Pediatrics & Women's Health
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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 Systems Thinking: A Path to Reduce Maternal Pre-Pregnancy Obesity(2021) Nasiha Pattamaniar Sultan Maliq, Nihmath; Griner, StaceyBackground 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.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 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 The Effects of Medicaid Expansion on Women's Health(2021) Saxena, Raina; Kannan, Srijaa; Huang, JacquelinePurpose: 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.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 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 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 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 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 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, ErikaPURPOSE: 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.Item Review of a Case With Vague Presenting Symptoms in Preparation for Clinical Rotations(2021) Lammers, Cara; Bowman, William; Basha, RiyazBackground: 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.Item The Use of Yoga in Children with Autism(2021) Gracia, Lezirel; Salem, Yasser; Liu, HowePurpose: 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.Item 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, SamuelIn 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.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 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, AmyBackground: 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.Item Scholarly Review of Case Studies: Disparities in the Clinical Presentation of Skin Lesions and the Severity of the Etiology in Pediatric Patients(2021) Gartstein, EvelynBackground: Skin lesions in the pediatric population derive from a variety of etiologies, such as infection, atopic diseases, and oncological disorders. Many conditions can present with cutaneous manifestations with similar features, although some underlying causes have malignant origins and warrant rapid confirmation of the diagnosis. Acute leukemia is the most common cancer in childhood. Infants can frequently present with leukemia cutis, prior to bone marrow invasion; however, genetic analysis of the presenting skin lesions can confirm features that aid in identifying the diagnosis and initiating proper treatment. Case Presentation: A 5-month-old girl presents with a diffuse cutaneous eruption and a solitary plaque and physical exam revealed no concerning abnormalities, such as hepatosplenomegaly or lymphadenopathy, and the complete blood count was normal. The conclusion that the presenting lesions were related was made and the initial diagnosis was urticaria pigmentosa, based on the unremarkable exam and lab features. However, a pathological exam and genetic analysis of the skin lesions revealed a diagnosis of AML with a translocation of the MLL gene at chromosome 11q23. The bone marrow aspirate did not meet the full criteria for an AML diagnosis. Although the patient initially presented healthily and her bone marrow showed rare blast cells, the patient suffered from progressive cutaneous and CNS involvement and passed away. Conclusions: The features of this case, through scholarly review, illustrate the importance of thorough diagnostic testing for cutaneous conditions in young patients, as well as retaining malignant causes within one's differential.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 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, StylianiPreeclampsia (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.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.