AIM: To investigate the changes of retinal nerve fiber layer(RNFL)thickness, retinal thickness and blood flow density in different stages of diabetic retinopathy(DR)patients based on optical coherence tomography angiography(OCTA).METHODS: A retrospective analysis was conducted on 382 patients(382 eyes)diagnosed with DR in our hospital from February 2023 to February 2024. According to the staging criteria, the patients were divided into mild group(n=121), moderate group(n=133), severe group(n=72), and proliferative group(n=56). The general clinical data of the four groups of patients was compared; OCTA was used to scan and collect data from all patients, and the RNFL thickness, retinal thickness, and blood flow density were compared among the four groups of patients.RESULTS: There was no statistically significant difference in age, gender, hypertension, chronic kidney disease, and random blood glucose among patients in the mild, moderate, severe, and proliferative groups(all P>0.05). As the stage of DR worsened, the duration of the disease gradually prolonged(P<0.05). The thickness of the RNFL(superior, inferior, temporal, nasal, and average thickness)and retinal thickness significantly increased with the severity of DR(all P<0.001); however, there was no statistically significant difference in inferior RNFL thickness between the moderate and mild groups(P>0.05). The blood flow density in the superficial and deep retinal layers, as well as in the choroidal capillary layer, significantly decreased with the progression of DR(all P<0.05). Nevertheless, there was no statistically significant difference in superficial retinal blood flow density between the moderate and severe groups(P>0.05).CONCLUSION: OCTA can accurately observe the changes in RNFL thickness, retinal thickness, and blood flow density in patients with DR at different stages, which can serve as sensitive indicators for monitoring DR progression.

Objective To compare the clinical characteristics of cirrhosis with or without portal vein thrombosis(PVT),and to analyze the therapeutic effect of transjugular intrahepatic portosystemic shunt(TIPS)in treating cirrhosis with or without PVT.Methods The clinical data of 193 patients with cirrhosis complicated by gastrointestinal bleeding,who received TIPS from October 2018 to October 2022,were retrospectively analyzed.According to the presence or absence of PVT before TIPS,the patients were divided into non-PVT group(n=118)and PVT group(n=75).After TIPS,the patients were followed up at one,3,6 months and every 6 months thereafter.The effect of PVT on the clinical characteristics of cirrhosis patients and on the therapeutic efficacy after TIPS were analyzed.Results The success rate of TIPS was 100％in both groups.The proportion of carrying out splenectomy or partial splenic artery embolization(PSE)in PVT group was 26.7％(20/75),which was obviously higher than 13.6％(16/118)in non-PVT group,the difference between the two groups was statistically significant(x2=5.192,P=0.023).In PVT group the preoperative Child-Pugh score,the model of end-stage liver disease(MELD)score and serum sodium model of end-stage liver disease(MELD-Na+)score were(8.1±1.9)points,(9.2±8.0)pointsand(9.2±8.0)points respectively,which in non-PVT group were(7.4±1.9)points,(7.7±5.8)points and(7.7±5.8)points respectively,the differences between the two groups were statistically significant(all P＜0.05).The incidence of overt hepatic encephalopathy in PVT group was 33.3％(25/75),which was strikingly higher than 19.5％(23/118)in non-PVT group,the difference between the two groups was statistically significant(P=0.030).No statistically significant differences in postoperative survival rate,rebleeding rate and stent dysfunction rate existed between the two groups(all P＞0.05).Conclusion For the treatment of cirrhotic patients with PVT complicated by gastrointestinal bleeding,TIPS is clinically safe and effective.In cirrhotic patients with PVT,the worse the liver function is,the higher the incidence of overt hepatic encephalopathy after TIPS will be.

Objective To compare and analyze the clinical characteristics and efficacy of transjugular intrahepatic portosystemic shunt(TIPS)in the treatment of liver cirrhosis with different portal vein thrombosis(PVT)grades.Methods A retrospective analysis was performed on 75 patients with liver cirrhosis and gastrointestinal bleeding who received TIPS.According to the Yerdel scale of PVT,the patients were divided into type Ⅰ(34 cases),type Ⅱ(25 cases)and type Ⅲ(16 cases).The patients were followed up 1,3,6 months after TIPS and every 6 months thereafter to compare the clinical data and the efficacy of TIPS in three types of PVT patients.Results The success rate of TIPS in three types of patients was 100％.There were differences in platelet to lymphocyte ratio(PLR)and proportion of different Child-Pugh grades among the three types of patients(P＜0.05).After TIPS,portal vein pressure was decreased compared with that before TIPS(P＜0.001).However,there were no significant differences in postoperative survival rate,rebleeding rate,over hepatic encephalopathy rate,stent dysfunction rate,thrombus complete recanalization rate and thrombus recurrence rate(P＞0.05).Conclusion The success rate of TIPS in three types of patients is higher,and the portal vein pressure is decreased significantly after TIPS,but there are no significant differences in the postoperative efficacy.Although the implementation of TIPS in cirrhotic PVT patients is challenging,it is still worth the effort to reshape the portal vein for the benefit of patients.

