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Assessment Of Psycho-Emotional Symptoms In Cancer Patients In An Oncology-Palliative Care Department From Romania, Roxana Andreea Rahnea-Nita, Laura-Florentina Rebegea, Elena Gabriela Valcu, Mihaela Dumitru, Radu Valeriu Toma, Mihai Georgescu, Georgia Luiza Serbanescu, Maria Alexandra Barbu, Georgiana Bianca Constantin, Gabriela Rahnea-Nita Oct 2024

Assessment Of Psycho-Emotional Symptoms In Cancer Patients In An Oncology-Palliative Care Department From Romania, Roxana Andreea Rahnea-Nita, Laura-Florentina Rebegea, Elena Gabriela Valcu, Mihaela Dumitru, Radu Valeriu Toma, Mihai Georgescu, Georgia Luiza Serbanescu, Maria Alexandra Barbu, Georgiana Bianca Constantin, Gabriela Rahnea-Nita

Journal of Mind and Medical Sciences

Introduction. Anxiety and depression have an increased prevalence in cancer patients, especially in those in an advanced stage of the disease. These disorders have a major impact on the social life, existential concerns and quality of life of cancer patients. Materials and Methods. A number of 114 consecutive patients were included in the study (in a period of 2 weeks) who were screened for anxiety, depression and for other common symptoms, using Hospital Anxiety and Depression Scale (HADS) and Edmonton Symptom Assessment System (ESAS). Results. Regarding the age - the abnormal level of anxiety and depression: the percentage of patients …


Relationship Between Serum Estradiol Level, Ultrasound Follicle Count, Number Of Oocytes Retrieved And Their Influence On Ivf/Icsi Treatment Outcomes: A Retrospective Cross-Sectional Study, Bashar Haj Hamoud, Gilda Schmidt, Chiara Hipp, Meletios Pantelis Nigdelis, Romina Marina Sima, Liana Ples, Oana Denisa Balalau, Simona Lucia Baus, Georg Peter Breitbach, Gudrun Wagenpfeil, Erich Franz Solomayer, Tim Schmidt, Sebastian Findeklee Oct 2024

Relationship Between Serum Estradiol Level, Ultrasound Follicle Count, Number Of Oocytes Retrieved And Their Influence On Ivf/Icsi Treatment Outcomes: A Retrospective Cross-Sectional Study, Bashar Haj Hamoud, Gilda Schmidt, Chiara Hipp, Meletios Pantelis Nigdelis, Romina Marina Sima, Liana Ples, Oana Denisa Balalau, Simona Lucia Baus, Georg Peter Breitbach, Gudrun Wagenpfeil, Erich Franz Solomayer, Tim Schmidt, Sebastian Findeklee

Journal of Mind and Medical Sciences

This retrospective cross-sectional study investigates determinants on follicular development, oocyte retrieval and pregnancy outcome. It assessed the clinical practicability of monitoring parameters in relation to predict a successful treatment. Analysis of serum-estradiol (E2), sonographic follicle count, number of oocytes and optimizable parameters have therefore been carried out based on patient files from the IVF outpatient clinic at the Department of Gynecology, Obstetrics and Reproductive Medicine, Homburg/Saar, Germany. Equidirectional connection occurred between serum-E2, sonographic follicle count and number of oocytes (p < 0.001). There was no significant difference between sonographic and punctured follicle count (p = 0.428), but between sonographic/punctured follicle count and number of oocytes obtained (p < 0.01). Increasing endometrial thickness was associated with increasing serum-E2 (p = 0.003) and number of oocytes (p < 0.001), but not with the follicle count (p > 0.05). Additionally, age was inversely associated with sonographic follicle count and number of oocytes (p < 0.001) but not with E2 (p > 0.05). BMI, nicotine and stimulation …


Socio-Economic Disparities In Prenatal Prognosis And Intervention Accessibility, Simona Raluca Iacoban, Madalina Piron Dumitrascu, Camil Laurentiu Bohiltea, Ioan Dumitru Suciu, Silviu Cristian Voinea, Nicolae Suciu Oct 2024

Socio-Economic Disparities In Prenatal Prognosis And Intervention Accessibility, Simona Raluca Iacoban, Madalina Piron Dumitrascu, Camil Laurentiu Bohiltea, Ioan Dumitru Suciu, Silviu Cristian Voinea, Nicolae Suciu

Journal of Mind and Medical Sciences

Objectives. This study aimed to assess the impact of socio-economic factors on prenatal care accessibility and outcomes and to evaluate the effectiveness of specialized integrative prenatal care in mitigating these disparities. Materials and Methods. A prospective cohort study was conducted between 2020 and 2023 in Bucharest, Romania, involving 100 pregnant women. Participants were equally divided into two groups that received standard and specialized prenatal care. Data were collected through structured interviews, medical record reviews, and standardized questionnaires at multiple time points during pregnancy and postpartum. Results. Women receiving integrative care had longer gestation periods (37.8 vs. 37.6 weeks), higher average …


Postoperative Pain Management In The Enhanced Recovery After Surgery (Eras) For Emergency Laparoscopic Cholecystectomy, Antonio Mihai Istrate, Dragos Serban, Dan Dumitrescu, Corneliu Tudor, Laurentiu Simion, Vlad Denis Constantin, Ciprian Tanasescu, Dan Giorgian Bratu, Bogdan Mihai Cristea, Catalin Cicerone Grigorescu, Ana Maria Dascalu Oct 2024

