Nirmish Shah

Patients welcome the Sickle Cell Disease Mobile Application to Record Symptoms via Technology (SMART).

Abstract The widespread use of mobile phones among patients provides a unique opportunity for the development of mobile health intervention designed specifically for sickle cell disease, which will improve self-management as well as health care delivery. Our objective was to determine the receptiveness of patients with sickle cell disease to technology and a mobile application (app) designed for sickle cell disease. Phase I included 100 patients who completed a survey inquiring about receptiveness to technology and use of mobile devices to self-manage and communicate with providers. Phase II surveyed 17 additional patients who tested a newly developed sickle cell disease app, to report its usability and utility. In Phase I, on a 0–10 Likert scale where 0 is not comfortable, and 10 is extremely comfortable, 87.0% of participants reported >5 comfort level using a mobile device for health care management. Participants were comfortable with texting (81.0%) and emailing (77.0%) but not with social media (40.0%). Most participants (84.0%) owned computer devices (desktops, laptops, tablets, or iPads), and 92.0% owned mobile devices. In Phase II, participants reported that the app tested was useful to track pain (88.0%), and 94.0% reported that it was easy to use, practical, and useful for health self-management. All reported that the app was useful to help one communicate with providers. Following the use of our app, patients found it an extremely valuable tool for tracking pain, health management, and communicating with providers. We conclude that mobile technology might provide an appropriate venue for sickle cell disease healthcare management.

Characterization of the hypercoagulable state in patients with sickle cell disease

BACKGROUND The pathophysiology of sickle cell disease (SCD) is complex, with increasing evidence of a pronounced prothrombotic state. OBJECTIVE We investigated thrombin generation in SCD utilizing calibrated automated thrombography (CAT) and D-dimer, with subsequent correlation to clinical disease. PATIENT/METHODS The study included 51 patients homozygous for hemoglobin S, either admitted for vaso-occlusive crisis (VOC) (n=34) or while in steady state and being seen in outpatient clinic (n=37). Twenty patients had blood drawn during both VOC and steady state. Mean values for CAT and D-dimer were compared between groups. Mean values for patients with and without clinical complications such as avascular necrosis and stroke were also compared. Linear regression was used to evaluate correlation to number of hospitalizations and for all pediatric patients, transcranial doppler (TCD) velocities. RESULTS The mean D-dimer during VOC (2743 ± 3118 ng/ml) was significantly higher than during steady state (1151 ± 802, p<0.0001). Comparison of crisis and steady state by CAT also revealed a significant difference in all phases of thrombin generation, including mean endogenous thrombin potential (1381 ± 295 nM vs 923 ± 316, p<0.0001) and peak thrombin generated (284 ± 9 vs 223 ± 18, p=0.0002). There were no significant differences in mean values for the clinical outcomes examined in adults. In pediatric patients, however, increased TCD velocities correlated with steady state D-dimer (r(2)=0.32, p=0.02) and thrombin-antithrombin complex (r(2)=0.28, p=0.04. CONCLUSION Hypercoagulable markers distinguish between patients with SCD during and between VOC, but do not correlate with specific clinical phenotypes.

Usability and Feasibility of an mHealth Intervention for Monitoring and Managing Pain Symptoms in Sickle Cell Disease: The Sickle Cell Disease Mobile Application to Record Symptoms via Technology (SMART)

Abstract Patients with sickle cell disease frequently experience severe pain events that lead to unplanned healthcare utilization. Mobile health tools (mHealth) may help prevent these events by providing remote monitoring and self-management support. This article describes the feasibility of the Sickle cell disease Mobile Application to Record symptoms via Technology (SMART), an mHealth app developed to help sickle cell disease patients monitor and manage their day-to-day symptoms. Fifteen patients recorded their pain intensity using a paper visual analog scale (VAS) and then repeated this measurement using an electronic VAS pain measure on SMART. Patients continued using SMART to record clinical symptoms, pain intensity, location and perceived severity, and treatment strategies for at least 28 days. Patient median age was 29 years (range 16–54); 60.0% were male. There was a high intraclass correlation between pain measurements entered on the paper VAS and SMART on the iPhone and the iPad We found a strong association between patient perceived pain severity and pain intensity entries using SMART (b = 1.71; p < 0.01). Daily compliance with SMART entries was a mean 75.0%, with a high of 85.7% in week 1 and low of 57.9% in week 4; however, one-third (n = 5) of the patients were 100.0% compliant even in week 4. Patients who were over age 35 or used an iPad for the study had the highest compliance rates. This study showed that SMART is a useable and feasible method for monitoring daily pain symptoms among adolescents and adults with sickle cell disease-related pain.

