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OBJECTIVE@#To analyze the result of prenatal diagnosis and outcome of pregnancy for fetuses with rare autosomal trisomies (RATs) suggested by non-invasive prenatal testing (NIPT).@*METHODS@#A total of 69 608 pregnant women who underwent NIPT at Genetics and Prenatal Diagnosis Center of the First Affiliated Hospital of Zhengzhou University from January 2016 to December 2020 were selected as study subjects. The result of prenatal diagnosis and outcome of pregnancy for those with a high risk for RATs were retrospectively analyzed.@*RESULTS@#Among the 69 608 pregnant women, the positive rate of NIPT for high-risk RATs was 0.23% (161/69 608), with trisomy 7 (17.4%, 28/161) and trisomy 8 (12.4%, 20/161) being the most common, and trisomy 17 (0.6%, 1/161) being the rarest. For 98 women who had accepted invasive prenatal diagnosis, 12 fetal chromosomal abnormalities were confirmed, and in 5 cases the results were consistent with those of NIPT, which yielded a positive predictive value of 5.26%. Among the 161 women with a high risk for RATs, 153 (95%) were successfully followed up. 139 fetuses were ultimately born, with only one being clinically abnormal.@*CONCLUSION@#Most women with a high risk for RATs by NIPT have good pregnancy outcomes. Invasive prenatal diagnosis or serial ultrasonography to monitor fetal growth, instead of direct termination of pregnancy, is recommended.
Subject(s)
Pregnancy , Female , Humans , Trisomy/genetics , Pregnancy Outcome , Retrospective Studies , Prenatal Diagnosis/methods , Fetus , Trisomy 18 Syndrome/genetics , AneuploidyABSTRACT
Objectives:This study aimed to evaluate the predictive value of the CHA 2DS 2-VASc score for in-hospital outcomes of patients with acute myocardial infarction (AMI). Methods:Data of 23 728 patients from the China patient-centered Evaluative Assessment of cardiac Events (China PEACE)Retrospective Acute Myocardial Infarction Study were analyzed retrospectively. The patients were categorized into 3 groups according to the CHA 2DS 2-VASc scores: the low score group (score 1-3), the middle score group (score 4-6) and the high score group (score 7-9). The in-hospital outcomes included major adverse cardiovascular events (MACE), death, death or withdrawal from treatment, reinfarction, ischemic stroke,etc. The CHA 2DS 2-VASc score was incorporated into multivariate Cox regression analyses to determine its independent impact on in-hospital outcomes. Receiver operating Characteristic (ROC) curves were constructed, and the area under the curve (AUC) was used to evaluate the predictive value of the CHA 2DS 2-VASc score for in-hospital mortality and death or withdrawal from treatment, respectively. Results:The patients had a median age of 66 (56,75) years, and 30.7% of them were females. Patients with higher CHA 2DS 2-VASc scores had a higher in-hospital mortality and more in-hospital complications (all P<0.001). After adjustment of baseline covariates, the subjects in the high score group were associated with high risks of in-hospital mortality ( OR=6.13, 95% CI 4.77-7.87, P<0.001), death or treatment withdrawal ( OR=6.43, 95% CI 5.16-8.00, P<0.001) and MACE ( OR=4.94, 95% CI 4.06-6.01, P<0.001). The AUCs of the CHA 2DS 2-VASc score were comparable with those of the mini-global registry of acute coronary events(mini-GRACE)score in evaluation of in-hospital mortality (0.699 vs. 0.696, P=0.752) and the death or treatment withdrawal risk (0.708 vs. 0.713, P=0.489). Conclusions:The CHA 2DS 2-VASc score is an independent predictor of in-hospital outcomes for patients with AMI. Its predictive value was comparable with the mini-GRACE score, which could be used as a simple tool for early and rapid outcome evaluation for AMI patients.
