Pediatrics & Women's Health

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    Likelihood of clinics to refer pediatric hypertension patients to nephrology
    (2021) Noorani, Sahil; Khanna, Alisha
    Purpose Physician adherence to diagnostic criteria for pediatric hypertension (HTN) remains an area of active research. We investigated which specialty clinics were more likely to appropriately refer hypertensive patients to a nephrology clinic. Methods A retrospective study was conducted on patients, aged 3-18 years, who were referred to the Cook Children's Medical Center (CCMC) nephrology clinic for elevated blood pressure (EBP) over a 3-year period. Patients were excluded if they were referred previously, were referred for other conditions, or did not have ≥1 prior visit at CCMC with blood pressure recorded. Up to 10 prior visits with EBP were recorded for each patient. Analyses were performed to determine which clinics were more or less likely to refer to CCMC nephrology for hypertension. Results There were 120 patients referred with a total of 626 prior visits recorded with EBP; thus, in 16% of recorded visits with EBP, patients were referred to nephrology. Visits to outside clinics (35%) were more likely to give referrals than were visits to CCMC clinics (13%). Primary care (20%), emergency and urgent care (18%), and especially cardiology (29%) clinics were prone to refer. However, endocrinology (13%), neurology (2%), and other specialty clinics (9%) were less likely to refer. Conclusion Cardiology clinics were especially likely to refer, whereas neurology clinics were unlikely to refer for hypertension. This disparity could be attributed to unfamiliarity with the diagnostic criteria apparently linked to specialty-related exposure to this patient population. These results have implications for provider education at CCMC.
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    Rats with placental ischemia and preeclampsia-like symptoms have increased circulating cell-free mtDNA
    (2021) Gardner, Jennifer; Cushen, Spencer; Morton, Jude; Spaans, Floortje; Kirschenman, Raven; Davidge, Sandra; Phillips, Nicole; Goulopoulou, Styliani
    Preeclampsia (PE) is a hypertensive disorder of pregnancy, which is characterized by placental mitochondrial dysfunction. Increased circulating cell-free mitochondrial DNA (mtDNA) has been also reported in PE. Animal models are commonly used to study the role of placental dysfunction in the maternal syndrome of PE. The objective of this study was to determine the concentrations of circulating mtDNA in rat models of placental ischemia. Placental ischemia was induced in rats on gestational day (GD) 14 by placing clips on a) the abdominal aorta and ovarian arteries (reduced uterine perfusion pressure (RUPP)) and b) ovarian arteries and uterine arteries (selective RUPP (sRUPP)). Sham rats had clips placed on intraabdominal fat. Different groups of rats were exposed to hypoxia (11% O2) or maintained at atmospheric conditions (21% O2) from GD6 to GD21. Blood samples were collected on GD21. Real time PCR quantification of mtDNA was performed on DNA extracts from serum using TaqMan™ probes and chemistry. mtDNA copy number (CN) was greater in RUPP and sRUPP rats compared to their respective controls (Sham (11) vs. RUPP (11): 0.18 ± 0.04 CN/µl vs. 0.30 ± 0.04 CN/µl, p-value: 0.04; Sham (8) vs. sRUPP (10): 24.84 ± 3.29 CN/µl vs. 54.38 ± 3.29 CN/µl, p-value: 0.016)). Hypoxia did not affect mtDNA CN (Control (7) vs. Hypoxia (9): 0.28 ± 0.05 CN/µl vs. 0.36 ± 0.04 CN/µl, p-value: 0.28). Rats with placental ischemia have increased circulating cell-free mtDNA similar to what is seen in pregnant women with PE.
