Pediatrics & Women's Health
Permanent URI for this collectionhttps://hdl.handle.net/20.500.12503/30448
Browse
Browsing Pediatrics & Women's Health by Title
Now showing 1 - 20 of 32
- Results Per Page
- Sort Options
Item A 14-Month-Old Girl with Recurrent Vomiting(2021) Rodriguez, Monica; Esteban, Danielle; Donahue, DavidBackground: 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.Item A 20-Year-Old Man with Sore Throat, Fever, Myalgias, and a Pericardial Effusion(2021) Ghalla, Sheena; Hatch, JonathanBackground: Adult Onset Still's Disease is rarely diagnosed, yet if missed, can lead to severe consequences. In this scholarly review of a case study, we analyze an article from the New England Journal of Medicine titled, "A 20-Year-Old Man with Sore Throat, Fever, Myalgias, and a Pericardial Effusion." Observations: The patient initially presented with a fever and diffuse myalgia that had progressively gotten worse over the following days. He developed sore throat, shortness of breath, and pain on the left side of his chest. Antibiotics were administered to the patient but showed no relief of symptoms. Eventually, the patient was admitted to the hospital, where he developed faint pink macules on his forearms and lower extremity pitting edema. Diagnosis: While this patient presented with a variety of signs and symptoms, he presented with 7 of the 8 Yamaguchi criteria, often used in diagnosing Adult Onset Still's Disease. These included temperature ≥39°C lasting ≥ 1 week, arthralgias lasting for ≥ 2 weeks, rash, leukocytosis, sore throat, abnormal LFTs, and negative ANAs and RFs. Presence of the Yamaguchi criteria combined with an absence of other disease processes left Adult Onset Still's Disease as the final diagnosis. The patient was treated with burst steroids and IL-1 receptor antagonists for quick resolution. Consequences of Wrong Diagnosis: Diagnosing Adult Onset Still's Disease is crucial to preventing deadly sequelae such as macrophage activation syndrome, disseminated intravascular coagulopathy, thrombotic thrombocytopenic purpura, diffuse alveolar hemorrhage, and pulmonary arterial hypertension.Item A 32-Day-Old Male Infant with a Fall(2021) Barzkar, Hasti; Ali, Saqeeb; Brewer, MaxieBackground: Abusive head trauma is a form a child abuse that leads to brain injuries. Currently, it's the most common cause of traumatic death in children less than 2 years old. Case presentation: A 32-day-old male infant was evaluated in the emergency department after the mother reported the infant fell from a bed while she briefly stepped away. The mother comforted the crying infant for several minutes before he suddenly became quiet which prompted her to call emergency medical services. After a benign physical exam, a head CT revealed multiple densities which were concerning for a cerebral hemorrhage and, thus, abusive head trauma. The patient was transferred to another emergency department where a thorough history and physical exam were conducted again. A head MRI at the second hospital revealed multiple foci of hemorrhage. The following differential diagnoses were considered: metabolic disease, benign hemorrhage, cerebral sinus venous thrombosis, birth trauma, accidental trauma and bleeding disorders. After reviewing the patient's family history and laboratory studies, an initial diagnosis of intracranial hemorrhage due to a bleeding disorder during parturition was made. The patient was discharged and followed up over multiple visits. Repeat physical exams, MRI, and laboratory studies were all negative for signs of a bleeding disorder. A final diagnosis of intracranial hemorrhage due to birth trauma was made. Conclusion:This case highlighted the importance of ruling out differentials that present similarly to abusive head trauma since a diagnosis of child abuse can lead to dire consequences for the child and parents.Item A Clinical Case of Neonatal Alloimmune Neutropenia(2021) Aggarwal, Amit; Bruce, Keelie; McCavit, TimothyBackground: 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.Item A Scholarly Review of NEJM Case 14-2017: A 20-Year-Old Man with Pain and Swelling of the Left Calf and a Purpuric Rash(2021) McCormack, LaurenBackground: IgA vasculitis is characterized by a classic tetrad of purpura, joint pain, abdominal pain, and renal involvement. The incidence in adults is 0.8-1.8/100,000. Case Information: A 20-year-old male presented with a two-week history of left calf pain with swelling and purpura. The patient's history was significant for Crohn's disease, for which he took adalimumab. Additionally, the patient had a recent upper respiratory infection. A skin punch-biopsy demonstrating immunofluorescence with IgA, C3, and fibrin was instrumental in confirming the clinical diagnosis of IgA vasculitis. IgA vasculitis is commonly triggered by infection or medication. Anti-TNF-alpha medications not only predispose the patient to infection, but studies