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OBJECTIVES@#To study the effect of somatostatin on postoperative gastrointestinal function and stress level in children with acute abdomen.@*METHODS@#A total of 102 children with acute abdomen who underwent surgery in Xuzhou Children's Hospital from August 2019 to June 2021 were enrolled as subjects and were randomly divided into an observation group and a control group, with 51 children in each group. The children in the control group were given conventional treatment such as hemostasis and anti-infective therapy after surgery, and those in the observation group were given somatostatin in addition to conventional treatment. Peripheral blood samples were collected from both groups before surgery and on days 1 and 5 after surgery. The two groups were compared in terms of the serum levels of endothelin-1 (ET-1), adrenocorticotropic hormone (ACTH), cortisol, gastrin, and motilin, postoperative recovery, and the incidence rate of complications.@*RESULTS@#There was no significant difference in the serum levels of ET-1, ACTH, cortisol, gastrin, and motilin between the two groups before surgery (P>0.05). Compared with the control group, the observation group had significantly lower serum levels of ET-1, ACTH, and cortisol on days 1 and 5 after surgery (P<0.05) and significantly higher levels of motilin and gastrin on day 5 after surgery (P<0.05). Compared with the control group, the observation group had significantly shorter time to first passage of flatus, first bowel sounds, and first defecation after surgery, as well as a significantly shorter length of hospital stay (P<0.05). The incidence rate of complications in the observation group was significantly lower than that in the control group (6% vs 24%, P<0.05).@*CONCLUSIONS@#In children with acute abdomen, somatostatin can significantly reduce postoperative stress response, improve gastrointestinal function, and reduce the incidence rate of complications, thereby helping to achieve a good prognosis.
Subject(s)
Child , Humans , Abdomen , Abdomen, Acute , Adrenocorticotropic Hormone , Gastrins , Hydrocortisone , Motilin , Postoperative Complications , Prospective Studies , Somatostatin/therapeutic useABSTRACT
Objective:Cytogenetic and molecular genetic analysis was performed on two consecutive antenatal abnormal fetuses and their parents in a family to clarify the copy number variation(CNV) and its mechanism.Methods:The karyotypes of two fetuses and their parents were analyzed by conventional karyotyping techniques, and CNVs of two fetuses and their mother were analyzed by low-coverage whole-genome copy number variation sequencing (CNV-seq) techniques.Results:The amniotic fluid karyotype results of fetus 1 and 2 were 46, XN, der(4)t(4;10)(q35;p13). The mother′s peripheral blood karyotype result was 46, XX, t(4;10)(q35;p13), and the father′s karyotype was normal. The CNV-seq results of fetus 1 and 2 were seq[hg19]6q22.31(122740000-125440000)X1; 10p15.3p13(120000-17260000)X3, suggesting that there was a heterozygous deletion of about 2 700 000 bp in fetal 6q22.31 and a duplication of about 17 140 000 bp in fetal 10p15.3p13. The CNV-seq result of their mother was seq[hg19]6q22.31(122740000-125440000)X1, suggesting that there was a heterozygous deletion of about 2 700 000 bp in 6q22.31. The pregnant woman and her family chose to terminate the pregnancy after genetic consulting.Conclusion:The combined application of karyotyping and CNV-Seq is significantly beneficial to detecting microdeletions or microduplications of fetal chromosomes and effectively preventing the birth of defective children.
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OBJECTIVE@#To identify genetic variants among patients with methylmalonic acidemia and provide genetic evidence for prenatal diagnosis.@*METHODS@#Thirty-one probands and their parents were subjected to next generation sequencing (NGS). Suspected variants were verified by Sanger sequencing.@*RESULTS@#25 probands or their parents were found to harbor previously known pathogenic or likely pathogenic variants, and three probands were found to carry heterozygous MMACHC exonic deletion. The overall diagnostic yield was 90.32%.@*CONCLUSION@#NGS can improve the detection rate for methylmalonic acidemia for its accuracy and efficiency, yet the detection of exonic deletion is required to further improve the diagnostic yield. The identification of specific variants provided evidence for prenatal diagnosis.
