PERK-STING-RIPK3 pathway facilitates cognitive impairment by inducing neuronal necroptosis in sepsis-associated encephalopathy.

AIMS: Sepsis-associated encephalopathy (SAE) is a common but serious complication in septic survivors and often causes long-term cognitive impairments. The role of RIPK3-participated necroptosis in SAE remains obscured. STING is a key molecule in regulating necroptosis and apoptosis. However, there is uncertainty as to the mechanisms of STING in CLP-induced SAE. The aim of this study was to investigate whether STING is involved in the underlying mechanism of SAE. METHODS: The contextual fear conditioning test (CFCT) assesses cognitive impairment. A transmission electron microscope (TEM) was used to notice the necroptosis. Western blotting and immunofluorescence labeling were applied for the observation of related proteins. RESULTS: The phosphorylated STING in the hippocampal neuron of SAE mice was significantly elevated. Knocking down STING inhibited necroptosis and attenuated cognitive impairment in SAE mice. Moreover, RIPK3-/- mice had less cognitive deficit in the SAE model. However, STING overexpression did not deteriorate cognitive impairment in RIPK3-/- mice with SAE, indicating that STING is upstream involved in necroptosis. Furthermore, PERK inhibition ameliorated cognitive deficits through a STING-dependent pathway in SAE mice. CONCLUSION: PERK-STING-RIPK3 pathway facilitates cognitive impairment by inducing neuronal necroptosis in the pathology of SAE, which provided a new therapeutic target in SAE treatment.

Analysis of red blood cells supply before and after the outbreak of COVID-19 from 2018 to 2021 in 18 domestic blood centers / 中国输血杂志

【Objective】 To compare the supply data of red blood cells(RBCs) from 18 blood centers in China before and after the outbreak of COVID-19 during 2018 to 2021. 【Methods】 Eight indicators related to RBCs supply from 18 blood centers in China during 2018-2021 were collected retrospectively, including the storage of total amount of qualified RBCs (referred to as the total amount of storage), the distribution of total amount of RBCs (referred to as the total amount of distribution), the distribution amount of RBCs per 1 000 population (referred to as the amount of distribution per 1 000 population), the distribution amount of RBCs from 400 mL original blood per 1 000 population [referred to as the amount of distribution per 1 000 population (400 mL)], the average daily distribution amount of RBCs (referred to as the average daily distribution amount), the average daily storage amount of RBCs (referred to as the average daily storage amount), the average storage days of RBCs when distribute (referred to as the RBC storage days), and the expired amount of RBCs (referred to as the expired amount). Based on the outbreak time of COVID-19, the data of 2018 and 2019 were the pre-pandemic group, and the data of 2020 and 2021 were the post-pandemic group. 【Results】 Data on RBCs supply in 18 blood centers from 2018 to 2021(comparison of the pre-pandemic group and the post-pandemic group): the amount of distribution per 1 000 population (median 14.68 U>13.92 U) decreased, the amount of distribution per 1 000 population (400 mL) (median 10.16 U>9.21 U) decreased, and the difference was statistically significant (P99 084.08 U) decreased, the amount of distribution per 1 000 population (median 15.04 U>12.19 U) decreased, the amount of distribution per 1000 population (400 mL) (median 10.11 U>8.94 U), the average daily distribution amount(322.66 U>270.73 U) decreased and RBC storage days (median 10.50 d324.46 U), the average daily inventory (median 3 222.00 U0.00 U) decreased, the difference has statistical significance (P<0.05). The results of ANOVA showed that there were significant differences on the data related to RBCs supply (except expired amount) in different blood centers (P<0.05). The ratio of average daily stock to average daily distribution in the post-outbreak group (median 12.36 d) was higher than that in the pre-outbreak group (median 10.92 d), the difference has statistical significance (P<0.05), with significant difference among different blood centers (P <0.05). 【Conclusion】 The COVID-19 pandemic has a significant impact on RBCs supply in different blood centers. In the second year of the pandemic, the supply capability had recovered to some extent, and there were differences in RBCs supply in different blood centers.

