Diseases Commons^™

Comprehensive Assessment Reveals Numerous Clinical And Neurophysiological Differences Between Mecp2-Allelic Disorders, Davut Pehlivan, Chengjun Huang, Holly K Harris, Christine Coquery, Aditya Mahat, Mirjana Maletic-Savatic, Laurence Mignon, Sukru Aras, Daniel G Glaze, Charles S Layne, Leonardo Sahelijo, Huda Y Zoghbi, Matthew J Mcginley, Bernhard Suter

Faculty, Staff and Students Publications

OBJECTIVE: Rett syndrome (RTT) and MECP2 duplication syndrome (MDS) result from under- and overexpression of MECP2, respectively. Preclinical studies using genetic-based treatment showed robust phenotype recovery for both MDS and RTT. However, there is a risk of converting MDS to RTT, or vice versa, if accurate MeCP2 levels are not achieved. The aim of this study was to identify biomarkers distinguishing RTT from MDS.

MATERIALS AND METHODS: We prospectively enrolled 11 MDS and 6 male RTT like (MRL) individuals for a panel of clinical and neurophysiological assessments over two visits, 8-10 months apart.

RESULTS: We identified numerous clinical and physiological …

American Cochlear Implant Alliance Position Statement On Newborn Congenital Cytomegalovirus Screening, Megan Honor Pesch, Kevin David Brown, Amy L Birath, Gail J Demmler-Harrison, Cailtin Sapp, Anne Morgan Selleck, Alex D Sweeney

Faculty, Staff and Students Publications

It is estimated that 1 in every 200 US newborns has congenital cytomegalovirus (cCMV). Delayed identification of cCMV in newborns precludes timely intervention to mitigate sequelae of the infection such as hearing loss and other neurological complications. Newborn testing for cCMV enables appropriate diagnosis and intervention by multidisciplinary teams to properly manage the immediate sequelae of cCMV, avoid unnecessary additional testing that can result from delayed diagnosis, and monitor for future complications. It is the position of the American Cochlear Implant Alliance, the National CMV Foundation, and the American Academy of Otolaryngology-Head and Neck Surgery that universal newborn cCMV screening …

Case Studies In Heritable Vascular Disease: Proceedings Of The Uthealth Houston Multidisciplinary Aortic Conference, Milan Jaiswal, Lucas Ribe, Rana O Afifi, Yuki Ikeno, Alana C Cecchi, Bihong Zhao, Akiko Tanaka, Gustavo S Oderich, L Maximilian Buja, Dianna M Milewicz, Siddharth K Prakash, Anthony L Estrera

Faculty, Staff and Student Publications

Heritable thoracic aortic disease is caused by dominantly inherited mutations in more than a dozen genes, including TGFB2 mutations that cause Loeys-Dietz syndrome. McGovern Medical School at UTHealth Houston convenes a regular conference that includes cardiothoracic and vascular surgeons, cardiologists, geneticists, radiologists, and pathologists to formulate multidisciplinary approaches for the management of complex heritable thoracic aortic disease cases. In this report, we highlight the unique management of individuals with distinct presentations of Loeys-Dietz syndrome owing to TGFB2 mutations.

