To explore the long-term effects of L-T4 treatment on physical and intellectual development in neonatal congenital hypothyroidism(CH) patients during adolescence and adulthood.14 out of 15 patients,aged 15-31 years old,including 9 males and 6 females,were diagnosed by neonatal screening for congenital hypothyroidism.(1) By treatment for 10 years until adolescence,return visit ages were 12.6-18.1 years old,the height of patients were normal in 14 cases,weight normal in 8 cases,and overweight in 6 cases.Only the first patient of neonatal screening for congenital hypothyroidism height 154 cm,weight of 43.5 kg,which were below the standard.Bone age by X-ray showed 9 normal,1 case of rapid development,4 cases with left wrist bone age retardation.IQ combined Raven's test(CRT) showed 3 cases excellent,7 cases normal,3 cases borderline,and 2 cases low.(2)Treatment for more than 20 years to adulthood,9 cases of return visits (8 cases were screened out) by 23-31 years of age,with 5 males and 4 females,height and bone age were all normal,normal weight,only 2 cases BMI slightly overweight.As to IQ,good were in 7 cases,mild retardation in 2 cases.7 patients received above average education;they were all employed except one.The employed patients were all capable for their jobs.In summary,screening out of 8 patients,1 case were of mild mental retardation (12.5％);while 7 patients(87.5％),both in physical and intellectual levels were as those of the normal population.

Objective To investigate the effects of three laparoscopic bariatric operations on relieving type 2 diabetes in morbid obese patients. Methods From 2005 to 2009, 15 morbid obese patients with type 2 diabetes received bariatric operations in Shengjing Hospital including lapband operation (7 cases) , sleeve gastrectomy (7 cases) and gastric bypass(4 cases). All patients were followed up for more than 1 year. Results All patients recovered without major complications. Body weight decreased and BMI was respectively (27. 6 ± 2. 0) kg/m2, ( 26. 9 ± 1. 4) kg/m2 and (27. 5 ± 3. 0) kg/m21 year after operation. The excess BMI loss in three groups were (76. 4% ± 6. 8% ) , (83. 7% ± 4. 6% ), (85. 7% ±9. 5% ) 1 year after operation. On the other side, the fasting glucose levels and glycohemoglobin in gastric bypass group were much lower than that in other two groups. Conclusion All these operations were effective in controling the weights and fasting glucose levels, while the gastric bypass method is better than other two methods in weight and serum glucose control. Sleeve gastrectomy was better in weight and glucose control than lap band operation.

Midbrain dopamine (DA) neurons play an essential role in modulating motor control. Defects in central DA neurons affect a wide range of neurological disorders including Parkinson's disease (PD). The greatest motivation in the field has been the potential use of DA neurons for cell transplantation therapy in Parkinsonian patients. Recent studies indicated that BMSCs could differentiate into DA neurons in vitro as neural stem cells (NSC) and embryonic stem cells (ESC) could. However, there are no direct evidences about functional DA neurons derived from BMSCs. According to the protocols which had been applicated in inducing neuronal stem cells and embryonic stem cells differentiate into DA neurons in vitro, the present study provides a protocol by using 50 micromol/L brain derived neurotrophy factor (BDNF), 10 micromol/L forskolin (FSK) and 10 micromol/L dopamine (DA) to induce BMSCs differentiate into DA neurons. After 2 weeks of differentiation, the cells expressed the character of neurons in ultrastructure. RT-PCR discovered mRNA of NSE (neuron specific enolase), Nurr1, Ptx3, Lmx1b and Tyrosine hydroxylase (TH) were positive. Immunocytochemistry staining indicated the ratio of TH-positive neural cells was significantly increased after induced 2 weeks (24.80 +/- 3.36) % compared to that of induction of 3 days (3.77 +/- 1.77) %. And the DA release was also different between differentiated and undifferentiated cells detected by high performance liquid chromatography (HPLC). That is to say BDNF and FSK and DA can induce BMSCs differentiate into DA neurons in vitro, and the transdifferentiated cells express mature neurons characters. BMSCs might be a suitable and available source for the in vitro derivation of DA neurons and cell transplantation therapy in some central neural system diseases such as PD.
Adult ; Aged ; Bone Marrow Cells ; cytology ; metabolism ; ultrastructure ; Brain-Derived Neurotrophic Factor ; pharmacology ; Cell Transdifferentiation ; drug effects ; genetics ; physiology ; Cells, Cultured ; Chromatography, High Pressure Liquid ; Colforsin ; pharmacology ; Dopamine ; metabolism ; pharmacology ; Female ; Humans ; Immunohistochemistry ; Male ; Mesenchymal Stromal Cells ; cytology ; metabolism ; ultrastructure ; Microscopy, Electron, Transmission ; Middle Aged ; Neurons ; cytology ; metabolism ; ultrastructure ; Phosphopyruvate Hydratase ; genetics ; Reverse Transcriptase Polymerase Chain Reaction ; Tyrosine 3-Monooxygenase ; genetics ; metabolism ; Young Adult