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    Factors Influencing U.S. Women's Willingness for Utilizing Human Papillomavirus Self-Sampling
    (2021) Garg, Ashvita; Galvin, Annalynn; Griner, Stacey; Rosberger, Zeev; Daley, Ellen; Thompson, Erika
    Purpose. HPV self-sampling is a novel method of HPV testing that is widely accepted in various countries. Recent modifications in the U.S. cervical cancer screening guidelines includes HPV testing and provides HPV self-sampling as another screening option, especially for underserved populations. Due to the scarcity of research regarding the process factors for HPV self-sampling, the current study examines the correlates of the willingness of women to have HPV self-sampling. Methods. A cross-sectional study was conducted among women between the ages of 30-65 years, with no history of hysterectomy (n=812). The outcome variable was a willingness to have HPV self-sampling test (yes/no). Predictor variables included various process factors. Adjusted logistic regression recognized correlates of HPV self-sampling willingness. Results. Higher odds of HPV self-sampling willingness were found among participants who preferred receiving self-sampling information from healthcare providers (OR=2.64; 95%CI 1.54, 4.52) or media (OR=2.30; 95%CI 1.51, 3.48). However, lower odds of self-sampling willingness were found among participants who did not want to pay for the self-sampling kit (OR=0.21; 95%CI 0.14, 0.32) or were not sure which method they preferred for receiving the kit (OR=0.15, 95%CI 0.07, 0.31) as compared to those preferred the mail. Conclusions. Prior to implementing any HPV self-sampling program, it is essential to understand women's preferences for process factors for this screening method for a successful implementation. Strengthening the infrastructural supports can help ensure improved and equitable access to this convenient and private screening method.
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    Catheter Directed Thrombolytic Therapy for Pediatric Cerebral Sinus Vein Thrombosis
    (2021) Torres, Marcela; Philip, Sarah; Hamby, Tyler; Tilley, Jo
    Purpose: Cerebral sinus vein thrombosis (CSVT) involves the thrombosis of the dural sinus and/or cerebral veins and is considered a form of stroke. No randomized clinical trials have been conducted on pediatric CSVT so current guidelines for treatment have been extrapolated primarily from adult studies. Method: This is a retrospective case review of patients treated with MT (Mechanical thrombectomy)/Catheter Directed Thrombolysis (CDT) for their CSVT at Cook Children's Medical Center. Results: Five children (aged 4 to 14 years) diagnosed with CSVT of multiple sinuses were treated with MT/CDT after failing anticoagulation treatment. Three patients had systemic bleeding prior to initiation of anticoagulation. All children were treated with UFH (unfractionated heparin) and due to neurologic deterioration and/or worsening of imaging findings needed MT/CDT. All cases had partial resolution of the sinus vein thrombosis, although 1 had quick re-occlusion. Post procedure bleeding happened in 1 patient and 2 patients developed petechial brain hemorrhages. Four patients had great neurologic recovery and minimal deficits, but 1 had significant neurologic deficits. One patient died from lupus complications. Conclusion: Endovascular therapy including MT and CDT with tPA (tissue plasminogen activator) in conjunction with systemic UFH, may have a role in pediatric patients with CSVT who have deterioration despite initial anticoagulation. In our series, after procedures, all patients had partial resolution of their CSVT (but 1 had quick re-occlusion) and 4 out of 5 patients had good neurologic outcomes despite coma or extensive CSVT.
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    Ethmoid Sinusitis as a Possible Differential in Orbital Complications: A Case Study
    (2021) Jung, Esther; Marcincuk, Michelle
    Background: Reoccurring orbital complications due to sinusitis are rare and are evidenced in limited literature. This case study attempts to provide insight into the broad differential of periorbital swelling through a pediatric patient who presented twice with orbital complications due to ethmoid sinusitis. Case Presentation: An 8-month-old male presented to the emergency department with periorbital cellulitis and evidence of ethmoid sinusitis in the left eye. Following intravenous clindamycin, the patient improved and was discharged. A year and a half later, the patient presented with fever and swelling in the same eye; however, this time he was unresponsive to antibiotics. A computerized tomography (CT) scan identified left postseptal orbital cellulitis with a subperiosteal abscess. After an endoscopic left maxillary antrostomy, total ethmoidectomy, and decompression of the orbital abscess, the patient recovered well with no changes in vision and no reoccurrences of orbital complications to date. Conclusions: Although orbital abscesses due to ethmoid sinusitis are quite rare, it is important to consider ethmoid sinusitis as a primary cause. The treatment options include surgical intervention that must take place rapidly to avoid irreversible consequences. The risk of radiation exposure in this population is further complicated since orbital abscesses due to primary sinusitis can only be definitively diagnosed by CT imaging. It is important for healthcare providers to keep ethmoid sinusitis in mind when considering the differential of periorbital swelling to minimize the risk of permanent complications in their pediatric patients.