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Female , Humans , Pregnancy , Amino Acid Metabolism, Inborn Errors/genetics , Heterozygote , High-Throughput Nucleotide Sequencing , Mutation , Oxidoreductases , Prenatal DiagnosisABSTRACT
Objective:To assess capacity of cardiovascular disease diagnosis and treatment service in primary health care (PHC) in Beijing-Tianjin-Hebei region.Methods:From September to December 2016, document acquisition and abstraction and in-person interviews were conducted on 327 PHC institutions and their medical staff from 43 districts/counties in the Beijing-Tianjin-Hebei region to comprehensively assess their infrastructure and services, human resources, health information system and drug availability related to cardiovascular disease diagnosis and treatment.Results:⑴ Infrastructure and services: 30.0% Community Health Center (CHC) and 100.0% Township healthcare center (THC) provided inpatient services, 20.5%, 98.1% village clinic (VC) could not provide blood glucose tests and lipid tests, respectively; ⑵ Human resources: in CHC, THC or CHS, 19.6% doctors' educational levels were below the requirement for a licensed assistant doctor, and in VC, 32.4% doctors' educational levels were below the requirement for village doctors. 56.3%CHC、THC and CHS, 99.5% VC could not provide government-funded " four insurances and one allowance" for non-registered staff, and 30.0% village doctors had exceeded 60 years old; ⑶ Health information system: 40.0% CHC, 41.7% THC, and 0 VC had electronic medical record (EMR), respectively; ⑷ Drug availability: 71.9% PHC institutions stored all four types of antihypertensive drugs [angiotensin-converting enzyme inhibitors/angiotensin receptor blockors (ACEIs/ARBs), β-blockers, calcium channel blockers (CCBS), diuretics], and 2.1% did not have any.Conclusions:The capacity of cardiovascular disease diagnosis and treatment services in PHC institutions in Beijing-Tianjin-Hebei region are fair in general, but efforts should still be made to enhance the infrastructure construction, improve the remuneration packages of PHC doctors, promote the comprehensive ability of PHC doctors, optimize the layout of urban and rural health resources, strengthen the information construction, and improve the joint development of medical system in the three cities and provinces.
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BACKGROUND@#The association between heart rate and 1-year clinical outcomes in heart failure (HF) patients with atrial fibrillation (AF), and whether this association depends on left ventricular ejection fraction (LVEF), are unclear. We investigated the relationship between discharge heart rate and 1-year clinical outcomes after discharge among hospitalized HF patients with AF, and further explored this association that differ by LVEF level.@*METHODS@#In this analysis, we enrolled 1760 hospitalized HF patients with AF from the China Patient-centered Evaluative Assessment of Cardiac Events Prospective Heart Failure study from August 2016 to May 2018. Patients were categorized into three groups with low (<65 beats per minute [bpm]), moderate (65-85 bpm), and high (≥86 bpm) heart rate measured at discharge. Cox proportional hazard models were employed to explore the association between heart rate and 1-year primary outcome, which was defined as a composite outcome of all-cause death and HF rehospitalization.@*RESULTS@#Among 1760 patients, 723 (41.1%) were women, the median age was 69 (interquartile range [IQR]: 60-77) years, median discharge heart rate was 75 (IQR: 69-84) bpm, and 934 (53.1%) had an LVEF <50%. During 1-year follow-up, a total of 792 (45.0%) individuals died or had at least one HF hospitalization. After adjusting for demographic characteristics, smoking status, medical history, anthropometric characteristics, and medications used at discharge, the groups with low (hazard ratio [HR]: 1.32, 95% confidence interval [CI]: 1.05-1.68, P = 0.020) and high (HR: 1.34, 95% CI: 1.07-1.67, P = 0.009) heart rate were associated with a higher risk of 1-year primary outcome compared with the moderate group. A significant interaction between discharge heart rate and LVEF for the primary outcome was observed (P for interaction was 0.045). Among the patients with LVEF ≥50%, only those with high heart rate were associated with a higher risk of primary outcome compared with the group with moderate heart rate (HR: 1.38, 95% CI: 1.01-1.89, P = 0.046), whereas there was no difference between the groups with low and moderate heart rate. Among the patients with LVEF <50%, only those with low heart rate were associated with a higher risk of primary outcome compared with the group with moderate heart rate (HR: 1.46, 95% CI: 1.09-1.96, P = 0.012), whereas there was no difference between the groups with high and moderate heart rate.@*CONCLUSIONS@#Among the overall HF patients with AF, both low (<65 bpm) and high (≥86 bpm) heart rates were associated with poorer outcomes as compared with moderate (65-85 bpm) heart rate. Among patients with LVEF ≥50%, only a high heart rate was associated with higher risk; while among those with LVEF <50%, only a low heart rate was associated with higher risk as compared with the group with moderate heart rate.@*TRAIL REGISTRATION@#Clinicaltrials.gov; NCT02878811.
