1.Advances in the diagnosis and treatment of occult inguinal hernia
Mengqi LI ; Jiufeng WEI ; Hongsheng CHEN
International Journal of Surgery 2021;48(4):283-288
With the advent of laparoscopic inguinal hernia repair, occult inguinal hernias not reported by physical examination are frequently found during surgery. Occult inguinal hernia is an early inguinal hernia, which is easy to be ignored because its clinical symptoms are not obvious. Currently, the best diagnostic method for occult inguinal hernia is laparoscopy, Noninvasive tests such as ultrasound and MRI should be performed in patients with first symptoms. With the increase of age, abdominal wall strength decrease, and the proportion of occult inguinal hernia requiring treatment will also increase, doctors need to choose a reasonable treatment plan according to the actual situation of patients. The key to the diagnosis and treatment of occult inguinal hernia lies in making clear its definition and establishing uniform diagnostic criteria. Through reasonable and accurate preoperative examination combined with laparoscopic techniques and the adjustment of surgical approaches, occultic defects can be found and repaired. Individualized treatment for different populations can avoid future symptoms and reduce additional surgical risks.
2.Effects of tumor-associated fibroblasts in the development of colorectal cancer and its research progress
Qiang LV ; Hongsheng CHEN ; Guodong LI ; Jiufeng WEI
Practical Oncology Journal 2018;32(3):275-279
Cancer-associated fibroblasts(CAFs)are one of the most important cellular components in the external microen-vironment of tumors. CAFs can interact with tumor cells and secrete a variety of soluble factors such as growth factors,chemokines,and so on. CAFs are also involved in the proliferation,invasion,migration,metastasis and drug resistance of colorectal cancer through regu-lating multiple signaling pathways that play a key role in the progression of colorectal cancer. Recent studies have found that CAFs re-lated markers and genes can be used as reference indicators for the predicting prognosis of colorectal cancer. Therefore,targeting CAFs may be a key target for early diagnosis,treatment and prognosis of colorectal cancer. This article summarizes the characteristics of CAFs,recruitment and activation process,and its role in the development of colorectal cancer in order to provide a new scientific di-rection for the mechanism of action and clinical application of CAFs in colorectal cancer.
3.Oocyte maturation arrest due to compound heterozygous variants of the PATL2 gene in a case
Qinghua LEI ; Jiufeng LI ; Xianqiong ZHOU ; Victor Wei ZHANG
Chinese Journal of Medical Genetics 2022;39(7):759-762
Objective:To explore the genetic etiology of a patient with primary infertility and repeated failure of assisted reproductive technology.Methods:Peripheral blood samples of the patient and her husband were collected for the extraction of genomic DNA and clinical exome sequencing. Candidate variants were verified by Sanger sequencing.Results:The patient was found to harbor compound heterozygous variants of the PATL2 gene, namely c. 223-14_223-2del and c. 1369G>T (p.G457*). Sanger sequencing has verified that they were respectively inherited from her father and mother. The patient was diagnosed with oocyte maturation defect type 4. Conclusion:Oocyte maturation arrest due to mutations of the PATL2 gene can result in primary female infertility. Discovery of the novel c. 1369G>T (p.G457*) variant has expanded the spectrum of pathogenic variants of the PATL2 gene.
4.Warburg effect on tumor
Yuhui ZHOU ; Jiufeng WEI ; Guodong LI ; Ming LIU
Journal of International Oncology 2017;44(10):762-766
Tumor cells can escape from the normal apoptosis process and enhance the ability of proliferation and migration via an abnormal glucose metabolism.This abnormal glucose metabolism is named the Warburg effect,which plays a key role in the incidence of tumor.The Warburg effect is that,under aerobic condition,attenuating aerobic respiration of tumor cells via a series of molecular mechanisms,and exhibiting higher glycolysis metabolism and adenosine triphosphate (ATP) production,and meanwhile,creating the micro-environment that suitable for tumor cell survival,inducing proliferation advantages for tumor cells.In addition,the Warburg effect-induced regional hypoxia reduces monitoring effect and lethality of T-lymphocytes,and thus induces immune escape of tumor cells.By inhibiting related pathways of Warburg effect,some drugs such as 2-deoxy-D-glucose and dichloroacetic acid have effective ability to inhibit Warburg effect-caused proliferation advantages and immune escape of tumor cells,and thus inhibit tumor cells growth and promote tumor cells death.Moreover,health diet also effectively inhibits the Warburg effect.However,there are also some problems to be solved.As the development of researches on the Warburg effect,the effect of various antitumor drugs will be revalued,and these will provide new theoretical basis and research direction for tumor prevention and therapy.
