Sorl1 knockout inhibits expression of brain-derived neurotrophic factor:involvement in the development of late-onset Alzheimer's disease

Sortilin-related receptor 1(SORL1)is a critical gene associated with late-onset Alzheimer’s disease.SORL1 contributes to the development and progression of this neurodegenerative condition by affecting the transport and metabolism of intracellularβ-amyloid precursor protein.To better understand the underlying mechanisms of SORL1 in the pathogenesis of late-onset Alzheimer s disease,in this study,we established a mouse model of SorI1 gene knockout using cluste red regularly inters paced short palindro mic repeats-associated protein 9 technology.We found that Sorl1-knocko ut mice displayed deficits in learning and memory.Furthermore,the expression of brain-derived neurotrophic factor was significantly downregulated in the hippocampus and co rtex,and amyloidβ-protein deposits were observed in the brains of 5orl1-knockout mice.In vitro,hippocampal neuronal cell synapses from homozygous Sorl1-knockout mice were impaired.The expression of synaptic proteins,including Drebrin and NR2B,was significantly reduced,and also their colocalization.Additionally,by knocking out the Sorl1 gene in N2a cells,we found that expression of the N-methyl-D-aspartate receptor,NR2B,and cyclic adenosine monophosphate-response element binding protein was also inhibited.These findings suggest that SORL1 participates in the pathogenesis of late-onset Alzheimer s disease by regulating the N-methyl-D-aspartate receptor NR2B/cyclic adenosine monophosphate-response element binding protein signaling axis.

Salivary C-reactive protein and mean platelet volume as possible diagnostic markers for late-onset neonatal pneumonia

BACKGROUND Neonatal sepsis,a formidable threat to newborns,is a leading cause of neonatal mortality,with late-onset sepsis manifesting after 72 hours post-birth being particularly concerning.Pneumonia,a prevalent sepsis presentation,poses a significant risk,especially during the neonatal phase when lung defenses are compromised.Accurate diagnosis of pneumonia is imperative for timely and effective interventions.Saliva,a minimally invasive diagnostic medium,holds great promise for evaluating infections,especially in infants.AIM To investigate the potential of serum C-reactive protein(CRP),salivary CRP(sCRP),and mean platelet volume(MPV)as diagnostic markers for late-onset neonatal pneumonia(LONP).METHODS Eighty full-term neonates were systematically examined,considering anthropometric measurements,clinical manifestations,radiology findings,and essential biomarkers,including serum CRP,sCRP,and MPV.RESULTS The study reveals noteworthy distinctions in serum CRP levels,MPV,and the serum CRP/MPV ratio between neonates with LONP and healthy controls.MPV exhibited a robust discriminatory ability[area under the curve(AUC)=0.87]with high sensitivity and specificity at a cutoff value of>8.8.Correlations between serum CRP,sCRP,and MPV were also identified.Notably,sCRP demonstrated excellent predictive value for serum CRP levels(AUC=0.89),underscoring its potential as a diagnostic tool.CONCLUSION This study underscores the diagnostic promise of salivary and serum biomarkers,specifically MPV and CRP,in identifying and predicting LONP among neonates.These findings advocate for further research to validate their clinical utility in larger neonatal cohorts.

Late-onset Leigh syndrome without delayed development in China:A case report

BACKGROUND Leigh syndrome(LS)is one of the most common mitochondrial diseases in infants and children.LS often manifests as early-onset with delayed phenotypic development.However,late-onset LS with normal development and white matter lesions in the brain is rarely reported,thereby highlighting the phenotypic variability of LS expression.CASE SUMMARY We report a 12-year-old boy who presented with an unusual late-onset and fulminant form of LS that is maternally inherited without developmental delay.The patient was admitted to the hospital with symptoms of ptosis and somnolence,and died within 2 mo.Analysis of peripheral blood leukocytes showed a homoplasmic m.9176T>C mutation in the patient.Magnetic resonance imaging also revealed lesions in bilateral white matter as well as symmetrical lesions in the basal ganglia and brain stem.The patient was diagnosed with LS.The patient was treated with vitamin C,vitamin D,and adenosine-triphosphate.The patient died within 2 mo of hospital admission.CONCLUSION LS can present in both infants and older children with different phenotypes.

