Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder primarily caused by pathogenic variants in the TSC1 or TSC2 genes. It is characterized by multisystem hamartomatous lesions and neuropsychiatric manifestations. Here we report a young male patient with TSC involving multiple organs, caused by a heterozygous frameshift mutation in TSC2 (c.2071delC, p.Arg691Alafs^*7). The patient initially presented with classic facial angiofibromas and hypomelanotic macules, and subsequently developed psychiatric and behavioral disturbances with auditory hallucinations. Neuroimaging revealed an intracranial mass lesion, which was confirmed as a subependymal giant cell astrocytoma on postoperative histopathology following surgery performed at an outside institution. After admission, the patient underwent a comprehensive diagnostic workup, and multidisciplinary treatment evaluation revealed extensive multisystem involve-ment, including the nervous system, skin, kidneys, lungs, heart, eyes, pancreas, liver and bones. Combined with relevant literature, this article discusses the molecular mechanisms, clinical phenotypes, and comprehensive management of TSC, in order to provide a reference for the standardized and individualized management of this disease.

Diabetes retinopathy (DR) is a blinding ocular complication of diabetes, and its pathological mechanism is complex. The damage to the retinal neurovascular unit (NVU) and the imbalance of its coupling mechanism are important pathological foundations. Autophagy plays an important role in the progression of DR. Oxidative stress, endoplasmic reticulum stress, hypoxia, and competitive endogenous RNA regulatory networks can affect the occurrence of autophagy, and autophagy induced cell death is crucial in NVU dysfunction. Retinal neurocyte are non-renewable cells, and adaptive autophagy targeting neuronal cells may provide a new direction for early vision rescue in patients with DR. It is necessary that exploring the possible autophagy interrelationships between ganglion cells, glial cells, and vascular constituent cells, searching for targeted specific cell autophagy inhibitors or activators, and exploring the impact of autophagy on the NVU complex more comprehensively at the overall level. Adopting different autophagy intervention methods at different stages of DR may be one promising research directions for future DR.

OBJECTIVE: This study aimed to explore the association between humidity exposure and the risk of cardiovascular disease (CVD), utilizing follow-up data and relative humidity (RH) metric assessments. METHODS: We extracted the baseline data from the China Hypertension Survey (CHS) of 24,510 enrolled participants aged ≥ 35 years without a history of CVD between 2012 and 2015 and followed them up from 2018 to 2019. The National Meteorological Information Center (NMIC) of the China Meteorological Administration (CMA) provided the quality-controlled relative humidity (RH) datasets. Cox proportional hazards models were used to estimate hazard ratios ( HRs) for CVD in relation to RH. RESULTS: During the follow-up period (2018-2019), 973 patients with CVD were identified. The HR of CVD risk was 1.17 (95% CI: 1.04-1.31) per 10% increase in summer mean RH. Compared with participants in the 3 ^rd quintile group, those in the 1 ^st and 5 ^th quintiles of RH had a higher risk of CVD. For summer mean RH, the HRs (95% CIs) for the 1 ^st and 5 ^th quintiles were 1.34 (1.04-1.71) and 1.44 (1.14-1.83), respectively. The relationship ("U" shape) between summer mean RH and the risk of CVD was nonlinear. Stratified analyses indicated that the risk of CVD was substantially influenced by the summer mean RH in female, older individuals, and those in southern China. CONCLUSION Unsuitable (too high or low) humidity environments affect the risk of CVD. Our study highlights those future policies for adapting to climate change should consider the humidity-CVD relationship.
Humans ; Humidity/adverse effects* ; Cardiovascular Diseases/etiology* ; Female ; Male ; Middle Aged ; Prospective Studies ; China/epidemiology* ; Adult ; Aged ; Risk Factors ; Proportional Hazards Models ; Seasons

Chronic kidney disease (CKD) is a serious health problem worldwide, whereas there is still no efficient cure. The gut microbiota plays a crucial role in maintaining human health and disease resistance, and multiple studies have confirmed that the gut microbiota is closely related to the occurrence and development of CKD. Starting from the "gut-kidney axis" theory, this article provides a systematic review of the changes in gut microbiota composition and function in patients with CKD, such as a decrease in the abundance of butyrate-producing bacteria Roseburia and Faecalibacterium prausnitzii. Besides that, the article explores the mechanisms by which the gut microbiota affects CKD progression, such as inflammation and immunity, and also describes the application methods of using the gut microbiota as a therapeutic target for CKD, such as fecal microbiota transplantation, microecologics, and dietary therapy, in order to provide microbial- based targets for the clinical diagnosis and treatment of CKD.

