Objective: To study the relationship between blood pressure (BP) rhythm and cognitive function in elder hypertension patients. Methods: Our research included in 2 groups: Hypertension group:n=74 patients≥80 years and Control group, n=36 elder subjects without hypertension. 24-hour ambulatory blood pressure monitoring (ABPM) was conducted in both groups. According to nocturnal BP reduction rate, Hypertension group was further divided into 4 subgroups as Dipper type BP subgroup, Non-dipper type BP subgroup, Anti-dipper type BP subgroup and Super-dipper type BP subgroup. Cognition function was evaluated by Mini-menta state examination (MMSE) form, MMSE score was compared among different groups and subgroups. Results: By MMSE score, the abilities of orientation, memory, attention, calculation and recall were different between Hypertension group and Control group,P<0.05. By MMSE score, the abilities of orientation and memory were different between Anti-dipper type BP subgroup and Dipper type BP subgroup,P<0.05; the abilities of orientation, memory, attention, calculation and recall were different between Non-dipper type BP subgroup and Dipper type BP subgroup,P<0.05; the memory was different between Super-dipper type BP subgroup and Dipper type BP subgroup,P<0.05. Conclusion: In elderly hypertension patients, compared to those with normal BP rhythm, the abnormal BP rhythm patients had the higher probability to suffer from cognitive dysfunction which was mainly as decreased abilities of orientation, memory, attention, calculation and recall.

Objective To investigate the clinical value of color Doppler ultrasound (CDFI) in the diagnosis of carotid atherosclerosis lesion in patients with acute stroke.Methods Totally 60patients with acute cerebral infarction were examined with CDFI to observe vessel diameter and stenosis degree of common carotid artery,internal carotid artery and external carotid artery and the results were compared with digital subtraction angiography (DSA) test.Results Among 60patients,normal ultrasound diagnosis was in 28 cases,occlusion and stenosis in 32 cases,stenosis in 25 cases; mild,moderate and severe stenosis were in 18,20,12 vessels,occlusion in 7 cases,14vessels.DSA examination results showed normal in 29 cases,stenosis and occlusion in 31 cases,stenosis in 26 cases,mild,moderate and severe stenosis of the 18,16,18 vessels; occlusion in 5 cases,10 vessels.The consistency test results between carotid artery color Doppler ultrasound and DSA were Kappa=0.786,0.667(P＜0.05).All carotid DSA results were considered as gold standard,CDFI diagnosis of moderate to severe stenosis was in high accuracy compared with DSA.Conclusions CDFI in the diagnosis of different degrees of carotid stenosis is in good agreement with DSA diagnosis,and may replace invasive DSA diagnosis of moderate to severe stenosis.

Objective To prepare recombinant human adenovirus type 3 expressing Norovirus cap-sid protein gene(Noro-orf2). Methods The cDNA for Noro-orf2 was amplifed by RT-PCR from stool of in-fantile gastroenteritis and cloned into the adenovirus shuttle vector pBSE3CMV-egfp. The vector pBSE3CMV-Nor was linearized with EeoR Ⅴ and Not Ⅰ, and transformed into E. coil BJ5183 with lined edenovirus ge-nomic DNA pLasmid pBRAdv3 by Rsr Ⅱ. The identification of recombinant adenovirus plasmid pBRAdv3E3dNor was performed by PCR, enzyme digestion and DNA sequencing. Then pBRAdv3E3dNor was digested with AsiS Ⅰ and transfeeted into Hep-2 cells with LipofectAMINETM 2000 to package recombi-nant adenovirus particles. Results Noro-orf2 was successfully inserted into the shuttle vector. The recombi-nant adenoviral plasmid pBRAdv3E3dNor was generated by homologous recombination in E. coil BJ5183 and confirmed by PCR and enzyme digestion. The recombinant adenovirus was successfully packaged and puri-fied. Norovirus eapsid protein gene expression was confirmed in Hep-2 cells by immunecytochemistry assay. Conclusion The recombinant type 3 adenovirus expressing Norovirus eapsid protein gene was successfully constructed. This study laid a foundation for developing vaccine against Norovirus.