OBJECTIVETo construct a eukaryotic expression vector containing aldehyde dehydrogenase-2 (ALDH2) gene and investigate the effects and its possible mechanisms of ALDH2 gene on cell proliferation and anti-oxidative damage in the K562 cells.

METHODSAn eukaryotic expression vector containing the ALDH2 gene cloned from human hepatocytes was constructed and transfected into K562 cells by liposome. RT-PCR and Western blot were used to evaluate the expression of ALDH2. MTT assay was used to check the cell proliferation and trypan blue exclusion to check K562 cells damage induced by hydrogen peroxide (H2O2). RT-PCR and fluorescence spectrophotometry were used to determine the expression of heme oxygenase-1 (HO-1) and the generation of intracellular reactive oxygen species (ROS) respectively.

RESULTSRT-PCR and Western blot analysis showed distinct higher ALDH2 protein expression in gene transfected group. The latter group had a higher cell proliferation (P < 0.05) and survival rate against H2O2 induced-oxidative damage, being increased by 7.8 times (IC(50) was 12.3 µmol/L and 1.4 µmol/L for K562-pcDNA3.1-ALDH2 and control cells, respectively, P < 0.01). The HO-1 mRNA expression and the generation of intracellular ROS were downregulated at a specific concentration of H2O2 in the ALDH2 gene transfected group.

CONCLUSIONALDH2 gene transfection can protect K562 cells against oxidative damage, and the downregulation of HO-1 expression and intracellular ROS may be involved in this process.

Aldehyde Dehydrogenase ; Apoptosis ; drug effects ; Cell Proliferation ; drug effects ; Humans ; Hydrogen Peroxide ; K562 Cells ; RNA, Messenger ; genetics ; Transfection

Objective To investigate the expression and significance of major histocompatibility complex classⅡgene in multiple organ dysfunction syndrome.Methods Two-hit porcine model of MODS was duplicated in 18 swine that were randomly assigned into experimental group(Group M,n=9) and control group(Group C,n=9).The Group M was given compound factors including hemorrhagic shock,reperfusion injury and endotoxemia,and the Group C only underwent anesthesia and arterious/ve- nous eannula.After seven days,the animals were killed to remove splenic tissues fro extracting total RNA by Trizol method.The primer of SLA-DQA(MHC classⅡgene of swine)was designed to construct cD- NA by reverse transcription and the quantity of SLA-DQA mRNA detected with real time fluorescent quan- titative polymerase chain reaction(real time FQ-PCR).The standard curve was described by UVP com- puter image analysis system.Results The mortality of Group M was 78%(7/9),and the incidence rate of MODS was 89%(8/9).The expressing quantity of Group M was(1.376?1.006)?10~3,signifi- cantly lower than(5.330?3.053)?10~3 of Group C(P＜0.01).Conclusion Duplication of por- cine MODS model is satisfactory.Down-regulation of MHC classⅡgene may be due to control of classⅡtransactivator(CⅡTA)and release of multiple eytokine,such as TNF-?and IL-10.

The purpose of this study was to construct 4 types of nonsense-mutated eukaryotic expression plasmids of fIX gene, using pcDNA3.1 plasmid containing fIX cDNA as template, and to identify, then to perform their expression in COS-7 cells. These stop mutants constructed by site-directed mutagenesis based on PCR, and further confirmed by DNA sequencing. COS-7 cells were transfected with either the wild-type or mutated fIX expression constructs, then the relative expression levels of fIX mRNA were detected by real time fluorescent quantitative PCR. The result showed that except the designed sites, there were no other nucleotide mutation in the sequences of four nonsense mutants. The results of real time PCR proved that the nonsense-mutated vectors can be effectively expressed in COS-7 cells. It is concluded that the nonsense-mutated eukaryotic expression vectors of fIX gene have been successfully constructed and can express in COS-7 cells, which provides the material basis for further researches on mechanism and treatment of FIX deficiency and the function defects caused by nonsense mutation.
Animals ; Base Sequence ; COS Cells ; Cercopithecus aethiops ; Cloning, Molecular ; Codon, Nonsense ; genetics ; Factor IX ; genetics ; Genetic Vectors ; Transfection

