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Objective:To study the clinical characteristics of different types of neonatal sepsis.Methods:From January 2012 to December 2019, neonates with confirmed sepsis from 5 neonatal centers of central-south China were reviewed. The neonates were assigned into early-onset sepsis (EOS) and late-onset sepsis (LOS) group, and the latter was further subgrouped into hospital-acquired LOS (hLOS) group and community-acquired LOS (cLOS) group. The etiological and clinical characteristics were analyzed. SPSS 26.0 was used for statistical analysis.Results:A total of 580 neonates were enrolled, including 286 (49.3%) in the EOS group and 294 (50.7%) in the LOS group. In LOS group, 147 were in hLOS group and 147 were in cLOS group. The gestational age and birth weight of hLOS group were significantly lower than the other two groups [(32.7±3.6) weeks vs. (37.1±3.7) weeks and (37.7±3.0) weeks, (1 810±717) g vs. (2 837±865) g and (3 024±710) g] ( P<0.05). The common pathogens in EOS and cLOS groups were coagulase-negative staphylococci and Escherichia coli, while Klebsiella pneumoniae was common in hLOS group. Carbapenems usage in the hLOS group was significantly higher than the other two groups [62.6% vs. 28.7% and 16.2%] ( P<0.05). Antibiotics duration in the hLOS group was longer than the other two groups [19 (14, 27) d vs. 15 (12, 20) d and 14 (12, 19) d] ( P<0.05). Conclusions:The clinical characteristics of neonatal sepsis vary among different types of infections, and it is necessary to establish appropriate prevention, control, diagnosis and treatment protocols.
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OBJECTIVE@#To study the molecular epidemiology of thalassemia in Jiaxing area of Zhejiang province and provide a basis for prenatal diagnosis, genetic counseling and prevention and control of birth defects.@*METHODS@#A total of 24 003 pregnant women who presented at the Jiaxing Maternal and Child Health Care Hospital from April 2017 to September 2021 were enrolled. Capillary hemoglobin electrophoresis in combination with routine blood test were used for primary screening for carriers of thalassemia-associated mutations, and those with positive results were subjected to fluorescence quantitative PCR assay. Prenatal diagnosis was provided for couples with a risk of giving birth to children with intermediate or severe thalassemia.@*RESULTS@#Among the 24 003 pregnant women, 1 211 cases were suspected as carriers of thalassemia-associated mutations, among whom 443 (36.58%) were confirmed by genetic testing. Among these, carriers of α-, β- and α-complex β-globin gene mutations have accounted for 27.31% (121/443), 70.65% (313/443) and 2.04% (9/443), respectively. The result of prenatal diagnosis for an at-risk couple was --SEA/αCSα, and the fetus was predicted to have intermediate or severe thalassemia. Termination of the pregnancy was recommended.@*CONCLUSION@#Hemoglobin electrophoresis combined with routine blood test during pregnancy may be used as a preliminary screening measure for carriers of thalassemia-associated variants. Combined with genetic testing, this will be of great significance for the control of thalassemia in this region.
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Female , Humans , Pregnancy , Electrophoresis, Capillary , Genetic Counseling , Genetic Testing , Mutation , Prenatal Diagnosis , Thalassemia/geneticsABSTRACT
【Objective】 To investigate the characteristics of HBV serological markers of NAT reactive blood donors under different HBsAg status. 【Methods】 NAT reactive samples, with HBsAg-, HBsAg+ /retest - and HBsAg+ by single reagent were collected from September 2021 to May 2022 in our laboratory. The TMA non-reactive samples were retested by Roche PCR, then HBsAg, anti-HBs, HBeAg, anti-HBe and anti-HBc were detected by ECLI for statistical analysis. 【Results】 A total of 66 samples were collected, among which 55 were HBsAg-/NAT+. The positive rate of anti-HBc, anti-HBs+ anti-HBc, anti-HBe+ anti-HBc was 87.3% (48/55), 43.6% (24/55) and 45.5% (25/55), respectively. The positive rate of anti-HBs was 10.9% (6/55) and the overall negative rate was 1.8% (1/55). In 7 HBsAg+ initially/retest -/NAT+ samples, the positive rate of anti-HBc was 100%(7/7), and the positive rate of anti-HBe+ anti-HBc was 71.4%(5/7). In 4 HBsAg+ /NAT+ samples by single reagent, the positive rate of HBsAg+ anti-HBs+ anti-HBe+ anti-HBc was 50% (2/4), and positive rate of anti-HBe+ anti-HBc was100% (4/4). Samples, not reactive to TMA discriminatory and anti-HBc negative, were also non-reactive to individual PCR retest. There were significant differences in the positive rates of anti-HBe+ anti-HBc between HBsAg-/NAT+ samples and HBsAg+ /NAT+ (single reagent) samples (P<0.05). 【Conclusion】 Most HBsAg-/NAT+ blood donors were occult hepatitis B virus infection.The anti-HBe+ anti-HBc positive were correlated with HBV infection status. Non-reactivity discriminated by TMA plus anti-HBc negative do not exclude HBV DNA non-reactivity.