Subject(s)
Aged , Female , Humans , Male , Middle Aged , Atrial Fibrillation , Heart Failure , Heart Rate , Patient Discharge , Prospective Studies , Stroke Volume , Ventricular Function, LeftABSTRACT
OBJECTIVES@#The waiting room for surgery is an area set up to improve the surgical turnover rate, but the waiting time for surgery is uncertain. Patients are prone to negative emotions that affect their physiological state during waiting time. This study aims to explore the effect of Mandala painting intervention based on Mandala-self theory on the emotion and physiological state of patients waiting before operation.@*METHODS@#The patients in the control group (@*RESULTS@#Diastolic pressure, heart rate, and happiness and excitement showed no statistical significance in the time effect, intervention effect, and interaction between the 2 factors (all @*CONCLUSIONS@#The application of Mandala painting in the operation waiting room is feasible and can effectively regulate the patients' negative mood and systolic pressure, as well as shorten the waiting time of perception.
Subject(s)
Humans , Anxiety , Emotions , Heart Rate , Pain , Waiting RoomsABSTRACT
OBJECTIVE：To establish t he metho d for the content determination of pulegone in Schizonepetae tenuifolia decoction pieces and its compound preparation. METHODS ：Hollow fiber liquid-phase microextraction coupled with HPLC （HF-LPME-HPLC） was adopted. Based on single factor tests ，HF-LPME condition of S. tenuifolia decoction pieces and its compound preparation （taking Compound S. tenuifolia granule as an expample ） was optimized by central composite design-response surface methodology using pulegone enrichment multiple as index ，with the concentration of sample phase solution （NaCl），extraction time and stirring speed as factors. Validation test was conducted. HPLC method was adopted to determine the content of pulegone. The determination was performed on Hypersil C 18 column with mobile phase consisted of methanol- 0.3％ phosphoric acid （gradient elution ）at the flow rate of 1.0 mL/min. The detection wavelength was set at 252 nm，the column temperature was 25 ℃. The sample size was 20 μL. The feasibility of HF-LPME-HPLC method established in this study was validated by using HPLC method stated in the item of S. tenuifolia decoction pieces in 2020 edition of Chinese Pharmacopoeia （part Ⅰ）as reference. RESULTS ：The optimum HF-LPME conditions included n-nonanol as the extraction solvent ，sample phase solution with 11％ NaCl and pH value of 7，stirring speed of 800 r/min，extraction time of 36 min. Results of HPLC methodology investigation showed that linear range of pulegone were 0.05-5 μg/mL（r＝0.999 0）. The limits of detection and quantitation were 0.4 and 1.3 ng/mL，respectively. RSDs of intra-day and inter-day precision were 1.8％-4.0％ and 1.5％-4.1％（n＝3），respectively. RSDs of reproducibility and stability tests （24 h）were all lower than 8％（n＝6）. Average recoveries of S. tenuifolia decoction pieces and Compound S. tenuifolia granule were 102.6％-105.1％ and 97.2％-102.3％，respectively；RSDs were not higher than 4.1％ and 6.2％（n＝3）. The average contents of pulegone in S. tenuifolia decoction pieces determined by pharmacopoeia method and established method were 0.84 mg/g（RSD＝4.3％ ，n＝3）and 0.87 mg/g（RSD＝5.5％ ，n＝3），respectively，with no significant difference （P＞0.05）. CONCLUSIONS ：The established HF-LPME-HPLC method can enrich and concentrate pulegone ， shows strong purification ability and high sensitivity ，and can be used to determine the contents of pulegone in S. tenuifolia decoction pieces and its compound preparation.
