OBJECTIVETo analyze clinical and imaging features and genetic characteristics of Leigh syndrome with emergent pulmonary edema.

METHODThe clinical features and imaging data of 2 cases (1 male, 1 female) seen in Anhui Provincial Children's Hospital from 2012 to 2014 were analyzed and summarized. Venous blood samples were sent to Guangzhou Jinyu Medical Examination Center for genetic analysis. Peripheral blood DNA was extracted and amplified, then sent to a sequencing facility for presence of genetic mutation by comparing with the reference sequence (NC_012920.1).

RESULT(1) The first patient was a 7 months old boy. The second patient was a 7 months and 21 days old girl. They were presented with abnormal respiration and pulmonary hemorrhage required mechanical ventilation. The first patient had a similar attack after 4 months of his birth, whose psychomotor development was normal, and no abnormal neurological findings. The value of blood lactate was 1.58 mmol/L. The value of pyruvic acid was 0.25 mmol/L. The value of cerebrospinal fluid lactate was 6. 4 mmol/L, which was an abnormal increase. The second patient had abnormal nervous system development, which included motor development retardation and hypotonia. The value of blood lactate was 6. 8 mmol/L, pyruvic acid was 0.31 mmol/L. Cerebrospinal fluid lactate was 8.2 mmol/L. (2) Imaging data: chest X-ray revealed double lung effusion. Bilateral caudate nucleus and lentiform nucleus had high signal, and bilateral internal capsule forelimbs were affected in DWI sequence of head MRI. Hemispheres, basal ganglia, cerebral peduncle, cerebellum, pons, and splenium of corpus callosum had multiple abnormal signals in head MRI of the second patient. NAA peak showed significantly reduced lesion area in magnetic resonance blood-flow scanning, and Cho peak increased significantly, which were double lactate-peak. (3) Genetic testing: ATPase6 m.9185 t > C mutation was found in case 1 that was consistent with Leigh syndrome pathogenesis. Hybrid mutations (m. 10191 t > C) in mitochondrial DNA was found in case 2. Two cases with the diagnosis of Leigh syndrome was clear. They were given combined therapy, such as mechanical ventilation, limited fluid to alleviate lung exudation, coenzyme Q10, and L-carnitine. The illness of case 1 relapsed after discharge. But in case 2, there was no improvement. They both died after treatment was given up.

CONCLUSIONNeurological symptoms were common in Leigh syndrome, in which acute lung hemorrhage was rarely reported. Timely ventilator support can temporarily save lives, but fatality rate is high and prognosis is poor.

Brain ; pathology ; Carnitine ; therapeutic use ; DNA, Mitochondrial ; Female ; Genetic Testing ; Hemorrhage ; etiology ; Humans ; Infant ; Lactic Acid ; Leigh Disease ; complications ; genetics ; Lung Diseases ; etiology ; Magnetic Resonance Imaging ; Male ; Mutation ; Pyruvic Acid

Objective To observe the effects of metformin on expression of Adenosine 5'-monophosphate (AMP)-activated protein kinase (AMPK),nuclear factor-κB (NF-κB) and transforming growth factor β1 (TGF-β1) in cultured rat glomerular mesangial cells (MCs),and explore its renoprotective mechanisms.Methods MCs were cultured in the medium with normal glucose (group NG,5.6 mmol/L),high glucose (group HG,25mmol/L) and different concentrations of metformin (group M1,M2,M3).After 48 h exposure,the supernatants and MCs were collected.The expression of NF-κB and TGF-β1 mRNA was analyzed by real time-PCR.Total-AMPK,phospho-Thr-172 AMPK (p-AMPK),NF -κB p65 and TGF-β1 were visualized by Western blot.Results The real time-PCR and Western blot result showed MCs could express AMPK,NF-κB and TGF-β1 mRNA and protein.After stimulated by HG,the levels of intracellular NF-κB and TGF-β1 expressions were significantly increased compared with group NG (P ＜ 0.05); The levels of NF-κB and TGF-β1 were significantly decreased in group M1,M2 and group M3 compared with group HG in a dose-dependent manner.After stimulated by HG,the level of intracellular p-AMPK were down-regulated compared with group NG(all P ＜ 0.05); The expression of p-AMPK increased with the rising of metformin concentration,presenting the opposite trend (P ＜ 0.05),while the level of total-AMPK protein was unchanged with exposure to HG or different concentrations of mefformin(P ＞ 0.05).Conclusion Metformin can suppress the expression of NF-κB and TGF-β1 of glomerular MCs induced by HG via AMPK activation,which may partly contribute to its reno-protection.

