Objective To evaluate the precision of image guided radiotherapy (IGRT) for vertebra metastasis.Methods Cone-beam computed tomography (CBCT, ELEKTA SynergyTM) scanning was performed to 15 patients with vertebra metastasis treated with three dimensional conformal radiation therapy (3DCRT) or intensity modulated radiation therapy (IMRT).CBCT images were then compared with corresponding planning images to calculate the position errors.The isocenter was adjusted based on the errors calculated , CBCT scanning was re - performed , and the new - errors were then calculated .Results Compared to the firstly collected CBCT images, the average errors of 4 cases of cervical bone metastases in x (left-right), y (cervical-caudal), and z (anterior-posterior) directions were 1.8 mm, 0 mm and 3.6 mm respectively.After adjusting the isocenter, the new-errors were reduced to 0.1 mm, 0.4 mm and 0.3 mm.For 11 cases of thoracic and lumbar bone metastases, the average errors in x, y, and z directions were 1.9 mm, 0.1 mm, and -2.1 mm, respectively.While the new-errors were reduced to 0.9 mm, 0.5 mm and -0.3 mm.Conclusions IGRT can improve the precision of radiotherapy for vertebra metastasis to less than 2 mm, which provides a possibility of dose escalation in GTV while reduce the dose in the spinal cord.

Objective To explore the relationship between visfatin and mild cognitive impairment(MCI)in patients with type 2 diabetes mellitus(T2DM).Methods A perspective study involving 75 hospitalized T2DM patients were divided into groups with(MCI,n=35)and without (NMCI,n =40)mild cognitive impairment.Another 30 non-diabetic patients were chosen as normal control(NC).Fasting plasma levels of glucose (FPG),insulin (FINS),lipid,glycosylated hemoglobin (HbAlc),HOMA-IR and visfatin were measured and calculated.Results The serum visfatin level was higher in MCI(28.81±3.32)μg/L than in NMCI(20.69±3.40)μg/L and NC(19.06±2.35)μg/L (F=96.491,P＜ 0.01).Visfatin was negatively correlated with Montreal Cognitive Assessment (MoCA) total score (MoCA-TS) (r =-0.646,P ＜ 0.01),but positively correlated with course of disease,waist hip ratio,FPG,HbAlc,FINS,HOMA-IR and triglyceride (r=0.282,0.276,0.318,0.496,0.339,0.433,0.309,P＜0.05 or P＜0.01).MoCA-TS was negatively correlated with course of disease,HbAlc,HOMA-IR,triglyceride,total cholesterol,low density lipoprotein cholesterol (r =-0.582,-0.365,-0.234,-0.330,0.277,-0.238,P＜0.05 or P＜0.01),but positively correlated with high density lipoprotein cholesterol(r=0.290,P＜0.05).Higher values of visfatin(OR =3.246,P＜0.01),HbAlc(OR=2.308,P＜0.01)and course of disease(OR=1.634,P＜0.05)were the risk factors for MCI.Conclusions The elevated visfatin level might be a risk factor for MCI in T2DM patients.

