Medical Specialties Commons^™

Training In Temporal Bone Surgery: A Review Of Current Practices, Muhammad Wasif, Abdul Basit Shah Vardag, Ainulakbar Mughal, Syed Akbar Abbas, Shayan Khalid, Hamdan Ahmed Pasha

Section of Otolaryngology, Head & Neck Surgery

The temporal bone consists of complex anatomy, and the presence of various vital structures in close proximity makes the surgery of temporal bone highly challenging. Such a surgery requires years of training under the direct observation of trainers. Over the course of history, different training models have been adopted by experts to help train the young surgeons in this complex procedure. Cadaveric dissections of the temporal bone remains the gold standard in training of residents as the cadavers present the actual anatomical details which the surgeons encounter while operating on patients. However, due to scarcity of available cadavers, their one-time-only …

Use Of Endoscope In Teaching Of Otolaryngology Residents About Site And Size Of Tympanic Membrane Perforation And Its Impact On Degree Of Hearing Loss In Adult Patients: A Cross Sectional Study, Muntazir Hussain, Muhammad Wasif, Mohammad Sohail Awan, Shayan Khalid, Zeeshan Sheikh, Haissan Iftikhar

Section of Otolaryngology, Head & Neck Surgery

Objective: To determine the association between site and size of perforation of the tympanic membrane and the level of conductive hearing.
Methods: The cross-sectional study was conducted from November 2015 to October 2016 at Aga Khan University Hospital Karachi and comprised patients with tympanic membrane perforation without any other middle-ear disease. Karl-Storz Rigid Endoscope attached to a camera was used to take pictures of the tympanic membrane. Site of the perforation was determined using a vertical line to divide the membrane into two anterior and posterior halves. Size of the perforation was calculated as a percentage of the total membrane …

Updates On The Diagnosis And Management Of Hepatocellular Carcinoma, Aimun Raees, Muhammad Kamran, Hasan Özkan, Wasim Jafri

Section of Gastroenterology

Introduction: Globally, the incidence, as well as mortality, related to hepatocellular carcinoma (HCC) is on the rise, owing to relatively few curative options. Underlying cirrhosis is the most common etiology leading to HCC, but risk factors of cirrhosis show great regional variability. Over the years, there has been a steady development in the diagnostic and therapeutic modalities of HCC, including the availability of a wide range of systemic chemotherapeutic agents. We aim to review the recent advancements in the diagnostic and therapeutic strategies for HCC.
Methodology: The literature search was done using databases PubMed, Cochrane, and Science Direct, and the …

A Model For Inhalation Of Infectious Aerosol Contaminants In An Aircraft Passenger Cabin, Bert A. Silich

International Journal of Aviation, Aeronautics, and Aerospace

Aerosol contamination of an aircraft cabin by infectious passengers is a concern of passengers, aircrew and the aviation industry. This may be especially important during a pandemic, such as COVID-19, where the full extent of aerosol transmission is not well understood. A statistical method to determine the number of infectious passengers on board along with a mathematical model estimating the contaminant concentration of aerosols in the cabin and the number of inhaled infectious particles by passengers is presented. An example is used to demonstrated how the results can be estimated during normal operations and emergency conditions with malfunctions of the …

N95 Respirator Reuse, Decontamination Methods, And Microbial Burden: A Randomized Controlled Trial, Zi Yang Jiang, Zhen Huang, Isaac Schmale, Eric L Brown, Michael C Lorenz, Scott J Patlovich, Karan Goswami, Hannah B Wilson, Jumah Ahmad, Ronda Alexander, William Bryan, Luke Burke, Martin J Citardi, Jose Elias, Tang Ho, Jack Jacob, Garren Low, Pedro Miramón, Aniruddha U Patki, William C Yao, Amber U Luong

Faculty, Staff and Student Publications

PURPOSE: To evaluate the effectiveness and ease of N95 respirator decontamination methods in a clinic setting and to identify the extent of microbial colonization on respirators associated with reuse.

