2021
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Item 5-Methoxyindole-2-Carboxylic acid (MICA) as a potential caloric restriction mimetic(2021) Evans, Zachary; Yan, Liang-JunPurpose: Calorie restriction (CR), as an intervention to influence aging and disease, has been demonstrated to show an inhibitory effect on dihydrolipoamide dehydrogenase (DLD), the E3 subunit of pyruvate dehydrogenase. Elevated DLD activity has been linked with an increased generation of reactive oxygen species (ROS). Increased levels of ROS contribute to aging effects and decreased life span. Theoretically, an inhibitor of DLD would produce the same decrease in ROS as CR. Methods: Searching PubMed with keywords such as caloric restriction, dihydrolipoamide dehydrogenase, 5-methoxyindole-2-carboxylic acid, reactive oxygen species, etc. Results: 5-Methoxyindole-2-Carboxylic acid (MICA) has been shown to inhibit DLD activity which could potentially limit the level of ROS produced in the body. Conclusion: Because of this mechanism of action, we have proposed that MICA has the potential to provide, at least in part, calorie restrictive mimicry by carrying out some of the beneficial physiological effects of CR.Item 5-Methoxyindole-2-Carboxylic Acid (MICA) Fails to Retard Development and Progression of Type II Diabetes in ZSF1 Diabetic Rats(2021) Yan, Liang-JunPurpose: 5-Methoxyindole-2-carboxylic acid (MICA) is a well-established reversible inhibitor of mitochondrial dihydrolipoamide dehydrogenase (DLDH). This chemical, as an indole derivative, has been shown to be neuroprotective against ischemic stroke injury when administered either before or after ischemic stroke in animal models. MICA has also been studied as a potential antidiabetic agent by numerous investigators, though the underlying mechanisms remain sketchy. To attempt to elucidate the mechanisms of its antidiabetic action, we tested the effect of MICA on ZSF1 rat, a widely used rodent model of type 2 diabetes. Methods: ZSF1 rats as well as its healthy controls were fed with control diet or MICA-containing diet (200 mg/kg/day) for 9 weeks, and then comparison of body weight changes and blood glucose levels at the end of the 9-week's feeding period were made. Conclusion: Our data indicate, unexpectedly, that MICA failed to show any anti-diabetic effect in the ZSF1 diabetic rats. The reasons for this failure were briefly discussed.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 3-Year-Old Boy with Seizures(2021) Tatineni, Chandana; Nguyen, Alexander; Luke, RebeccaBackground: First described in 2007, Anti-NMDA Receptor Encephalitis is an autoimmune disease caused by immunoreactivity against the NR1/NR2 subunit of the NMDA receptor in the central nervous system. According to the California Encephalitis Project, Anti-NMDA was a more common presentation of encephalitis than viral causes. Case Presentation: A 3-year-old presents to the ER with a possible seizure and recent history of decreased language output and abnormal body stiffness with flexed arms and shaking movements that is prominent on the left side. His initial ER presentation shows signs of fever with unremarkable physical exam, labs and imaging. After no overnight seizures, he was discharged home. A week later, he developed mood lability and other behavioral changes. His second ER presentation shows lymphocytic pleocytosis and a brain MRI shows signs of cerebral inflammatory processes with bilateral non-specific hyperintense lesions. He was started on steroids and IVIG based on the suspicion of Anti-NMDA Receptor Encephalitis. On the 8th day, serum and CSF assays came back positive for the anti-NMDA Receptor antibodies. He continued to receive seizure medications to control his symptoms and was discharged 3 months later to in-patient rehab. Conclusion: This case presents a unique presentation of Anti-NMDA Receptor Encephalitis that was found in a young male instead of the typical tumor associated disease in a young female. This case study emphasizes the need to test for anti-NMDA Receptor antibodies when evaluating young patients with signs of encephalitis.