This article reported the diagnosis and management of a case of a child with Kabuki syndrome. Kabuki syndrome is characterized by distinct facial features, skeletal anomalies, abnormal skin texture, and intellectual disabilities, and is primarily caused by heterozygous mutations in the lysine methyltransferase 2D(KMT2D) gene. The onset in this patient was insidious, presenting with short stature and intellectual impairment. Genetic testing identified a pathogenic heterozygous variant in the KMT2D gene. This article focuses on analyzing the necessity and appropriateness of growth hormone therapy in children with Kabuki syndrome, and includes a review of relevant literature to improve clinicians′ understanding of this rare condition.

This article reported the diagnosis and management of a case of a child with Kabuki syndrome. Kabuki syndrome is characterized by distinct facial features, skeletal anomalies, abnormal skin texture, and intellectual disabilities, and is primarily caused by heterozygous mutations in the lysine methyltransferase 2D(KMT2D) gene. The onset in this patient was insidious, presenting with short stature and intellectual impairment. Genetic testing identified a pathogenic heterozygous variant in the KMT2D gene. This article focuses on analyzing the necessity and appropriateness of growth hormone therapy in children with Kabuki syndrome, and includes a review of relevant literature to improve clinicians′ understanding of this rare condition.

Objective To explore the correlation between vitamin D and antiphospholipid antibody(APLa)level in the patients with recurrent spontaneous abortion(RSA).Methods A total of 157 patients with RSA visiting the RSA outpatient department of RSA of Hangzhou Municipal First People's Hospital from January 2022 to April 2023 were selected by the prospective clinical study as the study subjects.Among them,34 RSA cases of vitamin D deficiency complicating APLa abnormality(the study group)conducted the vitamin D supplement intervention and their vitamin D and APLa levels were dynamically monitored;27 RSA patients with vitamin D deficiency and APLa abnormality without vitamin D supplement intervention before intervention or at the same time visiting the department of non-RSA outpatient of this hospital served as the control group.The general data and the relationship between vitamin D and APLa level were compared be-tween the two groups.The pregnant outcomes in the two groups were analyzed.Results There were no differences in the general data such as age and BMI between the two groups(P＞0.05).In the study group,the vitamin D was negatively correlated with the APLa level(P＜0.001);after treatment,the vitamin D level was significantly increased and the APLa level was significantly decreased(P＜0.001).The adverse pregnan-cy outcomes had statistical difference between the two groups(P=0.043).Conclusion Among the patients with RSA,the vitamin D may be negatively correlated with the APLa level.Monitoring and evaluating the vi-tamin D and APLa levels,and adopting the vitamin D intervention before pregnancy as early as possible could prevent the occurrence risk of adverse pregnant outcomes in RSA,thus improve the pregnant outcome.

Objective:To produce 161Tb from enriched 160Gd 2O 3 isotope-enriched target material and realize domestic production of the novel medical isotope 161Tb. Methods:The 160Gd 2O 3 isotope-enriched target material was irradiated with neutrons by the China Mianyang Research Reactor (CMRR). The no-carrier-added 161Tb product was obtained after the processes of target broken, sample dissolution, separation and purification with lanthanide (LN) resin and solution replacement with diglycolamide (DGA) column. Various key indicators such as γ spectral purity, metal impurity content, specific activity, radiochemical purity, and radioactive concentration were used to conduct the quality inspection and the control of 161Tb products. Results:161TbCl 3 of 33.4 GBq was obtained in a single time with the radioactive concentration of 16.8 GBq/ml, nuclear purity more than 99.9%, and radiochemical purity of 99.2%. Metal impurity content was met the established standards, with the specific activity of 6.02×10 17 Bq/mol. The radiochemical purities of 161Tb labeling with 1, 4, 7, 10-tetraazacyclododecane-1, 4, 7, 10-tetraacetic acid- D-Phe1-Tyr3-Thr8-octreotide (DOTATATE) after 0 and 72 h were 100% and 95.8% respectively. Conclusion:The preparation of no-carrier-added 161Tb by using LN resin has the advantages of high separation performance and high sample loading, which has great significance in the field of medical isotope preparation and lays a good nuclide guarantee for the research and development of domestic 161Tb-labeled drugs.

