OBJECTIVE: To explore the clinical and genetic characteristics of a child with Pallister-Hall syndrome (PHS). METHODS: DNA was extracted from peripheral blood sample from the child and subjected to whole exome sequencing. Suspected variants were verified by Sanger sequencing of his family members. RESULTS: Genetic testing revealed that the child has harbored a heterozygous c.3320_3330delGGTACGAGCAG (p.G1107Afs×18) variant of the GLI3 gene. Neither parent was found to carry the same variant. CONCLUSION The c.3320_3330delGGTACGAGCAG (p.G1107Afs×18) frameshift variant of the GLI3 gene probably underlay the pathogenesis of PHS in this child. Genetic testing should be considered for patients featuring hypothalamic hamartoma and central polydactyly.
Humans ; Child ; Pallister-Hall Syndrome/genetics* ; Kruppel-Like Transcription Factors/genetics* ; Zinc Finger Protein Gli3/genetics* ; Polydactyly/genetics* ; Hamartoma/pathology* ; Nerve Tissue Proteins/genetics*

Objective:To study the real-world outcome of China FDA-approved Sofosbuvir (SOF)/Velpatasvir (VEL) in Northwest China.Methods:In this multicenter, prospective, real-world cohort study, we recruited patients from 10 sites from Northwest China, who were chronically infected with HCV GTs 1-6 from 06/2018 to 09/2019. Patients received SOF (400mg)/VEL (100mg) for 12 weeks, and with ribavirin 900-1200 mg for GT3 cirrhosis and for any genotype decompensated cirrhosis. The primary endpoint was sustained virological response at 12-weeks post-treatment (SVR12) and safety. The secondary endpoint was the change of liver function after the achievement of SVR12.Results:Totally, 143 patients were enrolled in the study, four patients were lost to follow-up and one died during the follow-up, 138 patients were included in per-protocol analysis. Of the 138 patients, the mean age 53 years, 53.6% male, 94.2% Han nationality, 53.6% liver cirrhosis, 10.1% HBsAg +, 6.5% renal dysfunction, 5.1% treatment-experienced, and 16.7% patients received ribavirin treatment. The genotype distribution was as follows: 35.5% GT1, 42.8% GT2, 15.9% GT3, and 5.8% un-typed. The SVR12 rate was 96.5% (138/143, 95% CI: 93.5%-99.6%) for intention-to-treat analysis, and in per-protocol analysis, all 138 patients obtained SVR12 (100%). Compared with baseline, the serum total bilirubin, ALT and AFP levels decreased (all P < 0.05), as well as increased ALB and platelet count (all P < 0.001) at post-treatment 12-weeks. Overall adverse events (AEs) rate is 29.0%, and the most common AEs were anemia (14.5%) and fatigue (8.0%). Severe side effects (edema and fatigue) occurred in 2 patients, one of whom needed a short-term interruption of treatment due to fatigue. Conclusion:In this real-world cohort study, 12-week SOF/VEL regimen with or without ribavirin achieved high SVR12 rates (96.5%-100% overall) with excellent safety profile among patients with HCV GT1/2/3 infection including patients with GT3 and cirrhosis, and led to improvement of liver function.

Objective:To explore the association of dietary pattern and type 2 diabetes mellitus (T2DM) risk.Methods:In 2013, 3 747 participants from 87 coalmine branches of a large coal mine group in Datong City, Shanxi Province were selected by using a two-stage cluster stratified sampling method. Data on demographic characteristics, smoking, drinking, and family history of diabetes were collected by using a self-made questionnaire, and the International Physical Activity Questionnaire was used to assess the level of physical activity. Physical, glucose and lipid metabolism indicators were measured and subjects were divided into high-risk groups and low-risk groups of T2DM according to the T2DM risk score. Dietary data were collected by using Semi-quantitative Food Frequency Questionnaire, and dietary patterns were derived by using the exploratory factor analysis and cluster analysis. The unconditional logistic regression model was used to assess the association of dietary patterns and T2DM risk.Results:The age of the subjects was(41.48±8.62) years old, and 2 843 of them were males (84.31%). A total of 1 819 subjects were in the high-risk group and 1 553 in the low-risk group. Four dietary patterns, healthy diet, high-salt diet, meats diet, and carbohydrate-rich diet, were identified in this study. The unconditional logistic regression analysis showed that compared with the healthy diet pattern, after the adjustment of demographic characteristics, smoking, and drinking, the OR (95% CI) of T2DM risk in high-salt diet, carbohydrate-rich diet and meats diet patterns was 1.54 (1.26-1.88), 1.80 (1.43-2.28) and 1.20 (0.99-1.46), respectively. Conclusion:High-salt diet and carbohydrate-rich diet were positively associated with T2DM risk, whereas there was no association of meats diet and T2DM risk.

