Mitochondrial dysfunction is a critical factor in the pathogenesis of Alzheimer's disease (AD). The mitochondrial contact site and cristae organizing system (MICOS) plays a pivotal role in shaping the inner mitochondrial membrane, forming cristae junctions and establishing interaction sites between the inner and outer mitochondrial membranes and thereby serving as a cornerstone of mitochondrial structure and function. In the past decade, MICOS abnormalities have been extensively linked to AD pathogenesis. In particular, dysregulated expression of MICOS subunits and mutations in MICOS-related genes have been identified in AD, often in association with hallmark pathological features such as amyloid-β plaque accumulation, neurofibrillary tangle formation, and neuronal apoptosis. Furthermore, MICOS subunits interact with several etiologically relevant proteins, significantly influencing AD progression. The intricate crosstalk between these proteins and MICOS subunits underscores the relevance of MICOS dysfunction in AD. Therapeutic strategies targeting MICOS subunits or their interacting proteins may offer novel approaches for AD treatment. In the present review, we introduce current understanding of MICOS structures and functions, highlight MICOS pathogenesis in AD, and summarize the available MICOS-targeting drugs potentially useful for AD.

Patients with severe trauma require an extremely timely treatment and transfusion plays an irreplaceable role in the emergency treatment of such patients. An increasing number of evidence-based medicinal evidences and clinical practices suggest that patients with severe traumatic bleeding benefit from early transfusion of low-titer group O whole blood or hemostatic resuscitation with red blood cells, plasma and platelet of a balanced ratio. However, the current domestic mode of blood supply cannot fully meet the requirements of timely and effective blood transfusion for emergency treatment of patients with severe trauma in clinical practice. In order to solve the key problems in blood supply and blood transfusion strategies for emergency treatment of severe trauma, Branch of Clinical Transfusion Medicine of Chinese Medical Association, Group for Trauma Emergency Care and Multiple Injuries of Trauma Branch of Chinese Medical Association, Young Scholar Group of Disaster Medicine Branch of Chinese Medical Association organized domestic experts of blood transfusion medicine and trauma treatment to jointly formulate Chinese expert consensus on blood support mode and blood transfusion strategies for emergency treatment of severe trauma patients ( version 2024). Based on the evidence-based medical evidence and Delphi method of expert consultation and voting, 10 recommendations were put forward from two aspects of blood support mode and transfusion strategies, aiming to provide a reference for transfusion resuscitation in the emergency treatment of severe trauma and further improve the success rate of treatment of patients with severe trauma.

Objective:To assess the effectiveness and feasibility of carrier detection for Spinal muscular atrophy (SMA) by using digital PCR assay.Methods:Peripheral blood samples were collected from 214 pregnant women who were routinely screened for SMA carriers, of which 204 were randomly selected samples and 10 were samples with known copy numbers of SMN1 exons 7 and 8. Samples with known copy numbers of SMN1 exons 7 and 8 were randomly mixed into the experiment to validate the performance of the digital PCR assay. The copy numbers of SMN1 exons 7 and 8 and SMN2 exons 7 and 8 in peripheral blood samples were detected by digital PCR assay. The results of SMN1 exons 7 and 8 were compared with those of the quantitative PCR method to assess the reliability and clinical performance of the digital PCR assay. Results:Among the 204 random samples, digital PCR has detected five samples with simultaneous heterozygous deletion of SMN1 exons 7 and 8, three samples with heterozygous deletion of SMN1 exon 8 only, and 196 samples with no deletion of SMN1 exons 7 and 8. Ten samples with known SMN1 exons 7 and 8 copy numbers were detected with the expected values. The digital PCR test results were fully consistent with that of the quantitative PCR. Conclusion:The results of digital PCR for the detection of copy number variation of SMN1 exons 7 and 8 were consistent with qPCR. Digital PCR assay was able to clearly distinguish the copy number of the target genes, therefore can be used for SMA carrier screening. Moreover, it can also detect copy number of SMN2 exons 7 and 8, which can provide more information for genetic counseling.

