Medical Specialties Commons^™

How Do Necrotic Cells Expose Phosphatidylserine To Attract Their Predators-What’S Unique And What’S In Common With Apoptotic Cells, Yoshitaka Furuta, Zheng Zhou

Faculty, Staff and Students Publications

Phosphatidylserine (PS) is a lipid component of the plasma membrane. It is asymmetrically distributed to the inner leaflet in live cells. In cells undergoing apoptosis, phosphatidylserine is exposed to the outer surfaces. The exposed phosphatidylserine acts as an evolutionarily conserved “eat-me” signal that attracts neighboring engulfing cells in metazoan organisms, including the nematode Caenorhabditis elegans, the fruit fly Drosophila melanogaster, and mammals. During apoptosis, the exposure of phosphatidylserine to the outer surface of a cell is driven by the membrane scramblases and flippases, the activities of which are regulated by caspases. Cells undergoing necrosis, a kind of cell …

Demographics Of Skin Cancer Knowledge Among Middle And High Schoolers In Texas, Dina H Zamil, Shangyi Fu, Zahra Majd, Emily Powell, Jenna H Zamil, Zeena Y Nawas, Ida F Orengo

Faculty, Staff and Students Publications

INTRODUCTION: Adolescents, an age group that can reduce sun exposure early, may benefit from school-based skin cancer education programs. Literature regarding the demographics of melanoma knowledge is sparse.

OBJECTIVES: This study sought to evaluate melanoma knowledge among students in Texas viewing John Wayne Cancer Foundation Block the Blaze (JWCFBTB) presentations and identify group differences with regard to sociodemographic factors.

METHODS: Before JWCFBTB presentations delivered in Houston and Dallas by health professions students, a pre-presentation melanoma knowledge quiz was distributed. This survey was adapted from a 2000 study evaluating melanoma knowledge in middle and high schoolers in Houston and Dallas. Respondents …

Squamous Cell Carcinoma With Unusual Benign-Appearing Cystic Features On Histology, Usman Asad, Suzanne Alkul, Ikue Shimizu, Jennifer Ranario

Faculty, Staff and Students Publications

Squamous cell carcinoma (SCC) is a malignancy that arises from keratinocytes of the epidermis. Cystic variants of several types of cutaneous neoplasms have been rarely described in the literature. We report a case of biopsy-proven, well-differentiated invasive SCC treated with Mohs surgery. On frozen sections, the pathology slides showed benign-appearing cystic structures in the margins that persisted after it had appeared that the original malignancy had been cleared. After taking another Mohs stage due to clinical suspicion, additional SCC was found and was subsequently cleared after two more Mohs stages. To the best of our knowledge, this is the first …

Development Of A Peripheral Blood Transcriptomic Gene Signature To Predict Bronchopulmonary Dysplasia, Alvaro Moreira, Miriam Tovar, Alisha M Smith, Grace C Lee, Justin A Meunier, Zoya Cheema, Axel Moreira, Caitlyn Winter, Shamimunisa B Mustafa, Steven Seidner, Tina Findley, Joe G N Garcia, Bernard Thébaud, Przemko Kwinta, Sunil K Ahuja

Faculty, Staff and Students Publications

Bronchopulmonary dysplasia (BPD) is the most common lung disease of extreme prematurity, yet mechanisms that associate with or identify neonates with increased susceptibility for BPD are largely unknown. Combining artificial intelligence with gene expression data is a novel approach that may assist in better understanding mechanisms underpinning chronic lung disease and in stratifying patients at greater risk for BPD. The objective of this study is to develop an early peripheral blood transcriptomic signature that can predict preterm neonates at risk for developing BPD. Secondary analysis of whole blood microarray data from 97 very low birth weight neonates on day of …

Implementation And Outcomes Of A Comprehensive Emergency Care Curriculum At A Low-Resource Referral Hospital In Liberia: A Novel Approach To Application Of The Who Basic Emergency Care Toolkit, Lane Epps, Anu Ramachandran, Sojung Yi, Alexander Mayah, Taylor Burkholder, Michael Jaung, Ahson Haider, Paul Wesseh, John Shakpeh, Corey Bills, Kayla Enriquez

Faculty, Staff and Students Publications

BACKGROUND: Emergency care is vital in low- and middle-income countries (LMICs) but many frontline healthcare workers in low-resource settings have no formal training in emergency care. To address this gap, the World Health Organization (WHO) developed Basic Emergency Care (BEC): Approach to the acutely ill and injured, a multi-day, open-source course for healthcare workers in low-resource settings. Building on the BEC foundation, this study uses an implementation science (IS) lens to develop, implement, and evaluate a comprehensive emergency care curriculum in a single emergency facility in Liberia.