Molecular Genetic Analysis of Autosomal Dominant Late-Onset Cataract in a Chinese Family

Congenital cataract is a highly heterogeneous disorder at both the genetic and the clinical-phenotypic levels.A unique cataract was observed in a 4-generation Chinese family,which was characterized by autosomal dominant inheritance and late-onset.Mutations in the 13 known genes (CRYAA,CRYAB,CRYBB1,CRYBB2,CRYGC,CRYBA1/A3,CRYGD,Connexin50,Connexin46,intrinsic membrane protein LIM2,cytoskeletal protein BFSP2,the major intrinsic protein-MIP and the heat shock factor HSF4) have previously been demonstrated to be the frequent reason for isolated congenital cataracts,but the exact molecular basis and underlying mechanisms of congenital cataract still remain unclear.This study was designed to find whether these 13 genes developed any mutation in the family members and to identify the disease-causing gene.Polymerase chain reaction (PCR) and direct DNA sequence analysis were carried out to detect the 13 genes.The results showed that no mutation causing amino acid alternations was found in these potential candidate genes among all patients in the family,and only several single-nucleotide polymorphisms (SNPs) were identified.A transitional mutation in the fourth intron of CRYBB2 and some silent mutations in the first exon of BFSP2 and CRYGD were found in the cataract family,but further study showed that these mutations could also be found in normal controls.It was concluded that some unidentified genes may underlie the occurrence of late-onset cataract in this family.A genome-wide screening will be carried out in the next study.

Late-onset multiple acyl-CoA dehydrogenase deficiency with cardiac syncope: A case report

BACKGROUND Multiple acyl-CoA dehydrogenase deficiency(MADD)is an uncommon autosomal recessive disorder of mitochondrial fatty acid beta-oxidation.Syncope is a transient loss of consciousness due to acute global cerebral hypoperfusion.Late-onset MADD with syncope has not been reported previously.CASE SUMMARY We report a 17-year-old girl with exercise intolerance and muscle weakness.She felt palpitation and shortness of breath after short bouts of exercise.She also suffered from a transient loss of consciousness many times.Muscle biopsy showed lipid storage.Genetic mutation analysis indicated a compound heterozygous mutation c.250G>A(p.A84T)and c.872T>G(p.V291G)in the ETFDH gene.The results of Holter electrocardiogram monitoring showed supraventricular tachycardia when the patient experienced a loss of consciousness.After treatment with riboflavin and carnitine,muscle weakness and palpitation symptoms improved rapidly.No loss of consciousness occurred,and the Holter electrocardiogram monitoring was normal.CONCLUSION Late-onset MADD with supraventricular tachycardia can cause cardiac syncope.Carnitine and riboflavin supplement were beneficial for treating the late-onset MADD with cardiac syncope.Attention should be paid to the prevention of cardiac syncope when diagnosing late-onset MADD.