Prevalence and radiographic morphology of atlantoaxial dislocation in Kashin-Beck disease / 西安交通大学学报(医学版)

【Objective】 Until now, most clinical and basic studies on Kashin-Beck disease (KBD) have focused on the visible deformed extremities, and there is a lack of reports concerning their spinal features, especially for the atlantoaxial joint. The purpose of this study was to determine the prevalence and radiographic features of atlantoaxial dislocation (AAD) in KBD in adult patients. 【Methods】 The prevalence and radiographic features of AAD were determined by the basic information collected, clinical symptoms, and lateral and dynamic plain radiography in 111 KBD patient and 120 non-KBD participants. In the KBD group, AAD and non-AAD patients were compared in age, gender, height, weight, BMI, smoking history, chronic history, disease duration and grade of disease so as to identify the related factors of the occurrence of AAD. 【Results】 Symptoms at the neck or neurological manifestations were present in 17.5% (21/120) in the non-KBD population and 39.6% (44/111) patients with KBD. AAD case was not detected in the non-KBD population, while in 16.2% (18/111) of KBD patients in the endemic area. The prevalence was higher in the KBD patients than in the non-KBD population, and there was a significant difference in the detection rate of AAD between the two groups (χ2=21.10, P<0.001). Plain radiography demonstrated that there were 10 (55.6%) cases with separation of the odontoid process and the other 8 (44.4%) cases with hypoplasia of odontoid process. Anterior AAD was noted in 12 (66.7%) patients and posterior AAD in 6 (33.3%) cases based on the displacement direction, while 16 (88.9%) cases were reducible and 2 (11.1%) cases were irreducible on the basis of the reducibility. Comparing the 93 patients with non-AAD KBD patients and 18 patients with AAD patients, there was no significant difference in age, sex, BMI, history of medical disease or smoking (all P>0.05). There were significant differences in height, weight, disease duration and grade of disease between AAD and non-AAD patients (all P<0.05). 【Conclusion】 KBD can cause the occurrence of atlantoaxial dislocation by inducing separation or hypoplasia of the odontoid process. This research may provide clinical evidence for screening, earlier prevention and treatment of atlantoaxial dislocation in adult KBD patients.

Previously unrecognized non-reproducible antibody-antigen interactions and their implications for diagnosis of viral infections including COVID-19

Antibody-antigen (Ab-Ag) interactions are canonically described by a model which exclusively accommodates non-interaction (0) or reproducible-interaction (RI) states, yet this model is inadequate to explain often-encountered non-reproducible signals. Here, by monitoring diverse experimental systems and confirmed COVID-19 clinical sera using a peptide microarray, we observed that non-specific interactions (NSI) comprise a substantial proportion of non-reproducible antibody-based results. This enabled our discovery and capacity to reliably identify non-reproducible Ab-Ag interactions (NRI), as well as our development of a powerful explanatory model ("0-RI-NRI-Hook four-state model") that is [mAb]-dependent, regardless of specificity, which ultimately shows that both NSI and NRI are not predictable yet certain-to-happen. In experiments using seven FDA-approved mAb drugs, we demonstrated the use of NSI counts in predicting epitope type. Beyond challenging the centrality of Ab-Ag interaction specificity data in serology and immunology, our discoveries also facilitated the rapid development of a serological test with uniquely informative COVID-19 diagnosis performance.

