The Analysis of Clinical Features of 186 Cases of Tuberous Sclerosis Complex-Associated Renal Angiomyolipoma / 罕见病研究

ObjectiveTuberous sclerosis complex (TSC) is a rare autosomal dominant genetic disease involving multiple organ system. Renal angiomyolipoma (RAML) is a leading cause of death for adult TSC patients. Our study aims at investigating the clinical manifestations of TSC-RAML to enable clinicians to have a better understanding of the disease in Chinese patients.MethodsWe reviewed retrospectively the data collected from patients with TSC-RAML in Peking Union Medical College Hospital from January 2014 to January 2023. We also collected information about the age, gender, imageological examination, RAML stage, and comorbidities.ResultsA total of 186 TSC-RAML patients were registered, 65 of whom were males and 121 were females(male-to-female ratio 1∶1.86). The median age of all patients was 31 years old. Totally, 117 cases (62.9%)of RAML were rated stage 6. Twenty-two cases (11.8%) had a history of tumor rupture and bleeding. Research shows statistical differences between high and low grade on RAML rupture bleeding(P=0.0475). Angiofibromas/fibrous cephalic plaque (155/186, 83.3%), subependymal nodules(103/146, 70.5%), lymphangioleiomyomatosis (102/157, 65.0%), hypomelanotic macules (114/186, 61.3%), and shagreen patch (83/186, 44.6%)were the most common clinical manifestations. All patients with lymphangioleiomyomatosis(LAM) were female(P < 0.0001).ConclusionsFemale patients predominated TSC-RAML patients. Most RAML were in stage 6. About 11.8% cases had a history of tumor rupture and hemorrhage. The higher grade meant the higher proportion of tumor rupture and hemorrhage. Dermatological and nervous lesions were the most common comorbidities. All patients with LAM in this study were female.

Study of Triptolide on Liver Injury and Detoxification Strategy / 中国实验方剂学杂志

As a commonly used traditional Chinese medicine in clinical practice， Tripterygium wilfordii has the functions of dispelling wind and removing dampness， detoxicating and destroying parasites， detumescence， pain relief， promoting blood circulation， and dredging collateral. Modern pharmacological studies show that it also has other functions such as anticancer， anti-inflammation， and immunosuppression. It has been widely used to treat autoimmune diseases， renal diseases， and tumors. T. wilfordii contains a variety of chemical components， among which triptolide （TP） can cause varying degrees of damage to human digestive， circulatory， reproductive， and other systems， with liver injury being the most common one， which greatly limits the development of TP in new drug research and industrial application. Therefore， the authors focused on the research hotspot of TP-induced liver injury and summarized relevant Chinese and international literature regarding the clinical manifestations， injury mechanisms， and detoxification strategies of TP-induced liver injury. This helps to provide a scientific basis for the clinical drug safety and scientific drug supervision of TP. The clinical manifestations of TP-induced liver injury are mostly abnormal transaminases， loss of appetite， nausea and vomiting， anorexia， yellow staining of skin and sclera， and yellow urine. The mechanisms of the above clinical manifestations involve apoptosis， oxidative stress， influence on cytochrome P450 superfamily， macrophage polarization， regulation of biological clock gene Clock， etc. Among them， cell apoptosis is related to neurogenic locus notch homolog protein 1 （Notch1）， dynamin-related protein 1 （Drp1）-cytochrome C （Cyt C）， phosphatidylinositide 3-kinases （PI3K）/protein kinase B （Akt）， mitogen-activated protein kinase （MAPK）， tumor suppressor protein 53 （p53）， Fas cell surface death receptor （Fas）/Caspase-8， and other signaling pathways. Oxidative stress is related to inhibition of nuclear factor-erythroid 2-related factor 2 （NRF2） signaling pathway， promotion of cytochrome P450 2E1 （CYP2E1） expression， and excessive accumulation of reactive oxygen （ROS）. The influence of the cytochrome P450 superfamily is manifested as reducing the substrate affinity， activity， and expression of cytochrome P450 3A （CYP3A）， cytochrome P450 2C9 （CYP2C9）， cytochrome P450 2C19 （CYP2C19）， and cytochrome P450 1A2 （CYP1A2）. Promoting the transformation of macrophages into the M1 type is related to the secretion of inflammatory factors and the accumulation of endotoxin， and the internal rhythmic regulation of the biological clock gene Clock， is related to the expression of cytochrome P450 3A11 （CYP3A11） metabolic enzyme. The detoxification strategies in the clinical application include herbs-processing detoxification strategy and drug-pairing detoxification. The traditional Chinese medicines and monomers that are helpful for detoxification include Glycyrrhiza uralensis， Paeonia lactiflora， Lysimachia christinae， Rehmannia glutinosa， saffron， and paeoniflorin. The reviews and discussion about these topics can help to provide more references for related research and clinical application of TP.

Clinical characteristics and influencing factors of chronic obstructive pulmonary disease in patients with non-small cell lung cancer in Hubei province / 公共卫生与预防医学

Objective To analyze the clinical characteristics and influencing factors of non-small cell lung cancer (NSCLC) patients with chronic obstructive pulmonary disease (COPD) in Hubei province, and to provide a theoretical basis for the diagnosis and treatment of NSCLC patients with COPD. Methods A total of 246 NSCLC patients admitted to our hospital from 2018 to 2020 were selected and divided into control group (without COPD, n=125) and observation group (with COPD, n=121) according to COPD. The clinical characteristics of chest pain, hemoptysis, emasculation, atelectasis and pleural effusion were compared between the two groups. The values of FEV1/FVC, RV/TLC and DLCO in the two groups were measured by pulmonary function detector. The age, gender, smoking, smoking history, proportion of lung squamous cell carcinoma, TNM stage and other clinical data of all subjects were analyzed by self-made survey scale of our hospital. Univariate analysis and logistic regression were used to analyze the risk factors of COPD in NSCLC patients. Results Among 246 NSCLC patients, 121 patients (49.19%) were complicated with COPD, including 76 males and 45 females, and there was a statistical difference between the two groups (χ2=4.891, P>0.05). The average age of the observation group (61.02±4.82) was significantly higher than that of the control group (59.76±4.73) (t=2.069, P0.05). Male (OR=2.982), smoking history (OR=2.623) and lung squamous cell carcinoma (OR=3.147) were risk factors for COPD in NSCLC patients (P<0.05). Conclusions NSCLC patients with COPD are more common in male smokers in Hubei Province, often accompanied by pleural effusion , severe hemoptysis and other symptoms , and their lung function is decreased. Early detection and standardized treatment of COPD in the treatment of NSCLC can improve the prognosis of patients.

