Objective To investigate the genetic causes of auditory neuropathy with optic atrophy in a family.Methods The proband's medical history and family history were inquired in detail,and relevant clinical examina-tions were performed to confirm the diagnosis of auditory neuropathy with optic atrophy,and the genetic pedigree of the family was drawn.Peripheral blood of proband(Ⅲ-7)was collected for whole exome sequencing,and the patho-genicity of the detected mutations were interpreted.Blood samples of proband's wife(Ⅲ-8),eldest daughter(Ⅳ-7),second daughter(Ⅳ-9)and son(Ⅳ-10)were tested for mutation sites by Sanger sequencing.Combined with clinical manifestations and examination results,the family was studied.Results The genetic pattern of this family was autosomal dominant.The proband showed decreased visual acuity at the age of 19,bilateral sensorineural deaf-ness at the age of 30,and decreased speech recognition rate.Among 20 members of the family of 5 generations,10(2 deceased)showed similar symptoms of hearing and visual impairment.Proband(Ⅲ-7),eldest daughter(Ⅳ-7)and son(Ⅳ-10)underwent relevant examination.Pure tone audiometry showed bilateral sensorineural deafness.ABR showed no response bilaterally.The 40 Hz AERP showed no response in both ears.OAE showed responses in some or all of the frequencies.No stapedial reflex was detected.The eye movement of Ⅲ-7 and Ⅳ-10 were reasona-ble in all directions,and color vision was normal.Ocular papilla atrophy was observed in different degrees in fundus examination.OCT showed thinning of optic disc nerve fibers in both eyes,and visual evoked potential showed pro-longed P100 wave peak.They were diagnosed as hereditary auditory neuropathy with optic atrophy.A mutation of the OPA1 gene c.1334G＞A(p.Arg445His,NM_015560.2)at a pathogenic locus on chromosome 3 was detected by whole exon detection in Ⅲ-7.The results of generation sequencing analysis showed that the OPA1 gene c.1334G＞A(p.Arg445His,NM_015560.2)mutation of chromosome 3 was also found in Ⅳ-7 and Ⅳ-10.Meanwhile,the gen-otypes of Ⅲ-8 and Ⅳ-9 were wild homozygous,that is,no mutation occurred.Conclusion The OPA1 c.1334G＞A(p.Arg445His,NM_015560.2)mutation site might be the pathogenic mutation in this family.

Objective:To describe and analyze suicide risk of patients with schizophrenia,major depressive disorder,and bipolar disorder.Methods:A total of 2 016 patients with schizophrenia,903 patients with major de-pressive disorder,and 381 patients with bipolar disorder from inpatients,clinics,or communities who met the diag-nostic criteria of the Diagnostic and Statistical Manual of Mental Disorders,Fifth Edition were recruited.All patients were interviewed by psychiatrists using the Mini International Neuropsychiatric Interview to diagnose mental disor-ders and assess suicide risk,as well as Clinical-Rated Dimensions of Psychosis Symptom Severity(CRDPSS)to as-sess symptoms.Differences and risk factors of suicide risk among three types of mental disorders were explored u-sing multivariate logistic regression analysis.Results:In the past one month,37 patients with schizophrenia(1.8％),516 patients with major depressive disorder(57.1％),and 102 patients with bipolar disorder(26.8％)had suicide risk.Compared with patients with schizophrenia,suicide risk in patients with major depressive disorder(OR=36.50)and bipolar disorder(OR=20.10)increased.Female(OR=1.87),smoking(OR=1.76),family history of suicide(OR=5.09),higher score of CRDPSS hallucination(OR=1.80),and higher score of CRDPSS depression(OR=1.54)were risk factors of suicide risk of patients.Conclusions:Suicide risk of patients with ma-jor depressive disorder and bipolar disorder is higher than that of patients with schizophrenia.In clinical practice,it is important to regularly assess suicide risk of patients.Patients who experience symptoms of hallucination and de-pression should be paid more attention to.

