Variations in the dynein axonemal heavy chain gene, dynein axonemal heavy chain 6 (DNAH6), lead to multiple morphological abnormalities of the flagella. Recent studies have reported that these deficiencies may result in sperm head deformation. However, whether DNAH6 is also involved in human acrosome biogenesis remains unknown. The purpose of this study was to investigate DNAH6 gene variants and their potential functions in the formation of defective sperm heads and flagella. Whole-exome sequencing was performed on a cohort of 375 patients with asthenoteratozoospermia from the First Affiliated Hospital of Anhui Medical University (Hefei, China). Hematoxylin and eosin staining, scanning electron microscopy, and transmission electron microscopy were performed to analyze the sperm morphology and ultrastructure. Immunofluorescence staining and Western blot analysis were conducted to examine the effects of genetic variants. We identified three novel deleterious variants in DNAH6 among three unrelated families. The absence of inner dynein arms and radial spokes was observed in the sperm of patients with DNAH6 variants. Additionally, deficiencies in the acrosome, abnormal chromatin compaction, and vacuole-containing sperm heads were observed in these patients with DNAH6 variants. The decreased levels of the component proteins in these defective structures were further confirmed in sperm from patients with DNAH6 variants using Western blot. After intracytoplasmic sperm injection (ICSI) treatment, the partner of one patient with a DNAH6 variant achieved successful pregnancy. Overall, novel variants in DNAH6 genes that contribute to defects in the sperm head and flagella were identified, and the findings indicated ICSI as an effective clinical treatment for such patients.

Periarticular fracture of the shoulder is a common type of fractures in the elderly. Postoperative adverse events such as internal fixation failure, humeral head ischemic necrosis and upper limb dysfunction occur frequently, which seriously endangers the exercise and health of the elderly. Compared with the fracture with normal bone mass, the osteoporotic periarticular fracture of the shoulder is complicated with slow healing and poor rehabilitation, so the clinical management becomes more difficult. At present, there is no targeted guideline or consensus for this type of fracture in China. In such context, experts from Youth Osteoporosis Group of Chinese Orthopedic Association, Orthopedic Expert Committee of Geriatrics Branch of Chinese Association of Gerontology and Geriatrics, Osteoporosis Group of Youth Committee of Chinese Association of Orthopedic Surgeons and Osteoporosis Committee of Shanghai Association of Chinese Integrative Medicine developed the Chinese expert consensus on the diagnosis and treatment of osteoporotic periarticular fracture of the shoulder in the elderly ( version 2023). Nine recommendations were put forward from the aspects of diagnosis, treatment strategies and rehabilitation of osteoporotic periarticular fracture of the shoulder, hoping to promote the standardized, systematic and personalized diagnosis and treatment concept and improve functional outcomes and quality of life in elderly patients with osteoporotic periarticular fracture of the shoulder.

