Quality of life, self-reported outcomes and impact of education among people with moderate and severe hemophilia A: An integrated perspective from a Latin American country.

Collecting and interpreting self-reported outcomes among people with hemophilia A supports the understanding of the burden of the disease and its treatment to improve holistic care. However, in Colombia, this information is limited. Therefore, this study aimed to describe the knowledge, perception and burden of hemophilia A from the patients' perspective. A cross-sectional study was conducted in the context of a hemophilia educational bootcamp held from November 29th to December 1st, 2019, in Medellin, Colombia. The bootcamp was organized by a hemophilia patient association responsible for contacting and inviting patients with hemophilia A (PwHA). Information on patients' health beliefs, treatment experiences, and health-related quality of life (HRQoL) was obtained through focus groups, individual interviews and the Patient Reported Outcomes, Burdens and Experiences (PROBE) questionnaire. A total of 25 moderate or severe PwHA were enrolled in this study and completed the PROBE questionnaire. Acute pain was the most frequently reported symptom, with 88% of the patients reporting the use of pain medication. Difficulty with activities of daily living was reported by 48%. Furthermore, 52% reported having more than 2 spontaneous bleeding events in the last year. Treatment was administered at home for 72% of patients, with regular prophylaxis as the most common treatment regimen. In terms of overall HRQoL, the median EQ-5D VAS score was 80 (IQR: 50-100). PwHA in Colombia still suffer from disease complications related to bleeding events, pain and disability that affect their HRQoL, which highlights the need to develop patient-centered initiatives to improve the wellness of this population.

An unusual umbilical venous connection to a left posterior intercostal vein.

A foetal echocardiogram, in a 27-week foetus referred for cardiomegaly, demonstrated dextrocardia, absence of the ductus venosus, and an unrestricted unusual umbilical venous drainage to a left posterior intercostal vein, which continued to left hemiazygos vein and drained into the coronary sinus. Progressive cardiomegaly led to early delivery. To the best of our knowledge, no case with similar umbilical venous drainage has been previously reported.

Author Correction: Combined quantification of procalcitonin and HLA-DR improves sepsis detection in surgical patients.

A correction to this article has been published and is linked from the HTML and PDF versions of this paper. The error has not been fixed in the paper.

Quantification of Immune Dysregulation by Next-generation Polymerase Chain Reaction to Improve Sepsis Diagnosis in Surgical Patients.

OBJECTIVES: To quantify immunological dysfunction in surgical patients with presence/absence of sepsis using a droplet digital polymerase chain reaction (ddPCR) transcriptomic analysis. The study also aims to evaluate this approach for improving identification of sepsis in these patients. BACKGROUND: Immune dysregulation is a central event in sepsis. Quantification of the expression of immunological genes participating in the pathogenesis of sepsis could represent a new avenue to improve its diagnosis. METHODS: Expression of 6 neutrophil protease genes (MMP8, OLFM4, LCN2/NGAL, LTF, PRTN3, MPO) and also of 5 genes involved in the immunological synapse (HLA-DRA, CD40LG, CD3E, CD28, ICOS) was quantified in blood from 101 surgical patients with sepsis, 53 uninfected surgical patients, and 16 blood donors by using ddPCR. Areas under receiver operating characteristic curves (AUROC) and multivariate regression analysis were employed to test individual genes and gene ratios to identify sepsis, in comparison with procalcitonin. RESULTS: Sepsis-induced overexpression of neutrophil protease genes and depressed expression of immunological synapse genes. MMP8/HLA-DRA, LCN2/HLA-DRA outperformed procalcitonin in differentiating between patients with sepsis and surgical controls in the AUROC analysis: LCN2/HLA-DRA: 0.90 (0.85-0.96), MMP8/HLA-DRA: 0.89 (0.84-0.95), procalcitonin: 0.80 (0.73-0.88) (AUROC, confidence interval 95%), and also in the multivariate analysis: LCN2/HLA-DRA: 8.57 (2.25-32.62); MMP8/HLA-DRA: 8.03 (2.10-30.76), procalcitonin: 4.20 (1.15-15.43) [odds ratio (confidence interval 95%)]. Gene expression levels of HLA-DRA were an independent marker of hospital mortality. CONCLUSIONS: Quantifying the transcriptomic ratios MMP8/HLA-DRA, LCN2/HLA-DRA by ddPCR is a promising approach to improve sepsis diagnosis in surgical patients.

Combined quantification of procalcitonin and HLA-DR improves sepsis detection in surgical patients.

