Author: Whited, T.

Abstract

DiGeorge Syndrome, also referred to as 22q11.2 deletion syndrome, is the most common microdeletion syndrome in humans (Kuo, Signer & Saitta, 2018)  It affects ~ 1 in 2,000-4,000 live births worldwide (McDonald-McGinn, 2018). DiGeorge has variable phenotypic expression.  Multiple systems can be affected including the heart, genitourinary tract, thymus, parthyroid, palate, and musculoskeletal systems (Sullivan, 2019).  Patients with DiGeorge syndrome can have developmental delays, learning disabilities, and psychiatric illness (Batavia et al., 2019). 

 Due the variable expression of DiGeorge Syndrome, the patient should have appropriate work up, diagnosis and management to allow them to reach their full potential.  The literature has identified multiple interventions for the diagnosis and care of these special children including management of heart disease, developmental screenings, early intervention, management of immunodeficiencies, and long term care (McDonald-McGinn, 2018; Sullivan, 2019; Swillen & McDonald-McGinn, 2015).     

This interactive session using the audience response system will assist providers in identifying the latest recommendations related to DiGeorge Syndrome.  The session will discuss the key components in caring for children with DiGeorge Syndrome and ways to maximize their potential.  Finally, the session will focus on the nurse practitioners role in caring for children and adolescents with DiGeorge Syndrome. Pediatric Nurse Practitioners need to be prepared to care for these challenging but wonderful patients.       

References 

Batavia, J. Crowley, T., Burrows, E. Zackai, E., Shanna-Cherchi, S., McDonald-McGinn, D. & Kolon, T. (2019).  Anomalies of the genitourinary tract in children with 22q11.2 deletion syndrome.  American Journal of Medical Genetics Part A, 179 (a), 381-385.  doi:  10.1002/ajmg.a.61020 

Kuo, C., Signer, R. & Saitta, S. (2018).  Immune and genetic features of the chromosome 22q11.2 deletion (DiGeorge Syndrome).  Current Allergy and Asthma Reports, 18 (2018), 75-82. doi:  10.1007/s11882-018-0823-5

McDonald-McGinn, D. (2018).  22q11.2 deletion syndrome: A tiny piece leading to a big picture.  American Journal of Medical Genetics, 176(10), 2055-2057. doi:  10.1002/ajmg.a.40653

Sullivan, K. (2019).  Chromosome 22q11.2 deletion syndrome and DiGeorge syndrome.  Immunological Reviews, 287(2019), 186-201.  doi:  10.1111/imr.12701

Swillen, A. & McDonald-McGinn, D. (2015).  Developmental trajectories in 22q11.2 deletion.  American Journal of Medical Genetics Part C, 169(C), 172-181.  doi:  10.1002/ajmg.c.31435

Conference/Symposium/Course name, dates and location where the work was supposed to be presented:

NAPNAP National Conference 2020. March 26th. Long Beach California

Authors:

1Meera Mohan, 2Naveen Yarlagadda, 2Dinesh Atwal,3Yadav Pandey, 3Arya Roy, 3Richa Parikh, 3James Lopez, 1Sharmilan Thanendrarajan, 1Carolina Schinke,4Daisy Alapat, 1Frits van Rhee, 5Samantha Kendrick, 1Maurizio Zangari

Author Affiliation:
1Myeloma Center, University of Arkansas for Medical Sciences, Little Rock, AR, 2 Department of Hematology oncology, University of Arkansas for Medical Sciences, Little Rock, AR,
3 Department of Internal Medicine, University of Arkansas for Medical Sciences, Little Rock, AR, 4 Department of Hematopathology, University of Arkansas for Medical Sciences, Little Rock, AR 5Department of Biochemistry and Molecular Biology, University of Arkansas for Medical Sciences, Little Rock, AR

Abstract

Background: Attainment of MRD negativity in multiple myeloma (MM) patients is increasingly considered an optimal therapeutic endpoint, but little is known about the MRD evolution in those who achieve this milestone. We investigated the clinical implication of loss of MRD negativity or MRD conversion in patients with ≥VGPR.