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Objective:To evaluate the effect of rotational errors (antero-posterior) on dosimetric parameters of positive lymph nodes in the long target volumetric modulated arc therapy (VMAT) plan for advanced cervical cancer and investigate its coping strategies.Methods:Clinical data of patients with cervical cancer complicated with para-aortic or inguinal lymph node metastasis admitted to Affiliated Hospital of North Sichuan Medical College were randomly selected and retrospectively analyzed. The target areas of the lymph nodes at different distances from the center of the plan were outlined according to the requirements. After designing the VMAT plan on the CT images of each case, the rotational errors (antero-posterior) were introduced by changing the parameters of the treatment couch, and the dose distribution was reconstructed by dose calculation with other parameters unchanged. Then, the external boundary of the original lymph node target was added according to d=2πr(α/360) ( r is the distance from the center of the lymph node to the plan center), re-planned, and the changes of dosimetric parameters in the target area of the original lymph node were analyzed after the corresponding rotational errors were introduced. Results:When the distance between the lymph node target area and the plan center was 6 cm with an error of 3°, the distance was 9 cm and 12 cm with an error of 2.5°, the distance was 15 cm with an error of 2°, and the distance was 18 cm with an error of 1.5°, the mean change of D 95% was more than 5%. When the rotational errors were ≤1°, the mean change of D 95% in lymph node target area was less than 5%, and when the lymph node was 18 cm away from the treatment plan center, the mean change was more than 3%, reaching 3.75%. When the rotational errors were 0.5° and the distance from the plan center was 18 cm (0.5°, 18 cm), the dose change of lymph node target was more than 5%, reaching 5.58%. At (1°, 15 cm), the V 100% change reached 8.96%, and at (1°, 18 cm), the V 100% change was 14.5%. The D 95% and V 100% parameters of the original lymph node target were changed by less than 1% after adding the external boundary of the original lymph node target and introducing corresponding rotational errors. Conclusions:In the long target area radiotherapy of cervical cancer, the variation of dosimetric parameters of lymph node target was increased with the increase of rotational errors and with the increase of distance from the plan center. It is recommended to increase the efferent boundary of lymph nodes in different positions to avoid underdose by d=2πr(α/360).
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Stigmasterol is a plant sterol with anti-apoptotic, anti-oxidative and anti-inflammatory effect through multiple mechanisms. In this study, we further assessed whether it exerts protective effect on human brain microvessel endothelial cells (HBMECs) against ischemia-reperfusion injury and explored the underlying mechanisms. HBMECs were used to establish an in vitro oxygen and glucose deprivation/reperfusion (OGD/R) model, while a middle cerebral artery occlusion (MCAO) model of rats were constructed. The interaction between stigmasterol and EPHA2 was detected by surface plasmon resonance (SPR) and cellular thermal shift assay (CETSA). The results showed that 10 μmol·L-1 stigmasterol significantly protected cell viability, alleviated the loss of tight junction proteins and attenuated the blood-brain barrier (BBB) damage induced by OGD/R in thein vitro model. Subsequent molecular docking showed that stigmasterol might interact with EPHA2 at multiple sites, including T692, a critical gatekeep residue of this receptor. Exogenous ephrin-A1 (an EPHA2 ligand) exacerbated OGD/R-induced EPHA2 phosphorylation at S897, facilitated ZO-1/claudin-5 loss, and promoted BBB leakage in vitro, which were significantly attenuated after stigmasterol treatment. The rat MCAO model confirmed these protective effects in vivo. In summary, these findings suggest that stigmasterol protects HBMECs against ischemia-reperfusion injury by maintaining cell viability, reducing the loss of tight junction proteins, and attenuating the BBB damage. These protective effects are at least meditated by its interaction with EPHA2 and inhibitory effect on EPHA2 phosphorylation.