Early recognition of sepsis is a key factor to improve survival to this disease in surgical patients, since it allows prompt control of the infectious source. Combining pro-inflammatory and immunosupression biomarkers could represent a good strategy to improve sepsis detection. Here we evaluated the combination of procalcitonin (PCT) with gene expression levels of HLA-DRA to detect sepsis in a cohort of 154 surgical patients (101 with sepsis and 53 with no infection). HLA-DRA expression was quantified using droplet digital PCR, a next-generation PCR technology. Area under the receiver operating curve analysis (AUROC) showed that the PCT/HLA-DRA ratio outperformed PCT to detect sepsis (AUROC [CI95%], p): PCT: 0.80 [0.73-0.88], <0.001; PCT/HLA-DRA: 0.85 [0.78-0.91], <0.001. In the multivariate analysis, the ratio showed a superior ability to predict sepsis compared to that of PCT (OR [CI 95%], p): PCT/HLA-DRA: 7.66 [1.82-32.29], 0.006; PCT: 4.21 [1.15-15.43] 0.030. Multivariate analysis was confirmed using a new surgical cohort with 74 sepsis patients and 21 controls: PCT/HLA-DRA: 34.86 [1.22-995.08], 0.038; PCT: 5.52 [0.40-75.78], 0.201. In conclusion, the combination of PCT with HLA-DRA is a promising strategy for improving sepsis detection in surgical patients.

Reversibility of pamidronate-associated glomerulosclerosis.

Bisphosphonates such as pamidronate are widely used in the treatment of patients with lytic bony lesions secondary to breast cancer or multiple myeloma, yet they have been associated with deterioration of renal function and histopathological changes in the kidney. There have been recent reports associating the use of pamidronate with the development of the collapsing variant of focal segmental glomerulosclerosis (CFSGS), a rapidly progressive variant of focal segmental glomerulosclerosis that leads to end-stage renal disease. We describe five patients who developed worsening renal function, proteinuria, and nephrotic syndrome while taking pamidronate; three of them had biopsy-proven CFSGS. Pamidronate was discontinued, and a longitudinal follow-up was performed for 10 to 23 months. One patient was able to discontinue hemodialysis, and all patients experienced improvement in renal function and a decrease in proteinuria. In some patients who develop pamidronate-associated CFSGS, renal damage appears to be reversible if the syndrome is recognized early and pamidronate is stopped.

Performance evaluation of the application of body fluids on the Sysmex XE-2100 series automated hematology analyzer.

Body fluid analysis on the Sysmex XE-2100 series automated hematology analyzer was evaluated at 4 hospitals (Baylor University Medical Center, Dallas, TX; St. John's Mercy, St. Louis, MO; Carle Clinic, Urbana, IL; and ACL Laboratories, West Allis, WI, USA). The total nucleated cell and red blood cell (RBC) counts of 493 samples were obtained with the Sysmex XE-2100 automated hematology analyzer and compared with results obtained by manual chamber counting. Seventy-eight samples were not suitable for evaluation because of the presence of clots, crystals, error messages related to white blood cell (WBC) and RBC parameters, and so on. Pearson correlation coefficients for the WBC parameter were 0.99 for cerebrospinal fluid, 0.95 for serous fluid, 0.99 for synovial fluid, and 0.99 for samples of combined body fluids. Ninety-six samples were used to compare RBC counting methods because these samples had RBC counts greater than 0.01 10 6/mL. The Pearson correlation coefficients for the RBC parameter were 0.96 for cerebrospinal fluid, 0.97 for serous fluid, 0.97 for synovial fluid, and 0.97 for samples of combined body fluids. Carryover, precision, and linearity studies also performed for WBC and RBC counts yielded very good results.

Fatal mesenteric fibromuscular dysplasia: a case report and review of the literature.

Fibromuscular dysplasia is a rare nonatherosclerotic, noninflammatory angiopathy of uncertain etiology and high morbidity. Because of its propensity to affect medium-sized vessels in a variety of locations, presenting symptoms may vary substantially, resulting in a delayed or missed diagnosis. We describe a 57-year-old woman who, on multiple occasions, presented with progressive gastrointestinal symptoms and eventually underwent surgical revascularization for celiac and superior mesenteric artery stenosis of uncertain etiology. Her postoperative course was complicated by bowel ischemia, multiple organ failure, and death. Autopsy findings proved useful in determining the underlying disease process and cause of death. This case report and a review of the literature illustrate the high morbidity and mortality that are caused by mesenteric fibromuscular dysplasia, the challenge in establishing a correct diagnosis, and the importance of early detection and treatment.