Objective Isolating and purifying the major allergens from Metapenaeus ensis and identifying its immunoreactivity for diagnostic application. Methods The proteins extracted from Metapenaeus ensis were purified by DEAE-52 ion-exchange chromatography and Sephadex G-100 gel filtration. The eluted peaks were detected by dot-ELISA,and the immunoreactivity of the purified allergens was detected by ELISA with the sera from patients allergic to shrimp. The molecular weights of the purified allergic proteins were detected by SDS-PAGE. Results Two major allergic proteins which have highly immunoreactivity in ELISA detection were purified from Metapenaeus ensis. The molecular weights of which were 36 and 68kDa,respectively. Conclusion The major allergens of Metapenaeus ensis purified by ion-exchange chromatography and gel filtration have effective immunoreactivity and can be used as specific antigen in ELISA reagent.

Objective To investigate the value of central venous pressure (CVP) combined with visual left ventricular ejection fraction(LVEF) as an indicator of fluid responsiveness in patients with septic shock.Methods A retrospective analysis of 83 patients with septic shock receiving fluid challenge was conducted.The hemodynamic changes were evaluated with the pulse indicator continuous cardiac output (PiCCO) monitor,and all the patients were divided into two groups:the responded group (△CI％ ≥15％)and the unresponded group(△CI ＜ 15％),according to the change in CI(△CI％).Those patients were divided into several subgroups,including low CVP group (CVP ＜ 8 mmHg) and high CVP group (CVP ≥ 8 mmHg),low LVEF group(LVEF ＜ 50％) and high LVEF group(LVEF ≥ 50％),according to the initial value of CVP and LVEF.The changes in hemodynamic variables were compared before and after fluid challenge in each subgroup.The ability of CVP and visual LVEF was evaluated to predict fluid responsiveness with receiver operating characteristic curves.Results Fifty three (63.9％) patients responded to the fluid challenge,and lower CVP and higher LVEF patients were more frequency in responded group.The threshold value of 8 mmHg CVP for prediction of fluid responsiveness revealed the area under the curve (AUC) of 0.646 (P =0.219),and 50％ visual LVEF revealed AUC of 0.729 (P =0.023).CVP in combination with visual LVEF for prediction of fluid responsiveness showed an AUC of 0.817 (P =0.001) with a sensitivity of 76.3％ and a specificity of 88.2％.Conclusions Visual LVEF alone and combined with CVP can be used as an indicator of fluid responsiveness in patients with septic shock.

Objective To investigate the accuracy of careful clinical evaluation in hemodynamic status and guidance of PiCCO monitor in clinical treatment.Methods A total of 96 hemodynamic unstable cases were evaluated prior to the insertion of the PiCCO catheter.The attending physician in charge of the patient was required to complete a questionnaire to predict the range of key hemodynamic variables for CI,GEDI,SVRI and EVLWI.Additionally,the attending was also asked to indicate a plan for therapy based on the predicted hemodynamic profile and decide if the predicted therapy plan was altered after the the first measurement of hemodynamic variables.Results The accurate prediction of hemodynamic variables was CI (55.2％),GEDI(60.4％),SVRI(63.5％) 和 EVLWI (78.1％),among which EVLWI had a higher accuracy(P ＜ 0.05).49％ doctors altered their planned therapy according to the result of the PiCCO information.Doctors had more difficulty in accurately predicting hemodynamic values in critical patients which APACHE Ⅱ scored 15 ～25 (42.3％ vs 67.9％ and 42.3 ％ vs 75.0％,x2 =4.755,5.231,P ＜ 0.05).The prediction of patients with acute myocardial infarction was more accurate than those of without acute myocardial infarction,and less to alter the planned therapy(21.1％ vs 55.8％,x2 =7.382,P =0.007).The patients of impaired oxygenation had less accurate predictions and less therapy alterations(32.3％ vs 56.9％,x2 =5.110,P =0.024).Attending was able to predict the hemodynamic status more accurately(63.9％ vs 40％,x2 =5.152,P =0.023) and alter the predicted therapy less(39.3％ vs 65.7％,x2 =6.189,P =0.013) in patients who were enrolled later.Conclusions Clinical evaluation in hemodynamic status of critically ill patients had a lower accuracy,the information obtained by PiCCO often instruct clinical doctors to choose the optimal treatment.

Objective To explore the clinical feature and gene mutation in steroid 5α-reductase 2 deficiency (SRD5A2). Method The clinical data of SRD5A2 in a child with vulva abnormality as the first manifestation was retrospectively analyzed. Results This was a 29-month-old child, whose social gender was female. The level of her basic luteinizing hormone (LH) was 0.07 mIU/mL, and follicle-stimulating hormone was (FSH) 0.39 mIU/mL. The baseline levels of testosterone (T), dihydrotestosterone (DHT), 17-hydroxyprogesterone (17-OHP) and androstendione (A2) were 0.06 ng/mL, 19.67 pg/mL, 1.20 ng/mL, and 0.07 ng/mL respectively. Those levels were 3.65 ng/mL, 68.25 pg/mL, 51.72 ng/mL, and 14.70 ng/mL respectively after Human chorionic gonadotropin (HCG) stimulation. The levels of her anti-mullerian hormone (AMH) was 22.97 ng/mL, and inhibin B (INH-B) was 274.4 pg/mL. The uterus and ovaries were not detected by Pelvic ultrasound and MRI. The chromosome showed 46, XY. Sex determination (SRY) gene detection showed normal. Androgen receptor (AR) gene detection showed negative. There was pathogenic mutation of 5α-reductase 2 (SRD5A2) gene in peripheral blood of the child and her parents. The penis grows 2 cm after 4 months of treatment with 2.5% DHT gel. Conclusion SRD5A2 is diagnosed mainly based on the increase of T/DHT after HCG stimulation experiment and it can be confirmed by detection of pathogenic SRD5A2 mutation.