Plasma D-dimer level in early and late-onset neonatal sepsis

BACKGROUND Neonatal sepsis is a life-threatening disease.Early diagnosis is essential,but no single marker of infection has been identified.Sepsis activates a coagulation cascade with simultaneous production of the D-dimers due to lysis of fibrin.Ddimer test reflects the activation of the coagulation system.AIM To assess the D-dimer plasma level,elaborating its clinicopathological value in neonates with early-onset and late-onset neonatal sepsis.METHODS The study was a prospective cross-sectional study that included ninety neonates;divided into three groups:Group I:Early-onset sepsis(EOS);Group II:Late-onset sepsis(LOS);and GroupⅢ:Control group.We diagnosed neonatal sepsis according to our protocol.C-reactive protein(CRP)and D-dimer assays were compared between EOS and LOS and correlated to the causative microbiological agents.RESULTS D-dimer was significantly higher in septic groups with a considerably higher number of cases with positive D-dimer.Neonates with LOS had substantially higher levels of D-dimer than EOS,with no significant differences in CRP.Neonates with LOS had a significantly longer hospitalization duration and higher gram-negative bacteriemia and mortality rates than EOS(P<0.01).Gramnegative bacteria have the highest D-dimer levels(Acinetobacter,Klebsiella,and Pseudomonas)and CRP(Serratia,Klebsiella,and Pseudomonas);while gram-positive sepsis was associated with relatively lower levels.D-dimer had a significant negative correlation with hemoglobin level and platelet count;and a significant positive correlation with CRP,hospitalization duration,and mortality rates.The best-suggested cut-off point for D-dimer in neonatal sepsis was 0.75 mg/L,giving a sensitivity of 72.7%and specificity of 86.7%.The D-dimer assay has specificity and sensitivity comparable to CRP in the current study.CONCLUSION The current study revealed a significant diagnostic value for D-dimer in neonatal sepsis.D-dimer can be used as an adjunct to other sepsis markers to increase the sensitivity and specificity of diagnosing neonatal sepsis.

Studying the relationship between clinical features and mental health among late-onset myasthenia gravis patients

BACKGROUND Mental disorders are common comorbidities among individuals with neurological diseases, and the prevalence of depressive and anxiety-related symptoms in newly referred patients at neurology outpatient clinics is high. There have been few studies on the mental health of patients with late-onset myasthenia gravis(MG).AIM To examine the relationship between clinical features and the mental health symptoms within late-onset MG patients.METHODS A total of 105 patients diagnosed with MG were recruited consecutively from a neuromuscular outpatient clinic between December 2020 and February 2021. Patients were classified into two groups: early-onset MG(age at onset < 50 years, n = 63) and late-onset MG(age at onset ≥ 50 years, n = 42). Social demographic data and information about marital status, education level, clinical symptoms, serum antibody levels, and therapies used were collected for all participants. Participants were also evaluated using the Myasthenia Gravis Composite scale, the Myasthenia Gravis Activities of Daily Living scale, the Myasthenia Gravis Quality of Life 15(MG-QOL-15) questionnaire, the 17-item version of the Hamilton Depression Rating Scale(HAM-D) and the Hamilton Anxiety Rating Scale(HAM-A). The relationship between clinical features and mental health in late-onset MG patients was examined using multivariate logistic regression analyses.RESULTS Late-onset MG patients were more prone to dyspnea, had higher levels of serum anti-acetylcholine receptor antibodies, and higher total scores on the MG-QOL-15, HAM-D, and HAM-A questionnaires, than early-onset MG patients had(P < 0.05). Among those with late-onset MG, female patients had higher total HAM-D and HAM-A scores than male patients had(P < 0.05). High scores on the QOL-15 questionnaire were associated with higher incidences of anxiety and depression, and the association was found to be independent after adjusting for confounding risk factors. In the late-onset subgroup, the areas under the receiver operating characteristic curves for the MG-QOL-15 score-based diagnostic accuracy for anxiety and depression state were 0.816(P = 0.001) and 0.983(P < 0.001), respectively.CONCLUSION Higher MG-QOL-15 scores were a risk factor for anxiety and depression in late-onset MG, and women with late-onset MG were more likely to have anxiety and depression than men were.

Elderly patients with very late-onset schizophrenia-like psychosis and early-onset schizophrenia: Cross-sectional and retrospective clinical findings

