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81.
Vanessa L Romanelli Tavares Christopher T Gordon Roseli M Zechi-Ceide Nancy Mizue Kokitsu-Nakata Norine Voisin Tiong Y Tan Andrew A Heggie Siulan Vendramini-Pittoli Evan J Propst Blake C Papsin Tatiana T Torres Henk Buermans Luciane Portas Capelo Johan T den Dunnen Maria L Guion-Almeida Stanislas Lyonnet Jeanne Amiel Maria Rita Passos-Bueno 《European journal of human genetics : EJHG》2015,23(4):481-485
Auriculocondylar syndrome is a rare craniofacial disorder comprising core features of micrognathia, condyle dysplasia and question mark ear. Causative variants have been identified in PLCB4, GNAI3 and EDN1, which are predicted to function within the EDN1–EDNRA pathway during early pharyngeal arch patterning. To date, two GNAI3 variants in three families have been reported. Here we report three novel GNAI3 variants, one segregating with affected members in a family previously linked to 1p21.1-q23.3 and two de novo variants in simplex cases. Two variants occur in known functional motifs, the G1 and G4 boxes, and the third variant is one amino acid outside of the G1 box. Structural modeling shows that all five altered GNAI3 residues identified to date cluster in a region involved in GDP/GTP binding. We hypothesize that all GNAI3 variants lead to dominant negative effects. 相似文献
82.
Substance P (SP) and calcitonin gene-related peptide (CGRP) are putative transmitters in the central and peripheral (sensory) nervous systems. In this study, we examined the effects of dependence on and withdrawal from morphine and methadone on brain SP and CGRP content. Female Long Evans rats (70-100 g) were provided with plain drinking water or solutions containing opiate. No choice of drinking fluid was allowed. The maintenance level of each opiate (0.8 and 0.4 mg/ml for morphine and methadone, respectively) was continued for 4 days. Following an injection with naloxone (10 mg/kg i.p.) or saline, animals were decapitated 0, 20, or 60 min later and regional brain peptide content was measured by specific radioimmunoassays. SP and CGRP content in opiate-maintained and naive animals were similar following saline injection. However, following naloxone injection in morphine-maintained animals, SP content was elevated in the hypothalamus and midbrain at 20 min, but by 60 min was no longer distinguishable from basal (0 min) level. CGRP content was increased in the medulla oblongata and followed a comparable time course but, unlike SP, was not altered in the hypothalamus or midbrain. No alterations were observed in methadone-maintained animals. These results correlated with the peak of the behavioral morphine withdrawal syndrome and were consistent with the comparatively milder abstinence encountered in methadone medication. 相似文献
83.
Mr. Tiong -Ann Teoh F.R.C.S. Hak -Su Goh F.R.C.S. 《Diseases of the colon and rectum》1994,37(2):191-191
Adequate illumination during deep pelvic dissection in low anterior resection and abdominoperineal resection is sometimes difficult and frustrating, especially in deep narrow pelvises. Various methods of illumination are being used to overcome this problem. We present our technique of using the laparoscope as an excellent illumination tool for deep pelvic dissection in conventional surgery. 相似文献
84.
X.T. Tiong A. Nursara Shahirah V.C. Pun K.Y. Wong A.Y.Y. Fong R.G. Sy N.T. Castillo-Carandang E.E.K. Nang M. Woodward R.M. van Dam E.S. Tai K. Venkataraman 《Nutrition, metabolism, and cardiovascular diseases : NMCD》2018,28(8):856-863
Background and aim
Despite a growing body of evidence from Western populations on the health benefits of Dietary Approaches to Stop Hypertension (DASH) diets, their applicability in South East Asian settings is not clear. We examined cross-sectional associations between DASH diet and cardio-metabolic risk factors among 1837 Malaysian and 2898 Philippines participants in a multi-national cohort.Methods and results
Blood pressures, fasting lipid profile and fasting glucose were measured, and DASH score was computed based on a 22-item food frequency questionnaire. Older individuals, women, those not consuming alcohol and those undertaking regular physical activity were more likely to have higher DASH scores. In the Malaysian cohort, while total DASH score was not significantly associated with cardio-metabolic risk factors after adjusting for confounders, significant associations were observed for intake of green vegetable [0.011, standard error (SE): 0.004], and red and processed meat (?0.009, SE: 0.004) with total cholesterol. In the Philippines cohort, a 5-unit increase in total DASH score was significantly and inversely associated with systolic blood pressure (?1.41, SE: 0.40), diastolic blood pressure (?1.09, SE: 0.28), total cholesterol (?0.015, SE: 0.005), low-density lipoprotein cholesterol (?0.025, SE: 0.008), and triglyceride (?0.034, SE: 0.012) after adjusting for socio-demographic and lifestyle groups. Intake of milk and dairy products, red and processed meat, and sugared drinks were found to significantly associated with most risk factors.Conclusions
Differential associations of DASH diet and dietary components with cardio-metabolic risk factors by country suggest the need for country-specific tailoring of dietary interventions to improve cardio-metabolic risk profiles. 相似文献85.
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90.
Tun Kiat Ko Charles T.H. Chuah John W.J. Huang King-Pan Ng S. Tiong Ong 《Oncotarget》2014,5(19):9033-9038
BCR-ABL1-specific tyrosine kinase inhibitors prolong the life of patients with chronic myeloid leukemia (CML) but cannot completely eradicate CML progenitors. The BH3 mimetic, ABT-263, targets prosurvival BCL2 family members, and has activity against CML progenitors. However, the inhibitory effect of ABT-263 on BCL-XL, which mediates platelet survival, produces dose-limiting thrombocytopenia. A second-generation BH3 mimetic, ABT-199, has been developed to specifically bind BCL2 but not BCL-XL. We determined the activity of ABT-199 against CML cell lines, as well as primary CML and normal cord blood (NCB) progenitors. We find that BCL2 expression levels predict sensitivity to ABT-199 in CML and NCB progenitors, and that high NCB BCL2 levels may explain the reported hematologic toxicities in ABT-199-treated patients. Also, while single agent ABT-199 has modest activity against CML progenitors, when combined with imatinib, ABT-199 significantly enhances imatinib activity against CML progenitors at concentrations predicted to avoid hematologic toxicities. 相似文献