Objective To investigate the effect of blood flow restriction combined with low-intensity plyometric jump training(LI-PJT+BFR)on lower limb dynamic postural control of functional ankle instability(FAI)in college students. Methods From March to May,2023,40 FAI college students were recruited from Xi'an Physical Education University,and randomly divided into high-intensity plyometric jump training(HI-PJT,n = 14)group,low-intensity plyomet-ric jump training(LI-PJT,n = 13)group and LI-PJT+BFR group(n = 13).All the groups finished the six-week corresponding training.The maximum voluntary isometric contraction(MVIC)of tibialis anterior,peroneus lon-gus,lateral head of gastrocnemius,gluteus maximus,vastus lateralis,biceps femoris and semitendinosus were measured,and the root mean square(RMS)of electromyography of these muscles was measured during the sin-gle-leg landing(SLL),using wireless surface electromyography before and after intervention.Moreover,they were assessed with Y-balance test and Cumberland Ankle Instability Tool(CAIT). Results MVIC and RMS of the target muscles improved after intervention in all the groups(t>2.218,P<0.05),except MVIC and RMS of peroneus longus,gluteus maximus,biceps femoris and semitendinosus in LI-PJT group,and RMS of peroneus longus in LI-PJT+BFR group;and MVIC and RMS of the target muscles were the least in LI-PJT group(F>3.262,P<0.05),except those of peroneus longus.The extension scores of Y-balance test and the total score improved after intervention(t>2.485,P<0.05),and they were the least in LI-PJT group(F>5.042,P<0.05).The CAIT score improved after intervention(t>5.227,P<0.001),and it was the least in LI-PJT group(F = 4.640,P<0.05). Conclusion LI-PJT+BFR could improve lower limb dynamic postural control of FAI college students,which is similar to HI-PJT.

OBJECTIVE: To explore the effectiveness of the percutaneous parallel screw fixation via the posterolateral "safe zone" for Hawkins type Ⅰ-Ⅲ talar neck fractures. METHODS: A retrospective analysis was conducted on the clinical data from 35 patients who met the selection criteria of talar neck fractures between January 2019 and June 2021. According to the surgical method, they were divided into a study group (14 cases, using percutaneous posterolateral "safe zone" parallel screw fixation) and a control group (21 cases, using traditional open reduction and anterior cross screw internal fixation). There was no significant difference in gender, age, affected side, Hawkins classification, and time from injury to operation between the two groups ( P>0.05). The operation time, bone healing time, complications, and Hawkins sign were recorded, and the improvement of pain and ankle-foot function were evaluated by visual analogue scale (VAS) score and American Orthopaedic Foot and Ankle Society (AOFAS) ankle and hindfoot score at last follow-up. The overall quality of life was assessed by the short form of 12-item health survey (SF-12), which was divided into physical and psychological scores; and the satisfaction of patients was evaluated by the 5-point Likert scale. RESULTS: The operation time in the study group was significantly shorter than that in the control group ( P<0.05). All patients werefollowed up 13-35 months, with an average of 20.6 months; there was no significant difference in the follow-up time between the two groups ( P>0.05). The time of bone healing in the study group was shorter than that in the control group, and the positive rate of Hawkins sign (83.33%) was higher than that in the control group (33.33%), and the differences were significant ( P<0.05). In the control group, there were 2 cases of incision delayed healing, 7 cases of avascular necrosis of bone, 3 cases of joint degeneration, 1 case of bone nonunion, and 3 cases of internal fixation irritation; while in the study group, there were only 2 cases of joint degeneration, and there was a significant difference in the incidence of complications between the two groups ( P<0.05). At last follow-up, there was no significant difference in VAS score between the two groups ( P>0.05), but the SF-12 physical and psychological scores, AOFAS ankle and hindfoot scores, and patients' satisfaction in the study group were significantly better than those in the control group ( P<0.05). CONCLUSION The treatment of Hawkins type Ⅰ-Ⅲ talar neck fractures with percutaneous parallel screw fixation via the posterolateral "safe zone" can achieve better effectiveness than traditional open surgery, with the advantages of less trauma, fewer complications, faster recovery, and higher patient satisfaction.
Humans ; Retrospective Studies ; Quality of Life ; Fractures, Bone/surgery* ; Fracture Fixation, Internal/methods* ; Bone Screws ; Joint Dislocations ; Treatment Outcome

