This paper reported a sporadic case of a 29-year-old Han female diagnosed with tuberous sclerosis complex (TSC) by next generation sequencing (NGS),one of genetic analysis techniques.She was admitted because of recurrent intractable seizure for 26 years,dizziness and headache for 3 months.Physical examination revealed angiofibromas over her face,shagreen patches in her lower back area,and hypomelanotic macules around her limbs and body.Cranial MRI manifested lesions on lateral ventricles,cerebellar vermis and left temporal lobe with abnormal signal changes on both sides of extensive cerebral cortex.A pathogenic and heterozygous missense mutation,c.T1967C,in exon 16 of her TSC1 gene was found via genetic tests,which has not yet been reported before.

Animals ; Body Water ; Brain ; anatomy & histology ; Male ; Organ Size ; Rats ; Rats, Wistar ; Specific Gravity

Objective To explore the executive function in clinical subtypes of attention deficit hyperac?tivity disorder( ADHD) . Methods 19 children with ADHD/ inattentive type( ADHD?I) ,13children with ADHD/hyperactive?impulsive( ADHD?HI) 33 children with ADHD/combined type ( ADHD?C ) and 30 normal children were tested by Stroop test ( included Stroop C and Stroop CW) ,modified Wisconsin card sorting test( M?WCST) , tower of Hanoi,digital span and verbal fluency. Results The scores of Stroop C and Stroop CW,digit inverse reci?ting,tower of Hanoi and WCST in the children with ADHD were worse than those in normal control((104.8±4.0), (105.9±4.2),(104.8±3.7),(104.8±4.0), P<0.05;(84.0±9.2),(84.8±7.9),(78.2±7.8),(92.2±7.1), P<0.01;(4.0±1.8),(3.7±1.2),(3.8±1.5),(5.1±1.6), P<0.01;(3.0±1.0),(3.3±1.0),(2.7±1.3),(3.8±1.3), P<0.01;(4.1±1.6),(4.2±1.9),(4.3±2.1),(5.4±1.7), P<0.05;(6.6±3.2),(6.7±2.4),(8.0±2.9),(5.3± 2.4), P<0.01;(10.2±2.8),(11.1±3.8),(12.3±4.0),(9.4±3.2), P<0.05). The scores of Stroop CW in the chil?dren with ADHD?C were worse than those in other two subtypes(P<0.01). Conclusion The executive functions of the chil?dren with ADHD are impaired,including poor response inhibition,working memory,planning and cognitive flexibility. The dysfunction of response inhibition is possible an index to discriminate the subtypes of ADHD.

Objective To investigate the value of plasma troponin ,B-type natriuretic peptide and D-dimer in the clinical diagnosis of acute pulmonary embolism .Methods A total of 116 patients with acute pulmonary embolism were randomly selected and divided into high-risk group and low-risk group according to the patient′s condition ,58 patients in each group .Enzyme-linked immunosor-bent assay was used to detected levels of plasma troponin ,B-type natriuretic peptide and D-dimer .Results The plasma troponin and B-type natriuretic peptide levels in the high-risk group were significant higher than those of the low-risk group(P<0 .05) ,but there was no significant difference on D-dimer level(P>0 .05) .The positive rate of plasma troponin(61 .21% )and B-type natriuretic pep-tide(74 .14% )were significant higher than that of D-dimer(36 .21% ) ,the differences were significant(P<0 .05) .The sensitivity of D-dimer was 81 .4 % ,specificity was 86 .7% .The sensitivity of plasma troponin was 95 .6% ,the specificity was 86 .7% .The sensi-tivity of B-type natriuretic peptide was 97 .1% ,the specificity was 95 .9% .The sensitivity and specificity of plasma troponin and B-type natriuretic peptide were significant higher than D-dimer(P<0 .05) .Conclusion Plasma troponin ,B-type natriuretic peptide and D-dimer have certain implications for the clinical diagnosis of acute pulmonary embolism ,but plasma troponin ,B-type natriuretic peptide has better sensitivity and specificity compared with D-dimer .

Agricultural Workers' Diseases ; Agriculture ; Humans

Objective:To study the cognitive function and brain white matter fiber change in major depressive patients prior and post-treatment.Methods:Eleven major depressed patients were given antidepressants for 10 weeks, and their conditions were evaluated using 24-item Hamilton Depression Scale(HAMD).The cognitive function was determined by using Wisconsin Card Sorting Test(WCST),part of Wechsler memory scale and diffusion tensor ima- ging(DTI)was scanned before and after treatment.11 healthy people as control group were involved and given the same tests at the same time.Results:(1)The WCST scores of patients increased significantly after treatment(prior treatment Cc:1.6?1.6,Re:67.9?20.0,Rpe:51.5?24.8;post treatment Ce:4.0?2.1,Re:43.2?18.8,Rpe:22.8?16.0,P=0.001/0.000/0.003).There was no difference in number sequence memory in Wechsler memory scale.No difference was found between patients after treatment and control group in either WCST or number sequence memory.The patients made significant improvement in the total score of HAMD after treatment(16?14/54?13,t=6.60,P

Objective To study the relationship between FAB‐classifying standard and immunophenotype of leukemia in clinical diagnostic and treatment .Methods There were 462 cases of leukemia according to FAB‐classifying standard and 34 cases by immu‐nophenotype in our hospital from 2011 to 2013 .The results of FAB‐classifying standard and immunophenotype were statisticed and compared .Results Among the 462 cases ,there were 171 acute myeloid leukemia (AML) ,50 acute lymphoblastic leukemia (ALL) , 76 chronic leukemia ,3 rare types ,56 unclear types and 27 mismatched according the FAB‐classifying standard .The diagnostic rate was 82 .03% .34 cases of immunophenotype included 29 single phenotype ,4 double phenotypes and 1 unknown .The diagnosis rate was 97 .06% .CD13 and CD33 have high positive express in AML ;CD34 and HLA‐DR do not express in M3 ;CD7 which was known as a lymphatic antigen also was founded in AML .Conclusion The combing use of FAB‐classifying standard and immunophenotype can improve diagnostic rate ,and immunophenotype has an important role in differentiating different subtypes of leukemia .