Objective:To evaluate properties of monoclonal anti-rabies virus antibodies obtained from phage library.Methods:A positive clone was obtained from the phage library of anti-rabies virus, and the variable region of light and heavy chain of the antibody was amplified by PCR. The transient expression plasmid of the fully human antibody was constructed and then transiently expressed in HEK293 EBNA1 cells. The purified antibody was analyzed by in vitro anti-rabies virus neutralization activity, neutralization index, escape virus glycoprotein sequencing and thermal stability by differential scanning fluorimetry. Glycoprotein sequences of escape virus were compared with lyssavirus glycoprotein sequence in the database.Results:In vitro neutralizing activity of the antibody was 691 IU/mg; the neutralization index of the antibody was 8.52 with CVS-11 and 7.05 with CTN. Sequence analysis of the escape mutant virus glycoprotein showed that the key amino acids of the antibody were N37 K, N194 K and K205 N. The amino acid sequence of mutated virus glycoprotein was compared with that of 1 338 lyssavirus glycoprotein. The result showed that only one strain of lyssavirus had the same amino acid type at position 194 as that of mutated escape strain. Tm (melting temperature) of the antibody was 70.58±0.31 ℃.Conclusions:A recombinant human neutralizing antibody with high neutralization index was obtained, which has high thermal stability.

Objective:To explore the association of dietary pattern and type 2 diabetes mellitus (T2DM) risk.Methods:In 2013, 3 747 participants from 87 coalmine branches of a large coal mine group in Datong City, Shanxi Province were selected by using a two-stage cluster stratified sampling method. Data on demographic characteristics, smoking, drinking, and family history of diabetes were collected by using a self-made questionnaire, and the International Physical Activity Questionnaire was used to assess the level of physical activity. Physical, glucose and lipid metabolism indicators were measured and subjects were divided into high-risk groups and low-risk groups of T2DM according to the T2DM risk score. Dietary data were collected by using Semi-quantitative Food Frequency Questionnaire, and dietary patterns were derived by using the exploratory factor analysis and cluster analysis. The unconditional logistic regression model was used to assess the association of dietary patterns and T2DM risk.Results:The age of the subjects was(41.48±8.62) years old, and 2 843 of them were males (84.31%). A total of 1 819 subjects were in the high-risk group and 1 553 in the low-risk group. Four dietary patterns, healthy diet, high-salt diet, meats diet, and carbohydrate-rich diet, were identified in this study. The unconditional logistic regression analysis showed that compared with the healthy diet pattern, after the adjustment of demographic characteristics, smoking, and drinking, the OR (95% CI) of T2DM risk in high-salt diet, carbohydrate-rich diet and meats diet patterns was 1.54 (1.26-1.88), 1.80 (1.43-2.28) and 1.20 (0.99-1.46), respectively. Conclusion:High-salt diet and carbohydrate-rich diet were positively associated with T2DM risk, whereas there was no association of meats diet and T2DM risk.

Allergic rhinitis (AR) is a global health problem that causes major illnesses and disabilities worldwide. Epidemiologic studies have demonstrated that the prevalence of AR has increased progressively over the last few decades in more developed countries and currently affects up to 40% of the population worldwide. Likewise, a rising trend of AR has also been observed over the last 2–3 decades in developing countries including China, with the prevalence of AR varying widely in these countries. A survey of self-reported AR over a 6-year period in the general Chinese adult population reported that the standardized prevalence of adult AR increased from 11.1% in 2005 to 17.6% in 2011. An increasing number of original articles and imporclinical trials on the epidemiology, pathophysiologic mechanisms, diagnosis, management and comorbidities of AR in Chinese subjects have been published in international peer-reviewed journals over the past 2 decades, and substantially added to our understanding of this disease as a global problem. Although guidelines for the diagnosis and treatment of AR in Chinese subjects have also been published, they have not been translated into English and therefore not generally accessible for reference to non-Chinese speaking international medical communities. Moreover, methods for the diagnosis and treatment of AR in China have not been standardized entirely and some patients are still treated according to regional preferences. Thus, the present guidelines have been developed by the Chinese Society of Allergy to be accessible to both national and international medical communities involved in the management of AR patients. These guidelines have been prepared in line with existing international guidelines to provide evidence-based recommendations for the diagnosis and management of AR in China.
Adult ; Asian Continental Ancestry Group* ; China ; Comorbidity ; Developed Countries ; Developing Countries ; Diagnosis* ; Epidemiologic Studies ; Epidemiology ; Global Health ; Humans ; Hypersensitivity* ; Prevalence ; Rhinitis, Allergic*

