Research progress on the diagnosis and treatment of pediatric malocclusion combined with obstructive sleep apnea-hypopnea syndrome / 口腔疾病防治

@#Pediatric malocclusion is common in dentistry. Some children with malocclusion combined with obstructive sleep apnea-hypopnea syndrome (OSAHS) often fail to receive appropriate treatment due to a lack of multidisciplinary diagnosis and treatment. It can cause abnormal ventilation during sleep, affecting the central nervous system and cardiovascular development and even causing neurological and behavioral problems. Pediatric OSAHS is caused by the narrowing of the upper respiratory tract, characterized by specific facial bone characteristics and neuromuscular factors and correlated with malocclusion. Due to its diverse clinical manifestations and etiology, the diagnosis and treatment of pediatric OSAHS require an interdisciplinary, personalized, and specialized approach. Questionnaires and physical examinations can be used for preliminary screening. Moreover, children's stomatology and otorhinolaryngology examinations are the basis for disease diagnosis. Polysomnography (PSG) is currently the direct diagnostic method. There are various treatment methods for OSAHS in children, and for OSAHS caused by adenoid tonsil hypertrophy, adenoidectomy and tonsillectomy are the main treatments. Othodontic treatment including mandibular advancement and rapid maxillary expansion et al is also effective for OSAHS in children with malocclusion. Currently, there is limited research on the correlation between childhood malocclusion and OSAHS, and multidisciplinary combination therapy may improve the cure rate, but there is a lack of sufficient evidence. In the future, the pathogenesis of OSAHS should be further elucidated, and research on multidisciplinary combination therapy should be promoted to achieve early intervention and treatment for potential and existing patients.

Progress in diagnosis and treatment of orthostatic intolerance / 中华老年医学杂志

Orthostatic intolerance is a syndrome characterized by a series of symptoms that occur when standing upright, resulting in the loss of ability to maintain an upright position.This condition can be further classified into orthostatic hypotension, postural orthostatic tachycardia syndrome, and vasovagal syncope.Some scholars suggest that orthostatic hypertension may also be considered a part of this syndrome.The most significant risk associated with orthostatic intolerance is falls, which can lead to physical injury and psychological distress.This article aims to review the advancements made in the diagnosis and treatment of orthostatic intolerance, so as to enhance the standardization of clinical diagnosis and improve the effectiveness of treatment.

Application value of S-Detect combined with contrast-enhanced ultrasound in the Breast Imaging Reporting and Data System 4 breast lesions / 中华超声影像学杂志

Objective:To assess the value of S-Detect and contrast-enhanced ultrasound (CEUS) in the differential diagnosis of Breast Imaging Reporting and Data System(BI-RADS) 4 breast lesions.Methods:A total of 104 breast lesions in 100 patients diagnosed as BI-RADS category 4 by conventional ultrasound were prospectively enrolled, and all of them were received S-Detect and CEUS examination at the same time. Taking pathology as the gold standard, ROC curve was constructed to compare the diagnostic efficacy of conventional ultrasound, S-Detect, CEUS and their combination.Results:Among the 104 BI-RADS category 4 breast lesions, 63 were benign and 41 were malignant. The sensitivities of conventional ultrasound, S-Detect, CEUS and S-Detect combined with CEUS were 73.17%, 87.80%, 87.80%, 90.24%; the specificities were 57.14%, 60.32%, 68.25%, 77.78%; the positive predictive values were 52.63%, 59.02%, 64.29% and 72.55%; the negative predictive values were 76.60%, 88.37%, 89.59% and 92.45%; the accuracies were 63.46%, 71.15%, 75.96% and 82.69%; and the areas under the ROC curve (AUC) were 0.652, 0.741, 0.780 and 0.840. The sensitivity, specificity, positive predictive value, negative predictive value and accuracy of S-Detect and CEUS diagnosis were improved compared with conventional ultrasound. The AUC of combined diagnosis was higher than that of S-Detect, CEUS alone, and the differences were statistically significant(all P<0.05). The AUC of CEUS was higher than that of conventional ultrasound, and the difference was statistically significant ( P<0.05). There were no significant differences in AUC between any two of other groups (all P>0.05). Conclusions:The combined application of S-Detect and CEUS could achieve complementary advantages, which is of great significance for the differential diagnosis of benign and malignant in BI-RADS 4 breast lesions.