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OBJECTIVE@#To investigate the expression efficiency of exogenous gene mediated by different serotypes of adeno-associated virus (AAV) vectors in retina, and to compare the expression efficiency of AAV vector and two kinds of promoters commonly used in ophthalmology after transfection into mouse retina, so as to provide the basis for selecting appropriate AAV vector and promoter for gene therapy of retinitis pigmentosa.@*METHODS@#AAV2/2, AAV2/5, AAV2/8 and AAV2/9 were prepared. The C57BL/6J mice were injected subretinally with 1 μL purified AAV vectors (1.00×1013 mg/L). Then the mice were killed 2 or 4 weeks after treatment, and the eyes were enucleated for frozen section. The expression of green fluorescent protein (GFP) was observed under the confocal microscope. Two kinds of promoters, CMV and CAG, were selectd, and the expression of AAV2/8-GFP-CMV and AAV2/8-GFP-CAG was observed under confocal microscope.@*RESULTS@#No bacterial infection or immune response were seen in the injected mice. 2 weeks after injection, the GFP green fluorescence of AAV2/8 and AAV2/9 in the mouse retina was obvious, which indicated that the GFP green fluorescence of AAV2/8 and AAV2/9 was high after transfection into the mouse retina. In these two serotypes, GFP green fluorescence of AAV2/8 was mainly concentrated in photoreceptor cells while AAV2/8 was expressed in the whole retina, indicating that AAV2/8 was more specific to photoreceptors. Further experiments on AAV2/8 showed that the GFP green fluorescence of the mouse retina was obvious 4 weeks after injection, indicating that the exogenous gene mediated by AAV2/8 could be stably expressed in vivo. For CMV and CAG promoters, CMV promoter was expressed stronger in retinal pigment epithelium (RPE)cells, while CAG promoter was stronger in photorecepters. In photorecepters, CAG promoter was expressed almost the same as CMV promoter, while CMV promoter was stronger in RPE cells.@*CONCLUSION@#AAV vectors could express transgene robustly in retinal cells; Among several AAV serotypes, AAV2/2 and AAV2/5 showed weaker GFP fluorescence than AAV2/8 and AAV2/9. AAV2/9 showed expression in each layer of the retina including ganglion cells. AAV2/8 was more specific for photoreceptor; CAG promoters had higher specificity for photoreceptors than CMV promoters.
Subject(s)
Animals , Mice , Dependovirus/genetics , Genetic Vectors , Mice, Inbred C57BL , Retina , Serogroup , Transduction, GeneticABSTRACT
To scientifically evaluate the intervention effect of Chinese medicine preventive administration(combined use of Huo-xiang Zhengqi Oral Liquid and Jinhao Jiere Granules) on community population in the case of coronavirus disease 2019(COVID-19), a large cohort, prospective, randomized, and parallel-controlled clinical study was conducted. Total 22 065 subjects were included and randomly divided into 2 groups. The non-intervention group was given health guidance only, while the traditional Chinese medicine(TCM) intervention group was given two coordinated TCM in addition to health guidance. The medical instructions were as follows. Huoxiang Zhengqi Oral Liquid: oral before meals, 10 mL/time, 2 times/day, a course of 5 days. Jinhao Jiere Granules: dissolve in boiling water and take after meals, 8 g/time, 2 times/day, a course of 5 days, followed up for 14 days, respectively. The study found that with the intake of medication, the incidence rate of TCM intervention group was basically maintained at a low and continuous stable level(0.01%-0.02%), while the non-intervention group showed an overall trend of continuous growth(0.02%-0.18%) from 3 to 14 days. No suspected or confirmed COVID-19 case occurred in either group. There were 2 cases of colds in the TCM intervention group and 26 cases in the non-intervention group. The incidence of colds in the TCM intervention group was significantly lower(P<0.05) than that in the non-intervention group. In the population of 16-60 years old, the incidence rate of non-intervention and intervention groups were 0.01% and 0.25%, respectively. The difference of colds incidence between the two groups was statistically significant(P<0.05). In the population older than 60 years old, they were 0.04% and 0.21%, respectively. The incidence of colds in the non-intervention group was higher than that in the intervention group, but not reaching statistical difference. The protection rate of TCM for the whole population was 91.8%, especially for the population of age 16-60(95.0%). It was suggested that TCM intervention(combined use of Huoxiang Zhengqi Oral Liquid and Jinhao Jiere Granules) could effectively protect community residents against respiratory diseases, such as colds, which was worthy of promotion in the community. In addition, in terms of safety, the incidence of adverse events and adverse reactions in the TCM intervention group was relatively low, which was basically consistent with the drug instructions.