Postoperative Pain Management In The Enhanced Recovery After Surgery (Eras) For Emergency Laparoscopic Cholecystectomy, Antonio Mihai Istrate, Dragos Serban, Dan Dumitrescu, Corneliu Tudor, Laurentiu Simion, Vlad Denis Constantin, Ciprian Tanasescu, Dan Giorgian Bratu, Bogdan Mihai Cristea, Catalin Cicerone Grigorescu, Ana Maria Dascalu

Journal of Mind and Medical Sciences

Introduction. Enhanced recovery after surgery (ERAS) is a new patient-centered concept that aims to deliver high-quality perioperative care to surgical patients. This study was performed to compare the effectiveness of the pain management measures in an ERAS-protocol versus the traditional approach of postoperative pain. Materials and Methods. A comparative prospective study was performed on 50 patients admitted in the Fourth General Surgery of University Emergency Hospital of Bucharest between 2022 and 2024, with the diagnosis of acute cholecystitis, undergoing emergency laparoscopic cholecystectomy. The patients were randomly assigned into two study groups, an ERAS-group and a Traditional group, according to the …


Survival Prognostic Factors And Molecular Aspects In Extremity Soft Tissue Sarcoma, Bogdan Serban, Eugen Radu, Adrian Cursaru, Bogdan Stefan Cretu, Sergiu Andrei Iordache, Madalina Cirnu, Cosmin Florentin Niculae, Cătălin Florin Cîrstoiu Oct 2024

Survival Prognostic Factors And Molecular Aspects In Extremity Soft Tissue Sarcoma, Bogdan Serban, Eugen Radu, Adrian Cursaru, Bogdan Stefan Cretu, Sergiu Andrei Iordache, Madalina Cirnu, Cosmin Florentin Niculae, Cătălin Florin Cîrstoiu

Journal of Mind and Medical Sciences

Soft tissue sarcomas are defined as relatively rare, wide-ranging mesenchymal tumors that present several forms of aggressive behavior. In order to improve the therapeutic result and thus the patient's prognosis, reliable diagnostic and evaluation tools are needed, capable of establishing the evolutive pattern of each patient. Materials and Methods. An analytical observational study was conducted in the period 2016-2023 in the Orthopedics Department of the Bucharest University Emergency Hospital, on patients diagnosed with soft tissue sarcoma. Data such as sex, age, site, size, depth, histotype, grade and margin status, vessel or bone involvement, adenopathies, adjuvant therapy, clinical findings, etc., were …


Current Principles For The Surgical Treatment Of Intrahepatic Cholangiocarcinoma, Catalin Savin, Luiza Tarca, Irina Balescu, Sorin Petrea, Bogdan Gaspar, Lucian Pop, Valentin Varlas, Adrian Hasegan, Gabriel Petre Gorecki, Cristina Martac, Marilena Stoian, Cristian Balalau, Nicolae Bacalbasa Oct 2024

Current Principles For The Surgical Treatment Of Intrahepatic Cholangiocarcinoma, Catalin Savin, Luiza Tarca, Irina Balescu, Sorin Petrea, Bogdan Gaspar, Lucian Pop, Valentin Varlas, Adrian Hasegan, Gabriel Petre Gorecki, Cristina Martac, Marilena Stoian, Cristian Balalau, Nicolae Bacalbasa

Journal of Mind and Medical Sciences

Intrahepatic cholangiocarcinoma is one of the most aggressive forms of cancer. It is usually diagnosed in advanced stages of the disease, mainly because it is asymptomatic for a long time after the onset. Consequently, intrahepatic cholangiocarcinoma still represents an important problem of diagnosis and treatment. In the multidisciplinary treatment of these patients, oncological surgery is essential, as the accuracy of resection is one of the most important prognostic factors for the long-term results of these patients. Therefore, there has been a continuing concern to improve surgical techniques, with the aim of maximizing the chances of achieving the best possible long-term …


Artificial Intelligence In Ovarian Cancers- From Diagnosis To Treatment; A Literature Review, Cristina Bucur, Irina Balescu, Sorin Petrea, Bogdan Gaspar, Lucian Pop, Valentin Varlas, Marilena Stoian, Cristian Balalau, Nicolae Bacalbasa Oct 2024

Artificial Intelligence In Ovarian Cancers- From Diagnosis To Treatment; A Literature Review, Cristina Bucur, Irina Balescu, Sorin Petrea, Bogdan Gaspar, Lucian Pop, Valentin Varlas, Marilena Stoian, Cristian Balalau, Nicolae Bacalbasa

Journal of Mind and Medical Sciences

Ovarian cancer remains the most lethal gynecological malignancy due to challenges in early detection stemming from a lack of reliable biomarkers. Despite this, various laboratory tests are commonly employed in clinical practice, some showing diagnostic and prognostic promise for ovarian cancer. This review aims to synthesize current literature to delineate the role of artificial intelligence (AI) in both the diagnosis—from laboratory tests to imaging—and treatment of ovarian cancers. Thus, the epidemiology, risk factors, pathology, screening methods, as well as the integration of AI in the diagnosis of ovarian cancer (AI based on both blood biomarkers and imaging-based ovarian cancer detection) …