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    Pediatric Response to Psychosocial Stressors During the COVID-19 Pandemic
    (2021) Bui, Priya; Fernandez, Jazmin; Singhal, Juhi; Garcia, Joanna; Chor, Holy; Villarreal, Marcus; Petrus-Jones, Michael
    Purpose: Due to the coronavirus (SARS-CoV-2) pandemic, the University of North Texas Health Science Center (UNTHSC) Pediatrics Clinic reduced the number of in-person visits starting in March of 2020. In response to a rise in child abuse-related fatalities in Tarrant County, the Pediatric Mental Health Calls (PMHC) Program was created with the goal of checking-in and providing support for patients at the UNTHSC Pediatrics Clinic and their caregivers. Methods: A list of patients from the UNTHSC Pediatrics Clinic is uploaded onto a database called REDCap. Call scripts are designed to standardize telephone conversations and evaluate mental and physical well-being during isolation. Medical and physician assistant (PA) students from UNTHSC are recruited and trained as volunteers. A UNTHSC Pediatric Clinic manager/licensed vocational nurse contacts patients that desire to speak with a provider in order to schedule an in-person appointment or virtual visit. Results: There have been 110 medical student and physician assistant volunteers that have participated in calling patients in this program. During the timeframe of April to November of 2020, there were a total of 2,338 patients called. Out of these patients, 262 of them requested to speak to a provider. Conclusion: Goals for the program include continuing to collect data, adding new patients to the database, and editing the call script to reflect changes. Future research plans are to identify rates of anxiety and depression among teenagers and postpartum mothers in social isolation.
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    Scholarly Review of NEJM Case Study of Amniotic Fluid Embolism
    (2021) Aird, Jessica; Patel, Anjali; Mitts, Matthew; Lagomichos, Melanie
    Background: Amniotic Fluid Embolism (AFE) is an unpredictable and rapidly-progressing obstetric emergency producing acute cardiovascular, hemodynamic and hematologic abnormalities. The annual incidence of AFE is difficult to determine but is estimated to be anywhere from 1 in 8,000 to 1 in 80,000 deliveries. Case Presentation: A 35-year-old African American G4P1021 female presented to labor and delivery at 36.4 weeks gestation for planned cesarean section. During the course of the pregnancy, she was diagnosed with an anteriorly placed placenta and complete placenta previa, and was evaluated twice for vaginal bleeding. Shortly after delivery of a healthy infant, the uterus became blanched with minimal bleeding. The patient became unresponsive and was noted to be in pulseless electrical activity with normal sinus rhythm on the monitor; resuscitation measures were initiated. Hysterectomy was required to control uterine hemorrhage. Transesophageal echocardiogram showed acute right ventricular failure and labs were consistent with disseminated intravascular coagulopathy. To increase preload and cardiac contractility and decrease afterload, inotropic agents and inhaled nitric oxide were administered. She received pRBCs (15 units), FFP (15 units), platelets (18 units) and cryoprecipitate (500 mL) to address her blood loss and coagulopathy. Tranexamic acid was also administered to prevent fibrin degradation. The patient stabilized in the cardiac surgical ICU and continued to show improvement, culminating in her discharge on postoperative day 5. Conclusions: This case illustrates a favorable outcome following a rare, commonly fatal, occurrence of AFE in a highly complicated pregnancy.
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    Women experiencing homelessness and their knowledge, attitudes, and beliefs about contraception and pregnancy: A systematic review
    (2021) Galvin, Annalynn; Garg, Ashvita; Spence, Emily E.; Thompson, Erika
    PURPOSE: Women who are homeless experience unintended pregnancy at considerably higher rates compared to the general U.S. population. This systematic review aims to summarize pregnancy prevention and contraception knowledge, attitudes, and beliefs among women experiencing homelessness to identify information, motivation, and behavioral skill barriers and facilitators to planned pregnancy and contraception use among this high-risk population. METHODS: Using the Preferred Reporting Items for Systematic Reviews and Meta-Analyses, this study examined qualitative, quantitative, and mixed-method articles published before September 2019, via PubMed, EBSCOHost, and Embase databases. Inclusion criteria were English, peer-reviewed, U.S.-based observational studies measuring knowledge, attitudes, and beliefs related to contraceptive use for avoiding pregnancy, specifically sampling women experiencing homelessness. Article quality was calculated, and results were thematically synthesized using the Information-Motivation-Behavioral Skills model. RESULTS: The initial search identified 407 articles, and seven met inclusion criteria. Many women reported past use of contraception, but consistency, type, and preferences varied. Many women also knew where to get contraception but had misconceptions about how various contraception methods worked. Salient motivational factors influencing contraceptive use included personal experience with contraception, dislike of side effects, and the power and social dynamics within partner, peer, and health care provider relationships. Numerous shelter-related and clinic-related contraception barriers were identified that uniquely affected this population. CONCLUSIONS: With this consolidated information provided by a systematic review, future interventions can promote theory-informed, non-coercive contraception decision-making with better access to preferred contraception methods for women experiencing homelessness.