Hybrid Versus Vaccine Immunity Of Mrna-1273 Among People Living With Hiv In East And Southern Africa: A Prospective Cohort Analysis From The Multicentre Covpn 3008 (Ubuntu) Study, Nigel Garrett, Asa Tapley, Aaron Hudson, Sufia Dadabhai, Bo Zhang, Nyaradzo M Mgodi, Jessica Andriesen, Azwidihwi Takalani, Leigh H Fisher, Jia Jin Kee, Craig A Magaret, Manuel Villaran, John Hural, Erica Andersen-Nissen, Guido Ferarri, Maurine D Miner, Bert Le Roux, Eduan Wilkinson, Richard Lessells, Tulio De Oliveira, Jackline Odhiambo, Parth Shah, Laura Polakowski, Margaret Yacovone, Taraz Samandari, Zvavahera Chirenje, Peter James Elyanu, Joseph Makhema, Ethel Kamuti, Harriet Nuwagaba-Biribonwoha, Sharlaa Badal-Faesen, William Brumskine, Soritha Coetzer, Rodney Dawson, Sinead Delany-Moretlwe, Andreas Henri Diacon, Samantha Fry, Katherine Margaret Gill, Zaheer Ahmed Ebrahim Hoosain, Mina C Hosseinipour, Mubiana Inambao, Craig Innes, Steve Innes, Dishiki Kalonji, Margaret Kasaro, Priya Kassim, Noel Kayange, William Kilembe, Fatima Laher, Moelo Malahleha, Vongane Louisa Maluleke, Grace Mboya, Kirsten Mcharry, Essack Mitha, Kathryn Mngadi, Pamela Mda, Tumelo Moloantoa, Cissy Kityo Mutuluuza, Nivashnee Naicker, Vimla Naicker, Anusha Nana, Annet Nanvubya, Maphoshane Nchabeleng, Walter Otieno, Elsje Louise Potgieter, Disebo Potloane, Zelda Punt, Jamil Said, Yashna Singh, Mohammed Siddique Tayob, Yacoob Vahed, Deo Ogema Wabwire, M Juliana Mcelrath, James G Kublin, Linda-Gail Bekker, Peter B Gilbert, Lawrence Corey, Glenda E Gray, Yunda Huang, Philip Kotze, Covpn 3008 Ubuntu Study Team

Faculty, Staff and Students Publications

BACKGROUND: With limited access to mRNA COVID-19 vaccines in lower income countries, and people living with HIV (PLWH) largely excluded from clinical trials, Part A of the multicentre CoVPN 3008 (Ubuntu) study aimed to assess the safety of mRNA-1273, the relative effectiveness of hybrid versus vaccine immunity, and SARS-CoV-2 viral persistence among PLWH in East and Southern Africa during the omicron outbreak.

METHODS: Previously unvaccinated adults with HIV and/or other comorbidities associated with severe COVID-19 received either one (hybrid immunity) or two (vaccine immunity) 100-mcg doses of ancestral strain mRNA-1273 in the first month, depending on baseline evidence of prior …

Atypical Presentation Of Non-Small Cell Lung Carcinoma With Metastasis To Breast Tissue, Tylar P. Seckman, Diane Krutzler-Berry, Mohamed Ashal, Waqas Mahmud, Krista L. Denning, Logan M. Lawrence

Marshall Journal of Medicine

Malignant neoplasms of the lung commonly metastasize to lymph nodes, bone, brain, and liver via hematogenous and lymphatic routes. Much less commonly, metastasis occurs in the breast. Secondary metastatic disease of the breast is very rare, with a reported incidence ranging from 0.4-1.3%­­—with primary lung cancer being one of the most anomalous sources. This case details non-small cell lung cancer metastasis to the breast with proven primary contralateral lung origination. This atypical finding prompts medical professionals to consider these malignant cells' immunologic, histologic, and pathologic makeup to understand further and treat the neoplasm.

Accelerated Symptom Improvement In Parkinson’S Disease Via Remote Internet-Based Optimization Of Deep Brain Stimulation Therapy: A Randomized Controlled Multicenter Trial, Alireza Gharabaghi, Sergiu Groppa, Marta Navas-Garcia, Alfons Schnitzler, Laura Muñoz-Delgado, Vicky L. Marshall, Jessica Karl, Lin Zhang, Ramiro Alvarez, Mary S. Feldman, Michael J. Soileau, Lan Luo, S. Elizabeth Zauber, Benjamin L. Walter, Chengyuan Wu, Hong Lei, Damian M. Herz, Ming-Hua Chung, Yagna Pathak, Bram Blomme, Binith Cheeran, Corneliu Luca, Daniel Weiss

Department of Neurosurgery Faculty Papers

BACKGROUND: Deep brain stimulation (DBS) has emerged as an important therapeutic intervention for neurological and neuropsychiatric disorders. After initial programming, clinicians are tasked with fine-tuning DBS parameters through repeated in-person clinic visits. We aimed to evaluate whether DBS patients achieve clinical benefit more rapidly by incorporating remote internet-based adjustment (RIBA) of stimulation parameters into the continuum of care.