Acute Syphilitic Posterior Placoid Chorioretinopathy: A Case Report, Kendra R. Null Od, Danielle E. Toms Od, Elizabeth M. Phillips Od, Candice A. Law Od, Ms Oct 2024

Acute Syphilitic Posterior Placoid Chorioretinopathy: A Case Report, Kendra R. Null Od, Danielle E. Toms Od, Elizabeth M. Phillips Od, Candice A. Law Od, Ms

Optometric Clinical Practice

Abstract

Background: Acute syphilitic posterior placoid chorioretinopathy is a rare manifestation of ocular syphilis that can significantly impact the patient’s vision. However, it has been shown to have a good prognosis with the appropriate diagnosis and treatment of the underlying systemic syphilis infection. In addition to discussing the details of the case, this report also highlights the systemic staging, diagnosis, and treatment of syphilis. Case Report: This case features a 60-year-old Caucasian male diagnosed and treated for acute syphilitic posterior placoid chorioretinopathy after a recent diagnosis of syphilis. Conclusion: With the incidence rates of syphilis infections increasing, it is imperative …


Ocular Myasthenia Gravis; A Case Report, Amy Garbo Maxey Od, Kristin Wilson Od Oct 2024

Ocular Myasthenia Gravis; A Case Report, Amy Garbo Maxey Od, Kristin Wilson Od

Optometric Clinical Practice

Abstract

Background: Myasthenia gravis (MG) is an autoimmune disease disorder that affects the skeletal muscles causing increased fatigability and weakness. When it affects the ocular muscles only, it is known as ocular myasthenia gravis (OMG). Patients with OMG will often have symptoms of diplopia and ptosis, which will be worse towards the end of the day. This case report will discuss the common symptoms of OMG as well as the appropriate treatment and management. It will also review the diagnostic tests used to aid in the diagnosis of OMG and discuss the prognosis of OMG. Case Report: A 67-year-old male …


Inpatient Falls: Epidemiology, Risk Assessment, And Prevention Measures. A Narrative Review, Taylor Locklear, Jeannie Kontos, Callaham A. Brock, Alexander B. Holland, Rachel Hemsath, Anna Deal, Shannon Leonard, Carsten Steinmetz, Saptarshi Biswas Oct 2024

Inpatient Falls: Epidemiology, Risk Assessment, And Prevention Measures. A Narrative Review, Taylor Locklear, Jeannie Kontos, Callaham A. Brock, Alexander B. Holland, Rachel Hemsath, Anna Deal, Shannon Leonard, Carsten Steinmetz, Saptarshi Biswas

HCA Healthcare Journal of Medicine

Patient falls are a common inpatient dilemma and comprise the largest category of preventable adverse events in hospitalized patients. These events place a clinical burden on the patient, such as increased morbidity and reduced quality of life, in addition to an economic burden on the hospital system. Fall prevention strategies have the opportunity to decrease inpatient health care costs and length of stay. Several risk factors have been identified that contribute to inpatient falls and several strategies have been identified to minimize this risk. These risk factors are typically characterized as intrinsic and extrinsic factors. Intrinsic factors include characteristics such …


Nutritional Indicators Of Bone Nonunion: A Systematic Review, Eleanor Christianson, Margaret Thomas, Sheila Sprague, Jessica Rivera, Andrew Chapple, Robert Zura Oct 2024

Nutritional Indicators Of Bone Nonunion: A Systematic Review, Eleanor Christianson, Margaret Thomas, Sheila Sprague, Jessica Rivera, Andrew Chapple, Robert Zura

School of Medicine Faculty Publications

Background/Objectives: Bone nonunion remains a clinical challenge in orthopedic surgery with significant impacts on mental and physical wellbeing for patients. There are several previously established risk factors of nonunion that are connected to nutrition, but this has yet to be substantially explored. This review seeks to assess all studies that present associations between nutrition and nonunion to understand the potential for clinical relevance in nonunion prevention. Methods: Case–control and cohort studies comparing nonunion risk based on nutritional factors were gathered through PubMed in July 2024. Data were extracted with dual verification through Covidence and assessed for bias using the Newcastle–Ottawa …


Takotsubo Syndrome: An International Expert Consensus Report On Practical Challenges And Specific Conditions (Part-2: Specific Entities, Risk Stratification And Challenges After Recovery), Shams Y-Hassan, Marija Polovina, Servet Altay, Alexandre Mebazaa, Mehmet Birhan Yilmaz, Yuri Lopatin, Mamas A Mamas, Robert J Gil, Ritu Thamman, Abdallah Almaghraby, Biykem Bozkurt, Gani Bajraktari, Thomas Fink, Vassil Traykov, Stephane Manzo-Silberman, Ulvi Mirzoyev, Sekib Sokolovic, Zviad V Kipiani, Cecilia Linde, Petar M Seferovic Oct 2024

Takotsubo Syndrome: An International Expert Consensus Report On Practical Challenges And Specific Conditions (Part-2: Specific Entities, Risk Stratification And Challenges After Recovery), Shams Y-Hassan, Marija Polovina, Servet Altay, Alexandre Mebazaa, Mehmet Birhan Yilmaz, Yuri Lopatin, Mamas A Mamas, Robert J Gil, Ritu Thamman, Abdallah Almaghraby, Biykem Bozkurt, Gani Bajraktari, Thomas Fink, Vassil Traykov, Stephane Manzo-Silberman, Ulvi Mirzoyev, Sekib Sokolovic, Zviad V Kipiani, Cecilia Linde, Petar M Seferovic

