture displacement degree,bone defect degree,and positive ration for number of collapsed joint surface,injuries of cruciate ligament, collateral ligament and menisci of knee joint.

RESULTSThe satisfaction score of X-ray flims, MDCT and MRI were (1.04 +/- 0.20), (1.82 +/- 0.38) and (1.12 +/- 0.33) separately for fracture positions; (0.81 +/- 0.51), (1.92 +/- 0.26) and (0.83 +/- 0.60) separately for fractures comminuted degree; (1.23 +/- 0.48), (1.92 +/- 0.26) and (0.46 +/- 0.58) separately for fracture displacement degree; (0.36 +/- 0.51), (1.55 +/- 0.79) and (0.26 +/- 0.53) separately for bone defect; the number of patients having collapse of tibial articular surface were 6,61 and 12 separately; the number of patients having cruciate ligaments were 3,10 and 17 separately; the number of patients having menisci injuries were 0,0 and 6 separately;the number of patients having collateral ligament injuries were 1, 1 and 8 separately. MDCT was the most sensitive method in the diagnosis of tibial articular surface collapse,avulsion tibial fracture at the point of cruciate ligament,fracture comminuted degree and fracture displacement degree (P < 0.01). MRI was the most sensitive method in the diagnosis of injuries of cruciate ligament, collateral ligament, menisci, the cartilage peeling of articular surface (P < 0.01).

CONCLUSIONMDCT and MRI further detail the Schatzker classification based on X-ray films, which also conduce to make precise diagnosis and reasonable treatments. MDCT and MRI are more sensitive for the diagnosis of insidious damages around knee.

Adult ; Case-Control Studies ; Diagnostic Techniques and Procedures ; Female ; Fracture Fixation, Internal ; Humans ; Internal Fixators ; Magnetic Resonance Imaging ; methods ; Male ; Middle Aged ; Tibia ; diagnostic imaging ; injuries ; Tibial Fractures ; diagnosis ; diagnostic imaging ; surgery ; Tomography, X-Ray Computed ; methods ; Young Adult