Objective To investigate the ultrasonic image characteristics of Zenker diverticulum(ZD).Methods The ultrasonographic features were summarized using the analysis confirmed by surgery pathology or X-ray imaging of the ZD in six eases.Results The diverticulum of Zenker located behind the thyroid gland in all the six cases,with five cases to the left and one to the right.The internal hyperechoic foci caused by air was found for all the six cases.The diverticulum wall appeared to be semicircular,narrow-band and acoustic halo low echo with an average thinckness of 0.53 mm.The Doppler sonogram of the six diverticulums showed no vascular signal.Conclusions The ZD had several unique characterisitics for identification by ultrasonic diagnosis,which included hyperechoic foci caused by air,internal changes of echo after drinking water and the special layered structure of the five-layer ZD wall.

Objective To analyze the abnormal fetal ductus arteriosus (DA) by echocardiography.Methods Seventy fetuses of abnormal DA diagnosed prenatally were retrospectively reviewed.Transverse scans combined with color Doppler were used to acquire four chamber view,left and right ventricular outflow tract views,three vessel view,and three-vesseltrachea view.In addition,sagittal scans with color Doppler were used to get vena cava long axis view,aortic arch view,and ductal arch view.The spatial relationship of the great arteries and trend of DA were observed.Results Abnormal fetal DA is mainly composed of DA absence,DA abnormal function and DA morphological abnormality.Among 70 cases of fetal DA,9 cases were diagnosed with DA absence,8 cases were DA atresia,11 cases were DA completed closure nearly,9 cases were shown with reverse DA blood perfusion,33 cases were shown with DA curvature and dilatation.Conclusion Prenatal diagnosis of DA absence and DA abnormal function is of great significance.Three-vessel-trachea view and ductal arch view combined with CDFI can make a definitive diagnosis.

Objective To explore the ultrasonographic method in fetal coronary sinus (CS) dilation.Methods Totally 145 normal fetuses (normal group) and 72 fetuses of CS dilation (CS group) diagnosed prenatally were retrospectively reviewed.The long axis of coronary sinus was displayed in the non-standard four chamber view and the area of the sagittal view of CS was measured.Transverses scans combined with color Doppler were used to acquire four chamber view,left and right ventricular outflow tract views,three vessel view.In addition,sagittal scans with color Doppler were used to get short-axis view at the level of great arteries,vena cava long axis view,aortic arch view,and ductal arch view.The characteristics of CS were observed.Results CS area of sagittal view was positively correlated with gestational age (normal group:r=0.954,P＜0.05;CSgroup:r=0.904,P＜0.05).In the samegestational weeks,the CS area of the sagittal view in the normal group was less than that in the CS group (all P＜0.01).In CS group,52 fetuses were persistent left superior vena cava,15 fetuses were total anomalous pulmonary venous connection,5 fetuses were associated with right heart pressure overload.Conclusion Fetal CS sagittal section area is positively correlated with gestational age.When the fetal heart ultrasonography found CS dilation,other intracardiac malformations should also be considered.The etilogies of CS dilation should be analyzed clinically through multi-slice,multi-angle scanning.