Methods: We identified and followed 606 patients achieving a sustained ≥VGPR with bone marrow MRD negativity(≥ 2 consecutive reading) following treatment on a total therapy protocol and with a median follow-up of 10 y. All patient had negative PET and MRI DWIBS at enrollment. Serial BM aspirate MRD was determined by 8- color next generation flow (NGF, EuroFlow) with a minimal sensitivity of 10-5 cells.

Results: Most MM patients were considered low risk with a UAMS GEP70 score of ≤ 0.66 (92%; 495/538) . While 60% (364/606) of patients had sustained MRD negativity, the remaining 40% (242/606) experienced MRD conversion with a 5.7 y median time from ASCT and 6.3 y from diagnosis. The risk of clinical relapse was significantly elevated in patients with MRD conversion compared to sustained MRD negativity (73%, 177/242 vs. 5%, 18/364; R.R. = 3.5; P < 0.0001). The median level of MRD positivity ( > 0.2 ratio of MM cells to normal plasma cells) also highly correlated with relapse (P< 0.0001). Loss of MRD negativity preceded clinical relapse by a median time of 1.1 years. Loss of MRD negativity without clinical relapse was seen in 27% (65/242). MRD conversion was associated with an inferior PFS and OS (PFS: 10.2 y vs. NR; P < 0.0001, H.R. 18.7; 95% CI 13.3 – 26.3 and OS: 26.1 y vs. NR; P = 0.01, H.R. 1.7; 95% CI 1.1 – 2.6). Furthermore, when MRD conversion was within 5 y of diagnosis compared > 5 y, patients had a worse OS (P < 0.0001, H.R. 17.2; 95% CI 7.8 – 37.8). We also observed that MRD conversion later than 5 years from diagnosis did not affect the OS. In a subset of patients (n = 144) the timing of first MRD negativity following treatment was available. Attainment of MRD negativity within 6 months of diagnosis compared to any time after 6 (https://asco.confex.com/asco/2020/sci/papers/index.cgi?username=299013&password=*cookie) 1/6 months was predictive of future MRD conversion (65%, 17/26 vs. 42%, 49/118; P = 0.03) and clinical relapse (54%, 14/26 vs. 28%, 33/118; P = 0.02).

Conclusions: MRD conversion occurs in a significant proportion of MM patients (40%) on long-term follow-up and predicts future clinical relapse. Significance of MRD conversion has a temporal relationship from diagnosis and portray inferior clinical outcome particularly within 5 years of diagnosis.

Conference/Symposium/Course name, dates and location where the work was supposed to be presented:

American Society of Clinical Oncology

Authors: Kalpana P. Padala, Shelly Lensing, Christopher Parkes, Kim Dean, Lillian Orr, Tracy Holder, Prasad R. Padala

Abstract

Background: Alzheimer’s Dementia (AD) is a major public health problem. Although the cognitive symptoms of AD garner the most attention, non-cognitive symptoms such as neuropsychiatric symptoms (NPS) and motor abnormalities contribute most to the functional decline seen in AD. Unfortunately, both NPS and gait and balance problems are common in AD and may share a common neurobiological etiology. Repetitive transcranial magnetic stimulation (rTMS), a non-invasive neuromodulation technique with the potential to enhance dopamine, is used to improve NPS particularly apathy. The objective was to study the effects of rTMS to the dorsolateral prefrontal cortex (DLPFC) on gait speed in AD.

Methods: A prospective randomized double-blind sham-controlled study was conducted in community dwelling older Veterans (N=20) with AD and apathy. Subjects received rTMS or sham treatments daily for four weeks for a total of 20 treatments. Treatment parameters were set at 10Hz stimulation, 120% Motor threshold (MT), and 3000 pulses per treatment although MT was lowered if necessary. Gait speed was assessed at baseline and 4 weeks.