Combination immunotherapy of glioblastoma with dendritic cell cancer vaccines,anti-PD-1 and poly I:C / 药物分析学报

Glioblastoma(GBM)is a lethal cancer with limited therapeutic options.Dendritic cell(DC)-based cancer vaccines provide a promising approach for GBM treatment.Clinical studies suggest that other immu-notherapeutic agents may be combined with DC vaccines to further enhance antitumor activity.Here,we report a GBM case with combination immunotherapy consisting of DC vaccines,anti-programmed death-1(anti-PD-1)and poly I:C as well as the chemotherapeutic agent cyclophosphamide that was integrated with standard chemoradiation therapy,and the patient remained disease-free for 69 months.The patient received DC vaccines loaded with multiple forms of tumor antigens,including mRNA-tumor associated antigens(TAA),mRNA-neoantigens,and hypochlorous acid(HOCl)-oxidized tumor lysates.Furthermore,mRNA-TAAAs were modified with a novel TriVac technology that fuses TAAs with a destabilization domain and inserts TAAs into full-length lysosomal associated membrane protein-1 to enhance major histo-compatibility complex(MHC)class Ⅰ and Ⅱ antigen presentation.The treatment consisted of 42 DC cancer vaccine infusions,26 anti-PD-1 antibody nivolumab administrations and 126 poly I:C injections for DC infusions.The patient also received 28 doses of cyclophosphamide for depletion of regulatory T cells.No immunotherapy-related adverse events were observed during the treatment.Robust antitumor CD4+and CD8+T-cell responses were detected.The patient remains free of disease progression.This is the first case report on the combination of the above three agents to treat glioblastoma patients.Our results suggest that integrated combination immunotherapy is safe and feasible for long-term treatment in this patient.A large-scale trial to validate these findings is warranted.

Kaufman Oculocerebrofacial syndrome in a newborn: a case report and literature review / 中国新生儿科杂志

Objective:To study the clinical features, treatment, and prognostic features of Kaufman Oculocerebrofacial syndrome.Methods:The clinical characteristics of a newborn with Kaufman Oculocerebrofacial syndrome admitted to the neonatal unit of Guiyang Maternal and Child Health Care Hospital was reported. Using "Kaufman Oculocerebrofacial syndrome", "Blepharophimosis-ptosis-intellectual disability syndrome" and "UBE3B gene" as keywords, databases including CNKI, VIP database, Wanfang database, Chinese medical journals full-text database, PubMed, Web of Science database and Embase database were searched from the date of establishment to June 2022. The clinical characteristics, treatment and prognosis of Kaufman Oculocerebrofacial syndrome from published literature were summarized.Results:The proband was a boy presenting with small lid fissure, wide eye spacing and feeding difficulties. Whole exome sequencing revealed compound heterozygous mutation in the UBE3B gene, c.1445_1448dupTCAC inherited from his father and c.1703dupA inherited from his mother, both variants had not been reported in the domestic and foreign literature thus far. A total of 34 newborn cases were summarized from 11 case reports, including this report. The main clinical manifestations were developmental delay (35/35), peculiar facial features (35/35), narrow eye slits (35/35), feeding difficulties (33/35), ear abnormalities (33/35), hypotonia (32/35), mouth abnormalities (31/35), breathing difficulties (26/35), small jaws (25/35) and low birth weight (16/35).There is no effective treatment available, and a total of 4 cases followed up to over 16 years old have been reported, all of which have severe mental retardation, language deficiency, along with other serious neurological diseases.Conclusions:when children exhibit symptoms such as narrow eye fissures, feeding difficulties, hypotonia, developmental delays, and peculiar facial features in the neonatal period, whole exome sequence can be used to aid diagnosis and evaluate for Kaufman Oculocerebrofacial syndrome. Families with children of Kaufman Oculocerebrofacial syndrome may undergo prenatal diagnosis based on genetic findings.