Subject(s)
Humans , Animals , Rats , Stigmasterol , Phosphorylation , Endothelial Cells , Molecular Docking Simulation , Reperfusion Injury , Blood-Brain Barrier , Glucose , Microvessels , OxygenABSTRACT
Selective occlusion of tumor vasculature has proven to be an effective strategy for cancer therapy. Among vascular coagulation agents, the extracellular domain of coagulation-inducing protein tissue factor, truncated tissue factor (tTF), is the most widely used. Since the truncated protein exhibits no coagulation activity and is rapidly cleared in the circulation, free tTF cannot be used for cancer treatment on its own but must be combined with other moieties. We here developed a novel, tumor-specific tTF delivery system through coupling tTF with the DNA aptamer, AS1411, which selectively binds to nucleolin receptors overexpressing on the surface of tumor vascular endothelial cells and is specifically cytotoxic to target cells. Systemic administration of the tTF-AS1411 conjugates into tumor-bearing animals induced intravascular thrombosis solely in tumors, thus reducing tumor blood supply and inducing tumor necrosis without apparent side effects. This conjugate represents a uniquely attractive candidate for the clinical translation of vessel occlusion agent for cancer therapy.
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【Objective】 To explore the status of HBV infection and low viral load of HBV DNA in blood donor samples implicated in TMA triplex reactive but discriminatory test non-reactive samples. 【Methods】 A total of 51 996 samples were detected by Procleix Panther nucleic acid detection(NAT) system from January 2020 to March 2021, and 86 of them were TMA triplex reactive but discriminatory test non-reactive. HBV serological markers (HBsAg, anti-HBs, HBeAg, anti-HBe, anti-HBc) were detected by electrochemiluminescence. Single-donation(ID) NAT was conducted in some TMA triplex + /discriminatory test-samples using Roche NAT. 【Results】 Out of 86 TMA triplex + /discriminatory test-samples, anti-HBc were positive in 89.53% (77/86), anti-HBe positive in 27.90% (24/86) and anti-HBs positive in 65.12% (56/86). 15 donors carried anti-HBs, anti-HBe and anti-HBc, 34 both anti-HBs and anti-HBc, 1 both anti-HBs/anti-HBe, 8 both anti-HBe/anti-HBc, 6 solo anti-HBs, and 20 solo anti-HBc. The positive rate of HBV serological markers was 97.67% (84/86). HBV DNA in 5 out of the 10 samples was qualitatively detected by Roche ID NAT, and one of them presented HBV DNA < 20 IU/mL. 【Conclusion】 Most TMA triplex + /discriminatory test-samples were occult hepatitis B infection.
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OBJECTIVE@#To assess the performance of non-invasive prenatal testing (NIPT) for the detection of fetal chromosomal aneuploidies and its value for the prevention of birth defects.@*METHODS@#In total 28 033 pregnant women underwent NIPT test. The results were compared with that of amniotic fluid and cord blood chromosomal karyotyping analysis. A few cases were verified by array comparative genome hybridization (aCGH). All pregnant women and their fetuses were followed up until after birth.@*RESULTS@#NIPT has indicated a high risk for fetal chromosomal aneuploidies in 186 cases (0.66%), among which 101 (67.33%) were confirmed as 21, 18 and 13 trisomies by invasive prenatal diagnosis, which yielded a diagnostic rate of 86.52%, 50.00% and 19.05%, respectively. The diagnostic rates were 81.28%, 67.85%, 62.79% and 76.00% respectively for those ≥40, ≥35, 25 to 34, and <25. And the diagnostic rates were 65.91%, 60.78%, 71.79% and 80.00% for those over 35, with high risk by prenatal screening, critical risk by prenatal screening and ultrasound abnormality, respectively.@*CONCLUSION@#The NIPT is effective for screening common chromosomal aneuploidies and preventing births of neonates with trisomy 21, trisomy 18 and trisomy 13.
