Medicine and Health Sciences Commons^™

Clinical And Laboratory Predictors Of 30-Day Mortality In Hiv-Positive Adults With Pneumonia: A Prospective Observational Study From North India, Mandip Singh Bhatia, Ankita Kumari Bhargav, Saurabh Chandrabhan Sharda, Shankar Naidu, M. R Shivaprakash, Sunil Sethi, Vikas Gautam, Arnab Ghosh

Journal of Community Hospital Internal Medicine Perspectives

Background: Pneumonia remains a major cause of morbidity and mortality among people living with HIV (PLHIV), particularly in low- and middle-income countries. Despite the availability of antiretroviral therapy (ART), early mortality after hospitalization for pneumonia remains high. Indian data on short-term mortality predictors in HIV-associated pneumonia are limited.

Methods: We conducted a prospective observational study of HIV-positive adults admitted with pneumonia to a tertiary-care hospital in North India between April and December 2025. Clinical, laboratory, microbiological, and radiological parameters were recorded at admission. Patients were followed for 30 days. The primary outcome was all-cause 30-day mortality. Predictors of …

Can Peripheral Angiography Be Safely Performed In Patients With Chronic Renal Insufficiency Without Significant Risk Of Contrast-Associated Renal Injury In Outpatient Settings?, Mubashar Choudry, Artem Shmelev, 0. Pierce Sebastian, Noor-E-Fatima Khan, Aleezay Farhat, Donald Wilkerson

Journal of Community Hospital Internal Medicine Perspectives

Contrast-associated acute kidney injury (CA-AKI) is a known complication following

coronary angiographic procedures using iodinated contrast media (ICM). The risk of CA-AKI is

multifactorial, dependent largely on estimated glomerular filtration rates. The most important

and accepted hospital-based preventive strategy involves both a reduction of iodinated contrast

and multi-hour pre- and post-intervention normal saline hydration. Because of time constraints,

neither ambulatory surgical centers (ASC), nor outpatient-based laboratories (OBL)

can provide similar degrees of pre- and post-intervention hydration. The utilization of

carbon dioxide (CO₂) imaging, intravascular ultrasonography, and limited iso-osmolar

contrast agents may provide an alternative preventive strategy.

Ai-Supported Analysis Of Jury Deliberation Impact Factors, Jennifer Siciliani Phd

Generative AI Teaching Activities

Students conduct a controlled, two-run generative AI jury simulation to examine how a single socio-legal variable affects simulated jury deliberation. They compare and manually code the AI-generated outcomes against peer-reviewed human jury research to evaluate the model’s accuracy, limitations, and potential biases.

Implementation Of Asynchronous Mentor Education Modules To Improve Mentoring Competency, Elvira Sayfutdinova

Doctor of Nursing Practice (DNP) Student Projects

Background & Significance: Structured mentorship supports new CRNAs as they transition to practice, fostering confidence, job satisfaction, and professional growth. The WashU Medicine Department of Anesthesiology (WUDA) launched a CRNA Mentorship Program in 2022, but it lacked standardized mentor education, leading to inconsistent mentor preparation and variable mentoring practices.

Review of Literature Findings: Structured mentor education improves mentoring competency across healthcare settings, yet the literature specific to CRNAs remains limited. Asynchronous, self-paced formats reduce barriers to participation for busy clinicians, but no prior study has evaluated a fully asynchronous, prerecorded mentor-education format for CRNAs.

Methods: This pre-/post quality improvement (QI) …

Palliative Care Consults In The Intensive Care Unit, Kyra Zimmer

Doctor of Nursing Practice (DNP) Student Projects

Background & Significance: Intensive care unit (ICU) patients often face serious illness or terminal diagnoses requiring invasive monitoring and life-sustaining treatments. Palliative care (PC) supports patients and their families by focusing on improving quality of life, goals of care, and symptom management. It is estimated that 14-20% of ICU patients in the United States could benefit from palliative care consults (PCCs) with potential savings of $6 billion per year. Nurses caring for these patients face unique ethical challenges and may develop secondary post-traumatic stress, emotional strain, burnout, and compassion fatigue.