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 Biological Approach in Exploring Breast Cancer Disparities(2021) Ali, Arkoon; Sankpal, UmeshPurpose: In the United States, healthcare disparities lie across a multitude of diseases including breast cancer. These disparities are caused by multiple different factors such as socioeconomic status, education, environment, biology, and others. To overcome the disparities, each factor needs to be addressed with research and development. In the US, breast cancer death rates have significantly declined since the start of 21st century. However, looking closer at breast cancer outcomes between races, a significant racial disparity is seen between white and black women. Research has found that black women are diagnosed with breast cancer at an earlier age and with the most aggressive triple negative tumors. These factors attribute to the differences in outcomes between the black and white populations. Studies have also identified various biological differences between the two populations that can potentially affect outcomes for breast cancer. Method: Genomic data from breast tumor was used to obtain differentially expressed genes between the two populations. These were evaluated as possible biological markers for racial disparity in breast cancer. Results: Genes were identified that were expressed at higher levels in tumor tissue from black women compared to white. This also correlated with the lower survival rates observed for black women. Conclusion: In addressing the disparities of healthcare and more specifically those seen in breast cancer, novel approaches are needed to reduce mortality and improve outcomes for the black population. These approaches need to include a combination of public health strategies along with biological methods and techniques to improve outcomes.Item A Cadaveric Investigation of the Long Thoracic Nerve(2021) Liu, Howe; Bradley, Libby; Quiben, Myla; Reeves, RustinIntroduction: Entrapment of the long thoracic nerve (LTN) is associated with pain in the thorax and back. Entrapment can occur at many places along the pathway of the LTN, including the cervical spine and the scalene muscles, which can make it hard to diagnose. The purpose of this study was to document the LTN's anatomy and measure the course it takes with regard to the serratus anterior muscle. Method: From 4 previously dissected, adult cadavers, 8 LTNs were documented regarding the nerve's anatomical route and muscular innervation. A transverse plane through the cricothyroid membrane was established and a t-pin was pierced into the nerve at that plane and measurements were taken using Vernier calipers. Results: The average length from the spinal origin of LTN to the insertion into the serratus anterior muscle was the width of 10.3 thumb interphalangeal joint (IPJ) on the right side and 9.75 IPJ on the left side. The average length from the origin to the cricothyroid membrane was 5.15 IPJ on the right side and 4.4 IPJ on the left side. The average length from the cricothyroid membrane to the serratus anterior insertion on the right side was 5.15 IPJ and 5.35 IPJ on the left side. Conclusion: Knowing the average lengths of the LTN can better help treat the entrapment with manual therapy, topical injections, or even surgery. The results will assist to help improve clinicians' ability to locate the site of LTN entrapment so appropriate management can be implemented.Item A case of acute appendicitis presenting with mild symptoms on a routine diabetes follow-up visit(2021) Shahub, Nur-Alhuda; Jackson, MasheikaBackground: Worldwide, acute appendicitis is one of the most common reasons for emergency abdominal surgeries; incidence is approximately 100 per 100,000 person-years. Presenting symptoms, such as abdominal pain and nausea, can resemble many other disorders and although rare, can be diagnosed incidentally during routine office visits for other complaints. Case Presentation: A 57-year old African-American female presented for a routine follow up visit for diabetes mellitus at an outpatient clinic. During the visit, the patient stated that she had been experiencing generalized abdominal pain (with nausea) that had later localized to the right lower quadrant. Vitals were within normal limits. Pain was described as waxing and waning and worse with movement. Physical exam revealed pain elicited on deep palpation of the right lower quadrant, maximal at McBurney's point, and the patient was advised to go to the emergency room due to suspicion of acute appendicitis. Workup at the emergency room revealed no leukocytosis, fever, or systemic inflammatory response syndrome. CT scan revealed a focal outpouching arising from the cecum due to possible appendiceal origin or diverticulum with surrounding inflammatory changes and an appendicolith concerning for inflammatory process, without associated fluid collections or free air. Emergency appendectomy was performed and patient made a full recovery. Conclusion: This case illustrates a unique presentation of acute appendicitis diagnosed incidentally at a routine outpatient visit for diabetes follow up, and emphasizes the unique role of primary