Objective To explore the clinicalpathological characteristics of Lynch syndrome associated ovarian cancer.Methods Totally 260 cases ovarian cancer patients were admitted to Tianjin Medical University General Hospital during Jan.2004 and Jan.2011,among which 10 patients( LS group) belonged to Lynch syndrome associated ovarian cancer according to Amsterdam Ⅱ criteria.One hundred ovarian cancer patients without any family cancer history were enrolled randomizely as control group (sporadic group).Results Lynch syndrome associated ovarian cancer accounted for 3.8％ ( 10/260),the incidence rate of ovarian cancer for female family members of Lynch syndrome was 8.7％ ( 10/115 ).Mean age at time of diagnosis in LS group was (46 ±7) years,significantly earlier than that in sporadic group [ (56 ±11 ) years,P ＜ 0.05 ].There was no statistical difference between two groups in histological type or International Federation of Gynecology and Obstetrics ( FIGO ) stage ( P ＞ 0.05 ).Most of the tissue differentiation in LS group were well or moderate differentiated,there was statistical difference between the two groups(9/10 vs.55％,P ＜0.05).The 3-year and 5-year survival rate in LS group were 87.5％ and 52.5％respectively,compared with 55.4％and 22.7％ in sporadic group(all P＜0.05).Conclusion Compared with sporadic ovarian cancer,Lynch syndrome associated ovarian cancer is more likely present as the clinicalpathological characteristics of early age of onset,serous adenocarcinoma,lower grade and better prognosis.

Objective Multiple carboxylase deficiency(MCD) is an autosomal recessively inherited defect of organic acid metabolism.The underlying mechanism is biotinidase(BT) or holocarboxylase synthetase(HLCS) deficiency.The authors reported 15 cases of MCD(clinical characteristics,diagnosis and treatment) and outcomes of long-term follow-up.Methods The clinical data of 15 patients with MCD admitted to Guangzhou Women and Children's Medical Center between Aug.2001 and Feb.2013 were analyzed.The diagnosis was confirmed by urinary organic acid analysis with gas chromatography/mass spectrometry (GC/MS),blood enzymatic determination and gene analysis.The patients consisted of 12 male and 3 female.The onset age ranged from newborn infants to 16 months.Results 1.Remarkable elevations of urinary lactate,3-oxy-butyric acid,3-OH-isovalerate,methylcitrate,3-methylcrontonylglycine,3-OH-propionate were detected in all of 15 cases.Fourteen cases with HLCS deficiency and 1 case with BT deficiency were confirmed by gene analysis.2.Most of patients with HLCS deficiency presented in the neonatal period or early infancy.The main clinical manifestations were skin rash (14 cases),tachypnea (9 cases),developmental retardation (8 cases),vomiting(5 cases),poor feeding (3 cases),developmental regradation (1 case),convulsion (1 case).Laboratory evaluation showed persistent metabolic acidosis and varied degree of ketosis,lactic acidosis,hyperuricacidemia,ammoniemia and hypoglycemia.Biotin was given to 13 patients in 10 mg/d and their metabolic disorders were corrected within 48 h,except one who gave up treatment and died.Treatment with Biotin in 5 mg/d provided clinical stability and normal neurodevelopmental outcome on follow-up for 3-11 (6.47 ± 2.70) years.3.One patient with BT deficiency presented with severe neurological symptoms(impaired consciousness,limbs trembling,tachypnea with irregular respiratory rhythm) at 16 months old.Demyelination of corpus callosum was evident on magnetic resonance imaging.Biotin treatment was given to him on the second of onset,and 1-year follow-up indicated significant improvement of his clinical symptoms,but the right limb weakness did not completely recover.Conclusions The main clinical features of HLCS deficiency include frequent skin rash,tachypnea,and metabolic disorders.BT deficiency may produce variable neurologic manifestations including demyelination of corpus callosum.Urinary organic acid analysis with GC/MS is critical to the early diagnosis of MCD.Prompt biotin treatment is recommended to correct metabolic derangements and continued therapy is essential to the improvement of long-term prognosis.Delayed commencement of therapy in BT deficiency can result in irreversible neurological damage.

In recent studies some urea derivatives have been identified as potent anti-tuberculosis agents by targeting mycobacterial membrane protein large 3 (MmpL3). However, this compound series as exemplified by AU1235 exhibited poor in vitro pharmacokinetic profile. With AU1235 as the lead, we have identified a novel benzimidazole series as potential anti-tuberculosis agents by using scaffold hopping approach. Among these synthesized compounds, 2-aminobenzimidazole derivative 8b showed the potent anti-tuberculosis activity with the MIC value of 0.03 microg x mL(-1). This compound also showed improved metabolic stability compared to AU1235. Our investigation indicated that benzimidazole derivatives are the promising lead for further optimization as anti-tuberculosis agents.

For the study of muscle function and features during exercise, a multi-channel data acquisition system was developed, the overall design of the system, hardware composition, the function of system and so on have made a detail implements. The synchronous acquisition and storage of the surface EMG signal, joint angle signal, plantar pressure signal, ultrasonic image and initial results have been achieved.
Electromyography ; instrumentation ; Exercise ; Foot ; Humans ; Motion ; Muscle, Skeletal ; physiology

