1.Research progress of FAPI PET/CT in the diagnosis of malignant liver tumors.
Xin Yue ZHANG ; Wei HAN ; Zhe Hao LYU ; Hong Yue ZHAO ; Peng FU ; Chang Jiu ZHAO
Chinese Journal of Hepatology 2023;31(6):664-667
Malignant liver tumors have a high incidence and mortality rate. Therefore, it is of great significance to promptly learn about tumor advancement status through relevant examinations for patients' follow-up, diagnosis, and therapy as well as the improvement of the five-year survival rate. The primary lesions and intrahepatic metastases of malignant liver tumors have been better demonstrated in the clinical study with the use of various isotope-labeled fibroblast activating protein inhibitors because of their low uptake in liver tissues and high tumor/background ratio, which provides a new method for early diagnosis, precise staging, and radionuclide therapy. In light of this context, a review of the research progress of fibroblast-activating protein inhibitors for the diagnosis of liver malignant tumors is presented.
Humans
;
Positron Emission Tomography Computed Tomography
;
Carcinoma, Hepatocellular
;
Liver Neoplasms
2.Efficacy and Safety of Jianpi Jieyu Decoction for Patients with Mild-to-Moderate Depression of Xin (Heart)-Pi (Spleen) Deficiency Syndrome: A Multi-centre Randomized Controlled Study.
Xu CHEN ; Jiu-Xi CHEN ; Xue-Yan HAN ; Yang ZHAO ; Jing CAO ; Xiu-Zhen JIAO ; Hong-Mei LIU ; Chun-Li GUO ; Shuo MENG ; Shuai LIANG ; Jiang-Xia QI ; Dong CHEN ; Ming-Xia LI ; Yun-Xia JIAO ; Ting-Ting WANG ; Xia HONG
Chinese journal of integrative medicine 2023;29(4):299-307
OBJECTIVE:
To evaluate the efficacy and safety of Jianpi Jieyu Decoction (JJD) for treating patients with mild-to-moderate depression of Xin (Heart)-Pi (Spleen) deficiency (XPD) syndrome.
METHODS:
In this multi-center, randomized, controlled study, 140 patients with mild-to-moderate depression of XPD syndrome were included from Xiyuan Hospital of China Academy of Chinese Medical Sciences and Botou Hospital of Traditional Chinese Medicine from December 2017 to December 2019. They were randomly divided into JJD group and paroxetine group by using a random number table, with 70 cases in each group. The patients in the JJD group were given JJD one dose per day (twice daily at morning and evening, 100 mL each time), and the patients in the paroxetine group were given paroxetine (10 mg/d in week 1; 20 mg/d in weeks 2-6), both orally administration for a total of 6 weeks. The primary outcome was the change of 17-item Hamilton Depression Rating Scale (HAMD-17) score at week 6 from baseline. The secondary outcomes included the Hamilton Anxiety Scale (HAMA) score, Traditional Chinese Medicine Symptom Scale (TCMSS), and Clinlcal Global Impression (CGI) scores at the 2nd, 4th, and 6th weekends of treatment, HAMD-17 response (defined as a reduction in score of >50%) and HAMD-17 remission (defined as a score of ⩽7) at the end of the 6th week of treatment. Adverse events (AEs) were also recorded.
RESULTS:
From baseline to week 6, the HAMD-17 scores decreased 10.2 ± 4.0 and 9.1 ± 4.9 points in the JJD and paroxetine groups, respectively (P=0.689). The HAMD-17 response occurred in 60% of patients in the JJD group and in 50% of those in the paroxetine group (P=0.292); HAMD-17 remission occurred in 45.7% and 30% of patients, respectively (P=0.128). The differences of CGI scores at the 6th week were not statistically significant (P>0.05). There were significant differences in HAMD-17 scores between the two groups at 2nd and 4th week (P=0.001 and P=0.014). The HAMA scores declined 8.1 ± 3.0 and 6.9 ± 4.3 points from baseline to week 6 in the JJD and paroxetine groups, respectively (P=0.905 between groups). At 4th week of treatment, there was a significant difference in HAMA between the two groups (P=0.037). TCMSS decreased 11.4 ± 5.1, and 10.1 ± 6.8 points in the JJD and paroxetine groups, respectively (P=0.080 between groups). At the 6th week, the incidence of AEs in the JJD group was significantly lower than that in the paroxetine group (7.14% vs. 22.86%, P<0.05).