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    Review of a Case With Vague Presenting Symptoms in Preparation for Clinical Rotations
    (2021) Lammers, Cara; Bowman, William; Basha, Riyaz
    Background: Conducting scholarly reviews of case studies as a preclinical medical student is a crucial supplement to classroom didactics and provides students with a clinical framework that can be applied throughout future clinical rotations. Case Information: In review of An 18.5-Month-Old Girl with Watery Diarrhea and Poor Weight Gain from New England Journal of Medicine (2010; 362:1619-1626), an otherwise healthy female infant presents with a reported 6 month history of watery diarrhea up to 15x per day. The child's weight decreased from 56th percentile at 7 months to < 10th percentile. Physical exam was normal without any organomegaly, tenderness, or masses. An extensive diagnostic workup was completed ruling out common food allergies, gluten-sensitive enteropathy, cystic fibrosis, and an invasive organism. Finally, the possibility of a tumor and associated paraneoplastic syndrome was considered, and a measurement of urinary catecholamines revealed elevated levels. A CT scan showed a calcified retroperitoneal mass without evidence of invasion. The mass was fully resected consistent with ganglioneuroma. At follow-up, the child was thriving without evidence of recurrent disease and normal catecholamine levels. Conclusions: Without prompt diagnosis, the outcome of this case could have been catastrophic leading to continued failure to thrive and developmental abnormalities. Using the case presented as a framework, I have developed my own systematic approach for patients presenting with vague symptoms. Furthermore, I keep tumors and cancerous etiologies at the forefront of my mind when developing differentials for patients with non-specific symptoms ensuring earlier diagnoses and interventions.
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    The Use of Yoga in Children with Autism
    (2021) Gracia, Lezirel; Salem, Yasser; Liu, Howe
    Purpose: Yoga is a Complementary and Alternative Medicine that uses breathing exercises, physical postures, and meditation to promote overall health. Over the last several years studies of yoga effects on children with autism have been published, but there was no literature report that analyzed and synthesized these available studies. Thus, the purpose of this systemic review was to examine the evidence regarding the effectiveness of yoga for children with autism. Methods: Articles were searched by using electronic databases PubMed, CINAHL, PEDro, and Scopus. A list of relevant literature was compiled and sorted based on predefined article selection criteria. The inclusion criteria included children up to the age of 18 years old with a diagnosis of autism spectrum disorder and any form of yoga used as the main exercise intervention. The exclusion criteria were systematic reviews, adults with autism, presence of other neurological disorders/diagnosis, or no-English version of a relevant article. Results: A total of 11 articles with 333 participants were analyzed. The articles analyzed were randomized control study, quasi-experimental, single group pretest-posttest, and pretest-posttest control group. There were wide ranges of participants' ages, sample sizes, intervention parameters, yoga exercises, and outcome measures used in the studies. Overall improvements were observed in behavior changes that consisted of communication, social interaction, and imitation skills. Conclusions: The evidence suggest that yoga exercises are effective in improving common behaviors seen in children with autism. Those being improvements in symptoms such as improved behavioral problems, social, emotional, and communication skills.
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    Scholarly Review of Case Study: "Recovery of a 16-Year-Old Girl from Trauma and Burns after a Car Accident"
    (2021) Weindruch, Louisa; Huettner, Nicole; Selby, Samuel
    In this project, we conducted a review of a case study from the New England Journal of Medicine as part of the 2020 Virtual Pediatric Research Program. The case details the medical management of a 16-year-old female who suffered both severe, full-thickness burns and a traumatic brain injury resulting from a motor vehicle accident. Our presentation aims to highlight important aspects of her care, which ultimately resulted in a positive outcome. We also discuss some of the nuances and challenges involved in caring for a patient with multi-system injuries. Lastly, we hope that our project can be an example of how students can engage in scholarly activities virtually and benefit from the analysis of case studies.