suggest they trigger IgA vasculitis. The patient's symptoms of purpura, non-erythematous asymmetric swelling, and lower extremity joint pain are also consistent with the diagnosis of IgA vasculitis. Conclusions: The positive impact of this study is two-fold. First, this case highlights how the diagnosis was missed early in the disease course. Early diagnosis and treatment are essential to preventing further complications including intussusception and glomerulonephritis. Secondly, the patient's presentation is unique, as he did not present with the abdominal pain or renal involvement classically associated with IgA vasculitis. By studying this case with an experienced rheumatologist, we acquired skills such as weighing differential diagnoses and collecting a thorough history. More specifically, we learned about the importance of long-term management to prevent glomerulonephritis, as well as the proper use of glucocorticoids as treatment for IgA vasculitis.Item Assessing Accessibility to Domestic Violence Resources within Tarrant County: A Community-Based Study of Prevalence, Barriers, and Proposed Solutions(2021) Das, Siddharth; Siddiqui, Umar; Nguyen, Jacqueline; Bhachawat, Neal; Katamaneni, Varun; Dolan, Kathryn J.Purpose: Intimate partner violence is a common issue affecting 1 in 4 women and 1 in 10 men in the U.S. Tarrant county has a higher incidence rate of 1 in 3 women. It is important to understand the impact of abuse on individuals and evaluate the accessibility of resources available. In this study, we aim to perform a systematic review of the resources available to people at a national, state, and local level. Methods: Our study determined which resources at the national, state, and local levels were most likely sought out by domestic violence victims from Tarrant county. From database searches, we selected and interviewed various resources about those who sought their services and the barriers that victims typically face. Results: Locally, victims are able to access the following: National Domestic Violence Hotline, National Resource Center on Domestic Violence, Texas Family Violence Program, Texas Council on Family Violence, Freedom House, and SafeHaven. The interplay of national, state, and local programs depends on local entities providing a strong structure for support and referral. For example, SafeHaven is often overwhelmed by those seeking temporary housing, who are then discouraged to seek out further programs or services. Conclusion: Despite the various resources offered to victims, there are many barriers such as distance, finances, social, and cultural factors that can hinder a victim's accessibility to these resources. The significance of these barriers is ultimately the social and health ramifications on victims: increased possibility of emotional distress and disease.Item Assessing Body Image Perception among Children aged 10-14, and their Caregivers(2021) Desai, Shivani; Fernando, Shane; Habiba, Nusrath; Fulda, Kimberly; Bowman, WilliamPurpose: 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.Item Case 19-2018: A 15-Year-Old Girl with Acute Kidney Injury(2021) Patel, NandeetaAtypical Hemolytic Uremic syndrome (aHUS) in children is a thrombotic microangiopathy which causes acute kidney injury (AKI), anemia, and thrombocytopenia. As compared to typical HUS caused by Shiga-Toxin producing E. Coli, atypical HUS may result from pregnancy, drugs, malignancy, or complement factor deficiency (most likely cause in this case). Case presentation: A 15-year-old Caucasian female presented to the hospital in the summer with 8 days of abdominal cramping, bloody diarrhea, vomiting, fatigue, and insomnia. She visited NYC for a few days and ate street food before experiencing symptoms. VS: T: 36.9°C, HR: 71 bpm, RR: 18, O2 Sat: 100%, BP: 124/75. She appeared mildly ill and pale on PE with tenderness in the upper abdomen and moderate ascites in the lower abdomen. Pmhx includes ADHD, anxiety, and labial adhesions. Patient's medications include citalopram and methylphenidate. Patient used ibuprofen with no relief of symptoms. Blood chemistry showed elevated BUN (97 mg/dl) and Creatinine (7.71 mg/dl)I, Sodium diminished at 132 mmol/liter, elevated AST/ALT, and elevated lipase. BUN/Creatinine ratio was 12.58. CBC showed diminished hemoglobin, decreased MCV, diminished haptoglobin, and thrombocytopenia. PBS showed anisocytosis, microcytosis, 1+ polychromasia, and enlarged platelets. Urinalysis was 3+ protein, 2+ blood and 20-50 RBC/HPF. Abdominal ultrasound showed mildly distended bladder, pelvic ascites, and abnormal contents in the gallbladder. Patient's stool cultures and antigen-detection tests were negative for causative organisms. Treatment included a meningococcal vaccine before receiving biweekly Eculizumab infusions for 6 months supported by 6 hemodialysis sessions and a blood transfusion.Item Case Study of Profound Uterine