CONCLUSION
Compared with paroxetine, JJD was associated with a significantly lower incidence of AEs in patients with mild-to-moderate depression of XPD syndrome, with no difference in efficacy at 6 weeks. (Trial registration No. ChiCTR2000040922).
Humans
;
Paroxetine/adverse effects*
;
Spleen
;
Anxiety
;
Syndrome
;
Medicine, Chinese Traditional
;
Treatment Outcome
;
Double-Blind Method
3.Delivery room resuscitation and short-term outcomes of extremely preterm and extremely low birth weight infants: a multicenter survey in North China.
Shuai-Jun LI ; Qi FENG ; Xiu-Ying TIAN ; Ying ZHOU ; Yong JI ; Yue-Mei LI ; Shu-Fen ZHAI ; Wei GUO ; Fang ZHANG ; Rong-Xiu ZHENG ; Hai-Ying HE ; Xia LIU ; Jun-Yi WANG ; Hua MEI ; Hong-Yun WANG ; Hua XIE ; Chao-Mei ZENG ; Li MA ; Ping-Ping ZHANG ; Jin-Yu LI ; Xiao-Ying WANG ; Li-Hua LI ; Hong CUI ; Shu-Lan YANG ; Lu CHEN ; Xiao-Hong GU ; Yan-Ju HU ; Sheng-Shun QUE ; Li-Xia SUN ; Ming YANG ; Wen-Li ZHAO ; Qiu-Yan MA ; Hai-Juan WANG ; Jiu-Ye GUO
Chinese Medical Journal 2021;134(13):1561-1568
BACKGROUND:
Delivery room resuscitation assists preterm infants, especially extremely preterm infants (EPI) and extremely low birth weight infants (ELBWI), in breathing support, while it potentially exerts a negative impact on the lungs and outcomes of preterm infants. This study aimed to assess delivery room resuscitation and discharge outcomes of EPI and ELBWI in China.
METHODS:
The clinical data of EPI (gestational age [GA] <28 weeks) and ELBWI (birth weight [BW] <1000 g), admitted within 72 h of birth in 33 neonatal intensive care units from five provinces and cities in North China between 2017 and 2018, were analyzed. The primary outcomes were delivery room resuscitation and risk factors for delivery room intubation (DRI). The secondary outcomes were survival rates, incidence of bronchopulmonary dysplasia (BPD), and risk factors for BPD.
RESULTS:
A cohort of 952 preterm infants were enrolled. The incidence of DRI, chest compressions, and administration of epinephrine was 55.9% (532/952), 12.5% (119/952), and 7.0% (67/952), respectively. Multivariate analysis revealed that the risk factors for DRI were GA <28 weeks (odds ratio [OR], 3.147; 95% confidence interval [CI], 2.082-4.755), BW <1000 g (OR, 2.240; 95% CI, 1.606-3.125), and antepartum infection (OR, 1.429; 95% CI, 1.044-1.956). The survival rate was 65.9% (627/952) and was dependent on GA. The rate of BPD was 29.3% (181/627). Multivariate analysis showed that the risk factors for BPD were male (OR, 1.603; 95% CI, 1.061-2.424), DRI (OR, 2.094; 95% CI, 1.328-3.303), respiratory distress syndrome exposed to ≥2 doses of pulmonary surfactants (PS; OR, 2.700; 95% CI, 1.679-4.343), and mechanical ventilation ≥7 days (OR, 4.358; 95% CI, 2.777-6.837). However, a larger BW (OR, 0.998; 95% CI, 0.996-0.999), antenatal steroid (OR, 0.577; 95% CI, 0.379-0.880), and PS use in the delivery room (OR, 0.273; 95% CI, 0.160-0.467) were preventive factors for BPD (all P < 0.05).
CONCLUSION
Improving delivery room resuscitation and management of respiratory complications are imperative during early management of the health of EPI and ELBWI.
Birth Weight
;
Bronchopulmonary Dysplasia
;
China/epidemiology*
;
Delivery Rooms
;
Female
;
Gestational Age
;
Humans
;
Infant
;
Infant, Extremely Low Birth Weight
;
Infant, Extremely Premature
;
Infant, Newborn
;
Male
;
Pregnancy
4.Adefovir Dipivoxil plus Chinese Medicine in HBeAg-Positive Chronic Hepatitis B Patients: A Randomized Controlled 48-Week Trial.