Application of iPDMS protein microarray in screening of tumor-associated antigen autoantibodies / 生物工程学报

The rapid screening of tumor markers is a challenging task for early diagnosis of cancer. This study aims to use highly sensitive chemiluminescent protein microarray technology to efficiently screen a variety of low abundance tumor related markers. A new material, termed integrated polydimethylsiloxane modified silica gel (iPDMS), was obtained by adding a surface polymerization initiator with olefin end to the conventional polydimethylsiloxane, and fixing into the three-dimensional structure of polydimethylsiloxane by thermal crosslinking through silicon hydrogen bonding. In order to make the iPDMS material resistant to non-specific protein adsorption, a poly(OEGMA) polymer brush was synthesized by surface-initiated atom transfer radical polymerization at the active initiation site. Finally, 20 tumor-related antigens were printed into the specific areas of the microarray by high-throughput spray printing technology, and assembled into 48-well detection microtiterplates of the iPDMS microarray. It was found the VEGFR and VEGF121 autoantibodies that obtained from 8 common tumors (breast cancer, lung cancer, colon cancer, gastric cancer, liver cancer, leukemia, lymphoma and ovarian cancer) can be used as potential tumor markers. The chemiluminescence labeled iPDMS protein microarray can be used for the screening of tumor autoantibodies at early stage.

Influence of popularizing relevant knowledge on voluntary blood donation of patients′ families: in terms of knowledge, attitude and practice / 中国输血杂志

【Objective】 To investigate the influence of knowledge popularization concerning blood donation and blood use on the knowledge, attitudes and practice(KAP) of voluntary blood donation of patients′ families. 【Methods】 Knowledge popularization on voluntary blood donation and clinical blood use was conducted to family members of tumor patients. A questionnaire was designed according to KAP theory to capture the general situation, blood donation history and demographic characteristics of patients′ family members, their knowledge on blood donation and clinical blood use, as well as their intention, attitude and behavior changes on voluntary blood donation before and after popularization. 【Results】 13.49%(104/771) of the family members of tumor patients donated, and most of them aged 28~37 years old(19.7%, 26/132). The awareness rate of patients′ family members on voluntary blood donation and clinical blood use after popularizing was significantly increased as compared with before(P<0.05). Especially, the awareness rate of "blood transfusion significance and the risk of infectious diseases", and " patients were given priority to use blood if their family members donated blood" increased to 61.35%(473/771) and 68.74%(530/771), respectively.Their intention, attitude and behavior of blood donation also changed significantly(P<0.05). The intention of supporting voluntary blood donation increased to 78.21%(603/771), and non-supporting decreased to 4.15%(32/771). Such three behaviors led to a donation rate higher than 70% as donating for charity and sense of responsibility(74.06%, 571/771), donating blood after reassuring(70.69%, 545/771), and promoting their family members′ priority in blood use(71.47%, 551/771). 【Conclusion】 The popularization of knowledge concerning blood donation and blood use can change the intention and attitude of patients′ family members towards voluntary blood donation and further effectively promote their donation behavior.

A diagnostic decision-making protocol combines a new-generation of serological assay and PCR to fully resolve ambiguity in COVID-19 diagnosis

The capacity to accurately diagnosis COVID-19 is essential for effective public health measures to manage the ongoing global pandemic, yet no presently available diagnostic technologies or clinical protocols can achieve full positive predictive value (PPV) and negative predictive value (NPV) performance. Two factors prevent accurate diagnosis: the failure of sampling methods (e.g., 40% false negatives from PCR testing of nasopharyngeal swabs) and sampling-time-dependent failures reflecting individual humoral responses of patients (e.g., serological testing outside of the sero-positive stage). Here, we report development of a diagnostic protocol that achieves full PPV and NPV based on a cohort of 500 confirmed COVID-19 cases, and present several discoveries about the sero-conversion dynamics throughout the disease course of COVID-19. The fundamental enabling technology for our study and diagnostic protocol--termed SANE, for Symptom (dpo)-Antibody-Nucleic acid-Epidemiological history--is our development of a peptide-protein hybrid microarray (PPHM) for COVID-19. The peptides comprising PPHMO_SCPLOWCOVIDC_SCPLOWO_SCPCAP-19C_SCPCAP were selected based on clinical sample data, and give our technology the unique capacity to monitor a patients humoral response throughout the disease course. Among other assay-development related and clinically relevant findings, our use of PPHMO_SCPLOWCOVIDC_SCPLOWO_SCPCAP-19C_SCPCAP revealed that 5% of COVID-19 patients are from an "early sero-reversion" subpopulation, thus explaining many of the mis-diagnoses we found in our comparative testing using PCR, CLIA, and PPHMO_SCPLOWCOVIDC_SCPLOWO_SCPCAP-19C_SCPCAP. Accordingly, the full SANE protocol incorporates orthogonal technologies to account for these patient variations, and successfully overcomes both the sampling method and sampling time limitations that have previously prevented doctors from achieving unambiguous, accurate diagnosis of COVID-19.