METHODS: In a prospective fashion, N95 respirators (n = 15) were randomized to a decontamination process (time, dry heat, or ultraviolet C light [UVC]) in outpatient clinics. Each respirator was re-used up to 5 separate clinic sessions. Swabs on each respirator for SARS-CoV-2, bacteria, and fungi were obtained before clinic, after clinic and post-treatment. Mask integrity was checked after each treatment (n = 68). Statistical analyses were performed to determine factors …

N95 Respirator Reuse, Decontamination Methods, And Microbial Burden: A Randomized Controlled Trial, Zi Yang Jiang, Zhen Huang, Isaac Schmale, Eric L Brown, Michael C Lorenz, Scott J Patlovich, Karan Goswami, Hannah B Wilson, Jumah Ahmad, Ronda Alexander, William Bryan, Luke Burke, Martin J Citardi, Jose Elias, Tang Ho, Jack Jacob, Garren Low, Pedro Miramón, Aniruddha U Patki, William C Yao, Amber U Luong

Faculty, Staff and Student Publications

PURPOSE: To evaluate the effectiveness and ease of N95 respirator decontamination methods in a clinic setting and to identify the extent of microbial colonization on respirators associated with reuse.

METHODS: In a prospective fashion, N95 respirators (n = 15) were randomized to a decontamination process (time, dry heat, or ultraviolet C light [UVC]) in outpatient clinics. Each respirator was re-used up to 5 separate clinic sessions. Swabs on each respirator for SARS-CoV-2, bacteria, and fungi were obtained before clinic, after clinic and post-treatment. Mask integrity was checked after each treatment (n = 68). Statistical analyses were performed to determine factors …

Pathologic Femur Fracture Through Osteoid Osteoma After Radiofrequency Ablation: Case Report And Review Of The Literature, Nathan B Rogers, Brennan P Roper, Alfred A Mansour

Faculty, Staff and Student Publications

This is a case report of a 4-year-old girl who sustained a femoral shaft fracture 2 weeks after radiofrequency ablation of an osteoid osteoma. The fracture occurred after a relatively low-energy impact, jumping off the second to last step of a staircase. The pathologic fracture was successfully treated with closed reduction and spica casting, with full return to activities. Cases have been reported in the literature of femoral shaft fractures in older patients after radiofrequency ablation, but all are farther out than 2 weeks and none in patients as young as 4 years.

Extensive Mycobacterium Abscessus Pneumonia In An Immunocompetent Infant With No Underlying Lung Pathology, Morouge M Alramadhan, James R Murphy, Michael L Chang

Faculty, Staff and Student Publications

Pulmonary infection due to Mycobacterium abscessus occurs in patients with cystic fibrosis, but rarely in immunocompetent children without underlying lung pathology. Treatment is complicated by frequent resistance to many antibiotics. We present a case report of a 4-month-old female infant with 2 months of cough, difficulty feeding, and failure to thrive, with extensive culture-confirmed M. abscessus pulmonary infection without identified immunodeficiency or underlying lung pathology following multidisciplinary evaluation. We describe our complete evaluation including immunodeficiency evaluation incorporating whole-exome sequencing, describe our antibiotic selection and treatment duration given complicated susceptibility pattern of the M. abscessus isolate, and review literature for nontuberculous …

Recognizing A Mis-Chievous Cause Of Acute Viral Gastroenteritis, Rohit Josyabhatla, Ankur A Kamdar, Shabba A Armbrister, Rhea Daniel, Konstantinos Boukas, Keely G Smith, Melissa R Van Arsdall, Kokila Kakarala, Anthony R Flores, Audrey Wanger, Yuying Liu, Jon Marc Rhoads

Faculty, Staff and Student Publications

Historically, children evaluated for vomiting and diarrhea secondary to viral enteritis have symptoms lasting 2-4 days and respond to supportive care, including oral rehydration and anti-emetics if required. Recently, within a 14-day timespan, we encountered three children with severe diarrhea who rapidly became dehydrated and went into hypotensive shock. Although SARS-CoV-2 molecular tests were negative by nasopharyngeal swab, all were later found to have MIS-C. This small case series underscores features reported in previous larger studies and emphasizes the rapid clinical evolution of this condition. We highlight the importance of early recognition of cardinal laboratory findings characteristic of MIS-C (i.e., …

