Clinical features, gene analysis and prenatal diagnosis with NDP gene mutation in a family / 中华眼底病杂志

Objective:To observe and determine the gene mutation site and clinical phenotype of a NDP gene mutant family, and provide a basis for the prenatal diagnosis of offspring. Methods:A pedigree investigation study. Two patients and 6 family members of a third-generation Han family with NDP gene mutation who were admitted to the Maternal and Child Health Hospital of Gansu Province from July 2019 to December 2021 were included in the study. The patients and their parents underwent the examination of pupil light reflex, strip light imaging, visual acuity evaluation, fundus color photography, and wide-field fluorescein fundus angiography (FFA). Peripheral blood of all the subjects was collected, the pathogenic genes were screened by whole exome sequencing, and NDP genes were detected by amplification of multiple ligated probes. DNA prenatal diagnosis was performed by amniocentesis at 19th weeks of the mother's third gestation. Results:Proband (Ⅲ1), male, 4 years old, full term natural delivery. At about 40 days after birth, B-mode ultrasonography indicated total retinal detachment in both eyes. Normal hearing and intelligence. Fundus examination was not performed. First sibling of proband (Ⅲ2, big younger brother), ophthalmologic examination 30 days after birth, retinal detachment in both eyes. Proband's mother (Ⅱ2) had unvascularized peripheral temporal retina in both eyes. Wide-angle FFA examination showed no vascularization of the peripheral temporal retina in both eyes, and slight leakage of peripheral vascular fluorescein. The proband's second sibling (Ⅲ3, little younger brother) was screened for neonatal eye disease 1 day after birth. No abnormalities were observed outside both eyes. Cornea and lens transparent. No abnormalities were observed in the optic disc and macula in both eyes. No vascular curvature was observed in the peripheral retina. The results of gene detection showed that there was hemizygote deletion in exon 2 of NDP gene of the proband (Ⅲ1) and its big younger brother (Ⅲ2). His mother (Ⅱ2) had heterozygosity deletion in exon 2 of NDP gene. The phenotype and genetic test results of the proband's father (Ⅱ1), uncle (Ⅱ3), maternal grandfather (Ⅰ1) and maternal grandmother (Ⅰ2) were not abnormal. Conclusions:The hemizygote deletion in exon 2 of NDP gene is a pathogenic variation in the native family. The clinical phenotypes of different genders are different. Prenatal diagnosis is an effective way to block hereditary diseases in families.

Relationship between 24 h ambulatory blood pressure and severity of white matter hyperintensities / 国际脑血管病杂志

Objective To investigate the correlation between 24 h ambulatory blood pressure monitoring (ABPM) parameters and white matter hyperintensities (WMHs).Methods A cross-sectional analysis was performed in patients who visited the Department of Neurology,Liaoning People's Hospital,and showed WMHs on the head MRI and completed 24 h ABPM in the same period of hospitalization from September 2016 to October 2018.Periventricular white matter hyperintensities (PVWMHs) and deep white matter hyperintensities (DWMHs) were evaluated using the modified Scheltens scale respectively,and the sum of the two was used as the overall severity score of WMHs.The enrolled patients were grouped according to the tertiles of the overall WMH score.Multivariate ordinal logistic regression analysis was used to investigate independent risk factors affecting overall WMH scores.Multivariate linear regression analysis was used to investigate the influencing factors of PVWMH and DWMH scores.Results A total of 201 patients were enrolled,aged (62.7 ± 10.3) years (range 45-88 years),82 males (40.8％),and 123 patients (61.2％) with hypertension.The total WMH scores were 1-27.According to the tertiles,64 patients (31.8％) were divided into lower tertile group (1-3),65 (32.3％) in the middle tertile group (4-8),and 72 (35.8％) in the higher tertile group (9-27).There was significant difference in age between any two WMH score groups,namely,the high tertile group ＞ middle tertile group ＞ low tertile group (69.5 ± 8.5 years vs.63.1 ±9.2 years vs.54.5 ±6.9 years;all P＜0.001).The proportion of hypertension in the middle tertile group (66.2％) and the higher tertile group (69.4％) were significantly higher than those in the lower tertile group (46.9％;all P＜0.05).The homocysteine in the higher tertile group was significantly higher than that in the lower tertile group (15.6 [12.7-19.7]μmol/Lvs.14.1[12.5-15.9]μmol/L;P ＜0.05).In terms of 24 h ABPM parameters,the 24 h mean systolic blood pressure (24 h SBP) in the higher tertile group was higher than that in the lower tertile group,and the nighttime mean systolic blood pressure (nSBP) level in the higher tertile group was higher than that in the lower and middle tertile groups,the SD of daytime systolic blood pressure (dSBPSD) and the SD of the nighttime systolic blood pressure (nSBPSD) in the higher tertile group were higher than those in the lower tertile group,and dSBPSD of the middle tertile group was higher than of the lower tertile group.The above differences were statistically significant (all P ＜0.05).Multivariate ordinal logistic regression analysis showed that the increased age (odds ratio[OR] 1.143,95％ confidence interval[CI] 1.104-1.185;P＜0.001),24 h SBP (OR 1.026,95％ CI 1.005-1.048;P =0.015),dSBP (OR 1.022,95％ CI 1.001-1.043;P =0.036),nSBP (OR 1.026,95％ CI 1.006-1.046;P=0.011),dSBPSD (OR 1.119,95％ CI 1.023-1.221;P=0.013),and nSBPSD (OR 1.107,95％ CI 1.022-1.200;P=0.013) were independently positively correlated with the overall WMH score.Multivariate linear regression showed that age (β=0.607,95％ CI 0.500-0.714;P＜0.001),24 h SBP (β=0.182,95％ CI 0.075-0.289;P=0.001),dSBP (β=0.156,95％ CI 0.049-0.264;P=0.004),and nSBP (β =0.200,95％ CI 0.092-0.307;P ＜0.001) were independently positively correlated with the PVWMH score;age (β =0.505,95％ CI 0.387-0.622;P ＜0.001),24 h SBP (β =0.132,95％ CI 0.015-0.248;P =0.027),dSBP (β =0.127,95％ CI0.011-0.243;P =0.032),nSBP (β =0.148,95％ CI 0.031-0.265;P =0.013),and nSBPSD (β =0.133,95％ CI 0.016-0.250;P=0.027) were independently positively correhted with the DWMH score.Conclusion The increased age,ambulatory systolic blood pressure level (24 h,daytime,nighttime) and systolic blood pressure variability level (dSBPSD and nSBPSD) were independently associated with the severity of WMHs.