Review of Literature: The review of literature supported a structured …

Implementation Of A Learning Module To Reduce Advanced Practice Provider Preceptor Burden, Michelle Bloom

Doctor of Nursing Practice (DNP) Student Projects

The transition of advanced practice providers (APPs) from student to provider, or from an experienced provider to a new organization or location, has been identified as a high-stress period with potential turnover for new-hire APPs. APP preceptors play a key role in this transition. Limited time to teach during the clinical day and a limited knowledge base among new hires were two of many factors associated with increased preceptor burden. A brief online educational module that provided pre-clinical, organization-specific education was proposed to improve new-hire APPs’ knowledge base and reduce preceptor burden, among APP preceptors working in a 36-bed surgical/burn/trauma …

Pilot Intervention Of Wearable Smart Device And Coaching To Improve Sleep, Well-Being, And Professional Fulfilment Among Female Clinicians In Primary Care, Cheryl D. Stults, Sien Deng, Nina K. Szwerinski, Amandeep Mann, Sarina Le Sieur, Kimberly Ababseh, Tiffany Lam, Jill Kacher Cobb, Kelly Reilly, Stacey Upton, Dionyse Hartmann, Dennise Rosas, Laurie Gregg

Journal of Wellness

Introduction: Previous research has suggested an association between lack of sleep and well-being. Given higher rates of burnout among female clinicians, the Sutter Health “Joy of Work” team (a multidisciplinary group dedicated to improving organizational well-being) conducted a pilot among female clinicians in ambulatory services to assess factors associated with sleep, professional fulfillment, and intention to leave/reduce work hours.

Methods: The intervention consisted of several components: an Oura ring (a wearable smart ring device that tracks activity, sleep, and heart rate); health coaches who sent text messages to participants and advised those participants with additional resources and questions; and three …

Discovering Repurposable Drugs For Alzheimer's Disease And Related Dementias: Target Trial Emulation Using Decentralised Real-World Data, Qiong Wu, Lu Li, Yuqing Lei, Ting Zhou, Huilin Tang, Bingyu Zhang, Yiwen Lu, Maxwell Salvatore, Dazheng Zhang, Jiayi Tong, Tingyin Wang, Siqi Chen, Haoyang Li, Zhenxing Xu, Yu Huang, Yu Hu, Na Hong, Yujia Zhou, Fongci Lin, Kyra O'Brien, Yong Chen, Ruowang Li, Hua Xu, Fei Wang, Jiang Bian, David Wolk, Yong Chen

College of Population Health Faculty Papers

BACKGROUND: Alzheimer's disease and related dementias (ADRD) affect nearly 6.9 million Americans, with the number expected to triple by 2050, while disease-modifying therapies remain unavailable. Drug repurposing, which identifies new indications for already approved medications, offers a more efficient and cost-effective pathway to accelerate development of effective therapies for ADRD. The aim of this study is to identify potential drug repurposing signals by systematically screening routinely prescribed drugs for associations with progression from mild cognitive impairment (MCI) to ADRD.

METHODS: We conducted a multi-site target trial emulation using electronic health record (EHR) data from four decentralised databases: INSIGHT Clinical Research …

Universal Screening For Measles Immunity During Pregnancy: A Cost-Effectiveness Analysis, Anuradha Devabhaktuni, Sarah Boudova, Elias Kassir, Sohum Shah, Neil S. Silverman, Christina S. Han

Department of Obstetrics and Gynecology Faculty Papers

BACKGROUND: Measles is a highly contagious illness capable of causing significant morbidity and mortality, including adverse pregnancy outcomes. Routine screening for measles immunity is not currently recommended during pregnancy. Given the increasing frequency of measles outbreaks nationally and globally, awareness of measles immunity status can influence management of pregnant individuals who incur measles exposures and offer an opportunity for postpartum or preconception vaccination.