Objective:To explore the clinical characteristics and related socio-demographic factors of schizo-phrenia patients with different ages of onset.Methods:Totally 2 016 patients with schizophrenia aged 15 to 70 were selected according to the diagnostic criteria for schizophrenia in the Diagnostic and Statistical Manual of Mental Disorders,Fifth Edition.All of the patients were interviewed by psychiatrists using the Mini International Neuropsy-chiatric Interview to diagnose schizophrenia,Clinical-Rated Dimensions of Psychosis Symptom Severity(CRDPSS)and the Positive and Negative Syndrome Scale(PANSS)to assess symptoms.The cut-off points were 18 and 25 years old for three age groups,i.e.early onset(EOS),youth onset(YOS)and adult onset(AOS).Statistical analy-ses were performed by analysis of variance Pearson correlation analysis,and multivariate linear regression.Results:The early-onset patients had the highest total PANSS score(73.8±28.0)and CRDPSS score(11.7±5.4).Fe-male gender,high education level,Han ethnicity,early onset age,and slower onset of illness were negatively corre-lated with the total and dimension score of PANSS scale and CRDPSS scale(standardized regression coefficient:0.04-0.47),and income level and smoking were negatively correlated with those score(standardized regression coefficient:-0.04--0.14).Conclusion:Early-onset schizophrenia patients have more severe symptoms,and fe-male,high education level,early-onset disease,and chronic onset are the risk factors of symptom severity in patients with schizophrenia.

Objective To explore the pharmacodynamic substances of Simiao Wan for the treatment of hyperuricemia and gout.Methods The pharmacological model of hyperuricemia was established.The chemical components in vivo and in vitro of Simiao Wan were analyzed by UPLC-Q-Exactive-MS.Based on the components absorbed in blood,the"active ingredient-target-pathway"network of Simiao Wan for regulating hyperuricemia and gout was constructed by network pharmacology method.The key ingredients were used for molecular docking with key targets[uricogenase(XDH),uric acid transporter(ABCG2,GLUT9,OAT1,URAT1)and inflammatory targets(PTGS2,TLR2,TLR4)]of hyperuricemia and gout.Finally,experimental verification was conducted according to the results of molecular docking.Our aim is to identify the key pharmacodynamic substances of Simiao Wan for the treatment of hyperuricemia and gout.Results Eighty-nine components of Simiao Wan were identified by UPLC-Q-Exactive-MS analysis,including 74 components absorbed in blood,which were confirmed as candidate ingredients.Network pharmacology was used to constructed"components absorbed in blood-target-pathway"network,and components absorbed in blood were matched with 116 targets of hyperuricemia and 173 targets of gout.It is involved in the regulation of biological processes,such as glucose and lipid metabolism,oxidative stress,inflammatory response,ERK1 and ERK2 cascade,MAPK cascade,PI3K signal transduction.Moreover,Simiao Wan plays a role in regulating the network of hyperuricemia and gout through regulating blood lipids and atherosclerosis,apoptosis,AGE-RAGE,TNF,PI3K-Akt,MAPK,TLRs,JAK-STAT,NF-κB and other signaling pathways.Molecular docking studies showed that berberine,phellodendrine,magnoflorine,jatrorrhizine,palmatine,obacunone,limonin,atractylodin,taxifolin,atractylenolide Ⅲ and β-ecdysterone had good affinity with uric acid synthase,uric acid transporter and inflammatory targets.Western Blot test showed that taxifolin negatively regulates the expression of URAT1.The above-mentioned compounds were the main pharmacodynamic substances of Simiao Wan for the treatment of hyperuricemia and gout.Conclusion This article describes the main pharmacodynamic substances of Simiao Wan in the regulation of hyperuricemia and gout,which can provides a scientific basis for the clinical application,improvement in quality evaluation and standard of Simiao Wan.

Objective:To explore the effect and safety of mesenchymal stem cell exosome microneedle introduction in the treatment of melasma.Methods:Thirty cases of female patients with stable melasma in the Department of Dermatology, Changsha Meilai Medical Beauty Hospital, aged (36±5) years and with a disease duration of (42.4±20.7) months, from July 2021 to July 2022, were retrospectively included. According to Fitzpatrick skin typing, 23 cases of type Ⅲ and 7 cases of type Ⅳ were included. All patients were locally anesthetized with lidocaine cream for 30 min, and rolled with a 0.5 mm needle in a zigzag pattern with even force, in the order of the right cheek, the left cheek, the forehead, the nose, the mandible, and the upper lip. During the rolling process, 3 ml of MSC exosome medical liquid wound dressing was applied to the facial skin, and after it was fully absorbed, exosome was locally readministered in the area of melasma. Treatment ended with a slight redness at the site of application. 1 MSC exosome wound dressing was appllied as a cold compress for 15 min after treatment. Treatment was given once every 2 weeks for 6 consecutive sessions. All the patients were followed up at 4 and 12 weeks after the last session, and the area and severity index of melasma (MASI) were scored before and after the treatment, the clinical efficiency and patient satisfaction rate and the incidence of adverse reactions were also counted.Results:At 4 and 12 weeks after the end of treatment, the skin color of all 30 patients was brighter than that before treatment, and no recurrence of melasma symptoms seen. At 12 weeks after the end of treatment, the decrease rate of MASI score was 66.1%, among which the decrease rate of MASI score in patients with type Ⅲ melasma was 63.9%, and the decrease rate of MASI score in patients with type Ⅳ melasma was 63.9%. Among the 30 patients, 1 case was cured, 25 cases showed obvious improved, 4 cases were improved, and no cases were ineffective, with an effective rate of 86.7% (26/30). Five patients were very satisfied, 18 patients were satisfied, 6 patients were generally satisfied, and 1 patient was dissatisfied; the patient satisfaction rate was 76.7% (23/30). No serious adverse reactions occurred in all patients.Conclusions:MSC exosome microneedle introduction is safe and effective in the treatment of melasma without serious adverse reactions.