Effectiveness of Convalescent Plasma for Treatment of COVID-19 Patients

Background and objectiveThe outbreak of COVID-19 has become a global health concern. In this study, we evaluate the effectiveness and safety of convalescent plasma therapy in patients with severe and critically ill COVID-19. MethodsSixteen COVID-19 patients received transfusion of anti-COVID-19 antibody-positive convalescent plasma. The main outcome was time for viral nucleic acid amplification (NAA) test turning negative. Clinical laboratory parameters were measured at the baseline (d0) before plasma transfusion, and day 1 (d1), day 3 (d3) after transfusion as well. ResultsAmong the 16 patients, 10 of them had a consistently positive result of viral NAA test before convalescent plasma transfusion. Eight patients (8/10) became negative from day 2 to day 8 after transfusion. Severe patients showed a shorter time for NAA test turning negative after transfusion (mean rank 2.17 vs 5{middle dot}90, P = 0.036). Two critically ill patients transfused plasma with lower antibody level remained a positive result of NAA test. CRP level demonstrated a decline 1 day after convalescent plasma treatment, compared with the baseline (P = 0.017). No adverse events were observed during convalescent plasma transfusion. ConclusionsViral NAA test of most patients with COVID-19 who received convalescent plasma transfusion turned negative on the 2nd to 8th days after transfusion, and the negative time of severe patients was shorter than that of critically ill patients. Trial RegistrationChinese Clinical Trial Registry; No.: ChiCTR2000030627 URL:http://www.chictr.org

Gene variant analysis of a patient with multiple carboxylase deficiency / 中华医学遗传学杂志

OBJECTIVE@#To explore the genetic basis for a patient featuring multiple carboxylase deficiency (MCD).@*METHODS@#PCR and Sanger sequencing were used to detect variant in the coding region of BT and HLCS genes in the patient. Suspected variants were verified in her parents and 80 unrelated healthy controls by a PCR-restriction fragment length polymorphism (PCR-RFLP) method.@*RESULTS@#The patient was found to carry compound heterozygous variants of the HLCS gene, namely c.286delG (p.Val96Leufs*162) and c.1648G>A (p.Val550Met). The c.286delG (p.Val96Leufs*162) was verified to be novel variant based on the result of PCR-RFLP analysis. No variant was found in the coding regions of BT gene in the patient.@*CONCLUSION@#The compound c.286delG (p.Val96Leufs*162) and c.1648G>A (p.Val550Met) variants probably underlie the MCD disorder in this patient. Above results have enriched the variant spectrum of MCA.

Effects of intravenous anesthesia with sufentanil combined with propofol on hemodynamics and oxygen metabolism in patients with esophageal cancer under high altitude / 中国医师杂志