Objective To investigate the predictive value of abnormal multiples of the median (MoM) of second trimester maternal serum triple screening (STMSTS) markers for adverse pregnancy outcomes.Methods 16 000 singleton pregnancies at 15+0 to 20+6 weeks' gestation who underwent STMSTS between July 2010 and January 2013 in the First Hospital of Jilin University were recruited.Maternal serum AFP,free β-hCG (F-β-hCG) and unconjugated estriol (uE3) levels were measured using time-resolved fluoroimmunoassay,and then convened to MoM.LifeCycle 3.2 software was used to calculate risk,and a risk value greater than 1 in 270 or 1 in 350 was considered as high risk for trisomy 21 syndrome (Down syndrome,DS) and trisomy 18 syndrome (Edwards syndrome,ES),respectively.MoM of AFP more than 2.5was considered high risk for open neural tube defect (ONTD).Amniocentesis and karyotyping,ultrasound screening were advised for high risk women.AFP,F-β-hCG higher than 2.0 MoM or uE3 lower than 0.5MoM was considered as abnormal,respectively.The MoM of STMSTS marker between women with adverse pregnancy outcome and with normal outcome was compared.Results (1) The median MoM of AFP,F-β-hCG and uE3 was 0.91 MoM,0.94 MoM and 1.05 MoM,respectively.Of the 16 000 pregnant women,there was no statistical difference in the median MoM of triple screening marker at different weeks of gestation (P＞0.05).The positive rate of DS,ES and ONTD in women ≤35 years old (n=14 972) was 4.03％ (603/14 972),0.36％(54/14 972) and 0.29％(44/14 972) respectively.And in women＞35 years old(n=1 028),the positive rate was 24.51％ (252/1 028),1.95％ (20/1 028) and 0.78％ (8/1 028),respectively.There was a statistically significant difference of positive rate between the two groups(P＜0.05).(2) 9 cases of DS,1 case of ES and 1 ease of ONTD were found in the high risk group,and 2 cases of DS in the low risk group.The detection rate of DS,ES and ONTD was 9/11,1/1 and 1/1 respectively; and the positive predictive value was 1.05％(9/855),1.35％(1/74) and 1.92％(1/52),respectively.(3)The incidence of adverse outcome (group 1) was 1.49 ％(239/16 000).7 760 pregnant women in this study were healthy during pregnancy,so were their fetuses (group 2).There were significant differences in the age at delivery,body weight and markers' MoM of STMSTS between the two groups(P＜0.01).(4) In group 1,the rate of abnormal MoM of AFP or F-β-hCG was 7.95％(19/239) and 23.85％ (57/239),and the abnormal rate of MoM of uE3 was 4.18％(10/239).The rate of two abnormal MoM of markers was 5.02％(12/239); the rate that all three MoM were abnormal was 0.84％(2/ 239).However,in group 2,the rate of two abnormal MoM of markers was 0.14 ％(11/7 760); and the rate that all three MoM were abnormal was 0.There was a significant difference of abnormal MoM of maternal serum marker between the two groups (P＜0.01).Conclusions There is a relationship between abnormal marker of STMSTS and adverse outcomes.STMSTS show a high value in the detection of DS,ES and ONTD.

Objective To evaluate the application of cough reflex testing with various concentrations of citric acid for dysphagia post stroke. Methods 20 normal controls (NC), 20 stroke patients with dysphagia (SD) and 20 stroke patients without dysphagia (SND) were tested with cough reflex inhalated 4 kinds of dosage of citric acid: 0.2 mol/L, 0.4 mol/L, 0.6 mol/L and 0.8 mol/L. Results The incidence of pass (coughed twice or more) decreased in the SD compared with those in the NC as inhalated citric acid of 0.2 mol/L and 0.4 mol/L (P< 0.05), and decreased under 0.4 mol/L compared with the SND (P<0.05). There was no significant difference between the SND and the NC (P>0.05). 90% of the NC passed as inhalated citric acid of 0.4 mol/L; however, it was 45% in the SD, and increased when they inhalated more dosage of citric acid (P<0.05). The incidence of pass decreased under 0.2 mol/L citric acid in the SND compared with other concentration (P<0.05). The result of the test was reliable interrater (κ=0.97). The incidence of cough was consistent of 96.8% with the same concentration. No asthma and asphyxia was observed. Conclusion Cough reflex testing with citric acid inhalation can be used to assess the defensive function of airway in lower concentration for dysphagia after stroke.

Objective To investigate cartilage oligomeric matrix protein( COMP) gene mutation in a three-generation pedigree with two cases of pseudoachondroplasia, and to definitize genotype-phenotype correlation. Methods The clinical data and peripheral blood were collected from the patients with pseudoachondroplasia and their family members. All the 19 exons and their flanking sequences of COMP gene in two patients and three unaffected family numbers and 50 unrelated individuals were analyzed by PCR amplification and direct sequencing. Results The proband, a 6-year-old girl presented with typical clinical features of pseudoachondroplasia, including disproportionate short limb dwarfism, staggering gait, double genu varus deformity, and wider clinical and imaging long bone metaphysis. The 33-year-old father showed a similar manifestation including disproportionate short limb dwarfism and double genu varus deformity, and was performed correcting operation on lower limbs for double genu varus at the age of 10 years. DNA sequencing analysis of the COMP gene revealed a del mutation ( c. 1417 1419delGAC)in exon 13 in two patients with pseudoachondroplasia, but not in the other unaffected members from the pedrgree and 50 control subjects. Conclusion A del mutation c. 1417 1419delGAC of COMP gene may contribute to the disease in the pedigree.