Bullous pemphigoid in India: Review of cases registered in an autoimmune bullous disease clinic

Background: Information on bullous pemphigoid in an Indian context is scarce. Aim: To report clinico-demographic profile, associated comorbidities and prescription pattern of bullous pemphigoid patients in India. Methods: This was a retrospective study, where past records of all bullous pemphigoid patients diagnosed and treated between November 2013 and October 2019 were accessed and analysed. Patients having a compatible clinical presentation with either histopathological and/or direct immunofluorescence evidence of bullous pemphigoid were included. Results: There were 96 bullous pemphigoid patients, with a male: female ratio of 1.6:1. The mean age at diagnosis was 62.5 ± 2.2 years, with mean duration of illness 27.5 ± 4.5 months before presentation. Comorbidities were present in 80 (83%) patients, with type 2 diabetes mellitus (38.5%), hypertension (36.4%) and neurological illness (16.7%) being the commonest ones. Clinically, blisters were the predominant presentation in 81 (84.4%) patients. The majority (87.5%) of patients showed a predominant eosinophilic infiltrate on histopathology. Direct immunofluorescence revealed immunoglobulin G deposits with complement C3 in 77 (80.2%) cases. The majority of patients (77.1%) were treated with oral prednisolone, either alone (11.5%) or in combination (65.6%) with other topical and systemic agents. Topical steroids were used in 29.1%, azathioprine in 28%, dapsone in 16.7% and omalizumab in 6.2% of patients. Limitations: The study is retrospective. Immunofluorescence on salt split skin, direct immunofluorescence serration pattern analysis, and immunoblotting were not performed. Hence, there is a possibility that a few included cases were suffering from other subepidermal autoimmune bullous diseases like epidermolysis bullosa acquisita or anti-p200 pemphigoid. Conclusion: Bullous pemphigoid patients in this study had a younger age of onset and showed male preponderance. Comorbidities like type 2 diabetes, hypertension and neurological disorders were freq

NARRATIVE REVIEW OF PSORIASIS: PATHOGENESIS, CLINICAL FEATURES AND MANAGEMENT STRATEGIES

Psoriasis is a chronic autoimmune disorder that affects approximately 2-3% of the global population. It is characterized by red, scaly, and itchy patches on the skin that can cause signicant discomfort and have a negative impact on patients' quality of life. Despite being a well-known condition, the pathogenesis of psoriasis remains poorly understood, and there is no cure for the disease. Therefore, the management of psoriasis primarily focuses on symptom relief and improving patients' quality of life. The epidemiology of psoriasis varies by geographic location, ethnicity, and age, with some studies suggesting a higher prevalence among certain populations. The most common subtype of psoriasis is plaque psoriasis, which is characterized by erythematous plaques covered with silvery scales. Other clinical subtypes include guttate psoriasis, pustular psoriasis, erythrodermic psoriasis, and inverse psoriasis. Each subtype has unique clinical features and requires specic management strategies. Epidemiological studies have identied several risk factors for psoriasis, including family history, smoking, obesity, and stress. The exact mechanisms by which these factors contribute to the development and progression of psoriasis are not fully understood. However, it is thought that genetic and environmental factors interact to disrupt the normal immune response and trigger the inammatory cascade that drives psoriasis pathogenesis

Epidemiological analysis of notifiable infectious diseases in preschool children in Pudong New Area of Shanghai in 2005-2021 / 公共卫生与预防医学

Objective　 To provide a scientific basis for the prevention and control of notifiable infectious diseases in preschool children, and to improve the service level of children's health management.　 Methods Infectious disease information was obtained from the Infectious Diseases Reporting Information System of Chinese Center for Disease Control and Prevention, and the number of permanent residents was obtained from Shanghai Statistical Yearbook. Excel 2019 was used to organize and calculate data and draw charts. Descriptive statistical methods were used for analyzing disease ranking and epidemic trends. Seasonal characteristics were calculated by concentration M value and circular distribution, α=0.05.　 Results　 In the reports of notifiable infectious diseases for preschool children, boys (60.93%) were significantly more than girls, and the largest number of children reported were 3-4 years old (43.19%). The unit with the largest number of reports was Shanghai Children's Medical Center (47.31%). The order of the diseases was hand, foot, and mouth disease (HFMD), chickenpox, mumps, scarlet fever, influenza, and infectious diarrhea. HFMD accounted for 73.52% of the total (46 541/63 304). The incidence of notifiable infectious diseases among preschool children had been increasing since 2005, reaching a peak in 2014, and then showing a downward trend overall. In the 17 years from 2005 to 2021, there were 3 years (2008, 2010, and 2018) with a concentration M value of 0.3-0.5, indicating that there was a certain seasonality, and one year (2020) with an M value of 0.5-0.7, indicating obvious seasonality. The peak of incidence mostly occurred from June to August.　 Conclusion 　It is suggested to strengthen the health guidance of HFMD in preschool children and increase the vaccination rate of HFMD vaccine to reduce the health harm of HFMD to preschool children. The prevention and control of COVID-19 has had an inhibitory effect on the occurrence of notifiable infectious diseases in preschool children.

