Objective:To carry out carrier screening among people of childbearing age, detect the pathogenic genes of monogenic genetic diseases and analyze the carrier status of pathogenic variants, so as to provide fertility guidance and intervention measures for high-risk families.Methods:From August 2022 to August 2023, 1 533 families of childbearing age who met the criteria were recruited in the Chinese PLA General Hospital, including a total of 3 044 subjects. According to the standard enrollment procedure, 223 genes (197 autosomal recessive genes and 26 X-linked genes) of the subjects were tested. According to the screening results, genetic counseling and fertility guidance were provided to the subjects. Invasive prenatal diagnosis was performed for high-risk couples (both couples being carriers of the same autosomal recessive disease gene or the woman was a carrier of X-linked disease gene), and their pregnancy pattern, outcome and offspring phenotype were followed up.Results:(1) A total of 3 044 cases from 1 511 couples and women of childbearing age from 22 families were included for carrier screening. Totally 1 503 families chose simultaneous screening and 30 families chose sequential screening out of the 1 533 families. Among the 3 044 subjects, 1 603 individuals carried at least one pathogenic or likely pathogenic variant, and the overall carrier rate was 52.66% (1 603/3 044). A total of 2 292 pathogenic or likely pathogenic variants were detected, and 0.75 variants (2 292/3 044) were detected per capita. (2) The three genes with the highest carrier rates were GJB2 (8.67%, 264/3 044), CYP21A2 (3.19%, 97/3 044) and PAH (3.09%, 94/3 044). There were 32 genes with a carrier rate ≥1/200, 17 genes with a carrier rate ≥1/100, and 7 genes with a carrier rate ≥1/50. (3) Thirty-eight high-risk families were identified. After excluding G6PD gene mutation, there were 33 high-risk families, of which 25 couples were carriers of the same autosomal recessive gene, 9 women were carriers of X-linked gene, and 1 family was double high-risk couple with both autosomal recessive and X-linked gene. After further excluding the GJB2 c.109G>A mutation, 21 high-risk families were identified. Preimplantation genetic testing for monogenic disease was performed in 12 families after genetic counseling. Prenatal diagnosis was completed in 4 out of 5 high-risk families who conceived naturally. Two fetuses carried the parental variants and terminated the pregnancy, one fetus did not carry the parental variants but was induced due to trisomy 21 syndrome, and one fetus was a carrier of congenital disorders of glycosylation type 1a.Conclusions:Carrier screening effectively identifies high-risk genetic disease families and provides reproductive guidance to prevent the birth of affected children. However, establishing multidisciplinary team is essential for managing complex cases. Implementation should prioritize prenatal institutions with genetic counseling or diagnostic expertise for monogenic disorders or established referral networks.

Objective To observe the value of MRI radiomics model for predicting postoperative prognosis of moderate carpal tunnel syndrome(CTS).Methods A total of 126 patients with moderate CTS who underwent endoscopic release and fat-suppressed proton density weighted imaging(PDWI)before operation were retrospectively enrolled.The patients were divided into good prognosis group(n=80)and poor prognosis group(n=46)based on postoperative functional evaluation,also randomly divided into training set and validation set at a ratio of 7∶3.Volume of interest(VOI)of the median nerve was obtained through delineating ROI of the affected wrist on fat suppressed PDWI.Radiomics features were extracted,and those associated with postoperative prognosis of CTS were screened in training set.Clinical prediction model,radiomics model and combined model of these two were established,and the predictive efficacy of the models were evaluated and compared according to the area under the curve(AUC)of receiver operating characteristic(ROC)curve.Results Patients in poor prognosis group were older than in good prognosis group(P＜0.05).A clinical model was constructed based on age.The radiomics model was constructed based on 6 radiomics features associated with postoperative prognosis of CTS,with predictive efficacy(AUC=0.872)higher than that of clinical model(AUC=0.604,P＜0.05)but not significantly different with that of the combined model(AUC=0.905,P＞0.05).Conclusion MRI radiomics model could be used to effectively predict postoperative prognosis of moderate CTS.

