Prenatally detected six duplications at Xp22.33-p11.22: a case report.

BACKGROUND: The discrepancy between the results of cytogenetics and the results of chromosome microarray analysis (CMA) has often led to confusion over genetic counselling for prenatal diagnosis. CASE PRESENTATION: The prenatal ultrasound results of a congenital heart defect (CHD) foetus displayed an apartial endocardial pad defect and permanently dilated coronary sinus and left superior vena cava at 21 weeks of gestation. Cytogenetic analysis, CMA, fluorescent in situ hybridization (FISH) and multiplex ligation-dependent probe amplification (MLPA) with foetal cord blood samples were used to detect the genetic aetiology. Routine G-binding cytogenetic analysis showed normal karyotypes in both the foetus' and parents' blood samples. CMA results demonstrated that there were 53.973-Mb recurrent CNVs at Xp22.33-p11.22, as confirmed by MLPA assay. CONCLUSIONS: Herein, we described the CNV of six duplications at Xp22.33-p11.22 and the 53.973 Mb duplication CNV that was not found in foetal cord blood samples by conventional cytogenetic methods, and it was confirmed by CMA and MLPA. Our novel findings will provide helpful information for prenatal diagnosis and genetic counselling for foetal CHDs.

Effects of electroacupuncture preconditioning on microglial cells and serum inflammatory factors in the early stage of ischemic stroke. / ç”µé’ˆé¢„å¤„ç†å¯¹ç¼ºè¡€æ€§ä¸­é£Žå°é¼ æ—©æœŸå°èƒ¶è´¨ç»†èƒžåŠè¡€æ¸ ç‚Žæ€§å› å­çš„å½±å“.

OBJECTIVES: To investigate the effects on the motor function, cortex blood flow perfusion, microglial cells, and the contents of serum inflammatory factors, i.e. interleukin-1ß (IL-1ß), transforming growth factor-ß (TGF-ß), and interleukin-10 (IL-10) after electroacupuncture (EA) preconditioning at "Baihui" (GV20) and "Dazhui" (GV14) in the mice with ischemic stroke, so as to explore the mechanism of EA preconditioning for improving motor function after ischemic stroke. METHODS: C57BL/6 mice were randomly divided into sham-operation group, model group, and EA preconditioning group (EA group), with 15 mice in each group. A photothrombotic method was used to induce the model of unilateral ischemic stroke and motor impairment. The mice in the EA group received EA preconditioning, 20 min each time, once daily for 7 consecutive days before modeling. The motor function of mice was evaluated by the grid-walking test and cylinder test before and after modeling. Laser speckle blood flow video monitoring system was employed to assess the cerebral blood flow perfusion in the primary motor cortex of mice. The contents of IL-1ß, TGF-ß, and IL-10 in the serum were measured by ELISA, and the expressions of microglial cell and M2 subtype cell marker in the primary motor cortex were detected using immunofluorescence staining. RESULTS: After modeling, compared with the sham-operation group, the grid error rate and the dragging rate of the affected limb were increased (P<0.01)；the utilization rate of the affected limb and percentage of the blood perfusion in the affected cortex to healthy side were decreased (P<0.01)；the contents of serum IL-1ß, TGF-ß, and IL-10 were increased (P<0.01, P<0.05)；and the microglia in the primary motor cortex on the affected side showed ameboid, the fluorescence intensity of ionized calcium-binding adapter molecule 1 (IBA1) and CD206 was increased (P<0.01) in the model group. In the EA group, when compared with the model group, the grid error rate and the dragging rate of affected limb were decreased (P<0.01)；the utilization rate of affected limb and the percentage of blood perfusion were increased (P<0.05)；the content of serum IL-1ß was decreased (P<0.01), while the contents of TGF-ß and IL-10 were increased (P<0.01)；and the microglia in the primary motor cortex on the affected side got more round and were distributed more densely, the fluorescence intensity of IBA1 and CD206 was increased (P<0.01). CONCLUSIONS: Electroacupuncture preconditioning at "GV20" and "GV14" can up-regulate the expression of microglial cells, especially the M2 subtype cell marker, and increase the contents of the anti-inflammatory factors and decrease that of the pro-inflammatory factors in the serum, thereby alleviate the inflammatory reaction.

Electroacupuncture improves swallowing function in a post-stroke dysphagia mouse model by activating the motor cortex inputs to the nucleus tractus solitarii through the parabrachial nuclei.

As a traditional medical therapy, stimulation at the Lianquan (CV23) acupoint, located at the depression superior to the hyoid bone, has been shown to be beneficial in dysphagia. However, little is known about the neurological mechanism by which this peripheral stimulation approach treats for dysphagia. Here, we first identified a cluster of excitatory neurons in layer 5 (L5) of the primary motor cortex (M1) that can regulate swallowing function in male mice by modulating mylohyoid activity. Moreover, we found that focal ischemia in the M1 mimicked the post-stroke dysphagia (PSD) pathology, as indicated by impaired water consumption and electromyographic responses in the mylohyoid. This dysfunction could be rescued by electroacupuncture (EA) stimulation at the CV23 acupoint (EA-CV23) in a manner dependent on the excitatory neurons in the contralateral M1 L5. Furthermore, neuronal activation in both the parabrachial nuclei (PBN) and nucleus tractus solitarii (NTS), which was modulated by the M1, was required for the ability of EA-CV23 treatment to improve swallowing function in male PSD model mice. Together, these results uncover the importance of the M1-PBN-NTS neural circuit in driving the protective effect of EA-CV23 against swallowing dysfunction and thus reveal a potential strategy for dysphagia intervention.