Prediction of microvascular invasion in hepatocellular carcinoma with magnetic resonance imaging using models combining deep attention mechanism with clinical features / 南方医科大学学报

OBJECTIVE@#To investigate the consistency and diagnostic performance of magnetic resonance imaging (MRI) for detecting microvascular invasion (MVI) of hepatocellular carcinoma (HCC) and the validity of deep learning attention mechanisms and clinical features for MVI grade prediction.@*METHODS@#This retrospective study was conducted among 158 patients with HCC treated in Shunde Hospital Affiliated to Southern Medical University between January, 2017 and February, 2020. The imaging data and clinical data of the patients were collected to establish single sequence deep learning models and fusion models based on the EfficientNetB0 and attention modules. The imaging data included conventional MRI sequences (T1WI, T2WI, and DWI), enhanced MRI sequences (AP, PP, EP, and HBP) and synthesized MRI sequences (T1mapping-pre and T1mapping-20 min), and the high-risk areas of MVI were visualized using deep learning visualization techniques.@*RESULTS@#The fusion model based on T1mapping-20min sequence and clinical features outperformed other fusion models with an accuracy of 0.8376, a sensitivity of 0.8378, a specificity of 0.8702, and an AUC of 0.8501 for detecting MVI. The deep fusion models were also capable of displaying the high-risk areas of MVI.@*CONCLUSION@#The fusion models based on multiple MRI sequences can effectively detect MVI in patients with HCC, demonstrating the validity of deep learning algorithm that combines attention mechanism and clinical features for MVI grade prediction.

Spinal metastases combined with leptomeningeal metastasis: A case report / 北京大学学报(医学版)

Spinal metastases (SM) is the commonest form of solid tumors osseous metastasis, for which surgical dissection is often performed when combined with spinal cord compression. Leptomeningeal metastasis (LM) results from dissemination of cancer cells to both the leptomeninges (pia and arachnoid) and cerebrospinal fluid (CSF) compartment. The spread of LM may occur via multiple routes, such as hematogenous, direct infiltration from metastatic brain lesions, or via iatrogenic seeding of CSF. Signs and symptoms associated with LM are generalized and various while early diagnosis of LM is challenging. Cytological evaluation of the CSF and gadolinium enhanced MRI brain and spine is the gold standard for diagnosing LM and CSF can help assess treatment response. While a number of other potential CSF biomarkers have been investigated both for the diagnosis as well as monitoring of LM, none have been established as a component of the standard evaluation of all LM or suspected LM patients. Management goals of LM include improving patient's neurologic function, quality of life, preventing further neurologic deterioration and prolonging survival. In many cases, it may be reasonable to pursue a palliative and comfort focused course, even from the initial LM diagnosis. Surgery is not recommended considering the risk of seeding with cerebrospinal fluid. A diagnosis of LM carries a poor prognosis with an estimated median survival of only 2-4 months despite therapy. Spinal metastases combined with leptomeningeal metastasis (SM+LM) is not uncommon and its treatment is similar to LM. LM can appear at the same time as SM or directly invaded by SM, which is thought regarding the pathophysiology of LM remains speculative and not systematically studied. The present article reports a 58-year-old woman who was first diagnosed with SM, but worsened after surgery repeated MRI examinations confirmed coexisting LM. Relevant literature was reviewed to summarize the epidemiology, clinical manifestations, imaging characteristics, diagnosis and treatment of SM+LM, so as to improve the understanding of the disease and promote early diagnosis. It should be vigilant to merge LM for the patient with SM when atypical clinical manifestations, rapid disease progression or inconsistent with imaging occurred. Repeated examinations of cerebrospinal fluid cytology and enhanced MRI should be considered when SM+LM is suspected to achieve timely adjustment of diagnosis and treatment strategy for better prognosis.

Correlation between Peripheral Blood PLR with Treg, Th17 in Newly Diagnosed Multiple Myeloma and Its Influence on Prognosis / 中国实验血液学杂志

OBJECTIVE@#To investigate the correlation of peripheral blood platelet/lymphocyte ratio (PLR) with Treg and Th17 and its influence on prognosis in newly diagnosed multiple myeloma (MM).@*METHODS@#One hundred thirty-five newly diagnosed multiple myeloma patients admitted to the Department of Hematology of Zhengzhou People's Hospital from June 2015 to October 2022 were selected as MM group. Clinical data included sex, age, immune typing, ISS stage, blood calcium (Ca), albumin (ALB), hemoglobin (Hb), PLR, LDH, β2 microglobulin (β2-MG), Treg and Th17 levels. Sixty healthy volunteers who underwent physical examination in our hospital during the same period were selected as the control group. PLR, Treg and Th17 levels in MM group and control group were compared. Pearson was used to analyze the correlation between PLR and Treg, Th17. The relationship between MM patients with different PLR and clinical features and prognosis was analyzed.@*RESULTS@#The PLR and Th17 of MM patients were significantly higher than that of control group, and Treg was significantly lower than that of control group (P<0.05). In MM patients, PLR was negatively correlated with Treg (r=-0.616), and PLR was positively correlated with Th17 (r=0.555). Using mean PLR=132.72 as the boundary, 135 MM patients were divided into high PLR group (n=54) and low PLR group (n=81). In MM patients with high PLR, ISS stage, ALB and Treg were significantly higher than those in low PLR group, while Th17 was significantly lower than those in low PLR group (P<0.05). By univariate and COX regression analysis, PLR was an independent prognostic risk factor for newly diagnosed MM patients (P<0.05). MM patients with high PLR had better PFS and OS, and the difference was statistically significant compared with MM patients with low PLR (P<0.05). 65 patients admitted from June 2015 to December 2018 were used as the training set, and 70 patients admitted from January 2019 to October 2022 were used as the validation set. The OS of MM patients with different PLR were compared respectively. The results showed that the conclusions of the training set and the validation set were consistent. PLR with high expression had higher OS (P<0.01).@*CONCLUSION@#PLR is correlated with Treg and Th17 in newly diagnosed MM patients, and high PLR has better prognosis. PLR can be used to evaluate the prognosis of MM patients.