Can Erythropoietin Reduce Hypoxemic Neurological Damages In Neonates With Congenital Heart Defects?, Sara Ottolenghi, Giuseppina Milano, Michele Dei Cas, Tina O Findley, Rita Paroni, Antonio F Corno

Faculty, Staff and Student Publications

Congenital heart defects (CHD), the most common cause of birth defects with increasing birth prevalence, affect nearly 1% of live births worldwide. Cyanotic CHD are characterized by hypoxemia, with subsequent reduced oxygen delivery to the brain, especially critical during brain development, beginning in the fetus and continuing through the neonatal period. Therefore, neonates with CHD carry a high risk for neurological comorbidities, even more frequently when there are associated underlying genetic disorders. We review the currently available knowledge on potential prevention strategies to reduce brain damage induced by hypoxemia during fetal development and immediately after birth, and the role of …

Recurrent Nontuberculous Mycobacterial Tenosynovitis, Melissa Kwan, Richard Tupler

Faculty, Staff and Student Publications

Background: Nontuberculous mycobacteria are an uncommon pathogen for musculoskeletal infection and are difficult to treat because of delays in diagnosis, prolonged treatment requiring both antimycobacterial therapy and surgical debridement, and high rates of resistance to antimycobacterial therapy.

Case Report: We report the case of an 88-year-old male with recurrent Mycobacterium avium complex tenosynovitis despite receiving multiple courses of pharmacologic therapy and surgical debridement.

Conclusion: Nontuberculous mycobacterial musculoskeletal infections can be difficult to diagnose and equally difficult to treat. A combination of antimycobacterial therapy and surgical debridement is often required; however, the rate of treatment failure remains high, particularly with rapidly …

Correlation Between Concentrations Of Four Heavy Metals In Cord Blood And Childhood Blood Of Jamaican Children, Mohammad H Rahbar, Maureen Samms-Vaughan, Manouchehr Hessabi, Jan Bressler, Shezeen Gillani, Megan L Grove, Sydonnie Shakspeare-Pellington, Katherine A Loveland

Faculty, Staff and Student Publications

This study investigated whether the concentrations of four metals [lead (Pb), mercury (Hg), manganese (Mn), and aluminum (Al)] are correlated in cord blood and childhood blood samples from Jamaican children. Cord blood samples were obtained from 21 pregnant women enrolled in the second Jamaican Birth Cohort Study from July 1, 2011 to September 30, 2011, and blood samples were drawn from their children who participated in a follow up study when the children were 4–8 years old. Correlations were assessed by the Pearson or the Spearman’s rank correlation coefficient. The mean ages of children at the childhood visit and their …

Endmt Regulation By Small Rnas In Diabetes-Associated Fibrotic Conditions: Potential Link With Oxidative Stress, Roberta Giordo, Yusra M A Ahmed, Hilda Allam, Salah Abusnana, Lucia Pappalardo, Gheyath K Nasrallah, Arduino Aleksander Mangoni, Gianfranco Pintus

Faculty, Staff and Student Publications

Diabetes-associated complications, such as retinopathy, nephropathy, cardiomyopathy, and atherosclerosis, the main consequences of long-term hyperglycemia, often lead to organ dysfunction, disability, and increased mortality. A common denominator of these complications is the myofibroblast-driven excessive deposition of extracellular matrix proteins. Although fibroblast appears to be the primary source of myofibroblasts, other cells, including endothelial cells, can generate myofibroblasts through a process known as endothelial to mesenchymal transition (EndMT). During EndMT, endothelial cells lose their typical phenotype to acquire mesenchymal features, characterized by the development of invasive and migratory abilities as well as the expression of typical mesenchymal products such as α-smooth …

Nebulizer-Based Systems To Improve Pharmaceutical Aerosol Delivery To The Lungs, Benjamin M. Spence