Faculty, Staff and Students Publications

Takotsubo syndrome (TTS) still remains as an enigmatic phenomenon. In particular, long-term challenges (including clinical recurrence and persistent symptoms) and specific entities in the setting of TTS have been the evolving areas of interest. On the other hand, a significant gap still exists regarding the proper risk-stratification of this phenomenon in the short and long terms. The present paper, the second part (part-2) of the consensus report, aims to discuss less well-known aspects of TTS including specific entities, challenges after recovery and risk-stratification.


Tumor-Associated Tractography Derived From High-Angular-Resolution Q-Space Mri May Predict Patterns Of Cellular Invasion In Glioblastoma, Owen P Leary, John P Zepecki, Mattia Pizzagalli, Steven A Toms, David D Liu, Yao Ding, Renjie He, Caroline Chung, Clifton D Fuller, Jerrold L Boxerman, Nikos Tapinos, Richard J Gilbert Oct 2024

Tumor-Associated Tractography Derived From High-Angular-Resolution Q-Space Mri May Predict Patterns Of Cellular Invasion In Glioblastoma, Owen P Leary, John P Zepecki, Mattia Pizzagalli, Steven A Toms, David D Liu, Yao Ding, Renjie He, Caroline Chung, Clifton D Fuller, Jerrold L Boxerman, Nikos Tapinos, Richard J Gilbert

Faculty, Staff and Student Publications

BACKGROUND: The invasion of glioblastoma cells beyond the visible tumor margin depicted by conventional neuroimaging is believed to mediate recurrence and predict poor survival. Radiomic biomarkers that are associated with the direction and extent of tumor infiltration are, however, non-existent.

METHODS: Patients from a single center with newly diagnosed glioblastoma (

RESULTS: In the principal enrollment cohort of patients with glioblastoma, all cases displayed tractography patterns with tumor-intersecting tract bundles extending into brain parenchyma, a phenotype which was reproduced in PDX mice as well as in a larger comparison cohort of glioblastoma patients (

CONCLUSIONS: QSI discriminates tumor-specific patterns of …


Enhancing Surgical Guidance: Deep Learning-Based Liver Vessel Segmentation In Real-Time Ultrasound Video Frames, Muhammad Awais, Mais Al Taie, Caleb S O'Connor, Austin H Castelo, Belkacem Acidi, Kristy K Brock Oct 2024

Enhancing Surgical Guidance: Deep Learning-Based Liver Vessel Segmentation In Real-Time Ultrasound Video Frames, Muhammad Awais, Mais Al Taie, Caleb S O'Connor, Austin H Castelo, Belkacem Acidi, Kristy K Brock

Faculty, Staff and Student Publications

Background/objectives: In the field of surgical medicine, the planning and execution of liver resection procedures present formidable challenges, primarily attributable to the intricate and highly individualized nature of liver vascular anatomy. In the current surgical milieu, intraoperative ultrasonography (IOUS) has become indispensable; however, traditional 2D ultrasound imaging's interpretability is hindered by noise and speckle artifacts. Accurate identification of critical structures for preservation during hepatectomy requires advanced surgical skills.

Methods: An AI-based model that can help detect and recognize vessels including the inferior vena cava (IVC); the right (RHV), middle (MHV), and left (LVH) hepatic veins; the portal vein (PV) and …


Comparison Of Sternotomy Access Versus Thoracotomy Access In The Surgical Treatment Of Aortic Coarctation: A Propensity Score-Matched Study, Ilya A. Soynov, Ksenya A. Rzayeva, Yuriy N. Gorbatykh, Yuriy Yu. Kulyabin, Artem V. Gorbatykh, Ilya A. Velyukhanov, Nataliya R. Nichay, Serezhan. Manukian, Saihuna A. Magbulova, Aleksey N. Arkhipov, Aleksander V. Bogachev-Prokophiev Oct 2024

Comparison Of Sternotomy Access Versus Thoracotomy Access In The Surgical Treatment Of Aortic Coarctation: A Propensity Score-Matched Study, Ilya A. Soynov, Ksenya A. Rzayeva, Yuriy N. Gorbatykh, Yuriy Yu. Kulyabin, Artem V. Gorbatykh, Ilya A. Velyukhanov, Nataliya R. Nichay, Serezhan. Manukian, Saihuna A. Magbulova, Aleksey N. Arkhipov, Aleksander V. Bogachev-Prokophiev

Journal of the Saudi Heart Association

Background: The search for the "Holy Grail" of surgical repair for aortic coarctation involves finding an access and correction method that successfully and consistently avoids aortic recoarctation and arterial hypertension. The controversy persists as there is still no consensus on the best surgical approach and technique to achieve these objectives. Objective: The objective of this study is to compare sternotomy and left thoracotomy as surgical techniques for treating patients with aortic coarctation and hypoplasia of the distal aortic arch. Methods: From January 2008 to December 2020, 103 patients (21 %) were performed using an extended oblique anastomosis. They were divided …