Clinical Features and Outcomes of the Patients with B-Cell Chronic Lymphoproliferative Disease in the New Drug Era / 中国实验血液学杂志

OBJECTIVE@#To analyze the clinical characteristics of the patients with B-cell chronic lymphoproliferative disease（B-CLPD） in the new drug era and the effect of new drug treatment on efficacy and survival.@*METHODS@#The clinical and laboratory data of 200 cases B-CLPD patients diagnosed between April 2015 and August 2021 were analyzed retrospectively. The clinical efficacy and survival of the patients under different treatments including Bruton tyrosine kinase（BTK） inhibitors， rituximab， and chemotherapy alone were analyzed. The prognostic factors affecting the survival of patients were analyzed by univarite analysis and multivariate analysis.@*RESULTS@#There were 119 male（59.5％） and 81 female（40.5%） in 200 cases B-CLPD patients， the sex ratio(male/female) was 1.5∶1 with median age of 61（30- 91） years old. The distribution of subtypes were as fallows: 51 cases (25.5%) of chronic lymphocytic leukemia/small lymphocytic lymphoma（CLL/SLL）， 64（32.0%） cases of follicular lymphoma（FL）， 40（20.0%） cases mantle cell lymphoma（MCL）， 30（15.0%） cases of marginal zone lymphoma（MZL）， 10（5%） cases of lymphoplasmacytic lymphoma/waldenstrom macroglobulinemia（LPL/WM）， 5（2.5%） cases of B cell chronic lymphoproliferative disorders unclassified（B-CLPD-U） . The main clinical manifestation of 102 patients was lymph node enlargement, 32 cases were complicated with B symptoms. Among CLL/SLL patients， there were 12（23.5%） cases in Binet A and 39（76.5%） cases in Binet B/C. There were 29 patients（20.9%） in Ann Arbor or Lugano stage I-II and 110 cases（79.1%） in stage III-IV of other subtypes. The complete remission（CR） rate was 43.1%（25/58）， 40.2%（39/97）， 7.1%（1/14）， and overaIl response rate（ORR） was 87.9%（51/58）， 62.9%（61/97）， 28.6%（4/14） in the groups of BTK inhibitors， rituximab-based therapy， and chemotherapy alone. The 3-year OS rate and PFS rate in all patients was 79.2% and 72.4% respectively. The 3-year OS rate of patient with MZL, CLL/SLL, FL,WM was 94.7%, 87.7%, 86.8% and 83.3% respectively, while the 3-year OS rate of MCL was only 40.6%, which was significantly lower than other subtypes. The median OS of patients treated with BTK inhibitors and rituximab-based therapy was 20.5 and 18.5 months respectively， and the 3-year OS rate was 97.4% and 90.7%. However， the median PFS of patients receiving chemotherapy alone was 4 months， and the 1-year OS rate was 52.7%， which was statistically significant compared with the other two groups（P<0.05）. Univarite analysis showed that anemia， elevated lactate dehydrogenase， elevated β2-microglobulin， and splenomegaly were the poor prognostic factors for OS（P<0.05）， elevated lactate dehydrogenase was also poor prognostic factors for PFS（P<0.05）. Multifactor analysis showed that anemia and elevated lactate dehydrogenase were the independent poor prognostic factors for survival（P<0.05）.@*CONCLUSION@#The clinical features of B-CLPD was various， anemia and elevated lactate dehydrogenase are the prognostic factors for poor survival. BTK inhibitors and new immunotherapy can improve the survival and prognosis of patients in the new drug era.

Clinical characteristics and meteorological factors of patients with chronic heart failure in Qinghai plateau area / 公共卫生与预防医学

Objective To analyze the clinical characteristics and meteorological factors of patients with chronic heart failure (CHF) in Qinghai Plateau area, and to provide a theoretical basis for the diagnosis and treatment of patients with chronic heart failure. Methods A total of 356 patients with CHF admitted to our hospital in Qinghai Plateau area from 2019 to 2020 were selected, and the number of cases, age, gender, comorbidity, NYHA cardiac function classification of CHF patients in Qinghai Plateau area from 2019 to 2020 were counted. To compare NYHA cardiac function classification and underlying diseases in CHF patients at different ages and altitudes in Qinghai Plateau area. The daily average temperature (℃), daily temperature and daily range (℃), daily average wind speed (m/s), daily average air pressure (kPa) and daily average relative humidity (%) in Qinghai Plateau from 2019 to 2020 were collected. According to the general clinical data of patients, the changes of the monthly incidence of CHF patients were analyzed. Pearson correlation analysis was used to compare the correlation between the monthly incidence of CHF patients and meteorological factors, and to explore the influence of meteorological factors on the incidence of CHD in Qinghai Plateau. Results Among the 356 CHF patients, there were 181 males and 175 females, with an average age of (72.47 ±6.49) years old. The NYHA classification of cardiac function was grade II in 103 cases, grade ⅲ in 198 cases, and grade ⅳ in 55 cases. NYHA cardiac function classification increased with age, and there was significant difference in NYHA cardiac function classification among CHF patients of different ages (P<0.05). Among 356 CHF patients, 91 cases (25.56%) were complicated with hypertension, 63 cases (17.70%) were complicated with coronary heart disease, 57 cases (16.01%) were complicated with diabetes, and 40 cases (11.24%) were complicated with hypergenic heart disease. 25 cases (7.02%) were complicated with heart valve disease. Hypertension, coronary heart disease, diabetes mellitus, hypergenic heart disease and valvular heart disease increased with age, and there were statistically significant differences between CHF patients with different ages and underlying diseases (P<0.05). CHF patients in Qinghai Plateau region were mainly concentrated in January-March and October-December. Taking the number of CHD admissions as the dependent variable and each meteorological factor as the independent variable, the correlation between each factor was compared. The results showed that the number of CHF cases was positively correlated with the daily temperature range and daily mean air pressure, and negatively correlated with the average daily temperature (P<0.05). Daily temperature range (OR=2.61) and daily mean air pressure (OR=1.89) were independent risk factors for CHF in Qinghai Plateau area (P<0.05). Conclusion CHF is more prevalent in elderly people in high altitude areas in Qinghai Plateau. For months with high temperature changes, wind speed, we should pay attention to weather changes and take preventive measures in advance.