Objective:To evaluate the safety and efficacy of single incision apocrine gland excision in the treatment of children and adult patients with axillary osmidrosis.Methods:Medical records and follow-up results were reviewed for 164 patients who underwent surgical treatment in our department by the same surgeon from January 2013 to December 2016. There were 54 males and 110 females, aged 8-61 years. with a median age of 22 years. The patients were divided into the children group ( n=31) and the adults group ( n=133), and differences between the two groups were compared. Results:The end point of follow-up was December 2019, the cure and overall satisfaction rates in the third year after surgery were 77.6% (125/161) and 88.2% (142/161) for the total population, including 87.5% (27/31) and 93.5% (29/31) for the children, respectively. There were no significantly differences in the cure rate, scar, pigmentation and the patients' satisfaction between two groups during the follow-up. The cure rate, significantly improved rate and satisfaction rate in patients who became adult during the follow-up were 80.0% (20/25), 92.0% (23/25) and 96.0% (24/25), respectively.Conclusions:Single incision apocrine gland excision could be performed for children patients. Our procedure is safe, reliable and consistant, and worthy of clinical application.

Infectious bone defect is bone defect with infection or as a result of treatment of bone infection. It requires surgical intervention, and the treatment processes are complex and long, which include bone infection control,bone defect repair and even complex soft tissue reconstructions in some cases. Failure to achieve the goals in any step may lead to the failure of the overall treatment. Therefore, infectious bone defect has been a worldwide challenge in the field of orthopedics. Conventionally, sequestrectomy, bone grafting, bone transport, and systemic/local antibiotic treatment are standard therapies. Radical debridement remains one of the cornerstones for the management of bone infection. However, the scale of debridement and the timing and method of bone defect reconstruction remain controversial. With the clinical application of induced membrane technique, effective infection control and rapid bone reconstruction have been achieved in the management of infectious bone defect. The induced membrane technique has attracted more interests and attention, but the lack of understanding the basic principles of infection control and technical details may hamper the clinical outcomes of induced membrane technique and complications can possibly occur. Therefore, the Chinese Orthopedic Association organized domestic orthopedic experts to formulate An evidence-based clinical guideline for the treatment of infectious bone defect with induced membrane technique ( version 2023) according to the evidence-based method and put forward recommendations on infectious bone defect from the aspects of precise diagnosis, preoperative evaluation, operation procedure, postoperative management and rehabilitation, so as to provide useful references for the treatment of infectious bone defect with induced membrane technique.

Femoral neck fracture (FNF) in the elderly patients is currently a major health challenge worldwide, with excessive consumption of medical resources, high incidence of complications as well as suboptimal outcome and prognosis. Hip joint arthroplasty (HJA) has been the mainstream treatment for FNF in the elderly, but the conventional surgical approaches and techniques are still confronted with a series of bottlenecks such as dislocation, limp and limb length discrepancy. In recent years, direct anterior approach (DAA) for HJA (DAA-HJA) has been a major new choice in the field of joint replacement, which achieves improved clinical effectiveness of HJA in the treatment of elderly FNF, due to the fact that DAA approach involves the neuromuscular interface and accords with the idea of soft tissue retention and enhanced recovery after surgery. However, there is still a lack of unified understanding of standard technique and procedure of DAA-HJA in the treatment of elderly FNF. Therefore, relevant experts from the Hip Joint Group of Chinese Orthopedics Association of Chinese Medical Association, Youth Arthrology Group of Orthopedic Committee of PLA, Orthopedic Committee of Chongqing Medical Association, Branch of Orthopedic Surgeons of Chongqing Medical Doctor Association and Sport Medicine Committee of Chongqing Medical Association were organized to formulate the " Chinese expert consensus on the technical standard of direct anterior hip arthroplasty for elderly femoral neck fracture ( version 2023)" based on evidence-based medicine. This consensus mainly proposed 13 recommendations covering indications, surgical plans, prosthesis selections, surgical techniques and processes, and postoperative management of DAA-HJA in elderly patients with FNF, aiming to promote standardized, systematic and patient-specific diagnosis and treatment to improve the functional prognosis of the patients.