Objective To evaluate the efficacy of superficial temporal artery(STA)pressure-guided selective cerebral perfusion(SCP)during deep hypothermic circulatory arrest(DHCA)in patients undergoing aortic arch surgery.Methods Ninety-six patients of both sexes,aged 35-64 yr,with body mass index of 19-23kg/m2,of American Society of Anesthesiologists physical status Ⅲ or Ⅳ,undergoing aortic arch surgery,were divided into STA pressure group(group A)and clinical experience group(group B)using a random number table,with 48 patients in each group.In group A,STA catheterization was performed after tracheal intubation,and arterial pressure was monitored.SCP flow was adjusted to maintain the target value of STA pressure between 30 and 40mmHg during DHCA in group A.SCP flow rate was set at 5-10ml·kg-1·min-1 according to clinical experience in group B.The volume of fluid perfused during SCP,emergence time,extubation time and duration of intensive care unit stay were recorded.Neurological function was evaluated during length of hospitalization after surgery,and the development of permanent and transient neurological dysfunction and mortality in hospital were recorded.Results Compared with group B,the volume of fluid perfused during SCP was significantly decreased,the emergence time,extubation time and duration of intensive care unit stay were shortened,the incidence of permanent and transient neurological dysfunction(2% and 4%,respectively)was decreased(P < 0.05),and no significant change was found in the mortality rate in hospital in group A(P>0.05).Conclusion Maintaining STA pressure at 30-40mmHg is a reliable method for guiding SCP during DHCA in patients undergoing aortic arch surgery.

BACKGROUNDTo evaluate therapeutic outcome of limited stage small cell lung cancer treated with chemotherapy alone or combined with radiation therapy with different doses.

METHODSA retrospective analysis was performed in 128 limited-stage small cell lung cancer patients who were treated with three different ways of treatment, from February 1988 to March 1998 in Heilongjiang Cancer Hospital. All patients were pathologically proved. Forty-two patients received chemotherapy alone (C), 48 patients were treated by interdigitating chemoradiotherapy (IDG) and other 38 patients received concurrent chemoradiotherapy (CON). For thoracic radiation, 20 patients received a dose of ≤45 Gy, 23 ≥60 Gy, and 43 > 45 Gy but < 60 Gy .

RESULTSThe 3-year survival rates were 23.7%, 20.8% and 4.8% in the CON, the IDG and the C groups respectively. There was a significant difference between the CON and the C groups ( P < 0.05), as well as between the IDG and the C groups ( P < 0.05). There was no remarkable difference between the CON and the IDG groups ( P > 0.05). Loco-regional recurrence rate was significantly higher in ≤45 Gy group (55.0%) than that in ≥60 Gy group (8.7%)( P < 0.01).

CONCLUSIONSThe chemotherapy combined radiotherapy may improve the survival of patients with limited-stage small cell lung cancer. Dose of thoracic radiation might be related to the loco-regional recurrence.

The clinical and genetic data were retrospectively analyzed in a pedigree with pseudohypoparathyroidism type Ⅰ a.Clinically typical Albright hereditary osteodystrophy (AHO),hypocalcemia,hyperphosphatemia,and PTH- and TSH-resistance were manifested in the proband,but not in his brother and parents.The proband's symptom of epilepsy was alleviated by treatment with calcium and vitamin D,which was of no avail in regard to AHO.After GNAS1 genes were sequenced and compared with the GenBank data among the family members,a deletion of c.1107_1108 ( p.Glu370ArgfsX11 ) in exon l3 of GNAS1 gene leading to a frameshift mutation was found in the proband and his mother.It suggested that the GNAS1 gene mutation might be related to the pathogenesis of the disease.