Analysis of clinical manifestations and imaging features of bullous retinal detachment / 中华眼底病杂志

Objective:To investigate and analyze the clinical manifestations and imaging features of the eyes with bullous retinal detachment.Methods:Retrospective case series study. Eleven eyes of 11 patients with bullous retinal detachment diagnosed in Department of Ophthalmology, Peking University People's Hospital from July 2015 to September 2021 were enrolled. There were 10 males and 1 female, with the mean age of (39.27±6.81) years. All patients had monocular bullous retinal detachment, with mean duration ranged from 3 months to 14 years. The basic information and medical history of all patients were collected. All patients underwent best corrected visual acuity (BCVA), indirect ophthalmoscopy, color fundus photography, optical coherence tomography (OCT), fundus fluorescein angiography (FFA), indocyanine green angiography (ICGA) and B-scan ultrasonography. BCVA was performed using a standard logarithmic visual acuity chart, which was converted to logarithm of the minimum angle of resolution (logMAR) visual acuity. The clinical data and imaging features of BCVA, OCT, FFA and ICGA were retrospectively analyzed and summarized.Results:The mean logMAR BCVA of the 11 eyes was 0.91±0.45. Nine patients had bilateral disease, but bullous retinal detachment occurred in only 1 eye, and CSC manifestations were present in the contralateral eye. Six patients had received systemic or topical hormone therapy prior to onset. Yellowish-white material was observed in 6 eyes and retinal folds were observed in 5 eyes. OCT examination showed serous retinal detachment in the macular area with granular or patchy hyperreflective signals in the subretinal area in all eyes, and a few granular hyperreflective substances in the neuroretina in 6 eyes. Neuroretina cystoid degeneration was observed in 6 eyes, adhesion between the detached neuroretina and retinal pigment epithelial (RPE) was observed in 6 eyes, RPE tear was observed in 6 eyes, and different forms of retinal pigment epithelial detachment (PED) were observed in 6 eyes. FFA showed multiple fluorescence leakage spots in 10 eyes, and the average number of fluorescence leakage spots in all eyes was 3.82±2.44. There were multiple diffuse RPE lesions in 9 eyes. The results of ICGA examination showed that choroidal vessels were dilated and multiple hyperfluorescent leaks were observed in all eyes. B-scan ultrasonography examination of all affected eyes showed retinal detachment. Retinal reattachment can be achieved at (2.0±1.0) months after photodynamic therapy (PDT), while SRF can be completely absorbed at (2.36±0.81) months. The mean logMAR BCVA can be improved to 0.50±0.33, and no recurrence was found in the follow-up period up to 6 months.Conclusions:Bullous retinal detachment is often associated with the use of hormones, while yellow-white material in the subretina and hyperreflective material in the OCT are common. It is characterized by neuroretina cystoid degeneration in the macular area, adhesion between the neuroretina and RPE, RPE tear and PED, with multiple fluorescence leakage spots and diffuse RPE lesions. PDT is an effective treatment for bullous retinal detachment.

Clinical and fundus imaging features of acute macular neuroretinopathy associated with COVID-19 / 中华眼底病杂志

Objective:To observe the clinical and fundus imaging features of acute macular neuroretinopathy (AMN) associated with COVID-19.Methods:A retrospective case study. A total of 32 eyes of 18 patients diagnosed of AMN associated with COVID-19 at Chengdu Aidi Eye Hospital from December 2022 to February 2023 were included. All patients had a history of fever 1 to 5 days prior to ocular onset and tested positive for SARS CoV-2 antigen. All patients were examined by best-corrected visual acuity (BCVA), color fundus photography, scanning laser ophthalmoscope (SLO), infrared fundus photography (IR), and optical coherence tomography (OCT); OCT angiography, visual field and multifocal electroretinogram (mf-ERG) were performed in 6 patients (11 eyes), 3 patients (6 eyes) and 1 patient (2 eyes), respectively. Follow-up time was 8-10 weeks. The clinical and fundus imaging features were observed and analyzed.Results:There were 6 males (12 eyes) and 12 females (20 eyes), aged from 15 to 36 years, with the mean age of (28.00±5.86) years. Fourteen patients were bilateral and 4 patients were unilateral. The time from the onset of eye symptoms to seeing a doctor was ranged from 1 day to 8 weeks. Among them, 6 patients (10 eyes) visited the doctor within 3 days of onset, while 12 patients (22 eyes) visited the doctor after 3 days of onset. The BCVA was 0.80±0.29. Fundus color photography and SLO examination showed that only 2 patients (4 eyes) showed sheet or petal-like dark red lesions in the macular area, and no obvious abnormal changes were observed in other patients. No obvious abnormalities were found in AF examination of all patients. IR examination showed no significant abnormality in 6 cases which came to hospital within 3 days after the onset, but irregular hyporeflective dark shadow lesions in the macular region of patients with more than 3-day course of disease was observed. OCT examinations of all eyes showed hyperreflective band or patchy lesion on the outer plexiform layer (OPL) and outer nuclear layer (ONL) and affect the ellipsoid zone (EZ) and interdigitation zone (IZ). In 11 eyes of 6 patients undergoing OCTA examination, the blood flow density of the choroidal capillary layer in the focal area decreased. In 6 eyes of 3 patients who underwent visual field examination, the physiologic scotoma was slightly enlarged. One patient (2 eyes) receiving mf-ERG showed a concave reduction in macular center amplitude. The hyperreflective band lesion on OPL and ONL disappear rapidly within 2 weeks, while the continuity of EZ recovered slowly, and the disruption of IZ kept existing for more than 10 weeks.Conclusions:Most AMN associated with COVID-19 are young women; IR showed irregular weak reflex in the lesion area. OCT showed strong OPL and ONL reflection. OCTA was characterized by decreased blood flow density in the choroidal capillary layer of the focal area.