OBJECTIVE: We sought to evaluate the cost-effectiveness of universal screening for measles immunity during pregnancy in the United States.

STUDY DESIGN: A decision-analytic model was constructed to evaluate the cost-effectiveness of universal screening for measles immunity during …

Dimensions Of Father-Love Absence As Predictors Of Psychological Well-Being: Evidence From University Students, Dody Hartanto, Mufied Fauziah, Zerlinda Aurora Saputri

Jurnal Kajian Bimbingan dan Konseling

Psychological well-being is a crucial aspect of university students' development as young adults. Father-love absence is believed to be one of the factors influencing this well-being. This study aimed to analyze the role of father-love absence as a predictor of university students' psychological well-being and to identify the contribution of each aspect of father-love absence. A quantitative approach with a descriptive correlational design was employed. A total of 318 active university students were selected through simple random sampling and completed an online questionnaire. Father-love absence was measured using an adapted scale based on Xiang and Zhou's theory, encompassing four aspects: …

Low Rates Of Smoking Cessation Medication Prescriptions And Evidence To Support Increased Medication Utilization, Jesse Pratt

SIU Journal of Medical Science Scholarly Works

ABSTRACT

Introduction: Tobacco use remains a major cause of morbidity and mortality in the United States.  Over the past several decades, there has been a steady decline in tobacco use, however overall use remains unacceptably high.  Despite recommendations to treat people with tobacco use disorder with smoking cessation medications (SCMs), prescriptions for SCMs remain low.

Methods: A PubMed search was conducted using search terms “adult”, “smoking cessation”, “medication”, “varenicline”, “nicotine”, and “bupropion”.  Filters included publication dates within ten years, and full text.  Search results yielded 109 articles.  Thirteen articles were selected for the review.  The articles chosen either discussed prescribing …

The Impact Of A Modified Hospital Elder Life Program On Delirium, Ashley Okray

SIU Journal of Medical Science Scholarly Works

Background: Delirium, an acute state of fluctuating inattention and cognitive impairment, is prevalent among hospitalized older adults and associated with longer hospital stays, increased mortality, and significant healthcare costs. The Hospital Elder Life Program (HELP) was developed to reduce delirium through interventions addressing common risk factors. Although HELP has proven effective, many hospitals face challenges in implementing the program, leading to modified versions. This review examines recent studies using modified HELP to assess their impact on delirium prevention.

Methods: A literature search was conducted to identify studies from the last ten years that implemented modified HELP programs. Relevant studies …

Preoperative Urine Drug Screen To Increase Surgical Efficiency, Joseph Mashinchi

SIU Journal of Medical Science Scholarly Works

Purpose: The purpose of this article is to standardize the use of preoperative urine drug screens for adults scheduled for elective surgery in order to improve surgical efficiency and reduce perioperative and postoperative complications.

Method: A PubMed Search was conducted to review literature published within the past five years. The joint terms “urine drug screen and surgery” were used in the search. A literature review was conducted after reviewing multiple articles and screening for their quality, timeliness, and pertinence to elective surgical procedures and illicit drug use.

Results: Performing a urine drug screen prior to elective surgical procedure identified illicit …

Physician Assistant/Associate Mentorship In Academic Medical Centers: Is It Necessary? A Literature Review, Allana Lewis

SIU Journal of Medical Science Scholarly Works

ABSTRACT

Background: The number of Physician Assistants/Associates (PAs) hired in academic medicine has increased over the years. Academic medical centers provide opportunities for research, clinical practice, and educational advancement. However, the status of professional mentorship opportunities specific to PAs in academic medical settings is unclear. PAs in academic medical settings are exposed to career opportunities beyond clinical practice, including research and academic education. A greater interest in the number of PAs seeking career advancement within academic medicine may arise as the number of PAs obtaining Doctor of Medical Science degrees (DMSc) increases. The purpose of this literature review is to …

The Promise Of Precision: Evaluating The Efficacy Of Robotic-Assisted Total Knee Arthroplasty, Jodi Wernikoff

SIU Journal of Medical Science Scholarly Works

Purpose: This article aims to review the treatment of patients diagnosed with primary knee osteoarthritis requiring a total knee arthroplasty and examine if the use of robotic- assisted surgery compared to traditional manual surgery results in improved functional outcomes and fewer post-operative complications.

