Sarah Yasmeen Afzal

All Publications

• Infant in extremis: respiratory failure secondary to lower airway infantile hemangioma. BMC pediatrics MacDougall, M. S., Afzal, S. Y., Freedman, M. S., Han, P. 2022; 22 (1): 744

  Abstract

  Infantile hemangiomas (IHs) are vascular tumors that commonly affect infants and usually regress spontaneously or can be easily treated as an outpatient with topical beta-blockers. However, IHs that present in the airway may cause life-threatening symptoms due to airway obstruction or risk of bleeding. Here we present the first documented case of an infant with rapid deterioration and acute respiratory failure secondary to a lower airway hemangioma.This 3-month-old male initially presented in respiratory distress with symptoms consistent with a viral respiratory infection, however showed no clinical improvement with standard therapies. An urgent CT scan revealed a mass occluding the right mainstem bronchus. Upon transfer to a tertiary care facility, he developed acute respiratory failure requiring emergent intubation and single lung ventilation. The availability of multiple subspecialists allowed for stabilization of a critically ill child, expedited diagnosis, and ultimately initiation of life-saving treatment with beta blockers. After 17 total hospital days, he was extubated successfully and discharged home in good condition.While IH is a rare cause of infantile respiratory distress, we present multiple pearls for the general pediatrician for management of IHs of the airway.

  View details for DOI 10.1186/s12887-022-03821-1

  View details for PubMedID 36581920

• Unique hepatic manifestations of COVID-19-induced immune dysregulation in children. Clinical case reports Kleinhenz, J., Wagner, E., Afzal, S. Y., Shaarbaf, H., De Avila, J. L., Azzam, R. 2022; 10 (11): e6510

  Abstract

  The two cases we present are the first to demonstrate novel manifestations of COVID-19 related interaction between the liver and the immune system in pediatric patients. Written informed consent was obtained from the parent/guardian to publish this report in accordance with the journal's patient consent policy.

  View details for DOI 10.1002/ccr3.6510

  View details for PubMedID 36415706

• Genome-wide fetalization of enhancer architecture in heart disease Cell Reports Spurrell, C. H., Barozzi, I., Kosicki, M., Mannion, B. J., Blow, M. J., Fukada-Yuzawa, Y., Slaven, N., Afzal, S. Y., Akiyama, J. A., Afzal, V., Tran, S., Plajzer-Frick, I., Novak, C. S., Kato, M., Lee, E. A., Garvin, T. H., Pham, Q. T., Kronshage, A. K., Lisgo, S., Bristow, J., Cappola, T. P., Morley, M. P., Margulies, K. B., Pennacchio, L. A., Dickel, D. E. 2022; 40 (12)

  View details for DOI 10.1016/j.celrep.2022.111400

• Acute Pancreatitis in Children PEDIATRIC ANNALS Afzal, S., Kleinhenz, J. 2021; 50 (8): E330-E335

  Abstract

  Acute pancreatitis has become a common general pediatric condition with an increasing incidence over the past 2 decades. It presents with nonspecific complaints of abdominal pain, vomiting, and nausea. Therefore, it is crucial to have it on the differential diagnosis, as it requires prompt treatment and has the potential to become life-threatening. Although pancreatic rest, antiemetics, analgesia, and hydration remain the mainstay of treatment, a new perspective on fluid management, early enteral nutrition, and opioid use has evolved. This review identifies gaps in management awareness and provides understanding on long-term implications of acute and recurrent pancreatitis. This article also reviews the epidemiology, diagnostic criteria, imaging and procedural modalities, common causes, management, and complications of acute pancreatitis and is geared toward the general pediatric hospitalist. [Pediatr Ann. 2021;50(8):e330-e335.].