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    The Potential of a Medical Legal Partnership to Improve the Health of a 17 year old Patient with Undiagnosed Intellectual Disability
    (2021) Jethro, Sarah; Raines-Milenkov, Amy
    Background: Medical legal partnerships (MLP) foster equity and addresses Social Determinants of Health through legal advocacy and expertise. MLPs educate medical professionals on the legal rights of individuals with intellectual disabilities concerning medical services. Implementation of an MLP program in the pediatric setting could address the unmet need for a school evaluation. A related model, medical legal psychological partnerships (MLPP) add the benefit of psychological expertise to address school-related mental health needs. Here we apply the MLP and MLPP model to a single case. Case: The case is a 17-year-old girl who was admitted to a children's hospital for pain control and hydration post-tonsillectomy. She had a clinical suspicion of Autism and Bipolar disorder. This was believed to contribute to a three-year delay in her formal school education. The patient and her mother presented with multiple gaps in her care related to social determinants of health and health literacy. These included difficulties communicating pain level, comprehending therapy goals, and inappropriate expectations of recovery. Conclusions: If the patient presented in this case had access to an MLP or an MLPP she would have been able to access testing and treatment services resulting in an individualized education plan, receive medical and psychological treatment, as well as school-based behavior plan. MLP can be effective in removing barriers to care by addressing structural problems at the root of health inequities. MLPP's are effective at addressing complex needs with the goal of achieving equity.
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    A Clinical Case of Neonatal Alloimmune Neutropenia
    (2021) Aggarwal, Amit; Bruce, Keelie; McCavit, Timothy
    Background: Congenital neutropenia is a common problem in neonates and has myriad etiologies. Neonatal alloimmune neutropenia (NAIN) is among the most common causes of congenital neutropenia with an incidence of 2 per 1000 live births and has an excellent prognosis. NAIN is defined by maternally produced IgG antibodies directed against paternal and fetal neutrophil antigens, most commonly HNA-1a, HNA-1b, and HNA-2a. Case: A 3-week-old female presented with omphalitis and was found to have an absolute neutrophil count (ANC) count of 0. Once admitted and started on IV antibiotics, serial CBC monitoring revealed persistence of neutropenia with ANC counts < 300. On hospital day 3, she was started empirically on subcutaneous filgrastim (GCSF) 5 mcg/kg. Due to a modest response in her ANC, the filgrastim dose was subsequently increased to a max of 30mcg/kg before discharge. Evaluations for etiologies of neutropenia included antineutrophil antibody testing, genetic testing for severe congenital neutropenia (SCN), and a bone marrow exam. SCN was the initial, provisional diagnosis. However, the bone marrow aspiration revealed marked granulocytic hyperplasia with large clusters of promyelocytes, myelocytes, and metamyelocytes and a maturation arrest at the myelocyte – metamyelocyte stage. Antibody neutrophil antibody testing was positive for the HNA-1b antibody, whereas the genetic screen for SCN did not reveal pathogenic mutations. Therefore, she was diagnosed with NAIN and was subsequently weaned off GCSF with a normal ANC. Conclusion: This case illustrates an unusual presentation of NAIN and demonstrates the clinical heterogeneity of this disease state.
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    Systems Thinking: A Path to Reduce Maternal Pre-Pregnancy Obesity
    (2021) Nasiha Pattamaniar Sultan Maliq, Nihmath; Griner, Stacey
    Background Maternal pre-pregnancy obesity rates have been steadily increasing in the U.S. This issue is of importance because of its linkage with adverse health outcomes for mother and fetus. The impact of pregnancy complications on the quality of life of mothers and children from a life course perspective emphasizes the need to discover organizations that help in reducing this problem. Objective To apply a systems approach to identify ten organizations that provide pre-pregnancy healthcare services, to study their inter-dependency, and their unified function to address maternal pre-pregnancy obesity. Methods Web-based research was used to identify ten organizations that were mapped using the mindomo application based on national-level, state-level, and local-level organizations. Results A few of the identified organizations include The American College of Obstetricians and Gynecologists (ACOG), Women, Infants, and Children nutrition program (WIC), and Acclaim Nurse-Midwives that are inter-related to one another. For example, ACOG's obesity toolkit helps healthcare providers to diagnose obesity and refer patients to the WIC program where they are provided nutrition care and further referred to Acclaim Nurse-Midwives to acquire social support. The identified resources are organized into national, state, and local levels. Conclusion The delivery of preconception care is influenced by a great range of factors on a systemic level. There is a lack of resources that exclusively provide pre-conception care which emphasizes further research and policy changes that may ensure a reduction in pregnancy complications due to pre-pregnancy obesity.