Fibroids(2021) Fletcher, Andrew; Le, Konnie; Hsieh, Emma; Fisher, CaraEmma Hsieh, Konnie Le, Andrew Fletcher, OMS-I, Cara L. Fisher, Ph.D. Abstract: Background: Uterine fibroid, also called leiomyoma, is a common benign tumor that affects more than 200,000 individuals annually. It is often associated with conditions such as endometriosis or polycystic ovary syndrome, which are also common gynecological issues in the United States. Case Information: During a routine dissection of a 67-year-old African American female cadaver multiple uterine fibroids were found, including one large pedunculated fibroid located outside the uterus, as well as a pedunculated intracavitary fibroid filling the uterine cavity. The intracavitary fibroid caused an enlargement and hardening of the uterus. The intracavity fibroid was calcified with "tooth-like" structures on the surface. The uterine artery would have supplied the uterus and thus the fibroids, facilitating their growth. In this case, the tumor compressed the nerves and vessels around it and impinged the bladder, rectum, and other reproductive structures. Pelvic structures were difficult to identify in the dissection due to the size of the fibroids and the shifting of the pelvic viscera. Conclusion: This case study shows a rare incident of fibroids presentation in cadavers, as most women around her age have often undergone hysterectomy. In addition, the fibroids showed extensive growth and calcification, occupying a large space in her pelvic region. It is important to document findings of fibroids, like the ones discovered in this case study, as they are often associated with serious medical implications, such as pelvic pain, urinary issues, or intermenstrual bleeding.Item Case Study Reviews as a Valuable Learning Tool for Medical Students(2021) Lane, Cassidy; Mcminn, BrookeBackground: Review of "Case 9-2004: An 18-Year-Old Man with Respiratory Symptoms and Shock" published in the New England Journal of Medicine provided second year medical students with valuable insight into the complexities of patient care. Case Information: The patient initially presented as an outpatient with non-specific symptoms including fever, myalgia, and cough and was treated for a bacterial infection. The patient decompensated upon admission to the hospital 5 days after presentation of his initial symptoms. He continued to decline as physicians placed him on various medications for pain, hypotension, bacterial infections, and multiorgan failure. The patient expired 32 hours after presentation to the hospital. Despite a negative rapid flu test upon presentation to the ER, autopsy results revealed an Influenza A infection that caused a systemic response, ultimately leading to shock and death. Conclusions: Case studies are vital learning tools for medical students and clinicians alike. Medical students in particular tend to spend much of their time memorizing diseases, symptoms, lab tests, and medications individually. It isn't until they are thrust into the clinic that they are able to see how all of these factors interact with one another to determine the patient's outcome. Having pre-clinical medical students to review case studies allows them to gain a greater understanding of the complexities of patient care and allows them to see how physicians respond to the various challenges that are presented. This builds valuable critical thinking skills that will better prepare them for clinical rotations.Item Case Study: Ruling in Multisystem Inflammatory Syndrome - COVID 19 (MIS-C)(2021) Qureshi, Sana; Surve, SajidMultisystem Inflammatory Syndrome in Children (MIS-C) is a new diagnosis that has come up recently in the pediatric population. It has been classified as a Kawasaki disease-like multisystem inflammatory disease occurring post-COVID-19 infection. The criteria for the diagnosis of MIS-C is a positive serology for COVID-19 along with fulfilling full or partial criteria for diagnosis of Kawasaki disease. MIS-C is treated with high-dose steroids, aspirin, heparin, and repeat EKGs and echocardiograms. The broad diagnosis criterion ensures no cases are missed but at the same time, it is not very sensitive. MIS-C can be deadly in the pediatric population but are there differentials that need to be ruled out to make this criterion more sensitive for MIS-C? In this case report, we present a 12-year-old girl who was diagnosed and treated for MIS-C. MIS-C will be contrasted with Rickettsia typhi, a common flea-borne disease diagnosed in the south Texas population. Rickettsia serology is used to confirm the diagnosis of typhus but most infections are treated without confirmatory tests in the scenario of high clinical suspicion as the test has a high false-negative rate, especially early in the course of the disease. The clinical presentation of typhus overlaps with that of Kawasaki disease. In this case, we present the argument for more specific markers to