METHODS: We conducted a randomized controlled multicenter study (ClinicalTrails.gov NCT05269862) involving patients scheduled for de novo implantation with a DBS System to treat Parkinson's Disease. Eligibility criteria included the ability to incorporate RIBA as part of routine follow-up care. Ninety-six patients were …

The Relationship Between Self-Efficacy And Self-Management Behavior In Gestational Diabetes Mellitus Control, Fatimah Dwi Cahyani, Shrimarti Rukmini Devy

Journal of Indonesian Health Policy and Administration

Diabetes mellitus gestasional (DGM) merupakan kondisi kesehatan yang meningkat dalam kehamilan dan dapat menyebabkan komplikasi serius bagi ibu dan janin. Self-management yang mencakup pemahaman, penerapan, dan pemeliharaan perilaku kesehatan memiliki peran kunci dalam mengelola DGM. Health Belief Model (HBM) digunakan sebagai kerangka kerja teoretis yang membentuk dasar intervensi untuk meningkatkan self-efficacy pada ibu hamil dengan GDM. Studi ini menganalisis hubungan antara efikasi diri dan manajemen diri dalam pengendalian diabetes gestasional pada ibu hamil. Artikel ini adalah tinjauan pustaka dengan menerapkan metode pencarian literatur. Pencarian literatur dilaksanakan melalui tiga basis data yaitu PubMed, Scopus, dan Google Scholar, yang mencakup artikel-artikel yang …

A Guide To Diagnosis And Management Of Hypertrichosis, Rahib K. Islam, Victoria T. Tong, Shari R. Lipner

School of Medicine Faculty Publications

Hypertrichosis is a phenotype characterized by excessive hair growth in areas not typically prone to dense hair coverage. It may be congenital or acquired, and has significant clinical and psychosocial implications, often leading to psychological distress and social stigmatization. Diagnostic approaches emphasize the importance of thorough clinical evaluation and differentiation from hirsutism. Treatment options include topical and systemic treatments, as well as mechanical methods and laser therapies. Special considerations are given to pediatric patients regarding the psychosocial aspects of the phenotype. This review aims to provide physicians and researchers with a thorough understanding of hypertrichosis to facilitate better diagnosis, treatment, …

Network Analysis Of Headache Diagnoses Using International Classification Of Headache Disorders, 3rd Edition, Pengfei Zhang, Thomas Berk

College of Nursing Faculty Papers & Presentations

BACKGROUND AND OBJECTIVE: The International Classification of Headache Disorders, Third Edition (ICHD-3), significantly influences clinicians' understanding of headache disorders. In this study, we aim to elucidate how the hierarchical structure of ICHD-3 shapes the understanding of interconnectivity among headache disorders.

METHODS: A network comprises elements known as "nodes," with the connections between them referred to as "edges." In our study, a node represents a headache diagnosis that meets at least one ICHD-3 diagnostic criterion of the ICHD-3. We developed two network models for ICHD-3: a non-hierarchical model, where edges are only formed by cross-references found within the text of diagnoses, …

Diagnostic Stewardship Cutoffs For Urinalysis Results Prior To Performing A Urine Culture: Analysis Of Data From A Healthcare System, Deborah Kupferwasser, Amy Y. Kang, Liz Chen, Holly K. Huse, Loren G. Miller

Pharmacy Faculty Articles and Research

Background Urinary Tract Infections (UTIs) are commonly overdiagnosed. Some labs conduct urinalysis (UA) as a preliminary screening before proceeding to urine culture to reduce processing unnecessary samples. However, the optimal UA cutoffs for this diagnostic stewardship intervention are not well defined.