Objective To investigate the effect of intravenous anesthesia with sufentanil combined with propofol on hemodynamics and oxygen metabolism in patients with esophageal cancer under high altitude.Methods 60 patients with esophageal cancer radical surgery was selected from March 2015 to March 2017 in our hospital and were divided into two groups according to the random number table,30 patients in each group.Patients in the control group were given with fentanyl and propofol intravenous anesthesia,and patients in the observation group were given sufentanil combined with propofol anesthesia.The occurrence of restlessness during the recovery of anesthesia in the two groups were observed,the spontaneous breathing recovery time,extubation time and postoperative Mini-mental State Examination (MMSE) score were recorded,and the indexes of hemodynamics and oxygen metabolism were measured at the time of before induction of anesthesia (T0),tracheal intubation (T1),skin incision (T2),thoracotomy (T3),free esophagus (T4),esophageal catheter removal time (T5).Results The spontaneous respiration recovery time and extubation time of the observation group were significantly shorter than those of the control group (P ＜ 0.05).The degree of restlessness in the observation group was weaker than that in the control group (P ＜ 0.05).Mean arterial pressure (MAP) in the control group at T2-T4 were significantly higher than those in T0 (P ＜ 0.05),but MAP and heart rate (HR) in the observation group at T1-T5 were significantly lower than those of T0 (P ＜ 0.05).Compared with T0 group,oxygen saturation (SpO2),oxygen saturation of mixed venose blood (SvO2) and oxygen delivery (DO2) at T1-T5 were significantly decreased (P ＜ 0.05),oxygen consumption (VO2) at T2-T4 was significantly increased (P ＜ 0.05),especially in the control group (P ＜ 0.05).The MMSE scores of the two groups were significantly lower than those before the operation (P ＜ 0.05),and the scores in observation group was significantly higher than the control group (P ＜ 0.05).Conclusions The intravenous anesthesia with sufentanil combined with propofol is more helpful in maintaining hemodynamic stability and oxygen metabolism balance than intravenous anesthesia with fentanyl combined with propofol and has little effect on postoperative anesthesia recovery and cognitive function.

Prognostic study of visceral pleural invasion by pulmonary adenocarcinoma with tumor size ≤3 cm / 中华病理学杂志

Objective@#To evaluate the relationship between visceral pleural invasion (VPI) and other clinicopathological features in lung adenocarcinoma with tumor size ≤3 cm, and to investigate the impact of VPI on the patients′ prognosis.@*Methods@#The clinical and pathological features were retrospectively reviewed in 231 cases of lung adenocarcinoma with the largest diameter of tumor ≤3 cm, following complete resection and systemic lymphadenectomy. VPI was divided into three grades, PL0, PL1 and PL2 according to modified Hammar classification for lung cancer upon elastic fiber staining. Survival analysis was performed by Kaplan-Meier method, and the risk factors for prognosis were explored by Cox proportional hazards model. Patient prognosis was evaluated by progression-free survival (PFS) and overall survival (OS).@*Results@#In all 231 cases, the number of patients with VPI was 70 (30.3%), of which 61 cases were PL1 and 9 cases were PL2. The remaining 161 cases (69.7%) had no VPI (PL0). The tumor size (P=0.003), histological grade (P<0.01), the presence of solid component (P=0.001) and micropapillary component (P=0.009), N stage (P<0.01) and TNM stage (P<0.01) were significantly correlated with VPI. Patients with VPI had significantly shorter PFS and OS than those without VPI (P<0.01). There were significant differences in PFS and OS between patients with different VPI levels (P<0.01). Cox multivariate regression analysis showed that VPI was not an independent prognostic factor, whereas PL2 was an independent prognostic factor for PFS (P=0.007), but not an independent prognostic factor for OS (P=0.052).@*Conclusions@#For patients with lung adenocarcinoma of tumor size ≤3 cm, VPI is related to poor prognosis; However, only PL2 is an independent prognostic factor for PFS. It may be not necessary to separate PL0 and PL1 status in smaller lung adenocarcinomas. Therefore, the definition of VPI may need further modification through large cohort studies.

