Genetic newborn screening and digital technologies: A project protocol based on a dual approach to shorten the rare diseases diagnostic path in Europe.

Since 72% of rare diseases are genetic in origin and mostly paediatrics, genetic newborn screening represents a diagnostic "window of opportunity". Therefore, many gNBS initiatives started in different European countries. Screen4Care is a research project, which resulted of a joint effort between the European Union Commission and the European Federation of Pharmaceutical Industries and Associations. It focuses on genetic newborn screening and artificial intelligence-based tools which will be applied to a large European population of about 25.000 infants. The neonatal screening strategy will be based on targeted sequencing, while whole genome sequencing will be offered to all enrolled infants who may show early symptoms but have resulted negative at the targeted sequencing-based newborn screening. We will leverage artificial intelligence-based algorithms to identify patients using Electronic Health Records (EHR) and to build a repository "symptom checkers" for patients and healthcare providers. S4C will design an equitable, ethical, and sustainable framework for genetic newborn screening and new digital tools, corroborated by a large workout where legal, ethical, and social complexities will be addressed with the intent of making the framework highly and flexibly translatable into the diverse European health systems.

Management of acute cholecystitis in critically ill patients: contemporary role for cholecystostomy and subsequent cholecystectomy.

The diagnosis of acute cholecystitis in critically ill patients carries a high mortality rate. Although decompression and drainage of the gallbladder through a cholecystostomy tube may be used as a temporary treatment of acute cholecystitis in this population, there is still some debate about the management of the tube and the subsequent need for a cholecystectomy. This series evaluates the clinical course and outcomes of critically ill patients who underwent the insertion of cholecystostomy tubes for the initial treatment of acute cholecystitis. This is a retrospective review of critically ill patients admitted to the hospital intensive care unit who were diagnosed with acute cholecystitis and underwent a cholecystostomy tube as a temporary treatment for the disease. Patients were identified through the Greenville Hospital System electronic medical records coding database. Medical records were reviewed for demographic data, diagnoses, imaging, complications, and outcomes. From January 2002 through June 2008, 50 patients were identified for the study. The mean age was 72 +/- 11 years, and the majority (66%) were men. The following comorbidities were found: severe cardiovascular disease (40 patients), respiratory failure (30 patients), and multisystem organ dysfunction (30 patients). The mean intensive care unit length of stay (LOS) was 16 +/- 9 days, and the mean hospital LOS was 28 +/- 27 days. At 30 days, the morbidity associated with the cholecystostomy tube itself was 4 per cent, but overall in-hospital morbidity and mortality rates were 62 and 50 per cent, respectively. Of the 25 patients who survived longer than 30 days, 12 retained their cholecystostomy tubes until they underwent cholecystectomy (four open, seven laparoscopic). All of the remaining 13 patients had their cholecystostomy tubes removed, and eight developed recurrent cholecystitis. Of these patients with recurrent of cholecystitis, five had cholecystectomy or repeat cholecystostomy, but the remaining three patients died. Although this is a small patient population, these data suggest that, in critically ill patients, cholecystostomy tubes should remain in place until the patient is deemed medically suitable to undergo cholecystectomy. Removal of the cholecystostomy tube without subsequent cholecystectomy is associated with a high incidence of recurrent cholecystitis and devastating consequences.

Analysis of Centers for Medicaid and Medicare Services 'never events' in elderly patients undergoing bowel operations.

Since October 2008, the Centers for Medicare and Medicaid Services (CMS) has denied reimbursement for 10 hospital-acquired "never events," which were deemed reasonably preventable. This study compares the frequency and costs of CMS "never events" in patients undergoing bowel operations between ages 65 to 79 years and 80 years or older. Patients aged 65 years or older who underwent small or large bowel operations, from January 2008 to March 2009, were identified by a retrospective review of inpatient charts and the Greenville Hospital System electronic coding database. Outcomes included hospital length of stay (LOS), discharge status, incidence of "never events," and median hospital costs determined by the EPSi cost system. Of 151 patients identified, 118 were age 65 to 79 years old and 33 were 80 years or older. A total of 90 CMS "never events" was found in 64 patients. The most common conditions were surgical site, catheter-related urinary tract, and vascular catheter infections. Patients 80 years of age or older had a statistically higher incidence when compared with the age 65- to 79-year-old age group of catheter-related urinary tract infections (UTIs) (36 vs 12%), vascular catheter infections (15 vs 4%), hospital LOS (11 vs 6 days) as well as a greater median hospital cost ($28,300 vs $15,300). It is unclear whether these "never events" are the reason for higher costs or an indicator of more severely ill patients. Nevertheless, it is clear that the additional financial burden of caring for these high-risk, high-cost, elderly patients is clearly borne by the hospital.

