General Medicine
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Item A Comparison of Autism Spectrum Disorder (ASD) and a dual diagnosis of ASD + Developmental Coordination Disorder (DCD): A Case Study(2019-03-05) Kata, Karolina; Ganesh, Abhinaya; Mauk, Joyce; Bowman, Paul; Bailey, Laurie; Hamby, Tyler; Miller, Haylie; Chang, ShannonBackground: Autism Spectrum Disorder (ASD), Developmental Coordination Disorder (DCD), and the dual diagnosis of ASD+DCD often have longer diagnostic trajectories given the complexity of their symptom profiles and associated difficulty with differential diagnosis. While first concerns may originate from parents, schools, or medical professionals, it may take years of waiting and assessments to reach a final diagnosis. Patients with co-occurring disorders can undergo a lengthier process as symptoms of 1 disorder may mask symptoms of another and create confusions within a care team. By understanding differences in the lines of service visited, symptoms, and parent concerns exist for patients with and without a dual diagnosis, we aim to identify potential targets for improvement in the diagnostic process. Case Information: Patient 1 (ASD+DCD) is a Caucasian female who presented with first concerns at 2 years and reached an ASD diagnosis at 6.25 years and a DCD diagnosis at 2 years. She was recommended and utilized speech therapy (ST), occupational therapy (OT), and physical therapy (PT). She had 9 visits with professionals and was assessed with the Ages and Stages Questionnaire (ASQ), Modified Checklist for Autism in Toddlers (M-CHAT), and the Autism Diagnostic Observation Schedule (ADOS). Patient 2 (ASD) is a Hispanic male with first concerns at 2 years and reached a final diagnosis at 6.5 years. While he was recommended ST, OT, and PT, he only utilized ST. He had 10 visits with professionals before reaching his diagnosis and was assessed with the ASQ, ADOS, and Social Communication Questionnaire (SCQ). Both were first seen by Pediatrics and were given a final diagnosis at Child Study Center. Conclusions: The age when a reliable diagnosis for ASD or DCD can be made is 1.5 and 5 years, respectively. However, the average age of diagnosis for ASD or DCD is 4.9 and 7.8 years. While patient 1 reached her DCD diagnosis at 2 years, both patients received their ASD diagnoses later than average. Several factors, such as the physician’s knowledge, clinical resources, sex, socioeconomic status, cultural and language barriers, and co-occurrence with ADHD may play a role in explaining this delay in diagnosis.Item A Previously Unreported Combination of Mutations and its Unexpected Outcome in a Patient with Type 1a Rickets: A Case Study(2019-03-05) Swanson, Larry MD; Sridhar, SwathiBackground: Type 1a rickets is a rare autosomal recessive condition in which the enzyme 1-alpha-hydroxylase is not fully active. The result of this mutated enzyme is the inability to convert vitamin D from 25-hydroxyvitamin D to its active form, 1,25-dihydroxyvitamin D. This form of rickets classically presents with low 1,25 (OH)2 vitamin D, hypocalcemia, elevated parathyroid hormone (PTH), and distinct radiographic findings such as bowing of the legs and widening of the growth plates1,2. There are a number of mutations of the CYPB27B1 gene that are known to cause impaired enzymatic activity. Individuals with homozygous and compound heterozygous mutations have been described. Correlations between specific mutations and varying degrees of enzymatic impairment have been made. Case Information: A 14-year-old male was referred to endocrinology after experiencing a pathologic femur fracture. His mobility was severely limited secondary to bowing of his legs and pain with weight bearing. He was 48.4” tall (z = -4.8). He had pronounced bowing of his extremities and wide wrists. Labwork revealed the following: serum Ca 6.3 mg/dL, serum Phos 4.4 mg/dL, PTH 265 pg/mL, 25-hydroxyvitamin D 29 ng/mL, and 1,25 (OH)2 vitamin D 33 pg/mL (19-83). He was then admitted to the inpatient endocrine service and treated with oral and IV calcium, ergocaliciferol, and calcitriol. Later, whole exome sequencing revealed compound heterozygous variants of the CYP27B1 gene: c1319_1325dupCCCACCC (p.P443fs) and c.1226C [greater than] T (p.T409l). The normal level of 1,25-(OH)2 vitamin D concentration was surprising, given that both of the mutations in this patient were previously believed to cause complete enzymatic inactivity. The P443fs variant has been found in combination with other mutations, resulting in phenotypic variability3. The T409l variant appears less frequently in the literature, but is also believed to cause complete enzymatic inactivity. The P443fs and T409l mutations, however, have not previously been described together. Conclusion: The normal 1,25 (OH)2 vitamin D concentration in this patient suggests that at least one of these two CYP27B1 variants does not universally cause complete enzymatic inactivity, which is a departure from the current evidence base. Further use of genetic testing in Type 1a Rickets may result in improved understanding of the connection between genotype and phenotype in this rare condition.Item Assessing the Relation Between Weight Status and Sleep Status in 18-24 year old Females(2019-03-05) Benner, Ryan; Hartos, Jessica; Avila, Audrey; Herrera-Vazquez, DaisyPurpose: Obesity and sleep deprivation are prevalent within the United States. The purpose of this study was to determine whether weight status differs by sleep duration in 18-24 year old females. Methods: This sample includes women age 18-24 years old in Louisiana (N=100), Mississippi (N=118), and Texas (N=215). Descriptive statistics for each category by state and multiple logistic regression for each category by combined states were used for analysis using StataIC 15.1. Cross sectional analysis was performed using data obtained from the 2016 Behavioral Risk Factor Surveillance System conducted by the Center for Disease Control and Prevention. Results: Results indicated that approximately 40% of participants were either overweight or obese and approximately 20% had either long or short sleep duration. BMI was not significantly related to sleep duration in participants; however, physical activity was inversely related to weight status. Conclusion: The purpose of this study was to determine