Application of p16/Ki-67 immunocytochemistry in triage of patients with atypical squamous cells of undetermined significance / 中华病理学杂志

Objective@#To investigate the clinical value of p16/Ki-67 immunocytochemistry in patients with atypical squamous cells of undetermined significance(ASC-US).@*Methods@#One hundred and seventy-one cases of thin-prep cytology test (TCT) diagnosed as ASC-US underwent p16/Ki-67 immunocytochemistry. All patients had colposcopy and biopsy from March 2015 to January 2016. Ninety of the 171 cases underwent high-risk HPV test at the same time.@*Results@#p16/Ki-67 immunocytochemistry was positive in 43.9% (75/171) of the 171 cytology samples; the sensitivity and specificity of p16/Ki-67 immunocytochemistry were 77.6%(52/67) and 77.9%(81/104) in detecting CIN2+ , and the positive and negative predictive value were 69.3%(52/75) and 84.4%(81/96), respectively. The sensitivity and specificity in diagnosing CIN2+ were 100.0%(34/34) and 10.7%(6/56) for HPV test, and the positive and negative predictive value were 40.5%(34/84) and 6/6. p16/Ki-67 immunocytochemistry showed lower sensitivity but obviously higher specificity than high-risk HPV detection.@*Conclusion@#p16/Ki-67 immunocytochemistry is a good triage test for identifying CIN2+ in ASC-US specimens.

Bioinformatics research of CD44 and epithelial cell adhesion molecule related genes and pathways in colorectal cancer / 中华消化杂志

Objective To investigate genes and involved biological processes closely associated with stem cell markers of colorectal cancer-epithelial cell adhesion molecule (EpCAM) + and CD44+.Methods By the bioinformatics method,with microarray data of colorectal cancer from gene expression omnibus (GEO) database and R2 platform,the genes significantly related with CD44 and EpCAM expression were screened out.The differences in expression of related genes were analyzed on the basis of gender,family history of cancer,alcohol and Dukes stage.The expression of related genes in colorectal cancer was compared with that of other tumors and healthy subjects.At same time,the pathways of the genes and Kyoto encyclopedia of genes and genomes (KEGG) of CD44 and EpCAM significantly related genes were analyzed with gene ontology (GO) and KEGG method.Single factor analysis of variance and Chi-square test of four-fold table with correction for continuity were used for statistical analysis by R2 platform embedded statistical tools.Results The expressions of CD44 and EpCAM were detected in all 315 colorectal cancer samples.A total of 888 and 6 316 genes were screened out which were significantly associated with CD44 and EpCAM expression.CD44 was positively correlated with EpCAM.There was no obvious correlation between the expression of five genes which expressed in all 315 tissues and gender family history of cancer,alcohol and Dukes stage (all P＞0.05).By further compared with the expression in other tumors and tissues,the expressions of two genes solute carrier family 12,member 2 (SLC12A2) and proteome of centriole 1 centriolar protein B (POC1B) in colorectal tumor were significantly higher than that in other tumors (F=289.422、128.456,all P＜0.01),and its expression in colorectal cancer was obviously higher than that in tissues of health subjects (F=349.519、128.456,all P＜0.01).GO analysis indicated there were 15 GO semantics related with both CD44 and EpCAM.The genes related with CD44 and EpCAM were analyzed by KEGG access pathway method,while seven and 10 pathways were found to be statistically significant (all P＜0.01).Conclusions CD44 and FpCAM commonly expressed in colorectal cancer.The genes related with CD44 and EpCAM expression are involved in multiple tumor biological processes.

Notch signaling in bone formation and related skeletal diseases / 中华医学遗传学杂志

Notch signaling is highly conserved in evolution and regarded as a key factor in cell fate determination. It mediates cell-to-cell interactions that are critical for embryonic development and tissue renewal, and is involved in the occurrence and metastasis of neoplasm. Recent researches have found that such signaling plays an important role in modulating the differentiation of chondrocytes, osteoblasts and osteoclasts. Dysfunction of Notch signaling can result in many skeletal diseases such as bone tumor, disorders of bone development or bone metabolism.