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OBJECTIVE@#To carry out prenatal diagnose for a fetus with ultrasonography abnormalities using multiple genetic techniques.@*METHODS@#Routine G-banding chromosomal analysis and single nucleotide polymorphism array (SNP-array) were applied in conjunction for the prenatal diagnosis of the fetus. The result was confirmed by fluorescence in situ hybridization (FISH).@*RESULTS@#SNP-array detected that the fetus has carried a hemizygous 5.1 Mb deletion at 22q13.31q13.33, which is associated with Phelan-McDermid syndrome, and a hemizygous 4.5 Mb deletion at 21q21.1q21.2. FISH analysis of the fetus and its parents suggested that both deletions were de novo in origin.@*CONCLUSION@#The hemizygous deletions on 21q21.1q21.2 and 22q13.31q13.33 probably underlay the abnormal phenotype of the fetus. Genetic analysis can provide crucial information for the prenatal diagnosis and genetic counseling.
Subject(s)
Female , Humans , Male , Pregnancy , Chromosome Deletion , Chromosome Disorders/genetics , Chromosomes, Human, Pair 21/genetics , Chromosomes, Human, Pair 22/genetics , Fetus , In Situ Hybridization, Fluorescence , Polymorphism, Single Nucleotide , Prenatal Diagnosis , Sequence Deletion/geneticsABSTRACT
OBJECTIVE：To management recheck and sorting weight for finished intravenous solutions in PIVAS ，to provide reference for reducing dispensing error and improving the safety and quality of intravenous infusion therapy. METHODS ：The weight analysis method was used to determine the weight of main drug and solvent in the finished intravenous solutions and infusion bottle . The weight maintenance information was added in PIVAS information management system ，and the marked weight of finished intravenous solutions was calculated for the verification of finished intravenous solutions. Average daily check quantity of finished product ，checking time ，average checking time of finished products per bag ，detection rate of dispensing error ，external error and timeliness of finished infusion batch were compared before （Mar.-May，2019，n＝83 006）and after （Jun.-Aug.，2019， n＝83 173）management. The effects of weighting recheck management were evaluated. RESULTS ：Compared with before the implementation of weighting recheck management ，there were no significant differences in the average daily check quantity of finished products ，the detection rate of dispensing errors caused by wrong labeling of liquid ，or the times of delayed drug delivery batches after the implementation of weighting recheck management （P＞0.05）. The checking time of finished products ，average checking time of finished products per bag ，the number of bags added or subtracted error ，detection rate of dose dispensing error ， total error detection rate prolonged or increased significantly （P＜0.05），and the number of external error was decreased significantly（P＜0.05）. CONCLUSIONS ：The weighting recheck management improves the accuracy and safety of PIVAS preparation，effectively improves error detection rate ，reduces the occurrence of external error ，but prolongs the time of checking ， which are urgent to be solved by information and automation means.
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OBJECTIVE@#To explore the genetic basis for a patient with syndromic hearing loss.@*METHODS@#Genomic DNA of the patient was extracted, for which 127 deafness-related genes were enriched with a chip. Following next generation sequencing, pathogenic loci in exonic regions were analyzed through comparison against the databases. Genotype of her fetus for the suspected site was determined by testing the amniotic fluid sample. qPCR method was applied to verify the deletion of a large fragment.@*RESULTS@#The proband was diagnosed with Waardenburg syndrome type 2, and had harbored a novel heterozygous deletion of the exons 3 and 4 of the SOX10 gene. Her fetus was found to carry the same deletion and presented with blue eyes and deafness after birth.@*CONCLUSION@#Waardenburg syndrome type 2 due to SOX10 gene deletion may feature autosomal dominant inheritance with incomplete penetrance. The deletion of exons 3 and 4 of the SOX10 gene probably underlies the disease in this family.
Subject(s)
Female , Humans , Pregnancy , Eye Color , Hearing Loss , Mutation , Pedigree , Prenatal Diagnosis , SOXE Transcription Factors , Genetics , Waardenburg SyndromeABSTRACT
OBJECTIVE@#To explore the molecular basis for an individual with postnatal deafness and provide genetic counseling for her family.@*METHODS@#Following extraction of genomic DNA from peripheral blood samples, 127 genes associated with deafness were subjected to targeted capturing and next generation sequencing. Suspected mutation was verified by Sanger sequencing.@*RESULTS@#The proband was found to carry a homozygous c.1893C>A mutation in the TECTA gene, which is located in the tectorial membrane of inner ear and may cause premature termination of translation of TECTA protein. In addition, two heterozygous mutations, c.13010C>T and c.12790G>A, were found in the USH2A gene. Whilst the former is likely to be pathogenic, the latter has unknown clinical significance. Further analysis suggested that all three mutations have derived from the parents of the proband.@*CONCLUSION@#The homozygous c.1893C>A mutation of the TECTA gene probably underlies the proband's hearing loss which conformed to an autosomal recessive inheritance.