Coronary angiography (CAG) as a typical imaging modality for the diagnosis of coronary diseases hasbeen widely employed in clinical practices. For CAG-based computer-aided diagnosis systems, accurate vessel segmentation plays a fundamental role. However, patients with bradycardia usually have a pacemaker which frequently interferes the vessel segmentation. In this case, the segmentation of vessels will be hard. To mitigate interferences of pacemakers and then extract main vessels more effectively in CAG images, we propose an approach. At first, a pseudo CAG (pCAG) image is generated through a part of a CAG sequence, in which the pacemaker exists. Then, a local feature descriptor is employed to register the relative location of pacemaker between the pCAG image and the target CAG image. Finally, combining the registration result and segmentation results of main vessels and pacemaker, interferences of pacemaker are removed and the segmentation of main vessels is improved. The proposed method is evaluated based on 11 CAG images with pacemakers acquired in clinical practices. An optimization ratio of the Dice coefficient is 12.04%, which demonstrates that our method can remove overlapping pacemakers and achieve the improvement of main vessel segmentation in CAG images.Our method can further become a helpful component in a CAG-based computer-aided diagnosis system, improving its diagnosis accuracy and efficiency.
Humans ; Coronary Angiography/methods* ; Diagnosis, Computer-Assisted ; Pacemaker, Artificial ; Image Processing, Computer-Assisted/methods* ; Algorithms

Background: Postherpetic neuralgia (PHN) is the most common complication of acute herpes zoster. The treatment of PHN remains a challenge for clinical pain management. Despite the effectiveness of anticonvulsants, antidepressants, and lidocaine patches in reducing PHN, many patients still face intractable pain disorders.In this randomized controlled study, we evaluated whether hydromorphone through intravenous patient-controlled analgesia (IV PCA) was effective in relieving PHN. Methods: Patients with PHN were randomly divided into two groups, one group received oral pregabalin with IV normal saline, another group received oral pregabalin with additional IV PCA hydromorphone for two weeks. Efficacy was evaluated at 1, 4, and 12 weeks after the end of the treatments. Results: Two hundred and one patients were followed up for 12 weeks. After treatment, numerical rating scale (NRS) score of patients in the hydromorphone group was significantly lower than that of the control group, and the difference of NRS scores between the two groups was statistically significant at 4 and 12 weeks after treatment. The frequency of breakthrough pain in the hydromorphone group was significantly lower than that in the control group 1 and 4 weeks after treatment.After treatment, the quality of sleep in the hydromorphone group was significantly improved compared with the control group. The most common adverse reactions in the hydromorphone group were dizziness and nausea, with no significant respiratory depression. Conclusions IV PCA hydromorphone combined with oral pregabalin provides superior pain relief in patients with PHN, which is worthy of clinical application and promotion.

Background: Postherpetic neuralgia (PHN) is the most common complication of acute herpes zoster. The treatment of PHN remains a challenge for clinical pain management. Despite the effectiveness of anticonvulsants, antidepressants, and lidocaine patches in reducing PHN, many patients still face intractable pain disorders.In this randomized controlled study, we evaluated whether hydromorphone through intravenous patient-controlled analgesia (IV PCA) was effective in relieving PHN. Methods: Patients with PHN were randomly divided into two groups, one group received oral pregabalin with IV normal saline, another group received oral pregabalin with additional IV PCA hydromorphone for two weeks. Efficacy was evaluated at 1, 4, and 12 weeks after the end of the treatments. Results: Two hundred and one patients were followed up for 12 weeks. After treatment, numerical rating scale (NRS) score of patients in the hydromorphone group was significantly lower than that of the control group, and the difference of NRS scores between the two groups was statistically significant at 4 and 12 weeks after treatment. The frequency of breakthrough pain in the hydromorphone group was significantly lower than that in the control group 1 and 4 weeks after treatment.After treatment, the quality of sleep in the hydromorphone group was significantly improved compared with the control group. The most common adverse reactions in the hydromorphone group were dizziness and nausea, with no significant respiratory depression. Conclusions IV PCA hydromorphone combined with oral pregabalin provides superior pain relief in patients with PHN, which is worthy of clinical application and promotion.