Gender differences in antidepressant effect of raw Rehmanniae Radix / 中国中药杂志

For the first time, this study evaluated the gender differences and mechanisms of the antidepressant effects of raw Rehmanniae Radix(RRR) based on the classic depression model with traditional Chinese medicine syndrome of Yin deficiency and internal heat. The depression model with Yin deficiency and internal heat was established by the widely recognized and applied method of thyroxine induction of the classic depression model with Yin deficiency and internal heat(chronic unpredictable mild stress). Male and female mice were simultaneously treated with RRR. The study analyzed indicators of nourishing Yin and clearing heat, conventional antidepressant efficacy test indicators, and important biomolecules reflecting the pathogenesis and prevention and treatment mechanisms of depression, and conducted a correlation analysis of antidepressant efficacy, Yin-nourishing and heat-clearing efficacy, and biological mechanism in different genders, thereby comprehensively assessing the antidepressant effects of RRR on depression of Yin deficiency and internal heat, as well as its gender differences and mechanisms. RRR exhibited antidepressant effects in both male and female mouse models, and its antidepressant efficacy showed gender differences, with a superior effect observed in females. Moreover, the effects of RRR on enhancing or improving hippocampal neuronal pathology, nucleus-positive areas, postsynaptic dense area protein 95, and synaptophysin protein expression were more significant in females than in males. In addition, RRR significantly reversed the abnormal upregulation of nuclear factor(NF)-κB/cyclooxygenase 2(COX2)/NOD-like receptor thermal protein domain associated protein 3(NLRP3) pathway proteins in the hippocampus of both male and female mouse models. The antidepressant effects of RRR were more pronounced in depression female mice with Yin deficiency and internal heat syndrome, possibly due to the improvement of neuronal damage and enhancement of neuroplasticity. The antidepressant mechanisms of RRR for depression with Yin deficiency and internal heat syndrome may be associated with the downregulation of the NF-κB/COX2/NLRP3 pathway to reduce neuronal damage and enhance neuroplasticity.

Two putative novel serotypes of Tibet orbivirus isolated from Culicoides spp.in Yunnan, China

Tibet orbivirus (TIBOV) was identified as a novel orbivirus in 2014. Antibodies against TIBOV were detected in cattle, Asian buffalo, and goats, while all the sequenced TIBOV strains were isolated from mosquitos and Culicoides. The known TIBOV strains have been classified into four putative serotypes. In this study, two TIBOV strains isolated from Culicoides spp. in Shizong County of Yunnan Province, China, were fully sequenced. The phylogenetic analysis of outer capsid protein 2 (VP2) indicated that these two viral strains belong to two novel putative serotypes of TIBOV. The updated putative serotypes may help in an investigation of the distribution and virulence of TIBOV.

Sperm-specific protein ACTL7A as a biomarker for fertilization outcomes of assisted reproductive technology / 亚洲男科学杂志(英文版)