Method: A PubMed literature search was conducted using the search terms total knee arthroplasty, robot surgical procedures, knee osteoarthritis, and quality of life. Nine articles were retrieved and served as the basis for this clinical review.

Results: While RA-TKA holds promise, more comprehensive comparative research is still required to assess the efficacy of RA-TKA in comparison to …

Preparation Of Physician Assistant Students To Manage Patients Living With Hiv/Aids In A Primary Care Setting, Austin Parrish

SIU Journal of Medical Science Scholarly Works

This study examined Human Immunodeficiency Virus (HIV), Acquired Immunodeficiency Syndrome (AIDS), Pre-Exposure Prophylaxis (PrEP), and Post-Exposure Prophylaxis (PEP) educational exposure among clinical-phase physician assistant (PA) students and evaluated how well current curricula prepare future providers for HIV prevention and care. A cross-sectional survey of 109 PA students assessed HIV-related knowledge, clinical exposure, and awareness of key public health concepts, while lecture materials from 30 PA programs were analyzed for curricular content. Students demonstrated moderate but incomplete baseline knowledge, and fewer than one-quarter reported observing PrEP prescribing during primary care rotations. Awareness of Undetectable = Untransmittable (U=U) was limited, with only …

Barriers To Breast Cancer Screening In Native Hawaiian Women, Luna M. Noel

SIU Journal of Medical Science Scholarly Works

ABSTRACT:

Purpose: The purpose of this article is to identify barriers for breast cancer screening in Native Hawaiian (NH) Women, identify ways to overcome those barriers, and increase breast cancer screening in NH Women.

Method: A PubMed literature search was conducted with search terms barriers to reasons to screen for breast cancer, barriers to breast cancer screening, barriers to breast cancer screening in Hawaii, barriers to breast cancer screening in Native Hawaiian women, breast cancer screening AND Native Hawaiian Women. Seventeen pertinent articles were retrieved and serve as the basis for this clinical review.

Results: Some barriers to mammography for …

Intermittent Fasting: Effectiveness In Lowering Bmi Of Postmenopausal Women, Becky Hanna

SIU Journal of Medical Science Scholarly Works

ABSTRACT

Purpose: The purpose of this article is to review the intervention of an intermittent fasting diet in postmenopausal women with a BMI greater than or equal to 30 kg/m² in comparison with a nonintervention diet for lowering BMI.

Method: A literature search was performed utilizing PubMed. Keywords such as intermittent fasting, fasting, obesity, weight loss, time-restricted feeding, postmenopausal, and menopause were used in the search. The search was limited to free full articles with dates of 2019-2024. A few combinations of terms were used to focus the results of the search. Articles examining exercise plus intermittent fasting as …

From Readiness To Transformation: The Mediating Role Of Digital Maturity In Linking Ai Readiness To Organizational Change In Hospitals, Muhammad Ryan Adi Putra, Giovanni Reynaldo, Dewi Sri Surya Wuisan

Journal of Health Research

Background: Organizational readiness is essential for AI-enabled digital transformation as healthcare organizations increasingly integrate artificial intelligence (AI). However, empirical evidence regarding the relationship between AI readiness and organizational change, the mediating role of digital maturity, remains limited in healthcare settings. This study investigated the mediating role of digital maturity in the relationship between AI readiness and organizational change.