ObjectiveToinvestigatetheeffectandmechanismofaChinesetraditionalprescription,YuebiBanxia decoction, on allergic asthma in mice by observing the changes of serum immunoglobulin E ( IgE ) and lung tissue superoxide dismutase ( SOD) activity in the mouse model of allergic asthma .Methods Forty healthy Kunming mice were randomly divided into normal control group , asthma model group , dexamethasone intervention group and Chinese medicine preparation group .The mouse model of asthma was generated by peritoneal injection of ovalbumin ( OVA) and suspension of aluminium hydroxide .The mice of traditional Chinese medicine group received Yuebi Banxia decoction in a dose of 1 mL/100 g, daily for 30 days.The mice of dexamethasone group were given intraperitoneal injection of dexamethasone 1 mg/kg.The normal control group and asthma model group were given gastric gavage of physiological saline.After 30 days administration, the serum levels of IgE and SOD activity of lung tissue were determined , and the pathological changes of lung tissue were observed using HE staining .Results The mice of traditional Chinese medicine preparation group showed significantly decreased serum IgE level , and significantly increased SOD activity than those of the asthma model group mice (P<0.05 for both).Conclusions Reduced serum IgE and increased SOD activity in the lung tissue of mice with allergic asthma , improving the antioxidant ability of lung tissue , may be involved in the anti-allergic asthma mechanism of the Chinese traditional prescription Yuebi Banxia decoction .

BACKGROUND: Exosomes are nano-scale vesicles that can be secreted by almost all types of cells in the body, which can participate in multiple cell signaling pathways by transporting signal molecules, such as proteins, lipids and miRNAs to perform intercellular communication, immune responses, and antigen presentation. Therefore, exosomes have a great value in the clinical diagnosis and treatment of diseases. Of the cell types known to produce exosomes, mesenchymal stem cells are currently the most prolific producer closely related to the occurrence and development of neurodegenerative diseases. OBJECTIVE: To review the origin and biological characteristics of mesenchymal stem cell-derived exosomes, the isolation and identification methods of exosomes, and the progress of mesenchymal stem cell-derived exosomes in the treatment of neurodegenerative diseases. METHODS: The literature search was performed in PubMed and CNKI databases, and the keywords were "mesenchymal stem cells; exosomes; MSC-exosomes; neurodegenerative diseases" in Chinese and English, respectively. RESULTS AND CONCLUSION: A total of 61 eligible literatures were enrolled. Mesenchymal stem cell-derived exosomes have low immunogenicity and long-circulating half-life and can carry small molecular substances across the blood-brain barrier, which can promote nerve cell growth and neuronal differentiation. Mesenchymal stem cell-derived exosomes help damaged nervous system function and enhance vascular neurogenesis, which is becoming an emerging treatment for neurodegenerative diseases.

Objective To summarize and analyze the shielding,retention and reentry works of blood donors,and to investigate the feasibility of retention and reentry strategy.Methods The samples of ELISA single reagent reactive/NAT non-reactive and ELISA non-reactive/ NAT reactive were negative by confirmatory tests.Then the blood was weeded out and the donation qualification was reserved.The donors of shielding more than 6 months could propose the reentry application at any blood station in the province,and were allowed to return to the ranks after qualified by routine detection and re-detection by Jiangsu Provincial Blood Center.The unqualified rates were compared between the donors of again blood donation after retention and reentry with the common donors by χ2 test.Results From October 2014 to June 2016,1 615 cases were ELISA single reagent reactive/NAT non-reactive,among which 67 cases were confirmed as positive,42 cases were undetermined and 1 506 cases were negative;831 cases were ELISA non-reactive/ NAT reactive,in which 809 cases were positive by confirmation and 22 cases were negative.A total of 1 528 donors were confirmed as negative and their donation qualifications were reserved,89 donors conducted blood donation again and 79 were qualified in blood detection.The unqualified rate was 11.24%,compared with that of common donors,the difference was statistically significant(P<0.001).Meanwhile,596 donors applied for reentry,among them 218 persons were weeded out by the reentry blood station.In remaining 378 samples sent to Jiangsu Provincial Blood Center,359 samples were qualified and confirmed to the reentry condition.Among them,332 donors conducted blood donation and all were qualified by blood detection.Conclusion The reentry strategy in Jiangsu Province is reasonable and feasible,but the donors retention strategy needs to be further optimized and perfected.

