Research Development in Patients with Olmsted Syndrome / 罕见病研究

Olmsted syndrome (OS) is an extremely rare hereditary skin disease, that is usually characterized by mutilating palmoplantar keratoderma (PPK) and periorificial keratotic plaques. The diagnosis of this disease depends primarily on the clinical presentation and OS has to be differentiated from other disorders associated with hyperkeratosis. In recent years, there have been many advances in molecular genetic research on the pathogenesis of the disease. The genes that can cause disease after specific mutations include TRPV3, MBTPS2/S2P and PERP. Therefore, genetic testing has become one of the important methods for the diagnosis of this disease.OS treatment is difficult, and conventional therapy uses topical drugs to soften the cuticle of the skin, or oral Avi A.Excision of palmoplantar keratosis may also be used for constricting rings that severely restrict movement, but they often reoccur after initial improvement. In terms of precision treatment, researchers have tried the small molecule drugs erlotinib and sirolimus and have achieved some results. This paper summarizes the etiology, pathogenesis, clinical manifestations, diagnosis, treatment and prognosis of OS, in order to improve the clinicans' awareness of OS.

Teaching practice of"Precision Treatment for Oncology"course in Peking Union Medical College / 基础医学与临床

Objective To investigate the"Precision Treatment for Oncology"course,which is offered by Peking Union Medical College.The course is aiming for collecting students'opinions and suggestions to optimize the course setting and improve the teaching quality.Methods This investigation collected data by questionnaire survey and in-terviewing from Dec.2021 to Feb.2022.The questionnaire data and interview data were analysed.Results Thirty-six quantitative questionnaires and five qualitative questionnaires were included.Improving professional knowledge and personal interests were two main reasons for students to choose courses,which existed statistical differences on different aspects of course evaluation.The overall score evaluated by medical students was 9.22 and 94.4%of the students thought the course achieved the desired goal.The scores of teachers'teaching attitude,frontier and practi-cality of course content were 9.81,9.08 and 8.86 points respectively.The students hoped to increase the case analysis practice and thematic discussion activities to enrich the teaching form.Conclusions This elective course for graduate is recognized and accepted by students.More efforts are needed in future to optimize curriculum set-tings,innovate teaching methods,improve teaching quality and explore new pathways for medical graduate educa-tion matching the needs of students.

The biological mechanism and clinical application of boron neutron capture therapy / 中华放射医学与防护杂志

Boron neutron capture therapy(BNCT), a promising radiotherapy, belongs to precision treatment for cancers. BNCT can accurately kill cancer cells and protect normal cells at the same time relying on 10B compounds with high efficacy. The research about developing new 10B compounds is in progress, and novel and efficient 10B compounds are emerging, which greatly facilitate broadening the advantages and efficacy of BNCT. Considering the mixed rays generated from the BNCT process, its biological effects on tumor cells are relatively complex, and related studies are still lacking. The molecular mechanisms underlying BNCT need to be elucidated further. BNCT has been applied in the treatment of malignant brain tumors, head and neck cancers, and malignant melanoma with favorable curative effects. This review mainly focuses on the development of 10B compounds, biological mechanisms, potential advantages, and clinical applications.

Dawn of Targeted Therapy Using Claudin18.2 for Gastric Cancer / 肿瘤防治研究

In recent years, significant advancements in molecular biology have paved the way for novel targeted therapeutic strategies for gastric cancer treatment. Claudin18, which is an important structural protein involved in tight junctions between cells, and its subtype Claudin18.2 (CLDN18.2), which is specifically expressed in differentiated gastric epithelial cells, have emerged as novel therapeutic targets for patients with gastric cancer. This article aims to systematically review the latest developments in CLDN18.2 research in the fields of basic and clinical gastric cancer studies to provide a reference for clinical practice.

Progress of single-cell sequencing in lymphoma / 白血病·淋巴瘤

Single-cell sequencing (SCS) sequences the genetic information of a single cell to better understand the differences amongst cells and reveal the unique changes of each cell type. The specific analysis of cell subsets at the single-cell level can accurately evaluate tumor cells and microenvironment cells to reveal the complexity of molecular components and the difference from the corresponding components in non-malignant tissues. Lymphoma is highly heterogeneous, some have unknown pathological types, etiology and poor prognosis. SCS is helpful to clarify the molecular mechanisms of lymphomagenesis and pathological staging, and guide clinical practice. This article reviews SCS and its application in lymphoma.