care physicians in recognizing this disease even in well-appearing patients with mild symptoms.Item A Case of An Accessory Levator Scapulae Muscle(2021) Mong, Joy; Wagner, Lianne; Fisher, CaraBackground: The levator scapulae is a posterior axioappendicular muscle that attaches the upper limb to the vertebral column. It originates from C1-C4 transverse processes and inserts on the margin of the superomedial angle of the scapula. This case report documents a variation of the musculature in the levator scapulae with a unilateral accessory muscle inserting into the trapezius instead of the scapula. There have been some documented cases of anatomical variations of levator scapulae, however these variations were usually found to be of atypical origin or insertion. There have not been any documented cases of an accessory levator scapulae muscle belly matching the morphology noted here. The clinical implications of anatomical variants such as this one must be considered. Case Information: During a detailed cadaver dissection, a left unilateral accessory muscle of the levator scapulae was discovered. It originated just anterior to the bulk of the levator scapulae at the C2 level and inserted into the superior descending trapezius. This accessory levator scapulae measured 6.5 cm long and 0.5 cm wide. Conclusion: Knowledge of anatomical variants of levator scapulae is relevant to clinicians working in the fields of surgery, neurology, radiology and musculoskeletal medicine. This muscle is frequently implicated in the etiopathology of neck and shoulder pain and increased tension in levator scapulae has also been linked to increased cervicogenic headaches. Structural variations, such as this, may be a contributing factor to postural abnormalities leading to chronic myofascial pain and headaches.Item A Case of Fever of Unknown Origin in the Setting of an Uncommon Exposure History & Nonspecific Symptoms(2021) Tomasco, Olivia; Yen, Kyle; Desai, ShivaniBackground: This case of fever of unknown origin with a broad differential illustrates the potential for multiple diseases to co-occur. Case Presentation: A 46-year-old female with a past medical history of malaria and TB presented with cough, shortness of breath, cyclical fever up to 103°F, diffuse rash, BRBPR, joint pain, multiple liver nodules, night sweats, and 20-lb weight loss following travel to Burma 6 months prior. Physical exam revealed tachycardia with irregular rhythm and a holosystolic murmur, suprapubic tenderness, 2+ lower extremity edema, and scattered small, round pruritic, erythematous rashes throughout all 4 extremities. Several fungal, parasitic, viral, and bacterial infectious etiologies were considered. Labs were significant for the following etiologies: infectious- EBV DNA and Brucellosis, Bartonella Hensleae, Coccidioides, and hepatitis A antibodies; Malignancy- protein gap IgG 2x upper limit; Autoimmune- anti-dsDNA 1:640, CRP 9.7, protein:creatinine ratio 62.1 with decreased C3/C4, positive Coombs, positive ANA, elevated ACE-I levels, and anti-smooth muscle/anti-cardiolipin/anti-RNP/myeloperoxidase antibodies, leading to a broad autoimmune differential. Imaging showed multiple liver nodules, and liver biopsy revealed extramedullary hematopoiesis and diagnosis of stage III High Grade B Cell Lymphoma with CD20+, BCL-2+, Myc+, Ki67>90% cytology. Despite this diagnosis, there was clear concurrent autoimmune manifestation and the treatment team suspected rheumatologic etiology over malignancy prior to diagnosis. Conclusion: This unusual case shows how autoimmune and malignant symptomatology can co-occur, generating a clinical picture that is persistently nonspecific. This case also raises the question of how autoimmune disease can trigger malignancy.Item A Case of Treatment-Resistant Catamenial Disease: Insufficiency in Mainstay Treatment Options(2021) Faisal, Annum; Ratnani, Iqbal; Fatima, SaharIntroduction:Thoracic endometriosis syndrome (TES) is characterized by presence of ectopic endometrial tissue within the thoracic cavity, mainly the lung parenchyma and pleura. TES presents as catamenial pneumothorax (CP), catamenial hemothorax (CH), pulmonary nodules or hemoptysis. Hormonal therapy is considered first line treatment followed by operative thoracoscopy for removal of ectopic endometrial implants. Description:A 37-year-old G4P0040 female presented to the emergency department (ED) with worsening shortness of breath for 5 days. Associated symptoms included cough and right-sided chest pain localized to the lateral right mid-lower rib cage. Her past medical history is significant for hypertension, obesity, iron deficiency