Severe fetal and neonatal hemolytic anemia due to a 198 kb deletion removing the complete β-globin gene cluster.

Fetal and neonatal hemolytic anemia can be caused by (γδβ)0‐thalassemia deletions of the β‐globin gene cluster. Many of these deletions have not been well characterized, and diagnostic tests are not readily available, thus hampering carrier detection, family counseling, and antenatal diagnosis. We report and define a 198 kb deletion removing the entire β‐globin gene cluster, which was found in members of a multigeneration family of Irish/Scottish descent. The proband had life‐threatening fetal and neonatal hemolytic anemia which subsided by 1 year of age. Pediatr Blood Cancer 2012; 59: 941–944.

Complications of implantable venous access devices in patients with sickle cell disease

Implantable venous access devices (VADs) are used in sickle cell disease (SCD) for patients with poor venous access to facilitate chronic blood transfusions and manage acute complications. We attempted to define the frequency of bloodstream infections (BSI) and thrombosis in adults and children with SCD and VADs. We performed a single-institution, retrospective review of VAD-associated infection and thrombosis in patients with SCD. Thirty-two patients (median age 20 years, range, 1-59) had 86 VADs placed (median, 2.7 VADs per patient, range, 1-7) with a total of 41,292 catheter days (median, 1,376 days; range, 323-3,999). Mean catheter lifespan in adults (691 days ± 123) was not significantly higher than children (614 days ± 154). A total of 66 VAD-associated BSI (1.59 infections per 1,000 catheter days) occurred in 17 of 32 (53%) patients. Children with VADs had fewer BSI (3 of 10; 30%) than adults (14 of 22; 64%, P = 0.08). 24 catheter-associated thromboses (0.49 thromboses per 1,000 catheter days) occurred in 10 of 32 (41%) of patients. Children also had fewer VAD-associated-thrombosis (1 of 10; 10%) than adults (9 of 22; 40%, P = 0.08). In conclusion, the use of VADs in SCD was linked to a significant rate of infection and thrombosis.

Presentation and outcomes for children with bone marrow necrosis and acute lymphoblastic leukemia: a literature review.

Bone marrow necrosis is a rare histopathology finding with the majority of cases occurring in the setting of a hematologic malignancy. This article reports a case of diffuse marrow necrosis in a child secondary to acute lymphoblastic leukemia and summarizes the clinical features and outcomes for children with bone marrow necrosis secondary to leukemia from 20 published reports. This review demonstrated that the most common presenting features were bone pain, fever, pancytopenia, and that outcomes were less favorable when compared with those without necrosis. However, contemporary literature suggests that outcomes are similar for children who have bone marrow necrosis secondary to leukemia when compared with overall survival rates for pediatric leukemia.

Attitudes of Primary Care Physicians Toward Sickle Cell Disease Care, Guidelines, and Comanaging Hydroxyurea With a Specialist

Background: Sickle cell disease (SCD) is a complex chronic disease requiring multidisciplinary care that involves primary care physicians (PCPs) working with a hematologist or SCD specialists. However, PCPs often lack access to SCD specialists and are unaware of SCD guidelines or efficacious treatment. Methods: We partnered with Community Care of North Carolina (CCNC) to identify assigned PCPs for SCD patients with Medicaid across North Carolina. CCNC network administrators distributed a web-based questionnaire for completion. The questionnaire involved 12 self-reported items on a yes-no or a 1 to 5 Likert-type scale that assessed PCP attitudes toward SCD care, awareness of recent guidelines, and comanaging hydroxyurea. Results: Of the 53 PCPs who completed the electronic survey, 73% felt they were comfortable with the number of SCD patients in their practice. Most PCPs reported having infrequent communications with an SCD specialist (67%) and most were also not aware of the 2014 SCD guidelines (66%). Many reported that they would frequently use the new SCD guidelines if provided to them (76%). Furthermore, 51% of PCPs expressed comfort with using mobile apps to access SCD guidelines and provided email contact to receive further information. The majority also reported being comfortable comanaging hydroxyurea with an SCD specialist (65%). Conclusion: Few PCPs in North Carolina were aware of the new SCD guidelines or had regular communication with an SCD specialist. The majority of PCPs, however, demonstrated a favorable attitude toward receiving the SCD guidelines and comanaging hydroxyurea with a specialist. In response to this gap in care, we have developed a mobile-based SCD toolbox specifically for PCPs to provide guidelines, algorithms, and a method to communicate with local SCD specialists. With the interest in receiving these guidelines, we are confident the toolbox will provide an easy to use platform to assist PCPs to utilize the SCD guidelines.