OBJECTIVE: To explore the clinical characteristics and genetic etiology of a child with Schaaf-Yang syndrome (SYS). METHODS: Peripheral blood samples of the child and his parents were collected and subjected to whole exome sequencing. Sanger sequencing was used for family constellation verification, and bioinformatic analysis was performed for the candidate variant. RESULTS: The child, a 1-year-and-9-month-old boy, had clinical manifestations of retarded growth, small penis, and unusual facies. Genetic testing revealed that the child has harbored a novel heterozygous variant of c.3078dupG (p.Leu1027Valfs*28) of the MAGEL2 gene. Sanger sequencing showed that neither parent of the child carried the same variant. The c.3078dupG(p.Leu1027Valfs*28) variant of the MAGEL2 gene has not been included in the databases of ESP, 1000 Genomes and ExAC. According to the Standards and Guidelines for the Interpretation of Sequence Variants of the American College of Medical Genetics and Genomics (ACMG), the variant was judged to be pathogenic. CONCLUSION The c.3078dupG (p.Leu1027Valfs*28) variant of the MAGEL2 gene probably underlay the SYS in this child, which has further expanded the spectrum of the MAGEL2 gene variants.
Child ; Humans ; Infant ; Male ; Exome Sequencing ; Genetic Testing ; Heterozygote ; Mutation ; Proteins/genetics* ; Developmental Disabilities/genetics*

Objective: To investigate the sleep quality at home and the influencing factors in patients with colorectal tumor after enterostomy. Methods: Using convenience sampling method, during March 2016 to December 2017 in Anhui Provincial Cancer Hospital wound and stoma outpatient, choose 276 patients with enterostomy (including temporary enterostomy and permanent enterostomy), using self-made general questionnaire ostomy, Pittsburgh Sleep Quality Index (PSQI) and self nursing competence scale to investigate them. Results: The total PSQI score of enterostomy patients was 6.39±4.07, among which 150 patients (57.0%) had poor sleep (PSQI>7). The score of the 7 dimensions of PSQI from high to low was sleep time (1.22±1.05), sleep time (1.12±0.98), subjective sleep quality (1.00 ±0.92), sleep disorder (1.02±0.95), sleep efficiency (0.95±0.43), daytime dysfunction (0.83±0.76), hypnotic drugs (0.25±0.24).There were statistically significant differences in sleep quality among patients with different ages (Z=-2.937), duration of stoma (t=3.450-3.896), types of stoma (t=3.998-4.011), whether or not they had a history of leakage within 1 month (t=3.454-6.774), whether or not they had bloating bags (t=3.230-4.001), stoma complications (t=2.976-3.582), enterostomy self-care knowledge (Z=-3.202, t=3.971) and nursing skills (t=3.061)(P<0.05). Conclusions The present study shows that the sleep quality of patients with enterostomy is generally poor, and targeted measures should be taken to reduce its incidence or to intervene in time.

Objective To investigate the clinical features of hypopituitarism with nonalcoholic fatty liver disease (NAFLD) in children after sellar tumor surgery and the association between hypopitarism and NAFLD in children. Methods A retrospective analysis was performed for the clinical data of children with hypopituitarism and NAFLD after sellar tumor surgery who were followed up regularly in Wuhan Children's Hospital, Tongji Medical College, Huazhong University of Science and Technology, from January 2017 to December 2021, and their clinical features were analyzed. Results There were 32 children with regular follow-up and complete clinical data after sellar tumor surgery, and 10 children (31.25%) developed NAFLD, among whom there were 5 boys and 5 girls. Among these 10 children, 9 had craniopharyngioma and underwent surgical treatment, and 1 had germinoma and underwent local radiotherapy. The 10 children had a median age of 8.4(6.29.8) years at the diagnosis of hypopituitarism and a median age of 11.9(8.7-12.6) years at the diagnosis of NAFLD. The median number of years from the diagnosis of hypopituitarism to the diagnosis of NAFLD was 2.0(1.4-4.0) years. At the diagnosis of NAFLD, all 10 children had obesity, and body mass index (BMI) was increased by 7.26±4.25 kg/m 2 on average since the diagnosis of hypopituitarism; the 10 children had a mean fasting blood glucose level of 4.67±0.55 mmol/L, a mean fasting insulin level of 25.40±5.93 μIU/ml, and a mean HOMA-IR index of 5.26±1.29. Among these 10 children, 9 had hypertriglyceridemia, and 1 had elevated triglyceride, with a mean level of 3.08±1.09 mmol/L; 6 children had hypercholesterolemia, with a mean level of 5.67±1.25 mmol/L; 8 children had high-density lipoprotein cholesterolemia, with a mean level of 3.97±1.27 mmol/L. After the diagnosis of NAFLD, 2 children were treated with recombinant human growth hormone and metformin and achieved reductions in BMI, HOMA-IR, and triglyceride after treatment, and total cholesterol and low-density lipoprotein cholesterol were reduced to the normal range. Conclusion Children may experience weight gain, hypopituitarism, insulin resistance, and dyslipidemia after sellar tumor surgery, which may lead to the onset of NAFLD. Weight management and active pituitary hormone replacement therapy are recommended for such children, as well as routine screening and management of fatty liver disease.