Obtaining high-quality embryos is one of the key factors to improve the clinical pregnancy rate of assisted reproductive technologies (ART). So far, the clinical evaluation of embryo quality depends on embryo morphology. However, the clinical pregnancy rate is still low. Therefore, new indicators are needed to further improve the evaluation of embryo quality. Several studies have shown that the decrease of sperm-specific protein actin-like 7A (ACTL7A) leaded to low fertilization rate, poor embryo development, and even infertility. The aim of this study was to study whether the different expression levels of ACTL7A on sperm can be used as a biomarker for predicting embryo quality. In this study, excluding the factors of severe female infertility, a total of 281 sperm samples were collected to compare the ACTL7A expression levels of sperms with high and low effective embryo rates and analyze the correlation between protein levels and in-vitro fertilization (IVF) laboratory outcomes. Our results indicated that the ACTL7A levels were significantly reduced in sperm samples presenting poor embryo quality. Furthermore, the protein levels showed a significant correlation with fertilization outcomes of ART. ACTL7A has the potential to be a biomarker for predicting success rate of fertilization and effective embryo and the possibility of embryo arrest. In conclusion, sperm-specific protein ACTL7A has a strong correlation with IVF laboratory outcomes and plays important roles in fertilization and embryo development.

Relationship between Water Temperature and Floating Time of Aquatic Cadavers / 法医学杂志

OBJECTIVES@#To study the relationship between water temperature and floating time of aquatic cadavers, providing a reference for more precise positioning and searching for floating corpses.@*METHODS@#The floating model of guinea pig after drowning at 17-30 ℃ was established, and the floating times of carcasses were recorded. The collected data of 32 floating corpse cases in the Pearl River were sorted out and analyzed according to the floating time of corpses corresponding to each degree of water temperature. The relationship models between water temperature and the floating time of guinea pig carcass, and between that and the floating time of real cases were established.@*RESULTS@#The floating time of the cadaver was negatively correlated with water temperature. The power function fitting equation of the relationship between floating time and water temperature of guinea pig carcass was y=1×1015x-10.530(R2=0.871, P<0.01), and the power function fitting equation of the relationship between corpse floating time and water temperature was y=3×106x-3.467(R2=0.802, P<0.01).@*CONCLUSIONS@#It is found that average floating cadaver time has a power function with water temperature, which provides a reference for locating floating cadavers and establishing search models.

Value of contrast-enhanced ultrasound in diagnosis of malignant endometrial lesions / 中华超声影像学杂志

Objective:To investigate the value of contrast-enhanced ultrasound (CEUS) in the diagnosis of malignant endometrial lesions.Methods:A total of 142 patients with endometrial lesions who underwent contrast-enhanced ultrasound examination in Beijing Tiantan Hospital, Capital Medical University from January 2019 to September 2021 were selected. The endometrial lesions were divided into benign group (including endometrial hyperplasia and endometrial polyps) and malignant group (endometrial cancer) according to the pathological results of surgery, and the differences of contrast enhancement patterns between benign group and malignant group were compared. The sensitivity, specificity of CEUS in the diagnosis of endometrial cancer were calculated, and the Kappa value was calculated with the initial enhancement time earlier than or equal to the muscularity or the peak time earlier than the muscularity as the diagnostic index for the diagnosis of endometrial malignant lesions. The sensitivity, specificity, and Kappa value of CEUS in the diagnosis of endometrial cancer and endometrial cancer with thickness ≥10 mm were calculated.Results:A total of 108 patients underwent surgery with clear pathological results, including 66 patients in the benign lesion group and 42 patients in the malignant lesion group. The thickness of malignant lesions was significantly larger than that of benign lesions, and the difference was statistically significant( t=4.039, P<0.05), but there was no significant difference of hemodynamic parameters between the two groups ( P>0.05). The initial enhancement time, peak time and peak intensity of benign lesions were significantly different from those of malignant lesions(all P<0.05). The sensitivity, specificity, and Kappa value of CEUS in the diagnosis of endometrial cancer were 64.3%, 100% and 0.668, respectively. The sensitivity, specificity and Kappa value of CEUS in the diagnosis of endometrial carcinoma with lesion thickness ≥10 mm were 75.0%, 100% and 0.795, respectively. Conclusions:For the diagnosis of endometrial lesions, especially the malignant endometrial lesions with thickness and diameter greater than or equal to 10mm, there is a high diagnostic coincidence rate between CEUS and pathological diagnosis, and endometrial malignant lesions have more specific CEUS manifestations.