METHODS: A six-month emergency care curriculum consisting of BEC content, standardized WHO clinical …

Combating Hypertension Beyond Genome-Wide Association Studies: Microbiome And Artificial Intelligence As Opportunities For Precision Medicine, Sachin Aryal, Ishan Manandhar, Xue Mei, Beng S Yeoh, Ramakumar Tummala, Piu Saha, Islam Osman, Jasenka Zubcevic, David J Durgan, Matam Vijay-Kumar, Bina Joe

Faculty, Staff and Students Publications

The single largest contributor to human mortality is cardiovascular disease, the top risk factor for which is hypertension (HTN). The last two decades have placed much emphasis on the identification of genetic factors contributing to HTN. As a result, over 1,500 genetic alleles have been associated with human HTN. Mapping studies using genetic models of HTN have yielded hundreds of blood pressure (BP) loci but their individual effects on BP are minor, which limits opportunities to target them in the clinic. The value of collecting genome-wide association data is evident in ongoing research, which is beginning to utilize these data …

Open-Source, Highly Efficient, Post-Acquisition Synchronization For 4d Dual-Contrast Imaging Of The Mouse Embryonic Heart Over Development With Optical Coherence Tomography, Andre C Faubert, Irina V Larina, Shang Wang

Faculty, Staff and Students Publications

Dynamic imaging of the beating embryonic heart in 3D is critical for understanding cardiac development and defects. Optical coherence tomography (OCT) plays an important role in embryonic heart imaging with its unique imaging scale and label-free contrasts. In particular, 4D (3D + time) OCT imaging enabled biomechanical analysis of the developing heart in various animal models. While ultrafast OCT systems allow for direct volumetric imaging of the beating heart, the imaging speed remains limited, leading to an image quality inferior to that produced by post-acquisition synchronization. As OCT systems become increasingly available to a wide range of biomedical researchers, a …

Optical Coherence Tomography For Dynamic Investigation Of Mammalian Reproductive Processes, Kohei Umezu, Irina V Larina

Faculty, Staff and Students Publications

The biological events associated with mammalian reproductive processes are highly dynamic and tightly regulated by molecular, genetic, and biomechanical factors. Implementation of live imaging in reproductive research is vital for the advancement of our understanding of normal reproductive physiology and for improving the management of reproductive disorders. Optical coherence tomography (OCT) is emerging as a promising tool for dynamic volumetric imaging of various reproductive processes in mice and other animal models. In this review, we summarize recent studies employing OCT-based approaches toward the investigation of reproductive processes in both, males and females. We describe how OCT can be applied to …

A Novel Use Of Bar Code Medication Administration Data To Assess Nurse Staffing And Workload, Melissa K Knox, Paras D Mehta, Lynette E Dorsey, Christine Yang, Laura A Petersen

Faculty, Staff and Students Publications

OBJECTIVE: The aim of the study is to introduce an innovative use of bar code medication administration (BCMA) data, medication pass analysis, that allows for the examination of nurse staffing and workload using data generated during regular nursing workflow.

METHODS: Using 1 year (October 1, 2014-September 30, 2015) of BCMA data for 11 acute care units in one Veterans Affairs Medical Center, we determined the peak time for scheduled medications and included medications scheduled for and administered within 2 hours of that time in analyses. We established for each staff member their daily peak-time medication pass characteristics (number of patients, …

Neprilysin Inhibitors In Heart Failure: The Science, Mechanism Of Action, Clinical Studies, And Unanswered Questions, Biykem Bozkurt, Ajith P Nair, Arunima Misra, Claire Z Scott, Jamal H Mahar, Savitri Fedson

Faculty, Staff and Students Publications

This article provides a contemporary review and a new perspective on the role of neprilysin inhibition in heart failure (HF) in the context of recent clinical trials and addresses potential mechanisms and unanswered questions in certain HF patient populations. Neprilysin is an endopeptidase that cleaves a variety of peptides such as natriuretic peptides, bradykinin, adrenomedullin, substance P, angiotensin I and II, and endothelin. It has a broad role in cardiovascular, renal, pulmonary, gastrointestinal, endocrine, and neurologic functions. The combined angiotensin receptor and neprilysin inhibitor (ARNi) has been developed with an intent to increase vasodilatory natriuretic peptides and prevent counterregulatory activation …

