Horseshoe kidneys are one of the most common congenital genitourinary malformations and can increase the complexity of common urologic procedures, especially nephrolithiasis. We present a patient who underwent robotic-assisted laparoscopic pyelolithotomy with intracorporeal pyeloscopy and stone basketing to treat a left lower pole stone burden located in a horseshoe kidney. This procedure provided benefits of expanded maneuverability, dexterity, and stability, which resulted in successful elimination of stone burden on post-operative imaging.
View Article and Find Full Text PDFRecurrence of pure seminoma in atypical lymph node sites, such as the pelvis are rare masses that show clinical signs late in disease progression. We report a case of a 73-year-old male that presented with urinary retention and pain in his left lower extremity with a history of right radical orchiectomy and adjuvant radiation for a stage 1 pure seminoma 30 years prior. CT showed a left pelvic mass concerning for malignancy.
View Article and Find Full Text PDFBackground: The phosphodiesterase 3A (PDE3A) gene encodes a PDE that regulates cardiac myocyte cyclic adenosine monophosphate (cAMP) levels and myocardial contractile function. PDE3 inhibitors (PDE3i) are used for short-term treatment of refractory heart failure (HF), but do not produce uniform long-term benefit.
Objectives: The authors tested the hypothesis that drug target genetic variation could explain clinical response heterogeneity to PDE3i in HF.
Renal medullary carcinoma (RMC) is a rare, aggressive primary renal malignancy that classically occurs in adolescent males with sickle cell trait and universally presents with metastatic disease at presentation. We report a case of medullary carcinoma in a young man with likely ophthalmic metastasis. We also review relevant literature available to date.
View Article and Find Full Text PDFIntroduction: We evaluated the relationship of patient satisfaction to arrival and wait times. We also sought to determine factors that patients considered important to the visit experience.
Methods: A total of 361 participants completed a survey in clinic to record wait times in various areas of the clinic and then rate satisfaction levels with these times and with the care received.
Introduction: When considering quality improvement of healthcare practices, patient flow, wait time, and satisfaction are important factors to monitor. Patient wait time can affect satisfaction with the care received, and it can be dependent on many different factors. The purpose of this study was to investigate the impact of patients' arrival times to his/her appointment (early vs.
View Article and Find Full Text PDFYY1 can activate or repress transcription of various genes. In cardiac myocytes in culture YY1 has been shown to regulate expression of several genes involved in myocyte pathology. YY1 can also acutely protect the heart against detrimental changes in gene expression.
View Article and Find Full Text PDFBackground: The purpose of the current study was to define the myocellular changes and adaptation of the β-adrenergic receptor (β-AR) system that occur in the systemic right ventricle (RV) of children with hypoplastic left heart syndrome (HLHS).
Methods: Explanted hearts from children with HLHS and non-failing controls were used for this study. HLHS patients were divided into 2 groups: "compensated" (C-HLHS), infants listed for primary transplant with normal RV function and absence of heart failure symptoms, and "decompensated" (D-HLHS), patients listed for transplant after failed surgical palliation with RV failure and/or refractory protein-losing enteropathy or plastic bronchitis.
Background: Pharmacogenetics involves complex interactions of gene products affecting pharmacodynamics and pharmacokinetics, but there is little information on the interaction of multiple genetic modifiers of drug response. Bucindolol is a β-blocker/sympatholytic agent whose efficacy is modulated by polymorphisms in the primary target (β(1) adrenergic receptor [AR] Arg389 Gly on cardiac myocytes) and a secondary target modifier (α(2C) AR Ins [wild-type (Wt)] 322-325 deletion [Del] on cardiac adrenergic neurons). The major allele homozygotes and minor allele carriers of each polymorphism are respectively associated with efficacy enhancement and loss, creating the possibility for genotype combination interactions that can be measured by clinical trial methodology.
View Article and Find Full Text PDFSeveral studies in humans or transgenic animals have reported that the 389 Arg or Gly polymorphic variation of the β1-adrenergic receptor (AR) is associated with differential responses to beta-blocker therapy and/or myocardial disease progression. Analysis of changes in gene expression is an important means of defining molecular differences associated with structural or functional phenotypic variations. To determine if structural and functional myocardial phenotypic differences between β1389 Arg vs.
View Article and Find Full Text PDFThe ability to analyze the biochemical properties of human cardiac tissue is critical both to an understanding of cardiac pathology and also to the development of novel pharmacotherapies. However current strategies for tissue procurement are not uniform and are potentially biased. In this study we contrasted several commonly used approaches for tissue sampling in order to determine their impact on contractile protein biochemistry.
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