UA squamous epithelial cells were not graphed b/c the value crossed the diagonal at multiple points. Methods We performed a retrospective, cross-sectional analysis of urine studies performed from 2/1/21-1/31/23 at the Los Angeles County Department of Health Services (4 medical centers & 20 clinics). We examined patient encounters in which a UA was ordered synchronously with a urine culture. …

Safety Of Omadacycline Versus Standard-Of-Care Oral Antibiotic Treatment For Bone And Joint Infections: Interim Results From An Open-Label, Non- Inferiority, Randomized Controlled Trial, Amy Y. Kang, Guarina Garcia Delgado, Donna Phan Tran, Evelyn A. Flores, Vanessa Romo-Kozan, Isabel Payan, Loren G. Miller

Pharmacy Faculty Articles and Research

Background

The incidence of bone and joint infections (BJIs) continues to increase, and existing oral BJI antibiotics have limitations. Omadacycline may be a potential treatment option for BJI treatment due to activity against doxycycline-resistant S. aureus and ESBL-producing Enterobacterales for which there are often no viable oral options. However, the safety of omadacycline in this setting is poorly defined.

Methods

We performed an open label, randomized, controlled clinical trial of adults with BJIs in the outpatient setting. Participants were randomized to omadacycline-containing regimen (omadacycline 300mg po daily) or Standard-of-Care (SOC) antibiotics. Adjunctive antibiotics were permitted in addition to omadacycline. Safety …

Genetic Ancestry Concordant Rna Splicing In Prostate Cancer Involves Oncogenic Genes And Associates With Recurrence, Muthana Al Abo, Wen-Chi Foo, Lauren Howard, Shannon Mcgue, Bonnie Lacroix, Julie Kephart, Angela Clayton, Blair Thornburg, Monika Anand, Michael Rothberg, Shannon Mccall, Jiaoti Huang, Thomas Esther, Judd Moul, Michael Ferrandino, Thomas Polascik, Cary Robertson, Brant Inman, Andrew Armstrong, Yuan Wu, Terry Hyslop, Daniel George, Steven Patierno, Jennifer Freedman

Department of Pharmacology, Physiology, and Cancer Biology Faculty Papers

Black men suffer disproportionately from prostate cancer (PCa) compared to men of other races and ethnicities. Comparing the molecular landscape of PCa among Black and White patients has the potential to identify targets for development of new precision medicine interventions. Herein, we conducted transcriptomic analysis of prostate tumors and paired tumor-adjacent normals from self-reported Black and White PCa patients and estimated patient genetic ancestry. Clinical follow-up revealed increased biochemical recurrence (BCR) among Black patients compared to White patients with high-grade PCa. Transcriptomic analysis identified differential alternative RNA splicing events (ARSs) between Black and White PCa patients. Genes undergoing genetic ancestry-concordant …

Recent Advances In Cardiac Resynchronization Therapy: Current Treatment And Future Direction, Arasalan Siddiqui, Vasiliki Tasouli-Drakou, Marc Ringor, Micael V. Dicaro, Brianna Yee, Kachon Lei, Tahir Tak

Department of Internal Medicine Faculty Research

Cardiac Resynchronization Therapy (CRT) has been established as a major component of heart failure management, resulting in a significant reduction in patient morbidity and death for patients with increased QRS duration, low left ventricular ejection fraction (LVEF), and high risk of arrhythmias. The ability to synchronize both ventricles, lower heart failure hospitalizations, and optimize clinical outcomes are some of the attractive characteristics of biventricular pacing, or CRT. However, the high rate of CRT non-responders has led to the development of new modalities including leadless CRT pacemakers (CRT-P) and devices focused on conduction system pacing (CSP). This comprehensive review aims to …

Examining Health Insurance And Non-Medical Challenges Among Vietnamese Americans In Texas During The Covid-19 Pandemic, Alexander Le, Saba Siddiqi, Celine Nguyen, Ben King, Paul Gerardo Yeh, Jannette Diep, Lauren Gilbert, Bich-May Nguyen