Subject(s)
Adolescent , Adult , Humans , Middle Aged , Young Adult , Betacoronavirus , Coronavirus Infections , Drug Therapy , Drugs, Chinese Herbal , Medicine, Chinese Traditional , Pandemics , Pneumonia, Viral , Drug Therapy , Prospective StudiesABSTRACT
OBJECTIVE@#To identify pathogenic variants in two families with patients suspected for Joubert syndrome(UBST) by cerebellar vermis hypoplasia.@*METHODS@#Clinical data and peripheral venous blood and skin tissue samples were collected for the extraction of genomic DNA. Potential variants were screened by using targeted capture and next generation sequencing. Suspected variants were validated by PCR and Sanger sequencing. The frequency of the variants in the population was calculated. Pathogenicity of the variants was predicted by following the guidelines of the American College of Medical Genetics and Genomics (ACMG). Prenatal diagnosis was provided to these families upon subsequent pregnancy.@*RESULTS@#The proband of family 1 was found to harbor homozygous c.2072delT (p.F691S*fs19) frameshift variant of the AHI1 gene, which may cause premature termination of translation of the Abelson helper integration site 1 after the 691st amino acid. The proband of family 2 was found to harbor compound heterozygous variants of the CPLANE1 gene, namely c.7243dupA (p.T2415Nfs*7) and c.8001delG (p.K2667Nfs*31), which can respectively lead to premature termination of translation of ciliogenesis and planar polarity effector 1 after the 2145th and 2667th amino acids. All of the three variants were previously unreported, and were predicted to be pathogenic by bioinformatic analysis.@*CONCLUSION@#The AHI1 c.2072delT and CPLANE1 c.7243dupA and c.8001delG variants probably underlay JBTS3 in family 1 and JBTS17 in family 2, respectively. Based on above results, prenatal diagnosis may be offered to the affected families upon their subsequent pregnancies.
Subject(s)
Female , Humans , Pregnancy , Abnormalities, Multiple , Diagnosis , Genetics , Adaptor Proteins, Vesicular Transport , Genetics , Cerebellum , Congenital Abnormalities , Eye Abnormalities , Diagnosis , Genetics , Genetic Testing , Genetic Variation , Kidney Diseases, Cystic , Diagnosis , Genetics , Membrane Proteins , Genetics , Mutation , Prenatal Diagnosis , Retina , Congenital AbnormalitiesABSTRACT
OBJECTIVE@#To detect variants of EXT1 and EXT2 genes among five pedigrees affected with multiple osteochondromas and provide prenatal diagnosis for the families based on the results.@*METHODS@#The EXT1 and EXT2 genes of the probands were analyzed by targeted next generation sequencing (NGS). Suspected pathological variants were validated by Sanger sequencing in the probands, their family members and 200 unrelated healthy controls. Multiple ligation-dependent probe amplification (MLPA) was used to confirm the presence of gross deletions. Prenatal diagnosis was provided for 2 couples carrying pathogenic or likely pathogenic variants.@*RESULTS@#Five variants were detected in the pedigrees, which included EXT1 exon 2-3 deletion, c.1468dupC (p.Leu490ProfsX31), c.2084delC (p.Pro695LeufsX11), and EXT2 c.187delT (p.Phe63SerfsX29) and c.1362T>G (p.Tyr454X). Among these, EXT1 exon 2-3 deletion, c.2084delC (p.Pro695LeufsX11) and EXT2 c.187delT (p.Phe63SerfsX29) were unreported previously. The three novel variants were not found among unaffected members of the pedigree and the 200 healthy controls. Upon prenatal diagnosis, the two fetuses were found to carry the same variants of the the probands.@*CONCLUSION@#Pathological variants of the EXT1 and EXT2 genes probably underlie the multiple osteochondromas among the 5 pedigrees. Prenatal diagnosis based on the results can effectively reduce the birth of further offspring affected with the disease.