Objective:To observe the efficacy of anti-sensitive moisturizing tolerance-extreme cream combined with isotretinoin in the treatment of severe acne.Methods:Fifty patients with severe acne were selected in the Dermatology Clinic of the Third People＇s Hospital of Hangzhou from November 2018 to July 2019. They were randomly divided into the experimental group of 25 cases and the control group of 25 cases. The experimental group was treated with anti-sensitive moisturizing tolerance-extreme cream combined with isotretinoin orally. The control group was treated with isotretinoin orally alone. Before and after treatment for 56 days, lactate score, skin cuticle hydration (SCH), transepidermal water loss (TEWL) and skin physiological indexes were measured.Results:After 56 days of treatment, the TEWL and SCH of the control group were 15.75±3.31 and 10.13±3.62, the TEWL and SCH of the experimental group were 12.17±3.61 and 28.07±3.17, respectively; the difference was statistically significant ( T was 3.610 and 12.398, P was 0.002 and 0.000, respectively). The volume and depth of cyst nodule, scar depression, skin roughness, absolute value and area of erythema in the experimental group were significantly lower than those in the control group ( T was 2.280, 1.676, 2.332, 1.508, 4.813 and 3.637; P was 0.031, 0.011, 0.027, 0.040, 0.000 and 0.001, respectively). Conclusions:Anti-sensitive moisturizing tolerance-extreme cream combined with isotretinoin has a good effect on severe acne and it can reduce the barrier damage and other adverse reactions.

OBJECTIVECockayne syndrome is a rare disease and difficult to be recognized. This study aimed to expand the knowledge of the clinical and molecular characteristics of the children with Cockayne syndrome (CS).

METHODClinical data of two siblings with classic CS of Guangzhou Women and Children's Medical Center from July 2013 to November 2014 were obtained and analyzed. The whole DNA of peripheral blood was collected from two CS siblings and their parents. Amplification of all exons and adjacent introns for ERCC6 gene was conducted using PCR, and measurement of reaction product was performed to find mutation sites by two-way sequencing.

RESULTTwo affected siblings were males, and came from unconsanguineous parents, 7 years and 5 months old and 4 years and 8 months old, respectively. They were in treatment because of developmental and mental retardation for years. When they were younger than one year of age, their heights and weight were within normal limits. However, poor growth of height and weight and psychomotor retardation appeared after one and a half years of age, as well as skin and eye sensitivity to sunshine, hearing impairment, optic nerve atrophy, microcephaly, and deep-set eyes. The proband's height was 90.8 cm, and weight 9.1 kg, head circumference 41 cm, and chest circumference 44 cm when he was taken to hospital. The elder brother of the proband had a height of 92 cm, weight 11.2 kg, head circumference 41 cm, and chest circumference 44 cm when he was taken to hospital. When the proband was four and a half years old, ventricular enlargement, hypomyelination, and brain atrophy were detected for his elder brother at 7 years of age by cranial MRI. MRS imaging indicated that damages occurred at the left and right sides of dorsal thalamus, lobus insularis, along with the left half circle of central neurons. Symmetrical calcification on bilateral basal ganglia was found on the brain CT scan. Pathogenic compound heterozygous c. 1357C > T (p.Arg453Ter) and c. 1607T > G (p.Leu536Trp) mutations of ERCC6 gene were identified in the two siblings which were separately inherited from their unaffected parents.

CONCLUSIONCS children are usually normal at birth, however, they have severe clinical characteristics such as poor growth, psychomotor retardation, cerebral injury, microcephalus, deep-set eyes, and skin sensitivity to sunshine. ERCC6 gene mutation usually occurs, and it is easy to misdiagnose CS as cerebral palsy, primary microcephaly, and so on.

Asian Continental Ancestry Group ; Child ; Child, Preschool ; Cockayne Syndrome ; genetics ; DNA Helicases ; genetics ; DNA Mutational Analysis ; DNA Repair Enzymes ; genetics ; Exons ; Heterozygote ; Humans ; Magnetic Resonance Imaging ; Male ; Mutation ; Poly-ADP-Ribose Binding Proteins ; Polymerase Chain Reaction ; Siblings

OBJECTIVETo detect potential mutation of COL2A1 gene in two children suspected for Kniest dysplasia.

METHODSThe 54 exons and splicing regions of the COL2A1 gene were amplified with PCR and the product was subjected to direct sequencing.

RESULTSA missense mutation (c.905C>T, p.Ala302Val) was found in the coding region of the COL2A1 gene, which has been previously reported in abroad. The patients appeared to have short trunk dwarfism, enlarged joints and midface hypoplasia.

CONCLUSIONThe probands are the first cases of Kniest dysplasia described in China, and so was the p.Ala302Val mutation.

Base Sequence ; Child, Preschool ; China ; Cleft Palate ; genetics ; Collagen Diseases ; genetics ; Collagen Type II ; genetics ; Dwarfism ; genetics ; Exons ; Face ; abnormalities ; Humans ; Hyaline Membrane Disease ; genetics ; Male ; Molecular Sequence Data ; Mutation, Missense ; Open Reading Frames ; Osteochondrodysplasias ; genetics ; RNA Splicing