No specific causative gene has been found for epilepsy or autism,while the co-occurrence rate of these two disorders is approximately 30％,suggesting potentially shared common mechanisms.A number of well-known genetic disorders share epilepsy and autism as prominent phenotypic features,including Rett syndrome,tuberous sclerosis,fragile X,and so on.A lot of gene mutations related with the development of nervous system,such as ARX,MECP2,usually associate with the prevalence of these syndromes.Gene mutations often disrupt synaptic plasticity,leading to protein adjusting spiral out of control,resulting in imbanlance of excitement and inhibition in brain,which develop a series of diseases.Mechanisms of early-life seizures and autism turn out to be in several levels,for gene mutations may lead to changes in both molecules and cells,resulting in intelligence and behavior abnormalities.Genetic research progress of syndromes with the comorbidity of epilepsy and autism are reviewed in this paper,in order to provide insight into their underlying pathophysiology and elucidate new therapeutic approaches of both conditions.

Objective To study the psychological experience of patients infected with human immunodeficiency virus (HIV) and provide theoretical basis for clinical care.Methods The phenomenological research method was used to interview 9 patient in depth.The Colaizzi 7-step analysis method was used to analyze their clinical data.Result The mental experience of the AIDS patients after notification of affirmative diagnosis of AIDS included six aspects:concealing,suspicion or denying,worry of being abandoned,eager to be cured,calm and worry of communicating the disease to their family members.Conclusion The nurses should pay attention to their mentality,helping them build a social supporting system and supporting pertinent interventions according to individual psychological experience,which is helpful for controlling risks of disease transmission and improving treatment compliance.

Adult ; Drug Combinations ; Drugs, Chinese Herbal ; therapeutic use ; Fatty Liver ; drug therapy ; Female ; Humans ; Male ; Middle Aged ; Phytotherapy ; Powders

Diagnosis, Differential ; Female ; Humans ; Immunohistochemistry ; In Situ Hybridization, Fluorescence ; Leukemia, Myeloid, Chronic-Phase ; genetics ; Lymphoma ; classification ; diagnosis ; pathology ; Male ; Neoplasms ; genetics ; metabolism ; pathology ; Oncogene Proteins ; metabolism ; Prognosis ; Prostatic Neoplasms ; genetics ; Reverse Transcriptase Polymerase Chain Reaction ; Translocation, Genetic ; Tumor Suppressor Proteins ; metabolism

Objective To investigate the role of protein O-linked N-acetyl-glucosamine (O-GlcNAc) modification in glutamine-induced improvement in the vascular hyporeactivity in rats with septic shock.Methods Thirty-two adult male Sprague-Dawley rats,aged 2-3 months,weighing 250-300 g,were randomly divided into 4 groups (n =8 each):sham operation group (S group); septic shock group (C group); glutamine group (G group) ; alloxan group (A group).Septic shock was induced by cecal ligation and puncture (CLP).In G and A groups,glutamine 0.75 g/kg was infused intravenously over 30 min at 1 h before CLP,and in addition alloxan 90 mg/kg was infused intraperitoneally in A group.Phenylephrine (PE) 0.5,1.0,2.0,and 2.5 μg/kg was injected intravenously at 20 min intervals at 6 h after CLP and the percentage increase in mean arterial pressure (MAP) was calculated.The thoracic aorta rings were isolated to perform the isolated vascular tension experiment.The concentration-response curve of PE was obtained in tension experiments,and the PE maximum efficacy (Emas) and median effective dose ( EC50 ) were calculated.The expression of O-GlcNAc modification and iNOS content in the thoracic aorta were detected in all groups.Blood samples were taken to determine the serum concentration of NO.Results Compared with S group,the percentage increase in MAP and Emax were significantly decreased,while the EC50,serum concentration of NO,and expression of O-GlcNAc modification and iNOS content in thoracic aorta were significantly increased in C,G and A groups ( P ＜ 0.05).Compared with C group,the expression of O-GlcNAc modification in the thoracic aorta was significantly increased,and EC50 was significantly decreased in G group,and the percentage increase in MAP and Emax were significantly increased,while the serum concentration of NO,and content of iNOS in the thoracic aorta were significantly decreased in G and A groups ( P ＜ 0.05).Compared with G group,the EC50,serum concentration of NO,and content of iNOS in the thoracic aorta were significantly increased,while the percentage increase in MAP,Emax and expression of O-GlcNAc modification in the thoracic aorta were significantly decreased ( P ＜ 0.05 ).Conclusion Glutamine improves the vascular hyporeactivity through increasing the level of protein O-GlcNAc modification in rats with septic shock.