Analysis of Centers for Medicaid and Medicare Services 'Never Events' in Elderly Patients Undergoing Bowel Operations, USA.

Since October 2008, the Centers for Medicare and Medicaid Services (CMS) has denied reimbursement for 10 hospital-acquired "never events," which were deemed reasonably preventable. This study compares the frequency and costs of CMS "never events" in patients undergoing bowel operations between ages 65 to 79 years and 80 years or older. Patients aged 65 years or older who underwent small or large bowel operations, from January 2008 to March 2009, were identified by a retrospective review of inpatient charts and the Greenville Hospital System electronic coding database. Outcomes included hospital length of stay (LOS), discharge status, incidence of "never events," and median hospital costs determined by the EPSi cost system. Of 151 patients identified, 118 were age 65 to 79 years old and 33 were 80 years or older. A total of 90 CMS "never events" was found in 64 patients. The most common conditions were surgical site, catheter-related urinary tract, and vascular catheter infections. Patients 80 years of age or older had a statistically higher incidence when compared with the age 65- to 79-year-old age group of catheter-related urinary tract infections (UTIs) (36 vs 12%), vascular catheter infections (15 vs 4%), hospital LOS (11 vs 6 days) as well as a greater median hospital cost ($28,300 vs $15,300). It is unclear whether these "never events" are the reason for higher costs or an indicator of more severely ill patients. Nevertheless, it is clear that the additional financial burden of caring for these high-risk, high-cost, elderly patients is clearly borne by the hospital.

Endoscopic retrograde cholangiopancreatography in general surgery: how much are we outsourcing?

Although surgeons can safely perform endoscopic retrograde cholangiopancreatography (ERCP), it has fallen within the domain of gastroenterologists. We sought to quantify the role of ERCP in a tertiary-care surgery department. The hospital discharge database was queried for all ERCPs performed from January 2007 to December 2007. Gastroenterologists performed all ERCPs in our query. Surgical patients were admitted and/or under the care of a surgeon; whereas nonsurgical patients had no surgeon involvement. Patient characteristics and diagnoses were compared between groups. ERCP procedural details were recorded. Surgical patients comprised 48 per cent (n = 151) of the total 311 ERCPs performed. The mean time interval from a surgeon's request for ERCP to actual procedure was 2.43 days (standard deviation [SD] 2.55; range, 0-13 days). The surgical group had significantly different diagnoses and underwent less diagnostic (22% vs 56%) and more therapeutic ERCPs (72% vs 38%). Surgical patients were more likely inpatients (82.1% vs 16.8%) with a longer length of stay (6.7 vs 3.9 days; P = 0.0029) compared with nonsurgical patients. We found surgical patients requiring ERCP differ significantly from nonsurgical patients, with a significant number of technical interventions being outsourced. Given the benefits of a surgical ERCP program and the potential volume of these unique patients, this procedure should be performed by appropriately trained surgeons.

Elective surgery in patients with end stage renal disease: what's the risk?

Little research has been performed in regards to the morbidity and outcomes associated with elective general surgery performed on patients with end stage renal disease (ESRD). With minimal data about the severity of disease in these patients, we sought to quantify the differences in the ESRD patient undergoing elective surgical procedures compared with matched controls. A review of all ESRD patients undergoing elective surgical procedures at a University Medical Center between 2001 and 2005 was performed. Outcomes included length of hospital stay, 1 year morbidity, and mortality. These patients were then compared with a control group with normal renal function matched 2:1. Fifty-two consecutive ESRD patients undergoing elective general surgery procedures were compared with 104 matched controls. The ESRD group experienced more complications (25 vs 16, P = 0.05) and had a larger number of overall complications compared with the controls (33 vs 19, P < 0.05). Length of stay was significantly longer in the ESRD group as well (8 vs 2.65 days, P < 0.0001). Incidence of death (4%) in the ESRD group was increased as well. Patients with ESRD require longer hospital stays and have an increased overall incidence and frequency of complications than patients with normal renal function undergoing elective general surgery procedures. The significantly increased morbidity should be considered when evaluating expected outcomes.

Emergent and elective colon surgery in the extreme elderly: do the results warrant the operation?

