Spinal muscular atrophy （SMA） is characterized by muscle atrophy and weakness caused by degeneration of the anterior horn cells of the spinal cord， and spinal muscular atrophy with lower extremity predominance （SMALED） accounts for less than 2% of all SMA cases.Due to the rarity of the disease and varying severities of its clinical phenotype， misdiagnosis or missed diagnosis is often observed in clinical practice. In this case， a male patient aged 19 years was admitted due to “weakness in both lower limbs for more than 2 years and aggravation for more than 2 months”. Neurophysical examination showed low muscle strength and muscle atrophy of lower limbs， with negative pathological signs or sensory disorders. Electromyography examination revealed neurogenic damage in both lower limbs， and the clinical and electrophysiological features of the patient were consistent with the features of SMALED. Genetic testing revealed BICD2 gene mutation， and the patient was diagnosed with SMALED2. There was no aggravation of clinical symptoms at follow-up half a year later. This case report aims to improve the understanding and diagnosis of this disease among clinicians.

Objective To analyze the economic cost of self-monitoring of gestational diabetes mellitus, and provide a basis for measuring the economic burden of gestational diabetes mellitus, and to provide a reference for the formulation of intervention development and the adjustment of resource allocation. Methods The individual economic cost of self-monitoring for gestational diabetes mellitus was measured based on a decision tree model, and the total economic cost of self-monitoring for gestational diabetes mellitus in Beijing was estimated. The uncertainty of the model parameters was analyzed using one-way sensitivity analysis. Results The average individual economic cost of gestational diabetes self-monitoring was 1184 RMB, and the individual cost incurred by choosing different types of blood glucose meters ranged from 403 to 18 000 RMB. The average individual economic cost of finger-stick blood glucose monitoring was 606 RMB and the average individual economic cost of continuous glucose monitoring was 2 374 RMB. The total economic cost of gestational diabetes self-monitoring in Beijing was 23.818 0 million RMB, and the total economic cost incurred by choosing different types of blood glucose meters ranged from 0.292 5 to 9.027 9 million RMB. The proportion of the finger-stick blood glucose monitoring had the greatest impact on the robustness of the results. Conclusion Finger-stick blood glucose monitoring is still the dominant self-monitoring method and is less costly than continuous glucose monitoring. Self-monitoring of pregnant women with gestational diabetes mellitus incurs certain economic cost and causes an economic burden on society.

Objective To summarize and explore the individualized surgical treatment strategy and prognosis of anomalous aortic origin of coronary artery (AAOCA). Methods The clinical data of children with AAOCA admitted to Shanghai Children's Medical Center from March 2018 to August 2021 were retrospectively analyzed. Results A total of 17 children were enrolled, including 13 males and 4 females, with a median age of 88 (44, 138) months and a median weight of 25 (18, 29) kg. All patients received operations. The methods of coronary artery management included coronary artery decapitation in 9 patients, coronary artery transplantation in 5 patients and coronary artery perforation in 3 patients. One patient with severe cardiac insufficiency (left ventricular ejection fraction 15%) received mechanical circulatory assistance after the operation for 12 days. No death occurred in the early postoperative period, the average ICU stay time was 4.3±3.0 d, and the total hospital stay was 14.4±6.1 d. All the children received regular anticoagulation therapy for 3 months after discharge. The median follow-up time was 15 (13, 24) months. All patients received regular anticoagulation therapy for 3 months after discharge. No clinical symptoms such as chest pain and syncope occurred again. The cardiac function grade was significantly improved compared with that before operation. Imaging examination showed that the coronary artery blood flow on the operation side was unobstructed, and no restenosis occurred. Conclusion AAOCA is easy to induce myocardial ischemia and even sudden cardiac death. Once diagnosed, operation should be carried out as soon as possible. According to the anatomic characteristics of coronary artery, the early effect of individualized surgery is satisfactory, and the symptoms of the children are significantly improved and the cardiac function recovers well in the mid-term follow-up.

