OBJECTIVE: To explore the clinical and genetic features of a child with Pontocerebellar hypoplasia type 2B (PCH2B) due to compound heterozygous variants of the TSEN2 gene. METHODS: A PCH2B patient presented at Department of Pediatric Neurology, Xiangya Hospital of Central South University in June 2023 was selected as the study subject. Clinical data of the patient were retrospectively analyzed. The patient and her parents were subjected to whole exome sequencing and bioinformatic analysis. Pathogenicity of the candidate variants were classified based on the guidelines from the American College of Medical Genetics and Genomics (ACMG). A literature review was also conducted by searching the China National Knowledge Infrastructure (CNKI), Wanfang Data, and PubMed databases from their establishment to May 2025 using keywords "TSEN2 gene" "PCH2B" and "Pontocerebellar Hypoplasia 2B" to summarize the clinical and genotypic features of patients with PCH2B due to variants of the TSEN2 gene. This study was approved by the Medical Ethics Committee of the Hospital (No.: #202310892). RESULTS: The patient, a 6-year-5-month-old girl, had exhibited severe global developmental delay, developmental regression, autism spectrum disorder, myoclonus of eyelids, feeding difficulty, irritability, progressive microcephaly, esotropia, and hypotonia. MRI showed reduced volume of bilateral cerebellar hemispheres and vermis. Genetic testing revealed that she has harbored compound heterozygous variants of the TSEN2 gene (NM_025265.4), namely c.1054A>T (p.Lys352*) and c.899G>T (p.Ser300Ile), which were inherited from her father and mother, respectively. Both variants were classified as likely pathogenic based on the ACMG guidelines and were previously unreported. Literature review has identified six PCH2B patients with missense, nonsense, frameshift, and splice site variants of the TSEN2 gene. Their main clinical manifestations included global developmental delay, progressive microcephaly, feeding difficulties, irritability, and vermis hypoplasia. Cranial MRI and genetic testing are crucial for definite diagnosis. CONCLUSION The c.1054A>T (p.Lys352*) and c.899G>T (p.Ser300Ile) compound heterozygous variants of the TSEN2 gene probably underlay the pathogenesis in this patient. Above findings has expanded the genotypic and phenotypic spectra of TSEN2-related PCH2B, and offered guidance for genetic counseling for this family.
Child ; Female ; Humans ; Cerebellar Diseases/genetics* ; Exome Sequencing ; Heterozygote ; Mutation

It is considered that "turbid pathogen damaging the clear， and the loss of clarity and harmony regulation" is the core pathogenesis of esophageal precancerous lesions， with turbid pathogen persisting throughout the disease course. Turbid pathogen encompasses qi turbidity， phlegm turbidity， stasis turbidity， and toxin turbidity， closely related to dietary indiscretion， emotional disharmony， spleen-stomach deficiency， and kidney deficiency failing to consolidate. Turbid pathogen undergoes a dynamic evolution process of qi constraint generating turbid→ phlegm-stasis transforming into toxin→turbidity toxin harming the healthy qi， corresponding to the pathological alterations of hypoxia， inflammation and immunosuppression within the tumor microenvironment. The overall therapeutic principle is to remove turbidity and restore clarity. In the early stage， targeting the hypoxic tumor microenvironment， the suggested treatment method is opening constraint and dispersing the block， regulating qi and remove turbidity， with emphasis on soothing liver and regulating stomach， raising the clear and directing the turbid downward. In the middle stage， targeting inflammatory microenvironment， the treatment aims to clear toxin and dissipate nodules， resolve stasis and eliminate turbid， emphasizing phlegm-stasis elimination， turbid-toxin resolution， and concurrent stomach qi protection. In the late stage， corresponding to immunosuppressive microenvironment， the method of boosting qi， nourishing yin， reinforcing healthy qi， and eliminating turbidity can be used， with focus on spleen-stomach tonification， kidney essence replenishment， and healthy qi reinforcement to expel pathogenic factors.