Utilizing a Novel Mobile Health “selfie” Application to Improve Compliance to Iron Chelation in Pediatric Patients Receiving Chronic Transfusions

Iron chelation therapy can prevent iron overload for pediatric patients with sickle cell disease and &bgr;-thalassemia major; however, adherence is suboptimal. Therefore, we developed an intensive training program (ITP), to improve medication management and disease knowledge. The objectives were to determine feasibility of the ITP and its preliminary impact on adherence, disease knowledge, and health outcomes. Pediatric patients were recruited to participate in the ITP over a 90-day period and were followed for 6 months. The ITP consisted of 3 components: (1) provider-led education modules; (2) patient recording daily videos of at-home medication administration; and (3) provider feedback through video messages through the ITP app. Eleven patients participated (mean=12.4 y). Initially, patients endorsed high satisfaction and ease of use and tracked their medication usage 81% (24 out of 30) of days. At 90 days, adherence rates remained consistent (80%) and disease knowledge retention was high (96%). At 6 months, participants exhibited a clinically relevant decrease in serum ferritin, which trended toward statistical significance (P=0.068). Medication possession ratio did not significantly increase (0.65 to 0.72; not significant). The mobile ITP was feasibly implemented in a clinical setting; in addition, high levels of compliance, disease knowledge retention, and acceptance encourage larger studies evaluating mobile health technology to improve child health parameters.

Characteristics of abdominal vein thrombosis in children and adults

The demographic and clinical characteristics of adults and children with lower extremity deep-vein thrombosis and/or pulmonary embolism (LE DVT/PE) may differ from those with abdominal vein thrombosis (abdominal VT). Abdominal VT can be a presenting sign of an underlying prothrombotic state, and its presence in the setting of known disease might have prognostic implications different from LE DVT/PE. This study describes clinical presentations of abdominal VT compared to LE DVT/PE in adults and children. We analysed prospectively-collected data from consecutive consenting patients enrolled in one of seven Centers for Disease Control and Prevention (CDC) funded Thrombosis and Hemostasis Network Centers from August 2003 to April 2011 to compare the demographic and clinical characteristics of adults and children with abdominal VT. Both adults and children with abdominal VT tended to be younger and have a lower body mass index (BMI) than those with LE DVT/PE. Of patients with abdominal VT, children were more likely to have inferior vena cava (IVC) thrombosis than adults. For adults with venous thromboembolism (VTE), relatively more women had abdominal VT than LE DVT/PE, while the proportions with LE DVT/PE and abdominal VT by sex were similar in children. Children with abdominal VT were more likely to have diagnosed inherited thrombophilia, while trauma was more common in children with LE DVT/PE. In conclusion, both children and adults with abdominal VT were younger with a lower BMI than those with LE DVT/PE. Significant differences exist between children and adults in respect to abdominal VT compared to LE DVT/PE.

Trends in Sickle Cell Disease-related Priapism in U.S. Children's Hospitals

OBJECTIVE To define rates of priapism diagnosis and inpatient admission among males with sickle cell disease (SCD). PATIENTS AND METHODS We retrospectively reviewed the Pediatric Health Information System database for males aged <21 years treated 2004-2012. We identified patients with SCD and priapism based on the International Classification of Diseases, Ninth Revision, Clinical Modification diagnosis codes. Logistic regression and generalized estimating equation models were used to control for confounding and to adjust for within-hospital clustering of similar patients. RESULTS We identified 17,186 males who were admitted 137,710 times during the study period. Of these, 362 (2.1%) were diagnosed with priapism on 748 admissions. There was a significant decrease in the number of priapism admissions among patients with SCD over time (0.81% in 2004 to 0.44% in 2012, P  <  .001). The number of patients diagnosed with SCD-related priapism varied over time without a statistically significant trend (2.3% in 2004, 2.69% in 2008, 1.01% in 2012, P  =  .34). Rates of priapism admissions (0-4.4%) varied widely between hospitals. Older patient age was associated with an increased likelihood of a priapism admission in the multivariate logistic regression model after adjusting for treatment year, hospital region, and for hospital-level clustering of similar patients. CONCLUSION From 2004 to 2012, the number of admissions for SCD-related priapism declined whereas the number of individual patients diagnosed with SCD-related priapism did not. Rates of priapism-related admissions in males with SCD vary widely among PHIS hospitals.