Faculty, Staff and Student Publications

When COVID-19 data on Asian Americans are available, they are frequently aggregated, concealing community-specific concerns. Consequently, there is limited COVID-19 literature on Vietnamese Americans. In this study, we investigated the association between health insurance coverage and non-medical challenges during the COVID-19 pandemic, in Vietnamese Americans in Texas. The NIH Community Engagement Alliance (CEAL) Common Survey 2 was administered electronically in English and Vietnamese and contained 23 questions about non-medical drivers of health, COVID-19 vaccination, and research participation. Vietnamese American adults in Texas were recruited between September 2021 and March 2022 via partnerships with community organizations. Responses were compared and analyzed …

Implementation Of Endometriosis Toolkit: A Quality Improvement Project To Enhance Nurse Practitioners’ Knowledge And Management, Hasbun Rachel

DNP Qualifying Manuscripts

Abstract

Background: Endometriosis, characterized by the ectopic growth of endometrial-like tissue, affects approximately 11% of reproductive-aged women in the United States. Diagnosing endometriosis is challenging due to its diverse clinical presentations, reliance on laparoscopic procedures, absence of biomarkers, and limited awareness among healthcare providers and patients.

Local Problem: The diagnostic complexity of endometriosis, compounded by reduced provider awareness and a lack of comprehensive resources, leads to delayed and suboptimal care for affected women.

Methods: This Doctor of Nursing Practice quality improvement project aimed to enhance nurse practitioners’ (NPs) knowledge and management of endometriosis through a 1-hour educational session at the …

Management Of Hip Fracture Patients On Direct Oral Anticoagulants: A Survey Of Orthopaedic Trauma Surgeons, Systematic Review, And Meta-Analysis, Clay Spitler, Robert Rutz, Nigel Blackwood, Meghan Wally, Joseph Johnson, Peter Krause, Jaimo Ahn, Zuhair Mohammed, Mark Mcclure, Rebecca Billings, Ziqing Yu, Matthew Yeager

School of Medicine Faculty Publications

OBJECTIVES: This systematic review examined the literature regarding management of fracture patients who take direct oral anticoagulant (DOAC) medications, with a focus on delay in surgical treatment, and need for transfusions. In addition, a survey of orthopaedic trauma surgeons was conducted to gain insight on current practices. DATA SOURCES: A review of PubMed, Cochrane, Embase, and Scopus databases was performed from inception through March 2024, including English language publications. STUDY SELECTION: Studies were included if they reported time to surgery and transfusion rates among fracture patents who were taking DOAC medications. Additional data points were collected on an "if-reported" basis, …

Clinical Outcomes In Patients With Cystic Fibrosis Receiving Cftr Modulators: A Comparison Of Childhood Versus Adolescent Initiation, Eman A. Toraih, Hassan A. Malik, Rahib K. Islam, Humza A. Pirzadah, Ahmed Abdelmaksoud, Rami M. Elshazli, Paul Antwi Boasiako, Shehab Ahmed Alenazi, Angelique Dabel, Jessan A. Jishu, Bandar T. Alenezi, Hani Aiash, Manal S. Fawzy

School of Medicine Faculty Publications

BACKGROUND/OBJECTIVES: Cystic fibrosis (CF) is a life-limiting genetic disorder affecting multiple organ systems. This study compared clinical outcomes, hospitalization rates, and survival between children and adolescents with CF who received CFTR modulator therapies (ivacaftor, lumacaftor, tezacaftor, and elexacaftor). METHODS: A retrospective cohort study was conducted using data from the TriNetX global collaborative network. Patients with CF aged 2-12 years (children) and 13-18 years (adolescents) who received CFTR modulator therapies were included. The propensity score matching balanced baseline characteristics between the two age groups. RESULTS: After propensity score matching, 946 patients per group were analyzed. The incidence of respiratory failure (3.81% …

Interventions To Prevent And Manage Infections In Pregnancy, Rahima Yasin, Li Jiang, Jai K. Das, Zulfiqar Ahmed Bhutta