Methods: This cross-sectional study involved 300 healthcare professionals from two Indonesian hospitals: Persahabatan Hospital (n = 165) and St. Carolus Hospital (n = 135). Data were collected using a questionnaire and analyzed through Partial Least Squares Structural Equation Modeling (PLS-SEM) to assess …

Impact Of The Widespread Use Of Online Pharmacies On Overall Consumer Safety, Hasanain Am. Abbas, Eswar Kumar Kilari, Shereen M. Mekkey, Hussein Ahmed Jabbar, Mohammed Haider Majid, Haider Majeed Abd Abbas, Hassanein Khaled Hassan

Al-Mustaqbal Journal of Pharmaceutical and Medical Sciences

Online pharmacies improve access to medicines by offering convenient ordering and home delivery, but their growth also creates important risks for medication safety and public health. This review examines the benefits and hazards associated with online medicine supply, including access without a valid prescription, falsified and substandard products, inappropriate medicine use, privacy breaches, and weak cross-border regulatory oversight. The available evidence indicates that illicit online sellers can expose consumers to products of uncertain identity, quality, and dose, while vulnerable users may have limited ability to distinguish legitimate services from unlawful vendors. At the same time, licensed platforms can support continuity …

Preparation And In Vitro Evaluation Of Gastro-Retentive Tablets Of Frusemide Using Gas Generating Excipients As Floating Mechanism, Yousif K. Younis, Ahmed Yousif Fadhel, Nihad Hussein Ahmed

Al-Mustaqbal Journal of Pharmaceutical and Medical Sciences

Frusemide is a loop diuretic used for hypertension, heart failure among many other indications. It has an absorption window in the stomach and it's a class IV drug according to BCS with low bioavailability.
Floating tablets are one of the dosage forms that is best suited for drugs with such absorption window and gas generating excipients can be used to reduce floating lag times even more than traditional floating tablets that relay on density difference alone.
The aim of the study was to investigate the feasibility of floating tablets as a convenient dosage form for oral administration of frusemide aiming …

Impact Of Erythropoietin Therapy On Inflammatory Biomarkers In Chronic Kidney Disease: A Comparative Study, Riyam Naji Al_Alwani, Jahanbakhsh Asadi, Zainab Mohammadi

Al-Mustaqbal Journal of Pharmaceutical and Medical Sciences

Background: Chronic kidney disease (CKD) is a progressive disorder frequently complicated by anemia and a persistent inflammatory state, both of which significantly contribute to morbidity and mortality. Reduced renal production of erythropoietin (EPO) is the primary cause of anemia in CKD. Emerging evidence suggests that EPO may exert anti-inflammatory and metabolic effects beyond its hematopoietic role. This study aimed to compare serum EPO levels and inflammatory biomarkers in CKD patients treated with EPO versus untreated CKD controls.
Material and Methods: This cross-sectional analytical study was conducted on 60 adult patients with CKD undergoing regular hemodialysis. Participants were divided into two …

Current Advances In Cancer Immunotherapy: Mechanisms, Therapeutic Strategies, Challenges, And Future Perspectives, Mohamed E. Abd El-Hack, Mahmoud Moustafa, Mahmoud Kamal, Vincenzo Tufarelli, Muhammad Arif, Laith Aldabbagh

Al-Mustaqbal Journal of Pharmaceutical and Medical Sciences

Cancer immunotherapy has emerged as a transformative therapeutic strategy that harnesses the host immune system to recognize and eliminate malignant cells. This review provides a comprehensive overview of current immunotherapeutic approaches, including immune checkpoint inhibitors (ICIs), monoclonal antibodies (mAbs), cancer vaccines, dendritic cell (DC)-based vaccines, chimeric antigen receptor (CAR)-T cell therapy, and oncolytic virus therapy. The mechanisms of action, therapeutic applications, and clinical benefits of each modality are discussed. Monoclonal antibodies selectively target tumor-associated antigens, whereas ICIs restore antitumor immunity by blocking inhibitory immune checkpoints. Cancer vaccines and DC-based vaccines enhance antigen-specific immune responses, while CAR-T cell therapy employs genetically …

