1.Clinical characteristics and genetic analysis of Feingold syndrome due to chromosome 2p24.3p24.2 microdeletion
Yanping LIU ; Tianhua TANG ; Liu YANG ; Tingting LI ; Ruiming CAO ; Chunming REN ; Yan LI
Chinese Journal of Neurology 2024;57(1):54-60
Objective:To explore the genetic etiology and clinical phenotype of Feingold syndrome due to chromosome 2p24.3p24.2 microdeletion.Methods:The clinical data of a child admitted to Henan Provincial People′s Hospital in November 2021 and diagnosed as Feingold syndrome type 1 (FGLDS1) associated with chromosome 2p24.3p24.2 microdeletion were collected. The clinical and genetic variation characteristics of the patient were summarized, and 10 patients with chromosome 2p microdeletion reported until November 2022 were reviewed.Results:The boy was 12 years and 5 months old. He presented with backward physical development, motor development retardation, low intelligence, special body and facial appearance, finger developmental deformity and other manifestations, accompanied by hyperactivity and aggressive behavior, impulsive irritability, self-injury and other behavior problems. The proband showed normal chromosome karyotype; the genome-wide copy number variant sequencing and trio-whole exome sequencing revealed a 2.61 Mb deletion at chromosome 2p24.3p24.2 region, and 10 genes including MYCN gene (exons 1 to 3) in the deleted region.The same deletion was not found in either of his parents. The genetic features of 11 cases (including this case) with chromosome 2p microdeletion were summarized, all of whom had insufficient haploid dosage of the MYCN gene due to chromosome 2p microdeletion, and the clinical manifestations of these 11 patients matched the clinical diagnosis of FGLDS1. Conclusion:The proband is consistent with the clinical presentation of the typical Feingold syndrome, and the haploinsufficiency of the MYCN gene due to the microdeletion of chromosome 2 is the genetic etiology of the proband.
2.Discussion on syndrome differentiation and treatment of gastroparesis based on the theory of"atrophy,dyspnea and vomiting are ascribed to the upper part"based on the lung
Tianhua ZHANG ; Xing WEI ; Zenghui YUE ; Yan PENG
Journal of Beijing University of Traditional Chinese Medicine 2024;47(4):485-489
Gastroparesis is a gastric disease characterized by delayed gastric emptying."Vomiting"is the main clinical manifestation of this disease,while"atrophy"indicates dysfunction of the stomach.Based on the theory of"atrophy,dyspnea and vomiting are ascribed to the upper part",originating from the Chapter of"Zhi Zhen Yao Da Lun"from the Suwen(Basic Questions)section this paper explored the pathogenesis and treatment idea of gastroparesis from the function of the lung.It is put forward that failure of lung qi in dispersion,so the lung qi cannot maintain the circulation of harmonizing qi and blood,leading to malnutrition of stomach and loss of stomach receiving food and drink function.Melancholy impairing lung,so lung cannot govern diffusion,leading to stomach governing the disfunction of dredging and descending.Impaired depurative descending of lung qi,so the large intestine and stomach are lost in the alternating operation of deficiency and excess,leading to stomach governing the disfunction of transportation and transformation.Therefore,the treatment approach is proposed to improve the stomach's function to receive food and drink,transport and transform and promote the recovery of gastric motility by replenishing and restoring lung qi,regulating emotions and catharsis and smoothing lung.Analyzing the effect of function of the lung on gastric motility is of great value for expanding the application of traditional Chinese medicine in gastrointestinal motility disorders,and digging new connotations of classic theories in modern clinical practice.
3.Acupoint selection law of acupuncture and moxibustion in treating diabetic gastroparesis based on data mining
Hao HUANG ; Xing WEI ; Le XIAO ; Tianhua ZHANG ; Xiaoyu LI ; Yan PENG
International Journal of Traditional Chinese Medicine 2024;46(10):1356-1362
Objective:To explore the acupoint selection law of acupuncture and moxibustion in treating diabetic gastroparesis (DGP) using data mining technology.Methods:The clinical literature on acupuncture and moxibustion treatment for DGP was retrieved from CNKI, Wanfang Data, VIP, SinoMed, PubMed, the Cochrane Library from the establishment of the databases to July 31, 2023. The acupoint prescriptions were extracted to Excel 2016 to establish a database, and the statistics of acupoint frequency, meridian, distribution site and specific acupoint use were collected. SPSS Modeler 18.0 was used to analyze the association rules among acupoints, and SPSS Statistics 25.0 was used for clustering analysis and factor analysis to summarize the acupoint selection law for acupuncture treatment of DGP.Results:Totally 153 articles were included, involving 59 acupoints, with a total frequency of 802 times. The 5 most frequently used acupoints were "Zusanli" (ST 36), "Zhongwan" (CV 12), "Neiguan" (PC 6), "Sanyinjiao" (SP 6), "Pishu" (BL 20). The commonly used meridians were stomach meridian, Conception Vessel and bladder meridian. The involved acupoints were mostly located in the chest-abdomen and lower limbs, and most of them were Wushu acupoints, Mu acupoints, and Xiahe acupoints. The core acupoints group was "Zusanli (ST 36)-Zhongwan (CV 12)-Neiguan (PC 6)-Pishu (BL 20)-Weishu (BL 21)-Sanyinjiao (SP 6)-Tianshu (ST 25)", 24 groups of association rules, 5 effective clusters and 6 factors were obtained.Conclusion:Acupuncture and moxibustion treatment of DGP focuses on both spleen and stomach, treating both symptoms and root causes, and uses methods of combining acupoints such as distant and near matching, combining Mu acupoints, and Xiahe acupoints, and combining of Wushu acupoints and Mu acupoints, to achieve the therapeutic effect of nourishing yin and tonifying qi, dispelling upper abdominal fullness and resolving turbidity, and harmonizing stomach and strengthening spleen.