Metabolic syndrome and colon cancer:a Meta-analysis / 重庆医学

Objective To investigate the association between Metabolic syndrome and colon cancer.Methods A literature search was performed through PubMed,Ovidsp,CNKI and Wangfang Data within the time limit of January 1 990 to May 2014.Ac-cording to the inclusion and exclusion criteria,the studies were screened and the data were extracted.Then Meta-analysis was per-formed using Stata Statistical Software version 12.0.Results A total of 8 studies(6 cohort studies and 2 case-control studies)met the inclusion criteria.Meta analysis showed that patients with Metabolic syndrome had a higher risk of colon cancer incidence com-pared with the control group without Metabolic syndrome(OR =1.43,95%CI :1.23 - 1.66,P <0.05 ).Stratified analysis showed Metabolic syndrome had a higher risk of colon cancer incidence in male(OR=1.50,95%CI :1.22-1.84,P <0.05),but in female, this association was not found(OR=1.39,95%CI :0.98- 1.96,P =0.07).In addition,Meta analysis showed that Metabolic syn-drome was not associated with an increased risk of colon cancer mortality(OR=1.22,95%CI :0.92-1.63,P =0.1 7).Conclusion This Meta analysis indicated a positive association between Metabolic syndrome and colon cancer incidence in male,but not in fe-male.Metabolic syndrome might not be associated with an increased risk of colon cancer mortality,yet it needs more prospective co-hort studies to confirm the conclusion.

Research progress in the correlation between microRNAs and glioma / 医学研究生学报

MicroRNAs ( miRNAs) are a kinds of small non-coding RNA that regulate the expression of gene at the posttran-scriptional level and play important roles in a variety of physiological and pathological processes such as proliferation , differentiation and apoptosis.Recently, it has been reported that miRNAs expression abnormalities are closely associated with the initiation and devel -opment of glioma .Moreover , the expression levels of some miRNA are specifically involved in the molecular pathogenesis of glioma , revealing their great potential as a class of novel biomarkers for cancers and therapeutic targets .In this review , we summarizes the lat-est researches on miRNA and glioma .

CT differential diagnostic value of small bowel wall thickness and density changes in small bowel obstruction / 中华放射学杂志