whether weight status differed by sleep duration in 18-24 year olds and it was found that there was no significant relation in this demographic. Results did, however, find that physical activity was highly related to weight status. Thus, in primary care practice, women age 18-24 with a higher BMI should be screened for their physical activity level. Those who do not participate in physical activity should be encouraged to participate, and possibly be referred to physical therapy to find appropriate exercises.Item Bilateral Pulmonary Embolism as Initial Presentation of Invasive Adenocarcinoma of the Colon(2019-03-05) Burgess, Lauren; Salas, Gabriel; Subramaniam, Smita; Gnasigamany, JasonBackground:Venous thromboembolism (VTE) is a frequently encountered diagnosis, and there are numerous genetic and acquired risk factors for this affliction. Thromboembolism due to hypercoagulability in cancer is well-known, and it is a common cause of death in these patients. Thrombosis represents the second most frequent cause of death in cancer patients, and cancer accounts for almost 20% of all VTE events. The highest incidence of VTE is in mucin-producing pancreatic, lung, and ovarian carcinomas. Although pulmonary embolism (PE) incidence in colon cancer is not as high as other malignancies, VTE may reflect more aggressive cancer and is a predictor of death within one year of diagnosis. In this report, we present a patient with syncope and anemia, a common scenario which uncovered the diagnosis of PE and subsequently colon adenocarcinoma. Case Information:A 43-year-old male presented with syncope, and had experienced fatigue, chest pain and dyspnea for a week. Aside from hypertension, there is no significant history. Vitals showed tachycardia, tachypnea and decreased oxygen saturation. Physical exam was unremarkable, and labs revealed severe microcytic anemia and a BNP of 2,285 ( Conclusions:Cancer patients treated with anticoagulation have lower mortality, and guidelines recommend low-molecular-weight heparin (LMWH) for cancer-associated thromboembolism. However, new evidence suggests that direct oral anticoagulants (DOACs) are reasonable alternatives. For our patient, we decided to give Apixaban for its ease of use over LMWH, and recent approval of DOACs is increasing the confidence regarding their safety. The unique aspects of this case involving anemia and bleeding risk with the need for anticoagulation raise the awareness of the varied co-existing disorders that can impact the diagnosis and treatment of cancer patients.Item CLINICAL IMPLICATIONS OF ACCESSORY RENAL ARTERIES: A CASE REPORT(2019-03-05) Nguyen, David; Lee, Janet; Kichena, Sanketh; Nwachukwu, Dexter; Kway, Kristi; Lammers, Cara; Mirochnitchenko, Alissa; Fisher, Cara; Vo, RussellThe kidneys are paired retroperitoneal organs that receive 20-25% of cardiac output and function in the filtration of blood and maintenance of homeostasis. In 70% of the population, each kidney is perfused by a single renal artery that branches off the abdominal aorta at L1-2 vertebrae. This leaves 30% of individuals with either accessory or aberrant renal arteries. (1) Accessory renal arteries are auxiliary to the main renal artery and both travel together through the hilum to perfuse the kidney. Meanwhile aberrant renal arteries are the sole source of kidney perfusion and typically branch directly from the abdominal aorta, entering the kidney outside of the hilum. (2) During a routine dissection of an 82-year-old female cadaver, a unilateral accessory renal artery was identified on the right side. This accessory artery was identified entering the inferior pole of the right kidney, branching directly from the anterolateral aspect of the abdominal aorta prior to its bifurcation. This accessory artery passed under the ureter and gonadal vessels. Accessory renal arteries and renal stenosis both produce similar symptoms and effects including systemic hypertension and hydronephrosis of the implicated kidney. (3) It is pertinent that these vascular anomalies be identified prior to medical procedures and surgeries such that adequate perfusion is maintained to prevent ischemia and kidney loss. Methods to identify accessory or aberrant renal arteries prior to surgical approaches, radiological interventions, and kidney transplants must be considered to prevent or mitigate the risk of complications.Item Constrictive Pericarditis: When Horses Become Zebras(2019-03-05) TERHARK, MATTHEWBackground: Disease of the pericardium can be broken down into 3 pericardial compressive syndromes. Of particular interest involving the following case is that of constrictive pericarditis. This disease process is typically secondary to loss of the normal elasticity of the pericardial sac. Precipitating factors for loss of physiologic elasticity of the pericardial sac include idiopathic, viral, connective tissue disorders, iatrogenic neoplastic processes. Case information: A 57yo male presented to PCP with upper respiratory symptoms, treated with antibiotics, failed to follow up with PCP initially. Continued to experience worsening shortness of breath, was referred to pulmonology who identified significant right sided infiltrate on chest x-ray. Patient directed to our facility where chest tube was placed and TPA administered for loculated pleural effusion. Patient required pressor support following administration and echocardiogram was obtained revealing pericardial calcifications. Patient underwent left heart catheterization followed by staged pericardiectomy then right sided thoracotomy. Patient tolerated procedure well and underwent an uncomplicated postoperative course. Conclusions: While the symptoms of upper respiratory infection often lead to a benign outcome the potential for adverse disease sequelae is broad. In this particular case the patients likely viral URI likely lead to the subsequent diagnosis of constrictive pericarditis. In order to prevent permanent and likely progressive symptoms as seen with constrictive pericarditis the patient underwent a pericardectomy within a week of identification. The patient tolerated this procedure well and had complete resolution of constrictive pericarditis symptoms. In general, Patients experiencing constrictive pericarditis typically present with symptoms related to fluid overload (i.e.