Objective To compare the sedative effects and pharmacoeconomic profiles of two kinds of combination of dexmedetomidine in traumatic brain injury patients.Methods94 cases of traumatic brain injury from February 2015 to September 2016 were selected and randomly divided into two groups including A group(47 patients) and B group(47 patients).All patients received the same nursing intervention before and after operation.Patients in group A were given right of dexmedetomidine combined with propofol drug therapy, patients in group B were given dexmedetomidine combined with midazolam drug treatment.To maintain the agitation score (SAS) in the standard state of two~four and efficiency of sedation, the mean arterial pressure (map), respiratory rate (RR), heart rate (HR), oxygen saturation (SpO2), arterial carbon dioxide partial pressure (PaCO2), central venous pressure (CVP) Glasgow Coma Score (GCS) and pharmacoeconomic profiles were tested in all patients.ResultsAll patients in two groups achieved the expected sedative effect and analgesia scores.However, A group showed a greater decrease in MAP, RR and HR after sedation as compared to B group.In two groups, there was no significant difference was observed in pulse oxygen saturation (SpO2),partial pressure of carbon dioxide in artery(PaCO2), central venous pressure(CVP)or GCS score before and after sedation.Dexmedetomidine combined with MI of alprazolam treatment phase compared with dexmedetomidine and propofol regimen is more economical, and the difference has statistical significance (P<0.05).ConclusionThe effects of dexmedetomidine combined with propofol and dexmedetomidine combined with midazolam two regimens can achieve good sedative effect.But combined with propofol group compared to midazolam combined with group of respiratory and circulatory system have better inhibitory effect, also in drug economics angle, midazolam midazolam combined with group than that of propofol combined with group is more economical, patients taking lower cost.

Objective To investigate the expressions of gonadotropin-releasing hormone receptor(GnRHR)and epidermal growth factor receptor(EGFR) in gastric carcinoma and to explore its clinical significance.Methods The expressions of GnRHR and EGFR in 31 cases of gastric carcinoma were observed by SP immunohistochemical method and the method of in situ quantification.Results The GnRHR and EGFR positive immunoreactive substances were located in the tumor cells of gastric carcinoma,GnRHR 28 cases (90.32％ ),EGFR 15 cases ( 48.39％ ),the expression of GnRHR increased in accordance with histologic differentiation,well-differentiated 14 cases,moderately differentiated 9 cases,poorly differentiated 5 cases,the expression of EGFR decreased in accordance with its increasing degree of histologic differentiation,well-differentiated 3 cases,moderately differentiated 5 cases,poorly differentiated 7 cases,( P ＜ 0.05 ),and GnRHR was more obvious than EGFR in immunoreaction.Conclusion GnRHR and EGFR could be related to the pathogenesis and the development of the gastric carcinoma.

OBJECTIVETo explore the origin and mechanism of small supernumerary marker chromosomes (sSMC) in order to facilitate genetic counseling.

METHODSChromosome karyotypes of two fetuses and their immediate family members were analyzed by conventional G banding. High-throughput whole genome sequencing was used to determine the origin of sSMCs.

RESULTSFetus 1 was shown to have a karyotype of 47,XY,+mar but with normal FISH and B ultrasound findings. Its father also had a 47,XY,+mar karyotype with normal FISH results and clinical phenotype. High-throughput genome sequencing revealed that fetus 1 and its father were both 46,XY,dup(21)(q11.2;q21.1) with a 6.2 Mb duplication of the long arm of chromosome 21. The fetus was born with normal phenotype and developed well. Its grandmother also had a karyotype of 46,XX,t(15;21)(q13;p13) with normal FISH result and clinical phenotype. The karyotypes of its mother and grandfather were both normal. Analysis of fetus 2 showed a 47,XY,+mar karyotype with normal FISH results. High-throughput genome sequencing suggested a molecular karyotype of 46,XX. The fetus was born with normal phenotype and developed well. The karyotypes of its parents were both normal.

CONCLUSIONConsidering their variable origins, identification of sSMC should combine conventional G banding analyses with high-throughput whole genome sequencing for precise delineation of the chromosomes.

Adult ; Amniotic Fluid ; chemistry ; Chromosome Banding ; Chromosome Disorders ; diagnosis ; embryology ; genetics ; Cytogenetics ; Female ; Fetal Diseases ; diagnosis ; genetics ; Genetic Markers ; Humans ; In Situ Hybridization, Fluorescence ; Infant, Newborn ; Karyotyping ; Male ; Pregnancy ; Prenatal Diagnosis ; Young Adult

OBJECTIVETo analyze the deletion region for two fetal cases with large Yq deletions in order to provide genetic counseling and prenatal diagnosis.

