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1.
Shira H. Fischer MD PhD Regina A. Shih PhD Tara L. McMullen PhD Maria O. Edelen PhD Sangeeta C. Ahluwalia PhD Emily K. Chen PhD Sarah E. Dalton MA Susan Paddock PhD Anthony Rodriguez PhD Debra Saliba MD MPH AGSF Stella Mandl BSW BSN RN Teresa Mota BSN RN Advisory Group on Medication Reconciliation in PAC 《Journal of the American Geriatrics Society》2022,70(4):1047-1056
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Pontevedra Paula Lopez-Suarez Carlos Rodriguez Veronica Pelaez Jesus Suarez Maria J. 《Clinical oral investigations》2022,26(6):4327-4335
Clinical Oral Investigations - To evaluate and to compare the clinical performance and survival rate of posterior monolithic and veneered zirconia fixed partial dentures (FPDs). Sixty 3-unit... 相似文献
3.
Dursun Furkan Elshabrawy Ahmed Wang Hanzhang Rodriguez Ronald Liss Michael A. Kaushik Dharam Gelfond Jonathan Mansour Ahmed M. 《International journal of clinical oncology / Japan Society of Clinical Oncology》2022,27(6):1068-1076
International Journal of Clinical Oncology - A recently reported phase III randomized trial comparing open and minimally invasive hysterectomy showed significantly higher rates of local recurrence... 相似文献
4.
Solveig Heide Marie-Line Jacquemont David Cheillan Michel Renouil Marilyn Tallot Charles E. Schwartz Juliette Miquel Marc Bintner Diana Rodriguez Françoise Darcel Julien Buratti Damien Haye Sandrine Passemard Domitille Gras Laurence Perrin Yline Capri Bénédicte Gérard Amélie Piton Cyril Mignot 《Genetics in medicine》2022,24(2):492-498
PurposeBiallelic loss-of-function variants in ST3GAL5 cause GM3 synthase deficiency (GM3SD) responsible for Amish infantile epilepsy syndrome. All Amish patients carry the homozygous p.(Arg288Ter) variant arising from a founder effect. To date only 10 patients from 4 non-Amish families have been reported. Thus, the phenotypical spectrum of GM3SD due to other variants and other genetic backgrounds is still poorly known.MethodsWe collected clinical and molecular data from 16 non-Amish patients with pathogenic ST3GAL5 variants resulting in GM3SD.ResultsWe identified 12 families originating from Reunion Island, Ivory Coast, Italy, and Algeria and carrying 6 ST3GAL5 variants, 5 of which were novel. Genealogical investigations and/or haplotype analyses showed that 3 of these variants were founder alleles. Glycosphingolipids quantification in patients’ plasma confirmed the pathogenicity of 4 novel variants. All patients (N = 16), aged 2 to 12 years, had severe to profound intellectual disability, 14 of 16 had a hyperkinetic movement disorder, 11 of 16 had epilepsy and 9 of 16 had microcephaly. Other main features were progressive skin pigmentation anomalies, optic atrophy or pale papillae, and hearing loss.ConclusionThe phenotype of non-Amish patients with GM3SD is similar to the Amish infantile epilepsy syndrome, which suggests that GM3SD is associated with a narrow and severe clinical spectrum. 相似文献
5.
Stephanie R. Wilt Mark Rodriguez Thanh N. H. Le Emily V. Baltodano Adrian Salas Stevan Pecic 《Chemical biology & drug design》2020,95(5):534-547
Endocannabinoids, anandamide (AEA) and 2‐arachidonoylglycerol (2‐AG), are endogenous lipids that activate cannabinoid receptors. Activation of these receptors produces anti‐inflammatory and analgesic effects. Fatty acid amide hydrolase (FAAH) is a membrane enzyme that hydrolases endocannabinoids; thus, inhibition of FAAH represents an attractive approach to develop new therapeutics for treating inflammation and pain. Previously, potent rat FAAH inhibitors containing 2‐naphthyl‐ and 4‐phenylthiazole scaffolds were identified, but up to the present time, very little structure–activity relationship studies have been performed on these moieties. We designed and synthesized several analogs containing these structural motifs and evaluated their inhibition potencies against human FAAH enzyme. In addition, we built and validated a homology model of human FAAH enzyme and performed docking experiments. We identified several inhibitors in the low nanomolar range and calculated their ADME predicted values. These FAAH inhibitors represent promising drug candidates for future preclinical in vivo studies. 相似文献
6.
Malinda Itchins Brandon Lau Amanda L. Hudson Helen Westman Cathy Yi Xia Sarah A. Hayes Viive M. Howell Michael Rodriguez Wendy A. Cooper Heng Wei Michael Buckland Bob T. Li Mark Li Vivek Rathi Stephen B. Fox Anthony J. Gill Stephen J. Clarke Michael J. Boyer Nick Pavlakis 《The oncologist》2020,25(8):641-649
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