Ultrasound characteristics and diagnostic model prediction of benign and malignant endometrial lesions in elderly women / 中华老年医学杂志

Objective:To investigate the ultrasound characteristics of benign and malignant endometrial lesions in postmenopausal women terminology.Methods:Patients with endometrial lesions who underwent transvaginal ultrasound examination in Beijing Tiantan Hospital affiliated to Capital Medical University from January 2019 to November 2021 were selected.Pathological diagnosis after surgery was used as the gold standard, and endometrial lesions were divided into a benign group(including endometrial hyperplasia and endometrial polyps)and a malignant group(endometrial cancer)according to surgical pathology results.Endometrial thickness and Doppler flow parameters were compared between the benign group and the malignant group.The chi-square test was used to compare the echogenicity, the presence or absence of cystic areas, the integrity of the endometrial-myometrial junction, the blood flow score, and the blood supply vessels between the benign and malignant groups.A prediction model was established according to the ultrasonic characteristics.Results:A total of 136 participants received surgery at our hospital with definitive pathological diagnoses, including 72 patients in the benign group and 64 patients in the malignant group.Peak systolic velocity(PSV) and end diastolic velocity(EDV) in malignant lesions were higher than those in benign lesions[(28.75±14.66)cm/s vs.(22.94±13.62)cm/s, (14.75±8.10)cm/s vs.(11.56±6.21)cm/s]. The thickness of malignant lesions was significantly greater than that of benign lesions[(19.31±8.97)mm vs.10.14±4.31)mm], and the blood flow resistance index was lower than that of benign lesions(14.75±8.10 vs.11.56±6.21). The differences were statistically significant( t=2.393, 2.597, 7.452, 2.028, all P<0.05). The prediction model was established based on the above ultrasonic characteristics.The area under the ROC curve for ultrasound physicians to diagnose benign and malignant endometrial lesions was 0.905( P<0.001), indicating that the prediction model had high diagnostic value. Conclusions:Both benign and malignant endometrial lesions in postmenopausal women have different ultrasonic characteristics.Malignant lesions tend to have a larger lesion thickness, an interrupted or irregular endometrial-myometrial junction, higher blood flow signal scores, and multiple blood supply patterns.The ultrasonic prediction model has high diagnostic value for benign and malignant endometrial lesions.

Research progress on detection methods for nitrobenzene compounds in air / 中国职业医学

@#Abstract: Nitrobenzene compounds (NBCs) are widely used in the world. It has 40 isomers such as nitrobenzene, dinitrobenzene and nitrotoluene, that are highly toxic and difficult to degrade and can cause harm to human health in different degrees. At pres⁃ ent, there is no unified standard method and occupational exposure limit for the detection of NBCs in the air. In terms of sampling medium, solid adsorption tube is mostly used for trapping vapor state NBCs, and filter membrane and solid adsorption tube are mostly used in series for sampling coexist NBCs in vapor state and aerosol state. In the detection methods, gas chromatography and liquid chromatography are common, and ultraviolet spectrophotometry, Raman spectroscopy, ion migration spectrometry and some other rapid response methods and technologies are also used in the detection of NBCs. In the detection of NBCs by gas chro⁃ matography, capillary column separation is commonly used, and the main detectors are flame ionization detector, electron capture detector and mass spectrometry detector. It is of practical significance to establish a method with high sensitivity, strong practica⁃ bility, convenient operation, and can simultaneously collect and detect a variety of NBCs in different states.