Theses and Dissertations

Combining vibrating mesh nebulizers with additional new technologies leads to substantial improvements in pharmaceutical aerosol delivery to the lungs across therapeutic administration methods. In this dissertation, streamlined components, aerosol administration synchronization, and/or Excipient Enhanced Growth (EEG) technologies were utilized to develop and test several novel devices and aerosol delivery systems. The first focus of this work was to improve the poor delivery efficiency, e.g., 3.6% of nominal dose (Dugernier et al. 2017), of aerosolized medication administration to adult human subjects concurrent with high flow nasal cannula (HFNC) therapy, a form of continuous-flow non-invasive ventilation (NIV). The developed Low-Volume Mixer-Heater (LVMH) …

To Determine The Efficacy Of Bilateral Inferior Petrosal Sinus Sampling In Differentiating Cushing Disease From Ectopic Cushing Syndrome, Muhammad Azeemuddin, Tanveer Ul Haq, Shahmeer Khan, Raza Sayani, Ayesha Shoukat Hussain, Rumaisa Khan

Department of Radiology

Management of endogenous Cushing syndrome is based on its aetiology. Increased Adrenocorticotropic Hormone (ACTH) levels are the most common cause of this disorder and, therefore, it is critical to determine the source of ACTH before further management. Dynamic post contrast MRI is currently the most common investigation implied to diagnose pituitary adenoma; however, it comes with the drawback of low specificity and high false positive results. Inferior petrosal sinus sampling (IPSS) is an established invasive procedure performed to differentiate central versus peripheral source of ACTH which, in turn, results in hypercortesolaemia. This is a series of 14 patients who underwent …

Bypassing The Blood-Brain Barrier: A Physical And Pharmacological Approach For The Treatment Of Metastatic Brain Tumors, Samuel A. Sprowls

Graduate Theses, Dissertations, and Problem Reports (ETD)

This dissertation (a) provided an in depth literature review of methods to disrupt the BBB/BTB and improve therapeutic distribution to brain tumors, (b) evaluated the use of azacitidine as a single agent therapy for the treatment of brain metastasis of breast cancer and a potential molecular mechanism by which brain tropic cells are sensitized to hypomethylating agents, (c) determined the impact cannabidiol has on P-glycoprotein mediated efflux at the blood-brain barrier and its potential for use as a single agent treatment for metastatic brain tumors, (d) developed a preclinical radiation therapy protocol for use in small animals and in vitro …

Collagen Fiber Regulation In Human Pediatric Aortic Valve Development And Disease, Cassandra L. Clift, Yan Ru Su, David Bichell, Heather Jensen Smith, Jennifer R. Bethard, Kim Norris-Caneda, Susana Comte-Walters, Lauren E. Ball, Michael A. Hollingsworth, Anand S. Mehta, Richard R. Drake, Peggi M. Angel

Journal Articles: Eppley Institute

Congenital aortic valve stenosis (CAVS) affects up to 10% of the world population without medical therapies to treat the disease. New molecular targets are continually being sought that can halt CAVS progression. Collagen deregulation is a hallmark of CAVS yet remains mostly undefined. Here, histological studies were paired with high resolution accurate mass (HRAM) collagen-targeting proteomics to investigate collagen fiber production with collagen regulation associated with human AV development and pediatric end-stage CAVS (pCAVS). Histological studies identified collagen fiber realignment and unique regions of high-density collagen in pCAVS. Proteomic analysis reported specific collagen peptides are modified by hydroxylated prolines (HYP), …

Meld-Na Is More Strongly Associated With Risk Of Infection And Outcomes Than Other Characteristics Of Patients With Cirrhosis, Zachary P Fricker, V V Pavan Kedar Mukthinuthalapati, Samuel Akinyeye, Naga Chalasani, Bashar M Attar, Maya Balakrishnan, Marwan Ghabril, Michelle T Long

Faculty, Staff and Students Publications

BACKGROUND AND AIMS: The nature and outcomes of infection among patients with cirrhosis in safety-net hospitals are not well described. We aimed to characterize the rate of and risk factors for infection, both present on admission and nosocomial, in this unique population. We hypothesized that infections would be associated with adverse outcomes such as short-term mortality.

