Background: Congenital hemolytic anemia constitutes a heterogeneous group of rare genetic disorders of red blood cells. Diagnosis is based on clinical data, family history and phenotypic testing, genetic analyses being usually performed as a late step. In this study, we explored 40 patients with congenital hemolytic anemia by whole exome sequencing: 20 patients with hereditary spherocytosis and 20 patients with unexplained hemolysis. Results: A probable genetic cause of disease was identified in 82.5% of the patients (33/40): 100% of those with suspected hereditary spherocytosis (20/20) and 65% of those with unexplained hemolysis (13/20). We found that several patients carried genetic variations in more than one gene (3/20 in the hereditary spherocytosis group, 6/13 fully elucidated patients in the unexplained hemolysis group), giving a more accurate picture of the genetic complexity of congenital hemolytic anemia. In addition, whole exome sequencing allowed us to identify genetic variants in non-congenital hemolytic anemia genes that explained part of the phenotype in 3 patients. Conclusion: The rapid development of next generation sequencing has rendered the genetic study of these diseases much easier and cheaper. Whole exome sequencing in congenital hemolytic anemia could provide a more precise and quicker diagnosis, improve patients' healthcare and probably has to be democratized notably for complex cases.

In anaplastic lymphoma kinase (ALK)‐positive anaplastic large cell lymphoma (ALK+ ALCL), positive minimal residual disease (MRD+) after the first chemotherapy course was proven of strong prognostic significance. We aimed to validate these results in 138 French patients. Eighty‐seven patients had a detectable minimal disseminated disease at diagnosis (MDD+). Early MRD assessment was performed in 33 of 87 patients and was positive in 18 and negative in 15 (MRD−). Three‐year progression‐free survival was significantly correlated with the MDD/MRD status: 81.1% in MDD−, 69.6% in MDD+/MRD−, and 15.2% in MDD+/MRD+ patients. In conclusion, we confirmed on an independent cohort that the MDD/MRD status has strong prognosis significance in ALK+ ALCL.

included were otherwise given the hospital's standard discharge summary. Follow-up compliance rates for keeping appointments were compared over the 1-year periods before and after the implementation.Of the 100 consults included, 57.0% were women with a mean age of 63.3 (standard deviation, 19.7) years. In line with previous studies, 2,3 our consultations had a significant impact on the inpatient management of skin conditions, changing the diagnosis and treatment plan in 69% and 83% of cases, respectively (Table I). Multivariate regression analysis showed that patients given the dermatologyspecific discharge form were more likely to follow-up compared with consult patients before this implementation (60.4% vs 21.2%; risk ratio, 2.25; 95% confidence interval, 1.18-4.28; P ¼ .004). Patients with an acute flare of a chronic condition (compared with an acute new condition) were also more likely to follow-up (risk ratio, 2.11; P ¼ .003), whereas there was no statistically significant difference in follow-up rates based on age or sex (Table II).Improved outpatient follow-up compliance rates with use of a dermatology-specific discharge form may be due to improved accuracy and specificity of dermatology information provided to patients upon discharge. One possible contributing factor is that the form is designed to be completed by the consulting dermatologist, as one study found that the accuracy rate of dermatology documentation in hospital discharge summaries completed by nondermatologists was only 54.5%. 4 The study is limited by its retrospective nature and generalizability given the implementation at a single community-based academic medical center. Although patients in the intervention group had reduced all-cause 30-day hospital readmission rates (6.9% vs 9.2%, P ¼ .03), it is beyond the scope of this study to correlate this with the higher rates of clinic follow-up. Future studies evaluating use of a dermatology-specific discharge form as a mechanism for reducing readmission rates of inflammatory skin conditions are warranted.

No abstract

Background: Congenital hemolytic anemia constitutes a heterogeneous group of rare genetic disorders of red blood cells. Diagnosis is based on clinical data, family history and phenotypic testing, genetic analyses being usually performed as a late step. In this study, we explored 40 patients with congenital hemolytic anemia by whole exome sequencing: 20 patients with hereditary spherocytosis and 20 patients with unexplained hemolysis. Results: A probable genetic cause of disease was identified in 82.5% of the patients (33/40): 100% of those with suspected hereditary spherocytosis (20/20) and 65% of those with unexplained hemolysis (13/20). We found that several patients carried genetic variations in more than one gene (3/20 in the hereditary spherocytosis group, 6/13 fully elucidated patients in the unexplained hemolysis group), giving a more accurate picture of the genetic complexity of congenital hemolytic anemia. In addition, whole exome sequencing allowed us to identify genetic variants in non-congenital hemolytic anemia genes that explained part of the phenotype in 3 patients. Conclusion: The rapid development of next generation sequencing has rendered the genetic study of these diseases much easier and cheaper. Whole exome sequencing in congenital hemolytic anemia could provide a more precise and quicker diagnosis, improve patients’ healthcare and probably has to be democratized notably for complex cases. .