Objective This study conducted molecular biological identification of the viruses carried by Culex pipiens pallens specimens collected in Shunyi District, Beijing in 2023, and observed the changes in the infection rate of the viruses carried by Cx. pipiens pallens at different collection times. Methods Cx. pipiens pallens were collected using carbon dioxide mosquito traps. The mosquito samples were ground in batches and analyzed by molecular biology technologies. The virus infection rate at different collection times was analyzed statistically. Results 17 strains of Culex pipiens pallens densovirus(CppDNV)were identified from Cx. pipiens pallens samples collected in Shunyi District, Beijing, in 2023. The nucleotide sequence analysis of the virus genome coding region showed that CppDNV was a single-stranded DNA virus with a total length of 3 335 nt, encoding 2 non-structural proteins(NS1, NS2)and 1 capsid protein(VP). The nucleotide(amino acid)sequence lengths of the three proteins were 2 376 nt(791 aa),1 092 nt(363 aa)and 1 071 nt(356 aa), respectively. Phylogenetic analysis showed that CppDNV was located in genus Brevihamaparvovirus. Statistical analysis showed no significant difference in infection rates across collection times(χ2=4.429, P=0.194). Conclusions CppDNV was identified in Cx. pipiens pallens in Beijing, and it was stably maintained in this natural population.

As a traditional Chinese medicinal herb for pacifying the liver and extinguishing wind， Gastrodiae Rhizoma contains main active ingredients such as gastrodin， gastrodia polysaccharides and gastrodigenin. It exerts the effects of extinguishing wind and relieving convulsions， calming liver yang， dispelling wind and unblocking collaterals， which is highly consistent with the traditional Chinese medicine pathogenesis of hypertension. This paper systematically reviews the pharmacological effects and molecular mechanisms of active ingredients of Gastrodiae Rhizoma， herb pair compatibility， and classic prescriptions in hypertension. It is found that Gastrodiae Rhizoma and its active ingredients can collaboratively exert antihypertensive effects by regulating hemodynamics， oxidative stress， inflammatory response and other pathways， alleviate hypertensive vascular injury， and ameliorate damage to target organs including the heart， brain and kidney induced by hypertension. Compatibility of Gastrodiae Rhizoma with medicinal materials such as Uncaria， Chuanxiong， and Danshen produces remarkable synergistic efficacy against hypertension. Classic prescriptions containing Gastrodiae Rhizoma represented by Tianma gouteng decoction and Banxia baizhu tianma decoction can inhibit inflammation， resist oxidation， and protect vascular endothelium， so as to ameliorate hypertensive vascular injury and lower blood pressure.

As a traditional Chinese medicinal herb for pacifying the liver and extinguishing wind， Gastrodiae Rhizoma contains main active ingredients such as gastrodin， gastrodia polysaccharides and gastrodigenin. It exerts the effects of extinguishing wind and relieving convulsions， calming liver yang， dispelling wind and unblocking collaterals， which is highly consistent with the traditional Chinese medicine pathogenesis of hypertension. This paper systematically reviews the pharmacological effects and molecular mechanisms of active ingredients of Gastrodiae Rhizoma， herb pair compatibility， and classic prescriptions in hypertension. It is found that Gastrodiae Rhizoma and its active ingredients can collaboratively exert antihypertensive effects by regulating hemodynamics， oxidative stress， inflammatory response and other pathways， alleviate hypertensive vascular injury， and ameliorate damage to target organs including the heart， brain and kidney induced by hypertension. Compatibility of Gastrodiae Rhizoma with medicinal materials such as Uncaria， Chuanxiong， and Danshen produces remarkable synergistic efficacy against hypertension. Classic prescriptions containing Gastrodiae Rhizoma represented by Tianma gouteng decoction and Banxia baizhu tianma decoction can inhibit inflammation， resist oxidation， and protect vascular endothelium， so as to ameliorate hypertensive vascular injury and lower blood pressure.