-edema, ascites) owing to a diminished cardiac output. As seen with this patient, treatment often involves pericardiectomy otherwise patients are often left with permanent and progressive symptoms.Item Depersonalization Disorder Following Medication Withdrawal(2019-03-05) Nguyen, Huan; Ripley, ZacharyBackground: Migraine headaches affects nearly 15% or roughly one billion people worldwide and are more common in women. Annually our country spends $78 billion on medical costs (both preventative and abortive) and lost wages. Symptoms can diminish quality of life and often last for several hours and even days. This case follows a 29-year-old Caucasian female with past medical history of migraine headaches that was admitted to the hospital for depersonalization secondary to Topamax withdrawals. Case information: A 29-year-old Caucasian female with a past medical history of migraine diagnosed many years ago who was admitted to the hospital with the complaint of confusion, unsteady gait, drowsiness and a feeling of being “disconnected from my body. Upon questioning, the patient takes propranolol 20 mg/day and Topamax 100 mg/day for migraine prophylaxis, but that she was forced to discontinue her Topamax 2 weeks prior due to change in her health insurance. She was diagnosed with depersonalization due to Topamax withdrawal. Topamax was restarted and her mentation returned to baseline. The patient was discharged from the hospital in stable condition. Conclusions: The goals of migraine preventive therapy include; reducing frequency, severity, and duration, improving responsiveness to treatment of acute attacks, improving function, and preventing progression of episodic to chronic occurrences. Treatment options should be individualized. In 2004, the Food and Drug Administration approved Topamax for the prevention of migraine in adult. Topamax is associated with various psychiatric and neurocognitive side effects and withdrawal symptoms secondary to abrupt discontinuation. Depersonalization is a period of feeling disconnected or detached from one’s body and thought while maintaining reality. The disorder belongs to a group of disorders called dissociative disorders. Depersonalization disorder can be precipitated by trauma, seizures, substance abuse, and medication withdrawal.Item Does Alcohol Use Increase the Risk for Obesity in Middle Aged Males?(2019-03-05) Amir, Rija; Alford, Hailey; Mohan, Sonya; Hartos, Jessica; Mathew, MerinPurpose: Alcohol misuse is a serious public health issue within the general population, but there are conflicting findings regarding its relationship to obesity. The purpose of this study was to determine whether alcohol use increases the risk for obesity in middle aged males in the general population. Methods: This cross sectional analysis used 2016 Behavioral Risk Factor Surveillance System (BRFSS) data for males ages 45 to 64 from Maine (N=1,667), North Dakota (N=1,060), South Carolina (N=1,669), and Wisconsin (N=998). Multiple logistic regression analyses conducted by state were utilized to examine the relationship between alcohol use and obesity while controlling for health related and demographic factors. Results: Across states, about one third of the sample was obese (35-38%) and about half to two thirds reported alcohol use (55-69%). Adjusted results indicated that weight status was inversely related to excessive alcohol use in three of four states. In addition, weight status was positively related to health conditions while inversely related to physical activity and tobacco use. Conclusions: Overall, alcohol use was inversely related to obesity in representative samples of 45-64 year old males. As there is likely low to moderate prevalence of both obesity and alcohol use in middle aged males, it is recommended that providers screen for obesity and alcohol use separately. Adequate nutrition should be evaluated in individuals with excessive alcohol use and referrals to addiction specialists should be made as needed. In addition, there may be moderate to high prevalence of smoking, physical activity, and more than two health conditions, and these may be moderately related to obesity. Providers should screen middle aged males for smoking and physical activity during all visits and specifically screen for health conditions in individuals with an obese weight status as these were directly related. In addition, encouragement and education should be provided on the benefits of exercise and referrals to a fitness instructor or dietician should be provided as needed.Item Does Tobacco Use Differ by Metropolitan Status in Young Adults Ages 18-24?(2019-03-05) McMahon, Meghan; Morgan, Mary; O'Rourke, Valerie; Hartos, Jessica; Mankus, KatherinePurpose: Prior research shows conflicting findings for the relationship between tobacco use and metropolitan status. The purpose of this study is to determine whether tobacco use, including smoking and chewing tobacco, differs by metropolitan status among young adults ages 18-34 years old. Methods: This is a cross sectional analysis using 2016 BRFSS data for Florida (N=752), Michigan (N=182), New York (N=1112), and Washington (N=285). Ordered logistic regression was performed for combined state data to assess patterns in relationships between tobacco use and metropolitan status while controlling for demographic and socioeconomic factors, health status, and alcohol use. Results: Across states, most people reported no tobacco use (77%), about one-fifth reported only smoking tobacco (19%), and very few people reported only chewing tobacco (3%) or both chewing and smoking tobacco (2%). For metropolitan status, about one-quarter reported living in a urban area (26%) and about one-third reported living in a suburban area (39%) or rural area (34%). The results of the adjusted analysis indicated that each successive level of tobacco use was moderately related to living in a rural or suburban area and highly related to alcohol use. Conclusion: The results of this study indicate that each successive level of tobacco use is moderately related to living in a suburban and rural area, compared to living in an urban area, and to alcohol use in young adults ages 18-34 years old. For primary care providers, it is recommended to screen for tobacco and alcohol use in all young adults, especially those living in rural and suburban communities. Clinicians