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Objective@#To explore the genetic basis of an infant featuring congenital cataract, developmental delay and proteinuria.@*Methods@#Clinical data and peripheral blood samples of the family were collected. Potential variants were screened by using targeted capture and high-throughput sequencing on a NextSeq 500 platform. Suspected variant was verified by quantitative PCR. Pathogenicity of the candidate variant was predicted based on clinical presentation and laboratory tests.@*Results@#The infant’s phenotypes included brain development retardation and proteinuria. Cranial MRI indicated widening of cerebral fissure, bilateral frontal and temporal subarachnoid cavities, and dysplasia of white matter myelination in posterior angular of ventricle. A novel duplication of exons 5 to 16 of the OCRL gene was found in the patient. His mother has carried the same duplication variant.@*Conclusion@#The duplication variant of the OCRL gene probably underlies the oculo-cerebro-renal syndrome in the infant. Due to the heterogeneity of its clinical manifestation, pertinent genetic detection is essential for acurrate diagnosis of patients who have the related phenotypes.
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OBJECTIVE@#To explore the genetic basis of an infant featuring congenital cataract, developmental delay and proteinuria.@*METHODS@#Clinical data and peripheral blood samples of the family were collected. Potential variants were screened by using targeted capture and high-throughput sequencing on a NextSeq 500 platform. Suspected variant was verified by quantitative PCR. Pathogenicity of the candidate variant was predicted based on clinical presentation and laboratory tests.@*RESULTS@#The infant's phenotypes included brain development retardation and proteinuria. Cranial MRI indicated widening of cerebral fissure, bilateral frontal and temporal subarachnoid cavities, and dysplasia of white matter myelination in posterior angular of ventricle. A novel duplication of exons 5 to 16 of the OCRL gene was found in the patient. His mother has carried the same duplication variant.@*CONCLUSION@#The duplication variant of the OCRL gene probably underlies the oculo-cerebro-renal syndrome in the infant. Due to the heterogeneity of its clinical manifestation, pertinent genetic detection is essential for acurrate diagnosis of patients who have the related phenotypes.
Subject(s)
Humans , Infant , Exons , Genetics , Genetic Testing , Oculocerebrorenal Syndrome , Genetics , Phenotype , Phosphoric Monoester Hydrolases , GeneticsABSTRACT
Objective:To observe the effect of Liuwei Dihuangtang on the mitochondrial apoptotic pathway in rats with chronic renal failure. Method:The 45 male SD rats were randomly divided into normal group （n=10）， sham group （n=10） and operation group （n=25）. The operation group received 5/6 nephrectomy， and the rats in operation group were randomly divided into the model group and the treatment group after successful modeling. The treatment group received Liuwei Dihuangtang by gavage administration， while the rest of the three groups received equal volume of distilled water by gavage administration， with a treatment course of 8 weeks. The quantitative levels of serum creatinine （SCr）， blood urea nitrogen （BUN） and urine protein in each group were determined. Hematoxylin eosin （HE） staining and Masson staining were used to observe the histopathological changes of rat kidney. The structural changes of mitochondria in renal tubular epithelial cells were observed under electron microscope. The apoptotic rate was detected by terminal-deoxynucleoitidyl transferase mediated nick end labeling（TUNEL）. The expression of B cell lymphoma -2 （Bcl-2）， Bcl-2 associated X protein （Bax）， cytochrome C （Cyt C） and cysteine aspartic acid protease -3 （Caspase-3） were analyzed by Western blot and Real-time fluorescence quantitative polymerase chain reaction （Real-time PCR）. Result:As compared with the normal group， the quantitative levels of SCr， BUN and urinary protein in the model group were significantly increased （P<0.01）， and the above indicators were improved in the treatment group as compared with the model group （P<0.05）. No significant pathological changes and damage of mitochondrial structure were observed in the kidney tissues of the control group and the sham group. In the model group， there were different degrees of renal tubular atrophy and dilatation， interstitial inflammatory cell infiltration and collagen deposition， and mitochondria swelling and breaking， but such lesions were significantly alleviated in the treatment group. As compared with the normal group， apoptotic rate was increased significantly in model group （P<0.01）， the expression of Bax and Caspase-3 was significantly increased （P<0.01）， and the expression of Bcl-2 was significantly decreased （P<0.01）. As compared with the model group， apoptotic rate was significantly reduced in the treatment group （P<0.01）， the expression of Bax and Caspase-3 was significantly decreased （P<0.01）， and the expression of Bcl-2 was significantly increased （P<0.01）. In the normal group and sham group， Cyt C was mainly located in mitochondria. The expression of Cyt C in the cytoplasm of the model group was increased significantly （P<0.01）， while that of the treatment group was decreased （P<0.01）. Conclusion:Liuwei Dihuangtang can alleviate renal fibrosis and delay the progression of renal function. The mechanism of reducing apoptosis may be associated with protecting mitochondrial structure and regulating the expression of proteins related to mitochondrial apoptotic pathway.