Objectives: The aim of this study was to characterize the symptoms at onset/past and current symptoms of patients with Very Late-Onset Schizophrenia-Like Psychosis (VLOSLP;first onset of psychotic symptoms at/or after 60 years old) with those of elderly patients diagnosed with schizophrenia before the age of 40 years old (Early-Onset Schizophrenia—EOS) in order to validate the clinical nosology proposed by the International Late-Onset Schizophrenia Group. Methods: This is a between-patient comparison study with retrospective and current data taken from an historical cohort that was conducted from May/2005 to August/2008. Seventeen VLOSLP and 17 EOS were included. Schizophrenia and schizophrenia-like psychotic disorders were initially diagnosed by board-certified psychiatrists with the Diagnostic and Statistical Manual Criteria at use at onset of the disorders. Patients’ symptoms were assessed with the Scale for the Assessment of Positive Symptoms (SAPS) and the Scale for the Assessment of Negative Symptoms (SANS). The general scores on the SAPS/SANS were the primary outcomes. Results: Both groups had hallucinations and delusions at onset of the disease, but the following symptoms were more present and severe in EOS than in VLOSLP: hallucinations (p = 0.001);assiduity loss (p p = 0.001), reference (p p = 0.001) delusions. VLOSLP had mostly persecutory delusions. At current evaluation (follow-up of cohort), most patients in the two groups presented residual symptoms of anhedonia and apathy, but EOS, presented more symptoms of friendship poverty (d = 1.42, large effect size) than VLOSLP. The neuroimaging studies (when available) at follow-up demonstrated greater vascular cerebral lesions/vulnerability in VLOSLP than in EOS patients. Conclusion: This study showed that both VLOSLP and EOS had positive and negative symptoms in the past/at onset of the disease, but they were more severe in EOS than in VLOSLP. However, the positive symptoms of both groups at follow-up of the cohort (current evaluation) responded relatively well to neuroleptics.

A Rare Cause of Late-Onset Epilepsy: Linear Scleroderma en Coup de Sabre

Late-Onset Epilepsy (LOE), with onset in adult life, is often attributed to cerebrovascular disease and intracranial tumor. Herein we present a LOE patient with history of Linear Scleroderma en Coup de Sabre (LScs) and abnormal cranial MRI signs. Curiously, his band-like skin lesion, presenting on the forehead, was in line with the surface projection of the intracranial focus shown in MRI. This gave a clue of the link between the skin lesion and the intracranial focus and the epilepsy. To sum up, it exposed a rare cause of LOE. Moreover, it underlined the significance of recognizing the cause to be associated with a substantially increased risk of developing epilepsy.

Survey for late-onset hypogonadism among old anti middle-aged males in Shanghai communities

这研究寻求了在上海社区在老、中年的男性调查迟了发作的性腺机能减退(LOH ) ，用症状 20 评估系统和性别荷尔蒙层次的大小。40-70 年的男性的 1000 个案例被调查。在使男性( ADAM )变老的变老的男症状( AMS )规模和雄激素缺乏问询表在调查的开始被使用，由性别的测量列在后面荷尔蒙相关的因素(全部的睾丸激素( TT )，免费睾丸激素(英尺)，性别荷尔蒙绑定血球素( SHBG )和睾丸激素( Bio-T )的 bioavailability )。有 977 张有效问询表。AMS 和 ADAM 显示出的 LOH 积极的率是 59.88 &#x00025；并且 84.65 &#x00025；分别地；价值与病人的年龄增加了。与性别荷尔蒙大小有关有 946 结果，它显示出下列结果：TT 不与老化有关(P&#x0003e； 0.05 ) ；SHBG 的层次与年龄增加了；并且英尺和 Bio-T 与年龄减少了。在在 LOH 积极、 LOH 否定的病人之间的英尺有重要差别，作为由 ADAM 出现。在摘要，当英尺和 Bio-T 与老化减少了时， TT 层次不与老化有关，尽管 SHBG 确实增加了。临床上， LOH 的诊断不能基于浆液 TT 水平。