should provide education for substance use and resources for substance abuse programs as needed.Item Gender Differences in Chronic Low Back Pain Perception and Chosen Treatment Modalities(2019-03-05) Licciardone, John C.; Hammack, LillyBackground: Differences in perceptions and reported levels of pain intensity between men and women are poorly understood. Current evidence indicates an increased prevalence of chronic pain syndromes in women. However, relationships among gender, reported pain and related clinical outcomes, and pain treatment modalities have not been adequately studied. Purpose: The purpose of this research was to examine differences between men and women in pain intensity and its clinical impact, including differences in pain treatment modalities according to gender. Hypotheses: Women are more likely to report higher levels of pain intensity than men, and thereby also experience greater back-related disability and poorer quality of life. Women are more likely to use non-pharmacological approaches to manage pain in addition to, or in place of, opioids and nonsteroidal anti-inflammatory agents (NSAIDs). Methods: 452 patients aged 21 to 79 years with chronic low back pain were selected from the Pain Registry for Epidemiological, Clinical, and Interventional Studies and Innovation (PRECISION Pain Research Registry). Patient data at registry enrollment included sociodemographic and clinical characteristics, including pharmacological and non-pharmacological treatments used. Clinical status measures included a numerical rating scale for pain intensity (NRS), the Roland-Morris Disability Questionnaire (RMDQ), and quality of life deficits on the SPADE cluster (sleep disturbance, pain interference with activities, anxiety, depression, and low energy/fatigue). Contingency table methods and t-tests were used for analysis. Results: No statistically significant differences between genders with respect to NRS, RMDQ, and SPADE scores (p= 0.75, 0.27, and 0.23, respectively). A statistically significant relationship was observed between females and NSAID usage (p=0.03). However, no significant relationships were observed between gender and use of opioids or other non-pharmacological pain treatment modalities. Conclusions: Women were not more likely to report higher levels of pain, nor to report higher levels of pain-related disability or quality of life deficits. Women were more likely than men to use NSAIDs for their low back pain, but were not more likely to use opioid therapy or other non-pharmacological pain treatment modalities. Further research is needed to determine what other factors might play into women using NSAIDs more frequently.Item Investigating the Interaction Between Self-Reported Measures of Pain and COMT and BDNF Polymorphisms in the Setting of Chronic Low Back Pain(2019-03-05) Licciardone, John C.; Phillips, Nicole R.; Burney, MaryamPURPOSE Chronic low back pain (CLBP) is now the leading cause of disability worldwide and is the second most common reason for health care visits. The etiology of CLBP is multifactorial, from molecular to psychosocial factors. Single genetic polymorphisms (SNPs) of catechol-o-methyltransferase (COMT) and brain derived neurotrophic factor (BDNF) have been shown to moderate pain outcomes. Also, certain cognitive responses of pain have been shown to amplify pain intensity. Current literature lends support to the predictive value of a bio-psychosocial model on pain outcomes. Thus, it is hypothesized that cognitive pain responses and COMT and BDNF SNPs interact to modulate pain outcomes. METHODS: This cross-sectional study included 424 subjects with CLBP. Subjects provided biological samples for analysis and completed cognitive measures of pain, the pain self-efficacy (PSE) and pain catastrophizing (PCS). A one-way ANOVA was run for rs4680 (COMTVal158Met) and rs6265 (BDNFVal66Met) using the Numerical Rating Scale (NRS), PCS and PSE as phenotypes. LSD post hoc analyses were completed for the rs4680 and r56263 genotypes that showed a statistically significant difference (p RESULTS: One-way ANOVA showed a statistically significant difference in the rs4680 genotypes and NRS pain outcomes (p=0.03). A LSD post hoc analysis of rs4680 revealed that the AG group (p=0.017) had lower pain outcomes compared to the AA group. The one-way ANOVA did not present a relationship between rs6265 genotypes and pain outcomes (p=0.40). Neither pain catastrophizing nor self-efficacy were associated with rs4680 and rs6265. CONCLUSIONS: Results indicate that pain outcomes in rs4680 AG heterozygotes are statistically reduced when compared to AA homozygotes. Thus, the AG genotype of rs4680 could be a significant predictor of pain outcomes in the setting of CLBP.Item Is Sleep Duration Related to Weight Status in Young Adults With Asthma?(2019-03-05) Esbayhat, Leanne; Graham, Dylan; Ruggiano, April; Hartos, Jessica; Parupia, IqraPurpose. Sleep duration and weight status have been found to be related in prior studies in healthy populations; however, there are conflicting findings and limited research for young adults with asthma. The purpose of this study was to determine whether sleep duration is related to weight status in young adults with asthma. Methods. This cross-sectional analysis used 2016 data from the BRFSS for males (N=116) and females (N=212) ages 18-34 years with asthma in Alaska, Arizona, Arkansas, and Maine. The relationship between sleep duration and weight status was assessed by gender with combined state data using multiple logistic regression analysis while controlling for mental and physical health, physical activity, alcohol and tobacco use, ethnicity, age, income level, educational level, employment status, and state. Results. Across states, the majority of male and female participants with asthma reported being overweight or obese (57-59%) and a relatively low amount reported averaging more than 8 hours of sleep (7-11%). The results of adjusted analysis indicated that male participants who averaged more than 8 hours of sleep per night were less likely to be overweight or obese compared to those who averaged 6-8 hours per night. Weight status was not related to sleep in females. Conclusions. After assessing the relationship between sleep duration and weight status in young adults with asthma, results indicated that males who slept more than 8 hours per night were less likely to be overweight or obese. Primary care clinicians might expect to find a moderate prevalence of obesity and a low prevalence of a sleep duration of more than 8 hours in males and females with asthma. If young adult males with asthma have symptoms of either obesity or short sleep duration, providers should screen for both and provide education and treatment. There was no significant relationship in females.Item Is Sleep Related to Mental Health in Middle Aged Males & Females?