Objective To explore the clinical feasibility of predicting synchronous liver metastases based on MRI radiomics nomogram based on T2WI in rectal cancer. Methods The imaging and clinical data of 261 patients with primary rectal cancer admitted to Zhejiang People′s Hospital from April 2012 to May 2018 were retrospectively analyzed. 101 patients were accompanied by synchronous liver metastasis All cases were divided into training group (n=182) and verification group (n=79). T2WI image of each patient was selected to extract texture features by AK analysis software of GE company. A radiomics signature was constructed after reduction of dimension in training group by the least absolute shrinkage and selection operator (LASSO). Univariate logistic regression was used to select for independent clinical risk factors and multivariate logistic regression along with imaging omics tags were used to construct predictive models and nomogram. ROC was used to assess the accuracy of the nomogram in the training group and to verify them by the validation group. Finally, the clinical efficacy of each patient′s synchronized liver metastasis risk factor was calculated based on the nomogram. Results A total of 328 texture features were extracted from the T2WI. Seven most valuable features were selected after reducing the dimension by LASSO algorithm, including 3 co-occurrence matrices (GLCM) and 4 run-length matrices(RLM). Tumor staging and radiomic signatures were included in the Multifactor logistic regression to build the prediction model and nomogram. The accuracy of predicting SRLM was 0.862 and 0.844 in the training and the verification group, respectively. To evaluate the accuracy of the nomogram, radiomics signature and the tumor staging in all cases were 0.857, 0.832 and 0.663, respectively. There was no significant difference in the number of SRLM cases between the high risk group and the low risk group based on nomogram (P>0.05). Conclusion The radiomics nomogram based on T2WI can be used as a quantitative tool to predict synchronous liver metastases of rectal cancer.

OBJECTIVE: To review the clinical data of pathological morphology, diagnosis, surgical treatment of cor triatriatum in 15 patients. METHODS: Fifteen patients with a mean age of (14.6+/-10.3) years (range from 6 months to 40 years) were performed operations under extracorporeal circulation. Fourteen of the patients had cor triatriatum sinister, and 1 had cor triatriatum dexter; 12 of the 15 patients had other cardiac abnormalities. The excision of the fibromuscular membrane was accomplished through a right atrial incision in all of the 14 cases, and the associated abnormalities were corrected at the same time. RESULTS: One patient died after the operation, and the other survivors had good outcome. CONCLUSION Operation is necessary if the diagnosis is clear. The patients generally have good prognosis. Surgical results of cor triatriatum depend on the complexity of associated defects and the adequacy of the repair.
Adolescent ; Adult ; Child ; Child, Preschool ; Cor Triatriatum ; surgery ; Female ; Humans ; Infant ; Male ; Retrospective Studies ; Young Adult

To establish the experts consensus on the management of delirium in critically ill patients.A special committee was set up by 15 experts from the Chinese Critical Hypothermia-Sedation Therapy Study Group.Each statement was assessed based on the GRADE (Grading of Recommendations Assessment,Development,and Evaluation) principle.Then the Delphi method was adopted by 36 experts to reassess all the statements.(1) Delirium is not only a mental change,but also a clinical syndrome with multiple pathophysiological changes.(2) Delirium is a form of disturbance of consciousness and a manifestation of abnormal brain function.(3) Pain is a common cause of delirium in critically ill patients.Analgesia can reduce the occurrence and development of delirium.(4) Anxiety or depression are important factors for delirium in critically ill patients.(5) The correlation between sedative and analgesic drugs and delirium is uncertain.(6) Pay attention to the relationship between delirium and withdrawal reactions.(7) Pay attention to the relationship between delirium and drug dependence/ withdrawal reactions.(8) Sleep disruption can induce delirium.(9) We should be vigilant against potential risk factors for persistent or recurrent delirium.(10) Critically illness related delirium can affect the diagnosis and treatment of primary diseases,and can also be alleviated with the improvement of primary diseases.(11) Acute change of consciousness and attention deficit are necessary for delirium diagnosis.(12) The combined assessment of confusion assessment method for the intensive care unit and intensive care delirium screening checklist can improve the sensitivity of delirium,especially subclinical delirium.(13) Early identification and intervention of subclinical delirium can reduce its risk of clinical delirium.(14) Daily assessment is helpful for early detection of delirium.(15) Hopoactive delirium and mixed delirium are common and should be emphasized.(16) Delirium may be accompanied by changes in electroencephalogram.Bedside electroencephalogram monitoring should be used in the ICU if conditions warrant.(17) Pay attention to differential diagnosis of delirium and dementia/depression.(18) Pay attention to the role of rapid delirium screening method in delirium management.(19) Assessment of the severity of delirium is an essential part of the diagnosis of delirium.(20) The key to the management of delirium is etiological treatment.(21) Improving environmental factors and making patient comfort can help reduce delirium.(22) Early exercise can reduce the incidence of delirium and shorten the duration of delirium.(23) Communication with patients should be emphasized and strengthened.Family members participation can help reduce the incidence of delirium and promote the recovery of delirium.(24) Pay attention to the role of sleep management in the prevention and treatment of delirium.(25) Dexmedetomidine can shorten the duration of hyperactive delirium or prevent delirium.(26) When using antipsychotics to treat delirium,we should be alert to its effect on the heart rhythm.(27) Delirium management should pay attention to brain functional exercise.(28) Compared with non-critically illness related delirium,the relief of critically illness related delirium will not accomplished at one stroke.(29) Multiple management strategies such as ABCDEF,eCASH and ESCAPE are helpful to prevent and treat delirium and improve the prognosis of critically ill patients.(30) Shortening the duration of delirium can reduce the occurrence of long-term cognitive impairment.(31) Multidisciplinary cooperation and continuous quality improvement can improve delirium management.Consensus can promote delirium management in critically ill patients,optimize analgesia and sedation therapy,and even affect prognosis.