Institute for Global Health and Development

Background: Care interventions aimed at preventing and treating maternal infections during the gestational period are of paramount importance. Timely immunizations, screening strategies, and management of maternal infections reduce the risk of complications for the developing fetus and play a pivotal role in improving neonatal outcomes.
Summary: We aim to summarize evidence for a total of thirteen interventions, pertaining to the prevention and treatment of maternal infections during the antenatal period, from Every Newborn Series published in The Lancet 2014. We identified the most recent systematic reviews, extracted data from each review, and conducted a sub-group meta-analysis for low-income countries and …

Hispanic Patients Undergoing Spinal Fusion For Neuromuscular Scoliosis Sustain Health Inequalities, Armando S Martinez, David Momtaz, Travis Kotzur, Alexandra Mclennan, Abdullah Ghali, Farhan Ahmad, Ebubechi Adindu, Alan C Santiago-Rodriquez, Ali Seifi, Brian Smith

Faculty, Staff and Students Publications

INTRODUCTION: Pre- and postoperative optimization remains a complex process impacted by various demographic factors. Our study aims to identify and describe those demographic factors associated with poor outcomes after spinal fusion with instrumentation in neuromuscular scoliosis to reduce health disparities and improve postoperative outcomes.

METHODS: A retrospective analysis was conducted using Healthcare Cost and Utilization Project data from 2016 to 2020, encompassing a random sample of 20% of procedures in the United States. Data included demographic and hospital variables, including days from admission to the procedure, length of stay, recovery time, total charge, discharge disposition, and mortality rates. In addition …

Analisis Gangguan Fungsi Paru Pada Pekerja Di Area Stockpile Pelabuhan Talang Duku Jambi Tahun 2024, Azurly Difi Fahrandis, Melda Yenni, Entianopa Entianopa

National Journal of Occupational Health and Safety

The International Labour Organization (ILO) reported in 2018 that 2.78 million workers die annually due to occupational accidents and work-related diseases. Approximately 2.4 million (86.3%) of these deaths are caused by work-related illnesses. Dust exposure in the work environment can lead to lung function disorders in workers. This study aims to analyze lung function disorders and their relationship with risk factors among workers in the Stockpile Area of Talang Duku Port, Jambi, in 2024. The research method is cross-sectional, with a sample of 38 workers using research instruments including spirometry, questionnaires, interviews, and observations. Results show that 84.2% of respondents …

Efektivitas Full Body Stretching Dan Edukasi Manual Handling Digital Terhadap Keluhan Musculoskeletal Disorders Pekerja Yantek, Nadia Rosalinda, Anita Sulistyorini, Marji Marji, Supriyadi Supriyadi, Tika Dwi Tama

National Journal of Occupational Health and Safety

Occupational Diseases (PAK) in the form of pain complaints in the skeletal system that cause the work process are called Musculoskeletal Disorders (MSDs). PT. PLN Yantek workers are at risk of experiencing MSDs complaints because the work is done manually and the work posture is less ergonomic. This study aimed to analyze the effect of implementing full-body stretch and digital-based manual handling education and to assess its effectiveness on MSDs. The study used a quasi-experimental method with a one-group pretest-posttest design involving 26 Yantek workers. The intervention was given at 10 meetings, MSDs complaints were measured using the Nordic Body …

Pulmonary Pathology In Culture-Negative Sepsis: A Potential Confounder For Sepsis Treatment And Research, Brett Biebelberg

SKMC Student Presentations and Publications

No abstract provided.

Ethnic Disparities In Hba1c And Hypoglycemia Among Youth With Type 1 Diabetes: Beyond Access To Technology, Social Deprivation And Mean Blood Glucose, J. Pemberton, Zhide Fang, Stuart Chalew, S. Uday

School of Public Health Faculty Publications

Introduction The UK national pediatric diabetes audit reports higher HbA1c for children and young people (CYP) with type 1 diabetes (T1D) of Black ethnicity compared with White counterparts. This is presumably related to higher mean blood glucose (MBG) due to lower socioeconomic status (SES) and less access to technology. We aimed to determine if HbA1c ethnic disparity persists after accounting for the above variables. Research design and methods A retrospective analysis of participants who received structured education in continuous glucose monitoring (CGM) use was conducted at a tertiary center. HbA1c was paired with glucose metrics from 90-day CGM data. The …