(2019-03-05) Roman, Madison; Thornhill, Kayla; Callahan, Jamie; Hartos, Jessica; Reynolds, Julia; Rozell, LauraPurpose: Studies have related sleep disturbances and mental health disorders, but not sleep duration and current general mental health. Therefore, this study aims to determine whether sleep duration is related to current general mental health in middle aged males and females in the general population. Methods: This cross-sectional analysis used 2016 BRFSS data for males and females ages 35 to 54 in Alabama (N=2000), Arkansas (N=1118), Kentucky (N=2890), Oregon (N=1578), and West Virginia (N=2087). Ordered logistic regression analysis was conducted separately by state and gender to assess the relationship between sleep duration and mental health while controlling for health-related and demographic factors. Results: About one-third to one-half of male and female participants reported low to moderate mental health (31-51%) and less than one-fourth reported short sleep duration (11-21%). Mental health was significantly related to sleep and health conditions for both genders as well as to smoking status, alcohol use, and physical activity for females. Conclusion: Mental health was related to sleep duration and health conditions for both genders. Therefore, clinicians should screen for mental health status, sleep issues, and health conditions if symptoms of any present. For females, mental health is also related to smoking status, alcohol use, and physical activity, so clinicians should screen for all if symptoms of any present. Clinicians should address each of these factors concurrently with mental health.Item Is Weight Status Related to Mental Health Status in Young Adult Females?(2019-03-05) Etzel, Amelia; Lau, Emily; Vertin, Gloria; Hartos, Jessica; Enzor, AlexandraPurpose: The aim of this study was to assess the relationship between weight status and mental health status in young adult females given limited research regarding the relation between these variables in this target population. Methods: This cross-sectional analysis used 2016 BRFSS data for young adult females ages 18-34 from Alabama (N=636), Kentucky (N=751), Louisiana (N=303), and Mississippi (N=441). Ordered logistic regression was conducted separately by state to assess the relationship between mental health status and weight status while controlling for general health status, physical activity, sleep duration, substance use, income level, education, employment status, age, and ethnicity/race. Results: About half of young adult females reported low or moderate mental health status (43-54%) in the last month, and the majority reported being overweight (26-32%) or obese (29-38%). The results of this study indicated that mental health was not significantly related to weight status in 3 out of 4 states after controlling for health-related factors, substance use, socioeconomic factors, and demographic factors. However, mental health was positively related to general health status, and inversely related to sleep and age in all four states. Conclusion: Overall, in females ages 18-34, there was a moderate prevalence of low or moderate mental health status and a high prevalence of overweight or obese weight status, but mental health status was not significantly related to weight status. Therefore, primary care practitioners should screen all patients for both but treat separately. However, mental health was positively related to general health and inversely related to sleep duration and ages 18-24. As these are significantly related, primary care practitioners should screen for all and treat concurrently. Practitioners should educate patients on improving general health status and on the importance of getting six or more hours of sleep each night, and provide referrals as necessary.Item Lance-Adams Syndrome: A Case Study(2019-03-05) Campbell, Brittney; Alles, Harsha; Dhanabalsamy, Nisha; Simon, Joe; Wilson, RobertAbstract Background: Lance-Adams syndrome (LAS) is a rare condition caused by brain hypoxia commonly due to respiratory arrest leading to chronic uncontrollable myoclonus. The myoclonus usually develops weeks to months following respiratory arrest and successful cardiopulmonary resuscitation (CPR). LAS is a rare clinical entity with as few as 150 cases reported in the medical literature. Anesthetic and surgical accidents account for the majority of respiratory arrest incidents in LAS cases. However, other inciting events include cardiac arrest, drug overdose, and suicide attempts. We present a case of a 59-year-old male who developed LAS months following cardiac arrest secondary to an anomalous cardiac artery and successful CPR. Case information: A 59-year-old male with a past medical history of anoxic brain injury secondary to cardiac arrest, congestive heart failure, cerebral vascular accident with residual left sided weakness, and seizure disorder presented to the emergency department with generalized myoclonus, despite the use of levetiracetam 500mg twice daily. After an extensive series of imaging studies and lab work neurology was consulted due to the increasing complexity of the case. Upon neurology recommendation levetiracetam was increased to 1000mg twice daily, without clinical improvement. At this time, due to the lack of MRI, CT, and EEG findings it was determined by neurology that the patient was experiencing symptoms concurrent with LAS. The diagnosis of LAS was most likely, considering the patients history of anoxic brain injury caused by cardiac arrest just 6 months prior with successful cardiopulmonary resuscitation. Neurology stopped levetiracetam and switched to valproate at a one-time dose of 500mg. The patient had complete remission of the post-hypoxic myoclonus and eventually discharged on valproate 500mg twice daily. Conclusion: In concordance with other cases of Lance-Adams Syndrome (LAS) which have been documented, this patient experienced a cerebral hypoxic event prior to the development of his myoclonus. As noted by several other authors’ presentations of LAS, this patient also did not exhibit any acute imaging findings on CT or MRI of the brain, further supporting the the lack of pathognomonic imaging findings for LAS. Of note, though unresponsive to levetiracetam, this patient’s myoclonus resolved completely with valproic acid, further validating its consideration as the first-line treatment in patients suffering from LAS.Item Medial periarticular clavicle fracture repair using inverted distal clavicle plate and sternal fixation: a case study(2019-03-05) Barcak, Eric; Schultz, MatthewBackground: Fractures of the medial third of the clavicle are rare, comprising less than 3% of all clavicle fractures. Available studies regarding medial clavicle fractures report frequent poor outcomes with traditionally-accepted nonoperative management, especially in cases of complete displacement. The medial periarticular clavicle fracture presents a distinct therapeutic challenge as the medial fragment may be too small for adequate screw fixation. We report a favorable outcome following surgical repair of a fully displaced medial periarticular clavicle fracture using an inverted distal clavicle plate and sternal fixation. Case information: A 29-year-old male presented with left shoulder pain and visible deformity along the left medial clavicle following a motor vehicle collision. Radiographs demonstrated a medial clavicle fracture with greater than 100% displacement and shortening of approximately 2 cm. The surgeon opted to perform open reduction and internal fixation due to significant displacement, shortening and cosmetic deformity. Upon reduction, it was determined that the medial fracture fragment was too small for adequate screw fixation. Instead, a distal clavicle plate normally used for the right shoulder was inverted, placed along the fracture site, and utilized to obtain multiple fixation points in the clavicle and sternum. Final imaging showed adequate fracture reduction and restoration of shoulder length. The patient was placed in a shoulder immobilizer and later discharged with instructions for physical therapy. His plate was removed 6 months after surgery. 8 months after surgery, the patient had full range of motion, strength comparable to the contralateral side, and returned to work without complication. Conclusions: This case describes the unique surgical repair of a medial periarticular clavicle fracture. Traditional management of this injury has been nonoperative, but available literature reports frequent unsatisfactory results, including symptomatic non-union and continued pain. Despite the severity of this case, the patient accomplished a full recovery with no complications. The findings of this case study support surgical intervention for displaced medial periarticular clavicle fractures and suggests that fixation to the sternum is appropriate in cases where the medial fracture fragment is too small for adequate screw fixation.Item Nontypical presentation of scurvy in a previously healthy child without risk factors(2019-03-05) Perez, Maria; Destin, GiovannyBackground: Scurvy has been reported to be the cause of death for about two million sailors between 1500 to 1700 AD. It is a disease caused by a prolonged deficiency in Vitamin C. It is an especially rare disease in children in developed countries. It often presents with irritability, failure to thrive, muscle/joint pain, and mucocutaneous features in infants and older children. A modern interest in the subject has risen due to an increase in reports of the disease in recent years. These cases are often of children with underlying medical conditions. Very few cases have been reported in otherwise healthy children. We report a rare case of scurvy in a previously healthy 3-year-old patient from a middle-class family who presented without mucosal bleeding or odd dietary habits. Case information: A previously healthy 3-year-old male presented to rheumatology clinic for evaluation of a limp. He had no prior hospitalizations or surgeries, and had no chronic medical problems. Mom reported a development of a nonspecific limp and a refusal to jump that began three months prior to presentation. Physical exam revealed full range of motion of all joints without swelling or tenderness. He had no epistaxis, gingival bleeding, or petechiae. Patient had extensive workup done to rule out malignancies and autoimmune disorders. Post-streptococcal glomerulonephritis, inflammatory arthropathy, axial spondyloarthropathy, leukemia, and chronic recurrent multifocal osteomyelitis were all considered during the workup for this patient due to the atypical patient presentation and nonspecific lab findings. The x-ray of the leg showed some stress fractures which raised concerns for possible vitamin deficiency. Labs showed low vitamin D levels and Vitamin C levels. A diagnosis of scurvy was made. Patient was placed on vitamin C and D supplements with rapid improvement in his condition. Conclusion: Scurvy can have a vague presentation and can often mimic other diseases such as malignancies, osteomyelitis, septic arthritis, rheumatologic conditions, and bleeding disorders. Because of its rarity in America, a nontypical case can make it very challenging to derive this diagnosis. Although cases of scurvy in patients without underlying medical conditions have been reported, the lack of gingival and skin findings and odd nutritional habits make this a very rare and unusual case.Item Radiofrequency ablation (RFA) for the treatment of refractory gastric antral vascular ectasia: a systematic review and meta-analysis(2019-03-05) Komandur, Thrupthi; Shah, Usman; Turab, Mohammed; Patil, Pritvhi; Thosani, Nirav; Salim, HamzaAbstract Purpose: Gastric antral vascular ectasia (GAVE) is an uncommon cause of upper GI bleeding characterized by mucosal and submucosal vascular ectasia that commonly manifests as occult bleeding and chronic anemia. Argon Plasma Coagulation (APC) is frequently used as initial treatment for symptomatic GAVE. APC often requires multiple endoscopies and patients may not have full resolution of symptoms. Radiofrequency ablation (RFA) has emerged as a successful alternative. This study aims to conduct a systematic review and meta-analysis to evaluate the safety and efficacy of RFA in the treatment of GAVE. Methods: A comprehensive search of Pubmed, EMBASE, and Web of Science databases was performed, which focused on reviewing titles/abstracts, choosing relevant studies, and conducting necessary data extrapolation. This search was done on literature from 2008 up until June 2018 and studies with less than 5 patients were excluded. The measured parameters included improved hemoglobin levels, transfusion dependence, RFA treatment modality, adverse events, and number of RFA treatments. Results: We identified a total of 8 studies (N=128 patients) that used RFA for refractory GAVE. The HALO-90 or HALO-ULTRA ablation catheter (Covidien, GI Solutions, Sunnyvale, CA, USA), with a power capacity of 10-15 J/cm2, were the treatment modalities used. The overall clinical success rate for RFA in treatment for refractory GAVE was 68% (59%-76%, I2 value for heterogeneity 0). Average pre-treatment Hb value increased significantly from 8.03 (6.88-9.18, I2 94) to 10.38 (9.49-11.27, I2 77) after the RFA treatment. This difference was statistically significant: Standardize difference in mean 1.92 (0.50-3.35, p Conclusions: RFA can be an effective alternative in treatment for GAVE refractory to APC. While long-term data is limited, the evidence shows improved Hemoglobin levels and decreased transfusion dependence in treated patients. Further controlled trials are needed to compare the long-term safety, efficacy, and cost-effectiveness between RFA and APC in the treatment of GAVE and CRP.Item Rapidly Progressive Glomerulonephritis in an Otherwise Healthy Elderly Female(2019-03-05) Vu, MichaelBackground: Rapidly progressive glomerulonephritis describes a clinical syndrome that is characterized by a rapid loss of renal function in a relatively short period of time, ranging from days to months, that can ultimately lead to complete renal failure. The histologic hallmark of RPGN presents as proliferating crescents found within the kidney glomeruli which are induced by inflammatory cytokines and made of fibrin, cellular components, and differentiating antibodies. RPGN can present as a wide variety of symptoms associated with severe acute kidney injury such as uremia, gross hematuria, edema, fatigue, hypertension, and oliguria. Case Information: A 73-year-old female with a past medical history of well-controlled hypertension, hyperlipidemia, and type 2 diabetes mellitus along with chronic kidney disease stage 3 and chronic heart failure with preserved ejection fraction (50-55%) presented after a ground level fall at home. Traumatic injury or loss of consciousness could not be ruled out. Reported symptoms included shortness of breath, oliguria, and generalized weakness. With extensive workup and evaluation, patient exhibited markedly elevated creatinine from baseline, elevated inflammatory markers, fractional sodium excretion indicative of intra-renal disease, crescent formation on renal biopsy, and blood work positive for cytoplasmic anti-neutrophil cytoplasmic and myeloperoxidase antibodies. Treatment was initiated with aggressive steroid therapy, therapeutic plasmapheresis, and immunosuppressant therapy with Rituximab. Conclusions: If left untreated, RPGN can be a severe syndrome that can lead to end-stage renal failure, subsequent infection, and/or massive pulmonary hemorrhage. Hallmark of treatment is centered around high-dose steroid therapy and immunosuppression. Expectations of said treatment are focused on decreasing the degree of irreversible renal injury rather than complete remission. Outcomes remain largely dependent of time of diagnosis or clinical suspicion. Even though clear diagnostic findings are outlined along with treatment guidelines, a large deal remains to be discovered regarding definitive pharmacologic options. Treatment plans should include extension discussion with the patient and family remembers regarding quality of life, side-effects and burden of aggressive immunosuppressive therapy, and degree of irreversible renal damage.Item Rectal perforation injury following high pressure water penetrating trauma: a case report(2019-03-05) Dillard, Robert; Kim, Elizabeth MDAbstract Background: Injuries to the rectum and perineal regions secondary to jet-ski and watercraft vessels are uncommon and unique, presenting a potentially complicated clinical scenario. While this injury pattern has been described before, severity, intervention and hospital course has varied among cases¹. Additional descriptions of these trauma types may be necessary to establish a standardized approach to the treatment of such injuries. Case information: The patient is a 16-year-old female with a past medical history of asthma that was a transfer from an outside medical facility. She presented following a trauma sustained after falling off a jet-ski. She reports being the third individual seated at the rear of the watercraft when the wake created by another vessel caused her to be thrown from the back. She states that she fell backwards onto the water being propelled from the back of the jet-ski and felt a sudden sharp burst of pain. She described her pain as moderate, located in the lower pelvis, radiating to her abdomen and back. The patient was brought to an outside hospital where she was found to have several small lacerations in the perianal region and rectal bleeding. On presentation to our institution approximately 8 hours after injury, she was neurologically intact (GCS 15), blood pressure 128/73, heart rate 120s, febrile 101.5F. Primary trauma survey was intact and the secondary survey revealed two small superficial lacerations at the anterior and posterior aspects of her anus, good sphincter tone, and malodorous dark rectal discharge mixed with blood. Abdominal examination revealed tenderness to palpation over the lower quadrants with guarding. Given the above findings, the patient was taken to the operating room for surgical evaluation and treatment. She was placed in the lithotomy position and proctoscopy performed. Visualization was difficult secondary to a large amount of dark, watery anal discharge but a large posterior rectal defect was appreciated on examination, about 6 cm from the anal verge. The