Results: All subjects except one completed the study. Mean age was 77.3 (±7.2) years, 80% were Caucasian and 10% were female. After adjusting for baseline, there was a significantly greater improvement from baseline in the gait speed with rTMS treatment compared to sham treatment after four weeks of treatment (average between-group difference 0.10, (95% CI, 0.05-0.14) m/s, p<0.001). Treatment site discomfort was the most common adverse event.

Conclusions: rTMS may be used safely in patients with AD and may improve gait speed. Improved gait speed enhances physical function and decreases risk of falls, which may result in improved survival.

Conference/Symposium/Course name, dates and location where the work was supposed to be presented:

American Geriatrics Society, May 2020, Long Beach, CA

Authors: Paul Parcon, M.D., Ph.D.; C. Heath Gauss, M.S.; Kalpana Padala, M.D.; Prasad Padala, M.D.

Abstract

Background: Apathy in Alzheimer’s disease (AD) is increasingly being recognized as a separate and distinct clinical syndrome from depression and has an out-sized effect on caregiver burden and quality of life. Evidence shows methylphenidate is an effective treatment for this condition, but fears regarding cardiovascular effects of methylphenidate (MPH) in the elderly have limited its widespread use. This project sought to assess the differences in EKG time variables and interpretation collected from an RCT for apathy in mild AD, comparing methylphenidate to placebo.

Methods: We used data from cohort of 59 community-dwelling patients with mild AD (30 from MPH arm, 29 from placebo arm) obtained from a randomized controlled trial. EKG data collected at baseline, 4 weeks, and 12 weeks was analyzed for changes from baseline for PR interval, QRS interval, and QT/QTc interval via repeated measures mixed model analyses of covariance. The predictor variables in each model were arm, time, the interaction between arm and time, and the baseline value of the EKG time variable of interest. The two arms were compared with respect to changes from baseline to 4 weeks and to 12 weeks using model-based t tests. Also, EKG interpretations were assessed in the analyses.

Results: No statistical difference was found between the two arms regarding changes from baseline to 4 weeks for any of the EKG time intervals considered. For changes from baseline to 12 weeks, no statistical difference was found except for P (+11.7 MPH vs. placebo, p=0.0492) and T (+15.4, p=0.0437). Although no cardiovascular adverse events were reported by patients, in terms of the changes in EKG interpretations, 3 patients in the MPH arm showed EKG changes, while 7 were seen in the placebo arm. Two patients in the MPH arm demonstrated new septal infarcts, and one showed QT prolongation at 4 weeks (but not at 12 weeks). Of the 7 changes in the placebo arm, there was one new inferior infarct, 2 new LBBBs, one new RBBB, and one possible anterior infarct. Also in the placebo arm, there was one change from possible infarct to confirmed, and one instance of QT Prolongation at 4 weeks (but not at 12 weeks).

Conclusions: Our results demonstrate that over the trial period, no statistical difference was found in the EKG time intervals of patients randomized either to MPH or placebo group. Further, the changes in the EKG interpretations favored the MPH over the placebo group. These results may bolster the data on safety of MPH in apathetic elders, and hopefully will lead to more widespread use.

Conference/Symposium/Course name, dates and location where the work was supposed to be presented:

American Association for Geriatric Psychiatry
March 14-16
San Antonio, TX

Authors: Amanda Ederle, B.S.Ed., UAMS College of Medicine; Malan Kern, M.D., UAMS Department of Dermatology

Accepted for presentation at the Arkansas Dermatological Society Annual Meeting.

Authors: Soumya Pandey, Plummer Badger, Michele Cottler-Fox

Abstract:

Public cord blood banks have thresholds for accepting cord blood collections for processing based on economic models developed using surrogate markers of suitability, i.e. volume and total nucleated cell count (TNCC). Only after processing has it been possible to look at CD34+ cell numbers and Colony forming unit (CFU).