Humans ; Bile Reflux/complications* ; Cross-Sectional Studies ; Risk Factors ; Gastric Mucosa

Aromatase deficiency (AD) is a rare autosomal recessive genetic disease caused by loss-of-function mutations in aromatase gene (CYP19A1), leading to congenital estrogen deficiency syndrome. Both mothers of AD patients during pregnancy and female AD fetus show virilization, while male patients are usually diagnosed in adulthood due to continued height increase and metabolic abnormalities. In 2019, a patient with AD was admitted in the Second Xiangya Hospital. The patient was a 37-year-old adult male who continued to grow linearly after adulthood. His estradiol was below the measurable line, the follicle-stimulating hormone (FSH) increased, bone age delayed, epiphysis unfused, and the bone mass reduced. CYP19A1 gene detection showed that c.1093C>T, p.R365W was homozygous mutation. This disease is rare in clinic. Clinicians need to raise awareness of the disease for early diagnosis and treatment to improve the long-term prognosis of patients.
46, XX Disorders of Sex Development/genetics* ; Adult ; Aromatase/metabolism* ; Female ; Gynecomastia/genetics* ; Humans ; Infertility, Male ; Male ; Metabolism, Inborn Errors ; Mutation ; Pregnancy

Background: Gastric mucosal atrophy and intestinal metaplasia (IM) are precancerous conditions of gastric cancer. Although Moluodan has been used in the treatment of chronic atrophic gastritis (CAG), there is little study on efficacy evaluation of Moluodan based on pathological stages. Aims: To assess the efficacy of Moluodan on reversal of gastric mucosal atrophy and IM based on OLGA and OLGIM staging systems, and to analyze the related factors. Methods: A total of 104 patients with CAG and IM from October 2019 to January 2022 at Xijing Hospital of Air Force Medical University were enrolled retrospectively in this study. All the patients received Moluodan treatment (one bag each time, three times daily) for 6 months. Changes of OLGA and OLGIM stages before and after treatment, and the related factors affecting the efficacy were analyzed. Results: After treatment with Moluodan for 6 months, the reversal rates for gastric mucosal atrophy and IM were 47.1% (49/104) and 51.0% (53/104), respectively, and the overall efficacy was 65.4% (68/104). There were 49.3% (34/69) and 52.4% (22/42) of patients with higher OLGA and OLGIM stages (III-) reversed to lower stages (0-Ⅱ), respectively. In addition, patients with OLGA and OLGIM stage III- showed a higher reversal rate than those with stage -Ⅱ (all P<0.01). No correlations were found between the demographic data, life and dietary styles, family history of gastric cancer, operation history, comorbidities, severity of mucosal inflammation and the efficacy of Moluodan (all P>0.05). Conclusions: Moluodan could reverse gastric mucosal atrophy and IM effectively in patients with CAG, which suggests that Moluodan has good potential in prevention of gastric cancer.

Complex structural variants(CSVs)are genomic alterations that have more than two breakpoints and are considered as the simultaneous occurrence of simple structural variants.How-ever,detecting the compounded mutational signals of CSVs is challenging through a commonly used model-match strategy.As a result,there has been limited progress for CSV discovery com-pared with simple structural variants.Here,we systematically analyzed the multi-breakpoint con-nection feature of CSVs,and proposed Mako,utilizing a bottom-up guided model-free strategy,to detect CSVs from paired-end short-read sequencing.Specifically,we implemented a graph-based pattern growth approach,where the graph depicts potential breakpoint connections,and pattern growth enables CSV detection without pre-defined models.Comprehensive evaluations on both simulated and real datasets revealed that Mako outperformed other algorithms.Notably,validation rates of CSVs on real data based on experimental and computational validations as well as manual inspections are around 70％,where the medians of experimental and computational breakpoint shift are 13 bp and 26 bp,respectively.Moreover,the Mako CSV subgraph effectively characterized the breakpoint connections of a CSV event and uncovered a total of 15 CSV types,including two novel types of adjacent segment swap and tandem dispersed duplication.Further analysis of these CSVs also revealed the impact of sequence homology on the formation of CSVs.Mako is publicly available at https://github.com/xjtu-omics/Mako.