Objective:To investigate the prognostic value of estrogen receptor (ER), progesterone receptor (PR), and Ki-67 in breast can-cer patients receiving neoadjuvant chemotherapy (NAC) and explore the association of chemotherapy regimens and cycles with the outcome of NAC. Methods:Clinical data of cancer patients receiving NAC were retrospectively analyzed. All the patients were admit-ted in Tianjin Medical University Cancer Institute and Hospital from January 2015 to December 2015. All statistical analyses were per-formed using SPSS version 19.0. The relationship among the outcome of NAC, molecular subtype, expression levels of ER, PR, and Ki-67, and chemotherapy regimens and cycles was investigated. Results:Only five HER-2(+) patients accepted the addition of trastuzum-ab in treatment, and few cases were excluded from the statistical analysis based on the effect of chemotherapy regimens. The effec-tiveness of NAC was positively correlated with the expression of Ki-67 whereas negatively correlated with the expression levels of ER and PR (P<0.05). In patients receiving NAC, the patients with Luminal subtype had worse outcome than those with non-Luminal sub-type (P=0.033). The invalid efficacy of pathologic evaluations of Luminal and non-Luminal NAC were 10.1%and 1.3%, respectively. No significant difference was found in the outcome among patients receiving TE, TEC, or EC-T;however, patients who received more than four cycles of NAC had better outcome than others (P=0.016). The outcome was statistically significant when the cut-off value of Ki-67 was 25%. Conclusion:Ki-67 proliferative index could be used as a prognostic marker to NAC in breast cancer patients. The cut-off value of Ki-67 should be determined on the basis of the data of each cancer patient. The curative effect of NAC was poor, and Luminal pa-tients with chemotherapy were insensitive and could be considered for surgical treatment. Patients who received less than four cycles of NAC had worse outcome than others, and prompt NAC foot treatment could improve the efficiency.

Objective To analyze the laws of acupoint selection of acupuncture for generalized anxiety disorder (GAD); To provide references for clinical treatment.Methods Computers were used to search articles about acupuncture for GAD from China National Knowledge Infrastructure (CNKI), Wanfang Database Resource System, Chinese Scientific Journal Database (VIP database) and Chinese BioMedical Literature (CBM) from their respective founding dates to Dec. 31, 2015. The corresponding database was established with NoteExpress2, and the laws of acupoints were analyzed.Results Totally 41 articles were included, including 56 acupuncture prescriptions, involving 50 acupoints in 14 meridians. The frequency for acupoint selection was 287 times. There were 49 main acupoints (225 times of acupoint selection, accounting for 98.0%) and 23 matching acupoints (62 times of acupoint selection, accounting for 46.0%) in the treatment of GAD. Main acupoints with high frequency were Baihui (GV20), Shenmen (HT07), Neiguan (PC06), Sanyinjiao (SP06) and Yintang (GV29). Matching acupoints with high frequency were Zusanli (ST36), Taichong (LR3), Neiguan (PC06), Shenmen (HT07), and Fenglong (ST40). Selecting acupoints along meridian mainly depended on Governor Meridian, Taiyang Bladder Meridian of Foot, Shaoyin Heart Meridian of Hand and Jueyin Pericardium Meridian of Hand.ConclusionPrinciples of acupuncture for GAD is treatment determination from heart and brain, emphasizing syndrome differentiation and identification of diseases, and the clinic mainly adopts acupoints along meridian with symptomatic acupoints treatment.

Objective To evaluate the clinical effects of platelet-rich plasma in treatment of DeepⅡburn wounds. Methods Sixty eight cases of inpatients with Deep Ⅱburns were selected, whose age were from 1 to 65 years and their burn areas were between 5%~62%of total body surface area (TBSA). Deep gradeⅡburn of each sample was divided into two parts. Part A was the treatment group and part B was the control group.The burn wounds in the treatment group were treated with platelet-rich plasma and the counterpart in the control group were treated with SD-Ag. Healing time ,recovering rate and the frequency of dressing changes,frequency of changing the most innerlayer gauze and the rate of wound infection were also analyzed. Finally the laboratory abnormalities and adverse effect were monitored regularly. Results The healing time of the treatment group (16.5±3.1 ) d was shorter than that of the control group (19.5±3.8 ) d. The recovering rate of the treatment group was higher than that of the control group on the 14th and 17th day after treatment. There were statistically sig?nificant differences between these two groups (P<0.05). After two weeks’treatment, the internal and external dressing per?meability into wet gauze layers were 20.6 ± 1.7, which were significantly decreased than that in the control group 23.3 ± 5.9. The frequency of dressing changes was(7.2±1.1)times in treatment group versus(9.2±1.4)times in control group and the frequency of changing the inner most layer gauze was( 2.3±0.6)times in the treatment group versus(5.3±1.3)times in con?trol group. There were 5 inflammation reaction cases in the treatment group, but 13 cases in the control group. However, there was no statistic significance between the two group in the outcomes of bacterial culture, the laboratory abnormalities and the adverse effect. Conclusion Platelet-rich plasma can remarkably shorten the healing time,improve healing rate,re?duce frequency of dressing change and promote wound healing for deepⅡburn wound. PRP is a potential safety reagent in treating deepⅡburn wound.