Treatment Of Severe Covid-19 Infection With Remdesivir In Peritoneal Dialysis, Ryan Geffin, Shazia Raheem, Lavannya M Pandit, Andrew S Hunter, Michael W Holliday, Aditya V Rao, Maulin K Shah

Faculty, Staff and Students Publications

End-stage kidney disease (ESKD) has been shown to be correlated with an increased risk of COVID-19 infection and mortality. Remdesivir is an effective non-EUA U.S. Food and Drug Administration (FDA)-approved antiviral agent for the treatment of COVID-19 in hospitalized adult and pediatric patients, though a lack of data has prevented its use in patients with severe kidney disease including dialysis patients. Some observational studies report the use of remdesivir in hemodialysis patients, but there are no reports of patients treated with remdesivir on peritoneal dialysis. Dialysis modalities may affect drug pharmacokinetics, and safety and efficiency of remdesivir in peritoneal dialysis …

The Development Of Tumour Vascular Networks, Cassandra B Iroz, Willemijn L A Schäfer, Julie K Johnson, Meagan S Ager, Reiping Huang, Salva N Balbale, Jonah J Stulberg

Faculty, Staff and Student Publications

BACKGROUND: Opioids prescribed to treat postsurgical pain have contributed to the ongoing opioid epidemic. While opioid prescribing practices have improved, most patients do not use all their pills and do not safely dispose of leftovers, which creates a risk for unsafe use and diversion. We aimed to generate consensus on the content of a "safe opioid use agreement" for the perioperative settings to improve patients' safe use, storage, and disposal of opioids.

METHODS: We conducted a modified three-round Delphi study with clinicians across surgical specialties, quality improvement (QI) experts, and patients. In Round 1, participants completed a survey rating the …

Hiatal Hernia Repair With Transoral Incisionless Fundoplication Versus Nissen Fundoplication For Gastroesophageal Reflux Disease: A Retrospective Study, Veeravich K Jaruvongvanich, Reem Matar, Janani Reisenauer, Peter Janu, Peter Mavrelis, Glenn Ihde, Michael Murray, Sneha Singh, Jennifer Kolb, Ninh T Nguyen, Nirav Thosani, Erik B Wilson, Rasa Zarnegar, Kenneth Chang, Marcia I Canto, Barham K Abu Dayyeh

Faculty, Staff and Student Publications

Background and study aims  Concomitant hiatal hernia (HH) repair with transoral incisionless fundoplication (TIF) is a therapeutic option for patients with HH > 2 cm and gastroesophageal reflux disease (GERD). Data comparing this approach with laparoscopic Nissen fundoplication (LNF) are lacking. We performed an exploratory analysis to compare these two approaches' adverse events (AEs) and clinical outcomes.

Patients and methods  This was a multicenter retrospective cohort study of HH repair followed by LNF versus HH repair followed by TIF in patients with GERD and moderate HH (2–5 cm). AEs were assessed using the Clavien-Dindo classification. Symptoms (heartburn/regurgitation, bloating, and dysphagia) were …

Association Between Surgical Technical Skills And Clinical Outcomes: A Systematic Literature Review And Meta-Analysis, Michael S Woods, Joshua N Liberman, Pinyao Rui, Emily Wiggins, Joan White, Bruce Ramshaw, Jonah J Stulberg

Faculty, Staff and Student Publications

BACKGROUND: A systematic literature review and meta-analysis was conducted to assess the association between intraoperative surgical skill and clinical outcomes.

METHODS: Peer-reviewed, original research articles published through August 31, 2021 were identified from PubMed and Embase. From the 1,513 potential articles, seven met eligibility requirements, reporting on 151 surgeons and 17,932 procedures. All included retrospective assessment of operative videos. Associations between surgical skill and outcomes were assessed by pooling odds ratios (OR) using random-effects models with the inverse variance method. Eligible studies included pancreaticoduodenectomy, gastric bypass, laparoscopic gastrectomy, prostatectomy, colorectal, and hemicolectomy procedures.