Objective To investigate the effect and its underlying mechanism of Linagliptin on mild cognitive impairment (MCI) in elderly type 2 diabetes mellitus (T2DM) patients.Methods Montreal Cognitive Assessment(MoCA)scale was used to prospectively screen T2DM patients for MCI in our hospital from December 2016 to June 2017,and a total of 98 elderly T2DM patients with MCI were recruited.They were randomly divided into the linagliptin group(Linagliptin + metformin,n=50)and the non-linagliptin group(gliclazide + metformin,n =48).Serum fasting plasma glucose (FPG),glycosylated hemoglobin(HbAlc),blood lipids and amyloid β-protein 1-42 (Aβ1-42) levels were determined,and MoCA score and homeostasis model assessment of insulin resistance(HOMA-IR)were calculated,and were compared between the two groups before and after 24 weeks of treatment.Results In the linagliptin group,serum FPG,HbA1c,HOMA-IR,Aβ1-42 levels were significantly decreased and MoCA score was increased after 24 weeks of treatment as compared with pre-treatment [(7.29± 1.00) mmol/L vs.(9.16 ± 1.60) mmol/L,(7.19 ± 0.99) ％ vs.(9.36 ± 1.07) ％,(3.05 ± 1.12) vs.(4.05±1.30),(0.463±0.093)g/L vs.(0.528±0.110)g/L,(24.48± 1.18) vs.(23.22± 1.37),all P＜0.05].In the non-linagliptin group as control,FPG and HbA1c levels were decreased after 24 weeks of treatment as compared with pre-treatment[(7.23±1.09)mmol/L vs.(9.20± 1.75) mmol/L,(7.23±1.03)％ vs.(9.69± 1.18)％,both P ＜ 0.05],while there was no significant difference in HOMA IR,Aβ1-42 level and MoCA score[(3.95 ± 1.00) vs.(4.19± 1.13),(0.517± 0.113)g/L vs.(0.526±0.119)g/L,(23.21±1.18) vs.(23.00±1.32),all P＞0.05].It is worth to pay close attention to the key discovery of this paper that HOMA-IR and Aβ1-42 levels were significantly lower and MoCA score was significantly higher in the linagliptin group than in the non-linagliptin group after 24 weeks of treatment(all P＜0.05).Conclusions Linagliptin as one of DPP-4 enzyme inhibitors can improve the cognitive function in elderly patients with T2DM,which might be relevant to reducing serum Aβ level and improving HOMA-IR.DPP-4 enzyme inhibitor may be a good option for treatment of mild cognitive dysfunction in T2DM patients in the future.

OBJECTIVE: To identify pathogenic variants in 5 sporadic patients and two Chinese pedigrees affected with 17-hydroxylase deficiency (17-OHD). METHODS: Peripheral blood samples were collected with informed consent. Variants of CYP17A1 gene were screened by PCR and Sanger sequencing. Suspected mutations were validated in other members of the pedigrees. RESULTS: Gene sequencing has identified a homozygous c.985_987delTACinsAA (Y329Kfs) mutation in exon 6 of the CYP17A1 gene in 4 patients and the sister of case 3. Case 1 was found to harbor compound heterozygous mutations c.1459_1467del9 (p.D487_F489del) and c.1244-3C>A. The parents and brother of cases 2 and 5 were heterozygous carriers of a c.985_987delTACinsAA(Y329Kfs) mutation. CONCLUSION Mutations of the CYP17A1 gene probably underlie the pathogenesis of 17-OHD, for which c.985_987delTACinsAA(Y329Kfs) is the most common. The c.1244-3C>A is a novel mutation. Above results have facilitated genetic counseling for the affected families.
Adrenal Hyperplasia, Congenital ; genetics ; Exons ; Female ; Humans ; Male ; Mutation ; Pedigree ; Steroid 17-alpha-Hydroxylase ; genetics