Anesthesia For Bronchoscopy-An Update, Basavana Goudra, Lalitha Sundararaman, Prarthna Chandar, Michael Green Oct 2024

Anesthesia For Bronchoscopy-An Update, Basavana Goudra, Lalitha Sundararaman, Prarthna Chandar, Michael Green

Department of Anesthesiology Faculty Papers

The field of interventional pulmonology has grown immensely and is increasingly recognized as a subspecialty. The new procedures introduced in the last decade pose unique challenges, and anesthesiologists need to readapt to their specific demands. In this review, we extensively discuss the pathophysiology, technical aspects, preprocedural preparation, anesthetic management, and postprocedural challenges of many new procedures such as navigational bronchoscopy, endobronchial valve deployment, and bronchial thermoplasty. Majority of these procedures are performed under general anesthesia with an endotracheal tube. Total intravenous anesthesia with rocuronium as a muscle relaxant seems to be the standard US practice. The easy availability and proven …


Sociodemographic, Lifestyle, And Medical Factors Associated With Calculated Free Testosterone Concentrations In Men: Individual Participant Data Meta-Analyses, Robert J Adams, Christie M Ballantyne, Douglas C Bauer, Shalender Bhasin, Mary L Biggs, Peggy M Cawthon, David J Couper, Adrian S Dobs, Leon Flicker, Graeme J Hankey, Anke Hannemann, Robin Wilkening, Sean A Martin, Alvin M Matsumoto, Claes Ohlsson, Terence W O'Neill, Eric S Orwoll, Molly M Shores, Antje Steveling, Thomas G Travison, Gary A Wittert, Frederick C W Wu, Leen Antonio, Dirk Vanderschueren, Bu B Yeap Oct 2024

Sociodemographic, Lifestyle, And Medical Factors Associated With Calculated Free Testosterone Concentrations In Men: Individual Participant Data Meta-Analyses, Robert J Adams, Christie M Ballantyne, Douglas C Bauer, Shalender Bhasin, Mary L Biggs, Peggy M Cawthon, David J Couper, Adrian S Dobs, Leon Flicker, Graeme J Hankey, Anke Hannemann, Robin Wilkening, Sean A Martin, Alvin M Matsumoto, Claes Ohlsson, Terence W O'Neill, Eric S Orwoll, Molly M Shores, Antje Steveling, Thomas G Travison, Gary A Wittert, Frederick C W Wu, Leen Antonio, Dirk Vanderschueren, Bu B Yeap

Faculty, Staff and Students Publications

Objective: Sociodemographic, lifestyle, and medical variables influence total testosterone (T) and sex hormone-binding globulin (SHBG) concentrations. The relationship between these factors and "free" T remains unclear. We examined 21 sociodemographic, lifestyle, and medical predictors influencing calculated free T (cFT) in community-dwelling men across ages.

Design: This is a cross-sectional analysis in 20 631 participants in the Androgens in Men Study.

Methods: Individual participant data (IPD) were provided by 9 cohorts. Total T was determined using mass spectrometry, SHBG using immunoassays, and cFT using the Vermeulen formula. Associations were analyzed using 2-stage random effects IPD meta-analyses.

Results: Cohort median ages ranged …


A Stronger Impact On Career Development For Early- And Mid-Career Faculty, Lindsey S Treviño Oct 2024

A Stronger Impact On Career Development For Early- And Mid-Career Faculty, Lindsey S Treviño

Faculty, Staff and Students Publications

Nuclear receptors are important in normal physiology and disease. Physicians and scientists who study nuclear receptors organize and attend conferences and symposia devoted to foundational and translational nuclear receptor research, but the field lacks a platform for early-stage investigators and aspiring leaders. In 2019, Zeynep Madak-Erdogan, Rebecca Riggins, and Matthew Sikora founded Nuclear Receptor (NR) Interdisciplinary Meeting for Progress And Collaboration Together (IMPACT, https://nrimpact.com), a collaborative group designed for early- and mid-career faculty who study nuclear receptors in any context or organism [1]. NR IMPACT addresses challenges for early- and mid-career faculty. Here, we review the progress of NR IMPACT …


Vizcnv: An Integrated Platform For Concurrent Phased Baf And Cnv Analysis With Trio Genome Sequencing Data, Michele G Mehaffey, James Paul Hwang, Shalini N Jhangiani, Sravya V Bhamidipati, Donna M Muzny, M Cecilia Poli, Sebastian Ochoa, Ivan K Chinn, Anna Linstrand, Jennifer E Posey, Richard A Gibbs, James R Lupski, Claudia M B Carvalho Oct 2024

Vizcnv: An Integrated Platform For Concurrent Phased Baf And Cnv Analysis With Trio Genome Sequencing Data, Michele G Mehaffey, James Paul Hwang, Shalini N Jhangiani, Sravya V Bhamidipati, Donna M Muzny, M Cecilia Poli, Sebastian Ochoa, Ivan K Chinn, Anna Linstrand, Jennifer E Posey, Richard A Gibbs, James R Lupski, Claudia M B Carvalho

Faculty, Staff and Students Publications

Background: Copy number variation (CNV) is a class of genomic Structural Variation (SV) that underlie genomic disorders and can have profound implications for health. Short-read genome sequencing (sr-GS) enables CNV calling for genomic intervals of variable size and across multiple phenotypes. However, unresolved challenges include an overwhelming number of false-positive calls due to systematic biases from non-uniform read coverage and collapsed calls resulting from the abundance of paralogous segments and repetitive elements in the human genome.