Autophagy and cancer treatment: four functional forms of autophagy and their therapeutic applications / 浙江大学学报（英文版）（B辑：生物医学和生物技术）

Cancer is the leading cause of death worldwide. Drugs play a pivotal role in cancer treatment, but the complex biological processes of cancer cells seriously limit the efficacy of various anticancer drugs. Autophagy, a self-degradative system that maintains cellular homeostasis, universally operates under normal and stress conditions in cancer cells. The roles of autophagy in cancer treatment are still controversial because both stimulation and inhibition of autophagy have been reported to enhance the effects of anticancer drugs. Thus, the important question arises as to whether we should try to strengthen or suppress autophagy during cancer therapy. Currently, autophagy can be divided into four main forms according to its different functions during cancer treatment: cytoprotective (cell survival), cytotoxic (cell death), cytostatic (growth arrest), and nonprotective (no contribution to cell death or survival). In addition, various cell death modes, such as apoptosis, necrosis, ferroptosis, senescence, and mitotic catastrophe, all contribute to the anticancer effects of drugs. The interaction between autophagy and these cell death modes is complex and can lead to anticancer drugs having different or even completely opposite effects on treatment. Therefore, it is important to understand the underlying contexts in which autophagy inhibition or activation will be beneficial or detrimental. That is, appropriate therapeutic strategies should be adopted in light of the different functions of autophagy. This review provides an overview of recent insights into the evolving relationship between autophagy and cancer treatment.

Autoinflammatory Diseases: a Rapidly Advancing Field / 罕见病研究

Autoinflammatory diseases (AIDs) are a group of genetic disorders characterized by generalized inflammatory responses and multiorgan involvement primarily caused by dysregulated innate immunity. Since the introduction of this concept, AIDs has been a rapidly advancing research field including at least 56 diseases, deepening the understanding of the interaction between innate and adaptive immunity. Despite distinct features displayed by AIDs of different categories, genetic testing remains essential for highly suspected cases. The diagnosis of undifferentiated systemic autoinflammatory diseases, omics-powered precision stratification and targeted therapy for AIDs are promising research areas in the future. This article introduces the rapid progresses in AIDs concept, mechanism, and classification. We present a summary of the characteristic clinical phenotype, as well as the current diagnostic challenges and treatment experiences, in the hope of raising the awareness of these disorders.

Efficacy of precision treatment in multidrug-resistant pulmonary tuberculosis based on proportion method for drug susceptibility test / 中华传染病杂志

Objective:To explore the precision treatment effect of multidrug-resistant pulmonary tuberculosis (MDR-PTB) based on the proportion method for drug susceptibility test, and to provide a scientific basis for formulating MDR-PTB treatment plan.Methods:One hundred and eighty patients with MDR-PTB treated in Shenzhen Center for Chronic Disease Control from January 5, 2016 to April 30, 2018 were enrolled. The initial treatment plan after diagnosis was six months of amikacin (AM), pyrazinamide (Z), levofloxacin (LFX), ethambutol (E), prothionamide (PTO) and 18 months of Z, LFX, E, PTO. According to whether proportion method for drug susceptibility test for 10 commonly used drugs was implemented, patients were divided into precision treatment group and empirical treatment group. In the precision treatment group, the treatment plans were adjusted according to the results of the drug susceptibility test. The treatment plans and disease outcomes of the two groups of patients were retrospectively analyzed. Chi-square test was used for statistical analysis.Results:Among the 180 patients, there were 113 patients in the precision treatment group and 67 patients in the empirical treatment group. The drug resistance rates of the precision treatment group from low to high were: capromycin (CM) (0, 0/113), AM (2.65%, 3/113) and kanamycin (KM) (2.65%, 3/113), para-aminosalicylic acid (PAS) (7.96%, 9/113), PTO (11.50%, 13/113), ofloxacin (OFX)(38.05%, 43/113), E (39.82%, 45/113), and streptomycin(S) (76.99%, 87/113). In the precision treatment group, the drugs were adjusted for 104 person-times according to the proportion method for drug susceptibility test during the treatment, from low to high: AM (3 person-times), PTO (13 person-times), LFX (43 person-times) and E (45 person-times). The treatment success rate of the precision treatment group was 78.8%(89/113), which was higher than that of the experience treatment group (52.2%(35/67)), the difference was statistically significant ( χ2=13.805, P=0.000 2). In the precision treatment group and empirical treatment group, there were no statistically significant differences of alanine aminotransferase elevated (32.3%(31/96) vs 34.0%(18/53)), serum creatinine elevated (4.2%(4/96) vs 5.7%(3/53)), and white blood cell count decreased (24.0%(23/96) vs 22.6%(12/53)) (all P>0.05). Conclusion:The traditional treatment plan based on the proportion method for drug susceptibility test has a high success rate in the treatment of MDR-PTB, which is still a worthy choice.