A 43-year-old female patient was admitted with recurrent thrombosis for more than 2 years and thrombocytopenia for more than 1 year. Both arterial and venous thromboses developed especially at rare sites even during anticoagulation therapy such as cerebral venous sinus thrombosis. Antinuclear antibody, anti-ENA antibody and antiphospholipid antibody were all negative. Platelet count elevated to normal after high dose glucocorticoid and intravenous immunoglobulin (IVIG). Immune thrombocytopenia was suspected. When 4 grade thrombocytopenia recurred, intravenous heparin, rituximab 600 mg, IVIG and eltrombopag were administrated. After 3 weeks, thrombocytopenia did not improve, and new thrombosis developed instead. Screening of thrombophilia related genes revealed PROS1 gene heterozygous mutation and MTHFR TT genotype. Low amount of serum IgG κ monoclonal protein was detected. Heparin-induced thrombocytopenia was differentiated and excluded. Finally, serum negative antiphospholipid syndrome was considered the most likely diagnosis. Dexamethasone 20 mg/day × 4 days combined with sirolimus 2 mg/day was prescribed. The patient was discharged with low molecular weight heparin. At one month, her headache was greatly relieved. The platelet count raised to 20-30×10 9/L, and no new thrombosis or bleeding was reported.

Conservative endodontic access cavity (CEC) is the first step of minimally invasive endodontics. After that operation, teeth retain the dental hard tissue, such as crest and peri-cervical dentin, to a large extent. It is of great significance to reduce the tissue excision and achieve a favorable prognosis. There are a variety of approaches and corresponding cavities in CEC. The methods to determine the medullary approach include X-ray localization, micro CT/cone beam CT localization and digital guide plate localization. Among them, X-ray film and micro CT/cone beam CT are simple and commonly used in the clinic. For more complex root canal systems, the use of a digital guide plate can establish a more accurate pulp opening pathway and reduce the unnecessary loss of tooth hard tissue. However, the positioning price of a digital guide plate is high, and it has not been widely used in the clinic. The hole types of CEC include minimally invasive medullary hole type, super conservative minimally invasive medullary hole type, "Truss" hole type and cutting end hole type. The stress analysis of CEC and traditional endodontic access (TEC) cavity are mainly based on the loading of teeth by a universal mechanical testing machine in vitro, finite element analysis and clinical observation. Most scholars’ studies have shown that minimally invasive endodontics can improve the fracture resistance of teeth, but the differential capacities of CEC and TEC remain controversial. How does on balance the purpose of pulp treatment and the maximum retention of tooth tissue? Further exploration is still needed.

