Browsing by Author "Khurana, Monica"

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    Lung clearance index in children with sickle cell disease
    (Wiley, 2021-05) Machogu, Evans M.; Khurana, Monica; Kaericher, Jennifer; Clem, Charles C.; Slaven, James E.; Hatch, Joseph E.; Davis, Stephanie D.; Peterson-Carmichael, Stacey; Pediatrics, School of Medicine
    Introduction The lung clearance index (LCI) derived from the multiple breath washout test (MBW), is both feasible and sensitive to early lung disease detection in young children with cystic fibrosis and asthma. The utility of LCI has not been studied in children with sickle cell disease (SCD). We hypothesized that children with SCD, with or without asthma or airway hyperreactivity (AHR), would have an elevated LCI compared to healthy controls. Methods Children with SCD from a single center between the ages of 6 and 18 years were studied at baseline health and completed MBW, spirometry, plethysmography and blood was drawn for serum markers. Results were compared to healthy controls of similar race, age, and gender. Results Healthy controls (n = 35) had a significantly higher daytime oxygen saturation level, weight and body mass index but not height compared to participants with SCD (n = 34). Total lung capacity (TLC) z-scores were significantly higher in the healthy controls compared to those with SCD (0.87 [1.13] vs. 0.02 [1.27]; p = .005) while differences in forced expiratory volume in 1 s z-scores approached significance (0.26 [0.97] vs. −0.22 [1.09]; p = .055). There was no significant difference in LCI between the healthy controls compared to participants with SCD (7.29 [0.72] vs. 7.40 [0.69]; p = .514). Conclusion LCI did not differentiate SCD from healthy controls in children between the ages of 6 and 18 years at baseline health. TLC may be an important pulmonary function measure to follow longitudinally in the pediatric SCD population.
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    Recurrent Metastatic High‑Grade Osteosarcoma: Disease Stabilization and Successful Pregnancy Outcome following Aggressive Multimodality Treatment
    (Wolters Kluwer, 2018) Khurana, Monica; Gruner, Barbara; Sathi, Bindu Kanathezhath; Medicine, School of Medicine
    Prognosis for refractory/recurrent metastatic osteosarcoma (OS) remains dismal with 3-year survival rates <20%. Achievement of more than 5 years of stable, refractory/recurrent metastatic OS disease in our patient is itself unique and attributable to multimodality therapy. Her high-dose chemotherapy regimen with alkylating agents did not lead to infertility, making her case even more unique. Successful disease stabilization and pregnancy outcome in our patient with metastatic multiple relapsed OS is one of the first cases published. We need further understanding and exploration of pathogenesis, chemoresistant mechanisms, and multimodality therapies including immunotherapy for OS.
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    Whole-exome sequencing enables correct diagnosis and surgical management of rare inherited childhood anemia
    (Cold Spring Harbor Laboratory Press, 2018-10-01) Khurana, Monica; Edwards, Donna; Rescorla, Frederic; Miller, Caroline; He, Ying; Potchanant, Elizabeth Sierra; Nalepa, Grzegorz; Pediatrics, School of Medicine
    Correct diagnosis of inherited bone marrow failure syndromes is a challenge because of the significant overlap in clinical presentation of these disorders. Establishing right genetic diagnosis is crucial for patients' optimal clinical management and family counseling. A nondysmorphic infant reported here developed severe transfusion-dependent anemia and met clinical criteria for diagnosis of Diamond-Blackfan anemia (DBA). However, whole-exome sequencing demonstrated that the child was a compound heterozygote for a paternally inherited pathogenic truncating variant (SPTA1 c.4975 C>T) and a novel maternally inherited missense variant of uncertain significance (SPTA1 c.5029 G>A) within the spectrin gene, consistent with hereditary hemolytic anemia due to disruption of red blood cell (RBC) cytoskeleton. Ektacytometry demonstrated abnormal membrane flexibility of the child's RBCs. Scanning electron microscopy revealed morphological aberrations of the patient's RBCs. Both parents were found to have mild hereditary elliptocytosis. Importantly, patients with severe RBC membrane defects may be successfully managed with splenectomy to minimize peripheral destruction of misshapen RBCs, whereas patients with DBA require lifelong transfusions, steroid therapy, or hematopoietic stem cell transplantation. As suggested by the WES findings, splenectomy rendered our patient transfusion-independent, improving the family's quality of life and preventing transfusion-related iron overload. This case illustrates the utility of whole-exome sequencing in clinical care of children with genetic disorders of unclear presentation.