Determination of dimethyl sulfate in workplace air by pre-column derivatization-high performance liquid chromatography / 中国职业医学

@#Abstract: Objective - - To establish a pre column derivatization high performance liquid chromatography method for detecting Methods dimethyl sulfate (DMS) in workplace air. DMS in workplace air was collected with mercaptopyridine impregnated （ silicone tube. The derivative of DMS and mercaptopyridine was eluted by mobile phase phase A: water, phase B: acetonitrile, ∶ the volume ratio was 40 60) , and separated with a C18 column, then detected with diode array detector and quantitated by a Results - standard curve. The linear range of DMS was 0.17 40.00 mg/L, with the correlation coefficient of 0.999 95. The detection limit and the lower limit of quantitation were 0.05 and 0.17 mg/L respectively. The minimum detection concentration and minimum quantitation concentration were 0.02 and 0.04 mg/m³, respectively (air sample volume of 4.5 L, 1.0 mL sample - - - solution). The average desorption efficiency was 98.40% 102.00%. The within run and between run relative standard deviations - - were 0.61% 3.92% and 1.71% 6.00%, respectively. The samples could be stored at room temperature for at least 14 days. Conclusion This method can be used to detect DMS in workplace air.

Effect of melittin on programmed necrosis of human hepatocellular carcinoma cell line SMMC￣7721 / 解剖学报

Objective To investigate the lethal effect of melittin on human hepatocellular carcinoma cell line SMMC-7721 and its possible mechanism. Methods MTT assay was used to investigate the killing effect of different concentrations melittin on human hepatocellular carcinoma cells SMMC-7721. Meanwhile, the inhibitory effect of specific programmed necrosis inhibitors necrostain-1(Nec-1) on melittin killing SMMC-7721 cells was detected. Programmed cell necrosis observed by Hoechst 33342 and PI double staining. The necrotosis rate was detected by flow cytometry. Ultrastructural changes of cell was detected by transmission electron microscopy. The expression of receptor interacting protein 1(RIP1) was detected by Western blotting. Results Compared with the control group, the proliferation activity of SMMC-7721 cells was significantly decreased after treatment with different concentrations of melittin for 24 hours (P < 0. 05) . Cells stained in dark blue and red. Cell membrane integrity was destroyed, organelle swelling, organelle membrane was destroy, that demonstrates cell was necrosis. Westen blotting result showed an increased proportion of RIP1 expression in SMMC-7721 cells. Compared with the melittin group, cell proliferation activity was significantly increased, cell necrotosis rate was decreased, and intracellular RIP1 expression was down-regulated in the Nec-1 pretreatment group. Conclusion Melittin induces cell death in SMMC-7721 cells through the RIP1-mediated programmed necrosis pathway.

A comparative study of International Ovarian Tumor Analysis simple rules and different levels of physicians in judging benign and malignant ovarian tumors / 中华超声影像学杂志

Objective:To explore the value of different levels of sonographers and International Ovarian Tumor Analysis (IOTA) simple rules in judging benign and malignant ovarian tumors.Methods:The ultrasound images of 182 patients treated in Beijing Tiantan Hospital, Capital Medical University from January 2017 to November 2020 with ovarian tumors were retrospectively analyzed. The ovarian tumors were diagnosed by two senior sonographers and two junior sonographers without knowing the pathological diagnosis. Another junior sonographer trained in IOTA terminology and simple rules applied IOTA simple rules to diagnose 182 ovarian tumors. The sensitivity, specificity, positive predictive value and negative predictive value of the diagnosis of ovarian tumors by senior sonographers, junior sonographers and IOTA simple rules were calculated using the postoperative pathological diagnosis as the gold standard. The Kappa value was calculated for the consistency between different levels of sonographers and the IOTA simple rules and pathological diagnosis.Results:Of the 182 cases, 61 cases were pathologically benign and 121 cases were pathologically malignant. The diagnostic sensitivity, specificity and accuracy of senior sonographers were 93.4%, 99.2%, 97.2%, respectively, Kappa value was 0.938. The diagnostic sensitivity, specificity, and accuracy of junior sonographers were 80.3%, 90.0%, 86.8%, respectively, Kappa value was 0.704. The diagnostic sensitivity, specificity and accuracy of IOTA simple rules(When an uncertain tumor was classified as malignant) were 95.0%, 73.5%, 80.7%, respectively, Kappa value was 0.614. The diagnostic sensitivity, specificity and accuracy of IOTA simple rules(when an uncertain tumor was excluded) were 94.2%, 90.9%, 92.0%, respectively, Kappa value was 0.834.Conclusions:IOTA simple rules is a very useful diagnostic tool for junior sonographers to judge benign and malignant ovarian tumors. When IOTA simple principle is judged as an uncertain case, it is recommended to refer to experienced senior sonographers for further diagnosis.