Listeria brainstem encephalitis with myelitis is extremely rare in clinical practice.Since the clinical manifestations are non-specific,MRI is helpful for diagnosis.Positive cerebrospinal fluid culture is considered the gold standard for diagnosis.This article reports a case of an immunocompetent individual with listeria brainstem encephalitis with myelitis,aiming to enhance the awareness of this condition.
Humans ; Brain Stem/pathology* ; Diagnostic Errors ; Encephalitis/complications* ; Encephalomyelitis, Acute Disseminated/diagnosis* ; Listeriosis/complications* ; Myelitis/complications*

Objective:To summarise the main points of operation during thyroid surgery using bilateral axillo-breast approach (BABA) with a domestic robot and to analyse the learning curve.Methods:From May. 2023 to Oct. 2023, we retrospectively analysed the clinical data of 38 patients who underwent thyroid surgery with domestically manufactured robot via BABA attending the Department of Thyroid and Breast Surgery of the 960th Hospital of PLA Joint Logistics Support Force, proposed and constructed learning curves using cumulative and analytical methods to study the minimum number of learning cases required for the loading time of assistants and surgeon-in-charge with da Vinci surgical experience to transition from the initial learning stage to the proficiency stage. The age, BMI, surgical time (loading time, operating time), postoperative drainage time, and number of lymph nodes dissected were compared among patients at different stages of the learning curve.Results:A total of 38 thyroidectomy patients successfully underwent surgery, with an average surgical time of (176.61 ± 47.98) minutes. After 18 cases, the assistant's loading time shortened and stabilized at (42.20 ± 3.44) minutes. The operator reached peak proficiency at the 18th case (loading time, operating time), which was considered the dividing point between the learning phase and the proficiency phase. During the learning phase, the average surgical time was (209.72 ± 49.28) minutes, operation time: (165.44 ± 49.93) minutes, while in the proficiency phase, the average surgical time decreased to 146.80 ± 18.34 minutes, operation time: (104.60 ± 19.01) minutes. There were no statistically significant differences in baseline characteristics such as age, BMI, postoperative drainage time, or the number of central compartment lymph nodes dissected between the two phases ( P > 0.05) . Conclusion:Over the results of this study, it was shown that for robosurgeons with experience in da Vinci robotic surgery, the transition from the learning stage to the proficiency stage could be considered after crossing the learning curve for 18 cases, and that assistants could become proficient in loading techniques after 18 procedures.

Objective To compare the safety and efficacy of vancomycin in obese patients guided by trough concentration and AUC24h/MIC,and to provide data for individualized administration of vancomycin in obese patients.Methods We retrospectively collected the data of obese adult patients(BMI 30 kg/m2)who had severe infection caused by gram-positive cocci and treated with vancomycin intravenously in two Grade A tertiary hospitals in Shanghai from 2012 to 2024.The patients were assigned to trough concentration monitoring group or AUC24h/MIC monitoring group according to the therapeutic drug monitoring(TDM)method at the time of admission.Nephrotoxicity and efficacy were compared between the two groups of patients.Results A total of 22 obese patients were included in this study,including 12 in the trough concentration monitoring group and 10 in the AUC24h/MIC monitoring group.No significant difference was found between the two groups in gender,age,BMI,creatinine clearance before treatment,underlying disease,site of infection,pathogen type,or concomitant medications.The proportion of ICU admission was higher in AUC24h/MIC monitoring group.The length of ICU stay,vancomycin treatment duration,bacterial clearance rate and comprehensive efficacy rate did not show significant difference between the two groups.The average daily dose of vancomycin in trough concentration monitoring group was significantly lower than that in A UC24h/MIC monitoring group[(1.63±0.59)g vs(2.29±0.72)g,P=0.026].The average treatment duration was not significantly different between the two groups[(15.33±10.28)d vs(14.90±6.92)d,P=0.911].Compared with the trough concentration monitoring group,the initial peak concentration[(30.99±16.22)mg/L vs(19.41±5.42)mg/L,P=0.025]and overall peak concentration[(33.67±16.53)mg/L vs(22.08±3.96)mg/L,P=0.045]of vancomycin were lower in theAUC24h/MIC monitoring group,but the initial trough concentration[(11.03±8.66)mg/L vs(6.33±4.45)mg/L,P=0.139]and overall trough concentration[(13.75±9.74)mg/L vs(9.74±4.24)mg/L,P=0.218]were similar in the two groups.Vancomycin-associated nephrotoxicity did not occur in any group,but 41.7％of the patients in the trough concentration monitoring group reached the threshold of renal toxicity,i.e.trough concentration ≥15 mg/L.Conclusions Vancomycin treatment with conventional dosing regimen still have good clinical efficacy in obese adult patients.Vancomycin therapy guided by A UC24h/MIC can achieve the target value at lower concentration or exposure,which is promising for reducing vancomycin-associated nephrotoxicity.

