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81.
Alwazzan Mohammed J. Ismael Mohammed A. Ahmed Asmaa N. 《Journal of digital imaging》2021,34(3):750-759
Journal of Digital Imaging - Digital images used in the field of ophthalmology are among the most important methods for automatic detection of certain eye diseases. These processes include image... 相似文献
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Anna Schossig Nicole I. Wolf Vincent Plagnol Katherine Fawcett Coro Paisán‐Ruiz Matthew Moore Dena Hernandez Sebastiano Musumeci Michael Tennison Raoul Hennekam Silvia Palmeri Alessandro Malandrini Salmo Raskin Dian Donnai Corina Hennig Andreas Tzschach Roel Hordijk Thomas Bast Katharina Wimmer Chien‐Ning Lo Simon Shorvon Heather Mefford Evan E. Eichler Roger Hall Ian Hayes John Hardy Andrew Singleton Johannes Zschocke Henry Houlden 《Human mutation》2013,34(2):296-300
Kohlschütter–Tönz syndrome (KTS) is a rare autosomal recessive disorder characterized by amelogenesis imperfecta, psychomotor delay or regression and seizures starting early in childhood. KTS was established as a distinct clinical entity after the first report by Kohlschütter in 1974, and to date, only a total of 20 pedigrees have been reported. The genetic etiology of KTS remained elusive until recently when mutations in ROGDI were independently identified in three unrelated families and in five likely related Druze families. Herein, we report a clinical and genetic study of 10 KTS families. By using a combination of whole exome sequencing, linkage analysis, and Sanger sequencing, we identify novel homozygous or compound heterozygous ROGDI mutations in five families, all presenting with a typical KTS phenotype. The other families, mostly presenting with additional atypical features, were negative for ROGDI mutations, suggesting genetic heterogeneity of atypical forms of the disease. 相似文献
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Knobel H Escobar I Polo R Ortega L Martín-Conde MT Casado JL Codina C Fernández J Galindo MJ Ibarra O Llinas M Miralles C Riera M Fumaz CR Segador A Segura F Chamorro L 《Enfermedades infecciosas y microbiología clínica》2005,23(4):221-231
Since the early days of antiretroviral therapy, adherence has emerged as the milestone of success; in fact, it is the most potent predictor of effectiveness. The main factors related to adherence include the complexity of the therapeutic regimen, adverse effects, psychological problems, alcoholism and active addiction to drugs, lack of social and family support and the patient's beliefs and attitudes about the treatment. Adherence monitoring should be part of the HIV patient's regular care, and should be done with feasible, easily applied methods adapted to the different clinical settings. The minimally acceptable measures should include use of a validated questionnaire, together with data from the Pharmacy Department's drug dispensation registry. All patients that begin HAART or undergo a change of treatment should participate in a treatment education program imparted by health professionals with knowledge and experience in the management of patients with HIV infection. The health team (doctors, pharmacists and nursing professionals) should offer maximum availability to solve the doubts and problems that may occur during treatment. When sub-optimal adherence is detected, intervention strategies based on psychological therapy, educational efforts and personal advice should be attempted, in order to adapt the treatment scheme to the patient's habits and provide solutions to the problem of non-compliance. In certain situations, co-morbid conditions will also require attention. Treatment adherence, being a multidimensional problem, needs a multidisciplinary team approach. The choice of therapy, only one aspect of the multidimensional problem of adherence, must be a careful and individualized decision; however, simpler regimens with regard to the number of pills and daily dose are desirable. 相似文献
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Ashley E. Levack Erika L. Cyphert Mathias P. Bostrom Christopher J. Hernandez Horst A. von Recum Alberto V. Carli 《Current rheumatology reports》2018,20(6):33
Purpose of Review
Infection in the setting of total joint arthroplasty, referred to as periprosthetic joint infection (PJI), is a devastating complication requiring prolonged and costly treatment. The unique environment around an artificial joint and ability of surrounding tissues to sequester bacteria collectively make prevention, diagnosis, and treatment of this condition challenging. In light of the unique pathogenesis of PJI, this review explores the limitations of contemporary treatments and discusses novel treatment options.Recent Findings
Recent advancements in local antibiotic delivery platforms for preventing and treating PJI include titanium nanotube arrays, synthetic polymers, resorbable hydrogels, and cyclodextrin-based drug delivery options. In particular, cyclodextrins have facilitated great advancements in other clinical disorders and have demonstrated early promise as a future option in the arena of PJI.Summary
Novel treatment modalities for PJI optimize the implant surfaces to prevent bacterial biofilm formation or provide prolonged intra-articular antibiotic dosing to eradicate bacteria.90.
Tyler F. Beck Philippe M. Campeau Shalini N. Jhangiani Tomasz Gambin Alexander H. Li Reem Abo‐Zahrah Valerie K. Jordan Andres Hernandez‐Garcia Wojciech K. Wiszniewski Donna Muzny Richard A. Gibbs Eric Boerwinkle James R. Lupski Brendan Lee Willie Reardon Daryl A. Scott 《American journal of medical genetics. Part A》2015,167(4):831-836