Clinical features and treatment of glaucoma secondary to familial exudative vitreoretinopathy / 中华眼底病杂志

Objective:To investigate the etiology, clinical features and treatment of familial exudative vitreoretinopathy (FEVR) secondary glaucoma.Methods:A retrospective clinical study. From January 1, 2016 to January 1, 2022, 15 patients (17 eyes) were diagnosed with FEVR secondary glaucoma in Beijing Tongren Hospital, Capital Medical University were included in the study. All patients underwent systematic ophthalmological evaluation. According to the patient's age, visual acuity, intraocular pressure, anterior segment, vitreous body and retina condition, the choice of translimbal lensectomy combined with vitrectomy, goniectomy, cyclophotocoagulation, intravitreal injection of anti-vascular endothelial growth factor (VEGF) treatment were chosen. The follow-up time was 3 to 37 months. The clinical characteristics of the affected eye, and the changes of intraocular pressure, anterior chamber depth and complications after surgery were observed.Results:Among the 15 patients, there were 11 males with 13 eyes, and 4 females with 4 eyes. Age was 6.14±7.37 years old. FEVR stages 2B, 3B, 4A, 4B, 5A, and 5B were 1, 1, 5, 6, 3, and 1 eye, respectively. The intraocular pressure of the affected eye was 42.74±9.06 mm Hg (1 mm Hg=0.133 kPa). All eyes had shallow anterior chamber and angle closure, anterior or posterior iris adhesions, lens opacity, retinal detachment, iris neovascularization in 4 eyes, and vitreous hemorrhage in 2 eyes. Sixteen eyes were treated with translimbal lensectomy combined with vitrectomy and goniotomy, of which 8 eyes were treated with anti-VEGF treatment; 1 eye was treated with cyclophotocoagulation combined with anti-VEGF treatment. After operation, the intraocular pressure of 16 eyes returned to normal range, and the depth of anterior chamber of 16 eyes returned to normal, and no obvious complications occurred.Conclusions:The main etiology of secondary glaucoma in FEVR is the structural and functional abnormalities of the anterior chamber and angle, which are found in the 2B and above stages of FEVR. The lensectomy and vitrectomy via limbal approach can effectively control the intraocular pressure and restore the anterior chamber, with no serious complications.

Gender-related differences of clinical features and perioperative treatment outcomes in patients with type A aortic dissection / 中华胸心血管外科杂志

Objective:To retrospectively analyze the gender differences in the clinical characteristics and perioperative outcomes of patients with type A aortic dissection in our institution.Methods:From January 2019 to January 2020, total 405 patients underwent surgical treatment for type A aortic dissection at Beijing Anzhen Hospital, including extensive aortic repair (total aortic arch replacement combined with stenting elephant trunk implantation) and limited aortic repair. In the entire cohort, male 295 cases, female 110 cases. All measures in this study were expressed as ± s or median(quartiles) and analyzed by Student t test for variables or non- parametric tests; count data were expressed as frequencies and percentages and analyzed by χ2 test and Fisher exact probability test. Independent risk factors were analyzed by logistic multivariate regression. Results:Females were older than males[(53.3 ± 12.4)years old vs. (47.1 ± 11.0)years old, P<0.001] and had significantly higher proportion of diabetes(9.1% vs. 4.1%, P=0.047) and previous cerebrovascular disease (11.8% vs. 5.8%, P=0.038). Females had a lower proportion of total aortic arch replacement combined with elephant trunk implantation (64.5% vs. 82.7%, P<0.001), while aortic cross-clamp time[168.0(144.8, 201.5) minutes vs. 190.0 (163.0, 217.0) minutes, P<0.001] and CPB time[99.0 (79.8, 118.0) min vs. 107.0 (91.0, 126.0) min, P=0.006] were significantly shorter than males. Females had significantly higher rates of pulmonary infection (14.5% vs. 5.8%, P=0.004) and stroke than males (15.5% vs. 8.1%, P=0.030). The difference in the proportion of postoperative deaths between female and male TAAD patients was not statistically significant (3.6% vs. 7.8%). Logistics multivariable regression analysis found that female was an independent risk factor for postoperative stroke ( OR=2.574, 95% CI: 1.198-5.531, P=0.015) and pulmonary infection ( OR=2.610, 95% CI: 1.180-5.772, P=0.018). Conclusion:Gender did not affect mortality after TAAD repair significantly, but females increased the risk of stroke and pulmonary infection after TAAD surgery.

