Fetal presentation of congenital dyserythropoietic anemia type 1 with novel compound heterozygous CDAN1 mutations.

The congenital dyserythropoietic anemias are a heterogeneous group of disorders characterized by anemia and ineffective erythropoiesis. Congenital dyserythropoietic anemia type I (CDA1) can present in utero with hydrops fetalis, but more often it presents in childhood or adulthood with moderate macrocytic anemia, jaundice, and progressive iron-overload. CDA1 is inherited in an autosomal recessive manner, with biallelic pathogenic variants in CDAN1 or C15orf41. This case report documents a severe fetal presentation of CDA1 where we identified two novel compound heterozygous mutations in CDAN1 and describes the associated pathologic findings and levels of iron-regulatory proteins hepcidin, erythroferrone, and GDF15.

Cardiac metabolomics and autopsy in a patient with early diffuse systemic sclerosis presenting with dyspnea: a case report.

INTRODUCTION: Diffuse systemic sclerosis is associated with high mortality; however, the pathogenesis of cardiac death in these patients is not clear. CASE PRESENTATION: A 56-year-old Caucasian female patient presented with dyspnea and requested to donate her body to science in order to improve understanding of diffuse systemic sclerosis pathogenesis. She had extensive testing for dyspnea including pulmonary function tests, an echocardiogram, cardiac magnetic resonance imaging, and right heart catheterization to characterize her condition. Her case highlights the morbidity seen in this disease, including the presence of extensive skin thickening, digital ulcerations, and scleroderma renal crisis. CONCLUSION: In this case report, we present the finding of cardiac tissue metabolomics, which may indicate a problem with vasodilation as a contributor to cardiac death in diffuse systemic sclerosis. The use of autopsy and tissue metabolomics in rare disease may help clarify disease pathogenesis.

Use of leukoreduced blood does not reduce infection, organ failure, or mortality following trauma.

BACKGROUND: Leukoreduced (LR) blood has been demonstrated to reduce morbidity and mortality in high-risk surgical patients, but not in trauma patients. The objective of the present study was to determine the effect of LR blood on morbidity and mortality. We hypothesized that the use of LR blood does not improve outcome in trauma patients. METHODS: This study was a retrospective cohort analysis of trauma patients transfused at a level 1 Trauma Center from 2001 to 2004. Between 2002 and 2003, LR blood was transfused. Prior to that time and subsequent to it, non-leukoreduced (NLR) blood was transfused. This created two historical comparison groups. Data collected included patient demographics, units of blood transfused, intensive care unit (ICU) and hospital days, ventilator days, injury severity score (ISS), mortality, presence of acute respiratory distress syndrome (ARDS), and infectious complications. A multiple organ dysfunction syndrome (MODS) score was calculated. RESULTS: The distribution of patients was as follows: 284 patients received only NLR blood, 153 received only LR blood, and 58 received at least one unit of each. The mean ISS was similar (NLR: 26, LR: 24; P > 0.1). No differences were seen between groups in units transfused (6.2 vs. 5.5), number of ICU days (8.2 vs. 9.0), number of hospital days (16.9 vs. 18.6), number of ventilator days (6.1 vs. 5.7), incidence of ARDS (8.3% vs. 8.5%), MODS score (5.5 vs. 5.9), mortality rate (15.1% vs. 15.7%), or infection rate (36% vs. 30%) (P > 0.1). CONCLUSIONS: This study represents the largest series comparing trauma patients who received either LR or standard blood transfusions. The use of LR blood does not improve outcome in trauma patients.

The use of the Wittmann Patch facilitates a high rate of fascial closure in severely injured trauma patients and critically ill emergency surgery patients.

BACKGROUND: The open abdomen after severe intra-abdominal trauma and emergency surgery is a major operative challenge. It is associated with high morbidity and prolonged hospital stays. Several management strategies have been developed to assist with fascial closure but no single method has emerged as the best. The Wittmann Patch (Starsurgical, Burlington, WI) is a unique device which uses velcro to permit progressive abdominal closure without necessitating serial operations. The purpose of this study was to determine the fascial closure rate using the Wittmann patch. We hypothesized that use of the patch would result in a high closure rate. METHODS: Hospital billing codes were reviewed to identify those patients who underwent Wittmann patch placement. During the period from June 2002 to May of 2006, 29 patients were identified. These included 19 trauma patients and 10 other surgical patients. Other patients included vascular, bariatric, and emergency general surgery patients. The trauma registry and the patients' medical records were reviewed to determine injury severity, Acute Physiology and Chronic Health Evaluation II scores, fluid requirements, patch placement, management, and patient outcomes. RESULTS: Twenty-two (76%) of the 29 patients survived to discharge. The average Acute Physiology and Chronic Health Evaluation II score was 25 +/- 6 in all patients, 22.9 +/- 6 in survivors, and 31 +/- 3 in those who died (p = 0.004). Mean injury severity scale and abdominal abbreviated injury scale scores in trauma patients were 28 +/- 10 and 3 +/- 2, respectively. The mean volume of fluid given during the 24 hours before having an open abdomen or patch placement was 17.6 L +/- 10.1 L. Twenty-five (86.2%) of 29 patients had at least one abdominal operation before placement of the patch (mean 1.3 +/- 1.0). Eighteen (82%) of 22 patients who survived to discharge had successful facial closure. Three patients (14%) required mesh placement for abdominal closure. The remaining patient had his patch removed and ultimately underwent skin grafting and subsequent component separation closure. Successful fascial closure was achieved after 15.5 days +/- 10.2 days (range, 5-42 days). The skin was left open in half of the patients. There were four abdominal complications that were noted while the patch was in place. Three of four complications were related to the primary disease, and in the fourth complication the patch became infected and had to be removed. There were no eviscerations or enterocutaneous fistulas after primary fascial closure. The median length of stay was 28 days (Interquartile range, 14-39 days). CONCLUSIONS: Use of the Wittmann Patch can achieve a high rate of delayed fascial closure in severe trauma and critically ill emergency surgery patients with open abdomens. Most of the complications associated with use of the patch were wound infections after fascial closure and closure of the skin.