METHODS: We used descriptive statistics to characterize infections within a retrospective cohort characterized previously. We used multivariable logistic regression models to assess potential risk factors for infection and associations with key outcomes such as short-term mortality and length of stay.

RESULTS: The study cohort …

Prevalence And Factors Associated With Nafld Detected By Vibration Controlled Transient Elastography Among Us Adults: Results From Nhanes 2017–2018, Xiaotao Zhang, Natalia I Heredia, Maya Balakrishnan, Aaron P Thrift

Faculty, Staff and Students Publications

BACKGROUND: Non-alcoholic fatty liver disease (NAFLD) is increasingly common in the adult population. In the United States, the overall burden of NAFLD is unknown due to challenges with population-level NAFLD detection. The purpose of this study was to estimate prevalence of NAFLD and significant NAFLD fibrosis and identify factors associated with them in the U.S.

METHODS: Data came from the 2017-2018 cycle of National Health and Nutrition Examination Survey. We defined NAFLD by controlled attenuation parameter (CAP) scores of ≥248 dB/m in absence of excessive alcohol use and viral hepatitis. We defined significant fibrosis as Vibration controlled transient elastography (VCTE) …

Protein-Functionalized Poly(Ethylene Glycol) Hydrogels As Scaffolds For Monolayer Organoid Culture, Reid L Wilson, Ganesh Swaminathan, Khalil Ettayebi, Carolyn Bomidi, Xi-Lei Zeng, Sarah E Blutt, Mary K Estes, K Jane Grande-Allen

Faculty, Staff and Students Publications

Stem cell-derived, organotypic in vitro models, known as organoids, have emerged as superior alternatives to traditional cell culture models due to their unparalleled ability to recreate complex physiological and pathophysiological processes. For this reason, they are attractive targets of tissue-engineering efforts, as constructs that include organoid technology would be expected to better simulate the many functions of the desired tissue or organ. While the 3D spheroidal architecture that is the default architecture of most organoid models may be preferred for some applications, 2D monolayer arrangements remain the preferred organization for many applications in tissue engineering. Therefore, in this work, we …

Alcohol Consumption And The Risk Of Gastric Intestinal Metaplasia In A Us Veterans Population, Hudson M Holmes, Andre G Jove, Mimi C Tan, Hashem B El-Serag, Aaron P Thrift

Faculty, Staff and Students Publications

BACKGROUND: Chronic alcohol use is a risk factor for non-cardia gastric adenocarcinoma. However, it is less well understood whether alcohol use is a risk factor for premalignant mucosal changes, namely gastric intestinal metaplasia. We examined the association between various parameters of alcohol use and risk of gastric intestinal metaplasia.

METHODS: We used data from 2084 participants (including 403 with gastric intestinal metaplasia) recruited between February 2008-August 2013 into a cross-sectional study at the Michael E. DeBakey Veterans Affairs Medical Center in Houston, Texas. All participants underwent a study upper endoscopy with systematic gastric mapping biopsies. Cases had intestinal metaplasia on …

High Flow Nasal Cannula Therapy In Children With Acute Respiratory Insufficiency In The Pediatric Intensive Care Unit Of A Resource-Limited Country: A Preliminary Experience, Bushra Saeed, Asim Azim, Anwar Ul Haque, Qalab Abbas

Department of Paediatrics and Child Health

A retrospective study was performed in children (aged one month - 16 years) receiving HFNC to determine the frequency, efficacy and adverse effects of high flow nasal cannula (HFNC) therapy in the pediatric intensive care unit (PICU), from January to December 2017. Treatment failure was defined as clinical deterioration on HFNC therapy such that mechanical ventilation (MV) was required. Clinical parameters before and after HFNC were assessed using repeated measures analysis of variance. A total of 120 patients received HFNC therapy (21% of total admissions). Primary diagnosis were respiratory disease (50%), central nervous system diseases (14.2%), sepsis (10.8%), and postoperative …