The paper analyzes new characteristics of the digital scientific research environment and features of knowledge demand of scientific research users in this environment, elaborates the direction of information resources construction, namely, making integration and in-depth analysis of all kinds of scientific research information resources, realizing efficient management and resources sharing by constructing the institutional repository, setting up a communicative scientific research service platform, supporting the scientific research user-based academic communication.

Objective To study the regulating effect of complementing calcium and invigorating kidney method on the bone morphogenetic protein-4(BMP-4) and signal transduction mechanism.Methods Female Wistar rats were randomly divided into seven groups:normal group,model group,low-,middle-,high-dose yster calcium compound Chinese medicine for reinforcing kidney group,Gushukang granule group,oyster shell calcium tablets group.The model of postmenopausal osteoporosis was established through ovariectomy in rats.The osteoporosis rats were treated with nanometer calcium and invigorating kidney Chinese medicine Gushukang granule,and oyster shell carbonate chewable tablets were used as positive-control groups,the normal rats as standard control,and the model rats as model control.After 12 weeks of the treatment,the indexes were tested.The bone mineral density(BMD) of femoral bone in vitro was detected by dual-energy X-ray densitometer and the expression of BMP-4 and Smad 5,6 mRNA were detected by reverse transcription-polymerase chain reation(RT-PCR).Results Compared with the model rats,BMD of femoral bone in Chinese medicine groups(high dose,middle dose,low dose) increased obviously(P

Objective:To retrospectively evaluate whole body ~(18)F-FDG PET/CT in depicting the primary tomors in cervical metastatic adenocarcinoma of unknown primary site.Methods:Seventeen patients were included and underwent whole body PET/CT imaging.The primary tumors and metastases were detected by visual evaluation and measurements of standardized uptake values.The PET/CT impression was verified by histopathology and(or)follow-up.Results:In 17 patienis,primary tumors of 13 patients were confirmed by pathological or clinical follow-up.Among them,8 were in the lung,1 in breast,1 in renal,2 in colon and 1 in cervix.Among the other 4 cases,3 cases were correctly diagnosed as malignant lymphoma finally by PET/CT instead of metastatic adenoearcinoma previously.The sensitivity,specificity and accuracy of PET/CT in were 92.3%,75.0% and 88.2%,identifying primary tumors respectively.After PET/CT examination,10 patients(58.8%)were detected additional metastatic lesions which were missed previously.Conclusion:Whole body ~(18)F-FDG PET/CT may be of relatively higher value in identifying the primary tumor of cervical metastatic adenocarcinoma from unknown primary site.It also may display tumor involvement extent.

Circulating tumor cell ( CTC ) testing is characterized by its invasiveness, sampling convenience and facility for real-time monitoring.The booming detection technologies based on physical or immunological features, as well as the subsequent molecular analysis of CTCs including subtype classification, single cell sequencing and in vitro culture, has greatly enriched our comprehension of CTCs and cancer heterogeneity.Meanwhile, a great of researches have demonstrated the significance of CTCs testing in the clinical practice of cancers involving aspects of early diagnosis, treatment monitoring and prognosis.

OBJECTIVE:To observe the clinical efficacy and safety of prucalopride in the treatment of functional constipation (FC). METHODS:In prospective self-controlled study,87 female patients with FC were selected and given prucalopride 2 mg,1 time per day. The total course was four weeks. The defecate frequency,stool property and constipation symptom grade were ob-served before and after treatment. Related adverse drug reaction were observed during treatment. RESULTS:During the period of treatment,the defecate frequency was gradually increased,the stool property was gradually improved,and the constipation symp-tom grade of the patients was also improved. The difference had statistical significance before and after treatment(P<0.01). No sig-nificant adverse drug reaction was found during the study. CONCLUSIONS:Prucalopride is a safe and effective treatment for pa-tients with FC.