  View details for DOI 10.3928/19382359-20210713-01

  View details for Web of Science ID 000686261600007

  View details for PubMedID 34398718

• Professional tribute: Dr. Mary D. Jones. Journal of pediatric rehabilitation medicine Afzal, S. Y. 2021; 14 (1): 5-6

  View details for DOI 10.3233/PRM-219003

  View details for PubMedID 33780382

• Genome-Wide Fetalization of Enhancer Architecture in Heart Disease bioRxiv Cailyn, S. H. 2019

  View details for DOI 10.1101/591362

• Enhancer redundancy provides phenotypic robustness in mammalian development. Nature Osterwalder, M., Barozzi, I., Tissières, V., Fukuda-Yuzawa, Y., Mannion, B. J., Afzal, S. Y., Lee, E. A., Zhu, Y., Plajzer-Frick, I., Pickle, C. S., Kato, M., Garvin, T. H., Pham, Q. T., Harrington, A. N., Akiyama, J. A., Afzal, V., Lopez-Rios, J., Dickel, D. E., Visel, A., Pennacchio, L. A. 2018; 554 (7691): 239-243

  Abstract

  Distant-acting tissue-specific enhancers, which regulate gene expression, vastly outnumber protein-coding genes in mammalian genomes, but the functional importance of this regulatory complexity remains unclear. Here we show that the pervasive presence of multiple enhancers with similar activities near the same gene confers phenotypic robustness to loss-of-function mutations in individual enhancers. We used genome editing to create 23 mouse deletion lines and inter-crosses, including both single and combinatorial enhancer deletions at seven distinct loci required for limb development. Unexpectedly, none of the ten deletions of individual enhancers caused noticeable changes in limb morphology. By contrast, the removal of pairs of limb enhancers near the same gene resulted in discernible phenotypes, indicating that enhancers function redundantly in establishing normal morphology. In a genetic background sensitized by reduced baseline expression of the target gene, even single enhancer deletions caused limb abnormalities, suggesting that functional redundancy is conferred by additive effects of enhancers on gene expression levels. A genome-wide analysis integrating epigenomic and transcriptomic data from 29 developmental mouse tissues revealed that mammalian genes are very commonly associated with multiple enhancers that have similar spatiotemporal activity. Systematic exploration of three representative developmental structures (limb, brain and heart) uncovered more than one thousand cases in which five or more enhancers with redundant activity patterns were found near the same gene. Together, our data indicate that enhancer redundancy is a remarkably widespread feature of mammalian genomes that provides an effective regulatory buffer to prevent deleterious phenotypic consequences upon the loss of individual enhancers.

  View details for DOI 10.1038/nature25461

  View details for PubMedID 29420474

  View details for PubMedCentralID PMC5808607

• The effect of low magnitude mechanical stimulation (LMMS) on bone density in patients with Rett syndrome: a pilot and feasibility study. Journal of pediatric rehabilitation medicine Afzal, S. Y., Wender, A. R., Jones, M. D., Fung, E. B., Pico, E. L. 2014; 7 (2): 167-78

  Abstract

  Low magnitude mechanical stimulation (LMMS) has been used successfully to promote bone formation in certain patient populations. This study evaluated the feasibility and effectiveness of LMMS on improving bone mineral density (BMD) in patients with Rett syndrome.A 12-month crossover pilot study design of 6 months of intervention with LMMS and 6 months without was studied in 14 subjects divided in two subgroups. BMD was assessed using Dual Energy X-ray Absorptiometry (DXA). The levels of 25-hydroxy vitamin D (25OHD), Parathyroid Hormone (PTH), Insulin-Like Growth Factor 1 (IGF-1), and circulating markers of bone resorption (NTx) were analyzed in blood samples. Health questionnaires and diet logs were obtained at 0, 6, and 12 months.Of the 11 subjects who completed the protocol, 9 had an adherence of > 65% and showed an increase in spine BMD Z-scores from the intervention (Z: -2.51) compared to non-intervention period (Z: -2.27) of 0.23 SD (p=0.048). Following intervention, favorable trends were also observed for IGF-1 (p=0.06) and right distal femur BMD Z-scores (p=0.07).These preliminary results are promising for a larger, placebo-controlled randomized study of subjects with Rett syndrome.

  View details for DOI 10.3233/PRM-140286

  View details for PubMedID 25096869