anemia, severe endometriosis and TES manifesting as recurrent, right sided pleural effusions, CPs and CHs requiring surgical treatment. Her current medications include leuprolide 11.25mg injection/30 days, norethindrone and ferrous sulfate daily. She appeared in distress with a BP of 166/102. Physical examination revealed tachypnea, accessory muscle usage, and respiratory distress. Chest x-ray and CT were consistent with findings for right tension hemothorax. CBC revealed Hb of 5.7g/dl. She was initially started on BiPAP and a tube thoracostomy was performed to place a chest tube. She was transfused 4 units pRBC and admitted to the ICU for further monitoring. Leuprolide was administered to prevent recurrence of hemothorax, and patient was discharged after resolution of symptoms confirmed by imaging. Conclusion:This unique case illustrates the insufficiency in surgical and hormonal mainstay treatments. Novel treatments and multidisciplinary team approach should be used in conjunction to effectively treat TES and prevent disease relapse.Item A Case Report of Multisystem Inflammatory Syndrome in Children Presenting as Typhus(2021) Mahajan, Anisha; Murray, Celeste; Murray, Tyler; Shahin, Dani; Espino, Lynette; Jalfon, Rachel; Anvaripour, NavidMultisystem Inflammatory Syndrome in Children (MIS-C) is described as a set of life-threatening clinical symptoms arising secondary to an inflammatory response triggered by SARS-CoV-2 infection, typically manifesting 25 days after initial symptom onset. Considerations for diagnosis include age < 21, fever, laboratory evidence of inflammation, and previous SARS-CoV-2 exposure or infection. MIS-C presents similarly to endemic or murine Typhus caused by Rickettsia typhi. Both pathologies present with Kawasaki's Disease-like features of fever, rash, conjunctivitis, and lymphadenopathy. Additional shared non-specific symptoms include headache, pharyngitis, abdominal pain, and diarrhea. Furthermore, they share similar inflammatory markers and laboratory values, including elevated ESR, elevated ALT, and anemia. Here, we report a case of MIS-C initially misdiagnosed as murine Typhus. A 15-year-old male presented with symptoms of murine Typhus to a hospital in an endemic region. Due to a positive Rickettsia panel, doxycycline was initiated to treat suspected murine Typhus. The patient did not improve, and additional differential diagnoses were considered. Clinical suspicion for MIS-C was heightened due to self-reported history of COVID-19 infection one month prior. Anti-inflammatory treatment with intravenous immune globulin, methylprednisolone, and anakinra was initiated to symptomatically treat MIS-C. This therapeutic regimen resulted in patient stabilization and discharge, thus corroborating diagnosis of MIS-C. Due to the shared clinical manifestations of murine Typhus and MIS-C secondary to COVID-19, we recommend MIS-C as a differential for a patient presenting with characteristic symptoms.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 Longitudinal Study Among Permanent Supportive Housing Residents: Increase in Social Support Co-Occurring with Decrease in Depressive Symptoms and Substance Use Problems(2021) Tan, Zhengqi; Mun, Eun-Young; Nguyen, Uyen-Sa; Walters, ScottPurpose: Social support is a well-known protective factor against depressive symptoms and substance use problems, but very few studies have examined its protective effects among residents of Permanent Supportive Housing (PSH), a housing program for people with a history of chronic homelessness. We examined whether perceived social support improves when provided with regular health coaching visits and whether improved social support is associated with reduced depressive symptoms and substance use problems among this underserved population. Methods:Participants were 653 adult PSH residents in North Texas (56% female; 57% Black; mean age: 51 years) who participated in a monthly health coaching program from 2014 to 2017. We assessed their health behaviors at baseline and three follow-up visits for up to 18 months. We used latent growth curve models to capture changes over time and parallel process growth models to examine the associations between the trajectories of social support and the trajectories of each health measure. Results:PSH residents showed improved social support, and decreased depressive symptoms and substance use problems over time. In addition, individuals with greater needs at baseline tended to improve faster, although their improvements slowed over time. Further, those who improved in social support tended to show reduced depressive symptoms (coefficient: –0.67, p< 