Xiao-Ke LI ; Ming-Xiang ZHANG ; Feng-Zhen SHAO ; Da-Qiao ZHOU ; Jing-Dong XUE ; Tie-Jun LIU ; Xiao-Ling CHI ; Bing-Jiu LU ; Xian-Bo WANG ; Qin LI ; Jun LI ; De-Wen MAO ; Hua-Sheng YANG ; Hong-Zhi YANG ; Wen-Xia ZHAO ; Yong LI ; Guo-Liang ZHANG ; Yi-Ming ZHAO ; Jian-Dong ZOU ; Meng-Yang LIU ; Ke-Ke ZHANG ; Xian-Zhao YANG ; Da-Nan GAN ; Ying LI ; Peng ZHANG ; Zhi-Guo LI ; Shuo LI ; Yong-An YE
Chinese journal of integrative medicine 2020;26(5):330-338
OBJECTIVE:
To evaluate the effects of a 48-week course of adefovir dipivoxil (ADV) plus Chinese medicine (CM) therapy, namely Tiaogan Jianpi Hexue () and Tiaogan Jiedu Huashi () fomulae, in hepatitis B e antigen (HBeAg)-positive Chinese patients.
METHODS:
A total of 605 HBeAg-positive Chinese CHB patients were screened and 590 eligible participants were randomly assigned to 2 groups in 1:1 ratio including experimental group (EG, received ADV plus CM) and control group (CG, received ADV plus CM-placebo) for 48 weeks. The major study outcomes were the rates of HBeAg and HBV-DNA loss on week 12, 24, 36, 48, respectively. Secondary endpoints including liver functions (enzymes and bilirubin readings) were evaluated every 4 weeks at the beginning of week 24, 36, and 48. Routine blood, urine, and stool analyses in addition to electrocardiogram and abdominal B scan were monitored as safety evaluations. Adverse events (AEs) were documented.
RESULTS:
The combination therapy demonstrated superior HBeAg loss at 48 weeks, without additional AEs. The full analysis population was 560 and 280 in each group. In the EG, population achieved HBeAg loss on week 12, 24, 36, and 48 were 25 (8.90%), 34 (12.14%), 52 (18.57%), and 83 (29.64%), respectively; the equivalent numbers in the CG were 20 (7.14%), 41 (14.64%), 54 (19.29%), and 50 (17.86%), respectively. There was a statistically significant difference between these group values on week 48 (P<0.01). No additional AEs were found in EG. Subgroup analysis suggested different outcomes among treatment patterns.
CONCLUSION
Combination of CM and ADV therapy demonstrated superior HBeAg clearance compared with ADV monotherapy. The finding indicates that this combination therapy may provide an improved therapeutic effect and safety profile (ChiCTR-TRC-11001263).
Adenine
;
analogs & derivatives
;
therapeutic use
;
Adult
;
Antiviral Agents
;
therapeutic use
;
Double-Blind Method
;
Drug Therapy, Combination
;
Drugs, Chinese Herbal
;
therapeutic use
;
Female
;
Hepatitis B e Antigens
;
immunology
;
Hepatitis B, Chronic
;
drug therapy
;
immunology
;
Humans
;
Male
;
Medicine, Chinese Traditional
;
Organophosphonates
;
therapeutic use
;
Young Adult
5.Identification of a novel coronavirus causing severe pneumonia in human: a descriptive study.
Li-Li REN ; Ye-Ming WANG ; Zhi-Qiang WU ; Zi-Chun XIANG ; Li GUO ; Teng XU ; Yong-Zhong JIANG ; Yan XIONG ; Yong-Jun LI ; Xing-Wang LI ; Hui LI ; Guo-Hui FAN ; Xiao-Ying GU ; Yan XIAO ; Hong GAO ; Jiu-Yang XU ; Fan YANG ; Xin-Ming WANG ; Chao WU ; Lan CHEN ; Yi-Wei LIU ; Bo LIU ; Jian YANG ; Xiao-Rui WANG ; Jie DONG ; Li LI ; Chao-Lin HUANG ; Jian-Ping ZHAO ; Yi HU ; Zhen-Shun CHENG ; Lin-Lin LIU ; Zhao-Hui QIAN ; Chuan QIN ; Qi JIN ; Bin CAO ; Jian-Wei WANG
Chinese Medical Journal 2020;133(9):1015-1024
BACKGROUND:
Human infections with zoonotic coronaviruses (CoVs), including severe acute respiratory syndrome (SARS)-CoV and Middle East respiratory syndrome (MERS)-CoV, have raised great public health concern globally. Here, we report a novel bat-origin CoV causing severe and fatal pneumonia in humans.