A pilot study on the clinical characteristics of blood pressure circadian rhythm disorder and its impact on orthostatic hypotension in Parkinson′s disease / 中华神经科杂志

Objective:To investigate the clinical characteristics of circadian rhythm disorder of blood pressure and its impact on orthostatic hypotension (OH) in Parkinson′s disease (PD).Methods:A total of 165 PD patients from Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine from August 2019 to October 2021 were consecutively enrolled. Medical history and scores of motor and non-motor symptoms of patients were collected. Twenty-four-hour ambulatory blood pressure and OH data were collected, and the OH questionnaire was completed. The incidence of each type of circadian rhythm disorder of blood pressure was investigated. The t test, chi-square test and Mann-Whitney U test were used to determine between-group differences of circadian rhythm disorder of blood pressure. The linear trends in clinical characteristics were tested by linear regression analysis. Logistic regression analysis was used to analyze the relationship between different circadian rhythm disorders of blood pressure and OH as well as symptomatic OH (SOH). Results:In 165 PD patients, the incidence of reverse dipping pattern was 39.39% (65/165), nocturnal hypertension was 43.64% (72/165), and awakening hypotension was 31.52% (52/165). Compared with patients without reverse dipping pattern, patients with reverse dipping pattern were older [(71.72±7.81) years vs (65.29±9.68) years, t=-4.491, P<0.001], had later onset age [(66.67±9.10) years vs (62.16±10.66) years, t=-2.809, P=0.006], longer duration [36.00(20.50, 95.50) months vs 24.00(12.00, 41.75) months, Z=-3.393, P<0.001], higher dose of levodopa (LD) [(426.15±267.38) mg/d vs (284.00±235.58) mg/d, t=-3.590, P<0.001], higher levodopa equivalent dose (LED) [(514.80±360.03) mg/d vs (341.44±284.57) mg/d, t=-3.440, P=0.001], higher Unified Parkinson′s Disease Rating Scale (UPDRS)-Ⅱ scores (12.92±6.38 vs 9.54±5.59, t=-3.434, P=0.001), higher UPDRS-Ⅲ scores (28.34±11.60 vs 21.41±12.18, t=-3.508, P=0.001) and higher percentages of hallucinations [18.46% (12/65) vs 7.00% (7/100), χ2 =5.079, P=0.024]. Compared with patients without awakening hypotension, patients with awakening hypotension were older [(70.83±7.09) years vs (66.44±10.16) years, t=-2.811, P=0.006]. Compared with patients without nocturnal hypertension, patients with nocturnal hypertension had longer duration [39.50(15.00, 96.00) months vs 24.00 (12.00, 36.00) months, Z=-2.944, P=0.003], higher LD [(398.61±251.19) mg/d vs (294.62±254.25) mg/d, t=-2.619, P=0.010], higher LED [(493.28±344.02) mg/d vs (345.05±298.59) mg/d, t=-2.959, P=0.004], higher percentages of hallucinations [19.44% (14/72) vs 5.38% (5/93), χ2 =7.882, P=0.005], higher UPDRS-Ⅱ scores (12.08±6.33 vs 10.00±5.86, t=-2.086, P=0.039), higher UPDRS-Ⅲ scores (26.50±11.72 vs 22.42±12.66, t=-2.034, P=0.044), and greater blood pressure variability (BPV) (20.66±5.47 vs 17.44±5.36, t=-3.798, P<0.001). Trend analysis showed that the variety of circadian rhythm was positively correlated with age and duration, use of levodopa and monoamine oxidase B inhibitors and amantidine, morning and daily LD and LED, UPDRS-Ⅱ, UPDRS-Ⅲ and Hamilton Anxiety Scale scores, hallucinations, OH and SOH, and BPV in PD ( P<0.05). Multivariate Logistic regression analysis showed that awakening hypotension ( OR=3.35, 95% CI 1.55-7.22, P=0.002) and nocturnal hypertension ( OR=2.44, 95% CI 1.20-4.97, P=0.014) were risk factors for OH, and LED ( OR=1.21, 95% CI 1.01-1.43, P=0.035), UPDRS-Ⅲ scores ( OR=1.09, 95% CI 1.02-1.16, P=0.009) and w-BPV ( OR=1.14, 95% CI 1.01-1.29, P=0.029) were independent risk factors for SOH. Conclusions:Circadian rhythm disorder of blood pressure was correlated with age, duration, severity of motor symptoms. Awakening hypotension and nocturnal hypertension are independent risk factors for OH in PD.

Clinical analysis of 6 cases with factor Ⅴ deficiency / 中华全科医师杂志

Six patients with factor Ⅴ deficiency were admitted in Shandong Provincial Hospital Affiliated to Shandong First Medical University from January 2006 to December 2022. All 6 patients presented with symptoms of coagulation dysfunction, 4 patients had recurrent nose bleeding, gingival bleeding, skin ecchymosis as the main manifestations, 1 patient had lower abdominal pain and ovarian active bleeding, and 1 patient had heavy menstruation. The prothrombin time and activated partial thromboplastin time were significantly prolonged, the factor Ⅴ level was significantly lower than normal, and the thrombin time was basically normal in all patients. Four patients received non-surgical treatment and transfusion of fresh frozen plasma; the bleeding symptoms were significantly relieved during hospitalization, and no aggravation of bleeding symptoms was found during follow-up. One patient with active ovarian hemorrhage underwent emergency surgical suture to stop bleeding, and fresh frozen plasma and prothrombin complex were given perioperatively; and no more bleeding occurred during follow-up. One patients with excessive menstruation underwent curettage plus hysteroscopic endometrial ablation, and the amount of menstruation was significantly reduced. It is suggested that the bleeding symptoms of coagulation factor Ⅴ deficiency vary in severity, which can be effectively alleviated by infusion of the fresh frozen plasma in most cases.