Subject(s)
Female , Humans , Deafness , Extracellular Matrix Proteins , Genetics , GPI-Linked Proteins , Genetics , High-Throughput Nucleotide Sequencing , Homozygote , Mutation , PedigreeABSTRACT
Objective To investigate the efficacy and safety of CT portograph combined with endoscopic ultrasonography for the pricision treatment of esophagogastric varices in patients with cirrhosis. Methods A total of 130 inpatients with cirrhosis complicated with esophagogastric variceal bleeding who received endoscopic treatment from January 2013 to January 2015 were selected. Using prospective randomized controlled design, the patients were divided into two groups, the experimental group and the control group, with 65 cases in each group. The number and degree of esophagogastric varices were assessed by CT portography in the experimental group. Then endoscopic ultrasonography was used to assess the paraesophageal vein and perforator vein before endoscopic treatment. The range and degree of esophagogastric varices were observed and the lesions were treated by endoscopy in the control group. Results A total of 62 patients completed the study in the experimental group, and 63 in the control group. The number of treatment was significantly lower in the experimental group than that in the control group(3. 00±0. 76 VS 5. 63±0. 92, P=0. 000) . The disappearance time of varices was significantly shorter in the experimental group than that in the control group(7. 25±1. 16 months VS 8. 88±1. 64 months, P=0. 039). The variceal recurrence rate of the experimental group was significantly lower than that of the control group [ 1. 6％ ( 1/62 ) VS 12. 7％( 8/63) , P=0. 040] . The incidence of pleural effusion was significantly lower in the experimental group than that in the control group [ 0 ( 0/62 ) VS 9. 5％ ( 6/63 ) , P= 0. 040 ] . The total complication rate was significantly lower in the experimental group than that in the control group [ 27. 4％ ( 17/62 ) VS 58. 7％(37/63), P=0. 003]. Conclusion CT portography combined with endoscopic ultrasonography is safe and effective for esophageal gastric varices in patients with cirrhosis.
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Objective To investigate the expression of C1q/TNF-related protein-1(CTRP1)in patients with acute ischemic stroke and its predictive value for the severity of neurological deficits. Methods A total of 452 patients with newly diagnosed ischemic stroke(IS)from February 2014 to February 2017 in our hospital were selected as the study subjects,and 403 healthy subjects were selected as control group in the physical examination center. The National Institutes of Health Stroke Scale(NIHSS)was used to evaluate the neurological status of pa-tients at admission and at 6 months after discharge. The expression of CTRP1 in plasma was detected by enzyme-linked immunosorbent assay(ELISA). Multiple linear regression was used to analyze the relationship between neu-rological deficit and CTRP1. Results The expression level the CTRP1in the healthy control group[(119.53 ± 17.62)ng/mL],unexplained causes IS[(145.81 ± 18.96)ng/mL],large atherosclerotic IS[(153.17 ± 19.21) ng/mL],cardiac IS[(156.56 ± 20.96)ng/mL]and small artery occlusion IS[(169.23 ± 22.34)ng/mL]in-creased gradually with statistically significant difference(P < 0.05). The level of CTRP1in the healthy control group[(119.53 ± 17.62)ng/mL],mild neurologic impairment group[(156.29 ± 19.86)ng/mL],moderate neuro-logic impairment group[(168.74 ± 18.53)ng/mL]and severe neurologic impairment group[(175.96 ± 19.15)ng/mL]increased gradually with statistically significant difference (P < 0.05). Multiple linear regression analysis showed that CTRP1,age,diabetes,Hs-CRP and LDL-C were independent factors of neurological deficits at 6 months after discharge in IS patients. Conclusion CTRP1 can effectively predict the severity of neurological defi-cits in patients with acute IS.