METHODS:
We collected clinical data and bronchoalveolar lavage (BAL) specimens from five patients with severe pneumonia from Wuhan Jinyintan Hospital, Hubei province, China. Nucleic acids of the BAL were extracted and subjected to next-generation sequencing. Virus isolation was carried out, and maximum-likelihood phylogenetic trees were constructed.
RESULTS:
Five patients hospitalized from December 18 to December 29, 2019 presented with fever, cough, and dyspnea accompanied by complications of acute respiratory distress syndrome. Chest radiography revealed diffuse opacities and consolidation. One of these patients died. Sequence results revealed the presence of a previously unknown β-CoV strain in all five patients, with 99.8% to 99.9% nucleotide identities among the isolates. These isolates showed 79.0% nucleotide identity with the sequence of SARS-CoV (GenBank NC_004718) and 51.8% identity with the sequence of MERS-CoV (GenBank NC_019843). The virus is phylogenetically closest to a bat SARS-like CoV (SL-ZC45, GenBank MG772933) with 87.6% to 87.7% nucleotide identity, but is in a separate clade. Moreover, these viruses have a single intact open reading frame gene 8, as a further indicator of bat-origin CoVs. However, the amino acid sequence of the tentative receptor-binding domain resembles that of SARS-CoV, indicating that these viruses might use the same receptor.
CONCLUSION
A novel bat-borne CoV was identified that is associated with severe and fatal respiratory disease in humans.
Adult
;
Aged
;
Betacoronavirus
;
genetics
;
isolation & purification
;
Coronavirus Infections
;
diagnostic imaging
;
therapy
;
virology
;
Female
;
Humans
;
Male
;
Middle Aged
;
Pandemics
;
Pneumonia, Viral
;
diagnostic imaging
;
therapy
;
virology
;
Tomography, X-Ray
;
Treatment Outcome
6. Identification of a novel coronavirus causing severe pneumonia in human: a descriptive study
Li Li REN ; Ye Ming WANG ; Zhi Qiang WU ; Zi Chun XIANG ; Li GUO ; Teng XU ; Yong Zhong JIANG ; Yan XIONG ; Yong Jun LI ; Hui LI ; Guo Hui FAN ; Xiao Ying GU ; Yan XIAO ; Hong GAO ; Jiu Yang XU ; Fan YANG ; Xin Ming WANG ; Chao WU ; Lan CHEN ; Yi Wei LIU ; Bo LIU ; Jian YANG ; Jie DONG ; Li LI ; Chao Lin HUANG ; Jian Ping ZHAO ; Yi HU ; Zhen Shun CHENG ; Lin Lin LIU ; Zhao Hui QIAN ; Chuan QIN ; Qi JIN ; Bin CAO ; Jian Wei WANG
Chinese Medical Journal 2020;133(0):E001-E001
Background: Human infections with zoonotic coronaviruses (CoVs), including severe acute respiratory syndrome (SARS)-CoV and Middle East respiratory syndrome (MERS)-CoV, have raised great public health concern globally. Here, we report a novel bat-origin CoV causing severe and fatal pneumonia in humans. Methods: We collected clinical data and bronchoalveolar lavage (BAL) specimens from five patients with severe pneumonia from Jin Yin-tan Hospital, Wuhan, Hubei province, China. Nucleic acids of the BAL were extracted and subjected to next-generation sequencing. Virus isolation was carried out, and maximum-likelihood phylogenetic trees were constructed. Results: Five patients hospitalized from December 18 to December 29, 2019 presented with fever, cough, and dyspnea accompanied by complications of acute respiratory distress syndrome. Chest radiography revealed diffuse opacities and consolidation. One of these patients died. Sequence results revealed the presence of a previously unknown β-CoV strain in all five patients, with 99.8–99.9% nucleotide identities among the isolates. These isolates showed 79.0% nucleotide identity with the sequence of SARS-CoV (GenBank NC_004718) and 51.8% identity with the sequence of MERS-CoV (GenBank NC_019843). The virus is phylogenetically closest to a bat SARS-like CoV (SL-ZC45, GenBank MG772933) with 87.6–87.7% nucleotide identity, but is in a separate clade. Moreover, these viruses have a single intact open reading frame gene 8, as a further indicator of bat-origin CoVs. However, the amino acid sequence of the tentative receptor-binding domain resembles that of SARS-CoV, indicating that these viruses might use the same receptor. Conclusion: A novel bat-borne CoV was identified that is associated with severe and fatal respiratory disease in humans.