Objective To investigate the total examinations of conventional X-ray diagnosis and CT diagnosis of radiation diagnosis and treatment institutions,in order to explore the distribution characteristic of radiological diagnosis frequency and diagnostic patients,and to estimate the application frequency of medical X-ray diagnosis in Heilongjiang province.Methods The questionnaire was sent to all radiation diagnosis and treatment institutions in forms of public document issued by the administrative department of health and family planning of Heilongjiang province.Basic situations and patient numbers of conventional X-ray diagnosis (interventional diagnosis not included) and CT diagnosis in 2016 were collected and summarized combined with sampled on-site verification.The application frequency of medical X-ray diagnosis was obtained using permanent resident population in Heilongjiang province in 2016.Results Totally 1 645 medical radiation institutions were investigated,including 81 tertiary hospitals,359 secondary hospitals,808 primary hospitals or unrated medical institutions,and 397 private dental clinics.The examinations of conventional X-ray diagnosis and CT diagnosis were 7 706 050 and 7 063 734,respectively.The application frequency of conventional X-ray diagnosis and CT diagnosis was 200.9 and 184.1 examinations per 1 000 population,respectively,and varied from 98.0 to 274.7 in different areas.The ratio of examinations in public medical institutions to that in private medical institutions was 7.47 ∶ 1.Conclusions 50％ of the total radiological diagnosis were made in tertiary hospitals,and only 13％ were made in medical institutions below primary in Heilongjiang.Meanwhile,although the number of public and private medical institutions was at the same scale,the total examination of radiological diagnosis in public medical institutions was 7 times of that in private medical institutions.The application frequency of conventional X-ray diagnosis and CT diagnosis in Heilongjiang province in 2016 was similar to that of Jiangsu province in 2015.

To investigate the risk factors and prognosis of acute kidney injury (AKI) in children with sepsis in pediatric intensive care unit (PICU). Methods A retrospective analysis of clinical data of PICU sepsis children in Anhui Children's Hospital from May 2015 to May 2018 was performed. The children were divided into AKI group and non-AKI group according to whether AKI occurred within 48 hours of PICU [referring to the diagnostic criteria for Kidney Disease: Improving Global Outcomes (KDIGO)]. The general data, physiological data and clinical outcomes of the two groups were compared; Logistic regression analysis was used to analyze the risk factors of AKI in children with sepsis and the prognostic factors. Results AKI occurred in 55 of 127 children with sepsis, the incidence of AKI was 43.3%, and the overall mortality was 28.3% (36/127), with 41.8% (23/55) in AKI group and 18.1% (13/72) in non-AKI group.① Compared with non-AKI group, oxygenation index, albumin, the pediatric critical illness case score (PCIS) and urine volume in AKI group were significantly decreased, while cystatin C, procalcitonin (PCT), prothrombin time (PT), activated partial thromboplastin time (APTT), pediatric multiple organ dysfunction score (P-MODS), the proportions of mechanical ventilation, vasoactive drug use, shock, septic shock and mortality were significantly increased, while there was no difference in age, gender, mean arterial pressure (MAP), white blood cell count (WBC) and C-reactive protein (CRP) between the two groups. Multivariate Logistic regression analysis showed that low serum albumin [odds ratio (OR) = 0.627, 95% confidence interval (95%CI) = 0.495-0.794, P = 0.000] and homocystatin C (OR = 2.641, 95%CI = 1.157-6.032, P = 0.021) were risk factors for AKI in children with sepsis. ② Compared with the survival group of children with sepsis AKI, the proportion of mechanical ventilation, septic shock, vasoactive drug use, positive balance ratio of liquid for 72 hours, 6-hour lactate clearance rate < 10%, and AKI 3-stage patients in the death group of children with sepsis AKI were significantly increased. Multivariate Logistic regression analysis showed that 72-hour positive liquid balance (OR = 8.542, 95%CI = 1.956-37.307, P = 0.004) and 6-hour lactate clearance rate < 10% (OR = 5.980, 95%CI = 1.393-25.676, P = 0.016) were risk factors for the death of children with sepsis AKI. Conclusions Serum albumin and cystatin C should be closely monitored in children with sepsis. Early detection and intervention of positive fluid balance and low lactate clearance rate can reduce the mortality of AKI in children with sepsis.