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41.
42.
Clinical spectrum of immunodeficiency, centromeric instability and facial dysmorphism (ICF syndrome)
Hagleitner MM Lankester A Maraschio P Hultén M Fryns JP Schuetz C Gimelli G Davies EG Gennery A Belohradsky BH de Groot R Gerritsen EJ Mattina T Howard PJ Fasth A Reisli I Furthner D Slatter MA Cant AJ Cazzola G van Dijken PJ van Deuren M de Greef JC van der Maarel SM Weemaes CM 《Journal of medical genetics》2008,45(2):93-99
43.
Maurice D. Walker Jack C. Vincent Lee Benson Corinne A. Stone Guy Harris Rachael E. Ambler Pat Watts Tom Slatter Martín Lpez-García Marco-Felipe King Catherine J. Noakes Richard J. Thomas 《Viruses》2022,14(5)
Surface to hand transfer of viruses represents a potential mechanism for human exposure. An experimental process for evaluating the touch transfer of aerosol-deposited material is described based on controlling surface, tribological, and soft matter components of the transfer process. A range of high-touch surfaces were evaluated. Under standardized touch parameters (15 N, 1 s), relative humidity (RH) of the atmosphere around the contact transfer event significantly influenced transfer of material to the finger-pad. At RH < 40%, transfer from all surfaces was <10%. Transfer efficiency increased markedly as RH increased, reaching a maximum of approximately 50%. The quantity of material transferred at specific RHs above 40% was also dependent on roughness of the surface material and the properties of the aerosol-deposited material. Smooth surfaces, such as melamine and stainless steel, generated higher transfer efficiencies compared to those with textured roughness, such as ABS pinseal and KYDEX® plastics. Pooled human saliva was transferred at a lower rate compared to artificial saliva, indicating the role of rheological properties. The artificial saliva data were modeled by non-linear regression and the impact of environmental humidity and temperature were evaluated within a Quantitative Microbial Risk Assessment model using SARS-CoV-2 as an example. This illustrated that the trade-off between transfer efficiency and virus survival may lead to the highest risks of fomite transmissions in indoor environments with higher humidity. 相似文献
44.
Slatter MA Gennery AR Cheetham TD Bhattacharya A Crooks BN Flood TJ Cant AJ Abinun M 《Bone marrow transplantation》2004,33(9):949-953
Thyroid dysfunction, a common long-term complication following bone marrow transplantation (BMT), is frequently associated with total body irradiation (TBI) given in the pre-BMT conditioning protocol. We report our preliminary observation of the prevalence of thyroid dysfunction in children transplanted for primary immunodeficiency (PID) who were given cytoreductive conditioning with busulphan and cyclophosphamide, but without TBI. We evaluated thyroid-stimulating hormone (TSH) and free thyroxine (fT4) in 83 survivors transplanted between 1987 and 2002. We found nine children (10.8%) with clinical and/or biochemical thyroid dysfunction at 4 months to 4.5 years post-BMT of which three had positive antithyroid microsomal antibodies. Two patients were classified as primary and seven as compensated hypothyroidism (hyperthyrotropinaemia). Four patients with clinical features of hypothyroidism received replacement thyroxine, while five of the seven patients with compensated hypothyroidism remain off thyroxine because we suspect this may be a transient phenomenon.Abnormalities of thyroid function including severe primary hypothyroidism may occur post-BMT in children receiving chemotherapy conditioning without TBI. Thyroid function should be assessed regularly in this group of patients. 相似文献
45.
D H Slatter A W Nelson S Young J M Stringer M W Fisher 《Experimental eye research》1979,28(4):369-379
Diameter and number of cells per unit length of vessel wall and endothelial cell frequency were determined in capillaries of trypsin-digested Foxhound retinas from different age groups. Capillary diameters increased and number of cells per unit length of capillary wall decreased with age and distance from the optic disc. Endothelial cell frequency was constant at approximately 79% of the total cells in capillary walls in all areas measured. Peripheral cystoid degeneration and peripheral annular and focal degeneration were found in aged dog retinas. Sclerosis of retinal arterioles was observed ophthalmoscopically, histologically, and in trypsin-digested retinas from aged dogs. The significance of this change in relation to the peripheral retinal degeneration is undetermined. It is proposed that thickening of basement membranes observed in peripheral capillaries of retinas causes chronic, low-level hypoxia leading to peripheral retinal degeneration in aged retinas. 相似文献
46.
47.
