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| 1 | SLC26A4 mutation testing for hearing loss associated with enlargement of the vestibular aqueduct显示文摘Pendred syndrome(PS) is characterized by autosomal recessive inheritance of goiter associated with a defect of iodide organification, hearing loss, enlargement of the vestibular aqueduct(EVA), and mutations of the SLC26A4 gene. However, not all EVA patients have PSor SLC26A4 mutations. Two mutant alleles of SLC26A4 are detected in 1/4 of North American or European EVA populations, one mutant allele is detected in another 1/4 of patient populations, and no mutations are detected in the other 1/2. The presence of two mutant alleles of SLC26A4 is associated with abnormal iodide organification, increased thyroid gland volume, increased severity of hearing loss, and bilateral EVA. The presence of a single mutant allele of SLC26A4 is associated with normal iodide organification, normal thyroid gland volume, less severe hearing loss and either bilateral or unilateral EVA. When other underlying correlations are accounted for, the presence of a cochlear malformation or the size of EVA does not have an effect on hearing thresholds. This is consistent with observations of an Slc26a4 mutant mouse model of EVA in which hearing loss is independent of endolymphatic hydrops or inner ear malformations. Segregation analyses of EVA in families suggest that the patients carrying one mutant allele of SLC26A4 have a second, undetected mutant allele of SLC26A4, and the probability of a sibling having EVA is consistent with its segregation as an autosomal recessive trait. Patients without any mutations are an etiologically heterogeneous group in which siblings have a lower probability of having EVA. SLC26A4 mutation testing can provide prognostic information to guide clinical surveillance and management, as well as the probability of EVA affecting a sibling. | Taku Ito Julie Muskett Parna Chattaraj Byung Yoon Choi Kyu Yup Lee Christopher K Zalewski Kelly A King Xiangming Li Philine Wangemann Thomas Shawker Carmen C Brewer Seth L Alper Andrew J Griffith | 2013 | World Journal of Otorhinolaryngology2013，3，2： | 2 |
| 2 | Microorganisms and heavy metal toxicity 显示文摘 | Gadd G M Griffiths A J | 1978 | Microb Ecol1978，4，： | 1 |
| 3 | Virtu-alness and Knowledge in Teams:Managing the Love Triangle of Organizations,Individuals,And Information Technology 显示文摘 | GRIFFITH T L SAWYER J E NEALE M A | 2003 | MIS Quarterly2003，，2： | 1 |
| 4 | Plant responses to water stress显示文摘 | Griffiths H Parry M A J | | 0，，07： | 1 |
| 5 | Final toxicity results of a radiation-dose escalation study in patients with non small- cell lung cancer(NSCLC): Predictors for radiation pneumonitis and fibrosis 显示文摘 | Kong F M Hayman J A Griffith K A | 2006 | Int J Radiat Oncol Biol Phys2006，65，4： | 1 |
| 6 | Pediatric modification of the Montreal classification for inflammatory bowel disease: Tbe Paris classification显示文摘 | Levine A Griffiths A Markowitz J | 2011 | Inflammatory Bowel Diseases2011，17，6： | 1 |
| 7 | An Empirical Examina- tion of a Technology Adoption Model for the Context of China 显示文摘 | Calantone R J Griffith D A Yalcinkaya G | 2006 | Journal of International Marketing2006，，： | 1 |
| 8 | Rail passenger crowding, stress, health and safety in Britain显示文摘 | Cox T Houdmont J Griffiths A | 2006 | Transportation Research Part A: Policy and Practice2006，40，3： | 1 |
| 9 | A potential application of aphid alarm phero mones显示文摘 | Griffiths D C Pickett J A | 1980 | Entomol Exp Appl1980，27，： | 1 |
| 10 | Preliminary comparison of landscape pattern-Normalized difference vegetation index (NDVI) relationships to central plains stream conditions 显示文摘 | Griffith J A Martinko E A Whistler J L | 2002 | Journal of Environmental Quality2002，31，： | 1 |
| 11 | The effect of solution heat-treatment time on the fatigue properties of an Al-Si-Mg casting alloy 显示文摘 | Davidson C J Griffiths J R Machin A S | 2002 | Fatigue and Fracture of Engineering Materials and Structures2002，25，2： | 1 |
| 12 | Mito-chondrial non-specific pores remain closed during cardiac ischaemia,but open upon reperfusion显示文摘 | GRIFFITHS E J HALESTRAP A P | 1995 | Biochem J1995，307，1： | 1 |