7.Geological distribution of exudation and storage area of Tibetan medicine Zha-xun in Sichuan province based on GIS.
Jiu-Yu FAN ; Rong DING ; Ming-Ming ZHAO ; Meng WANG ; Rui GU ; Shi-Hong ZHONG
China Journal of Chinese Materia Medica 2020;45(15):3631-3641
Zha-xun is widely used in Tibetan medicine and is also an international traditional medicine. This study believes that the black organic matter constituting Zha-xun is mainly stored in the rocks. The exudation points of Zha-xun mostly distribute on the cliffs of high mountains, which makes it difficult to evaluate its resource distribution and storage area. This paper was aimed at the exudation environment of Tibetan medicine Zha-xun in Sichuan province and 6 ecological environmental factors of the Zha-xun were determined via the field investigation. Combining with these 6 factors as well as the GIS data of Sichuan province, ArcGIS software was used to extract ideal environmental factors which are suitable for exudation of Zha-xun, including geology types, geomorphological types, altitude, slope, vegetation types, and mean annual temperature. The spatial overlay analyses on the extracted environmental factors were carried out to predict the distribution area of Zha-xun in Sichuan province. Afterwards, field investigation was conducted to verify the prediction. The prediction showed that the exudation spots of Zha-xun in Sichuan province mainly located in 29 counties including 12 in Aba Prefecture, 15 in Ganzi Prefecture, and Muli County and Dechang County in Liangshan Prefecture. The deposit areas of Zha-xun were located in the Triassic, Devonian and Silurian strata and were basically distributed in 9 basins, including Dingqu River, Yalong River, Xianshui River, Dadu River, Suomo River, Minjiang River and Baishui River, characterized by a fragmented patch-like distribution along the mountain ranges, and the exudation spots of Zha-xun were mainly scattered among the rain-free cliffs' concavities of river valleys at a certain altitude. The prediction was consistent with the field investigation results, which suggested that it is possible and feasible to predict distribution of Zha-xun resources based on GIS-analysis. The study may provide a scientific basis for comprehensive investigations into Zha-xun's distribution and formation mechanism, thus promoting rational development and utilization of Zha-xun resources.
China
;
Geographic Information Systems
;
Geology
;
Medicine, Tibetan Traditional
;
Medicine, Traditional
;
Temperature
8.Framework construction and standardization practice of standard system for Sichuan Dao-di herbs.
Shun-Yuan JIANG ; Jun-Ning ZHAO ; Hong-Lan WANG ; Qing-Miao LI ; Hua HUA ; Jiu-Zhen DU ; Li HE ; Tao XU ; Ling MO
China Journal of Chinese Materia Medica 2020;45(4):715-719
Dao-di herbs is one of the characteristics of traditional Chinese medicine different from other ethnic medicine. Sichuan province is rich in varieties and resources of Dao-di herbs, and its development scale and benefits are not obvious in recent decades due to the lag of standards behind the development of the times and objective needs. From the point of view of the whole process and the whole industrial chain, the significance of standardization system for quality assurance, healthy development of the industry, and development of the industry of Sichuan Dao-di herbs are presented in this paper. At present, Sichuan has made every effort to promote the construction and practice of the standardization system for Sichuan Dao-di herbs, to promote the rapid and high-quality development of Dao-di herbs industry in Sichuan.
China
;
Drugs, Chinese Herbal/standards*
;
Medicine, Chinese Traditional
;
Plants, Medicinal/chemistry*
9.Alcohol consumption analysis among patients with liver disease in China.
Yan-Di XIE ; Chang-Qing ZHAO ; Jiu-Ping WANG ; Chang-Sheng CHENG ; Jun-Ying ZHOU ; Ying ZHANG ; Hong XIA ; Lai WEI
Chinese Medical Journal 2019;132(4):420-430
BACKGROUND:
Alcohol consumption has been observed to be a contributing factor in liver damage. However, very few studies have tried to decipher the correlation between patients with liver disease and alcohol consumption. Therefore, this study was planned to determine the prevalence of alcohol consumption among patients with liver disease, and to evaluate the risk factors, liver diseases, and chronic medical conditions associated with alcohol drinking.
METHODS:
A cross-sectional study was conducted among patients with liver disease in 30 provinces, autonomous regions, and municipalities across China. All participants answered the questionnaire, which led to the calculation of Alcohol Use Disorders Inventory Test (AUDIT) score for each patient. Based on this score, low-risk drinkers, hazardous drinkers, and harmful drinkers were defined as having AUDIT score of <8, between 8 and 15, and ≥16, respectively.