RESULTS: Meta-analytic pooling identified significant associations between …

Utilizing 10khz Stimulation To Salvage A Failed Low Frequency Spinal Cord Stimulation Trial, Jamal Hasoon, Christopher Robinson, Ivan Urits, Omar Viswanath, Alan D Kaye

Faculty, Staff and Student Publications

Spinal cord stimulation (SCS) is a viable treatment option for chronic pain. One of the primary indications for SCS implantation is persistent pain after spinal surgery. Studies have demonstrated that these patients have a better response to SCS over conservative management or repeat surgery. Traditional SCS therapy uses parasthesias to overlap a patient's pain pattern and provide relief, though some patients find this uncomfortable. To avoid the use of paresthesias, a 10kHz waveform can be utilized to provide a subthreshold level of high frequency stimulation to provide superior pain relief without paresthesias. Additionally, 10kHz stimulation may be used to salvage …

Review: Discogenic Back Pain: Update On Treatment, Edgar Remotti, Chinoso Nduaguba, Parker A Woolley, Ryan Ricciardelli, Anh Phung, Rosa Kim, Ivan Urits, Alan David Kaye, Jamal Hasoon, Thomas Simopoulos, Cyrus Yazdi, Christopher L Robinson

Faculty, Staff and Student Publications

Purpose of review: Lower back pain (LBP) has a lifetime prevalence of 80% in the United States population. Discogenic back pain (DBP), a subcategory of LBP, occurs as a result of the interverbal disc degeneration without disc herniation. Diagnosis relies on history, physical exam, and imaging such as MRI, provocative discography, or CT discography.

Recent findings: Treatment of DBP involves a multifaceted approach with an emphasis on conservative measures including behavioral modification, pharmacologic management, and other non-pharmacologic interventions with invasive therapy reserved for select patients. Due to the paucity of data on the treatment of DBP, treatment also relies on …

Burning Mouth Syndrome Treated With Mandibular And Maxillary Nerve Blocks, Jamal Hasoon, Christopher Robinson, Ivan Urits, Omar Viswanath, Alan D Kaye

Faculty, Staff and Student Publications

Burning mouth syndrome is a condition characterized by a painful burning sensation in the oral mucosa lasting at least 3-6 months with no definitive etiology. The pathophysiology is not well understood, though there appears to be a connection with other neuropsychiatric conditions such as depression, anxiety, and mood disorders. We briefly discuss our experience with a patient who suffered from this conidtion and how it was treated with mandibular and maxillary nerve blocks after failing more conservative pharmacological options.

Effects Of Heterozygous Deletion Of Autism-Related Gene Cullin-3 In Mice, Qiang-Qiang Xia, Angela K Walker, Chenghui Song, Jing Wang, Anju Singh, James A Mobley, Zhong X Xuan, Jeffrey D Singer, Craig M Powell

Faculty, Staff and Student Publications

Autism Spectrum Disorder (ASD) is a developmental disorder in which children display repetitive behavior, restricted range of interests, and atypical social interaction and communication. CUL3, coding for a Cullin family scaffold protein mediating assembly of ubiquitin ligase complexes through BTB domain substrate-recruiting adaptors, has been identified as a high-risk gene for autism. Although complete knockout of Cul3 results in embryonic lethality, Cul3 heterozygous mice have reduced CUL3 protein, demonstrate comparable body weight, and display minimal behavioral differences including decreased spatial object recognition memory. In measures of reciprocal social interaction, Cul3 heterozygous mice behaved similarly to their wild-type littermates. In area …

Editorial: Ovarian Cancer-Targeted Medication: Parp Inhibitors, Anti-Angiogenic Drugs, Immunotherapy, And More, Zhi-Bin Wang, Dan Liu, Guang Lei, Zhao-Qian Liu, Nayiyuan Wu, Jing Wang

Faculty, Staff and Student Publications

No abstract provided.

Chromogranin B (Chgb) Is Dimorphic And Responsible For Dominant Anion Channels Delivered To Cell Surface Via Regulated Secretion, Gaya P Yadav, Haiyuan Wang, Joke Ouwendijk, Stephen Cross, Qiaochu Wang, Feng Qin, Paul Verkade, Michael X Zhu, Qiu-Xing Jiang

Faculty, Staff and Student Publications

Regulated secretion is conserved in all eukaryotes. In vertebrates granin family proteins function in all key steps of regulated secretion. Phase separation and amyloid-based storage of proteins and small molecules in secretory granules require ion homeostasis to maintain their steady states, and thus need ion conductances in granule membranes. But granular ion channels are still elusive. Here we show that granule exocytosis in neuroendocrine cells delivers to cell surface dominant anion channels, to which chromogranin B (CHGB) is critical. Biochemical fractionation shows that native CHGB distributes nearly equally in soluble and membrane-bound forms, and both reconstitute highly selective anion channels …

Hippo Signaling: Advances In Potential Therapeutic Targets For Sinoatrial Node Disorders, Julianna N Quinn, Jun Wang