differentiate MIS-C from typhus, which may cause harm due to the unnecessary treatment of children with steroids and anticoagulation therapy.Item Catheter Directed Thrombolytic Therapy for Pediatric Cerebral Sinus Vein Thrombosis(2021) Torres, Marcela; Philip, Sarah; Hamby, Tyler; Tilley, JoPurpose: 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.Item Challenges in the management of obesity and comorbidities in an adolescent patient(2021) Pham, Jennifer; Motamedi, Shoaleh; Villarreal, Marcus; Habiba, NusrathBackground: Obesity is a common condition, especially among adolescents. In the United States, the Center of Disease Control states that as of 2019, 18.5% of adolescents are considered overweight. Case Information: 15-year-old female presents to a Weight Center for severe obesity. The patient had an uncomplicated gestation and was adopted at one month. No biological family history is available, except for a grandmother known to be overweight. Despite similar environmental factors, like dietary patterns and nutrition, her BMI at age 3 rose to the 97th percentile, unlike her siblings. After enrollment to a monthly weight control program, at age 8 on physical exam she appeared overweight with mild acanthosis nigricans of the neck. Upon a 15 kg weight increase from age 10 to 11, her pediatrician enrolled her in another weight control program. At age 13, she was diagnosed with obstructive sleep apnea and nocturnal somnambulation. At age 14, following menarche, she began to experience irregular menstrual cycles accompanied with worsening fatigue and rebound weight gain 20 kg. At age 15, severe acanthosis nigricans was noted on her neck and axillae with an android pattern hair growth. After numerous efforts and programs, a bariatric surgery was performed at 19 resulting in a 13 kg weight decrease and improvements of her acanthosis nigricans on her wrists and ankles, except for her neck. Conclusions: This case illustrates a unique presentation of severe pediatric obesity and the significant effect of biological determinants in comparison to developmental and environmental factors.Item Ethmoid Sinusitis as a Possible Differential in Orbital Complications: A Case Study(2021) Jung, Esther; Marcincuk, MichelleBackground: 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.Item 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, ErikaPurpose. 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.Item HIV Prevalence and Associated Risk Factors among Female Truck Stop and Street Sex Workers(2021) Tummala, Sruthi; Felini, MarthaFemale 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.Item Identifying Congenital Disorders of Glycosylation(2021) Gorrepati, Krishna; Hamby, Tyler; Bowman, WilliamCongenital 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.Item Likelihood of clinics to refer pediatric hypertension patients to nephrology(2021) Noorani, Sahil; Khanna, AlishaPurpose 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.Item Outcomes of Weight Loss during Induction Therapy for Childhood ALL(2021) Wickramage, Pavithra; Farooq, IfrahPediatric patients with acute lymphoblastic leukemia (ALL) and lymphoblastic lymphoma (LLy) often experience significant weight gain during remission induction therapy. However, some experience significant weight loss instead. This population is not widely recognized. This study aims to determine whether significant weight loss during induction therapy decreased likelihood of reaching end of therapy (EOT) or increased risk of death or relapse. This was a retrospective study of 187 patients, aged 2-20 years, diagnosed with ALL and LLy at Cook Children's Medical Center from 1/1/11 to 3/31/17. Percent weight change from diagnosis to end of induction was grouped: loss (≥5% loss), gain (≥5% gain), and steady (< 5% loss/gain). To examine outcomes of weight loss, logistic regression was used for reaching EOT and Cox regression for death and relapse. Weight-change categories were 17% loss, 39% steady, and 45% gain. Eighteen (10%) patients did not reach EOT; 10 (5%) patients died; and 22 (12%) patients relapsed. Compared to the steady category, patients who lost weight were significantly less likely to reach EOT (OR=0.31, 95% CI=0.16-0.63, p< 0.01). Though nonsignificant, the hazard ratios demonstrated increased risk of death (HR=3.67, 95% CI=0.81-16.52, p=0.09) and relapse (HR=1.83, 95% CI=0.60-5.60, p=0.29). Patients in the steady and gain groups did not significantly differ in any outcomes (p>0.05). Patients who experience malnutrition during induction therapy may be at greater risk for not completing therapy. Those in the loss group had higher mortality rates (13%) than those in the steady or gain (4%) groups.Item Pediatric asthma: social, environmental, and potential genetic disparities across racial/ethnic groups(2021) Raju, Shilpa; Moss, Katelyn; Cross, DeannaPurpose: 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.