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Since sorafenib has been first-line molecular-targeted drug for advanced hepatocellular carcinoma (HCC), clinical studies in the last 10 years failed to confirm that a new molecular-targeted drug or immune checkpoint inhibitor was superior or non-inferior to sorafenib, or approved second-line treatment for patients with the failure of sorafenib. However, many clinical studies published in 2017 have changed people′s previous understanding. REFLECT trial showed that as the first-line treatment of advanced HCC, lenvatinib was non-inferior than sorafenib. In addition, RESORCE trial and CheckMate-040 trial confirmed respectively that regorafenib and PD-1 inhibitor nivolumab were options of second-line treatment for patients with advanced HCC after sorafenib treatment. The development of these drugs will bring a new prospect for advanced HCC patients.
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Objective:To observe effect of ginsenoside Rh2 (GRh2) on the invasion and migration of colon cancer resistant cells HCT116/L-OHP and its specific mechanism. Method:Cell counting kit-8 (CCK-8) assay was used to detect the inhibitory effect of different concentrations of GRh2 (0, 2.5, 5, 10, 20, 40 mg·L-1) on HCT116/L-OHP cell proliferation, scratch assay, Transwell assay and adhesion assay were used to detect the effects of GRh2 (0, 2.5, 5, 10 mg·L-1) on cell migration, invasion and adhesion. The protein expression levels of E-cadherin and matrix metalloproteinase-9(MMP-9) were examined by Western blot. Result:Compared with control group, GRh2(5, 10, 20, 40 mg·L-1) significantly inhibited the proliferation of HCT116/L-OHP cells in a dose-dependent manner(PP2 group (5, 10 mg·L-1) was significantly decreased (PP2 group was significantly decreased (PP2 group was significantly reduced (PP2 (10, 20, 30 mg·L-1) promoted E-cadherin protein expression (PPPConclusion:GRh2 can significantly inhibit the invasion and migration of HCT116/L-OHP in colon cancer cells, and its potential mechanism may be related to the promotion of E-cadherin and the inhibition of MMP-9 expression in a dose-dependent manner.
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Humanistic care centered on the interests and needs of patients, is an important means to maintain the doctor-patient relationship and to build a harmonious society. However, there are still some problems in the major public hospitals, such as inadequate communication and coordination, complicated and time-consuming medical procedures, and so on. Based on this, this paper discussed the problems existing in public hospitals in Anhui Province, and put forward some measures, such as strengthening doctor-patient communication, caring for doctor-patient personnel, and constructing hospital culture, so as to perfect the humanistic care system.
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OBJECTIVE@#This study aims to observe the efficacy of vacuum sealing drainage (VSD) by continuous negative pressure drainage and saline irrigation in the treatment of oral and maxillofacial space infection.@*METHODS@#Retrospective analysis was conducted on 116 cases of maxillofacial space infection, and clinical data were collected to compare the therapeutic effects of routine incision with drainage treatment (traditional treatment group, 58 cases) and VSD treatment (VSD group, 58 cases).@*RESULTS@#The length of hospital stay, white blood cell count, scar length, frequency of dressing change, and pain degree of patients in the VSD group were all lower than those in the traditional treatment group. Moreover, the improvement degree of mouth opening in the VSD groups was better than that in the traditional treatment group (P<0.05).@*CONCLUSIONS@#VSD is a more effective method for the treatment of oral and maxillofacial space infection.