4.Research Progress on Ferroptosis-mediated Antitumor Immunotherapy
Guiqin HUANG ; Yu FU ; Mingxing MIAO ; Tianhua YAN
Cancer Research on Prevention and Treatment 2023;50(7):700-704
Ferroptosis is a form of programmed cell death driven by iron-dependent lipid peroxidation and is closely associated with a wide range of biological processes, such as aging, immunity, and cancer. Tumor multidrug resistance, especially resistance to apoptosis, has prompted the urgent search for a new antitumor treatment option. Remarkable progress has been made in the study of the role of ferroptosis in antitumor, especially the interaction with immune cells. Studying immunotherapy based on ferroptosis pathways has become a new direction in antitumor research. In this work, we review the role of ferroptosis in immune cells and antitumor immunotherapy to provide new ideas for ferroptosis-mediated antitumor immunotherapy.
5.Research progress of inflammation reaction related to endoplasmic reticulum stress in ischemic endoplasmic reticulum stress
Zhiying HUANG ; Xiaoxu ZHANG ; Wenli SUN ; Chang CHEN ; Defeng LI ; Jing FANG ; Meihong FU ; Qingshan LIU ; Tianhua YAN ; Shaojing LI
Chinese Pharmacological Bulletin 2015;(1):23-25,26
Endoplasmic reticulum plays a key role in both basic structure formation and function performance of microenviron-ment. Endoplasmic reticulum homeostasis unbalance caused by endoplasmic reticulum stress has become a hot research topic in recent years. This paper focuses on the role of endoplasmic retic-ulum stress in ischemic stroke. Research progress of related sig-naling pathways were reviewed, especially mechanisms through which endoplasmic reticulum stress trigger the inflammatory reac-tion, so as to provide a new research method for prevention of is-chemic stroke.
6.Research progress on chemical constituents and pharmacological activities of Rosa chinensis
Mouzhi LIU ; Xia SONG ; Yuanying JIANG ; Yongbing CAO ; Tianhua YAN
Journal of Pharmaceutical Practice 2015;(3):198-200,249
The chemical constituents of Rosa chinensis Jacq were diverse ,mainly including flavonoids ,flavonoid glyco-sides ,phenolic acids ,aromatic oils ,tannins and pigments .Its extract and some chemical constituents had shown multiple phar-macological activities ,such as antitumor ,antifungal ,anti-viral ,anti-oxidation etc ..The advances in the study on chemical com-ponents and pharmacological actions of Rosa chinensis Jacq were reviewed and its application prospect was prospected .
7.Advances in TOR pathway in Candida albicans
Huajun LIANG ; Lan YAN ; Yongbing CAO ; Yuanying JIANG ; Tianhua YAN
Journal of Pharmaceutical Practice 2014;(4):246-249,287
The target of rapamycin ( TOR) , a Ser/Thr protein kinase of PIKKs ( phosphatidylinositol kinase-related kinases ) , is the central factor of a highly conserved signaling pathway in eukaryotes , and regulates cell growth in response to nutrients , hor-mones, and stresses.It controls temporal growth by activating anabolic processes such as translation , ribosome biogenesis , protein syn-thesis, transportation of amino acid and metabolic enzymes .The advances in TOR pathway in the most pervasive human fungal patho-gen Candida albicans.