Understanding And Promoting Racial Diversity In Healthcare Settings To Address Disparities In Pandemic Crisis Management, Azza Sarfraz, Zouina Sarfraz, Alanna Barrios, Kuchalambal Agadi, Sindhu Thevuthasan, Krunal Pandav, Manish Kc, Muzna Sarfraz, Pedram Rad, George Michel

Department of Paediatrics and Child Health

Background: Health disparities have become apparent since the beginning of the COVID-19 pandemic. When observing racial discrimination in healthcare, self-reported incidences, and perceptions among minority groups in the United States suggest that, the most socioeconomically underrepresented groups will suffer disproportionately in COVID-19 due to synergistic mechanisms. This study reports racially-stratified data regarding the experiences and impacts of different groups availing the healthcare system to identify disparities in outcomes of minority and majority groups in the United States.
Methods: Studies were identified utilizing PubMed, Embase, CINAHL Plus, and PsycINFO search engines without date and language restrictions. The following keywords were used: …

Papillary Fibroelastoma In Differential Diagnosis Of Left Atrial Appendage Masses, Anthony Alozie, Annette Zimpfer, Andreas Erbersdobler, Felix G Meinel, Pascal M Dohmen, Alper Öner

The Texas Heart Institute Journal

Papillary fibroelastomas are benign tumors that usually originate from cardiac valves but may have other endocardial origins. We report the cases of 2 patients in whom left atrial appendage masses were initially diagnosed as thrombus. They were treated for embolic stroke and their symptoms resolved; however, their left atrial appendage masses did not regress. After surgery, histologic analysis of the resected masses revealed papillary fibroelastoma in both cases. We discuss the diagnostic and therapeutic dilemmas encountered in patients with papillary fibroelastomas and cardiac masses other than thrombus.

Mitral Valve Repair Complicated By Left Circumflex Coronary Artery Occlusion: The Vital Role Of The Anesthesiologist, Andres Bacigalupo Landa, Jason Hoyos, Jayanand D'Mello

Faculty, Staff and Students Publications

The anatomical relationship between the mitral valve and the left circumflex coronary artery places this vessel at risk for occlusion during mitral valve repair or replacement. In view of the potential high morbidity and mortality of this complication, the anesthesiologist has a vital role in its prompt diagnosis. We present the case of a 47-year-old man who underwent a minimally invasive mitral valve repair, which was complicated by left circumflex coronary artery occlusion.

A New Aortic Arch Dissection Classification: The Fuwai Classification, Juntao Qiu, Xinjin Luo, Jinlin Wu, Wei Pan, Qian Chang, Xiangyang Qian, Xiaogang Sun, Bo Wei, Liang Zhang, Shen Liu, Wenxiang Jiang, Cuntao Yu

Faculty, Staff and Students Publications

Aims: We describe a new aortic arch dissection (AcD) classification, which we have called the Fuwai classification. We then compare the clinical characteristics and long-term prognoses of different classifications.

Methods: All AcD patients who underwent surgical procedures at Fuwai Hospital from 2010 to 2015 were included in the study. AcD procedures are divided into three types: Fuwai type Cp, Ct, and Cd. Type Cp is defined as the innominate artery or combined with the left carotid artery involved. Type Cd is defined as the left subclavian artery or combined with the left carotid artery involved. All other AcD surgeries are …

Rapid Induction Of The Unfolded Protein Response And Apoptosis By Estrogen Mimic Ttc-352 For The Treatment Of Endocrine-Resistant Breast Cancer, Balkees Abderrahman, Philipp Y Maximov, Ramona F Curpan, Sean W Fanning, Jay S Hanspal, Ping Fan, Charles E Foulds, Yue Chen, Anna Malovannaya, Antrix Jain, Rui Xiong, Geoffrey L Greene, Debra A Tonetti, Gregory R J Thatcher, V Craig Jordan

Faculty, Staff and Students Publications

Patients with long-term estrogen-deprived breast cancer (BC), after resistance to tamoxifen or aromatase inhibitors develops, can experience tumor regression when treated with estrogens. Estrogen’s anti-tumor effect is attributed to apoptosis via the estrogen receptor (ER). Estrogen treatment can have unpleasant gynecological and non-gynecological adverse events thus the development of safer estrogenic agents remains a clinical priority. Here, we study synthetic selective estrogen mimics (SEMs) BMI-135 and TTC-352, and the naturally-occurring estrogen estetrol (E4), which are proposed as safer estrogenic agents compared to 17β-estradiol (E2), for the treatment of endocrine-resistant BC. TTC-352 and E4 are being evaluated in BC clinical trials. …