BACKGROUND: The fetal growth charts in widest use in China were published by Hadlock >35 years ago and were established on data from several hundred of American pregnant women. After that, >100 fetal growth charts were published around the world. We attempted to assess the impact of applying the long-standing Hadlock charts and other charts in a Chinese population and to compare their ability to predict newborn small for gestational age (SGA). METHODS: For this retrospective observational study, we reviewed all pregnant women ( n  = 106,455) who booked prenatal care with ultrasound measurements for fetal biometry at the Shenzhen Maternity and Child Healthcare Hospital between 2012 and 2019. A fractional polynomial regression model was applied to generate Shenzhen fetal growth chart ranges for head circumference (HC), biparietal diameter (BPD), abdominal circumference (AC), and femur length (FL). The differences between Shenzhen charts and published charts were quantified by calculating the Z -score. The impact of applying these published charts was quantified by calculating the proportions of fetuses with biometric measurements below the 3rd centile of these charts. The sensitivity and area under the receiver operating characteristic curves of published charts to predict neonatal SGA (birthweight <10th centile) were assessed. RESULTS: Following selection, 169,980 scans of fetal biometry contributed by 41,032 pregnancies with reliable gestational age were analyzed. When using Hadlock references (<3rd centile), the proportions of small heads and short femurs were as high as 8.9% and 6.6% in late gestation, respectively. The INTERGROWTH-21st standards matched those of our observed curves better than other charts, in particular for fat-free biometry (HC and FL). When using AC<10th centile, all of these references were poor at predicting neonatal SGA. CONCLUSIONS Applying long-standing Hadlock references could misclassify a large proportion of fetuses as SGA. INTERGROWTH-21st standard appears to be a safe option in China. For fat-based biometry, AC, a reference based on the Chinese population is needed. In addition, when applying published charts, particular care should be taken due to the discrepancy of measurement methods.
Infant, Newborn ; Child ; Female ; Pregnancy ; Humans ; Growth Charts ; Prenatal Care ; Ultrasonography, Prenatal/methods* ; Fetal Development ; Fetal Growth Retardation ; Gestational Age ; Fetus ; China ; Infant, Newborn, Diseases ; Observational Studies as Topic

Objective:To investigate the prevalence and clinical characteristics of pruritus in adult patients with psoriasis vulgaris, and to evaluate the effect of pruritus on sleep and quality of life.Methods:From January 2020 to December 2020, 291 patients with psoriasis vulgaris were enrolled in Lanzhou University Second Hospital, and characteristics of pruritus as well as quality of sleep and life were evaluated by physicians directly or through a questionnaire. Binary logistic regression analysis was performed to analyze risk factors for pruritus, and multivariate linear regression to analyze factors affecting sleep and quality of life.Results:Among the 291 patients with psoriasis vulgaris, 184 (63.23%) were males and 107 (36.77%) were females, with the age ( M [ Q1, Q3]) being 37.00 (28.00, 50.00) years; 258 (88.64%) had the itching symptom, and the severity of itching was usually moderate. The severity of skin lesions was the main risk factor for pruritus ( OR = 1.252, 95% CI: 1.114-1.407, P < 0.001) . Psoriasis area and severity index was positively correlated with pruritus numerical rating scale (NRS) score ( r = 0.65, P < 0.001) , 5-D′S score ( r = 0.65, P < 0.001) , Pittsburgh sleep quality index (PSQI) score ( r = 0.48, P < 0.001) and dermatology life quality index (DLQI) score ( r = 0.63, P < 0.001) , the pruritus NRS score was positively correlated with the DLQI score ( r = 0.61, P < 0.001) and PSQI score ( r = 0.55, P < 0.001) , and the 5-D′S score was positively correlated with the DLQI score ( r = 0.62, P < 0.001) and PSQI score ( r = 0.64, P < 0.001) . Conclusion:Most adult patients with psoriasis vulgaris have moderate pruritus; the severity of disease markedly affects the severity of pruritus, and pruritus exerts considerable impact on sleep and quality of life.

Objective:To explore the effect of introducing mixed reality technology into traditional atlas teaching to teach airway anatomy under bronchoscopy.Methods:A total of 30 Batch 2017 fifth-year clinical medicine students from Shanghai Jiao Tong University School of Medicine were randomly divided into control group and test group by RAND function in Excel, with 15 students in each group. The control group was taught with the traditional bronchoscopic atlas teaching, and the test group was combined with mixed reality technology. The two groups had the same class time. After teaching, the teaching effect was evaluated by examination and evaluation questionnaire. SPSS 25.0 software was conducted for t test and Mann-Whitney U test. Results:The average score after teaching of test group was (61.67±20.15), and that of control group was (36.67±13.32), with statistically significant differences ( t=4.01, P<0.001). According to the questionnaire results, the scores of the test group on course understanding, course concentration, participation, mastery and satisfaction were better than those of the control group, and the differences were statistically significant ( P<0.05). Conclusion:Using mixed reality technology to assist the clinical teaching of airway anatomy under bronchoscopy can improve the quality of students' study and enhance their understanding of the teaching content and students' participation passion, achieving better teaching effect.