Fanconi anemia (FA) is a rare genetic disease characterized by heterogeneous congenital abnormalities and increased risk for bone marrow failure and cancer. FA is caused by mutation of any one of 23 genes, the protein products of which function primarily in the maintenance of genome stability. An important role for the FA proteins in the repair of DNA interstrand crosslinks (ICLs) has been established .
View Article and Find Full Text PDFStudy Objective: Accurate diagnostic testing to identify severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection is critical. Although highly specific, SARS-CoV-2 reverse transcriptase-polymerase chain reaction (RT-PCR) has been shown in clinical practice to be affected by a noninsignificant proportion of false-negative results. This study seeks to explore whether the integration of lung ultrasonography with clinical evaluation is associated with increased sensitivity for the diagnosis of coronavirus disease 2019 pneumonia, and therefore may facilitate the identification of false-negative SARS-CoV-2 RT-PCR results.
View Article and Find Full Text PDFIn clinical experience patients who do not frequently check the cochlear implant (CI) maps have poor auditory performance and poor acceptance of map variations over time. The aim of the present study was to evaluate the effect of CI map optimization on both speech perception and subjective hearing in a group of CI patients with a long-standing map. 14 patients (6 females and 8 males; age range 16-77, mean age 45.
View Article and Find Full Text PDFPurpose: To evaluate if including nephrectomy in the standard surgical approach to stage II adrenocortical cancer (i.e., adrenalectomy) might modify oncologic outcome of patients.
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