8.Effects and mechanism of TG6 on myocardial ischemia and reperfusion injury
Jingjing CHENG ; Mouzhi LIU ; Hongjiao LI ; Lan YAN ; Yuanying JIANG ; Tianhua YAN
Journal of Pharmaceutical Practice 2014;(6):440-443
Objective To investigate the protective effects and mechanism of TG 6 on myocardial ischemia/reperfusion injury . Methods the protective effects of TG 6 on myocardial ischemia/reperfusion was investigated by setting up models of ischemia and reperfusion of rats induced by ligating the left coronary anterior descending artery in vivo,isolated rat hearts through an improved Lange-ndorff device, and hypoxia /reoxygenation injury of neonatal rat cardiomyocytes , and the serum CK,LDH,T-SOD, MDA were taken as research markers .Results TG6 significantly reduced the myocardial infarct size , decreased the activity of CK and the content of MDA in serum, reduced the activity of LDH, and increased the activity of T-SOD in vivo;TG6 obviously increased the coronary blood flow after low rate perfusion and reperfusion , decreased the content of MDA and the leakage of CK , LDH in myocardial tissue , elevated the activity of T-SOD in vitro of isolated rat hearts;TG6 had no effects on cells in normal growth condition , raised the viability of cardio-myocytes significantly, and reduced the rate of CK leakage and the content of [Ca2+]i obviously in Na2S2O4 treated cells in vitro of neonatal rat cardiomyocytes .Conclusion TG6 could effectively protect myocardial ischemia/reperfusion injury .
9.Effect of salidroside on brain edema and neurological function in global ischemia-reperfusion injuly in rats
Li ZHANG ; Tianhua YAN ; Ming YE ; Ning LIU ; Yisheng MAO
International Journal of Cerebrovascular Diseases 2011;19(12):896-900
Objective To investigate the effect of salidroside on brain edema and neurological function in global cerebral ischemia-reperfusion injury in rats.Methods A total of 100 Sprague Dawley rats were randomly divided into sham operation,ischemia-reperfusion and salidroside 12,24 and 48 mg/kg groups (n =20 in each group),and than redivided into 6 h,24 h,72 h and 7 dsubgroups (n =5 in each subgroup).A rat model of global cerebral ischemia was established using the four-vessel occlusion method.Immediately after modeling,all groups were administered intragastrically for 7 days.The brain water content was quantitated by the wet-dry weight method.The neurological evaluation was performed using a neurological deficit score (NDS).Results After modeling both the ischemia-reperfusion group and all the salidroside groups had significant neurological deficit,and as time went by,it was improved gradually.Compared to the ischemia-reperfusion group at the corresponding time points,neurological deficit in all the salidroside groups was improved significantly (all P < 0.05),and showing a dose-dependent trend.Compared to the salidroside 12 mg/kg and 24 mg/kg groups,neurological deficit in the salidroside 48 mg/kg group was improved significantly at 72 hours and 7 days (all P < 0.05).The brain water contents began to increase at 6 hours after modeling in the the ischemia-reperfusion group and all the salidroside group.They reached the peak at 72 hours,and significantly higher than that in the sham operation group (all P < 0.05).The brain water contents in all the salidroside group were significantly lower than those in the ischemiareperfusion group at 24 and 72 hours after modeling (all P < 0.05) and showing a dosedependent trend.The brain water content in the salidroside 48 mg/kg group was close to that in the sham operation group at 7 days after modeling.Conclusions Salidroside may significantlydecrease brain edema and improve neurological function in global cerebral ischemia-reperfusion injury in rats,and it has a neuroprotective effect.
10.Efficacy of ablative fractionated Er:YAG laser in facial acne scars and enlarged pores
Yan WU ; Yuanhong LI ; Xia ZHU ; Lili JIA ; Tianhua XU ; Li ZHANG ; Honghui XU ; Hongduo CHEN
Chinese Journal of Dermatology 2010;43(2):105-107
Objective To investigate the efficacy of ablative fractionated erbium: yttrium aluminum garnet (Er: YAG) laser in facial acne scars and enlarged pores. Methods Forty-one patients with mild to moderate pitted acne scars and 23 patients with enlarged pores were treated with 81 (9 × 9) bits of facula for 3 to 5 sessions at an interval of 1 month. For acne scars, the pulse duration was medium to long, energy at 800 to 1200 mJ, and number of stacking passes 4 to 8; for enlarged pores, the pulse duration was medium, energy at 800 to 1000 mJ and number of stacking passes 2 to 4. The clinical improvement was evaluated by 2 blinded dermatologists. Meanwhile, the satisfaction rate was self-assessed by patients. Three-dimensional (3D) micro-topography imaging system was used to evaluate the improvement in surface roughness. Results The efficacy reached 82.93% and 86.96% for ache scars and enlarged pores, respectively. The satisfaction rate was 88.80% and 91.30% in patients with ache scars and those with enlarged pores, respectively. After treatment, the Ra and Rz values, as the indicators of roughness, decreased by 18.74% and 21.01%, individually (P < 0.001) in 11 patients including 6 with acne scars and 5 with enlarged pores. Conclusion Ablative fractionated Er:YAG laser can efficiently resurface pitted ache scars and shrink enlarged pores.

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