Research Progress of Single Cell Sequencing in Lung Cancer / 中国肺癌杂志

Lung cancer is the malignant tumor with the highest mortality rate in the world. Heterogeneity of lung cancer, usually studied by sequencing technology, is considered to have important clinical significance in current studies. However, general sequencing technology can only explain the differences between samples integrally and its resolution is not enough to describe the differences between the individual cells. Therefore, people urgently hope to understand the cell type, state, subgroup distribution in the tumor microenvironment and the communication behavior between cells in the single cell level. Single-cell sequencing technology solves this problem. Using this technique will contribute to further understanding the mechanism of the occurrence and development of lung cancer, discovering new diagnostic markers and therapeutic targets, and providing theoretical references for the precise treatment of lung cancer patients in the future. This article reviews the progress of single-cell sequencing technology and focuses on its research on lung cancer tumor heterogeneity, tumor microenvironment, invasion and metastasis, treatment response, and drug resistance.
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Progress of Clinical Research on Individualized Precision Treatment of Helicobacter pylori Infection / 胃肠病学

Helicobacter pylori (Hp) can cause a variety of gastric diseases and has a high infection rate. With the widespread use of antibiotics and the influence of geographical, strain and host differences, the failure rate of Hp eradication and reinfection rate are increasing. Therefore, there is a need for individualized precision treatment of refractory Hp infection. This article reviewed the progress of clinical research on individualized precision treatment of Hp infection.

Precision treatment of lung cancer at 2019 European Lung Cancer Conference: Advances and prospects / 医学研究生学报

The scientificity and value of precision medicine are adequately reflected in the diagnosis and treatment of lung cancer. Numerous drugs for lung cancer are being developed and the therapeutic data constantly updated. Study of the targeted molecular therapy is concentrated on the optimal selection, combination and administration of drugs for common mutation targets after drug resistance, and that of the immunotherapy on more precise stratification. The clinical data on the targeted therapy and immunotherapy for lung cancer were updated at the European Conference on Lung Cancer (ECLC) in 2019. This paper focuses on the data from the ECLC on the studies of the targeted therapy for lung cancer, relating the epidermal growth factor receptor, anaplastic lymphoma kinase, ROS1 fusion, and immunotherapy for elderly patients with lung cancer as well as for those with different PDL1 expression levels, aiming to provide some reference for more scientific, standardized and precise administration of drugs in clinical practice.

Precision therapy of acute myeloid leukemia: A new focus / 第二军医大学学报

Acute leukemia is a malignant tumor with the highest morbidity and mortality in patients younger than 35 years old. Three-year overall survival of middle-risk patients receiving conventional chemotherapy is only 30%-50%, although the stratified chemotherapy based on cell and molecular genetics has improved the overall survival in recent years. To further optimize the treatment, we used flow cytometry in combination with fluorescent in situ hybridization to detect the competing of leukemia stem cells with hemopoietic stem cell, which could diagnose the relapse of patients 2-3 months ahead of time, thus allowing early intervention and improving the survival rate. In allogeneic hematopoietic stem cell transplantation, we have designed a novel conditioning regimen, which balanced the graft-versus-host disease and graft-versus-leukemia effect and reduced transplant-related mortality. This is a new focus on acute leukemia treatment and a further extension of precision therapy in leukemia.