Objective: To observe the effects of exosomes derived from human umbilical cord mesenchymal stem cells on the proliferation and invasion of pancreatic cancer cells, and to analyze the contents of exosomes and explore the mechanisms affecting pancreatic cancer cells. Methods: Exosomes extracted from human umbilical cord mesenchymal stem cells were added to pancreatic cancer cells BxPC3, Panc-1 and mouse models of pancreatic cancer, respectively. The proliferative activity and invasion abilities of BxPC3 and Panc-1 cells were measured by cell counting kit-8 (CCK-8) and Transwell assays. The expressions of miRNAs in exosomes were detected by high-throughput sequencing. GO and KEGG were used to analyze the related functions and the main metabolic pathways of target genes with high expressions of miRNAs. Results: The results of CCK-8 cell proliferation assay showed that the absorbance of BxPC3 and Panc-1 cells in the hucMSCs-exo group was significantly higher than that in the control group [(4.68±0.09) vs. (3.68±0.01), P<0.05; (5.20±0.20) vs. (3.45±0.17), P<0.05]. Transwell test results showed that the number of invasion cells of BxPC3 and Panc-1 in hucMSCs-exo group was significantly higher than that in the control group (129.40±6.02) vs. (89.40±4.39), P<0.05; (134.40±7.02) vs. (97.00±6.08), P<0.05. In vivo experimental results showed that the tumor volume and weight in the exosomes derived from human umbilical cord mesenchymal stem cells (hucMSCs-exo) group were significantly greater than that in the control group [(884.57±59.70) mm(3) vs. (695.09±57.81) mm(3), P<0.05; (0.94±0.21) g vs. (0.60±0.13) g, P<0.05]. High-throughput sequencing results showed that miR-148a-3p, miR-100-5p, miR-143-3p, miR-21-5p and miR-92a-3p were highly expressed. GO and KEGG analysis showed that the target genes of these miRNAs were mainly involved in the regulation of glucosaldehylation, and the main metabolic pathways were ascorbic acid and aldehyde acid metabolism, which were closely related to the development of pancreatic cancer. Conclusion: Exosomes derived from human umbilical cord mesenchymal stem cells can promote the growth of pancreatic cancer cells and the mechanism is related to miRNAs that are highly expressed in exosomes.
Mice ; Animals ; Humans ; MicroRNAs/metabolism* ; Exosomes/genetics* ; Sincalide/metabolism* ; Pancreatic Neoplasms/metabolism* ; Carcinoma, Pancreatic Ductal/genetics* ; Mesenchymal Stem Cells/metabolism* ; Umbilical Cord

Objective: To explore clinicopathological features of low-grade oncocytic tumor (LOT) of the kidney and to analyze its relationship to hybrid oncocytic/chromophobe tumor (HOCT) of the kidney, renal oncocytoma (RO), and chromophobe renal cell carcinoma (chRCC). Methods: Seven LOTs were identified from the pathologic archives of two hospitals, including Xiangya Hospital (5 cases) and the Second Xiangya Hospital (2 cases) of Central South University between 2012 and 2019. Clinical data of the LOTs were collected. The tumor morphology was analyzed and immunohistochemistry was performed. Results: All LOTs occurred in adults, aged from 49 to 72 years (median 56.0 years, mean 60.7 years). The tumor size ranged from 2.5 to 6.0 cm (median 4.3 cm, mean 4.3 cm). There were three male and four female patients. Three cases occurred in the left kidney and four in the right. All the tumors were solitary lesions without the clinicopathologic background of Birt-Hogg-Dubé (BHD) syndrome or oncocytosis. Five patients had available follow-up data (follow-up period 23-95 months, median 69.0 months, mean 64.6 months) and all were alive without disease. Microscopically, all LOTs were well-circumscribed (7/7). Three LOTs were partly encapsulated. The tumors demonstrated a predominant growth pattern comprising prominently compact small nests surrounded by delicately branching thin-walled blood vessels, imparting an organoid architecture (7/7), but variable numbers of glandular or gland-like structures were often seen among the small nests (7/7). There were frequently areas with loose, edematous stroma, and the tumor cells exhibited reticular, trabecular, or single cell arrangements (6/7). Focal hemorrhage was also commonly present in both compact and loose areas (5/7). In addition, focally cystic formation and ossification occurred in the compact area of one case and in the loose area of another case. The tumor cells in LOT showed intermediate cytologic characteristics between RO and chRCC, including abundantly eosinophilic granular cytoplasm, ovoid to round nuclei with mostly smooth contours, discernable small nucleoli (RO features), frequently delicate perinuclear halos, and occasional binucleation (chRCC features). The tumors were typically CK7-positive and CD117-negative (7/7), and variable staining for PAX8 (5/7), P504s (2/7), and vimentin (1/7). They were negative for CK20, CD10 and FOXI1. All tumors retained SDHB immunostaining. Conclusions: LOT is a rare and indolent oncocytic renal tumor with homogeneously intermediate cytologic features between RO and chRCC. There are some clinicopathologic overlaps between LOT and sporadic HOCT. The distinctive morphology and immunophenotype of LOT suggest that it is potentially a distinct tumor entity.
Adenoma, Oxyphilic/pathology* ; Adult ; Biomarkers, Tumor/genetics* ; Carcinoma, Renal Cell/pathology* ; Female ; Forkhead Transcription Factors ; Humans ; Keratin-7 ; Kidney/pathology* ; Kidney Neoplasms/pathology* ; Male