How to recognize late-onset hypogonadism in men wit sexual dysfunction

迟了发作的性腺机能减退(LOH ) 在 100 个人与约 1 的流行被认为男性腺机能减退的最普通的形式。LOH 的诊断应该与不含糊地低的浆液睾丸激素(T) 层次在征兆的人被做。然而，因为它被与生理的变老做微分诊断的 nonspecific 症状描绘，它的临床的演讲经常暗中为害、困难认出有问题。性机能障碍是为医药会诊和与低 T 联系的最特定的症状的最重要的决定因素。我们因此分析了出席了我们的单位的 1734 个题目的一个连续系列因为调查在低 T (不同阀值) 之间的协会的性机能障碍，性参数，病历数据(推迟的发身，垂体疾病或 cryptorchidism ) 和他们的物理考试结果。新陈代谢的参数，特别地腰圆周，在检测低 T 显示最大的精确性。我们发现仅仅几症状和符号的协会能显著地提起低 T 的临床的怀疑。结构化的库存，一起聚类性腺机能减退的症状和症状，能帮助临床医生怀疑雄激素缺乏。特别地，组织了会见，例如 ANDROTEST，被表明了有更大的精确性什么时候在检测低 T 与自我相比报导了问询表，铺平。

A non-invasive,rapid method to genotype late-onset Alzheimer's disease-related apolipoprotein E gene polymorphisms

The apolipoprotein E geneε4 allele is considered a negative factor for neural regeneration in late-onset Alzheimer’s disease cases.The aim of this study was to establish a non-invasive,rapid method to genotype apolipoprotein E gene polymorphisms.Genomic DNA from mouth swab specimens was extracted using magnetic nanoparticles,and genotyping was performed by real-time PCR using TaqMan-BHQ probes.Genotyping accuracy was validated by DNA sequencing.Our results demonstrate 100%correlation to DNA sequencing,indicating reliability of our protocol.Thus,the method we have developed for apolipoprotein E genotyping is accurate and reliable,and also suitable for genotyping large samples,which may help determine the role of the apolipoprotein Eε4 allele in neural regeneration in late-onset Alzheimer’s disease cases.

SLC26A4 gene polymorphism and late-onset Alzheimer’s disease in a Han Chinese population from Qingdao,China

In a recent genome-wide association study,the SLC26A4 gene rs2072064 polymorphism was found to be associated with late-onset Alzheimer's disease in Caucasians.Here,we investigated this association in a large Northern Han Chinese cohort consisting of 599 sporadic late-onset Alzheimer's disease patients and 598 healthy controls matched for sex and age in a Northern Han Chinese population from Qingdao,China.Genotyping by the polymerase chain reaction-ligase detection reaction revealed that there were significant differences in the genotype (P=0.017) and allele (P=0.007) frequencies of the rs2072064 polymorphism between late-onset Alzheimer's disease patients and controls.The A allele of this polymorphism was significantly associated with a reduced risk of late-onset Alzheimer's disease (odds ratio (OR)=0.792,95% confidence interval (CI)=0.670-0.937,P=0.007).When the data were stratified by the apolipoprotein E ε4 status,there was a significant difference only among apolipoprotein E ε4 non-carriers (genotypic P=0.001,allelic P=0.001).Furthermore,the association between rs2072064 and late-onset Alzheimer's disease remained significant by logistic regression analysis after adjustment for age,gender,and the apolipoprotein E ε4 carrier status (dominant model:OR=0.787,95% CI=0.619-1.000,P=0.050;recessive model:OR=0.655,95% CI=0.448-0.959,P=0.030;additive model:OR=0.792,95% CI=0.661-0.950,P=0.012).These findings suggest that SLC26A4 is a susceptibility gene for late-onset Alzheimer's disease in a Northern Han Chinese population from the Qingdao area.

Study of Tripterygium Associated with Nicotinamide in Treating Late-onset Autoimmune Diabetes Mellitus in Adults

Objective: To explore the effect of Tripterygium polyglycoside (TP) associated with nicotinamide on the islet cell function, immune parameters and lipoperoxide (LPO) in adult patients with late-onset autoimmune diabetes mellitus (LADA) Methods: Thirty-six cases of LADA were randomly divided into three groups: TP group (n= 12), treated with TP plus orally taken metformin; combined treatment group (n =12), treated with TP combined with nicotinamide and metformin, and control group (n = 12) treated with metformin alone. They were followed-up for 18 months. Results: (1) Compared with the control group after 9months of treatment, postprandial plasma glucose and LPO in combined treatment group were decreased (P ＜0.05), and the postprandial C-peptide was higher (P＜0.05). At the 18th month, the value of postprandial C-peptide in the TP and combined treatment group was higher than that in the control group. The slL-2R level of both TP and combined treatment groups were lowered (P＜0.01); (2) Islet cell antibody (ICA) positive of 5 cases in the TP group and 6 cases in the combined treatment group got converted to the negative respectively, while only one in the control group at the time (P＜0.05) ; (3) The level of LPO in the combined treatment group was significantly lower than that in the TP group at the 18th month of treatment (P＜0.05).Conclusion: TP combined with nicotinamide played a role in immunity regulation, decreasing the titer of islet cell antibody and slL-2R, which also reduced the production of LPO and had a tendency to improve islet cell function in early LADA patients.