0.01) and substance use problems (coefficient: –0.52, p< 0.01). Conclusions:This study suggests that increases in social support may positively impact depressive symptoms and substance use problems among PSH residents. Future housing programs could emphasize social support as an early component. Supported by Medicaid1115Waiver & R01AA019511.Item A Matter of Balance Fall Prevention Program Delivery to Underserved Populations(2021) Khan, Amal; Quach, Shanon; Rivera, Solymar; Severance, JenniferPurpose: Falls are the leading cause of injuries in older adults. A Matter of Balance (AMOB) is a national evidence-based fall prevention program. However, there is a lack of implementation to underserved populations. This study investigates the impact of cross-sector partnership delivery of AMOB on 1) access to serve underserved older adults in Tarrant County, Texas and 2) older adults' confidence in their ability to manage falls. Methods: Area Agency on Aging, Sixty and Better, University of North Texas Health Science Center, and Medstar collaborated to deliver AMOB in Tarrant County zip codes with the most emergency calls for falls in older adults. 354 older adults voluntarily participated and were surveyed for demographics and self-rated confidence in their ability to manage falls using the Falls Efficacy Scale (FES). Results: The average age was 78 ± 8.33 and most participants were female and white non-Hispanic. 49% of the programs were in hotspot zip codes and 31% of the participants were from hotspot zip codes. 53% of the participants completed the program and 48% of those who did not complete was due to COVID-19. Confidence in managing falls (t=-8.222, p< 0.001) increased significantly with program completion. Conclusions: AMOB was effective in increasing confidence in managing falls for individuals who completed the program. Using zip code data is helpful in planning outreach, but less than half of the participants were in the desired areas. To address access barriers, stakeholder groups that represent underserved communities should be included.Item A Non-Parametric Alternative to The Cochran-Armitage Trend Test in Genetic Case-Control Association Studies: The Two-sided Jonckheere's Test(2021) Manning, Sydney E.; Xing, Chao; Ku, Hung-Chih; Zhou, ZhengyangPurpose: In genetic association studies with case-control design, standard practice is to perform the Cochran-Armitage (CA) trend test under the assumption of additive genetic model. The CA trend test is a parametric statistical test, and under the null hypothesis of no association between the genetic variant and disease, the test statistic asymptotically follows a chi-square distribution with 1 degree-of-freedom. However, when the sample size and/or variant minor allele frequency are small, asymptotic properties may not hold, which can lead to reduced statistical power in detecting genetic associations. Methods: To improve statistical power in this case, we consider the two-sided Jonckheere's test, which is a rank-based nonparametric test. By not imposing assumptions on the distributions of the data, it is expected to have better statistical power than parametric tests for small sample sizes and/or rare variants. We conducted extensive simulations to compare the statistical power between the CA trend test and the two-sided Jonckheere's test under various scenarios. Results: We found for small sample size (e.g., n=200) and low minor allele frequency (e.g., p=0.05), the two-sided Jonckheere's test outpowered the CA trend test for all genetic models ranging from recessive to dominant. Conclusion: This finding provides an alternative to the CA trend test in genetic association studies under these circumstances. With higher statistical power from the two-sided Jonckheere's test, genetic epidemiologists will be able to detect more genetic associations for complex diseases, which may lead to better prevention and treatment strategies.Item A Presentation of a Rare Disorder: Hereditary Hemorrhagic Telangiectasia(2021) Kannan, Srijaa; Elmore, Stephanie; Smith, MichaelBackground: The purpose of this case study is to describe a presentation of a rare disorder called Hereditary Hemorrhagic Telangiectasia (HHT), also known as Osler-Weber-Rendu syndrome. HHT is a rare autosomal dominant disorder that leads to malformed blood vessels in various body organs. Patients may be asymptomatic or have a wide range of clinical manifestations, thus making diagnosis of this condition difficult. Case Information: A 53-year-old Caucasian female with a history of intermittent epistaxis and multiple family members with HHT presented for a well woman visit and was