Since as few as 0.52 x105 CD34+ cells can be expanded in vitro and used successfully for transplant (Lancet Haematol on line Nov 5, 2019; doi.org/10.1016/S2352- 3026(19)30202-9), it is important to understand what is in the smaller collections that public bank guidelines currently prevent from being processed. Hybrid public/private cord blood banks permit economic support from the private bank to help support the public bank. They also offer an opportunity to evaluate products outside public banking thresholds because all collections are processed. Here we present data from the first 72 private cord blood unit (CBU) collections processed for the Cord Blood Bank of Arkansas, showing the relationship between collection volume, TNCC and CD34+ cell numbers.

Conference/Symposium/Course name, dates and location where the work was supposed to be presented:
International Society Cell and Gene Therapy (ISCT) Annual Meeting, 2020
Paris, France, May 27-30

Author: Matthew Pertzborn, Sanjiv Pasala, Mary Moore, Uday Chalwadi, Rasha M. Qaqish, Jordan Fett, Zena Ghazala, Erhan Ararat, Amit Agarwal, Ariel Berlinski

Abstract:

Introduction:
Diffuse alveolar hemorrhage (DAH) is a rare condition that can result from different etiologies. DAH has been associated with adenovirus infection in

12 immunocompromised patients . Acute DAH can be mitigated and recurrences of DAH can be prevented after systemic corticosteroid pulses . Use of intravenous 2 immunoglobulin (IVIG) has been attempted with variable reported results .

Case:
A 4 year old female was admitted to an outside hospital with a 1 day history of nasal congestion, cough, and increased work of breathing. Past history was significant for pulmonary tuberculosis at 2 years of age, which was treated per the family. Chest x-ray and computed tomography scan of the chest demonstrated patchy asymmetric alveolar opacities with prominent lung interstitium (Figure). Her hemoglobin was 2.4 grams/deciliter, for which she was given packed red blood cell transfusions (14 total during this illness).
Upon transfer to our institution, the exam was notable for tachypnea, accessory muscle use, and right lower lobe crackles without wheezes. She was intubated due to respiratory deterioration and bloody secretions were discovered. She required escalating positive end expiratory pressure (maximum 16 centimeters of water) to maintain oxygenation. Her lowest ratio of partial pressure of arterial oxygen to fractional inspired oxygen was 90 with an oxygenation index of 25.3. Respiratory viral polymerase chain reaction testing was adenovirus positive. Coagulation studies and echocardiogram were normal. An interferon gamma release assay for tuberculosis was not performed, but two respiratory acid-fast bacilli cultures (including one taken via deep endotracheal suctioning) were negative.
She completed a ceftriaxone course for empiric bacterial pneumonia coverage. She received two weekly 5 milligram/kilogram doses of cidofovir and three daily intravenous 30 milligram/kilogram methylprednisolone pulses. Her bloody secretions resolved, she was extubated, and she was discharged on room air 1 month after admission. She received a second course of intravenous methylprednisolone pulses and IVIG before discharge.
Discussion:
We report a rare case of diffuse alveolar hemorrhage in the setting of adenovirus respiratory infection in an immunocompetent patient. Though she clinically improved, we initiated monthly intravenous corticosteroid pulses and IVIG for a minimum of 12 months to prevent recurrence. This case is important because of the rare presentation with clinical improvement after administration of cidofovir and systemic corticosteroids.
References:
1) Von Ranke FM, et al. Infectious diseases causing diffuse alveolar hemorrhage in immunocompetent patients: a state-of-the-art review. Lung. 2013;191(1):9-18.
2) Schwarz MI, Brown KK. Small vessel vasculitis of the lung. Thorax. 2000;55:502-510.

Conference/Symposium/Course name, dates and location where the work was supposed to be presented:
American Thoracic Society 2020 International Conference
May 15-20, 2020, Philadelphia, PA

Author: Theresa O. Wyrick, M.D.