Objective To observe the value of MRI radiomics model for predicting postoperative prognosis of moderate carpal tunnel syndrome(CTS).Methods A total of 126 patients with moderate CTS who underwent endoscopic release and fat-suppressed proton density weighted imaging(PDWI)before operation were retrospectively enrolled.The patients were divided into good prognosis group(n=80)and poor prognosis group(n=46)based on postoperative functional evaluation,also randomly divided into training set and validation set at a ratio of 7∶3.Volume of interest(VOI)of the median nerve was obtained through delineating ROI of the affected wrist on fat suppressed PDWI.Radiomics features were extracted,and those associated with postoperative prognosis of CTS were screened in training set.Clinical prediction model,radiomics model and combined model of these two were established,and the predictive efficacy of the models were evaluated and compared according to the area under the curve(AUC)of receiver operating characteristic(ROC)curve.Results Patients in poor prognosis group were older than in good prognosis group(P＜0.05).A clinical model was constructed based on age.The radiomics model was constructed based on 6 radiomics features associated with postoperative prognosis of CTS,with predictive efficacy(AUC=0.872)higher than that of clinical model(AUC=0.604,P＜0.05)but not significantly different with that of the combined model(AUC=0.905,P＞0.05).Conclusion MRI radiomics model could be used to effectively predict postoperative prognosis of moderate CTS.

Objective:To carry out carrier screening among people of childbearing age, detect the pathogenic genes of monogenic genetic diseases and analyze the carrier status of pathogenic variants, so as to provide fertility guidance and intervention measures for high-risk families.Methods:From August 2022 to August 2023, 1 533 families of childbearing age who met the criteria were recruited in the Chinese PLA General Hospital, including a total of 3 044 subjects. According to the standard enrollment procedure, 223 genes (197 autosomal recessive genes and 26 X-linked genes) of the subjects were tested. According to the screening results, genetic counseling and fertility guidance were provided to the subjects. Invasive prenatal diagnosis was performed for high-risk couples (both couples being carriers of the same autosomal recessive disease gene or the woman was a carrier of X-linked disease gene), and their pregnancy pattern, outcome and offspring phenotype were followed up.Results:(1) A total of 3 044 cases from 1 511 couples and women of childbearing age from 22 families were included for carrier screening. Totally 1 503 families chose simultaneous screening and 30 families chose sequential screening out of the 1 533 families. Among the 3 044 subjects, 1 603 individuals carried at least one pathogenic or likely pathogenic variant, and the overall carrier rate was 52.66% (1 603/3 044). A total of 2 292 pathogenic or likely pathogenic variants were detected, and 0.75 variants (2 292/3 044) were detected per capita. (2) The three genes with the highest carrier rates were GJB2 (8.67%, 264/3 044), CYP21A2 (3.19%, 97/3 044) and PAH (3.09%, 94/3 044). There were 32 genes with a carrier rate ≥1/200, 17 genes with a carrier rate ≥1/100, and 7 genes with a carrier rate ≥1/50. (3) Thirty-eight high-risk families were identified. After excluding G6PD gene mutation, there were 33 high-risk families, of which 25 couples were carriers of the same autosomal recessive gene, 9 women were carriers of X-linked gene, and 1 family was double high-risk couple with both autosomal recessive and X-linked gene. After further excluding the GJB2 c.109G>A mutation, 21 high-risk families were identified. Preimplantation genetic testing for monogenic disease was performed in 12 families after genetic counseling. Prenatal diagnosis was completed in 4 out of 5 high-risk families who conceived naturally. Two fetuses carried the parental variants and terminated the pregnancy, one fetus did not carry the parental variants but was induced due to trisomy 21 syndrome, and one fetus was a carrier of congenital disorders of glycosylation type 1a.Conclusions:Carrier screening effectively identifies high-risk genetic disease families and provides reproductive guidance to prevent the birth of affected children. However, establishing multidisciplinary team is essential for managing complex cases. Implementation should prioritize prenatal institutions with genetic counseling or diagnostic expertise for monogenic disorders or established referral networks.

Background: and Purpose The eye-movement examination can be applied as a noninvasive method to identify multiple-system atrophy (MSA). Few studies have investigated eye movements during the early stage of MSA with predominant parkinsonism (MSA-P). We aimed to determine the characteristic oculomotor changes in the early stage of MSA-P. Methods: We retrospectively selected 17 patients with MSA-P and 40 with Parkinson’s disease (PD) with disease durations of less than 2 years, and 40 age-matched healthy controls (HCs).Oculomotor performance in the horizontal direction was measured in detail using videonystagmography. Results: We found that the proportions of patients with MSA-P and PD exhibiting abnormal eye movements were 82.4% and 77.5%, respectively, which were significantly higher than that in the HCs (47.5%, p<0.05). Compared with HCs, patients with MSA-P presented significantly higher abnormal proportions of fixation and gaze-holding (17.6% vs. 0%), without-fixation (47.1% vs. 0%), prolonged latency in reflexive saccades (29.4% vs. 5.0%), memory-guided saccades (93.3% vs. 10.0%), and catch-up saccades in smooth-pursuit movement (SPM, 41.2% vs. 0) (all p<0.05). Compared with those with PD, patients with MSA-P presented a significantly higher proportion of catch-up saccades in SPM (41.2% vs. 2.5%, p<0.001). Conclusions MSA-P presented the characteristic of catch-up saccades in SPM in the early stage, which may provide some value in differentiating MSA-P from PD.