Objective:The study aimed to analyze the clinical and endoscopic characteristics of adult celiac disease (CD) to provide a scientific basis for more effective CD diagnosis and treatment.Methods:In this cross-sectional study, the clinical and endoscopic data of 96 adult CD patients treated in the Department of Gastroenterology of the People′s Hospital of Xinjiang Uygur Autonomous Region from March 2016 to December 2021 were retrospectively collected and analyzed.Results:A total of 96 CD patients were diagnosed, including 33 men and 63 women. The average age was 47±14 years (range, 18-81 years). The disease occurred mainly in the age group of 31-60 years. The median course of the disease was 2.0 (0.2-40.0) years. There were 41 (42.7%) classical and 55 (57.3%) non-classical CD patients. All patients with classical CD showed chronic diarrhea, often accompanied by abdominal pain (46.3%, 19/41), abdominal distension (17.1%, 7/41), anemia (65.9%, 27/41), and chronic fatigue (48.8%, 20/41). The main manifestations of non-classical CD were chronic abdominal pain (58.2%, 32/55), abdominal distension (32.7%, 18/55), anemia (40.0%, 22/55), and osteopenia/osteoporosis (38.2%, 21/55). Compared with non-classical CD, anemia developed more frequently in classical CD, and the difference was statistically significant ( P = 0.012). The incidence of complications in CD patients was 36.5% (35/96), and the main complications were thyroid disease (19.8%, 19/96), connective tissue disease (6.2%, 6/96), and kidney disease (6.2%, 6/96). There was no significant difference between classical and non-classical CD ( P>0.05). The frequency of endoscopic manifestations in CD patients was 84.4% (81/96). Duodenal bulb endoscopy showed nodular changes (72.9%, 70/96), grooved changes (10.4%, 10/96), and focal villous atrophy (9.4%, 9/96). The main manifestations of descending endoscopy were the decrease, flattening, or disappearance of duodenal folds (43.8%, 42/96), scallop-like changes (38.5%, 37/96), and nodular changes (34.4%, 33/96). Conclusions:Adult CD patients are mostly female. CD occurred mainly in the age group of 31-60 years. The clinical manifestations were mainly those of non-classical CD. Some patients often had other autoimmune diseases. Patients with characteristic endoscopic manifestations should be warned about the possibility of developing CD. Clinicians should strengthen the understanding of CD and reduce the related rates of missed diagnosis.

During coronavirus disease 2019 epidemic, the treatment of severe trauma has been impacted. The Consensus on emergency surgery and infection prevention and control for severe trauma patients with 2019 novel corona virus pneumonia was published online on February 12, 2020, providing a strong guidance for the emergency treatment of severe trauma and the self-protection of medical staffs in the early stage of the epidemic. With the Joint Prevention and Control Mechanism of the State Council renaming "novel coronavirus pneumonia" to "novel coronavirus infection" and the infection being managed with measures against class B infectious diseases since January 8, 2023, the consensus published in 2020 is no longer applicable to the emergency treatment of severe trauma in the new stage of epidemic prevention and control. In this context, led by the Chinese Traumatology Association, Chinese Trauma Surgeon Association, Trauma Medicine Branch of Chinese International Exchange and Promotive Association for Medical and Health Care, and Editorial Board of Chinese Journal of Traumatology, the Chinese expert consensus on emergency surgery for severe trauma and infection prevention during coronavirus disease 2019 epidemic ( version 2023) is formulated to ensure the effectiveness and safety in the treatment of severe trauma in the new stage. Based on the policy of the Joint Prevention and Control Mechanism of the State Council and by using evidence-based medical evidence as well as Delphi expert consultation and voting, 16 recommendations are put forward from the four aspects of the related definitions, infection prevention, preoperative assessment and preparation, emergency operation and postoperative management, hoping to provide a reference for severe trauma care in the new stage of the epidemic prevention and control.