Genetic diagnosis of Duchenne/Becker muscular dystrophy by MLPA / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To assess the value of multiplex ligation-dependent probe amplification (MLPA) for the genetic and prenatal diagnosis of Duchenne/Becker muscular dystrophy (DMD/BMD).</p><p><b>METHODS</b>Forty seven patients clinically diagnosed or suspected with DMD/BMD were recruited. Deletion or duplication of the 79 exons of the DMD gene were detected by MLPA. PCR and sequencing were used to detect single exon deletion. MLPA was also used for identifying carriers. For cases requesting prenatal diagnosis, short tandem repeat (STR) capillary electrophoresis, linkage analysis and MLPA were applied to determine fetal DMD gene.</p><p><b>RESULTS</b>Among the 47 patients, deletions and duplications encompassing one or more exons were identified in 31 and 7 cases with MLPA, respectively. Seven patients had single exon deletions. However, one of which was actually a point mutation in the probe-conjugated region and was confirmed by PCR and sequencing. Of the 23 mothers with MLPA positive sons, 13 were found to carry either deletions or duplications. Prenatal diagnosis has identified 2 male affected fetuses and 3 female carrier fetuses in the 13 cases examined, which was in conformity with linkage analysis.</p><p><b>CONCLUSION</b>Our data demonstrated that MLPA is a rapid, direct and reliable method for detecting deletions or duplications of the DMD gene. It can also indicate small changes within the sequences detected by the probe. Combing MLPA with PCR, sequencing and linkage analysis could make the genetic diagnosis of DMD/BMD more accurate.</p>

Homozygous survival motor neuron 2 gene deletion and sporadic lower motor neuron disease in children: case report and literature review.

A case of lower motor neuron disease with homozygous survival motor neuron 2 (SMN2) gene deletion is reported in this article. A 7-year-old boy was admitted to our hospital with main complaints of lower extremity weakness and difficulty squatting for the past year. SMN gene copies were quantified by multiplex ligation-dependent probe amplification. Exons 7 and 8 of the SMN1 gene were normal, but homozygous deletion of exons 7 and 8 of the SMN2 gene was identified. Homozygous deletion of exons 7 and 8 of the SMN centromeric gene was detected, and exons 7 and 8 of the SMN1 gene were found to be normal in the proband. Two copies of exons 7 and 8 of the SMN1 gene were identified, and zero copies of exons 7 and 8 of the SMN2 gene were found. We consider that this case represents a previously unrecognized type of lower motor neuron disease that resulted from homozygous deletion of the SMN2 gene.

The influence of lateral occlusal forces to the stress distribution of restorative material of wedge-shaped defect / 华西口腔医学杂志

<p><b>OBJECTIVE</b>To evaluation the influences of lateral occlusal forces to stress distribution in filling material after the restorative therapy of wedge-shaped defect.</p><p><b>METHODS</b>A three-dimensional finite element model of maxillary first premolar with wedge-shaped defect was established. The defect zone of the model with simulated glass ionomer was restored. Loads of different directions were applied on the model and stress analysis of restorative material were conducted.</p><p><b>RESULTS</b>When the loading direction was parallel to the tooth long axis, restorative material unit subjected to relative small stress. When the loading direction was vertical to the cusp inclined plane, stress endured by restorative material unit was significantly increased, as the angle of loading inclination increased, the increase of stress became more pronounced.</p><p><b>CONCLUSION</b>After the restorative treatment of wedge-shaped defects in clinical, occlusal adjustment should be applied to reduce the inclination of cusp to relieve the lateral forces subjected by tooth so as to ease the stress burden of restorative material.</p>

Distribution and morphological variation of germplasm resource of Sophora alopecuroides / 中国中药杂志