surgical team proceeded to perform a diagnostic laparoscopy which was converted to an exploratory laparotomy after confirmation of intra-abdominal extension of contaminated water. Upon evaluation of the pelvis, the presacral space was found to be dissected with underlying exposure of the sacrum and rupture of the retroperitoneum near the bifurcation of the aorta. Additionally, large amounts of contaminated water were found throughout the bilateral paracolic gutters and between the small bowel loops. The rectum also demonstrated a 5 cm anterior vertical serosal tear. Surgical intervention involved stapling and transection of the rectosigmoid junction leaving ~15cm rectal stump and providing colonic diversion, rectal serosal repair, abdominal washout, drain placement within the presacral space exiting the right lower abdominal quadrant, and temporary abdominal closure. She remained intubated and was admitted to the trauma surgical intensive care unit. Planned takeback occurred 24 hours later. Proctoscopy was repeated with better visualization. The rectal defect was found to involve approximately 40% of the posterior circumference. The celiotomy was reopened and explored, no residual fluid collections were noted, all observed bowel was viable. The abdominal cavity and presacral space were irrigated once more and a second drain placed exiting the left lower abdominal quadrant. An end sigmoid colostomy was created and the abdominal fascia closed. A subcutaneous wound vacuum device was placed. The patient was extubated and returned to the ICU. Postoperative care included empiric broad spectrum antibiotic coverage for freshwater organisms. The initial regimen included Levaquin and Flagyl for anaerobic/gram-negative bowel flora contamination and Clindamycin with Fluconazole for possible endemic organisms present within the water contamination. This antibiotic combination was continued from the time of admission until 24 hours after final closure when Clindamycin and Flagyl were discontinued. Intraoperative cultures resulted negative and all antibiotics were discontinued after a total of nine days. On postoperative day fourteen, the patient began to experience intermittent fevers with moderately elevated leukocytosis. Computed tomography of the pelvis showed an abscess collection present within the presacral space. Interventional radiology was consulted for percutaneous drain placement. Drain cultures were taken and yielded a specimen positive for multi-drug resistant Staph epidermidis, Streptococcus viridans, and Gardnerella vaginalis, for which she was treated with Cefepime, Flagyl, and Vancomycin. On postoperative day nineteen, the patient continued to experience intermittent fevers. Repeat imaging of the pelvis showed an abscess collection present despite the surgical drains in place. The patient was returned to the operating room for surgical drainage. She was placed in the lithotomy position and proctoscopy was performed with the rectal defect irrigated with two liters normal saline to drain the presacral abscess. A large penrose drain was left in place through the defect. Antibiotic coverage was continued until the patient’s discharge to an ancillary facility. Conclusions: The above case presents several points of interest. Rectal injuries and perforations from high pressure water exposure is an uncommonly reported incident and the subsequent management less defined. The initial approach to such an injury first requires recognition of the potential sequelae of the mechanism and appropriate evaluation of the patient’s clinical status. A prior case report acknowledged the benefits of a multimodal assessment with the use of imaging and non-operative interventions as warranted in hemodynamically stable patients in whom peritonitis was not present¹. For more severe cases, where further intra-abdominal involvement is suspected, imaging becomes more selected as surgical intervention will most likely be warranted. Close examination of the entire perineal region should be performed, including both the genital and anal areas. Proctoscopy is beneficial in identifying the proximity and circumference extent of the rectal injury, which may be difficult to assess during laparotomy, especially if present on the posterior/retroperitoneal surface. Frequently, however, frank watery discharge is present in excess and impedes visualization of the injury. When intra-abdominal extension is likely, laparoscopy/laparotomy is indicated for presacral drainage. In the case above, exposure of this area showed a large dead space created by the pressure injury, denoting a difficult area to control surgically and subsequently abscesses occurred despite multiple drains in place. As commonly documented in previously reported cases, an end diverting colostomy was created. After adequate drainage and diversion, the rectal injury is allow to heal without attempts at primary closure². A colorectal consultation may be beneficial, both at the onset of treatment and for further long-term followup. Empiric antibiotic coverage should be initiated to include specimens both present within the gastrointestinal tract and water source. Freshwater exposure includes Aeromonas, Edwardsiella, Erysipelothrix, Vibrio, and Mycobacterium species. A third or fourth generation cephalosporin, fluoroquinolone or clindamycin is appropriate for gram-negative coverage in addition to Vancomycin for gram-positive organisms. Metronidazole should be added for anaerobic coverage. Antibiotics can then be tailored once cultures have speciated³⁻⁴. Multidisciplinary care is advantageous in a unique case such as this and should follow the tenants of safe surgical diversion and drainage. Awareness of rectal injuries associated with watercraft vessels can aid in prompt identification and effective management. References Wyatt SN, Lockhart ME, Richter HE. Hydrostatic injury surgical planning. J Low Genit Tract Dis. 2015;19(2):e40-2. Gill, Richdeep S. et al. Hydrostatic rectosigmoid perforation: a rare personal watercraft injury, Journal of Pediatric Surgery, Volume 46, Issue 2, 402-404 Collier DN. Cutaneous infections from coastal and marine bacteria. Dermatol Ther 2002; 15:1. Noonburg, GE., Management of extremity trauma and related infections occurring in the aquatic environment. J Am Acad Ortho Surg., 2005 July-Aug;13(4):243-53