Objective:To explore the application of cannulating the ischemic femoral and right axillary artery in Sun’s procedure for acute type A aortic dissection with lower extremity ischemia.Methods:Twelve patients of acute Stanford type A aortic dissection complicated by lower extremity ischemia were analyzed retrospectively between July 2017 and May 2019, and the right axillary and ischemic femoral artery were used for cardiopulmonary bypass. All the 12 patients were male and categorized as the complicated Stanford type A aortic dissection. The mean age was(48.4±8.4)years, and the median time from symptom onset to emergency operation was 24.00(18.50, 43.25)hours. Eleven patients presented with unilateral extremity ischemia, while bilateral extremity ischemia occurred in one. The prosthetic vessel, with a diameter of 8 mm, was anastomosed to the ischemic femoral artery via an end-to-side way. Both the right axillary artery and the prosthetic vessel were cannulated for CPB. For the proximal dissection in this cohort of patients, we performed Bentall procedure in 5 cases, ascending aortic replacement in 3, and the aortic valve commissure reconstruction with ascending aortic replacement in 4. Total arch replacement with stented elephant trunk implantation were carried out for arch and descending aortic lesion in 12 cases.Results:Early mortality was 8.3%(1/12). The time of CPB, aortic clamp, circulatory arrest, and selective cerebral perfusion averaged(204.6±26.3) min, (114.6±16.6) min, (23.4±8.5) min, and(33.5±11.0) min, respectively. Five patients underwent concomitant bypass procedures, including: ascending aorta-bilateral femoral artery bypass in 1, ascending aorta-right femoral artery bypass in 3, ascending aorta-left femoral artery bypass in 1. Acute renal failure with continuous renal replacement therapy occurred in 4 cases, re-thoratomy for hemaostsis in 1, and re-intubation in 1. One patient developed osteofascial compartment syndrome after aortic repair, and consequent left lower extremity compartment fasciotomy was performed. The mean follow-up time was(17.2±7.6)months, and no aortic-related adverse event was detected during follow up.Conclusion:To acute Stanford type A aortic dissection with lower extremity ischemia, cannulating the ischemic femoral and right axillary artery in Sun’s procedure were associated with lower perioperative mortality and better prognosis.

Objective    To explore the surgical technique and preliminary results of endoscopic nipple-sparing mastectomy (E-NSM) and immediate pre-pectoral implant-based breast reconstruction (BR) with titanium-coated polypropylene mesh (TiLoop Bra) via single axillary incision for breast cancer patients. Methods    The clinical data of 9 consecutive female patients who underwent E-NSM and immediate pre-pectoral implant-based BR with TiLoop Bra from  March to May 2021 were retrospectively analyzed. The mean age of patients was 40.6 (22-60) years. The operation time, early complications were collected, and the patients' social and mental health, breast satisfaction and chest function before and after the operation were assessed with the BREAST-Q questionnaire. Results    All the patients had unicentric tumor with a mean diameter of 2.4 (0.6-4.7) cm. The mean distance from the tumor to the nipple was 2.5 (2-4) cm. There were 2 patients with tumor stage 0 and 7 patients with stageⅠ. The mean operation time was 161.1 (125-201) min, the mean blood loss was 41.1 mL and the hospital stay time was 1.5 d. There were 5 patients in the day-care unit. All the patients were successfully followed up with a median follow-up time of 1 (1-2) month. One (11.1%) patient with depigmentation of the nipple-areola complex caused by mild ischemia. None of the patients had incision complications, subcutaneous emphysema, hematoma, infection, nipple-areola or skin flaps necrosis, implant loss. During the follow-up period, no local/regional recurrence or distant metastasis was found. Chest well-being was decreased in the first month after the surgery compared with preoperative status, and the difference was statistically significant (P=0.001). There was no statistical difference in the breast satisfaction or psychosocial function scores between pre- and post-operation (P>0.05). Conclusion    E-NSM and immediate pre-pectoral implant-based BR with TiLoop Bra via single axillary incision has minimal trauma, rapid postoperative recovery, short operation time, few early complications and good early cosmetic effect, and the short-term result is satisfactory.

Objective:To prospectively assess clinical characteristics, potential causes and prognosis in patients with persistent inflammation, immunosuppression and catabolism syndrome (PICS) after polytrauma.Methods:Totally 1 083 patients with polytrauma admitted to Department of Traumatic Surgery of Tongji Hospital from Janury 2019 to July 2020 were enrolled. Exclusion criteria included age<18 years old, length of hospital stay<15 days, previous medical history of malignancy, or immunological, consumptive, and metabolic diseases. According to the diagnostic criteria of PICS, all enrolled patients were divided into two groups: PICS group and N-PICS group (without PICS). The patient’s clinical characteristics, ISS score, GCS score, SOFA score, and prognosis were collected. The χ2 test or Student’s t test was uesd to compare the difference between the PICS group and N-PICS group. Results:The incidence of PICS in patients with polytrauma was 11.7% (127/1 083). The majority of PICS patients were middle-aged and elderly men, 68.5% with traumatic brain injury and 59% with thoracic injury. GCS score was significantly lower, while ISS, APACHE II and SOFA scores were significantly higher in the PICS group than in the N-PICS group ( P<0.01, P<0.05). Among PICS patients, 79.5% were treated with mechanical ventilation and 76.3% were associated with pulmonary infection, with a 28-day mortality of 5.5% and a 180-day mortality of 16.5%, which were siginifcantly different from those without PICS. Conclusions:PICS has a high incidence after polytrauma and is commonly seen in middle-aged and elderly male patients with severe polytrauma, especially accompanied by traumatic brain injury or/and thoracic injury. Patients with PICS after polytrauma have poor long-term prognosis, so early identification and intervention should be strengthened in clinical practice.