RESULTS:
A total of 1489 participants completed the questionnaire. Based on this information, 900 (60.44%) participants were classified as alcohol drinkers. Among these, 8.66% were ex-drinkers, 22.10% were low-risk drinkers, 17.13% were hazardous drinkers, and 12.56% were harmful drinkers. Further investigation of the association between alcohol consumption and other baseline characteristics of patients with liver disease revealed that usually men <40 years old, participants having higher family annual income, having college degree or higher education, living alone, having higher body mass index (BMI), current smokers, and ex-smokers had significant association with higher risk of alcohol consumption. In addition, among the 18.07% of the participants with cirrhosis, it was observed that risk of cirrhosis increased with higher alcohol consumption. Furthermore, harmful drinkers showed greater odds of hypertension and heart diseases, while hazardous drinkers and harmful drinkers, both had greater odds of hyperlipidemia.
CONCLUSIONS
Overall our analyses indicated that among the patients with liver disease in China, there was high rate of alcohol consumption and dependence. Alcohol consumption usually associated with men <40 years old, higher family income, education level, living alone, high BMI, and smoking. Increased alcohol consumption not only increased the risk of cirrhosis, but also enhanced the risk of hypertension, heart diseases, and hyperlipidemia.
Adult
;
Aged
;
Alcohol Drinking
;
adverse effects
;
Alcoholism
;
etiology
;
Cross-Sectional Studies
;
Female
;
Humans
;
Liver Diseases
;
etiology
;
Male
;
Middle Aged
;
Smoking
;
adverse effects
10.Analysis of single-nucleotide polymorphism of Sonic hedgehog signaling pathway in non-syndromic cleft lip and/or palate in the Chinese population.
Jie Ni ZHANG ; Feng Qi SONG ; Shao Nan ZHOU ; Hui ZHENG ; Li Ying PENG ; Qian ZHANG ; Wang Hong ZHAO ; Tao Wen ZHANG ; Wei Ran LI ; Zhi Bo ZHOU ; Jiu Xiang LIN ; Feng CHEN
Journal of Peking University(Health Sciences) 2019;51(3):556-563
OBJECTIVE:
To study the relationship between Sonic hedgehog (Shh) associated single-nucleotide polymorphism (SNP) and non-syndromic cleft lip and/or palate (NSCL/P), and to explore the risk factors of cleft lip and/or palate. Many studies suggest that the pathogenesis of NSCL/P could be related to genes that control early development, in which the Shh signaling pathway plays an important role.
METHODS:
Peripheral blood was collected from 197 individuals (100 patients with NSCL/P and 97 healthy controls). Haploview software was used for haplotype analysis and Tag SNP were selected, based on the population data of Han Chinese in Beijing of the international human genome haplotype mapping project. A total of 27 SNP were selected for the 4 candidate genes of SHH, PTCH1, SMO and GLI2 in the Shh signaling pathway. The genotypes of 27 SNP were detected and analyzed by Sequenom mass spectrometry. The data were analyzed by chi-squared test and an unconditional Logistic regression model.
RESULTS:
The selected SNP basically covered the potential functional SNP of the target genes, and its minimum allele frequency (MAF) was >0.05: GLI2 73.5%, PTCH1 91.0%, SMO 100.0%, and SHH 75.0%. It was found that the genotype frequency of SNP (rs12674259) located in SMO gene and SNP (rs2066836) located in PTCH1 gene were significantly different between the NSCL/P group and the control group. Linkage disequilibrium was also found on 3 chromosomes (chromosomes 2, 7 and 9) where the 4 candidate genes were located. However, in the analysis of linkage imbalance haplotype, there was no significant difference between the disease group and the control group.
CONCLUSION
In China, NSCL/P is the most common congenital disease in orofacial region. However, as it is a multigenic disease and could be affected by multiple factors, such as the external environment, the etiology of NSCL/P has not been clearly defined. This study indicates that Shh signaling pathway is involved in the occurrence of NSCL/P, and some special SNP of key genes in this pathway are related to cleft lip and/or palate, which provides a new direction for the etiology research of NSCL/P and may provide help for the early screening and risk prediction of NSCL/P.
Beijing
;
Case-Control Studies
;
Cleft Lip
;
Cleft Palate
;
Genotype
;
Hedgehog Proteins
;
Humans
;
Nucleotides
;
Polymorphism, Single Nucleotide
;
Signal Transduction

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