Objective: To summarize the clinical characteristics and gene variants of 2 pedigrees of non-muscle myosin heavy chain 9 related diseases (MYH9-RD) in children. Methods: The basic information, clinical features, gene variants and laboratory tests of MYH9-RD patients from 2 pedigrees confirmed in the First Affiliated Hospital of Zhengzhou University in November 2021 and July 2022 were analyzed retrospectively. "Non-muscle myosin heavy chain 9 related disease" "MYH9" and "children" were used as key words to search at Pubmed database, CNKI and Wanfang database up to February 2023. The MYH9-RD gene variant spectrum and clinical data were analyzed and summarized. Results: Proband 1 (male, 11 years old) sought medical attention due to epistaxis, the eldest sister and second sister of proband 1 only showed excessive menstrual bleeding, the skin and mucous membrane of the their mother were prone to ecchymosis after bumping, the uncle of proband 1 had kidney damage, and the maternal grandmother and maternal great-grandmother of proband 1 had a history of cataracts. There were 7 cases of phenotypic abnormalities in this pedigree. High-throughput sequencing showed that the proband 1 MYH9 gene had c.279C>G (p.N93K) missense variant, and family verification analysis showed that the variant was inherited from the mother. A total of 4 patients including proband 1 and family members were diagnosed with MYH9-RD. The proband 2 (female, 1 year old) sought medical attention duo to fever and cough, and the father's physical examination revealed thrombocytopenia. There were 2 cases of phenotypic abnormalities in this pedigree. High-throughput sequencing showed that there was a c.4270G>A (p.D1424N) missense variant in the proband 2 MYH9 gene, and family verification analysis showed that the variant was inherited from the father. A total of 2 patients including proband 2 and his father were diagnosed with MYH9-RD. A total of 99 articles were retrieved, including 32 domestic literatures and 67 foreign literatures. The MYH9-RD cases totaled 149 pedigrees and 197 sporadic patients, including 2 pedigrees in our study. There were 101 cases with complete clinical data, including 62 sporadic cases and 39 pedigrees. There were 56 males and 45 females, with an average age of 6.9 years old. The main clinical manifestations were thrombocytopenia, skin ecchymosis, and epistaxis. Most patients didn't receive special treatment after diagnosis. Six English literatures related to MYH9-RD caused by c.279C>G mutation in MYH9 gene were retrieved. Italy reported the highest number of cases (3 cases). Twelve literatures related to MYH9-RD caused by c.4270G>A mutation in MYH9 gene were retrieved. China reported the highest number of cases (9 cases). Conclusions: The clinical manifestations of patients in the MYH9-RD pedigrees varied greatly. MYH9 gene c.279C>G and c.4270G>A mutations are the cause of MYH9-RD.
Infant ; Humans ; Female ; Male ; Child ; Myosin Heavy Chains/genetics* ; Ecchymosis ; Epistaxis ; Pedigree ; Retrospective Studies ; Muscular Diseases ; Thrombocytopenia ; Cytoskeletal Proteins