With the elderly population rising continuously, surgeons are increasingly confronted by the dilemma of operative management in these patients, which frequently encompasses end-of-life issues. Increasing age and emergent surgery are known risk factors for poor outcomes in colon surgery. The purpose of this study is to delineate differences in outcomes between emergent and elective colon surgery and identify risk factors that can guide the surgeon in caring for the extreme elderly (age 80 years or older). From 2001 to 2006, a retrospective review of the resident database at Greenville Hospital System identified 104 extreme elderly patients who underwent colon surgery (65 elective, 39 emergent). Comparing elective and emergent operations, results showed substantial differences in morbidity (20% vs 51.2%, P < 0.001), 30-day mortality rate (7.7% vs 30.7%, P < 0.005), and length of stay (13.6 days vs 21.6 days, P < 0.004). Percentage of patients discharged to home was significantly less in the emergent group (13% vs 59%, P < 0.001). Evaluation of the emergent surgery group revealed male gender, history of smoking, and ischemic changes on pathologic examination were statistically significant risk factors for failure of surgery. As a result of the high-risk nature of emergent colon operations in the extreme elderly, it is important that surgeons carefully assess the benefits in relation to the risks and functional outcomes of surgery when planning patient care and providing informed consent.

Abdominal CT scanning in reproductive-age women with right lower quadrant abdominal pain: does its use reduce negative appendectomy rates and healthcare costs?

Although acute appendicitis is the most frequent cause of the acute abdomen in the United States, its accurate diagnosis in reproductive-age women remains difficult. Problems in making the diagnosis are evidenced by negative appendectomy rates in this group of 20 per cent to 45 per cent. Abdominal CT scanning has been used in diagnosing acute appendicitis, but its reliability and usefulness remains controversial. There is concern that the use of CT scanning to make this diagnosis leads to increased and unwarranted healthcare charges and costs. The purpose of our study is to determine if abdominal CT scanning is an effective test in making the diagnosis of acute appendicitis in reproductive-age women (age, 16-49 years) with right lower quadrant abdominal pain and to determine if its use is cost-effective. From January 2003 to December 2006, 439 patients were identified from our academic surgical database and confirmed by chart review as undergoing an appendectomy with a pre- or postoperative diagnosis of acute appendicitis. Data, including age, presence and results of preoperative abdominal CT scans, operative findings, and pathology reports were reviewed. Comparison of patients receiving a preoperative CT scan with those who did not was performed using chi-squared analysis. In the subgroup of reproductive-age women, there was a significant difference in negative appendectomy rates of 17 per cent in the group that received abdominal CT scans versus 42 per cent in the group that did not (P < 0.038). After accounting for the patient and insurance company costs, abdominal CT scan savings averaged $1412 per patient. Abdominal CT scanning is a reliable, useful, and cost-effective test for evaluating right lower quadrant abdominal pain and making the diagnosis of acute appendicitis in reproductive-age women.

The general surgery model: a more appealing and sustainable alternative for the care of trauma patients.

The contemporary model of trauma care where dedicated trauma/critical care surgeons exclusively manage trauma patients has become progressively unsustainable. Little objective data, however, is available documenting that a better model exists. From September 2002 through August 2003, the trauma model at a 735-bed level I trauma teaching hospital was changed from the contemporary model to a new one where selected general surgeons with Advanced Trauma Life Support (ATLS) certification covered in-house trauma and emergency surgery call on a rotational basis. As well, each pursued elective practices, admitting all inpatients (trauma, emergent, elective) to a single teaching service (formerly the trauma service). Critical care was managed by a separate group of intensivists. The purpose of this study was to objectively compare the two models. Quantitative, financial, and qualitative data were derived from August 2001 to January 2002 (trauma/critical care model) and compared to August 2003 to January 2004 (general surgery model). During the two periods (trauma/critical care vs general surgery), the mean Revised Trauma Score (7.1 vs 7.2; P = 0.029), the mean Injury Severity Score (ISS) (10.9 vs 10.8; P = 0.84), and the percentage of penetrating trauma (12.5% vs 13.2%; P = 0.79) were similar. Differences (trauma/critical care vs general surgery, % increase/P value) included average daily census (24 vs 54, 225%), cases/attending (262 vs 543, 207%), cases/resident (54 vs 262, 485%), charges/attending (353,811 dollars vs 471,725 dollars, 133%), collections/attending (106,143 dollars vs 165,103 dollars, 156%), number of trauma patients (643 vs 748, 116%), trauma mortality (7.3% vs 4.0%; P = 0.007), trauma mortality with ISS >15 (21.7% vs 12.0%; P = 0.035), trauma complications (33.1% vs 17%; P < 0.001), and ICU morbidity (66.8% vs 43.9%; P < .001). The new general surgery model produced superior financial results and better quantitative surgical experience while exceeding trauma and ICU quality outcomes compared to the former trauma/critical care model. These data objectively support a model such as ours--one that is financially sustainable and more professionally attractive.