Neuronal Autophagy in Depression and Regulatory Effect of Traditional Chinese Medicine： A Review / 中国实验方剂学杂志

Depression is a mental illness characterized by persistent negative feelings， which has seriously threatened people's health. In recent years， neuronal autophagy， an important stress response， has also been regarded as a hypothesis for the pathogenesis of depression. Relevant studies have shown that either insufficient or excessive autophagy triggers neuronal damage， and activated or inhibited neuronal autophagy can be observed in animal models of depression. Therefore， neuronal autophagy may be a double-edged sword involved in the pathogenesis of depression. It is believed in traditional Chinese medicine （TCM） that the occurrence of this disease is closely related to liver depression and spleen deficiency. Chinese medicine regulates the neuronal autophagy via multiple ways. The TCM monomers that regulate neuron autophagy are capable of protecting nerves or penetrating the blood-brain barrier. TCM compounds designed for soothing liver or invigorating spleen have been proved effective against this disease， demonstrating that the core pathogenesis of depression lies in liver depression and spleen deficiency. The regulatory effects of TCM on neuronal autophagy in depression models might result from its action on multiple targets， multiple pathways， and multiple systems. This paper discussed the limitations in current research based on the involvement of neuronal autophagy in depression and its treatments， in order to provide ideas for later similar research and that concerning TCM treatment of depression.

Transcranial sonography in differential diagnosis of Parkinson disease and other movement disorders / 中华医学杂志(英文版)

BACKGROUND@#Reports evaluating the efficacy of transcranial sonography (TCS) for the differential diagnosis of Parkinson disease (PD) and other movement disorders in China are scarce. Therefore, this study aimed to assess the application of TCS for the differential diagnosis of PD, multiple system atrophy (MSA), progressive supranuclear palsy (PSP), and essential tremor (ET) in Chinese individuals.@*METHODS@#From 2017 to 2019, 500 inpatients treated at the Department of Dyskinesia, Beijing Tiantan Hospital, Capital Medical University underwent routine transcranial ultrasound examination. The cross-sections at the midbrain and thalamus levels were scanned, and the incidence rates of substantia nigra (SN) positivity and the incidence rates of lenticular hyperechoic area were recorded. The echo of the SN was manually measured.@*RESULTS@#Of the 500 patients, 125 were excluded due to poor signal in temporal window sound transmission. Among the 375 individuals with good temporal window sound transmission, 200 were diagnosed with PD, 90 with ET, 50 with MSA, and 35 with PSP. The incidence rates of SN positivity differed significantly among the four patient groups (χ2 = 121.061, P  0.017).@*CONCLUSION@#SN positivity could effectively differentiate PD from ET, PSP, and MSA in a Chinese population.

Correlation between the characteristic of intraoperative contrast enhanced ultrasound and expression of isocitrate dehydrogenase 1 in glioblastoma / 中华超声影像学杂志