Predictive factors for efficacy of testosterone replacement therapy for late-onset hypogonadism in Japanese men:a preliminary report

Although testosterone replacement therapy(TRT)is the first-choice method used worldwide for late-onset hypogonadism(LOH),clinical benefits are not seen in all cases.This study was conducted to determine the predictors of TRT efficacy for LOH.Fifty-six patients who visited our Men’s Health Clinic(Kawanishi City Medical Center,Kawanishi and Hyogo Medical University,Nishinomiya,Hyogo,Japan)between November 2003 and June 2021 with data available before and after TRT were enrolled.They were divided into responders(Group 1;n=45,accounting for 80.4%)and nonresponders(Group 2;n=11,accounting for 19.6%)based on the clinical response to TRT,including patient satisfaction.Factors noted before TRT included age,body mass index,aging males’symptoms score,sexual health inventory for men,luteinizing hormone,follicular-stimulating hormone,testosterone,free testosterone,prolactin(PRL),estradiol(E2),and testosterone/estradiol(T/E2)ratio in serum.For statistical analysis,a multivariable logistic regression model was used.Univariate analysis revealed PRL(odds ratio TORI:0.9624;95%confidence interval[Cl]:0.9316-0.9943,P<0.05),E2(OR:0.8692;95%Cl:0.7745-0.9754,P<0.05),and T/E2 ratio(OR:1.1312;95%Cl:1.0106-1.2661,P<0.05)to be predictive factors.Multivariate analyses showed that T/E2 ratio was an independent predictive factor(OR:1.1593;95%Cl:1.0438-1.2875,P<0.01).The present results suggest that a low value for T/E2 ratio may predict a reduced response to TRT.The T/E2 ratio threshold to predict nonresponders based on receiver-operating characteristics(ROC)curve analysis was shown to be 17.3.Although additional studies with larger number of patients are necessary,we propose the determination of serum E2 level and testosterone level prior to performing TRT.

Identification of lncRNA-miRNA-mRNA networks in late-onset pre-eclampsia

Objective:Long non-coding RNAs(lncRNAs)are implicated in multiple pathophysiological processes in placenta-related disorders;however,their expression and function in late-onset pre-eclampsia(LOPE)remain unclear.This study aimed to investigate the expression of lncRNAs in LOPE,construct a competing endogenous RNA(ceRNA)network,and identify the pathways associated with LOPE pathogenesis.Methods:We performed lncRNA and mRNAs microarray profiling to identify the differential expression profiles of lncRNAs and mRNAs in LOPE compared to those in normal pregnancy.Quantitative reverse transcription polymerase chain reaction(qRT-PCR)was performed to validate differentially expressed genes.Subsequently,we generated an interaction network between lncRNAs,(micro-RNAs)miRNAs,and mRNAs based on the Pearson’s correlation coefficient between lncRNAs and mRNAs.Gene ontology(GO)and Kyoto Encyclopedia of Genes and Genomes(KEGG)enrichment analyses were performed to understand the functional significance of differentially expressed lncRNAs(DElncRNAs)in LOPE.Results:We identified 29 DElncRNAs(25 upregulated and four downregulated)and 212 differentially expressed mRNAs(DEmRNAs;203 upregulated and nine downregulated)in LOPE placentas.Within them,six lncRNAs and four mRNAs were verified by qRT-PCR.GO and KEGG analyses revealed the potential pathways affected by these mRNAs,such as positive regulation of leukocyte chemotaxis,chemokine signaling pathway,and response to hypoxia.Finally,we constructed a ceRNA network including three DElncRNAs and 124 DEmRNAs,whose competing interactions may be mediated by 17 miRNAs.Two DElncRNAs,ENST00000515376 and ENST00000520544,were found to be hub genes,as they interacted with most miRNAs and mRNAs.ENST00000515376 is most likely related to the metabolic process of arachidonic acid,whereas ENST00000520544 is more likely related to the coagulation system,such as the regulation of blood coagulation and platelet degranulation.Conclusion:Differential expression profile of lncRNAs and the lncRNA-miRNA-mRNA network in LOPE provide potential therapeutic targets for this disease.