TSCI have dyskinesia and sensory disturbance that can cause various life-threaten complications. The patients with traumatic spinal cord injury (TSCI), seriously affecting the quality of life of patients. Based on the epidemiology of TSCI and domestic and foreign literatures as well as expert investigations, this expert consensus reviews the definition, injury classification, rehabilitation assessment, rehabilitation strategies and rehabilitation measures of TSCI so as to provide early standardized rehabilitation treatment methods for TSCI.

Objective To study the change patterns of bone microstructural parameters around the magnesium based- implants after implantation in rabbit femur at different implantation time points. Methods The threaded and non-threaded high-purity magnesium (HP Mg, 99.99 wt.%) screws, with a 2 mm diameter and a 7 mm length, were implanted into the femoral condyle of the rabbits. The control group was the drilled and healthy group. Micro-CT scanning and analysis were performed at 8th, 12th and 16th week after operation. The obtained microstructural parameters included bone mineral density (BMD), bone volume fraction (BV/TV), trabecular thickness (Tb.Th), trabecular number (Tb.N), trabecular separation (Tb.Sp). Results At 8th week, BMD and BV/TV in non-threaded magnesium screw group were significantly higher than those in healthy group, Tb.N was significantly higher than that in drilled and healthy group, and Tb.Sp was significantly lower than that in healthy group. At 12th week, BMD, BV/TV and Tb.N in threaded magnesium screw group were significantly higher than those in drilled and healthy group, Tb.Th was significantly higher than that in healthy group, and Tb.Sp was significantly lower than that in drilled and healthy group. At 16th week, BMD, BV/TV and Tb.N in non-threaded magnesium screw group were significantly higher than those in drilled and healthy group, and Tb.Sp was significantly lower than that in drilled and healthy group. Conclusions The magnesium based-implant promoted higher BMD, BV/TV, Tb.Th, Tb.N and lower Tb.Sp of surrounding implant, indicating that osseointegration and bone growth were in good condition. Magnesium based-implant could effectively promote the regeneration of bone. The results provide a theoretical basis for the orthopedic application of magnesium based-implants in clinic.

Objective To compare the in vivo degradation rates of two different kinds of high purity magnesium bone screws by animal experiments, so as to make some suggestions on structural design of high purity magnesium bone screws. Methods High purity magnesium bone screws with threads and without threads were implanted into femoral condyles of New Zealand rabbits separately. Twenty-four rabbits were randomly divided into 3 groups. They were euthanized at 8, 12 and 16 weeks after operation, respectively. The in vivo degradation rates of bone screws with two different shapes were compared through micro-CT scanning and Skyscan CT-analyser software, and the stress changes during the progress of bone screw degradation were analyzed. Results The initial surface area of threaded screws ［(31.70±0.06) mm2］ was significantly greater than that of the non-threaded ones ［(29.56±0.22) mm2］. After 8, 12 and 16 weeks, the volume loss ratios of the threaded screws were (26.01±3.44)%, (33.35±5.05)%, (36.84±6.99)%, respectively, and the volume loss ratios of the non-threaded screws were (22.53±4.78)%, (31.12±6.59)%, (43.22±9.31)%, respectively. At the same time point, there were no significant differences in the volume loss ratio between two kinds of screws. The relationship between the volume reduction and the implantation time was linear for non-threaded screws and gradually decreasing for threaded screws. Conclusions Under the low-bearing condition, different structural design for high purity magnesium screws has no obvious effect on their degradation rate in vivo.

