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Perisa, Michael P.; Rose, Melissa J.; Varga, Elizabeth; Kamboj, Manmohan K.; Spencer, John D.; Bajwa, Rajinder P.S.
doi: 10.1002/pbc.27726pmid: 30900330
We present here a case of MIRAGE syndrome due to novel variant (c.2318T>C) in the sterile α motif domain‐containing protein 9 (SAMD9) gene. Previous reports have described the clinical phenotype, which includes myelodysplasia, recurrent infections, restriction of growth and development, adrenal insufficiency, genitourinary abnormalities, and enteropathies, often resulting in fatality within the first few years of life. This report illustrates the variability in phenotype by describing an 11‐year‐old male, diagnosed with MIRAGE at age 9 years when his novel variant was identified through whole exome sequencing. A brief review of previously published cases of MIRAGE syndrome and the genotypic and phenotypic spectrum are presented.
McGrath, Kathleen H.; Hardikar, Winita
doi: 10.1002/pbc.27702pmid: 30854790
Children with cancer are at risk of malnutrition, which can impair critical childhood processes of growth and development and contribute to poor health outcomes. Enteral nutrition can effectively ameliorate malnutrition or weight loss in children with cancer; however, published nutrition support algorithms contain minimal specific information on gastrostomy tube use, and current literature is limited. Decisions about gastrostomy tube insertion in children with cancer can be challenging. Consideration of gastrostomy tube insertion is only appropriate in children with long‐term dependence on enteral nutrition, particularly when nasogastric tube insertion is predicted or proven to be problematic. Specific indications for patient selection are unclear, and referring clinicians may be unaware of important absolute and relative contraindications. Complications are predominantly minor in nature; however, reported rates are high. Morbidity must be weighed carefully against the need and anticipated duration of enteral nutrition support, and further research in this area is needed.
Salsman, John M.; Bingen, Kristin; Barr, Ronald D.; Freyer, David R.
doi: 10.1002/pbc.27660pmid: 30756484
The financial impact of cancer treatment among adolescents and young adults (AYAs, 15–39 years) is deep and long lasting. Compared with other age groups, because of their life stage, AYAs are particularly vulnerable to the adverse economic effects of cancer treatment, also known as financial toxicity. Clinical manifestations of cancer‐related financial toxicity include interrupted work and income loss, accumulated debt, treatment nonadherence, avoidance of medical care, and social isolation. Effective clinical interventions should include efforts to increase financial self‐efficacy as well as direct support. Measures that are valid, reliable, multidimensional, and age‐appropriate are needed to study and address financial toxicity in the AYA population.
Yates, Amber M.; Joshi, Vijaya M.; Aygun, Banu; Moen, Joseph; Smeltzer, Matthew P.; Govindaswamy, Devi; Dowdy, Jola; Cotton, Alyssa; Kang, Guolian; Ware, Russell E.; Hankins, Jane S.
doi: 10.1002/pbc.27717pmid:
Regling, Katherine; Kakulavarapu, Srikruthi; Thomas, Ronald; Hollon, Wendy; Chitlur, Meera B.
doi: 10.1002/pbc.27714pmid: 30945453
Von Willebrand disease (VWD) is an inherited bleeding disorder that is caused by a quantitative or qualitative deficiency of von Willebrand factor (VWF). The National Heart, Lung, and Blood Institute (NHLBI) guidelines for the diagnosis of VWD state that a VWF activity (VWF:RCo) of <30 IU/dL or <50 IU/dL with symptoms of clinical bleeding are consistent with the diagnosis of VWD. However, current gold‐standard diagnostic testing takes days to have complete results. Thromboelastography (TEG) is a testing method that provides a graphical trace that represents the viscoelastic changes seen with fibrin polymerization in whole blood, therefore providing information on all phases of the coagulation process. This study describes the TEG characteristics in 160 patients who presented for workup of a bleeding disorder and a subset of those were subsequently diagnosed with VWD. The TEG parameters, K‐time (representing the dynamics of clot formation) and the maximal rate of thrombus generation (MRTG), were found to be sensitive in detecting patients with VWF:RCo <30 IU/dL. The TEG, unlike VWF:RCo, can be done in real time, and results are available to the clinician within an hour. This will definitely be beneficial in acute situations such as evaluation of and management of acute bleeding in patients with acquired deficiencies of VWF and may play an important role in the surgical management of patients with VWD.
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Elevated tricuspid valve regurgitation jet velocity (TRV ≥ 2.5 m/s) is associated with mortality among adults with sickle cell disease (SCD), but correlative biomarkers are not studied according to treatment exposure or genotypes. To investigate the associations between biomarkers and TRV elevation, we examined the relationship between TRV and hemolytic, inflammatory, and cardiac biomarkers, stratified by disease‐modifying treatments and SCD genotype. In total, 294 participants with SCD (mean age, 11.0 ± 3.7 years) and 49 hereditary spherocytosis (HS; mean age, 22.9 ± 19.75 years) were included for comparison and enrolled. TRV was elevated in 30.7% of children with SCD overall: 18.8% in HbSC/HbSβ+‐thalassemia, 28.9% in untreated HbSS/HbSβ0‐thalassemia, 34.2% in HbSS/HbSβ0‐thalassemia hydroxyurea‐treated, and 57% in HbSS/HbSβ0‐thalassemia chronic transfusion treated. TRV was elevated in 10.7% and 27.8% in HS children and adults, respectively. In children with SCD, elevated TRV was correlated with hemoglobin (odds ratio [OR] = 0.78, P = 0.004), lactate dehydrogenase (LDH; OR = 2.52, P = 0.005), and N‐terminal pro‐brain natriuretic peptide (NT‐pro BNP; OR = 1.003, P = 0.004). In multivariable logistic regression, adjusting for genotype, sex, hemolytic index, and treatment, hemoglobin concentration remained the only significant variable associated with elevated TRV in untreated HbSS/HbSβ0‐thalassemia participants. TRV was not associated with inflammatory markers, other markers of hemolysis, or NT‐pro BNP in untreated HbSS/HbSβ0‐thalassemia. Neither hemoglobin nor LDH was associated with TRV in HbSC/HbSβ+‐thalassemia. These results suggest that elevated TRV is influenced by the degree of anemia, possibly reflecting sickling as part of the disease pathophysiology. Prospective studies should monitor hemoglobin concentration as children with SCD age into adulthood, prompting initiation of TRV screening and monitoring.