Methods: To address these interpretative challenges, we developed VizCNV. The VizCNV computational tool for inspecting CNV calls uses various data signal sources from sr-GS …


Lower Urinary Tract Symptoms, Depression And Sleep Problems; A Triple Whammy For Patients’ Health-Related Quality Of Life, Muhammad Salman, Amer Hayat Khan, Syed Azhar Syed Sulaiman, Jeffery David Hughes, Junaid Habib Khan, Yusra Habib Khan, Tauqeer Hussain Mallhi Oct 2024

Lower Urinary Tract Symptoms, Depression And Sleep Problems; A Triple Whammy For Patients’ Health-Related Quality Of Life, Muhammad Salman, Amer Hayat Khan, Syed Azhar Syed Sulaiman, Jeffery David Hughes, Junaid Habib Khan, Yusra Habib Khan, Tauqeer Hussain Mallhi

Bulletin of Faculty of Pharmacy Cairo University

Introduction: Lower urinary tract symptoms (LUTS) are characterized by voiding, storage and post-micturition symptoms. LUTS can have detrimental effects on various facets of patients’ quality of life. Therefore, this study was aimed to evaluate the association of LUTS with depression and sleep disturbances, and their impact on patients’ health-related quality of life (HRQOL).

Methods: A cross-sectional survey was conducted among a clinical sample of calcium channel blocker-users (n = 410), recruited via convenient sampling. Outcomes were assessed using validated Urdu translated instruments [LUTS: International Prostate Symptom Score; sleep problems: Jenkins sleep evaluation questionnaire (JSEQ); depression: Center for Epidemiologic Studies Short …


Developmental-Status-Aware Transcriptional Decomposition Establishes A Cell State Panorama Of Human Cancers, Yikai Luo, Han Liang Oct 2024

Developmental-Status-Aware Transcriptional Decomposition Establishes A Cell State Panorama Of Human Cancers, Yikai Luo, Han Liang

Faculty, Staff and Student Publications

Background: Cancer cells evolve under unique functional adaptations that unlock transcriptional programs embedded in adult stem and progenitor-like cells for progression, metastasis, and therapeutic resistance. However, it remains challenging to quantify the stemness-aware cell state of a tumor based on its gene expression profile.

Methods: We develop a developmental-status-aware transcriptional decomposition strategy using single-cell RNA-sequencing-derived tissue-specific fetal and adult cell signatures as anchors. We apply our method to various biological contexts, including developing human organs, adult human tissues, experimentally induced differentiation cultures, and bulk human tumors, to benchmark its performance and to reveal novel biology of entangled developmental signaling in …


Dna-Binding Proteins From Mbd Through Zf To Ben: Recognition Of Cytosine Methylation Status By One Arginine With Two Conformations, Xing Zhang, Robert M Blumenthal, Xiaodong Cheng Oct 2024

Dna-Binding Proteins From Mbd Through Zf To Ben: Recognition Of Cytosine Methylation Status By One Arginine With Two Conformations, Xing Zhang, Robert M Blumenthal, Xiaodong Cheng

Faculty, Staff and Student Publications

Maintenance methylation, of palindromic CpG dinucleotides at DNA replication forks, is crucial for the faithful mitotic inheritance of genomic 5-methylcytosine (5mC) methylation patterns. MBD proteins use two arginine residues to recognize symmetrically-positioned methyl groups in fully-methylated 5mCpG/5mCpG and 5mCpA/TpG dinucleotides. In contrast, C2H2 zinc finger (ZF) proteins recognize CpG and CpA, whether methylated or not, within longer specific sequences in a site- and strand-specific manner. Unmethylated CpG sites, often within CpG island (CGI) promoters, need protection by protein factors to maintain their hypomethylated status. Members of the BEN domain proteins bind CGCG or CACG elements within CGIs to regulate gene …


Prenatal Opioid And Alcohol Exposures: Association With Altered Placental Serotonin Transporter Structure And/Or Expression, Armine Darbinyan, Laura Goetzl, Michael E Selzer Oct 2024

Prenatal Opioid And Alcohol Exposures: Association With Altered Placental Serotonin Transporter Structure And/Or Expression, Armine Darbinyan, Laura Goetzl, Michael E Selzer

Faculty, Staff and Student Publications

Fetal exposures to many drugs of abuse, e.g., opioids and alcohol (EtOH), are associated with adverse neurodevelopmental problems in early childhood, including abnormalities in activity of the serotonin (5HT) transporter (SERT), which transports 5HT across the placenta. Little is known about the effects of these drugs on SERT expression. Pregnant women who used EtOH or opioids were compared to gestational age-matched controls using a structured questionnaire to determine prenatal substance exposure. Following elective pregnancy termination, placental membranous vesicles and exosomes were prepared from first and second trimester human placentas. Changes in EtOH- or opioid-exposed placental SERT expression and modifications were …