5.Non-invasive prenatal diagnosis for beta-thalassemia by detecting paternal CD41-42 mutation in cell-free DNA derived from maternal plasma with droplet digital PCR.
Yijia ZHANG ; Xiaoqian GONG ; Yi HE ; Lichan HUANG ; Qiang ZHANG ; Yanhui LIU ; Jiufeng LI ; Yajun CHEN ; Wanjun ZHOU
Chinese Journal of Medical Genetics 2018;35(6):787-790
OBJECTIVE:
To establish a non-invasive method for beta-thalassemia by detecting parental CD41-42 mutation in cell-free DNA derived from maternal plasma with droplet digital PCR (ddPCR).
METHODS:
Beta-actin gene and beta-thalassemia gene CD41-42 mutation were respectively set as the reference and target sequences. A novel method was established based on Bio-Rad ddPCR technique with specific primers and TaqMan probes for the two genes. The accuracy, sensitivity and detective linearity range of the developed method were evaluated by detection of the target gene gradient concentration samples. The applicability was also evaluated by testing 20 maternal plasma samples.
RESULTS:
The ddPCR method could accurately detect the beta-thalassemia CD41-42 mutation in cell-free DNA derived from maternal plasma. Within the target sequence concentration ratio of 5.00%-0.50%, the relative errors were all < 0.05, the linear regression equation was Y=1.0101-X-0.0071 and R=0.9994. The results of 20 maternal plasma cell-free DNA samples were all consistent with those of the follow-up testing.
CONCLUSION
A ddPCR method for detecting parental CD41-42 mutation in cell-free DNA from maternal plasma was developed. The method is simple, rapid, accurate, and can be applied for non-invasive prenatal diagnosis for couples simultaneously carrying the CD41-42 mutation.
Cell-Free Nucleic Acids
;
DNA
;
blood
;
Female
;
Humans
;
Mutation
;
Polymerase Chain Reaction
;
Pregnancy
;
Prenatal Diagnosis
;
methods
;
beta-Thalassemia
;
diagnosis
;
genetics
6.Characteristics of severe sports injuries related to alpine skiing during the 2022 Winter Olympics and Paralympics in Beijing
Lei SHI ; Yang LYU ; Fenglong ZHAO ; Jiufeng XU ; Yu MEI ; Hui FENG ; Haiyang LI ; Fang ZHOU
Chinese Journal of Orthopaedic Trauma 2023;25(12):1025-1030
Objective:To characterize the severe sports injuries related to alpine skiing during the 2022 Beijing Winter Olympics and Paralympics so as to provide information for the prevention and treatment of sports injuries in the Yanqing National Alpine Skiing Center tracks.Methods:The medical data were collected of all the alpine skiing athletes and related staff who had sought medical treatment in Peking University Third Hospital Yanqing Hospital during January 20, 2022 to March 26, 2022. Descriptive statistical analyses were conducted for body part, type, occurrence place, and severity of the injuries.Results:There were 49 patients who had suffered severe injuries related to alpine skiing events during this Olympic Games, with 68 injuries by body parts and 72 injuries by types. The most common injury part was the knee (25.0%, 17/68), followed by the head (14.7%, 10/68), and the shoulder (8.8%, 6/68). The most common types of injury were contusion (including hematoma and abrasion, 30.6%, 22/72), followed by sprain (including dislocation, subluxation, and ligament injury, 22.2%, 16/72), and fracture (20.8%, 15/72). The most common occurrence place in the tracks for athletes was the "Haituo Bowl" area (41.7%, 10/24). In terms of severity, the injuries led to an absence from training or competition in 48 athletes [98.0% (48/49)], of whom 33 were severely injured [67.3% (33/49)].Conclusions:The most vulnerable part for severe sports injuries in the alpine skiing events of the 2022 Beijing Winter Olympics and Paralympics was the knee, mostly with ligament injuries, which is consistent with the findings of previous events. The high proportion of severe injuries indicated the difficulty of this track. The place where injuries mostly occurred was the "Haituo Bowl" area of the racing track, also the most challenging part of this track, indicating a necessity of more medical resources in this area.