Clinical analysis of 12 cases of invasive Klebsiella pneumoniae liver abscess syndrome / 中华全科医师杂志

Objective:To analyze the clinical features of patients with invasive Klebsiella pneumoniae liver abscess syndrome (IKLAS). Methods:The clinical data of 12 patients diagnosed as IKLAS in Zhuzhou Central Hospital from January 2020 to January 2023 were retrospectively analyzed.Results:Among 12 patients there were 6 males and 6 females with an mean age of 65.3±12.2 years (49-90). Nine patients were complicated with type 2 diabetes. The main clinical manifestations were fever ( n=9), chill ( n=6), shiver ( n=4), nausea and vomiting ( n=2), upper abdominal pain ( n=2), fatigue and anepithymia ( n=2), cough and expectoration ( n=1), disturbance of consciousness ( n=1) and hemoptysis ( n=1). The leukocyte count was increased in 8 cases, lymphocyte count decreased in 10 cases, and platelets count decreased in 3 cases. C-reactive protein and procalcitonin levels were elevated, while serum albumin levels were lowered in all patients. The alanine aminotransferase (ALT) and aspartate aminotransferase (AST) were increased in 7 cases each. Liver abscess was located in the right lobe in 8 cases, in the left lobe in 1 cases, and in both lobes in 3 cases. There were 7 patients with single abscess, and 5 patients with multiple abscesses. The etiology was confirmed by liver pus culture ( n=10) and blood culture ( n=5), respectively. The main sites of invasion were lung and blood stream ( n=10 and n=5, respectively). The majority of Klebsiella pneumoniae isolates were antibiotic sensitive strains and the overall drug resistance rate was relatively low. All patients were given antibiotics, and 10 of them also received liver abscess puncture drainage. After treatment, 11 patients were discharged, and 1 died of septic shock. Conclusions:Patients with IKLAS exhibit diverse clinical symptoms, most patients are complicated with diabetes, and the main sites of invasion are in the lungs and blood stream. Timely diagnosis, active screening of extrahepatic infection sites, effective drainage of abscess and appropriate antibiotic treatment can improve the survival of patients.

Clinical features and genetic variants of children with hepatic Wilson′s disease / 中华全科医师杂志

Objective:To analyze the clinical characteristics and genetic variants of children with hepatic Wilson disease (WD).Methods:The clinical data and genetic test results of 35 children, who were diagnosed as WD with primary hepatic manifestation in the Department of Gastroenterology, Children′s Hospital of Capital Institute of Pediatrics from March 2018 to March 2022, were retrospectively analyzed. The relationship between phenotype and genotype of patients was analyzed.Results:Among 35 children, there were 24 males and 11 females with a median age at diagnosis of 5.5 (4.0, 7.5) years. All patients had elevated transaminases. The elevated transaminases was found during routine physical examination in 33 cases (94.3%), in whom there was no fever, cough, recurrent vomiting, abdominal pain, diarrhea, jaundice, limb tremor, gait instability and other discomfort 2 weeks before admission, except 1 case with nausea; abdominal ultrasonography showed that 5 cases (15.2%) had no abnormality, and others had different degrees of hepatomegaly, splenomegaly, and echo enhancement in liver parenchyma. Among the remaining 2 cases, one 11-year-old child presented with edema, and had cirrhosis portal hypertension with esophageal varices; another 7-year-old child was diagnosed as acute liver failure manifested with nausea and jaundice. Thirty three patients(94.3%)had decreased serum ceruloplasmin levels (<100 mg/L); 24-h urinary copper concentration was>100 μg in 16 cases (45.7%) and<40 μg in 2 cases (5.7%). The tests of hepatitis B virus, hepatitis C virus, cytomegalovirus and EB virus were all negative in 35 children, and the autoimmune hepatitis antibodies were also negative. A total of 34 different ATP7B gene mutations were detected; the most frequent mutation was c.2333G>T (P.R778L) at exon 8, followed by c.2621C>T(p.A874V)at exon 11 and c.2621C>T(p.A874V)at exon 13. There was no significant difference in clinical phenotype between patients with nonsense mutation, frameshift mutation or splicing mutation and those with only missense mutations( Z=-1.00, t=-0.16, Z=-1.14, Z=-1.03,all P>0.05). Conclusions:The onset of WD in children is obscure, and clinicians should consider this disease in patients presenting with elevated transaminase. Ceruloplasmin and urine copper should be tested timely, the early diagnosis and treatment can improve the prognosis. And there is no significant correlation between genotype and clinical phenotype.

Adult acute promyelocytic leukemia with thrombosis as the first manifestation: a clinical analysis of 6 cases / 中华全科医师杂志

The clinical data of 6 acute promyelocytic leukemia (APL) patients with thrombosis as the first manifestation were retrospectively analyzed. Among 6 patients, 5 were males and 1 female.The median age at diagnosis was 55 years old. All patients had risk factors for cardiovascular disease (CVD), and 5 patients met the diagnostic criteria for disseminated intravascular coagulation (DIC). There were 3 patients at low risk (bcr1 subtype), 1 at intermediate risk (bcr2 subtype) and 2 at high risk (1 bcr3 subtype and 1 unknown). FLT3-ITD mutations were tested in 3 cases, all of whom showed negative results. Arterial thrombosis was found in all 6 cases, 4 cases had cerebral infarction, 1 had lower limb arterial embolism, and 1 had multiple arterial and venous thrombosis. Four patients with cerebral infarction received all-trans retinoic acid (ATRA) combined with arsenic trioxide (ATO)±chemotherapy and symptomatic treatment (1 patient at high risk did not receive ATRA), 2 patients achieved complete remission (CR), and the other 2 patients died of cerebral hemorrhage and cerebral infarction, respectively. One patient with lower extremity arterial thrombosis died suddenly within 12 h after admission likely due to acute myocardial infarction. One patient with mixed thrombosis received low molecular weight heparin and rivaroxaban successively after inferior vena cava filter implantation, and achieved CR after ATRA+ATO treatment. Thrombosis is a less common and under-recognized presentation in APL.Thrombosis patients with blood cells and/or coagulation abnormalities should consider the possibility of APL. APL patients complicated with thrombosis have a high probability of DIC and remain mostly intractable to existing treatments, who are at high risk of death and poor prognosis.