Objective To study the requirement of exogenous phosphorus for 2-year-old and 3-year-old ginseng seedings.Methods Two-and three-year-old ginsengs were used as experimental materials.Calcium superphosphate and phosphorus-free Hoagland solution were used as fertilizer,and the concentrations of P2O5 were set to be 0 mmol·L-1,0.5 mmol·L-1,1.5 mmol·L-1,3 mmol·L-1,6 mmol·L-1,8 mmol·L-1,respectively.The effects of different concentrations of phosphorus fertilizer on agronomic indexes,photosynthetic characteristics and accumulation of ginsenosides Rg1,Rb1 and Re were studied.Results The plant height,stem diameter,root weight,leaf area,relative content of chlorophyll,net photosynthetic rate and total saponins content of different year-old panax ginseng were significantly increased by applying phosphorus at 1.5-3.0 mmol·L-1.Among them,compared with the phosphorus-free group,the root weight of second-year ginseng was increased by 16％and the saponin content was increased by 24％;the root weight of third-year ginseng was increased by 89％and the saponin content was increased by 132％.The appropriate application rate of phosphorus fertilizer(phosphorus pentoxide)during the growth of second and third year ginseng was 26.6 mg and 53.3 mg of plant,respectively.Conclusion External application of suitable concentration of phosphorus fertilizer can enhance the external morphological characteristics of ginseng,improve photosynthetic physiological properties and increase the content of active ingredients.

Objective:To explore the efficacy and safety of the modified VIALE-A regimen in the treatment of elderly (>75 years old) patients with intermediate or high risk myelodysplastic syndromes (MDS).Methods:A retrospective case series analysis was conducted. Clinical data were collected from 7 MDS patients aged >75 years who were continuously treated with the modified VIALE-A regimen (azacytidine 75 mg/m 2 per day from day 1 to day 7 + venetoclax 200 mg per day from day 8 to day 28) from May 2021 to August 2023, and the patients were diagnosed according to the World Health Organization 2016 staging criteria and were determined to be at intermediate or high risk according to the revised International Prognostic Scoring System. The patients' efficacy and common adverse reactions were analyzed, and the Kaplan-Meier method was used for survival analysis. Results:Of the 7 patients, 5 were female and 2 were male; the median age [ M ( Q1, Q3)] was 84 years old (80 years old, 90 years old). One patient failed the initial treatment, and the remaining 6 achieved complete remission or complete remission in bone marrow after induction therapy with the modified VIALE-A regimen in 1-2 courses. By the follow-up cut-off date of December 31st, 2023, the median follow-up was 10 months (5 months, 18 months) and the median overall survival time was 18 months (95% CI: 0-39 months). Grade 3-4 myelosuppression occurred in all 7 patients during the induction phase, with granulocytopenia lasting 7-10 d; Of the 64 courses of maintenance treatment, 54 (84%) had grade 1-3 myelosuppression; non-hematologic adverse reactions were mild; no treatment interruptions occurred in the cumulative 73 courses. Conclusions:The modified VIALE-A regimen is moderately efficacious in elderly patients with intermediate or high risk MDS, with controllable adverse reactions.