J G Slatter F S Abbott R Burton 《Xenobiotica; the fate of foreign compounds in biological systems》1990,20(10):999-1024
1. The in vivo biliary metabolites of (+/-)-3-dimethylamino-1,1-diphenylbutane hydrochloride (recipavrin) isolated from Wistar rats have been characterized by g.l.c.-mass spectrometry. 2. Non-conjugated metabolites include recipavrin (1), norrecipavrin (2), diphenylbutanone (3), diphenylbutanone oxime (4), diphenylbutanone phenol (12), diphenylbutanone oxime phenol (14), recipavrin phenol (19), diphenylbutanone O-methylcatechol (16) and diphenylbutanone oxime O-methylcatechol (18). 3. Following beta-glucuronidase hydrolysis and extraction from pH 10 solution, diphenylbutanone (3), diphenylbutanone oxime (4), an unidentified compound (6), primary amine (8), norrecipavrin (2), recipavrin (1), phenols (12, 14, 15), norrecipavrin phenol (13), O-methylcatechols (16, 18), diphenylbutanol O-methylcatechol (17), recipavrin O-methylcatechol (19) and a secondary formamide (5) were identified by g.l.c.-mass spectrometry. 4. Various extraction solvents were employed in sample workup. The formamide (5) was present regardless of solvent used, while the trace presence of secondary acetamide (7) may be associated with the use of ethyl acetate. 5. Metabolites isolated after beta-glucuronidase hydrolysis were characterized by g.l.c.-mass spectrometry of the underivatized form, and as the trimethylsilyl (TMS) derivatives, or following methylation with diazomethane or trimethylanilinium hydroxide (TMAH). 相似文献
48.
49.
The development and function of the vertebrate neuromuscular junction (NMJ) is continually being redefined. Previous studies have indicated that glutamate may play a role in the development or function of the NMJ by associating with presynaptic receptors. We have used larval zebrafish (Danio rerio) to investigate the presence of presynaptic ionotropic glutamate receptors (iGluRs) at the NMJ in vivo. In whole-mount zebrafish larvae, antibody staining directed to NR2A subunits colocalized with specific staining of motoneuron axon tracts. Whole cell voltage-clamp recordings of miniature endplate currents (mEPCs) from axial white muscle were performed during application of iGluR agonists and antagonists. Local perfusion of the NMJ with iGluR agonists resulted in significant increases in the frequency of spontaneous acetylcholine (ACh) release. These increases were blocked by the N-methyl-d-aspartate (NMDA) receptor antagonist d-(-)-2-amino-5-phosphonopentanoic acid (50 microM) and by the non-NMDA receptor antagonist 6-cyano-7-nitroquinoxalene-2,3-dione (50 microM). Further pharmacological investigation revealed no effect of the kainate receptor-specific antagonist (2S,4R)-4-methylglutamate (10 microM) on kainate-induced rises in the frequency of spontaneous ACh release. However, these were blocked with the AMPA receptor-specific antagonist 1-(4-aminophenyl)-4-methyl-7,8-methylenedioxy-5H-2,3-benzodiazepine (50 microM). Application of glutamate (1 mM) in the presence of the glutamate uptake inhibitor d-threo-beta-benzyloxyaspartate(200 microM) resulted in a significant increase in the frequency of mEPCs. These results suggest the presence of AMPA and NMDA receptors in association with motoneuron axons of larval zebrafish. 相似文献
50.
Reik Wolf; W.Brown Keith; E.Slatter Rosalind; Sartor Pat; Elliott Margaret; R.Maher Eamonn 《Human molecular genetics》1994,3(8):1297-1301
Beckwith-Wiedemann syndrome (BWS) Is a congenital overgrowthsyndrome with associated embryonal tumours. Most BWS cases aresporadic but familial cases occur In 15% of patients and inthese there is linkage to chromosome 11p15. In addition, a smallnumber of patients have cytogenetic abnormalities involvingchromosome 11 p15. Approximately 20% of sporadic BWS patientshave uniparental paternal dlsomy (UPD) of chromosome 11 p15.This finding together with the observation that penetrance infamilial cases depends on parental transmission, suggests thatthe gene(s) for BWS are imprinted. The recent demonstrationof blallellc expression of the otherwise maternally imprintedIGF2 gene In some BWS patients implicates excess IGF2 expressionin the disease. Here we have analysed the allele-specific methylationpatterns In the IGF2 gene and in the neighbouring and reciprocallyImprinted H19 gene in a group of 42 BWS patients, 10 of whichwere mosaic UPD cases. We found that allelic methylation ofboth genes was normal in all non-UPD cases, with the paternalallele being methylated, and was Increased In UPD cases in proportionwith the disomlc lineage. These findings suggest that sporadicBWS is not associated with a general alteration of methylationimprinting of the IGF2 and H19 genes. The methylation assayused in this study thus also offers a simple and reliable diagnostictest of UPD for 11p15.5. An unexpected finding was a distortionof the frequency of AvaU alleles at the IGF2 locus exclusivelyin UPD BWS cases (P < 0.001). This further Implicates theIGF2 gene in aspects of the BWS phenotype. 相似文献