<p><b>OBJECTIVE</b>To analyze the genetic difference of biological characters on germplasm resources of Sophora alopecuroides.</p><p><b>METHOD</b>Twenty-three populations of S. alopecuroides from Ningxia, Gansu, Qinghai, Xinjiang and Inner Mongolian were used to analyze the seed size, 1 000-grain weight, and germination characteristics and so on.</p><p><b>RESULT</b>It showed that there were significant differences in seed size, 1 000-grain weight and the vitality of seeds. The biggest seed of S. alopecuroides was 4.7 mm x 3.5 mm, and the smallest was 3.8 mm x 2.9 mm, and the 1 000-grain weight was 15-26 g. Results of seeds vitality in 8 populations indicated that the highest vitality of seeds were No. 103 and No. 122. The germination index was 36.51 and 36.24 respectively, and the vitality index was 1 323.49 and 1 274.56. The coefficient of variation in seed traits exceeded 10% except the seed size.</p><p><b>CONCLUSION</b>There are some differences and different heredity background in various S. alopecuroides germplasm resources.</p>

An event-related functional MRI study on working memory impairment in children with primary nocturnal enuresis / 中华放射学杂志

Objective To assess the working memory and explore the activation of brain areas for children with primary nocturnal enuresis (PNE) with fMRI scan. Methods Twenty three right-handed children with PNE and 20 age-matched right-handed healthy children as the controls were recruited.Intelligence tests were performed by means of Wechsler Young Children Scales of Intelligence (C-WISC) in children with PNE and normal controls. The full intelligence quotient (FIQ), verbal IQ (VIQ),performances IQ (PIQ) and the memory/caution (M/C) factor of PNE children and the controls were measured. After Intelligence tests, an enent-related fMRI scan was performed using the categorial N-Back working memory task. Percent of correct responses (PCR) and mean reaction time to correct response (mRT) were recorded and analyzed by the student t test. The fMRI data were analyzed using Statistical Parametric Mapping 2 (SPM2), the differences in activation were compared between two groups. Results The data of 15 PNE children and 15 healthy children were evaluated. The FIQ, VIQ and PIQ in PNE group were in a normal range and no statistical significance with the control group ( P ＞ 0. 05). M/C factor in the PNE group(90.4 ±10.2)was significantly lower than that in the control group (99. 6 ± 11.9) (t =2. 260,P ＜ 0. 05). In the N-Back test, PNE children had significantly less PCR [(72.7±6.3 ) % vs. ( 86. 3 ±6. 7) %, t = 5. 727,P ＜ 0. 01] and longer mRT [ (625. 8 ± 72.5) ms vs. (534. 8 ± 63. 3 ) ms, t = 3. 684,P ＜ 0.01] than the healthy controls. The activation regions of PNE patients and healthy children were mainly in the dorsal right frontal lobe, right parietal lobe, left temporal lobe gyrus fusiformis and bilateral cerebellum posterior lobe. The activation level in left posterior cerebellar lobe in PNE children was significant lower than that in healthy controls (P＜0.01). Conclusion The children with PNE have deficits in working memory which might be associated with the dysfunction of the left cerebellum.

Analysis of DMD gene mutations in 59 families in northern China / 中华检验医学杂志

Objective To detect the DMD gene mutation sites and the regions of breakpoints in Duchenne/Becker muscular dystrophy (DMD/BMD) patients in northern China. Methods Multiplex amplifiable probe hybridization (MLPA) was used to detect the mutation in 59 cases (51 cases with DMD and 8 with BMD) from northern China and dystrophin gene mutations in their parents. Results From northern China and dystrophin gene mutations 59 families found gene deletions in 33 cases of 59 DMD/BMD patients (55.9%), duplications in 6 cases (10. 2%) and point mutation in one case (1.7%). Intron 44 was most frequently affected (n = 13, 33.3%), followed by intron 50 (n = 11, 28.2%) and intron 45 (n=8, 20.5%). The novel mutations were identified, in two patients including two independent duplications carried by patient D1 149 and a point mutation [5208del(A)] carried by patient D1 65, which were not included in Leiden database. In addition, an exon 22 deletion was found in one patient, which was the first reported case in Chinese patients. Conclusions Deletions are mostly located in the hotspot between exon 45 and 50. Duplications mostly occurred in the 5' end of the gene. Intron 44 is the most frequently affected breakpoint in northern Chinese population.