Application of droplet digital PCR in the precision treatment of breast cancer / 中国肿瘤临床

In the context of precision medicine, although individual treatment of breast cancer under the guidance of molecular classi-fication has become the norm, a precision treatment program with increased efficiency and quality is still required. Compared with the traditional real-time fluorescent quantitative polymerase chain reaction (PCR), the droplet digital PCR (ddPCR) has obvious advantages in the detection of rare mutations and copy number variations, as well as the integration with the second-generation-sequencing tech-nology. This paper reviews the application of a ddPCR platform in different breast cancer subtypes and explores new horizons of breast cancer research through the ddPCR technology.

Novel biomarkers for diagnosis and precision treatment of pulmonary arterial hypertension / 药物评价研究

Pulmonary arterial hypertension is characterized by elevated pulmonary arterial pressure with high disabled rate and lethality.Since many causes could lead to pulmonary arterial hypertension,the mechanism studies were developed rapidly,and some new therapeutic targets have been explored according to the multiple pathogenic mechanisms and pathways.We summarized the potential and novel biomarkers of the mechanisms associated with pulmonary arterial hypertension,and categorized based on their relationship to endothelial cell dysfunction,inflammation,epigenetics,cardiac function,oxidative stress,extracellular matrix,etc.The biomarkers can help for diagnosis,sorting,disease severity assessment of PAH,in order to provide the basis for precision treatment and new therapeutic target development.

Advance of molecular subtyping and precise treatment for gliomas / 中华外科杂志

With the advance of genomics research, there have been a new breakthrough in the molecular classification of gliomas. Glioblastoma (WHO grade Ⅳ) could be subtyped to proneural, neural, classical, and mesochymal according to the mRNA expression. Lower grade gliomas (WHO grade Ⅱ and Ⅲ) could be divided into 5 types using 1p/19q co-deletion, isocitrate dehydrogenase(IDH) mutation, and TERTp (promotor region) mutation. In 2016, a new classification of tumors of the central nervous system was proposed, and some new markers such as IDH1 mutation were introduced into the diagnosis of gliomas. Genotype and phenotype were integrated to diagnose gliomas. In the meantime, precision treatment for gliomas has also been vigorously developed. This article reviewed recent studies on the molecular diagnosis, precise chemotherapy, targeted therapy, and immunotherapy for gliomas to provide new ideas and strategies for precise diagnosis and treatment of gliomas.

Attention should be paid to hereditary ovarian cancer / 西安交通大学学报(医学版)

The occurrence of 20 to 25 percent of ovarian cancer is associated with genetic factors.Hereditary ovarian cancer includes genetic ovarian cancer and familial ovarian cancer.The genetic characteristics of tumors and the development of gene testing technology make it possible to detect tumor-related mutational genes by testing the gene of the proband and thus identify the other family members at risk and intervene early so as to realize early prevention and detection of the cancer.The paper reviews the genetic basis and pathogenesis of hereditary ovarian cancer as well as methods of detecting mutational genes, management of the proband, problems at present, and disease prevention for high-risk individuals.It stresses that we should pay attention to hereditary ovarian cancer in clinical work, identify the proband, and make comprehensive evaluation of risks of the patients` relatives so as to provide individualized guidance and carry out the concept of precision medicine.

Opportunities of precision medicine for triple-negative breast cancer / 中国肿瘤临床

Triple-negative breast cancer (TNBC) is a heterogeneous disease. Recently, the development of a gene expression profile fa-cilitated the re-classification of TNBC into six new subtypes, which show varied sensitivities to different therapies. In the era of preci-sion medicine, precision therapy may be directed at various potentially actionable molecular mutations in different subtypes of TNBC.

Advances in the precision treatment of colorectal liver metastases / 中国肿瘤临床

Liver metastasis is one of the main causes of treatment failure in colorectal cancer, and the key to improve the efficacy of treatment is to adopt precision therapy. Oligometastatic classification clearly defines the treatment methods and goals for distinguish-ing liver metastases, as well as promotes nonsurgical methods for local treatments. In addition to RAS oncogene, other biomarkers with prognostic and therapeutic predictive values urgently need to be identified. Precision therapy encompasses the entire course of optimal treatment in colorectal liver metastases (CRLM) including the following:optimization of therapy sequence for initial resectable liver metastases, treatment predictive value of KRAS oncogene for liver resection, selection of sensitive subgroups for conversion ther-apy, application of the optimal follow-up strategy, and formulation of individual comprehensive treatment regimens. This review focus-es on the recent progress of precision treatment for CRLM.