高原地区卒中后癫痫的临床及预后特征

目的探讨高原地区居民卒中后癫痫(post-stroke epilepsy,PSE)的临床、治疗和预后特征,并分析影响PSE预后的风险因素,为制定高原地区PSE临床诊疗策略提供一定依据。方法回顾性连续纳入2019年1月—2023年6月在西藏自治区人民医院住院治疗的高原地区PSE患者。根据PSE类型分为早发性(卒中后≤7 d)PSE组和迟发性(卒中后>7 d)PSE组,于2023年9月通过电话和门诊相结合的方式进行随访,获取患者的功能预后(mRS评分)情况。比较两组患者的性别、年龄、卒中类型分布、卒中严重程度(发病时mRS评分)、实验室检查等基线资料,以及随访功能预后的差异,分析预后不良(随访mRS评分≥3分)的影响因素。结果共纳入符合入组标准的PSE患者89例,占同期住院高原卒中患者的4.2%,患者发病年龄中位数为55(44~69)岁,男性59例(66.3%),藏族87例(97.8%),发病时mRS评分为3(1~4)分。入组患者中早发性PSE组49例(55.1%),迟发性PSE组40例(44.9%)。卒中亚型分布中脑出血所占比例最高,为39.3%(35例)。最常见的癫痫发作类型为全面起源性发作,共69例(77.5%)。36例(40.4%)PSE患者合并癫痫持续状态。影像学检查显示卒中病灶中最常见的为皮质病灶,共48例(53.9%)。治疗方面85例(95.5%)PSE患者接受了抗癫痫药物治疗,其中79例(88.8%)患者接受单药治疗,最常应用的抗癫痫药物是奥卡西平/卡马西平(36例,40.4%)。PSE患者的院内死亡率为10.1%(9例)。随访时间中位数为27(15~40)个月,预后不良患者占56.7%(38/67),死亡率为35.8%(24/67)。与早发性PSE组相比,迟发性PSE组男性比例更高(78.6%vs.56.6%,P=0.043)且有癫痫家族史比例更高(10.0%vs.0,P=0.037)。两组间的卒中类型分布(P=0.040)和应用抗癫痫药物类型分布(P=0.047)差异有统计学意义。多因素回归分析显示,卒中症状严重(发病时mRS评分高)是PSE预后不良的独立危险因素(OR 1.691,95%CI 1.245~2.297,P<0.001)。结论PSE在高原地区住院卒中患者中的发生率为4.2%。高原地区PSE患者发病时临床症状重,40.4%的患者合并癫痫持续状态。高原地区PSE患者预后不良,致残率和死亡率高。