Objective:To evaluate the safety and efficacy of Toumai ? endoscopic robotic system in radical prostatectomy. Methods:This study was a single-center phase Ⅲ randomized controlled study. From June 2020 to January 2021, patients with prostate cancer who met the inclusion criteria in Changhai Hospital Affiliated to Naval Military Medical University were divided into the experimental group and the control group by random table method. Inclusion criteria included aged 18 to 80 years, pathologically diagnosed as prostate cancer, clinical stage ≤T 2N 0M 0. Exclusion criteria included patients requiring emergency surgery, having serious cardiovascular diseases and cannot tolerate surgery, having participated in other investigational drug or device clinical trials within the last 3 months. The experimental group used Toumai ? laparoscopic robotic system, and the continence group used the Da Vinci robotic system. The patients in both groups underwent radical prostatectomy via a transabdominal approach, which was performed by two surgeons. The clinical characteristics between the two groups were compared, related adverse events were recorded, and PSA and urinary continence were followed up one month after the operation. Results:A total of 44 patients were enrolled in this study, including 22 cases in the experimental group and 22 cases in the control group. The mean age of patients in the trial group and the control group was (67.7±7.5) years and (66.4±6.3) years, respectively. The median PSA at diagnosis was 10.5 (7.7, 23.7) ng/ ml and 13.5 (8.9, 24.7) ng/ ml, respectively. Biopsy Gleason score of 6, 7, 8 and 9 in experimental group were 13.6% (3/22), 68.2% (15/22), 4.5% (1/22) and 13.6% (3/22), respectively, and in the control group were 4.5% (1/22), 59.1% (13/22), 22.7% (5/22) and 13.6% (3/22) respectively. The middle risk and high risk group in the experimental group was 50.0% (11/22), 50.0% (11/22), and the control group was 36.4% (8/22), 63.6% (14/22). There was no statistical difference between the two groups.The operations in both groups were successfully performed. There were no conversions to open or laparoscopic surgeries, and no Clavien-Dindo grade Ⅲcomplications. There was no significant difference in the estimated blood loss during the operation [(109.1±51.6)ml vs.(94.5±51.6)ml] and the blood transfusion rate [9.1%(2/22)vs. 4.5%(1/22)] in both groups. The operation time was significantly higher in the experimental group than that in the control group [164.5(130.5, 214.3) min vs. 88.0(65.3, 110.5)min, P<0.001]. The positive rate of surgical margin was 13.6% (3/22) in the experimental group and 36.4% (8/22) in the control group, respectively, showing no significant difference. The pathologic stages of pT 2, pT 3a and pT 3bin experimental group were 63.6% (14/22), 13.6% (3/22) and 22.7% (5/22), respectively, while those in control group were 36.3% (8/22), 40.9% (9/22) and 22.7% (5/22), respectively, showing no significant difference. The recovery rates of urine control in the experimental group and the control group were 22.7% (5/22) and 22.7% (5/22), respectively. The median PSA in the experimental group and the control group were 0.055 (0.021, 0.103) ng/ ml and 0.032 (0.010, 0.089) ng/ ml, respectively, with no statistical difference. Conclusions:The Toumai ? endoscopic robotic system can successfully perform radical prostatectomy, based on insignificant difference from Da Vinci robotic system in safety and efficacy. The short-term follow-up showed that tumor control and urinary continence have recovered well in the test group. The long-term effect of the new system on tumor control and functional recovery after radical prostatectomy needs further multi-center studies.

In order to prevent the teaching reform of organ system curriculum from fall of teaching quality, the teaching effect of organ system curriculum and subject curriculum system in teaching the basic knowledge of pathophysiology was compared. In organ system curriculum teaching, there was no difference between the grades of students in Batch 2011 and Batch 2012 who conformed to the teaching principle of "gradual improvement" and those of the students taught with subject curriculum system. On the contrary, the students of Batch 2013 and Batch 2014 with insufficient curriculum content integration had a decreasing trend or a significant reduction in the teaching effect of organ system curriculum compared with that of subject curriculum system. After the supplementary for curriculum knowledge was made, the teaching effect of the organ system was significantly improved, which was better than that of the subject curriculum system. In conclusion, we have summarized and reflected on the effectiveness of the teaching reform of organ system curriculum, once again proved that basic medical teaching must also follow the inherent law of medical education, which is the teaching principle of "gradual improvement."

Fatal Outcome ; Female ; Hepatic Encephalopathy/genetics* ; Humans ; Infant ; Male ; Metabolism, Inborn Errors/genetics* ; Mitochondrial Proteins/genetics* ; Mutation ; Peptide Elongation Factor G/genetics* ; Whole Exome Sequencing