Hepatocellular carcinoma (HCC) is one of the most common malignant tumors in China. Currently, hepatectomy, radiofrequency ablation, interventional therapy, and so on are widely used in the treatment of liver cancer; however the 5-year survival rate of patients is still very poor. The onset of liver cancer is insidious, and most patients do not have the opportunity to undergo surgery when they are initially diagnosed. In addition, patients with advanced liver cancer lack effective treatment, which is mainly due to chronic inflammation of the liver. Immunotherapy has great potential advantages in the treatment of liver cancer, so it has attracted more and more researchers' attention. Importantly, with the development of biomedical science into the era of precision medicine, more precise and effective immunotherapy strategies for HCC treatment have been explored, thus bringing new hope to HCC patients. This article reviews the research status and progress of liver cancer immunotherapy in the context of precision medicine.

Objective To establish a scientific and rational narrative medical curriculum standards for clinical medicine postgraduates to improve their medical humanistic quality.Methods On the basis of literature review and group discussion,the standards of narrative medical curriculum for postgraduates majoring in clinical medicine were preliminarily constructed,and the Delphi method was used to evaluate and screen the indicators.An expert consultation questionnaire was drawn up for 40 selected experts to finalize the curriculum standards for narrative medicine.The small-scale teaching practice was carried out in postgraduates of the Department of Hepatobiliary Surgery in Southwest Hospital of Chongqing,and the problems in the process of teaching implementation were collected.Results Experts' opinions tended to be consistent after two rounds of consultation.Finally,the study confirmed a theoretical and practical narrative medical curriculum which consisted of introducing narrative medicine theory,reading narrative medicine related books,watching the medical narrative film and television works,and writing the narrative medical records.Through the small-scale teaching practice,we collected a variety of problems,for which,we sorted out and analyzed,and finally put forward the improvement scheme.Conclusion The narrative medical curriculum for clinical medicine postgraduates is reasonable,which can lay the foundation for the promotion of clinical medical postgraduates' medical humanistic quality and doctor-patient communication ability,and accelerate the popularization of narrative medicine idea in our country.

OBJECTIVE:To observe the efficacy and safety of Sanjiao fuzheng mixture combined with concurrent chemoradiotherapy of paclitaxel and nedaplatin in the treatment of local advanced non-small cell lung cancer (NSCLC). METHODS:A total of 68 patients with local advanced NSCLC selected from our hospital during Jan. 2015 to Jan. 2017 were divided into control group and observation group according to random number table,with 34 cases in each group. Control group was given Paclitaxel injection 135 mg/m2 intravenously,d1+Nedaplatin for injection 75 mg/m2 intravenously,d3,21 d as a treatment course,for 2 courses;routine fractionated intensity modulated radiation therapy,2 Gy each time,5 times a week,60-70 Gy in total;given 2 cycles of primary chemotherapy continuously after radiotherapy. Observation group was additionally given Sanjiao fuzheng mixture 250 mL/d,divided into 3 times,till the end of treatment,on the basis of control group. Clinical efficacies were observed in 2 groups. The levels of nutritional indexes (BMI,PAB,ALB,Hb) and tumor markers (SCC-Ag,CEA,TK1, CYFRA21-10) before and after treatment were observed. The occurrence of ADR were recorded. RESULTS:There was no statistical significance in the total effective rate between 2 groups (observation group 82.35％ vs. control group 73.53％)(P>0.05). After treatment,the levels of BMI,PAB,ALB and Hb in 2 groups were significantly lower than before treatment,but the observation group was significantly higher than the control group. The levels of SCC-Ag,CEA,TK1 and CYFRA21-1 in 2 groups were significantly lower than before treatment,and the observation group was significantly lower than the control group,with statistical significance (P<0.05). The incidence of Ⅲ-Ⅳ degree aleucocytosis,Ⅰ-Ⅱ degree hemoglobin reduction and thrombocytopenia in observation group were significantly lower than control group, with statistical significance (P<0.05). CONCLUSIONS:The efficacy of Sanjiao fuzheng mixture combined with concurrent chemoradiotherapy of paclitaxel and nedaplatin is similar to that of concurrent chemoradiotherapy of paclitaxel and nedaplatin for localadvanced NSCLC,which can improve nutritional status significantly,and reduce the incidence of ADR.