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    The Effects of Medicaid Expansion on Women's Health
    (2021) Saxena, Raina; Kannan, Srijaa; Huang, Jacqueline
    Purpose: The purpose of this review is to identify how Medicaid expansion has impacted women's health. Before the expansion, patients from all states could qualify for coverage based on factors such as income, household size, disability, and family status. When certain states expanded Medicaid, this allowed for coverage based solely on income, improving enrollment rates. Methods: A literature search through various journals was utilized using terms such as Medicaid expansion, women's health, and maternal health. The goal was to find resources regarding the intersection between Medicaid, Medicaid expansion, and women's health. Results: In addition to allowing more reproductive-aged women to enroll, Medicaid expansion is associated with an overall increase in coverage, quality of care, and services for women. Specifically, it increased coverage of preconception, perinatal, and postpartum care, while lowering maternal mortality rates. However, the effects of expansion on breast and cervical cancer screening rates is uncertain. Some studies showed an increase in cancer screening rates; however, those that showed no significant change related it to barriers to access and supply of primary care providers available. Conclusions: Medicaid expansion has brought about favorable outcomes in women's health. Overall the number of women eligible for Medicaid coverage in participating states has expanded. It has improved maternal health and mortality and may show positive trends towards increasing cervical and breast cancer screening rates. Further research on variables such as ethnic and racial disparities, access to care, and physician availability may provide further insight into the differences between expansion and nonexpansion states.
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    Assessing Body Image Perception among Children aged 10-14, and their Caregivers
    (2021) Desai, Shivani; Fernando, Shane; Habiba, Nusrath; Fulda, Kimberly; Bowman, William
    Purpose: The incidence of Type 2 Diabetes Mellitus in children continues to rise in the country. According to the ADA, in 2011-2012, the annual incidence of diagnosed diabetes in youth was estimated at 5,300 with T2DM. Not only can T2DM be managed with appropriate measures but also be prevented if the risk factors are identified. Methods: 10-14 year-old children and their caregivers participated in a 2-hour research study in which questions about body silhouettes were asked. Child subjects identified which body silhouettes (gradient from 1: very thin to 9: obese) they currently looked like and the ones they wished to look like. Similarly, parents were asked to do the same for their child. Results: Male and female children wanted their desired silhouette number to be less than the number they picked for their current shape. The amount of male children who chose silhouette numbers 1-5 increased by 39% between their current and desired shape and for female children the increase was by 28%. For parents of male children, the increase was by 47% and for parents of female children, the increase was by 15%. Conclusion: This study suggests that the perception of desiring a thinner body were similar between male and female children and their parents. These body silhouettes may have potential as a screening tool for body image and healthy behaviors. Through this model, health care professionals can gauge their patient's perception on their body weight and help them facilitate conversation towards healthy behaviors.
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    Identifying Congenital Disorders of Glycosylation
    (2021) Gorrepati, Krishna; Hamby, Tyler; Bowman, William
    Congenital Disorders of Glycosylation (CDG) constitute a diverse group of errors involved with protein glycosylation, a post-transcriptional modification that is essential for life. Due to the diversity of clinical presentations of CDG, they lead to multiple organ systems that are affected and delayed diagnosis. CDGs are usually diagnosed through whole exome sequencing, but carbohydrate deficient transferring (CDT) testing is a quick and cost-effective alternative that can be used as a screening tool for CDG. Although CDGs are rare and have varying presentations, there are two main subtypes, CDG I and CDG II; both of which we explored. We reviewed findings of seven confirmed cases of CDG (5 boys and 2 girls, with a mean age of 6.42 years at diagnosis) followed at Cook Children's Medical Center. We looked at the most common symptoms and age of diagnosis to determine which symptoms led to a diagnosis of CDG. The most frequent symptoms include ataxia (n=6), developmental delay (n=7), and hypotonia (n=7). Typically, within a year of documentation of these symptoms, a diagnosis was established either through CDT testing or WES. In cases that both CDT testing and WES were done, the CDT test proved to show results that correlated with WES. We believe that this is an important finding because when children present with ataxia, with or without developmental delay, and hypotonia, a CDT test can be ordered by a primary care physician as a rapid and economical screening tool that could lead to a quicker diagnosis of CDG.