Transcatheter aortic valve replacement (TAVR) has seen a surge in clinical research, basic research, and innovative device development both domestically and internationally in the previous 2023. This article aims to review the progress of TAVR in the past year from the perspectives of international, and domestic research development of application. It highlights new clinical and basic research findings both domestically and internationally, the emergence of new devices and technologies, and the development and use of TAVR in China. Finally, it provides an outlook on the trajectory of TAVR development in 2024.

Objective To assess the efficacy and safety of ascending aorta banding technique combined with typeⅠhybrid aortic arch repair for the aortic arch diseases. Methods The clinical data of patients undergoing ascending aorta banding technique combined with type Ⅰ hybrid arch repair for aortic arch diseases from March 2019 to March 2022 in Beijing Anzhen Hospital were retrospectively analyzed. The technical success, perioperative complications and follow-up results were evaluated. Results A total of 44 patients were collected, including 35 males and 9 females, with a median age of 63.0 (57.5, 64.6) years. The average EuroSCORE Ⅱ score was 8.4%±0.7%. The technical success rate was 100.0%. All patients did not have retrograde type A aortic dissection and endoleaks. One patient died of multiple organ failure 5 days after operation, the in-hospital mortality rate was 2.3%, and the remaining 43 patients survived and were discharged from hospital. The median follow-up period was 14.5 (6-42) months with a follow-up rate of 100.0%. One patient with spinal cord injury died 2 years after hospital discharge. One patient underwent thoracic endovascular aortic repair at postoperative 3 months due to new entry tears near to the distal end of the stent. Conclusion Ascending aorta banding combined with typeⅠhybrid arch repair for the aortic arch diseases does not need cardio-pulmonary bypass. Ascending aorta banding technique strengthens the proximal anchoring area of the stent to avoid risks such as retrograde type A dissection, endoleak and migration. The operation owns small trauma, rapid recovery, low mortality and a low rate of reintervention, which may be considered as a safe and effective choice in the treatment of the elderly, high-risk patients with complex complications.

G protein-coupled receptor (GPR) 40, as one of GPRs family, plays a potential role in regulating glucose and lipid metabolism. To study the effect of GPR40 novel agonist SZZ15-11 on hyperglycemia and hyperlipidemia and its potential mechanism, spontaneous type 2 diabetic KKA^y mice, human hepatocellular carcinoma HepG2 cells and murine mature adipocyte 3T3-L1 cells were used. KKA^y mice were divided into four groups, vehicle group, TAK group, SZZ (50 mg·kg^-1) group and SZZ (100 mg·kg^-1) group, with oral gavage of 0.5% sodium carboxymethylcellulose (CMC), 50 mg·kg^-1 TAK875, 50 and 100 mg·kg^-1 SZZ15-11 respectively for 45 days. Fasting blood glucose, blood triglyceride (TG) and total cholesterol (TC), non-fasting blood glucose were tested. Oral glucose tolerance test and insulin tolerance test were executed. Blood insulin and glucagon were measured via enzyme-linked immunosorbent assay (ELISA). After mice′s execution, liver tissue was harvested to test TG and TC content. Then pathological morphology of liver was observed through hematoxylin-eosin (HE) staining, and the lipid metabolism relative signal pathway was analyzed by Western blot and RT-PCR. The experiments were approved by the Institutional Animal Care and Use Committee of the Institute of Materia Medica, Chinese Academy of Medical Sciences and Peking Union Medical College. At the same time, Akt phosphorylation level in HepG2 cells and adiponectin in 3T3-L1 cells treated with TNFα were measured with Western blot. The results show that SZZ15-11 not only decreased blood glucose and lipid, improved insulin sensitivity, but also increased fasting blood glucagon and promoted insulin secretion after glucose loading in KKA^y mice. Additionally, SZZ15-11 alleviated hepatic steatosis and liver dysfunction in KKA^y mice. In liver tissue, SZZ15-11 increased AMPKα phosphorylation level and cholesterol metabolism relative gene Abcg8 transcription. In HepG2 cells, SZZ15-11 increased Akt phosphorylation level. In adipocyte 3T3-L1, SZZ15-11 recovered the decreased adiponectin expression by TNFα. This study proved that GPR40 agonist SZZ15-11 could be a candidate compound for regulating glucolipid metabolic disorder.