Use Of Multi-Modal Non-Contrast Mri To Predict Functional Outcomes After Stroke: A Study Using Dp-Pcasl, Dti, Noddi, And Map Mri, Julia Diamandi, Christian Raimondo, Keenan Piper, Joanna Roy, Stephanie Serva, Mahdi Alizadeh, Adam Flanders, Stavropoula Tjoumakaris, Michael Gooch, Pascal Jabbour, Robert Rosenwasswer, Nikolaos Mouchtouris

Department of Neurosurgery Faculty Papers

PURPOSE: This study aims to assess whether water exchange rate (k_w), a surrogate for blood-brain barrier (BBB) permeability, is associated with functional outcomes in patients with acute ischemic stroke (AIS).

METHODS: We studied 22 AIS patients enrolled from 1/2022 to 4/2024 who underwent multi-modal non-contrast imaging on a 3.0-Tesla scanner, including DP-pCASL, DTI, NODDI and MAP imaging. For each parametric map, the intensity and standard deviation (SD) were calculated for the infarcted region. The diffusion maps included were b0, Fractional Anisotropy (FA), Mean Diffusivity (MD), Intra-cellular Volume Fraction (ICVF), Free Water Fraction (FWF), and Orientation Dispersion Index (ODI), …

Prevalence Of Autoimmune Diseases In Patients Treated With Immune Checkpoint Inhibitors: An Epidemiological Study Using A Global Network Of Health Care Organizations, Pushti Khandwala, Devashish Desai, Arthur Lau

Einstein Health Papers

OBJECTIVE: Evaluate prevalence of new onset autoimmune conditions (ACs) after commencement of immune checkpoint inhibitors (ICIs).

METHODS: This retrospective observational study was done using TriNetX. Patients with neoplasm for which ICIs were approved were stratified into two groups based on ICI use. Multivariate Cox proportional hazard models and Kaplan Meier method were used to assess risk of developing ACs among the groups. Subgroup analysis was done to evaluate risk of ACs in patients receiving cytotoxic T-lymphocyte-associated protein 4 inhibitor (CTLA4i) versus program cell death protein 1 inhibitor (PD1i) and program death ligand 1 inhibitor (PDL1i) inhibitors and combination treatment (CT) …

A Randomized, Placebo-Controlled, Cross-Over Trial Of Ketamine In Rett Syndrome, Kathleen Campbell, Jeffrey L Neul, David N Lieberman, Elizabeth Berry-Kravis, Tim A Benke, Cary Fu, Alan Percy, Bernhard Suter, David Morris, Randall L Carpenter, Eric D Marsh, Jana Von Hehn

Faculty, Staff and Students Publications

BACKGROUND: Preclinical studies and anecdotal case reports support the potential therapeutic benefit of low-dose oral ketamine as a treatment of clinical symptoms in Rett syndrome (RTT); however, no controlled studies have been conducted in RTT to evaluate safety, tolerability and efficacy.

DESIGN: This was a sequentially initiated, dose-escalating cohort, placebo-controlled, double blind, randomized sequence, cross-over study of oral ketamine in 6-12-year-old girls with RTT to evaluate short-term safety and tolerability and explore efficacy.

METHODS: Participants were randomized to either five days treatment with oral ketamine or matched placebo, followed by a nine-day wash-out period and then crossed-over to the opposite …

Atm Expression And Activation In Ataxia Telangiectasia Patients With And Without Class Switch Recombination Defects, Fereshte Salami, Tannaz Moeini Shad, Nazanin Fathi, Hanieh Mojtahedi, Marzie Esmaeili, Sepideh Shahkarami, Ladan Gol Mohammad Pour Afrakoti, Parisa Amirifar, Samaneh Delavari, Hassan Nosrati, Azadehsadat Razavi, Mohammad Reza Ranjouri, Mahsa Yousefpour, Zahra Hamidi Esfahani, Gholamreza Azizi, Mahmoudreza Ashrafi, Nima Rezaei, Reza Yazdani, Hassan Abolhassani

Department of Neurology Faculty Papers

BACKGROUND: Ataxia telangiectasia mutated (ATM) kinase plays a critical role in DNA double-strand break (DSB) repair. Ataxia telangiectasia (A-T) patients exhibit abnormalities in immunoglobulin isotype expression and class switch recombination (CSR). This study investigates the role of residual ATM kinase expression and activity in the severity of A-T disease.