晚发型母乳性黄疸对患儿心肌损害的临床研究

目的 探讨晚发型母乳性黄疸对患儿心肌细胞影响及早期干预治疗的临床价值。方法 回顾复习本院儿科中心2020年4月至2022年1月收治的晚发型母乳性黄疸患儿86例病历资料,依据胆红素水平分别分为轻度组和中重度组。选取同期在本院儿童保健门诊查体足月健康新生儿60例为对照组。研究组患儿于入院当日黄疸高峰期、黄疸消退期留取静脉血2~3 mL检测血清总胆红素、心肌酶谱(CK、CK-MB)、肌钙蛋白I(cTnI);对照组常规检测上述项目,并对检测结果进行统计学分析。结果 在黄疸高峰期,中重度组心肌酶谱(CK、CK-MB)、cTnI水平较轻度组和对照组均有升高,差异均有统计学意义(P<0.05);轻度组心肌酶谱(CK、CK-MB)、cTnI水平与对照组比较差异无统计学意义(P>0.05)。在黄疸消退期,轻度组、中重度组心肌酶谱(CK、CK-MB)、cTnI水平与对照组比较差异均无统计学意义(P>0.05)。中重度组患儿黄疸高峰期,cTnI检出率为51.4%(18/35),明显高于CK、CK-MB检出率[17.1%(6/35),25.7%(9/35)],差异有统计学意义(P<0.05)。结论 检测血清心肌酶谱(CK、CK-MB)、cTnI能够及早发现晚发型母乳性黄疸患儿心肌损害情况,血清胆红素水平越高,心肌损害越严重,早期干预治疗有一定的临床价值。

异基因造血干细胞移植后迟发型出血性膀胱炎的危险因素分析

目的:分析异基因造血干细胞移植(allo-HSCT)后并发迟发型出血性膀胱炎(LOHC)的危险因素、LOHC发展为重度LOHC的危险因素及LOHC对生存的影响。方法:对2015年1月-2021年12月在重庆医科大学附属第一医院行allo-HSCT的300例患者的临床资料进行回顾性研究,选择可能影响allo-HSCT后LOHC发生的相关临床参数进行单因素和多因素分析,同时分析组间的总生存期(OS)和无进展生存期(PFS)差异。结果:多因素分析结果显示,患者年龄≤45岁(P=0.039)、强化预处理方案中包含氟达拉滨/克拉屈滨+阿糖胞苷(P=0.002)、移植后d 30白蛋白≤30 g/L(P=0.007)、CMV-DNA+(P=0.028)、移植前有真菌感染(P=0.026)、Ⅱ-Ⅳ度a GVHD的发生(P=0.006)是发生LOHC的独立危险因素;在已发生LOHC的移植患者中,LOHC发生的时间在移植后32 d内(P=0.008)、移植后d 30的白蛋白≤30 g/L(P=0.032)是发展为重度LOHC的独立危险因素。重度LOHC组的OS率显著低于未发生LOHC组(P=0.041)。结论:对于年龄≤45岁、强化预处理或LOHC发生较早的移植患者,需要警惕发生LOHC或发展为重度LOHC,应早期做好防治;定期监测CMV-DNA、白蛋白水平,积极有效地抗病毒、抗真菌治疗及防治a GVHD是预防LOHC发生发展的有效措施。

新生儿序贯器官衰竭评分对极低出生体重儿晚发败血症死亡的预测价值

目的评价新生儿序贯器官衰竭评分(nSOFA)对极低出生体重儿晚发败血症死亡风险的预测价值。方法采用单中心、回顾性病例对照性研究。收集2018—2021年于南京医科大学附属苏州医院(苏州市立医院)新生儿科重症监护室住院的首次患有晚发败血症的95例极低出生体重儿确诊感染时及感染6 h后的nSOFA评分,上述患者以持续使用抗生素后发生的临床结局分为死亡组和存活组。采用受试者工作特征(ROC)曲线评估nSOFA评分对极低出生体重儿晚发败血症死亡风险的预测价值。结果感染后6 h晚发败血症死亡组nSOFA与存活组相比,差异有统计学意义(P<0.01),而在确诊感染时差异无统计学意义(P>0.05)。感染后6 h nSOFA评分预测模型ROC的AUC=0.873(95%CI 0.729~1.00,P=0.000),而确诊感染时AUC=0.541(95%CI 0.32~0.77,P=0.69)。感染后6 h nSOFA评分约登指数最大值为0.687,最佳截断值为6.5分。结论确诊败血症后6 h nSOFA能较好地预测极低出生体重儿的死亡风险。监测nSOFA对改善新生儿脓毒症预后有一定的临床价值。