Molecular genetic characteristics of a family which coinheritance of rare-88 C>G (HBB:c.-138 C>G) β-thalassemia mutation with α-thalassemia and review of the literature / 中华预防医学杂志

The molecular genetic characteristics of a family with rare -88 C>G (HBB: c.-138 C>G) β-thalassemia gene mutation were studied using cohort study. The cohort study was conducted from June to August 2022 by Prenatal Diagnosis Center of Sanya Women and Children's Hospital Managed by Shanghai Children's Medical Center. The phenotype and genotype were analyzed by hematological cytoanalyzer, automatic electrophoretic analysis system, and next-generation sequencing (NGS). And then, Sanger sequencing was used to verify the rare gene results. The results showed that the proband, her father, her uncle and her younger male cousin had discrete microcytosis (MCV 70.1 fl, 71.9 fl, 73.1 fl and 76.6 fl, respectively) and hypochromia (MCH 21.5 pg,22.0 pg,22.6 pg and 23.5 pg, respectively), elevated hemoglobin A2 level (5.3%, 5.4%, 5.4% and 5.5%, respectively), slightly elevated or normal fetal hemoglobin (Hb F), but no anemia. The proband was identified to have co-inherited ɑ-thalassemia (Hb Westmead gene heterozygous mutation, ɑwsɑ/ɑɑ) and β-thalassemia with a rare -88 C>G (HBB: c.-138 C>G) heterozygous mutation (β-88 C>G/βN). Her mother had the same α-thalassemia as the proband. Her father, her uncle and her younger male cousin had the same rare -88 C>G heterozygous mutations as the proband. While her grandmother and younger brother were not carrier of thalassemia. In conclusion, 4 cases of rare -88 C>G(HBB:c.-138 C>G) heterozygous mutation had been detected in a Chinese family. Carriers of this beta-thalassemia are clinically asymptomatic. This study enriches the knowledge of the thalassemia mutation spectrum in Chinese people and provides valuable information for genetic counseling, prenatal diagnosis, and prevention of thalassemia, providing a scientific basis for improving the quality of birth population and preventing birth defects.

Research and Development Strategy of Classical Formula Compound Preparation / 中国实验方剂学杂志

Although the country has promulgated a list of 100 classical famous formula,there are still many confusions and choices in the development of compound preparations from classical prescriptions. In this paper,the development strategy of classical formula compound preparation was elaborated from three aspects:the evaluation of draggability,the consideration of industrialization and the clinical orientation. The draggability evaluation includes pharmacy and preclinical safety. It should focus on the factors such as substance benchmark,dosage,toxic herbal medicines,clinical use and so on. Industrialization considerations need to focus on how to use modern industrialization methods to prepare modern compound preparations with the same quality as material benchmarks. The use of extracts may be an effective way to solve the problems of low utilization rate of decoction pieces and inadequate industrial advantages. Clinical orientation should be clear about the main effect,take into account the secondary effect, pay attention to the negative effect, and consider the level of clinical value. A series of corresponding development strategies and ideas are proposed in order to provide references for enterprises and researchers who select and layout classical famous formula, to promote the development of classical prescription compound preparation.

Present situation of science and technology of traditional Chinese medicine in China / 中国中药杂志

This paper explains the status of science and technology of traditional Chinese medicine in China. Basic conclusions are as follows: policy environment is improved step by step, R&D funds and R&D personnel in traditional Chinese medicine field are increased continuously, and a lot of achievements have been got in traditional Chinese medicine field.

Application of titrated target-controlled infusion anesthesia in laparoscopic colorectal surgery / 中华胃肠外科杂志

<p><b>OBJECTIVE</b>To evaluate the effect of titrated target-controlled infusion with propofol and remifentanil on anesthetics consumption and anesthesia depth in patients undergoing elective laparoscopic colorectal surgery.</p><p><b>METHODS</b>Sixty ASA I-III patients for elective laparoscopic colorectal surgery were enrolled. Titrated target-controlled infusion (TCI) with propofol and remifentanil was performed. Plasma concentration of the drugs was administered by titrated method to maintain bispectral index (BIS) in the range of 40-60 with systolic blood pressure (SBP) fluctuation within 20% of the basic value. BIS, SBP, plasma concentration of propofol and remifentanil were recorded at different time points. Awareness during operation was inquired postoperatively.</p><p><b>RESULTS</b>During the entire anesthesia period, the blood pressure was stable and BIS was maintained less than 60. There was no awareness during operation. The plasma concentrations (95% confidence interval) for TCI of propofol and remifentanil were 2.55-2.65 mg/L and 4.09-4.26 μg/L respectively when existing surgical stimulation during anesthesia, and the plasma target concentration of propofol was lower than the recommended dosages.</p><p><b>CONCLUSION</b>Titrated target-controlled infusions with propofol and remifentanil for elective laparoscopic colorectal surgery can maintain proper anesthesia depth and reduce the drug consumption.</p>