Objective:To evaluate the effect of dexmedetomidine on the hippocampal brain-derived neurotrophic factor (BDNF)/tyrosine kinase receptor B (TrκB) signaling pathway in a rat model of cerebral ischemia-reperfusion (I/R).Methods:Forty-five clean-grade healthy Sprague-Dawley rats, half male and half female, aged 5-6 months, weighing 200-250 g, were divided into 3 groups ( n=15 each) using a random number table method: sham operation group (group S), cerebral I/R group (group I/R), and dexmedetomidine + I/R group (group Dex). A rat model of cerebral I/R injury was established by occluding the middle cerebral artery for 90 min followed by restoring perfusion. In group Dex, dexmedetomidine 50 μg/kg was intraperitoneally injected at 30 min before ischemia, while the equal volume of normal saline was intraperitoneally injected in S and I/R groups. Neurological deficit scores were evaluated at 12 h of reperfusion. The rats were anesthetized and sacrificed, and the hippocampus was isolated for determination of the percentage of cerebral infarct size (by TTC method), expression of BDNF and TrκB (by Western blot), and expression of BDNF mRNA and TrκB mRNA (by real-time polymerase chain reaction) and for microscopic examination of cell apoptosis (by TUNEL method). Results:Compared with group S, the neurological deficit scores and percentage of cerebral infarct size were significantly increased, the number of apoptotic hippocampal neurons was increased, and the expression of BDNF and TrκB protein and mRNA was down-regulated in I/R and Dex groups ( P<0.05). Compared with group I/R, the neurological deficit scores and percentage of cerebral infarct size were significantly decreased, the number of apoptotic hippocampal neurons was reduced, and the expression of BDNF and TrκB protein and mRNA was up-regulated in group Dex ( P<0.05). Conclusions:The mechanism by which dexmedetomidine alleviates cerebral I/R injury may be related to activating hippocampal BDNF/TrκB signaling pathways in rats.

Objective:To assess the treatment outcomes of endoscopic ultrasound-guided biliary drainage (EUS-BD) in patients with obstructive jaundice due to unsuccessful endoscopic retrograde cholangiopancreatography (ERCP).Methods:The clinical data of patients with obstructive jaundice who underwent EUS-BD due to ERCP failure at the Gastrointestinal Endoscopy Center of Beijing Friendship Hospital from September 2018 to November 2023, was retrospectively collected and analyzed. We explored the technical success, clinical success, and adverse events associated with EUS-BD.Results:In total, 43 EUS-BD procedures were performed in 39 patients with a technical success rate of 86.0% (37/43). The clinical success rate was 81.1% (30/37). Biliary drainage was not effectively achieved in seven cases, including two fatal cases and five cases of recurrent postoperative biliary obstruction. The incidence of adverse events was 21.6% (8/37), including two cases of postoperative bile leakage peritonitis, two cases of stent displacement, one case of stent dislocation, one case of perforation, and two cases of death.Conclusion:EUS-BD is a relatively safe and effective method for bile duct drainage, serving as a dependable alternative therapeutic option for patients with obstructive jaundice due to unsuccessful ERCP.

Objective:To investigate the clinical characteristics and interventions associated with drug-induced anaphylaxis in the emergency infusion room.Methods:Bases on the adverse drug reaction database from the emergency medicine center of the First Affiliated Hospital of Nanjing Medical University, clinical data of patients who experienced drug-induced anaphylaxis in the emergency infusion room between November 2019 and November 2023 were collected, including gender, age, history of previous adverse drug reactions, allergy history, Charlson comorbidity index, medication details, information related to drug-induced anaphylaxis (onset time, clinical manifestations), interventions, outcomes, and follow-up. The clinical characteristics and interventions in these patients were analyzed.Results:During the study period, a total of 398 772 patients in the emergency infusion room in our hospital received intravenous infusion of drugs. Of them, 625 cases developed adverse drug reactions (ADRs) and 75 cases developed drug-induced anaphylaxis, accounting for 0.02% (75/398 772) of the total infusion patients and 12.0% (75/625) of all ADR cases. Of the 75 patients with anaphylaxis, 30 cases (40%) were classified as grade Ⅱ, and 45 cases (60%) as grade Ⅲ, with no grade Ⅳ cases. The most common drugs involved in 75 cases of anaphylaxis were anti-infective drugs (41 cases, 54.7%). Drug-induced anaphylaxis exhibited diverse clinical manifestations, with cardiovascular symptoms being the most common, primarily varying degrees of transient hypotension (67 cases, 89.3%), followed by systemic and neurological symptoms, including profuse sweating (31 cases, 41.3%) and dizziness (28 cases, 37.3%). All 75 patients with anaphylaxis were treated with measures such as discontinuation of medication, replacement of infusion sets, rapid assessment of circulation and respiration, and monitoring of vital signs, of which 65 (86.7%) received rapid intravenous infusion for volume expansion, 6 (8.0%) received intravenous injection of glucocorticoids, 3 (4.0%) received intramuscular injection of 0.5 mg epinephrine, and 2 (2.7%) received antihistamines. All 75 patients showed improvement in symptoms, and no sequelae or deaths were found.Conclusions:In the emergency infusion room, the severity of anaphylaxis is mainly grade Ⅱ and Ⅲ with a good prognosis after timely intervention. The treatment measures mainly focus on rapid intravenous infusion for volume expansion, and the use of epinephrine is relatively low.