Objective:To analyze the differences in screening neonatal glucose-6-phosphate dehydrogenase (G6PD) deficiency in different birth seasons, establish screening thresholds for G6PD concentration in each season using indirect methods, and verify the reliability of the results.Methods:This was a cross-sectional study.A total of 140 823 newborns were collected from the Neonatal Screening Center of Shanghai Children′s Hospital from January 2020 to December 2023, including 41 029 cases, 35 796 cases, 33 969 cases and 30 029 cases in spring, summer, autumn and winter groups, respectively.The concentration of G6PD on the dried blood filter paper was determined using an automatic fluorescence analyzer.The distribution and statistical index of concentration values in four seasons were analyzed.The Kolmogorov-Smirnov test was used for normal distribution.The skewed distribution data was converted into approximately normal distribution using Box-Cox.Outliers were eliminated using the interquartile range (Turkey) method.The cumulative frequency distribution map was drawn through R language programming.The linear regression equation Y=B X+ A was fitted.The 0.5th percentile ( P0.5) was used as the screening threshold, which was compared with the reference value given by the manufacturer or laboratory and with the reference change value (RCV). Results:In the spring group, the positive rate was 4.02‰, 91 cases were confirmed, and the incidence was 1∶451.In the summer group, the positive rate was 7.18‰, 90 cases were confirmed, and the incidence was 1∶398.In the autumn group, the positive rate was 3.21‰, 86 cases were confirmed, and the incidence was 1∶395.In the winter group, the positive rate was 2.26‰, 61 cases were confirmed, and the incidence was 1∶492.The incidence rate did not change significantly in the four seasons ( P>0.05).The G6PD concentrations in the four seasons were compared in pairs, and the result was winter>autumn>spring>summer.The thresholds for G6PD screening were established indirectly: 25.08 U/dL, 22.83 U/dL, 26.63 U/dL and 38.01 U/dL in spring, summer, autumn and winter groups, respectively.The relative deviation in the threshold between the summer group and the laboratory was lower than RCV, while that between the other groups was higher than RCV.According to the screening threshold, the negative and positive conformity rates of 12 batches of 120 samples in the inter-laboratory evaluation program of Chinese Taiwan Preventive Medicine Foundation of China reached 100%. Conclusions:There is no difference in the incidence of G6PD deficiency between birth seasons.It is feasible to establish the screening threshold in each season using indirect methods, which is conducive to improving the efficiency of screening.

Evidence-based treatment strategies for patients with cardiovascular disease and diabetes have been updated in recent years. However, substantial gaps remain between guideline recommendations and clinical practice, which justify the urgent need to improve the quality of care for patients with these conditions. The Chinese Society of Cardiology and the Chinese Society of Diabetes, in collaboration with the American Heart Association and the American Diabetes Association, designed the China Diabetes Cardiovascular project. The China Diabetes Cardiovascular project is a nationwide registry study aimed at improving the quality of care for patients with acute coronary syndrome and diabetes in China. Launched in 2021, this project has enrolled 36 hospitals across mainland China. Patients with a primary discharge diagnosis of comorbid acute coronary syndrome and diabetes will be eligible to participate. Pre-defined performance measures will be adopted to evaluate the quality of care for these patients. Multiple quality improvement strategies will be adopted, including providing monthly quality reports based on these measures, conducting a series of training courses, and distributing educational materials. A comprehensive dataset, encompassing patients' characteristics, medical history, treatment before and during the current hospitalization, and discharge medications for secondary prevention, will be collected through a web-based data collection platform. This project has the potential to improve the quality of care and reduce the care disparities in the management of patients with these diseases. Moreover, with its comprehensive data collection, this project will provide a strong foundation for exploring key clinical questions.