METHODS: A-T patients with defined genetic diagnoses were classified based on CSR and based on the severity of their medical complications. Isolated peripheral blood mononuclear cells from any patient were evaluated before and after exposure to 0.5 Gy ionizing radiation for one minute. Western blotting was performed to identify the expression …

Case Report On Endocrine Induced Paralysis - " Unraveling The Impact Of Thyrotoxicosis On Potassium Homeostasis.", Srujith Pullipudi, Basava Chethan, Srinath K. M, Savitha Vijayakumar, Meghna B.S.

Digital Journal of Clinical Medicine

Thyrotoxic periodic paralysis (TPP) is a rare complication of hyperthyroidism, marked by episodes of muscle weakness and hypokalaemia. Although it predominantly affects young Asian men, it can also occur in females and individuals from non-Asian ethnic groups. TPP is a treatable form of hypokalaemic periodic paralysis and can often be the first indication of thyrotoxicosis. Triggers such as a high-carbohydrate diet, strenuous exercise, emotional stress, and steroid use can provoke TPP attacks. During an acute episode, the key diagnostic indicators are hypokalaemia along with elevated levels of thyroxine (T4) and triiodothyronine (T3). Treatment consists of two phases: promptly correcting hypokalaemia …

Comparative Outcomes Of Endovascular Vs. Surgical Treatment In Craniocervical Junction Dural Arteriovenous Fistulas: A Systematic Review And Meta-Analysis, Basel Musmar, Joanna Roy, Atakan Orscelik, Sravanthi Koduri, Spyridon Karadimas, Saman Sizdahkhani, Elias Atallah, Stavropoula Tjoumakaris, Michael Gooch, Hekmat Zarzour, Ritam Ghosh, Richard Schmidt, Robert Rosenwasser, Pascal Jabbour

Department of Neurosurgery Faculty Papers

BACKGROUND: Craniocervical junction dural arteriovenous fistulas (CCJ-DAVFs) are rare and complex vascular malformations that are challenging to diagnose and treat. This study aims to compare surgical and endovascular treatments for CCJ-DAVFs through a systematic review and meta-analysis.

METHODS: A systematic review and meta-analysis was conducted according to the PRISMA guidelines. PubMed, Scopus, and Web of Science databases were searched from inception to July 2024.

RESULTS: Fifteen studies involving 266 patients were included. Of these, 143 (53.8 %) patients underwent surgical treatment alone and 123 (46.2 %) underwent endovascular treatment alone. In the surgical group, the complete obliteration rate at last …

Modifiable Factors For Irritable Bowel Syndrome: Evidence From Mendelian Randomisation Approach, Di Liu, Meiling Cao, Shanshan Wu, Yiwen Jiang, Weijie Cao, Tengfei Lin, Fuxiao Li, Feng Sha, Zhirong Yang, Jinling Tang

Research outputs 2022 to 2026

Background The potential modifiable factors influencing irritable bowel syndrome (IBS) have not been thoroughly documented. We aimed to systematically investigate the modifiable factors associated with IBS, while accounting for the impact of unobserved confounders and coexisting disorders. Methods Genetic correlation and Mendelian randomisation (MR) analyses were integrated to identify potential modifiable factors and coexisting disorders linked to IBS. Subsequently, multiresponse MR (MR 2) was employed to further examine these associations. Summary-level genome-wide association data were used. Modifiable factors and coexisting disorders (ie, gastrointestinal and psychiatric disorders) were identified based on evidence from cohort studies and meta-analysis. In all analyses, IBS …