Effective Deep Brain Stimulation For Obsessive-Compulsive Disorder After Failed Anterior Capsulotomy: Illustrative Cases, Garrett P Banks, Gabriel Reyes, Huy Dang, Katherine E Kabotyanski, Alyssa G Hertz, Sarah R Heilbronner, Nicole Provenza, Eric A Storch, Wayne K Goodman, Sameer A Sheth Oct 2024

Effective Deep Brain Stimulation For Obsessive-Compulsive Disorder After Failed Anterior Capsulotomy: Illustrative Cases, Garrett P Banks, Gabriel Reyes, Huy Dang, Katherine E Kabotyanski, Alyssa G Hertz, Sarah R Heilbronner, Nicole Provenza, Eric A Storch, Wayne K Goodman, Sameer A Sheth

Faculty, Staff and Students Publications

BACKGROUND: Obsessive-compulsive disorder (OCD) is a psychiatric condition characterized by recurrent, unwanted thoughts (obsessions) and repetitive behaviors (compulsions) performed to relieve distress related to the obsessions. For patients with severe illness refractory to first-line pharmacotherapy and psychotherapy, neurosurgical treatments such as deep brain stimulation (DBS) and stereotactic lesioning are an option. The choice between DBS and lesioning is often driven by patient preference, but these options are not mutually exclusive. Here, the authors highlight the success of one surgical therapy (DBS) after the failure of another (lesioning).

OBSERVATIONS: Two patients with severe, treatment-refractory OCD underwent DBS lead implantation targeting the …


A Genome-Wide Association Study Identifies Genetic Determinants Of Hemoglobin Glycation Index With Implications Across Sex And Ethnicity, John S. House, Joseph H. Breeyear, Farida S. Akhtari, Violet Evans, John B. Buse, James Hempe, Alessandro Doria, Josyf C. Mychaleckyi, Vivian Fonseca, Mengyao Shi, Changwei Li, Shuqian Liu, Tanika N. Kelly, Daniel Rotroff, Alison A. Motsinger-Reif Oct 2024

A Genome-Wide Association Study Identifies Genetic Determinants Of Hemoglobin Glycation Index With Implications Across Sex And Ethnicity, John S. House, Joseph H. Breeyear, Farida S. Akhtari, Violet Evans, John B. Buse, James Hempe, Alessandro Doria, Josyf C. Mychaleckyi, Vivian Fonseca, Mengyao Shi, Changwei Li, Shuqian Liu, Tanika N. Kelly, Daniel Rotroff, Alison A. Motsinger-Reif

School of Medicine Faculty Publications

Introduction: We investigated the genetic determinants of variation in the hemoglobin glycation index (HGI), an emerging biomarker for the risk of diabetes complications. Methods: We conducted a genome-wide association study (GWAS) for HGI in the Action to Control Cardiovascular Risk in Diabetes (ACCORD) trial (N = 7,913) using linear regression and additive genotype encoding on variants with minor allele frequency greater than 3%. We conducted replication analyses of top findings in the Atherosclerosis Risk in Communities (ARIC) study with inverse variance-weighted meta-analysis. We followed up with stratified GWAS analyses by sex and self-reported race. Results: In ACCORD, we identified single …


Right Heart Failure After Tricvalve Implantation For Symptomatic Torrential Tricuspid Regurgitation: A Case Report, King Sum Luk, Chun Kit Wong Oct 2024

Right Heart Failure After Tricvalve Implantation For Symptomatic Torrential Tricuspid Regurgitation: A Case Report, King Sum Luk, Chun Kit Wong

Journal of the Hong Kong College of Cardiology

Patients with symptomatic torrential tricuspid regurgitation (TR) presenting with right heart failure are associated with significant morbidity and mortality. While medical therapy is often ineffective, the perioperitive risks of surgical correction are high. Transcatheter TricValve implantation is one of the evolving therapeutic options for this condition with many unanswered questions. We reported a case of life-threatening right heart failure after transcatheter TricValve implantation despite initial improvement. Important considerations of TricValve implantation are discussed. In particular, careful patient selection and evaluation with perioperative echocardiogram are of paramount importance.


Ten Challenges And Opportunities In Computational Immuno-Oncology, Riyue Bao, Alan Hutson, Anant Madabhushi, Vanessa D Jonsson, Spencer R Rosario, Elana J Fertig, Lyndsay Harris, Jennifer Altreuter, Qingrong Chen, James Dignam, Andrew J Gentles, Edgar Gonzalez-Kozlova, Sacha Gnjatic, Erika Kim, Mark Long, Martin Morgan, Eytan Ruppin, David Van Valen, Hong Zhang, Natalie Vokes, Daoud Meerzaman, Song Liu, Eliezer M Van Allen, Yi Xing Oct 2024

Ten Challenges And Opportunities In Computational Immuno-Oncology, Riyue Bao, Alan Hutson, Anant Madabhushi, Vanessa D Jonsson, Spencer R Rosario, Elana J Fertig, Lyndsay Harris, Jennifer Altreuter, Qingrong Chen, James Dignam, Andrew J Gentles, Edgar Gonzalez-Kozlova, Sacha Gnjatic, Erika Kim, Mark Long, Martin Morgan, Eytan Ruppin, David Van Valen, Hong Zhang, Natalie Vokes, Daoud Meerzaman, Song Liu, Eliezer M Van Allen, Yi Xing