Objective : To explore the method of using high-fat diet combined with angiotensin-Ⅱ ( Ang-Ⅱ) and β-aminopropionitrile (BAPN) to establish the model of aortic dissection in mice． Methods : 24 C57BL /6J mice (4 weeks old，male) were randomly divided into control group［intraperitoneal injection of 0．9% sodium chloride solu- tion 10 ml / (kg · d) ］and experimental groups［Ang-Ⅱ 4 mg / ( kg · d) group，Ang-Ⅱ 4 mg / ( kg · d) + BAPN 0. 33 g / (kg · d) group］，each group with 8 mice ; all mice were given a high-fat diet and the mice weights were measured at the same time point and administered according to the weight standard．The dead mice were dissected immediately and the aorta was taken out for pathological section，then observed under the microscope．The morphology of aorta was detected by small animal ultrasound and the mice with obvious dissection were killed and dissected directly. Results : After administration，the activity and appetite of mice in the high-fat diet combined with Ang-Ⅱ + BAPN group decreased most significantly，and the mortality rate of aortic dissection rupture and the success rate of modeling in this group were higher than those in the high-fat diet combined with Ang-Ⅱ group，while there was no significant change in the control group．Under the ultrasound of small animals，compared with the other two groups，the mice in the high-fat diet combined with Ang-Ⅱ + BAPN group showed the formation of abdominal aortic vascular false lumen and vascular enlargement．The mice that died during the administration were dissected immediately，and a large number of blood clots in the abdominal cavity and around the blood vessels could be seen．The mice with aortic dissection or aortic aneurysm could be seen under ultrasound in small animals，and severe adhesion between the vascular wall and the surrounding tissues could be found when dissected，while no obvious abnormalities were found in the blood vessels of the control group．The results of the staining showed that the false lumen of blood vessel wall was formed and the arrangement of elastin and collagen was disordered in the mice of high fat diet com- bined with Ang-Ⅱ + BAPN group．The thickness of blood vessel wall in each group was statistically analyzed，and it was found that the blood vessels in the two experimental groups were thicker than those in the control group，which was statistically significant (P＜0. 001) ．The vascular wall of Ang-Ⅱ + BAPN + high-fat diet group showed severe elastin degradation． Conclusion High-fat diet combined with Ang-Ⅱ 4 mg / (kg · d) and BAPN 0. 33 g / (kg · d) can establish an efficient model of aortic dissection in mice.

Objective:To summarize the infective characteristics of Fournier's gangrene (FG) and evaluate the effect of negative pressure wound therapy (NPWT).Methods:A retrospective case control study was conducted to analyze the clinical data of 31 patients with FG admitted to Peking University First Hospital from May 2010 to September 2020, including 29 males and 2 females, aged 21-78 years [(55.2±2.0)years]. A total of 29 patients were caused by infectious diseases of the perianal and urinary system, and the rest two patients were caused by vulvar infection and retroperitoneal abscess. A total of 23 patients were treated with NPWT (Group A) and 8 patients were treated with conventional dressing (Group B). Characteristics of pathogen, drug-resistance rate, medical treatment and prognosis for all patients were summarized. The hospitalization duration, numbers of operation and wound healing time were compared between two groups.Results:Monomicrobial infection was identified in 14 patients, while polymicrobial infection in 15 patients, fungal infection in 1 and culture-negative in 1. Escherichia coli, Enterococcus faecalis, Enterococcus faecium, Klebsiella pneumoniae and Staphylococcus haemolyticus were the most common pathogenic bacteria. The resistance rate of gram-negative bacilli to third-generation cephalosporins was 37%. Staphylococcus haemolyticus were methicillin-resistant Staphylococcus. The carbapenem antibiotics combined with vancomycin antibiotics were used for all patients as the empirical anti-infection treatment. Three patients died, and the rest 28 patients were followed up for 3 to 12 months [(10.8±2.6)months] after discharge. All the wounds were healed well without recurrence. In Group A and Group B, the hospitalization duration was (37.4±15.0)days and (47.0±16.0)days, respectively ( P>0.05); the number of operation was 3(3, 6) times and 13(4, 17)times, respectively ( P<0.05); the wound healing time was (38.9±17.8)days and (61.8±14.2)days, respectively ( P<0.05). Conclusions:Enterobacteriaceae, Enterococcus and Staphylococcus haemolyticus are the most common pathogenic bacteria for FG, among which the proportion of drug-resistant bacteria is relatively high. NPWT is an effective adjuvant therapy for wound management with reduced operation times and short wound healing time compared to conrentional method.