| 13 | Effect of rutin on increased capillary fragility in man显示文摘 | GRIFFITH J Q COUCH J F LINDAUER A | 1994 | Proceedings of the Society for Experimental Biology and Medicine1994，55，1： | 1 |
| 14 | Phage antibodies: filamentous phage displaying anti-body variable domains显示文摘 | Mccafferty J Griffiths A D Winter G | 1990 | Nature1990，348，： | 1 |
| 15 | An examination of exploration and exploitation capabilities : Implications for product innovation and market performance 显示文摘 | Yalcinkaya G Calantone R J Griffith D A | 2007 | Journal of International Marketing2007，15，4： | 1 |
| 16 | Vascular calcification does not predict anastomotic leak or conduit necrosis following oesophagectomy显示文摘BACKGROUND Anastomotic leaks(AL)and gastric conduit necrosis(CN)are serious complications following oesophagectomy.Some studies have suggested that vascular calcification may be associated with an increased AL rate,but this has not been validated in a United Kingdom population.AIM To investigate whether vascular calcification identified on the pre-operative computed tomography(CT)scan is predictive of AL or CN.METHODS Routine pre-operative CT scans of 414 patients who underwent oesophagectomy for malignancy with oesophagogastric anastomosis at the Queen Elizabeth Hospital Birmingham between 2006 and 2018 were retrospectively analysed.Calcification of the proximal aorta,distal aorta,coeliac trunk and branches of the coeliac trunk was scored by two reviewers.The relationship between these calcification scores and occurrence of AL and CN was then analysed.The Esophagectomy Complications Consensus Group definition of AL and CN was used.RESULTS Complication data were available in n=411 patients,of whom 16.7%developed either AL(15.8%)or CN(3.4%).Rates of AL were significantly higher in female patients,at 23.0%,compared to 13.9%in males(P=0.047).CN was significantly more common in females,(8.0%vs 2.2%,P=0.014),patients with diabetes(10.6%vs 2.5%,P=0.014),a history of smoking(10.3%vs 2.3%,P=0.008),and a higher American Society of Anaesthesiologists grade(P=0.024).Out of the 14 conduit necroses,only 4 occurred without a concomitant AL.No statistically significant association was found between calcification of any of the vessels studied and either of these outcomes.Multivariable analyses were then performed to identify whether a combination of the calcification scores could be identified that would be significantly predictive of any of the outcomes.However,the stepwise approach did not select any factors for inclusion in the final models.The analysis was repeated for composite outcomes of those patients with either AL or CN(n=69,16.7%)and for those with both AL and CN(n=10,2.4%)and again,no significant associations were detected.In the subset of patients that developed these outcomes,no significant associations were detected between calcification and the severity of the complication.CONCLUSION Calcification scoring was not significantly associated with Anastomotic Leak or CN in our study,therefore should not be used to identify patients who are high risk for these complications. | Benjamin J Jefferies Emily Evans James Bundred James Hodson John L Whiting Colm Forde Ewen A Griffiths | 2019 | World Journal of Gastrointestinal Surgery2019，11，7： | 1 |
| 17 | DNA sex identification in the three-spined stickleback显示文摘 | Griffiths R Orr K J Adam A | 2000 | Journal of Fish Biology2000，57，5： | 1 |
| 18 | Standardization/adaptation of international marketing strategy necessary conditions for the advancement of knowledge显示文摘 | Ryans J K Griffith D A | 2003 | International Marketing Reviews2003，20，： | 1 |
| 19 | Landscape structure analysis of kansas at three scales 显示文摘 | Griffith J A Martinko E A Price K P | 2000 | Landscape Urban Plan2000，52，1： | 1 |
| 20 | Loss of function of the gd- pP protein leads to joint beta-lactam/glycopeptide tol- erance in Staphylococcus aureus 显示文摘 | Griffiths J M (YNeill A J | 2012 | Antimicrobial A- gents and Chemotherapy2012，56，1： | 1 |
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