Objective To investigate the effects of mitochondrial DNA (mtDNA) copy number in peripheral blood and related factors on the risk of hypertension in coal miners.Methods A case-control study was conducted in 378 coal miners with hypertension and 325 healthy coal miners recruited from Datong Coal Mine Group.A standard questionnaire was used to collect their general information,such as demographic characteristics,habits and occupational history.Fluorescence quantitative PCR was performed to detect the copy number of mtDNA.Logistic regression model was applied for identifying the related risk factors of hypertension and analyzing the interaction between mtDNA copy number and risk factors.Results The prevalence of hypertension of high mtDNA copy number was lower than mtDNA copy numberin 0-5.67 group,but the difference was not statistically significant (P=0.414).Alcohol drinking (OR=1.80,95％CI:1.26-2.56),family history of hypertension (OR=1.74,95％ CI:1.20-2.50),work shifts (OR=0.69,95％ CI:0.48-0.99),education level (P=0.012) and family monthly income level (P=0.001) were related to the prevalence of hypertension.There were potential interactions between mtDNA copy number and alcohol drinking,family monthly income level,family history of hypertension,respectively.Alcohol drinking was a risk factor for hypertension [1.77(1.25-2.50)].Potential interactions between mtDNA copy number and alcohol drinking reduced the risk of hypertension (OR=1.20,95％CI:1.07-1.35).Family history of hypertension was a risk factor for hypertension [1.81(1.26-2.59)].Potential interactions between mtDNA copy number and family history of hypertension reduced the risk of hypertension (OR=1.24,95％ CI:1.09-1.41).Family monthly income level was a protect factor for hypertension [0.55(0.46-0.66)].Potential interactions between mtDNA copy number and family monthly income level increased the protection role of hypertension (OR=0.90,95％CI:0.86-0.94).Conclusion mtDNA copy number variation was not significantly associated with the prevalence of hypertension in coal miners,but mtDNA copy number shewed multiplication interaction on the prevalence of hypertension with alcohol drinking,family monthly income level as well as family history of hypertension and made their influences weaken.

Objective The localization of pulmonary nodules in surgery remains a clinical challenge .In this study we dis-cussed the diagnostic and treatment value of CT-guided coil localization followed by real-time digital subtraction angiography ( DSA)-guided accurate resection of solitary pulmonary nodules (SPN) with video-assisted thracoscopic surgery (VATS). Methods This study involved 82 cases of SPN treated in the Department of Cardiothoracic Surgery of Jinling Hospital from September 2011 to May 2014 .The SPNs were preoperatively positioned by placing a metal coil close to the lesion under CT guidance on the same day of surger -y.Then VATS wedge resection of the SPNs was performed under the guidance of real -time DSA and further procedures followed in ac-cordance with the results of intraoperative pathology . Results The success rate of coil localization was 100%, the mean time of po-sitioning was (15.3 ±3.2) min, and the mean time of VATS wedge resection was (24.2 ±12.1) min.Pathological results revealed 45 cases of malignancy and 37 cases of benign lesions . Conclusion Preoperative CT-guided coil localization of SPNs showed a high accuracy and no serious complications , and by real-time DSA-guided VATS that immediately followed , the nodules could be precisely removed with the cutting edge 2 cm above the lesion , which achieved both the purposes of diagnosis and treatment of SPNs .

Objective To investigate the expressions of HBXIP and GRIM-19 in hepatocellular carcinoma tissues and their clinic significance. Methods Hepatocellular carcinoma tissue (n=42) and normal liver tissue (n=28) were collected from Tianjin First Central Hospital,immunohistochemistry was used to detect the expressions of HBXIP and GRIM-19 in these two groups. Results Rate of cells with positive expressions of HBXIP in hepatocellular carcinoma and normal liver tissues were 80.95%(34/42)and 42.86%(12/28)respectively;Rate of cells with positive expression of GRIM-19 in hepato?cellular carcinoma tissues and normal liver tissues was 40.48%(17/42)and 75.00%(21/28)respectively, and the difference between these two groups was statistically significant(P<0.05);The expression of HBXIP was higher but the expression of GRIM-19 was lower in poor differentiated and stageⅢ-IV cells than those in well and moderate differentiated cells and in stage I-II, cells. What′s more, the expression of GRIM-19 is higher in tissue without portal thrombosis than that in tissue with portal thrombosis. The expression of HBXIP was negatively correlated with GRIM-19 expression(rS=-0.400,P<0.01). Conclusion The abnormal expressions of HBXIP and GRIM-19 may play important roles in the process of development and metastasis of hepatocellular carcinoma.

Desmoid tumor of abdominal wall was also known as fibronmatosis of abdominal wall.It is a rare benign fibroblastic tumor, which is characterized by non-enveloped,strong local infiltration, with high recurrence rate after surgery.In December 2011, one patient with huge desmoid tumor of abdominal wall with intestinal tube received surgical resection with single-stage patch repair for the large defect in abdominal wall at the 210th Hospital of PLA, and the result was satisfactory.