Prospect on medical treatment of pulmonary mucinous adenocarcinoma / 中国综合临床

Pulmonary mucinous adenocarcinoma is a subtype of lung adenocarcinoma, among which invasive mucinous adenocarcinoma (IMA) is the most common subtype and is easily misdiagnosed as pneumonia. Its etiology and pathogenesis are unclear and may be related to gene mutations and other factors. Due to its relative rarity and few related studies, guidelines do not provide advices on its treatment. KRAS mutations are common in IMA patients, and Sotorasib may be effective against KRAS G12C mutated IMA. NRG1 fusion is considered to be an important driver of IMA, and afatinib may be effective in treating IMA with NRG1 fusion/rearrangement. PD-L1 expression is very low in IMA patients, while B7-H3 expression is high, so B7-H3 may be a potential immunotherapeutic target.

Genetic analysis of three patients with Kleefstra syndrome / 中华医学遗传学杂志

OBJECTIVE@#To analyze the clinical and genetic features of three patient diagnosed with Kleefstra syndrome.@*METHODS@#Whole exome sequencing (WES) was carried out for the probands and their parents. Suspected variants were validated by Sanger sequencing. Copy number variations (CNV) were detected by CNV-seq and validated by real-time PCR.@*RESULTS@#Proband 1 was found to carry a de novo heterogeneous variant (c.823+1G>T) of the EHMT1 gene, which may affect its expression. Based on the guidelines of the American College of Medical Genetics and Genomics, the variant was predicted to be pathogenic (PVS1+PS2+PM2). Proband 2 was found to carry a de novo missense variant c.439C>G (p.L147V) of the EHMT1 gene, which was predicted to be likely pathogenic (PS2+PM1+PM2+PP3). Proband 3 was found to carry a heterozygous 520 kb deletion at 9q34.3 by CNV-seq. The deletion has encompassed the whole of the EHMT1 gene. Real-time PCR has detected no CNV of this region in her parents.@*CONCLUSION@#Variants of the EHMT1 gene probably underlay the disease in these patients. Genetic testing has provided a basis for their clinical diagnosis.

Clinical and genetic analysis of four patients with congenital neutropenia / 中华医学遗传学杂志

OBJECTIVE@#To delineate the clinical feature and genetic basis of four patients with congenital neutropenia.@*METHODS@#All patients were subjected to whole exome sequencing (WES). Suspected variants were verified by Sanger sequencing.@*RESULTS@#The patients (two boys and two girls), aged 7 to 15 months, suffered from neutropenia and recurrent infections. Bone marrow smears showed a significant decrease in the proportion of rod-shaped and lobulated granulocytes, which suggested impaired development and maturation of bone marrow neutrophils. WES has discovered heterozygous variants (c.496G>A, c.58C>G, c.391G>A and IVS1+5T>A) of the ELANE gene in the patients. Among these, c.58C>G and IVS1+5T>A were unreported previously. Follow up revealed patients 1 and 3 had periodic neutropenia, while patients 2 and 4 had severe congenital neutropenia. After attaining the definite diagnosis, the patients were treated symptomatically.@*CONCLUSION@#The main clinical feature of congenital neutropenia is refractory recurrent bacterial infections, for which mutations of the ELANE gene are a common cause. Two novel pathogenic ELANE variants have been discovered in this study.

Applied research of appointment checkup process optimization based on the theory of constraints / 中华医院管理杂志

Objective To discuss the effect of the appointment checkup process optimized with the theory of constraints in shortening the appointment waiting time. Methods The patients who underwent ultrasonography, magnetic resonance imaging examination, and CT examinations were selected from the First Hospital of Shanxi Medical University from March 2017 to February 2018. Firstly, we applied the theory of constraints to investigate and analyze the status of medical technology examinations. Secondly, we optimized the process according to the results of the investigation. Finally, we compared the appointment duration of medical examinations before and after the optimization. Results Thanks to support of departments involved, the longest ultrasonography appointment waiting time was reduced from 3. 74 days to 1. 32 days. The longest appointment time for magnetic resonance imaging examination was reduced from 3. 74 days to 1. 33 days. The longest appointment waiting time for CT was reduced from 2. 62 days to 1. 55 days, and the goal of completing the checkup the day after the prescription was reached in the continuous improvement phase. Conclusions The optimization of the medical technology examination appointment process based on the constraint theory can effectively shorten the checkup appointment duration, maximize utilization of medical resources and optimize the services.

Optimizing the Ultrasonic Extraction of Gardenia Oils from Gardenia Jasminoides Ellis by Response Surface Methodology / 世界科学技术-中医药现代化

This study aimed to optimize the ultrasonic extraction of gardenia oils from Gardenia jasminoides Ellis.by response surface analysis methodology (RSM).The duration of extraction,ratio of liquid to materials and extracting times were selected as impact factors based on single-factor experiment.RSM was adopted to learn the effects of the three factors on the extraction rate of Gardenia oil from Gardeniajasminoides Ellis.As a result,it was found that the duration of extraction was 28.7 min,while the ratio of liquid to materials was 11.62:1,and the number of extracting times were 3.36.Under this extracting condition,the average extraction rate of the oil was 13.5％ according to three validation experiments,fitting the predicted value well.In conclusion,it was demonstrated that the ultrasonic extraction method effectively improved the extraction rate of gardenia oil,providing a certain basis for the development and utilization of gardenia oil.