METHODSFor both cases, amniotic fluid samples were cultured and analyzed with G banding and fluorescence in situ hybridization (FISH). Multiplex polymerase chain reaction was also carried out to amplify 15 sequence tagged sites (STS) of azoospermia factor (AZF) on the Y chromosome.

RESULTSFor both samples, the karyotypes were determined as 46,X,del(Y)(pter→q11:). No heterochromatin was found in C band. The karyotypes of their fathers were 46,XY, and heterochromatin was found in C band. STS analyses suggested that only sY82, sY84 and sY86 in AZFa were amplifiable while the other 12 STS were negative in amniotic fluid for the first case, which indicated deletions of AZFb, AZFd and AZFc. No AZF deletion was found in its father. For the second case, all 15 STS were amplifiable in the amniotic fluid, suggesting no AZF deletion. No AZF deletion was found in its father too.

CONCLUSIONConventional karyotyping combined with FISH and molecular genetics techniques can enable characterization of AZF microdeletions and facilitate genetic counseling and prenatal diagnosis.

Adult ; Azoospermia ; genetics ; Chromosome Deletion ; Chromosomes, Human, Y ; genetics ; Female ; Fetal Diseases ; diagnosis ; genetics ; Genetic Counseling ; Humans ; In Situ Hybridization, Fluorescence ; Karyotyping ; Male ; Pregnancy ; Prenatal Diagnosis

OBJECTIVETo track and analyze two false positive cases from non-invasive prenatal testing for potential fetal aneuploidy.

METHODSThe two cases, respectively reported to have XO (+++) and T18 (1/20) XO(+), were analyzed with conventional karyotyping, fluorescence in situ hybridization (FISH) and massively parallel genomic sequencing (MPS).

RESULTSThe first fetus, who was suspected for XO(+++), was verified to have super female syndrome (47,XXX/46,XX) due to confined placental mosaicism by karyotyping of amniotic fluid cells, FISH analysis of placenta and massively parallel sequencing (MPS) of fetal tissue. The second fetus, suspected to have trisomy 18 (1/20) XO(+), was verified to have Turner syndrome by karyotyping, FISH and MPS analyses of umbilical cord blood cells. And the karyotype was 45,X[48]/46, X, der(X) del(X) (p11.21) del(X) (q13.3)[62].

CONCLUSIONNon-invasive prenatal testing carries a risk for false positive diagnosis of fetal sex chromosome and trisomy 18. Combined cytogenetic and molecular techniques are required to ensure an accurate diagnosis.

Adult ; Aneuploidy ; Chromosome Aberrations ; Diagnostic Errors ; False Positive Reactions ; Female ; Fetal Diseases ; diagnosis ; genetics ; Humans ; Pregnancy ; Prenatal Diagnosis ; Young Adult

OBJECTIVE: To delineate cytogenetic and molecular abnormalities of a fetus carrying a de novo 46,X,der(X),t(X;Y)(p22.3;p11.2). METHODS: G-banded karyotyping and next-generation sequencing (NGS) were used to analyze the fetus, his father and sister. Single nucleotide polymorphism-based arrays (SNP-array), multiple PCR and fluorescence in situ hybridization (FISH) were utilized to verify the result. RESULTS: G-banded karyotyping at 320 bands showed that the fetus had a normal karyotype, while NGS has identified a 3.58 Mb microdeletion at Xp22.33 and a Y chromosomal segment of about 10 Mb at Yp11.32p11.2. With the sequencing results, high-resolution karyotyping at 550-750 bands level has determined the fetus to be 46,X,der(X)t(X;Y)(p22.3;p11.2). The result was confirmed by PCR amplification of the SRY gene, FISH and SNP-array assays. The karyotypes of his father and sister were both normal. His sister also showed no amplification of the SRY gene, and her NGS results were normal too, suggesting that the karyotype of the fetus was de novo. CONCLUSION Combined karyotyping, NGS, SNP-array, PCR and FISH assay can facilitate diagnosis of XX disorder of sex development.
Chromosomes, Human, X ; genetics ; Disorders of Sex Development ; genetics ; Female ; Fetus ; Humans ; In Situ Hybridization, Fluorescence ; Karyotyping ; Male ; Polymerase Chain Reaction ; Polymorphism, Single Nucleotide ; Translocation, Genetic

OBJECTIVETo explore the value of nutrition management in obese patients with type 2 diabetes mellitus(T2DM) after laparoscopic sleeve gastrectomy(LSG).

