Successful Treatment of Mild Pediatric Kasabach-Merritt Phenomenon with Propranolol Monotherapy

Kasabach-Merritt phenomenon (KMP) is relatively rare in childhood and adolescents with high mortality rate because of its hemorrhagic complications and unresponsiveness to treatments such as corticosteroids, vincristine, intravascular embolization, and/or surgery. Propranolol, a β-adrenergic receptor blocker, has a promising efficacy against vascular tumors such as infantile hemangiomas. But limited and variable data has been reported regarding the role of propranolol in treatment of KMP. We herein reported the successful treatment of mild pediatric KMP with propranolol monotherapy in a case of a five-week-old child with kaposiform hemangioendothelioma with successful treatment of both clinical and hematologic responses. After eight months of follow-up, patient still had stable cutaneous lesion while receiving propranolol monotherapy. Regular hematologic monitoring was done in order to detect any late relapse of the disease. Six months after discontinuation of propranolol, patient has still remained free of hematologic relapse, and primary cutaneous lesion has become a pale pink, 1 cm sized skin lesion

DeepThal: A Deep Learning-Based Framework for the Large-Scale Prediction of the α+-Thalassemia Trait Using Red Blood Cell Parameters

Objectives: To develop a machine learning (ML)-based framework using red blood cell (RBC) parameters for the prediction of the α+-thalassemia trait (α+-thal trait) and to compare the diagnostic performance with a conventional method using a single RBC parameter or a combination of RBC parameters. Methods: A retrospective study was conducted on possible couples at risk for fetus with hemoglobin H (Hb H disease). Subjects with molecularly confirmed normal status (not thalassemia), α+-thal trait, and two-allele α-thalassemia mutation were included. Clinical parameters (age and gender) and RBC parameters (Hb, Hct, MCV, MCH, MCHC, RDW, and RBC count) obtained from their antenatal thalassemia screen were retrieved and analyzed using a machine learning (ML)-based framework and a conventional method. The performance of α+-thal trait prediction was evaluated. Results: In total, 594 cases (female/male: 330/264, mean age: 29.7 ± 6.6 years) were included in the analysis. There were 229 normal controls, 160 cases with the α+-thalassemia trait, and 205 cases in the two-allele α-thalassemia mutation category, respectively. The ML-derived model improved the diagnostic performance, giving a sensitivity of 80% and specificity of 81%. The experimental results indicated that DeepThal achieved a better performance compared with other ML-based methods in terms of the independent test dataset, with an accuracy of 80.77%, sensitivity of 70.59%, and the Matthews correlation coefficient (MCC) of 0.608. Of all the red blood cell parameters, MCH < 28.95 pg as a single parameter had the highest performance in predicting the α+-thal trait with the AUC of 0.857 and 95% CI of 0.816–0.899. The combination model derived from the binary logistic regression analysis exhibited improved performance with the AUC of 0.868 and 95% CI of 0.830–0.906, giving a sensitivity of 80.1% and specificity of 75.1%. Conclusions: The performance of DeepThal in terms of the independent test dataset is sufficient to demonstrate that DeepThal is capable of accurately predicting the α+-thal trait. It is anticipated that DeepThal will be a useful tool for the scientific community in the large-scale prediction of the α+-thal trait

Flow Cytometric Test with Eosin-5-Maleimide for a Diagnosis of Hereditary Spherocytosis in a Newborn

A term male newborn born to a mother who had hereditary spherocytosis presented with neonatal jaundice at 20 hours of life. Complete blood count showed hemoglobin 17.1 g/dL, MCV 104.2 fL, MCH 32.9 pg, and MCHC 31.6 g/dL. The patient had indirect hyperbilirubinemia requiring phototherapy. The maximum total bilirubin level was 12.15 mg/dL at 20 hours of life. Peripheral blood smear revealed spherocytes, crenated red cells, and polychromasia. A flow cytometric test with eosin-5-maleimide- (EMA-) labeled RBC was performed in the patient and parents. The fluorescence histograms of EMA-labeled RBC from the patient and mother were shifted to the left, and the fluorescence ratio when compared with normal was 0.69 and 0.84, respectively. The flow cytometric test with EMA is useful in supporting the diagnosis of hereditary spherocytosis during newborn period

The efficacy of alendronate for the treatment of thalassemia-associated osteoporosis: a randomized controlled trial

