Bartter Syndrome ; complications ; physiopathology ; Hoarseness ; etiology ; Humans ; Infant ; Male

Encephalocele ; Humans ; Infant, Newborn ; Meningocele ; Nasopharynx

Objective:To report a rare case of early onset epileptic encephalopathy caused by YWHAG gene mutation, and discuss the clinical and genetic characteristics as well as the diagnosis, treatment and prognosis of the disease.Methods:Clinical data of the patient with YWHAG gene deficiency from Department of Neurology, Children′s Hospital Affiliated to Zhengzhou University were collected in January 2018. The whole exome sequencing was performed on the core members of the family, and the characteristics of gene mutations were analyzed.Results:The proband is a girl, three years and 10 months old, presented to the outpatient department of neurology with a history of six-month intermittent convulsions, manifested as epilepsy seizures, mental retardation, motor delay and gait instability, ataxia. The brain magnetic resonance imaging showed myelinated dysplasia, and long-term video electroencephalogram (EEG) showed extensive 1.5-3.0 Hz slow spikes, and multiple spikes during sleep. During the monitoring, the children had clinical seizures and abnormal EEG discharges, indicating that myoclonus was accompanied by atypical absence of consciousness. Whole exome sequencing on the proband detected a de novo mutation c.169C>T (p.Arg57Cys) in YWHAG gene. According to American College of Medical Genetics guidelines (2015), the mutation was considered potentially pathogenic.Conclusion:Early epileptic encephalopathy caused by YWHAG gene mutation is very rare, and the variation of YWHAG gene c.169C>T is the possible pathogenic variation of the genetic cause of early onset epileptic encephalopathy in the proband.

Adult ; Eye Injuries ; surgery ; Female ; Humans ; Orbital Fractures ; surgery

Female ; Humans ; Infant, Newborn ; Kidney Neoplasms ; Twins, Monozygotic ; Wilms Tumor

Brain Neoplasms ; pathology ; Glioma ; pathology ; Humans ; Infant, Newborn ; Male

To investigate effects of cultured astrocytes from Sprague Dawley rat cerebral cortex on the development of PC12 cellsderived from rat pheochromocytoma, PC12 cells were cocultured with astrocyte according to different astrocytes/neurons ratio(50:1～1:1) , or with serum-free conditioned medium of astrocytes(ACM). The vitality of PC12 cells was measured by sensi-tive MTT method and their morphologic features were observed by Olympus light microscope. The results showed: (1) WhenPC12 cells were cultured with ACM, compared with the control group, the vitality of PC12 cells was increased significantly (0.255+0. 012 vs 0. 510±0. 036, P<0. 001) and the morphological changes were not obvious in the experimental group. (2) WhenPC12 cells were cocultured with astrocyte in the ratio of 30: 1～1: 1, not only was the vitality of PC12 cells enhanced, but alsothe neurite-outgrowth of PC12 was observed. (3) When PC12 cells were cocuhured with astrocyte in proportion of 50: 10～40 : 1, the vitality of PC12 cells was also enhanced, but the neurite-outgrowth of PC12 was not found. This study suggested en-hancement of PC12 cell-vitality was mediated by soluble factors produced by astrocytes, while activity of the neurite-promotingwas associated with cell-cell contact and with the ratio of two cells.

OBJECTIVE To prevent occurrence of infection in clinical laboratory. METHODS The biosafety system was continuously improved and complet step by step and amplifed rules and regulation,done well protection of person,making the operating process of laboratory more norma,enforcing the air and environment,sterilizeing the equipment,detecting implement,disinfecting the used material and medical garbage and inspecting. RESULTS The hospital infection in laboratory was effectly controlled,the staff′s safety and health were addressd when they worked in an infected area of laboratory. CONCLUSIONS Amplifying the rules and regulation,and insisting the principle of work without slacking could effecttively prevent the occurring of hospital infection in clinical laboratory.

Cardiac toxicity is found in frequently used chemotherapeutic agents.There are many factors related to the cardiac toxicity caused by chemotherapeutic agents.The common cardiovascular complications include heart failure,ischemia,hypertension,hypotension,edema,QT prolongation,pleural effusion,pericardial effusion,bradyarrhythmia and thromboembolism.It is necessary to monitor the left ventricular function before and after chemotherapy and take effective measures to protect myocardium.

ObjectiveTo investigate the effect of low frequency stimulation on motor function of stroke patients.Methods50 stroke patients were randomly divided into control group and treatment group with 25 cases in each group. Patients of control group received neuromedical and Bobath technical treatment; cases of treatment group received low frequency stimulation besides the above two methods. All patients were assessed respectively with the Fugl-Meyer Assessment and Clinical Nerve Function Impaired Scale at the admission and on 20 days after treatment.ResultsThe motor functions of both groups were improved (P<0.05). But the recovery of treatment group was superior to the control group (P<0.05).ConclusionLow frequency stimulation can promote the stroke patients' motor function recovery.