METHODSClinical data of 22 obese T2DM patients undergoing LSG from March 2013 to July 2015 in Fudan University Pudong Medical Center were collected. All the patients strictly followed the specialized instruction by nutritionists: diabetic and low calorie diet 3347.2 to 5020.8 kJ (800 to 1200 kcal) per day before the operation; low calorie liquid diet 2510.4 kJ(600 kcal) per day before operation for promoting gastric emptying; fasting diet before postoperative ventilation; clear liquid diet 1673.6 to 2510.4 kJ (400 to 600 kcal) per day after postoperative ventilation (liquid intake >2000 ml); low fat liquid diet 2928.8 to 3765.6 kJ (700 to 900 kcal) per day (protein 60 g per day at least, 2000 ml liquid) 2 weeks after the operation; semi-liquid diet 1 month after operation and gradually normal diet. All the 22 patients were followed up at 1 week, 1, 3, 6 months after operation on time. Changes of body weight, waist circumference, hip circumference, body mass index(BMI), blood glucose indexes induding fasting blood glucose(FBG), 2-hour postparandial blood glucose(PBG), fasting C-peptide, 2-hour postprandial C-peptide, fasting serum inculin(FINS), 2-hour postprandial inculin(INS), HbAlc, blood pressure and blood lipid indexes were observed and analyzed before and 1 week, 1, 3, 6 months after operation.

RESULTSThe average age of 22 patients (10 men and 12 women) was 38.6 years (18 to 66 years). The duration of diabetes varied from 1 month to 15 years. Comorbidity included 12 patients of high blood pressure, 14 of fatty liver, 1 of coronary heart disease, 1 of gout, 1 of chronic thyroiditis and 1 of menstrual disorder. LSG was performed successfully in all the patients and no severe complications and transference to laparotomy occurred. As compared to pre-operation, at 6 months after operation, the average body weight decreased from (103.9±20.2) kg to (80.9±12.6) kg (t=6.294, P=0.000), waist circumference from (118.6±13.8) cm to (96.4±8.0) cm (t=6.331, P=0.000), hip circumference from (116.9±12.6) cm to (104.0±7.7) cm (t=3.854, P=0.000), BMI from (36.2±5.9) kg/mto (27.9±3.5) kg/m(t=5.630, P=0.000), showing a decreasing trend over time. There was no underweight patient after 6 months follow-up. As compared to pre-operation, at 6 months after operation, the average FBG reduced from (7.4±1.4) mmol/L to (6.0±0.9) mmol/L (t=3.172, P=0.003), 2 h PBG from (14.1±4.9) mmol/L to (7.5±2.2) mmol/L (t=7.026, P=0.000), FINS from (160.0±71.9) mIU/L to (43.8±20.8) mIU/L (t=7.259, P=0.000), 2-hour postprandial INS from (437.6±261.4) mIU/L to (140.5±104.6) mIU/L (t=5.858, P=0.000), fasting C-peptide from (1.1±0.6) μg/L to (0.7±0.3) μg/L (t=3.560, P=0.000), 2-hour postprandial C-peptide from (2.5±0.9) μg/L to (1.5±0.7) μg/L (t=3.865, P=0.000), HbAlc from (8.0±1.6)% to (5.9±0.6)% (t=5.953, P=0.000), showing a decreasing trend over time except FBG, 2h postprandial C-peptide and HbAlc(all P<0.05). FBG and 2-hour PBG of 16 patients returned to normal 3 months after the operation. Blood pressure and trigly ceride decreased obviously 6 months after operation compared to pre-operation with significant difference(P<0.05). At 6 months after operation, blood pressure of 8 comorbidity patients with high blood pressure became normal (8/12, 66.7%) and of 4 patients improved(4/12, 33.3%); B ultrasound examination revealed normal in 11 comorbidity patients with fatty liver(11/14,78.6%) and improvement in 3 patients (3/14,15.4%). Blood uric acid of the gout patient and the menstruation of the menstrual disorder patient returned to normal 3 months and 1 month after the operation respectively.

CONCLUSIONAs for obese patients with T2DM undergoing LSG, reasonable nutrition management is helpful to decrease body weight, and to obtain an ideal improvement of blood glucose and blood lipid levels.

Adolescent ; Adult ; Aged ; Bariatric Surgery ; Blood Glucose ; physiology ; Body Weights and Measures ; C-Peptide ; blood ; physiology ; Caloric Restriction ; Combined Modality Therapy ; Comorbidity ; Coronary Disease ; complications ; Diabetes Mellitus, Type 2 ; complications ; therapy ; Diet Therapy ; methods ; Diet, Diabetic ; Endoscopy ; Fatty Liver ; complications ; surgery ; Female ; Food, Formulated ; Gastrectomy ; Glycated Hemoglobin A ; physiology ; Gout ; complications ; surgery ; Hashimoto Disease ; complications ; Humans ; Hypertension ; complications ; surgery ; Insulin ; blood ; physiology ; Lipids ; blood ; physiology ; Male ; Menstruation Disturbances ; complications ; surgery ; Middle Aged ; Obesity ; complications ; therapy ; Perioperative Care ; methods ; Thyroiditis ; complications ; Treatment Outcome ; Triglycerides ; blood ; physiology