Contralateral S1 function is involved in electroacupuncture treatment-mediated recovery after focal unilateral M1 infarction.

Acupuncture at acupoints Baihui (GV20) and Dazhui (GV14) has been shown to promote functional recovery after stroke. However, the contribution of the contralateral primary sensory cortex (S1) to recovery remains unclear. In this study, unilateral local ischemic infarction of the primary motor cortex (M1) was induced by photothrombosis in a mouse model. Electroacupuncture (EA) was subsequently performed at acupoints GV20 and GV14 and neuronal activity and functional connectivity of contralateral S1 and M1 were detected using in vivo and in vitro electrophysiological recording techniques. Our results showed that blood perfusion and neuronal interaction between contralateral M1 and S1 is impaired after unilateral M1 infarction. Intrinsic neuronal excitability and activity were also disturbed, which was rescued by EA. Furthermore, the effectiveness of EA treatment was inhibited after virus-mediated neuronal ablation of the contralateral S1. We conclude that neuronal activity of the contralateral S1 is important for EA-mediated recovery after focal M1 infarction. Our study provides insight into how the S1-M1 circuit might be involved in the mechanism of EA treatment of unilateral cerebral infarction. The animal experiments were approved by the Committee for Care and Use of Research Animals of Guangzhou University of Chinese Medicine (approval No. 20200407009) April 7, 2020.

Cigarette Smoking and Risk of Different Pathologic Types of Stroke: A Systematic Review and Dose-Response Meta-Analysis.

OBJECTIVES: To quantify the association of cigarette smoking, including cigarettes per day and quitting duration, with the risk of different types of stroke morbidity and mortality in the general population, and to clarify the shape of the dose-response relations. STUDY SELECTION: Prospective cohort studies and reported on the association between smoking, quitting and the incidence or mortality of stroke were included. DATA EXTRACTION AND SYNTHESIS: All available data were converted uniformly to odds ratios (ORs) and were pooled using random-effects meta-analysis with inverse variance weighting. A dose-response meta-analysis was performed to explore the quantitative relationship between different smoking characteristics and the risk of different pathologic types of stroke incidence. RESULTS: Twenty-five studies with 3,734,216 individuals were included. Compared to never smokers, the pooled ORs of stroke morbidity and mortality were 1.45 (1.24-1.70) and 1.44 (1.23-1.67) among ever smokers and 1.90 (1.55-2.34) and 1.70 (1.45-1.98) among current smokers. The risk of different pathologic types of stroke was also increased among ever and current smokers. There was a significant non-linear dose-response association between the number of cigarette smoking and the risk of stroke incidence. Comparing no smoking, the ORs for smoking five and 35 cigarettes per day were 1.44 (1.35-1.53) and 1.86 (1.71-2.02). Other pathologic types of stroke have a similar dose-response relationship. There was also non-linear dose-response association between the length of time since quitting and risk of stroke. The risk of stroke decreased significantly after quitting for 3 years [OR = 0.56 (0.42-0.74)]. CONCLUSION: The risk of different types of stroke among smokers is remarkably high. Our findings revealed a more detailed dose-response relationship and have important implications for developing smoking control strategies for stroke prevention. SYSTEMATIC REVIEW REGISTRATION: https://inplasy.com/inplasy-2020-6-0062/, identifier: INPLASY202060062.

[Study of setting of ventilator volume tidal and airway pressure alarm threshold with continuous extra-sternum heart compression in cardiopulmonary resuscitation].

OBJECTIVE: To investigate the setting of ventilator volume tidal (VT) and airway pressure alarm threshold during cardiopulmonary resuscitation (CPR) by continuous extra-sternum heart compression. METHODS: Forty cases with respiration and cardiac arrest in the department of critical care medicine were randomly divided into low VT ventilation group and conventional VT group. Both groups were given the volume control mode. In the low VT ventilation group, VT was set on 6 - 7 ml/kg, and high pressure alarm threshold was adjusted to 60 cm H2O by the conventional 40 cm H2O during CPR. In the conventional VT group, VT and high pressure alarm threshold were set at 8 - 12 ml/kg and 40 cm H2O, respectively. Real-time actual VT, peak inspiratory pressure (PIP), and arterial blood gas test, blood lactic acid at 10 minutes and 30 minutes after CPR were observed. RESULTS: At 10 minutes after CPR, in the low VT ventilation group, arterial blood pH, arterial partial pressure of oxygen (PaO2), arterial partial pressure of carbon dioxide (PaCO2), HCO3(-), arterial oxygen saturation (SaO2) and blood lactic acid were better as compared with those in the conventional VT ventilation group (pH: 7.21±0.09 vs. 7.13±0.07, PaO2: 45.35±5.92 mm Hg vs. 40.70±4.70 mm Hg, PaCO2: 57.10±7.59 mm Hg vs. 61.60±5.47 mm Hg, HCO3(-): 18.50±3.50 mmol/L vs. 14.75±2.65 mmol/L, SaO2: 0.796±0.069 vs. 0.699±0.066, blood lactic acid: 7.07±1.60 mmol/L vs. 8.13±1.56 mmol/L, all P<0.05). The success rate of resuscitation in the low VT ventilation group was higher than that of the conventional VT ventilation group (45% vs. 15%, P<0.05), and PIP (cm H2O) of low VT ventilation group was lower than that of the conventional VT group (37.25±7.99 cm H2O vs. 42.70±7.40 cm H2O, P<0.05). In all the patients in both groups barotrauma did not occur. CONCLUSION: The strategy of low ventilator VT (6 - 7 ml/kg) with appropriate elevation of airway pressure alarm threshold was better than that of conventional ventilation setting, with no increase in incidence of barotraumas during CPR.