OBJECTIVE To test and compare the median effective dose(ED50) of ciprofol for gastroscope in patients of different genders and ages. METHODS Patients who planed to undergo gastroscope examination and treatment from March 2023 to April 2023 were selected, and divided into four groups according to stratified random method: N1 group(non-elderly male patients), N2 group(non-elderly female patients), N3 group(elderly male patients), and N4 group(elderly female patients). All patients received intravenous injection of 0.1 μg·kg−1 sufentanil followed by injection of the test dose of ciprofol according to Dixon’s modified sequential method. Gastroscope was performed after the disappearance of the eyelash reflex. The initial dose of ciprofol in all four groups was 0.4 mg·kg−1, and the ratio of adjacent doses was 1∶1.1. The next patient would receive a 10% increase in the dose of ciprofol if the patient experienced positive reactions such as coughing, frowning, and body movements during the endoscopy process. Otherwise, it would be judged as a negative reaction, and the next patient would receive a 10% decrease in the dose of ciprofol. The transition from a positive reaction to a negative reaction was defined as a turning point, and the study was terminated when seven turning points occurred. Hemodynamic parameters, oxygen saturation and adverse reactions were recorded at different time points. The Probit regression analysis method was used to calculate the ED50 of ciprofol for four groups. RESULTS The ED50 of ciprofol combined with 0.1 μg·kg−1 sufentanil for gastroscope in the non-elderly men, non-elderly women, elderly men, and elderly women were 0.409, 0.373, 0.356, 0.327 mg·kg−1, respectively. The ED50 of ciprofol in the N1 group was significantly higher compared with the N2 group and N3 group(P<0.05). The ED50 of ciprofol in the N4 group was significantly lower compared with the N2 group and N3 group(P<0.05). CONCLUSION The ED50 of ciprofol is significantly different among gastroscope patients of different genders and ages, which is lower in female patients than in male patients, and is lower in older patients than in non-elderly patients.

OBJECTIVE To explore the effect of single dose and multiple doses of silibinin on the in vivo pharmacokinetics of nevirapine in rats. METHODS Thirty male SD rats were randomly divided into blank control group, multiple administration of low-dose group(30 mg·kg−1) , multiple administration of high-dose group(100 mg·kg−1), single administration low-dose group(30 mg·kg−1) , and single administration high-dose group(100 mg·kg−1). Blood samples were collected to determine the concentration of nevirapine and its metabolites in rat plasma after an oral administration of 10 mg·kg−1 nevirapine. The kinetic parameters of nevirapine and its metabolites in each group were calculated by DAS and analyzed statistically. RESULTS Compared with the blank control group, multiple doses of 100 mg·kg−1·d−1 silibinin significantly increased the AUC of nevirapine by 61.78%, Cmax by 124.62% and decreased the clearance rate to 64.11%; multiple doses of 30 mg·kg−1·d−1 silibinin significantly increased the Cmax of nevirapine by 84.85%; a single dose of 100 mg·kg−1 or 30 mg·kg−1 silibinin significantly increased the Cmax of nevirapine by 65.19% and 32.12%, respectively. The metabolic ratio of 12-hydroxy-nervirapine was decreased by 31.5% by multiple doses of 100 mg·kg−1·d−1 silibinin where the pharmacokinetic parameters of 4-carboxyl-nervirapine remained unchanged. CONCLUSION Silibinin significantly affects the pharmacokinetics of nevirapine in rats. The drug-drug interaction should be considered when nevirapine and silibinin are concomitant.