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    A 14-Month-Old Girl with Recurrent Vomiting
    (2021) Rodriguez, Monica; Esteban, Danielle; Donahue, David
    Background: Hydrocephalus is an abnormal accumulation of cerebrospinal fluid (CSF) in the brain's ventricles. As the ventricles enlarge, brain pressure increases, leading to cognitive difficulties, impaired vision, delayed development, and death. Epidemiologic studies estimate a yearly average of 6,000 hydrocephalus cases in newborns. Case Presentation: A 14 month and 19-day old female infant suffered recurrent episodes of vomiting. The first episode occurred at age 11 months and 12 days. The emergency room (ER) diagnosis was viral gastroenteritis; vomiting resolved with supportive care and antiemetic medication. The following two months she returned to the ER three times for recurrent vomiting. On the last ER visit, her parents reported developmental regression during the previous three months. Examination findings included frontal bossing, full fontanelle with visible pulsations, enlarged head circumference (>95th percentile), and signs of pyramidal tract dysfunction. Magnetic resonance imaging showed enlargement of the lateral and third ventricles with cerebral aqueduct stenosis. No masses or lesions were noted. In this case, the rapid increase in head circumference, developmental regression, and imaging results was key to the diagnosis of increased intracranial pressure due to aqueductal stenosis with hydrocephalus. Therapies for hydrocephalus include shunts and endoscopic third ventriculostomy (ETV). This patient was successfully treated with an ETV, creating an opening in the third ventricle to drain excess CSF. Untreated, hydrocephalus could have caused further developmental regression, brain damage, and even death. Conclusions: This case illustrates the importance of primary care continuity, tracking developmental milestones and head circumference using growth charts.
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    HIV Prevalence and Associated Risk Factors among Female Truck Stop and Street Sex Workers
    (2021) Tummala, Sruthi; Felini, Martha
    Female sex workers have disproportionately high rates of HIV compared to the general population due to unique behavioral and structural risk factors. While there are well established risk factors associated with HIV, there is a lack of US population-based studies due to the transient and illegal nature of exchanging sex for survival or for drugs and money. A secondary analysis of 1138 women in substance use treatment and with histories of sex exchange was conducted using data originally collected from 2012-2016 through a street level cervical cancer prevention services program in Dallas, Texas. Using a cross-sectional study design, we assessed self-reported behavioral risk factors (number of sexual partners, condom use, injection drug use), mental health history, and sociodemographics (age, race, and homelessness) by HIV screening status. The prevalence of HIV was 0.99%, 11 of 1116). HIV prevalence was statistically different between race/ethnicity groups (p = 0.001), number of sex partners (p < 0.0001), and STI positive screens (p < 0.0001). Considering the observed HIV prevalence rate against the female US population and female sex worker population in the US, findings demonstrate the need for development of targeted HIV screening and prevention efforts in this high-risk population.
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    Pediatric asthma: social, environmental, and potential genetic disparities across racial/ethnic groups
    (2021) Raju, Shilpa; Moss, Katelyn; Cross, Deanna
    Purpose: Asthma affects nearly 300 million people worldwide and is the most common chronic condition in children. The purpose of our study was to identify potential disparities between racial and ethnic groups in children with asthma. We analyzed the social and environmental factors contributing to asthma as well as the potential genetic factors. Methods: A literature review was conducted using key words (asthma, children, race, etc.) on PubMed and Center for Children's Health to determine what factors affected asthma diagnosis. To identify genetic contributions to asthma, we used resources such as ClinVar and dbSNP to identify genes associated with asthma. Results: Housing quality, pollution, discrimination, and place of residence all contributed to disparities in asthma prevalence among the pediatric population. Black patients have 1.25 times the asthma prevalence and twice the mortality rates of the U.S general population. Compared with non-Hispanic white children, Asian Indian, Native American and multiple-race children had higher odds for current asthma. Hispanic patients were similar in prevalence patterns to black patients. Genetic loci on 17q21, near IL1RL1, TSLP and IL33 are associated with asthma risk in three ethnic groups while the PYHIN1 and PTCHD3 genes are associated with asthma in the African American population. We identified 19 known asthma-related genes that are still not well characterized for racial/ethnic allelic differences. Conclusions: Environmental factors leading to the disparities in asthma diagnosis have been studied extensively. Further research is needed to analyze gene associations with asthma in ethnic groups and gene- environment interactions.