Faculty, Staff and Student Publications

The cardiac conduction system (CCS) propagates electrical impulses, generates cardiac contractions, and ultimately ensures regular heartbeats. Disruptions within the CCS lead to cardiac arrhythmias, which are known to be the leading cause of cardiac-related mortalities in humans. The sinoatrial node (SAN) is a key component of the CCS and functions as the natural cardiac pacemaker to initiate normal cardiac impulse and conduction. The SAN is characterized by significant heterogeneity and contains various cell types, including pacemaker cells that spontaneously generate action potentials to maintain a constant beating rhythm. The fundamental Hippo signaling pathway plays a key role in heart development …

Molecular Mechanisms Of Osteosarcoma Metastasis And Possible Treatment Opportunities, Xinhui Du, Hua Wei, Boya Zhang, Bangmin Wang, Zhehuang Li, Lon Kai Pang, Ruiying Zhao, Weitao Yao

Faculty, Staff and Student Publications

In osteosarcoma patients, metastasis of the primary cancer is the leading cause of death. At present, management options to prevent metastasis are limited and non-curative. In this study, we review the current state of knowledge on the molecular mechanisms of metastasis and discuss promising new therapies to combat osteosarcoma metastasis. Genomic and epigenomic changes, metabolic reprogramming, transcription factors, dysregulation of physiologic pathways, and alterations to the tumor microenvironment are some of the changes reportedly involved in the regulation of osteosarcoma metastasis. Key factors within the tumor microenvironment include infiltrating lymphocytes, macrophages, cancer-associated fibroblasts, platelets, and extracellular components such as vesicles, …

Unveiling The Prognostic Implications Of Rplp1 Upregulation In Osteosarcoma, Xinhui Du, Hua Wei, Boya Zhang, Lon Kai Pang, Ruiying Zhao, Xu Dong Zhang, Weitao Yao

Faculty, Staff and Student Publications

Osteosarcoma, a malignant bone tumor characterized by a high rate of metastasis and poor survival, presents a critical need for identifying novel biomarkers associated with metastasis. In this study, we conducted an extensive analysis utilizing transcriptional and clinical data sourced from databases such as GEO, TCGA, CCLE, R2, and Xena. And we discovered that Ribosomal protein LP1 (RPLP1) ranked among the top upregulated genes in relation to osteosarcoma metastasis. Notably, RPLP1 exhibited significant expression in both osteosarcoma cell lines and patient samples. Moreover, multiple osteosarcoma studies revealed a strong correlation between RPLP1 overexpression and worse metastasis-free survival as well as …

Pseudohypoadrenalism, A Subclinical Cortisol Metabolism Disorder In Hyperuricemia, Ruixia Bao, Beibei Chen, Jujie Pan, Alexander Wang, Haiyang Yu, Qian Chen, Yi Zhang, Tao Wang

Faculty, Staff and Student Publications

Background: Hyperuricemia is a known risk factor of lipid metabolism disorder. However, the mechanisms have not been fully understood.

Methods: The serum samples from hyperuricemia subjects were used to analyze the correlation between serum uric acid and clinical characteristics. Hyperuricemia mice induced by potassium oxonate (PO) and adenine were used to explore glucocorticoid metabolism.

Results: In hyperuricemia patients, the levels of serum uric acid were positively correlated with the levels of γ-glutamyltransferase, associated with a cortisol metabolism disorder. In hyperuricemia state, the adrenal glands failed to respond to adrenocorticotropic hormone properly, leading to low cortisol, but not corticosterone production, and …

Frequentist Model Averaging For Analysis Of Dose-Response In Epidemiologic Studies With Complex Exposure Uncertainty, Deukwoo Kwon, Steven L Simon, F Owen Hoffman, Ruth M Pfeiffer

Faculty, Staff and Student Publications

In epidemiologic studies, association estimates of an exposure with disease outcomes are often biased when the uncertainties of exposure are ignored. Consequently, corresponding confidence intervals (CIs) will not have correct coverage. This issue is particularly problematic when exposures must be reconstructed from physical measurements, for example, for environmental or occupational radiation doses that were received by a study population for which radiation doses cannot be measured directly. To incorporate complex uncertainties in reconstructed exposures, the two-dimensional Monte Carlo (2DMC) dose estimation method has been proposed and used in various dose reconstruction efforts. The 2DMC method generates multiple exposure realizations from …

Antithrombin Activity Is Associated With Persistent Thromboinflammation And Mortality In Patients With Severe Covid-19 Illness, Amber Chen-Goodspeed, Goutham Dronavalli, Xu Zhang, Jeanette M Podbielski, Bela Patel, Katalin Modis, Bryan A Cotton, Charles E Wade, Jessica C Cardenas

Faculty, Staff and Student Publications

Introduction: Severe COVID-19 illness can lead to thrombotic complications, organ failure, and death. Antithrombin (AT) regulates thromboinflammation and is a key component of chemical thromboprophylaxis. Our goal was to examine the link between AT activity and responsiveness to thromboprophylaxis, markers of hypercoagulability, and inflammation among severe COVID-19 patients.