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Objective To explore the relationship of miR-34b/c gene polymorphisms and event-related potential P300 in major depressive disorder.Methods The design of case-control research was used,and 302 major depressive patients and 327 normal controls who were in age and gender matched with patients were measured auditory event-related potential P300 on the day when two groups were collected.Polymerase chain reaction(PCR) and direct DNA sequencing technology were used to detect miR-34b/c gene polymorphisms.Results (1) In the single locus analysis,the rs4938723,rs2187473 and rs28757623 had no significant difference in allele frequency and genotype frequency between depressive patients and controls (P＞ 0.05);Haplotype C-C-C in rs4938723-rs2187473-rs28757623 was statistically significant different in depressive patients and controls(x2 =3.96,P=0.046).The odds ratio (OR) was 1.322(95％CI=1.004-1.740).(2) Compared with normal controls,P300 of the patients with major depressive disorder had longer latency of N2 (P＜0.01),P3a (P＜0.01) and P3b (P＜0.05).(3) The P300 targets of major depressive disorder had statistical difference(P＜0.05)in rs28757623 between the individuals with the G allele genotype and C/C genotype.The latency of N1 ((90.80±28.62) ms),P3a((281.79±37.89) ms),P3b((323.87±41.17) ms) were longer thanC/C genotype ((77.40 ± 20.96) ms,(253.00 ± 34.36) ms,(297.30± 23.70) ms).Conclusion Rs4938723-rs2187473-rs28757623 haplotype CCC in miR-34b/c gene might be risk factor for the onset of depression,miR-34b/c gene rs28757623 polymorphism is associated with the principal component of P300 latency in patients with Major depressive disorder which suggest that genetic factors may have a certain impact on cognitive function in the patients with major depressive disorder.
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Objective To investigate the relevance of brain-derived neurotrophic factor (BDNF) gene polymorphisms and the effects of citalopram antidepressant.Methods The subjects comprised 280 patients according to the diagnostic and statistical manual of mental disorders in the fourth edition (DSM-Ⅳ) criterion for major depressive disorder (MDD).Severity of depression were assessed by 17 Hamilton depression scale (HAMD) at the baseline and 1,2,4,6 weekend.Citalopram were selected for treatment.Polymerase chain reaction (PCR) and DNA sequencing analysis were used to detect the genotype of SNPs rs7124442 and rs6265 of BDNF.SPSS17.0 software was used for statistical analysis.Results (1) There were 280 patients (242 responders and 38 nonresponders;175 remissioners and 105 nonremissioners) accomplished 6 weeks of treatment.No association was found between the polymorphisms and antidepressant drug response or remission (the reduction rate of HAMD score ≥ 50％ was defined as response,conversely,defined as nonresponse;HAMD score more than 7 was named as remission,in contrast,named as nonremission) (P＞0.05).(2) Repeated measures analysis of variance was adopted to compare the change of HAMD scores among the genotypes at different time points.There was a significant difference in rs6265 polymorphism between the GA +AA genotype (the scores of HAMD at 2,4,6 weeks were(9.98±4.97),(8.02±4.50),(5.83±3.49) respectively) and the GG genotype groups (the scores of HAMD at 2,4,6 weeks were(11.90±6.55),(9.34± 4.71),(7.07±4.28) respectively) (P=0.031).Conclusion The results suggest that BDNF rs6265 polymorphisms in part determine the antidepressant response to citalopram.
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Objective To investigate the difference of Wechsler's cognitive test and its influencing factors in first-episode depression patients with and without sleep disorder.Methods 156 patients with de-pression were divided into two groups according to their sleep conditions,including sleep disorder group(n=77)and non-sleep disorder group(n=79).Wechsler Intelligence Scale(WAIS)and Wechsler Memory Scale(WMS)were used to assess the cognitive function,while Hamilton Depression Scale(HAMD-17) were used to assess depressive symptoms.Results (1)Sleep disorders group had lower scores on verbal IQ (95.51±16.45),performance IQ(90.94±13.87),FIQ scores(92.48±15.49)than those in the non-sleep disorder group((105.59±15.20),(96.19±13.62),(101.20±14.70)respectively),the differences were statistically significant(P<0.05).Sleep disorder group had lower scores in immediate memory(10.47 ± 3.88),short-term memory(49.87±14.35)and memory quotient(87.90±18.25)than those in the non-sleep disorder group((11.86±3.47),(56.52±13.03),(97.27±18.76)respectively),the differences were statisti-cally significant(all P<0.05).(2)Multivariate linear regression analysis showed that education and age ex-plained 24% of variance in verbal IQ(F=21.258,P<0.01).Education,sleep disorder factors explained 12.9% of variation in performance IQ(F=9.825,P<0.01).Education,sleep disorder factors explained 22.3% of variance in total IQ(F=22.847,P<0.01).Education,age,sleep disorder factors explained 28.4%of variation in short-term memory(F=23.850,P<0.01).Education and age explained 20.4% of variation in immediate memory(F=18.10,P<0.01).Education and sleep disorder factors explained 21.9% of variation in memory quotient(F=26.162,P<0.01).Conclusion The intelligence and memory impairment in first-epi-sode depression patients with sleep disorders is more serious,and the education,sleep disorder and age are the most important factors.