Objective:To explore the correlation between the characteristics of contrast-enhanced sonography of intraoperative glioblastoma multiform (GBM) and molecular markers of isocitrate dehydrogenase-1(IDH1).Methods:A retrospective analysis were performed in 30 patients who underwent neurosurgery and pathologically confirmed to be GBM at Beijing Tiantan Hospital from May 2018 to April 2019. All neurosurgical glioblastoma patients after craniotomy underwent conventional ultrasound and contrast-enhanced ultrasound(CEUS) guided navigation. The characteristics of the ultrasound imaging (whether the tumor involves the structure of the corpus callosum, the clarity of the tumor boundary after enhanced ultrasound and whether the tumor has necrotic areas with enhanced ultrasound images) were analyzed. The ratio between tumor necrosis area and whole tumor area (N/W) was measured, and the correlation with IDH1 gene expression was analyzed.Results:There were statistical differences in clarity of tumor boundary after CEUS and tumor necrosis after CEUS between positive IDH1 and negative IDH1 groups(all P<0.05). The positive expression of IDH1 was negatively correlated with the N/W area of the contrast-enhanced ultrasound mode( r=-0.756, P<0.05), suggesting that the expression level of IDH1 gene was negatively correlated with the area of tumor necrosis. Conclusions:Ultrasound contrast agent examination can more accurately distinguish the active proliferation area, hemorrhagic necrosis area and peripheral edema area of glioblastoma. Accurately identifying the extent of tumor necrosis area through ultrasound contrast agent examination can predict expression of IDH1.

Preimplantation Genetic Diagnosis of α/β Complex Thalassemia by Next Generation Sequencing / 中国实验血液学杂志

OBJECTIVE@#To explore the application value of next generation sequencing (NGS) in preimplantation genetic diagnosis of α/β complex thalassemia couple.@*METHODS@#The coding regions of α-globin genes (HBA1, HBA2) and β-globin gene (HBB) were selected as the target regions. The high-density and closely linked single nucleotide polymorphism (SNP) sites were selected as the genetic linkage markers in the upstream and downstream 2M regions of the gene. After NGS, the effective SNP sites were selected to construct the haplotype of the couple, and the risk chromosome of the mutation carried by the couple was determined. The NGS technology was used to sequence the variations of HBA1, HBA2 and HBB directly and construct haplotype linkage analysis for preimplantation genetic diagnosis.@*RESULTS@#Direct sequencing and haplotype linkage analysis of HBA1, HBA2 and HBB showed that two of the six blastocysts were α/β complex thalassemia, one was β-thalassemia heterozygote, two were α-thalassemias heterozygotes, and one was intermediate α-thalassemia. A well-developed embryo underwent preimplantation genetic diagnosis was implanted into the mother's uterus, and a healthy infant was born at term.@*CONCLUSION@#Preimplantation genetic diagnosis can be carried out by NGS technology in α/β complex thalassemia couples, and abortion caused by aneuploid embryo selection can be avoided.

Effect of muscle relaxants on the prognosis of neonates with congenital esophageal atresia-tracheoesophageal fistula after surgery / 中国当代儿科杂志

OBJECTIVE@#To summarize the experience in the application of muscle relaxants in the perioperative period in neonates with congenital esophageal atresia-tracheoesophageal fistula (EA-TEF).@*METHODS@#A retrospective analysis was performed on the medical data of 58 previously untreated neonates with EA-TEF who were treated in the Neonatal Center of Beijing Children's Hospital, Capital Medical University from 2017 to 2019. The incidence rate of anastomotic leak was compared between the neonates receiving muscle relaxants for different durations after surgery (≤ 5 days and > 5 days). The correlation between the duration of postoperative use of muscle relaxants and the duration of mechanical ventilation was evaluated.@*RESULTS@#Among the 58 neonates with EA-TEF, 44 underwent surgery, among whom 35 with type III EA-TEF underwent thoracoscopic surgery. Among these 35 neonates, 30 (86%) received muscle relaxants after surgery, with a median duration of 4.75 days, and 6 (18%) experienced anastomotic leak. There was no significant difference in the incidence rate of anastomosis leak between the ≤ 5 days and > 5 days groups (@*CONCLUSIONS@#Prolonged use of muscle relaxants after surgery cannot significantly reduce the incidence of anastomotic leak, but can prolong the duration of invasive mechanical ventilation in neonates with EA-TEF. Therefore, prolonged use of muscle relaxants is not recommended after surgery.