Conference/Symposium/Course name, dates and location where the work was supposed to be presented:
Philadelphia Hand Symposium
Philadelphia, PA
Friday March 13, 2020

Authors: Messias E, Flynn V, Peseschkian H, Jeste D, Christ C.

Abstract

Most adults spend more time at work than anywhere else. Given the fact that the majority of adult life is spent working, workplace wellbeing becomes increasingly important for overall wellbeing. In contrast to wellbeing, professional burnout is a syndrome of emotional exhaustion, depersonalization or cynicism, and low sense of personal accomplishment in response to chronic occupational stressors. Professional burnout affects one’s ability to successfully navigate the unique challenges at various stages of professional development, especially those during periods of role transition from learner to apprentice to early career professional. The consequences of burnout include depression, coping with alcohol or drug use, and broken relationships and professional errors, decrease in satisfaction, and intent to leave one’s job. Unfortunately, rates of professional burnout in human services professions have increased over the last decade. The unique professional challenges and opportunities can be viewed through a developmental lens, similar to Erikson’s psychosocial development model, and traversed by enhancement of various character strengths and virtues. An emphasis on positive psychosocial factors and enhancement of various character strengths and virtues may counter the negative response to these challenges. With the help of a professional coach or mentor, professional development can be navigated and personal, professional, and leadership development successfully guided.

Conference/Symposium/Course name, dates and location where the work was supposed to be presented:
APA Annual Conference, Tuesday, April 28, 2020

Abstract

Authors
Zeynep Ozinci, M.D. (chair), Musa Yilanli, M.D., Caroline Nardi, M.D., Srinivasa Gokarakonda, Nihit Kumar, MBBS

Technology Use (TU) is prevalent especially in children and teenagers, and there is a growing need for better understanding and assessing its impact on patients’ lives and daily functioning. An increasing body of literature reveals the direct and indirect impact of TU, and addressing clinical concerns regarding TU associated with academic difficulties, anxiety, depression, sleep problems, behavior addictions and deficits in overall functioning. To maintain and improve the quality of mental health care, there is a need to explore the TU of our patients and its associations with psychiatric disorders, and also develop clinical skills on how to effectively ask the pertinent questions (social media use, browsing, gaming as well as the content, frequency, and duration of use per day, late night or early morning use, etc.) The application of new interview practices in clinical psychiatry is indeed necessary and has the potential to help with reduction in symptoms and increase in academic performance, social skills, empathy, compassion, resilience and well being.

Being familiar with TU in the digital age and practical guidelines will increase a clinician’s overall knowledge, confidence, and clinical skill set in conducting effective interviews with the patients to help them overcome the negative consequences and engage in healthier technology use; while maintaining a successful therapeutic alliance.

During our session, we will summarize the current evidence base on the effects of TU on behavior, attention, cognitive skills, academic performance, impulsivity, mood, and sleep. Participants will gain a better understanding of the impact of TU in patients’ lives and the importance of implementing techniques into practice to better evaluate their social skills and development as well as their interests, strengths, and challenges.

We will provide information on practical interviewing skills and assessment techniques to further obtain information about the patients’ use of technology, to observe their thought process, decision- making, impulsivity, and temperament among other aspects of the clinical presentation; at the same time build rapport and establish a therapeutic alliance during the interview.

The audience will also become familiar with popular videogames and social media sites being used by youth, understand their potential positive and negative impact, learn how to use this knowledge to help children and families, and feel comfortable integrating new interview skills into their practices. It will help the participants address the needs of the patients in order to provide comprehensive care to the children and adolescents and improve their wellbeing through a review of scientific findings and practical guidance. Participants will then be given a chance to contribute to the topic and discuss possible interventions during video clip presentations. And at the end of the session, the audience will be provided with reliable resources to further their learning.

Conference/Symposium/Course name, dates and location where the work was supposed to be presented:
2020 Annual Meeting of the American Psychiatric Association, April 25-29, 2020, Pennsylvania Convention Center, Philadelphia, PA