The E3 Ligase Traf4 Promotes Igf Signaling By Mediating Atypical Ubiquitination Of Irs-1, Wenjuan Yu, Ramesh Singh, Zhao Wang, Bert W O'Malley, Ping Yi

Faculty, Staff and Students Publications

Insulin-like growth factor (IGF) is a potent mitogen that activates the IGF receptor (IGFR)/insulin receptor substrate (IRS) axis, thus stimulating growth in normal cells and uncontrolled cell proliferation in cancer. Posttranslational modifications of IRS such as ubiquitination tightly control IGF signaling, and we previously identified IRS-1 as a potential substrate for the E3 ubiquitin ligase TRAF4 using an unbiased screen. Here we provide evidence that TRAF4-mediated ubiquitination of IRS-1 is physiologically relevant and crucial for IGF signal transduction. Through site-directed mutagenesis we found that TRAF4 promotes an atypical K29-linked ubiquitination at the C-terminal end of IRS-1. Its depletion abolishes AKT …

Novel Mutations In The Gtpbp3 Gene For Mitochondrial Disease And Characteristics Of Related Phenotypic Spectrum: The First Three Cases From China, Hui-Ming Yan, Zhi-Mei Liu, Bei Cao, Victor Wei Zhang, Yi-Duo He, Zheng-Jun Jia, Hui Xi, Jing Liu, Fang Fang, Hua Wang

Faculty, Staff and Students Publications

Combined Oxidative Phosphorylation Deficiency 23 (COXPD23) caused by mutations in GTPBP3 gene is a rare mitochondrial disease, and this disorder identified from the Chinese population has not been described thus far. Here, we report a case series of three patients with COXPD23 caused by GTPBP3 mutations, from a severe to a mild phenotype. The main clinical features of these patients include lactic acidosis, myocardial damage, and neurologic symptoms. Whole genome sequencing and targeted panels of candidate human mitochondrial genome revealed that patient 1 was a compound heterozygote with novel mutations c.413C > T (p. A138V) and c.509_510del (p. E170Gfs∗42) in GTPBP3 …

Trace Element Concentrations In Blood And Scute Tissues From Wild And Captive Hawaiian Green Sea Turtles (Chelonia Mydas), Katherine R Shaw, Jennifer M Lynch, George H Balazs, T Todd Jones, Jeff Pawloski, Marc R Rice, Amanda D French, Jing Liu, George P Cobb, David M Klein

Faculty, Staff and Students Publications

Sea turtles are exposed to trace elements through water, sediment, and food. Exposure to these elements has been shown to decrease immune function, impair growth, and decrease reproductive output in wildlife. This study compares trace element concentrations in green turtles in captivity at Sea Life Park Hawaii (n = 6) to wild green turtles in Kapoho Bay, HI (n = 5 to 7). Blood and scute samples were collected and analyzed for eleven elements via inductively coupled plasma-mass spectrometry (ICP-MS). Selenium was significantly greater (p < 0.05) in the blood of captive turtles compared to wild turtles, while V, Ni, and Pb were significantly greater in the blood of wild turtles. In scute, V, Cu, Se, and Cr were significantly greater in captive turtles, while As was significantly greater in wild turtles. Pelleted food fed to the captive turtles and representative samples of the wild turtle diet were analyzed via ICP-MS to calculate trophic transfer factors and daily intake values. Wild turtles had greater estimated daily intake than captive turtles for all elements except Cu and Se. Because captive turtles are fed a diet very different from their wild counterparts, captive turtles do not represent control or reference samples for chemical exposure studies in wild turtles. No toxic thresholds are known for sea turtles, but rehabilitation and managed care facilities should monitor sea turtle elemental concentrations to ensure the animals’ health.