found to be anemic with an H&H of 10.2 and 32.9 respectively. She was referred for a bidirectional endoscopy and was found to have multiple telangiectasias and polyps in her stomach and duodenum, some treated with argon plasma coagulation (APC). Since then, she has seen an HHT specialist biannually to rule out brain, heart, and lung involvement. She has had multiple colonoscopies and endoscopies with treatment of telangiectasias and arteriovenous malformations (AVMs) with APC since then. In 2018, she was treated for a left lower lung AVM. She requires parenteral iron therapy for her anemia every 3 months. Clinically, this patient presented with recurrent nosebleeds and anemia; however, her family history indicated a strong likelihood of HHT. Conclusion: Here I discuss the clinical features of this particular presentation of HHT as well as diagnostic criteria, management, and treatment with hopes of creating awareness in the scientific and medical community about how to diagnose and manage this rare condition.Item A Rare Case of Pleural Metastasis from GIST(2021) Nguyen, Jacqueline; Das, Siddharth; Bhachawat, Neal; Siddiqui, UmarIntroduction: Gastrointestinal stromal tumors(GISTs) are rare mesenchymal tumors that originate in the gastrointestinal tract often characterized by the upregulated CD117(c-KIT) proto-oncogene.Histologically they can range from predominantly spindle-shaped(70%),epithelioid-in-character(20%),or a combination of both(10%).GISTs mainly metastasize to the liver(65%)or the peritoneum(21%), whereas metastasis to the lymph nodes(6%),bone(6%), or lung(2%) are significantly rarer.Here, we present a case of a rare metastasis to the lung pleura.Case:A 53-year-old Asian female with a history of type2 diabetes mellitus,hypertension,and hyperlipidemia initially presented to the ED with complaints of increasing shortness of breath.She received a chest x-ray which showed left sided pleural effusion with atelectasis and had a chest tube placed and pleural fluid tapped.She underwent a chest CT with contrast which revealed a left lower lobe mass;however, left lung biopsy showed benign pulmonary parenchyma.Following her visit to the ED,pathology results proved that the pleural effusion was a result of GIST metastasis to the pleura.TNM Staging was completed and was shown to be T4,N1,and cM1.The tumor was found to be C-KITpositive and also revealed an exon11 mutation.She was started on Imatinib after her initial diagnosis,but disease continued to progress the following year and she was switched to Sunitinib.She also underwent thoracotomy,partial pleurectomy,and pleurodesis which improved her breathing.Patient's current treatment plan is Sunitinib 25mg daily and continued follow up with oncology.Conclusion:Ultimately,this atypical presentation should encourage clinicians to consider GIST metastases as a potential diagnosis for patients with a history of recurrent pleural effusions without a known etiology or an epithelioid subtype pathology.Item A Review of Community-Based Interventions to Address Colorectal Cancer Health Disparities Among the Black Population(2021) Lim, KendrickFrom 1975 to 2016, 5-year relative survival rates for colorectal cancer have increased from 50% to 65%, largely due to the advent of novel therapeutic options that aid in prevention and treatment. However, the disproportionate gap in mortality rates has continued to exist among the white and black population. These health disparities and discrepancies have been well documented over the past several decades. The 5-year relative colorectal cancer survival rate for the white population has increased from 50% to 65% while that of the black population has increased from 45% to 59%. To close the disparity gap, community-based interventions have been implemented and studied with a focus on improving screening rates. While many studies have shown promising results, these studies are sparse, and a heavier emphasis on reducing these health disparities is warranted. In this review, community-based interventions for the black population over the past two decades were systematically evaluated for efficacy and reproducibility. A literature review was conducted to investigate different community-based health care interventions to assess the effect on cancer screening rates. On average, a positive increase in colorectal cancer screening rates was observed when community-based interventions were implemented. Thus, there is evidence supporting the use of community-based interventions to increase cancer screening rates in an effort to reduce the health disparities associated with colorectal cancer among the black population.