Methods: This was a single-center, prospective observational study enrolling SARS-CoV-2-positive patients admitted to the intensive care unit on prophylactic enoxaparin. Blood was collected daily for 7 days to assess AT activity and anti-factor Xa levels. Patient demographics, outcomes, and hospital laboratory results were collected. Continuous variables were compared using Mann-Whitney tests, and …

Metastatic Seminoma Presenting As Neck And Axillary Lymphadenopathy In An Elderly Man, Binoy Yohannan, Allen Omo-Ogboi, Johncy John Kachira, Syed H Jafri

Faculty, Staff and Student Publications

A man in his 60s presented with a gradual progressive right-sided neck mass. Initial core biopsy was inconclusive and he was treated with a short course of oral prednisone for presumed sarcoidosis. Two months later, the patient developed worsening dysphagia, hoarseness of voice, dyspnea, and weight loss. Physical examination revealed bilateral cervical and right axillary lymphadenopathy. A right axillary lymph node excisional biopsy was performed and immunohistochemistry was diffusely positive for OCT4, SALL4, CD117, PLAP, confirming the diagnosis of metastatic seminoma. He received three cycles of bleomycin, etoposide, and cisplatin; bleomycin was omitted for the fourth cycle due to concern …

Successful Treatment Of Scd-Related Priapism With Crizanlizumab: A Case Series, Modupe Idowu, Roberto L Garcia, Oluwatosin B Sule

Faculty, Staff and Student Publications

Priapism, an unwanted, painful, prolonged erection that is unrelated to sexual stimulation, is a common complication of sickle cell disease (SCD). Priapic events in SCD are stuttering, meaning they occur repeatedly with intervening periods of detumescence. Without health care intervention, repeated episodes can lead to erectile dysfunction. There are limited treatment options for SCD-related priapism and no approved targeted therapies. Crizanlizumab is a monoclonal antibody that binds to P-selectin and is used to reduce the frequency of vaso-occlusive crises in patients with SCD. Here, we report the cases of 3 patients with SCD-related priapism who were treated with crizanlizumab. All …

Novel Compound Heterozygous Variants In The Ush2a Gene Associated With Autosomal Recessive Retinitis Pigmentosa Without Hearing Loss, Yanxia Huang, Lamei Yuan, Guiyun He, Yanna Cao, Xiong Deng, Hao Deng

Faculty, Staff and Student Publications

Background: Retinitis pigmentosa (RP) is a group of progressive inherited retinal dystrophies characterized by the primary degeneration of rod photoreceptors and the subsequent loss of cone photoreceptors because of cell death. It is caused by different mechanisms, including inflammation, apoptosis, necroptosis, pyroptosis, and autophagy. Variants in the usherin gene (USH2A) have been reported in autosomal recessive RP with or without hearing loss. In the present study, we aimed to identify causative variants in a Han-Chinese pedigree with autosomal recessive RP.

Methods: A six-member, three-generation Han-Chinese family with autosomal recessive RP was recruited. A full clinical examination, whole exome …

Refractory Thrombocytopenia During Liver Transplantation Requiring Splenectomy, Ivana Wrobleski Wilder, Alexander Reskallah, Catherine M Pivalizza, John S Bynon, Evan G Pivalizza

Faculty, Staff and Student Publications

Although thrombocytopenia is common in end-stage liver disease, severe, refractory thrombocytopenia during liver transplantation is rare, and if immune based, usually presents months or years later. This case describes an adult woman in whom preoperative evaluation had not determined an immune-related cause of thrombocytopenia. Clot strength was dramatically impaired as measured by thrombelastography during the transplant. Following a lack of response to repeat platelet transfusions, splenectomy was performed after graft reperfusion with rapid temporal restoration of clot strength. This case shows a severe manifestation of perioperative thrombocytopenia during liver transplantation and clinically guided management when measured clot strength is too …