Faculty, Staff and Student Publications

Immuno-oncology has transformed the treatment of cancer, with several immunotherapies becoming the standard treatment across histologies. Despite these advancements, the majority of patients do not experience durable clinical benefits, highlighting the imperative for ongoing advancement in immuno-oncology. Computational immuno-oncology emerges as a forefront discipline that draws on biomedical data science and intersects with oncology, immunology, and clinical research, with the overarching goal to accelerate the development of effective and safe immuno-oncology treatments from the laboratory to the clinic. In this review, we outline 10 critical challenges and opportunities in computational immuno-oncology, emphasizing the importance of robust computational strategies and interdisciplinary …


Biomarker Potential Of Nuclear Nrf2 Activation In The Abc Subtype Of Diffuse Large B‑Cell Lymphoma, Chin-Mu Hsu, Shih-Yu Kao, Chia-Hung Yen, Chi-En Hsiao, Shih-Feng Cho, Hui-Ching Wang, Tsung-Jang Yeh, Jeng-Shiun Du, Min-Hong Wang, Tzu-Yu Hsieh, Samuel Yien Hsiao, Yuhsin Tsai, Li-Chuan Hung, Yi-Chang Liu, Kung-Chao Chang, Hui-Hua Hsiao Oct 2024

Biomarker Potential Of Nuclear Nrf2 Activation In The Abc Subtype Of Diffuse Large B‑Cell Lymphoma, Chin-Mu Hsu, Shih-Yu Kao, Chia-Hung Yen, Chi-En Hsiao, Shih-Feng Cho, Hui-Ching Wang, Tsung-Jang Yeh, Jeng-Shiun Du, Min-Hong Wang, Tzu-Yu Hsieh, Samuel Yien Hsiao, Yuhsin Tsai, Li-Chuan Hung, Yi-Chang Liu, Kung-Chao Chang, Hui-Hua Hsiao

SKMC Student Presentations and Publications

Diffuse large B-cell lymphoma (DLBCL) is an aggressive B-cell lymphoma characterized by distinct subtypes and heterogeneous treatment outcomes. Oxidative stress and the dysregulation of related regulatory genes are prevalent in DLBCL, prompting an investigation into the nuclear factor erythroid 2-related factor 2 (Nrf2)-kelch-like ECH-associated protein 1 (Keap1) signaling pathway and associated genes. The present study assessed pathological specimens and clinical data from 43 newly diagnosed patients with DLBCL, comparing the associations and correlations between the expression of Nrf2, Keap1, microtubule-associated protein 1 light chain 3β (LC3B) and nitrotyrosine and the activated B-cell (ABC) and germinal center B-cell (GCB) subtypes of …


A Call To Action: The Shea Research Agenda To Combat Healthcare-Associated Infections, Barbara I Braun, Vincent Chi-Chung Cheng, Kathleen Chiotos, Peggy Douglas, Shruti K Gohil, Sara C Keller, Eili Y Klein, Sarah L Krein, Eric T Lofgren, Katreena Merrill, Rebekah W Moehring, Elizabeth Monsees, Luci Perri, Felicia Scaggs Huang, Mark A Shelly, Felicia Skelton, Emily S Spivak, Pranavi V Sreeramoju, Katie J Suda, Joseph Y Ting, Gregory David Weston, Mohamed H Yassin, Matthew J Ziegler, Lona Mody Oct 2024

A Call To Action: The Shea Research Agenda To Combat Healthcare-Associated Infections, Barbara I Braun, Vincent Chi-Chung Cheng, Kathleen Chiotos, Peggy Douglas, Shruti K Gohil, Sara C Keller, Eili Y Klein, Sarah L Krein, Eric T Lofgren, Katreena Merrill, Rebekah W Moehring, Elizabeth Monsees, Luci Perri, Felicia Scaggs Huang, Mark A Shelly, Felicia Skelton, Emily S Spivak, Pranavi V Sreeramoju, Katie J Suda, Joseph Y Ting, Gregory David Weston, Mohamed H Yassin, Matthew J Ziegler, Lona Mody

Faculty, Staff and Students Publications

No abstract provided.


Interpreting The Biological Effects Of Protons As A Function Of Physical Quantity: Linear Energy Transfer Or Microdosimetric Lineal Energy Spectrum?, Fada Guan, Lawrence Bronk, Matthew Kerr, Yuting Li, Leslie A Braby, Xiaochun Wang, Clifford Stephan, David R Grosshans, Radhe Mohan Oct 2024

Interpreting The Biological Effects Of Protons As A Function Of Physical Quantity: Linear Energy Transfer Or Microdosimetric Lineal Energy Spectrum?, Fada Guan, Lawrence Bronk, Matthew Kerr, Yuting Li, Leslie A Braby, Xiaochun Wang, Clifford Stephan, David R Grosshans, Radhe Mohan

Faculty, Staff and Student Publications

The choice of appropriate physical quantities to characterize the biological effects of ionizing radiation has evolved over time coupled with advances in scientific understanding. The basic hypothesis in radiation dosimetry is that the energy deposited by ionizing radiation initiates all the consequences of exposure in a biological sample (e.g., DNA damage, reproductive cell death). Physical quantities defined to characterize energy deposition have included dose, a measure of the mean energy imparted per unit mass of the target, and linear energy transfer (LET), a measure of the mean energy deposition per unit distance that charged particles traverse in a medium. The …