Efficacy and economics of targeted panel versus whole-exome sequencing in 878 patients with suspected primary immunodeficiency.

Background: Next-generation sequencing has become a first-line tool for the diagnosis of primary immunodeficiency. However, patient access remains limited because of restricted insurance coverage and a lack of guidelines addressing the use of targeted panels versus whole-exome sequencing (WES).

Objectives: We sought to compare targeted next-generation sequencing with WES in a global population of patients with primary immunodeficiency.

"I'm Just a Patient": Fear and Uncertainty as Drivers of Emergency Department Use in Patients With Chronic Disease.

Study Objective: Despite focus during the past decade about the need to design a more patient-centered US health care system, patients have been minimally engaged to define what they want from it. Our objective is to engage patients to identify individual-defined priority outcomes on discharge from the emergency department (ED) and individually tailored interventions to help achieve their outcomes.

Methods: We used qualitative semistructured interviews with patients with diabetes mellitus or cardiovascular disease who were being discharged from 2 EDs.

Hemodynamic and hormonal changes during pneumoperitoneum and trendelenburg positioning for operative gynecologic laparoscopy surgery.

Objective: The number and types of surgical procedures being preformed using laparoscopic technique is increasing due to technological advances. Recent studies suggest the carbon dioxide pneumoperitoneum and patient positioning causes hemodynamic alterations, respiratory acidosis, and a release of stress hormones. However, to date, no studies have investigated the physiological effect of laparoscopic procedures lasting more than 60 minutes on the stress response and the effect of Trendelenburg positioning.

Use of ureteral stents in the management of major renal trauma with urinary extravasation: is there a role?

Five patients with major (Grade IV) renal trauma required ureteral stent placement to facilitate urinary drainage. Three of these patients had stents placed for recurrent gross hematuria with flank pain. All three had obstructing blood clots present at the time of stent placement.

Pancreatic trauma: a ten-year multi-institutional experience.

Our objective was to determine the incidence, management, and outcome of traumatic pancreatic injury. A retrospective review was performed of all patients with pancreatic injury admitted to two Level I trauma hospitals over a 10-year period. Comparisons were made with Chi square or Fisher's exact tests.

Protease inhibitors and urolithiasis.

Purpose: We discuss the specific urological abnormalities associated with protease inhibitor therapy.

Materials And Methods: We report on a human immunodeficiency virus positive patient who was on protease inhibitor therapy and presented with renal colic.

Results: The stone passed spontaneously.

Postoperative nausea and vomiting: a comparison of propofol infusion versus isoflurane inhalational technique for laparoscopic patients.

Gynecologic laparoscopic procedures frequently precipitate postoperative nausea and/or vomiting. The use of specific anesthetic agents and premedicants may decrease the incidence. This study determined the occurrence of postoperative nausea/retching/vomiting (N/R/V) when propofol was used for anesthesia maintenance compared with isoflurane when both groups of patients received metoclopramide and ranitidine preoperatively and were induced with propofol.