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<p><b>OBJECTIVE</b>To determine the origin of a supernumerary small marker chromosome found in a fetus using prenatal BACs-on-Beads (BoBs) and single nucleotide polymorphism array (SNP-array) assays.</p><p><b>METHODS</b>The fetal sample was subjected to chromosomal karyotyping and BoBs analysis, and the results were validated with genome-wide scanning using a SNP microarray.</p><p><b>RESULTS</b>The fetus was found to have a 47,XX,+mar karyotype. BoBs analysis indicated that there was an amplification between 18p11.32 and 18p11.21, which was verified by the SNP-array assay as a 18.3 Mb duplication occurring at 18p11.32q11.1.</p><p><b>CONCLUSION</b>The karyotype of the fetus was determined as 47,XX,+der18(18p11.32?18q11.1::18q11.1?18p11.32). The duplication has involved important genes including SMCHD1, LPIN2 and TGIF1, which may result in severe malformations in the fetus.</p>
Subject(s)
Adult , Female , Humans , Pregnancy , Aneuploidy , Chromosomes, Artificial, Bacterial , Genetics , Chromosomes, Human, Pair 18 , Genetics , Karyotyping , Microarray Analysis , Methods , Polymorphism, Single Nucleotide , Prenatal Diagnosis , MethodsABSTRACT
Objective To explore the relationship between neuroticism and memory in patients with first-episode depression and the mediating effect of depression in this relationship.Methods Hamilton de pression rating scale (HAMD),Eysenck personality questionnaire (EPQ),repeatable battery for the assess ment of neuropsychological status (RBANS) were used to evaluate 278 patients with first-episode depression.Results (1) Neuroticism was negatively correlated with immediate memory(r=-0.26,P＜0.01),delayed memory (r=-0.30,P＜0.01),and positively correlated with depressive symptom (r =0.30,P＜ 0.01).Depres-sive symptom was negatively correlated with immediate memory (r=-0.55,P＜0.01),delayed memory (r=-0.44,P＜0.01).(2) The effect of neuroticism on immediate memory and delayed memory was partially mediated by depressive symptom (β=-0.521,-0.388,P＜0.01).The ratio of mediating effect to total effect in immediate memory was 0.597,and the ratio of mediating effect to total effect in delayed memory was 0.383.Conclusion Memory can be affected by neuroticism through the indirect effect of depression.
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<p><b>OBJECTIVE</b>To explore the genetic causes for a child with multiple congenital malformations and epilepsy through analysis of copy number variations, and to correlate the genotype with the phenotype.</p><p><b>METHODS</b>G-banding karyotyping was performed on the child and her parents. Single nucleotide polymorphisms array (SNP-array) was used to map the exact chromosomal breakpoints in the proband. The result was validated with fluorescence in situ hybridization (FISH).</p><p><b>RESULTS</b>G banding analysis suggested that the proband had a karyotype of 46,XX,del(4)(p15), while both of his parents had a normal karyotype. SNP-array has identified a hemizygous deletion of 13.3 Mb on chromosome 4p16.3p15.33, which has been implicated in Wolf-Hirschhorn syndrome. FISH assay has confirmed the de novo origin of the deletion, with the karyotype and clinical phenotype of both parents taken into consideration.</p><p><b>CONCLUSION</b>A case of Wolf-Hirschhorn syndrome has been diagnosed by clinical manifestation and karyotyping analysis. Compared with conventional karyotyping analysis, SNP-array has greater resolution and accuracy, and can provide useful information for genetic counseling.</p>