Objective To investigate the CT diagnostic value of small bowel wall thickness and density in differentiating simple small bowel obstruction (SI) from strangulative small bowel obstruction (ST).Methods Fifty-three cases with thickened small bowel wall (thickness ＞ 3 mm) confirmed on CT scan were reviewed,including 27 cases of SI and 26 cases of ST,in conjunction with their proven intraoperational,pathological and clinical findings.Of the 53 cases,35 cases also underwent postcontrast CT scan.CT manifestations of relationships between thickened small bowel wall and its density were classified as normal,higher or lower density in tunica mucosa of small bowel wall,higher or lower density in full thickness of small bowel wall for exploring the differential diagnostic features between SI and ST on CT scan.Chi-square or Fisher exact test were used to test the proportion difference of CT scan between SI and ST.Results In cases with normal density in tunica mucosa (NDTM) on precontrast CT,there were 21 cases of SI and 6 cases of ST(x2 =15.859,P ＜0.01).However,in cases with NDTM on postcontrast CT,there were 13 cases of SI and 5 cases of ST,and there was no significant difference (x2 =1.377,P ＞ 0.05).Thus,NDTM showed no convincing value in differentiating SI from ST.In cases with lower density in tunica mucosa (LDTM) on precontrast CT,there were 4 cases of SI and 5 cases of ST (P ＞ 0.05).In cases with LDTM on postcontrast CT,there were 4 cases of SI and 4 cases of ST (P ＞ 0.05).Thus,LDTM also showed no value in differentiating SI from ST.The lower density in full thickness of small bowel wall (LDFTS) was revealed in 0 of SI and 10 cases of ST on precontrast CT (P ＜ 0.01),and 0 of SI and 5 cases of ST on postcontrast CT (P ＜ 0.01),indicating that LDFTS showed significant value in differentiating SI from ST.Conclusion Combining the small bowel wall thickness and density,CT manifestations of early bowel wall pathological changes in small bowel obstruction can be acquired,adding some value in the differential diagnosis between SI and ST.

Study on chronotropic response in coronary disease with percutaneous coronary intervention / 中国医师杂志

Objecitve To investigate the changes of chronotropic response before and after percutaneous coronary intervention ( PCI)in patients with coronary disease .Methods A total of 339 patients with coronary disease was included in this study .All sub-jects underwent treadmill exercise test and coronary angiogram , and some patients underwent PCI if necessary .The parameters of chro-notropic response were recorded and analyzed , including ratio of the highest to predicted heart rates ( rHR) ,chronotropic response in-dex ( CRI) , and heart rate reserve ( HRR) .After coronary angiogram , the score of gensin was recorded and analyzed .Results There was significant difference in the parameter of CRI between unstable angina pectoris and silent myocardial ischemia groups ( P 40 ( t =2.567, 2.223, 2.062, all P <0.05).Conclusions Parameters (rHR, CRI, and HRR) had important clinical values in evaluating the changes of chronotropic response before and after PCI in patients with coronary disease with a negative correlation with the score of Gensin.

Interleukin-1 beta gene polymorphisms and variation in whole genomic expression profiles of chronic atrophic gastritis / 中华消化杂志

Objective To investigate the whole genomic expression profiles of chronic atrophic gastritis with interleukin(IL)-1β-31CC/-511TT genotype as measured by oligonucleotide microarray technique.Methods Genomic RNA was extracted from gastric biopsies of 12 patients with chronic atrophic gastritis(6 with IL-1β-31CC/-511TT and 6 with IL-1β-31TT/-511CC).The genomic profiles of IL-1β gene polymorphisms 31CC/-511TT and 31TT/-511CC were compared and tested for differential expressed genes associated with 31CC/-511TT using Agilent human whole genomic oligonucleotide microarrays.The results were further analyzed in terms of gene ontology(GO).Results There were 200 differentially expressed genes associated with IL-1β-31CC/-511TT,159 of which were up-regulated and 41 were down-regulated.These genes mainly involved in macromolecule metabolic process,post-translational protein modification,ubiquitin cycle,and protein kinase cascade.Five genes had biological activities,one of which was down-regulated gene(PCSK5)and 4 were upregulated genes(PRKCA,NPLOC4,TRIB3 and MAPKAPK3).Conclusions The chronic atrophic gastritis with IL-1β-31CC/-511TT genotype has molecular phenotypes which is associated with malignance and inflammation.These individuals are needed more intensive preemptive treatment and dynamic surveillance.

Psychosocial Factors and Immune Function of Patients with Malignant Tumors / 中国心理卫生杂志

Objective: To study the relationship between immune function and psychosocial factors of patients with malignant tumors Method:37 inpatients with malignant tumors were collected They had no chemotherapy or radiotherapy in the past month and without history of immune disease or medication influencing immune system 37 inpatients of internal department without tumor were collected as control All subjects completed EPQ, SCL-90, SAS, SDS, LES, SSRS and DSQ Researchers assessed their mood with HAMA and HAMD, and their immune function by measuring serum IgG, IgA, IgM, C 3, C 4, CH50 and sub-groups of lymphocyte Results:Study group had lower IgM and less CD 16 + than control The level of IgM was associated with course of disease, educational level, gender, personality, defense style, negative life events and social support The level of CD 3 + was associated with depression in addition to other factors mentioned above Conclusion: Patients with malignant tumors have immune dysfunction, which associated with psychosocial factors such as negative life events, social support and depression