Objective To compare the clinical efficacy of primary closure versus T-tube drainage after laparoscopic common bile duct exploration in acute cholangitis cases.Methods The clinical data of 100 patients with acute cholangitis undergoing laparoscopic common bile duct exploration from January 2012 to December 2014 were reviewed.54patients received primary closure of the common bile duct and 46 patients were subjected to T-tube drainage after choledochotomy.Results One hundred patients underwent the surgery successfully.Compared with the T-tube group,the operation time(96.72 min vs 123.00 min,P =0.001),intraoperative blood loss(27.13 ml vs 38.48 ml,P =0.009),postoperative gastrointestinal function recovery time(1.57 d vs 2.33 d,P=0.003) and postoperative hospital stay(6.19 d vs 9.20 d,P=0.000) were significantly less in the primary closure group.There were no statistical differences in the incidence of postoperative drainage (309.22 ml vs 212.46 ml,P =0.070),drainage time (3.96 d vs 4.02 d,P =0.875),incidence of bile leakage(9.3％ vs 0,P =0.060) and postoperative bleeding rate(5.1％ vs 2.2％,P =0.622) between these two groups.Conclusion Laparoscopic common bile duct exploration with primary closure of the common bile duct is an effective and safe procedure in acute cholangitis cases compared with T-tube drainage.

OBJECTIVE: To observe the impact of energy saving light,incandescent light and circadian light on the ethology of depressive rats and explore its possible mechanism on affecting the secretion of melatonin. METHODS: Thirty rats aged 6weeks were randomly selected from 40 specific pathogen free health female SD rats after they adapted to the living environment,depressive rat models were established in the rats by bilateral ovariectomy combined with isolated living and chronic unpredictable mild stress stimulation at the age of 11-14 weeks. Then these 30 ovariectomized rats were randomly divided into 3 intervention groups,including an energy saving light group,an incandescent light group and a circadian light group,with 10 rats in each group. The rats in these 3 groups were given specific experimental light intervention for 3 weeks respectively at the age of 17 weeks. The other 10 rats were raised in conventional environment as the control group. Their body weights were measured at the age of 17,19,20 and 21 weeks. The ethology tests were carried out by sucrose preference test and the open-field test at the age of 7,14 and 20 weeks respectively. The melatonin levels in peripheral blood of 7 time points from 19: 30 to 8: 30 were measured in the rats at age of 21 weeks. One rat in each group at every time point was randomly selected for examination. RESULTS: At the age of 17 weeks before light-intervention,the body weights of rats in 4 groups showed no significant difference( P > 0. 05). After light-intervention,at the age of 17-20 weeks,the body weights of rats in 3 intervention groups were gradually increased with the increase of age( P < 0. 05).There was no significant difference between body weights of rats at the age of 21 weeks and those at the age of 20 weeks in each group( P > 0. 05). At age of 7 weeks,no significant differences were found in sucrose consumption and standing scores among these 4 groups( P > 0. 05). After the depressive models were established,at the age of 14 weeks before light-intervention,in rats of these 3 intervention groups,the sucrose consumption and standing scores were lower than those of the control group( P < 0. 05),and there was no significant difference found in the above 2 indexes among these 3intervention groups( P > 0. 05). At the age of 20 weeks after light-intervention,the sucrose consumption and standing scores were not significantly different from each other among the 4 groups( P > 0. 05). The peak levels of melatonin in the peripheral blood of rats in these 3 intervention groups were higher than that in the control group. The peak levels onsets of melatonin in peripheral blood of rats in the circadian light group and the energy saving light group were earlier or 2 hours delayed compared to that of control group,while it was similar between the incandescent light group and control group.CONCLUSION: The circadian light,the energy saving light and the incandescent light are similarly effective in improving the behaviors of depressive rats. The circadian light can delay the onset of peak level of melatonin in peripheral blood.

Oncocytic lipoadenoma is a rare tumor, with only 18 cases having been reported since the first in 1998. We encountered a case of oncocytic lipoadenoma presenting as a slowly growing parotid mass in a 71-year-old man. This tumor is characteristically comprised of a mixture of oncocytes and adipocytes. The present case is one of five reported cases of oncocytic lipoadenoma showing sebaceous differentiation. The results of immunohistochemical study with DOG1 antibody supported the origination of this tumor in the striated duct.
Adipocytes ; Aged ; Humans ; Oxyphil Cells ; Parotid Gland*