Objective To explore the method and feasibility of establishing patent ductus arteriosus (PDA) model in Bama miniature pig by using autologous jugular vein, and to provide a large animal model for the development of PDA occluder and the study of pulmonary hypertension associated with congenital heart disease. Methods Five male Bama miniature pigs weighing about 45 kg were selected to gain the PDA model of the autogenous jugular vein, which was fixed by glutaraldehyde and anastomosed between the ascending aorta and the main pulmonary artery. The patency of PDA was confirmed by echocardiography and angiocardiography immediately and one week after the operation. Two animals were selected to undergo transcatheter closure of PDA via femoral vein 1 week after the operation, and the rest were euthanized to obtain PDA and lung tissue for pathological examination. Results The PDA model was successfully established in all five animals with a success rate of 100.0%. Immediately and 1 week after the operation, echocardiography and angiography showed that PDA blood flow was unobstructed, and hematoxylin-eosin staining showed that PDA endothelialization was good. One week after the operation, two animals were successfully treated with transcatheter femoral vein occlusion. The pathological examination of lung tissue showed thickening of the intima and muscular layer of pulmonary arterioles, thickening of pulmonary interstitium and infiltration of neutrophils. Conclusion It is safe and feasible to establish a large animal model of PDA by using autogenous jugular vein anastomosis between the ascending aorta and the main pulmonary artery. The model can be used for the development of PDA interventional occlusive devices and the pathophysiological study of congenital heart disease-related pulmonary hypertension.

Objective To investigate the correlation between serum vitamin D level and central precocious puberty(CPP)in girls.Methods A total of 103 girls(case group)with central precocious puberty from Ningbo Woman and Children's Hospital and 53 healthy girls(control group)from health check-ups in Ningbo Women and Children's Hospital were collected as subjects.The serum levels of 25-hydroxyvitamin D3[25(OH)D3]in the two groups were detected by chemiluminescence method.The weight and height of girls in the case group were measured.The serum levels of follicle-stimulating hormone(FSH)and its peak value,luteinizing hormone(LH)and its peak value,estradiol(E2),prolactin(PRL),human chorionic gonadotropin(HCG)and thyroid function were measured by radioimmunoassay.The peak value of LH/FSH was calculated.B ultrasound examination of uterine adnexa was completed to calculate uterine volume and bilateral ovarian volume.According to the results of serum 25-(OH)D3,girls in the case group were divided into normal vitamin D group and vitamin D deficiency group,and the differences of hormone levels,uterine and ovarian development between the two groups were compared.Results The serum level of 25-(OH)D3 in case group was lower than that in control group,and the vitamin D deficiency rate in case group was higher than that in control group,with statistical significance(P<0.05).The age of breast nodules in vitamin D deficiency group was lower than that in vitamin D normal group(P<0.05).There were no significant differences in body weight,height,body mass index(BMI),uterine volume and left ovarian volume between vitamin D normal group and vitamin D deficiency group(P>0.05),and the right ovarian volume in vitamin D deficiency group was significantly higher than that in vitamin D normal group(P<0.05).There were no significant differences in serum levels of FSH,LH,PRL,HCG,peak value of FSH and thyroid function between normal and deficient groups(P>0.05).The levels of E2,LH and LH/FSH in vitamin D deficiency group were significantly higher than those in vitamin D normal group(P<0.05);25-(OH)D3 was negatively correlated with LH/FSH peak(r=-0.197,P<0.05),but was not significantly correlated with thyroid function,FSH,LH,PRL,E2,HCG,FSH and LH peak(P>0.05).Conclusion Vitamin D deficiency is associated with central precocious puberty in girls.Vitamin D deficiency may lead to early onset of precocious puberty.Vitamin D deficiency may affect the hypothalamic-pituitary-gonadal axis function,resulting in changes in reproductive hormone indexes and consequent increase in ovarian volume in girls.