BackgroundWith adequate blood transfusion and iron chelation, thalassemia patients have a longer life expectancy and experience long-term metabolic complications, including osteoporosis, fractures, and bone pain. Alendronate, an oral bisphosphonate, is currently used to treat various types of osteoporosis. However, the efficacy for the treatment of thalassemia-associated osteoporosis remains unclear.MethodsWe conducted a randomized controlled trial to evaluate the efficacy of alendronate for the treatment of osteoporosis in thalassemia patients. Patients were included if they were males (18–50 years) or premenopausal females with low bone mineral density (BMD) (Z-score < -2.0 SD) or positive vertebral deformities from vertebral fracture analysis (VFA). Stratified randomization was performed according to sex and transfusion status. Patients were 1:1 allocated to receive once weekly alendronate 70 mg orally or placebo for a total duration of 12 months. BMD and VFA were re-evaluated at 12 months. Markers of bone resorption (C-terminal crosslinking telopeptide of type I collagen; CTX) and bone formation (Procollagen type I N-terminal propeptide; P1NP), and pain scores were measured at baseline, 6 months, and 12 months. The primary outcome was the change of BMD. The secondary endpoints were changes in bone turnover markers (BTM) and pain scores.ResultsA total of 51 patients received the study drug, 28 patients were assigned to receive alendronate and 23 patients to receive placebo. At 12 months, patients in the alendronate group had significant improvement of BMD at L1-L4 compared to their baseline (0.72 ± 0.11 vs 0.69 ± 0.11 g/cm2, p = 0.004), while there was no change in the placebo group (0.69 ± 0.09 vs 0.70 ± 0.06 g/cm2, p = 0.814). There was no significant change of BMD at femoral neck in both groups. Serum BTMs were significantly decreased among patients receiving alendronate at 6 and 12 months. The mean back pain score was significantly reduced compared to the baseline in both groups (p = 0.003). Side effects were rarely found and led to a discontinuation of the study drug in 1 patient (grade 3 fatigue).ConclusionAlendronate 70 mg orally once weekly for 12 months effectively improves BMD at L-spine, reduces serum BTMs, and alleviates back pain in thalassemia patients with osteoporosis. The treatment was well tolerated and had a good safety profile

Gaps in Accessibility of Pediatric Formulations: A Cross-Sectional Observational Study of a Teaching Hospital in Northern Thailand

The lack of appropriate medicines for children has a significant impact on health care practices in various countries around the world, including Thailand. The unavailability of pediatric medicines in hospital formularies causes issues regarding off-label use and extemporaneous preparation, resulting in safety and quality risks relating to the use of medicines among children. This research aimed to identify missing pediatric formulations based on the experience of healthcare professionals in a teaching hospital in northern Thailand. A cross-sectional survey was conducted to collect data on missing pediatric formulations, the reasons for their inaccessibility, their off-label uses, their reactions to the situation, and suggestions to improve access to these identified medications. The survey was distributed to all physicians, nurses, and pharmacists involved in prescribing, preparing, dispensing, and administering pediatric medicines. A total of 218 subjects responded to the survey. Omeprazole, sildenafil, and spironolactone suspension were most often identified as missing formulations for children by physicians and pharmacists. They are unavailable on the Thai market or in any hospital formulary. For nurses, sodium bicarbonate, potassium chloride, and chloral hydrate were the most problematic formulations in terms of preparation, acceptability, and administration. These medicines were difficult to swallow because of their taste or texture

Acute Non-Atherosclerotic ST-Segment Elevation Myocardial Infarction in an Adolescent with Concurrent Hemoglobin H-Constant Spring Disease and Polycythemia Vera

Thrombosis is a major complication of polycythemia vera (PV) and also a well-known complication of thalassemia. We reported a case of non-atherosclerotic ST-segment elevation myocardial infarction (STEMI) in a 17- year-old man with concurrent post-splenectomized hemoglobin H-Constant Spring disease and JAK2 V617F mutation-positive PV. The patient initially presented with extreme thrombocytosis (platelet counts greater than 1,000,000/μL) and three months later developed an acute STEMI. Coronary artery angiography revealed an acute clot in the right coronary artery without atherosclerotic plaque. He was treated with plateletpheresis, hydroxyurea and antiplatelet agents. The platelet count decreased and his symptoms improved. This case represents the importance of early diagnosis, awareness of the increased risk for thrombotic complications, and early treatment of PV in patients who have underlying thalassemia with marked thrombocytosis