Browsing by Author "Mustafa, Manahil"

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    Co-Occurrence of Sotos Syndrome and Mayer-Rokitansky-Küster-Hauser (MRKH) Syndrome in 2 Patients
    (Oxford University Press, 2025-02-11) Mustafa, Manahil; Mitscher, Mary K.; Johnson, Nancy B.; Fuqua, John S.; Pediatrics, School of Medicine
    Sotos syndrome is an autosomal dominant condition caused by a pathogenic variant of NSD1 and characterized by a distinctive facial appearance, learning disability, and overgrowth. Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a congenital disorder characterized by agenesis or aplasia of the uterus and upper part of the vagina in females with a normal female karyotype. The coexistence of the 2 syndromes has been reported only twice to date. We describe 2 girls with Sotos syndrome who presented with primary amenorrhea. The patient in case 1 had central precocious puberty diagnosed at age 6.5 years, which was appropriately managed for 2 years. The patient in case 2 had congenital hypothyroidism due to thyroid aplasia, treated with levothyroxine. Investigations in both girls revealed normal gonadotropin and estradiol levels. Pelvic ultrasound and magnetic resonance imaging showed absence of the uterus and the presence of normal ovaries. Based on these findings, both patients were diagnosed with müllerian agenesis/MRKH. The presence of Sotos and MRKH syndromes in these 2 patients, along with the 2 previously documented cases, might be coincidental. However, with 4 reported cases, the possibility exists for a rare link between Sotos syndrome and MRKH. Additionally, the psychosocial effect of infertility should not be underestimated.
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    Quality of Resuscitative Care Provided to an Infant with Abusive Head Trauma in Community Emergency Departments: An In Situ, Prospective Simulation-Based Study
    (Wolters Kluwer, 2022-01) Lutfi, Riad; Berrens, Zachary J.; Ackerman, Laurie L.; Montgomery, Erin E.; Mustafa, Manahil; Kirby, Michele L.; Pearson, Kellie J.; Abu-Sultaneh, Samer; Abulebda, Kamal; Pediatrics, School of Medicine
    Objectives Abusive head trauma (AHT) is a very common and serious form of physical abuse, and a major cause of mortality and morbidity for young children. Early Recognition and supportive care of children with AHT is a common challenge in community emergency department (CEDs). We hypothesized that standardized, in situ simulation can be used to measure and compare the quality of resuscitative measures provided to children with AHT in a diverse set of CEDs. Methods This prospective, simulation-based study measured teams' performance across CEDs. The primary outcome was overall adherence to AHT using a 15-item performance assessment checklist based on the number of tasks performed correctly on the checklist. Results Fifty-three multiprofessional teams from 18 CEDs participated in the study. Of 270 participants, 20.7% were physicians, 65.2% registered nurses, and 14.1% were other providers. Out of all tasks, assessment of airway/breathing was the most successfully conducted task by 53/53 teams (100%). Although 43/53 teams (81%) verbalized the suspicion for AHT, only 21 (39.6%) of 53 teams used hyperosmolar agent, 4 (7.5%) of 53 teams applied cervical spine collar stabilization, and 6 (11.3%) of 53 teams raised the head of the bed. No significant difference in adherence to the checklist was found in the CEDs with an inpatient pediatric service or these with designated adult trauma centers compared with CEDs without. Community emergency departments closer to the main academic center outperformed CEDs these that are further away. Conclusions This study used in situ simulation to describe quality of resuscitative care provided to an infant presenting with AHT across a diverse set of CEDs, revealing variability in the initial recognition and stabilizing efforts and provided and targets for improvement. Future interventions focusing on reducing these gaps could improve the performance of CED providers and lead to improved patient outcomes.