Computational Design, Molecular Docking, Sar, And Admet Analysis Of Novel Jak1 Inhibitors As A Possible Treatment For Rheumatoid Arthritis, Sarah Ahmed Waheed

Al-Mustaqbal Journal of Pharmaceutical and Medical Sciences

Rheumatoid arthritis is an inflammatory autoimmune disease affecting the joints which eventually leads to systemic comorbidities. Its pathogenesis was attributed to disturbances in the Janus Kinase/Signal Transducer and Activator of Transcription signaling pathway. In this research, an innovative lead compound C6 was created and docked toward Janus Kinase1 (JAK1). The docking process was confirmed by re-docking of the co-crystallized ligand MI1 (Tofacitinib). C6 showed a predicted docking score of -9.17 kcal/mol, with enhancement of 1.26 kcal/mol over Tofacitinib. Evaluation of the interactions showed a framework of five hydrogen bonds within the binding site involving an important contact with Glu966 as …

Diagnostic Accuracy Of Quantitative Coronary Analysis As Compared With Instantaneous Wave-Free Ratio In Intermediate Coronary Lesions: A Prospective Vessel-Level Study, Tamer Mosaad Ragab, Khaled Ahmed Alkhashab, Mohamed Zaki Hussain, Ibrahim Mohammed Nosseir, Marwa Salah Sayed, Waleed Khaled Ali Salem

Journal of the Saudi Heart Association

Background: Instantaneous wave-free ratio (IFR) represents a new vasodilator-free innovative approach which is considered as a gold standard for functional assessment of the hemodynamic significance of intermediate coronary stenoses. Although relatively safe, iFR is still an invasive procedure that has its potential hazards, complications and cost. Two-dimensional quantitative coronary analysis (2D-QCA) is a non-invasive technique that has emerged robustly as an excellent and attractive tool for delineating coronary anatomy.

Aims: To assess the ability of two-dimensional quantitative coronary analysis (2D-QCA) to guide decision-making for quantification of severity of intermediate coronary stenoses (40–80% diameter stenosis) in each of the three main …

Assessment Of Timp1, Transgelin-2, And Procalcitonin As Protein Biomarkers For Diagnosis And Prognosis Of Bloodstream Infection In A Critically Ill Cohort, Sajal Tiwary, Caroline A O'Neil, Sydney Lawless, Olivia Arter, Meghan Brown, Brittany Roemmich, Carleigh Samuels, Jennie H Kwon, Christopher W Farnsworth

2020-Current year OA Pubs

BACKGROUND: Bloodstream infections (BSI) are a significant contributor to morbidity and mortality among hospitalized patients. Rapid diagnosis of BSI is critical for timely and appropriate clinical management, but current diagnostic strategies have a prolonged turnaround time or only identify select pathogens with minimal prognostic information.

METHODS: We examined serial serologic samples from 77 intensive care unit (ICU) patients at time points before, during, and after diagnosis of presumptive BSI to identify host-derived protein biomarkers associated with specific organisms and with clinical outcomes in BSI. ICU patients with and without BSI were included. Two candidate biomarkers, tissue metalloproteinase 1 (TIMP-1) and …

Colour Doppler-Guided Superthin Inferior Gluteal Artery Perforator Flap Elevation For Ischial Pressure Ulcer Reconstruction, Muhammed Said Aydin, Gökay Özler, Şükrü Kasap, Mustafa Nişanci

Sultan Qaboos University Medical Journal

Ischial pressure ulcer reconstruction requires durable coverage while preserving local donor options for possible recurrence. The inferior gluteal artery perforator (IGAP) flap is a muscle-sparing option, but superthin elevation requires precise knowledge of the superficial fascial plane and the subcutaneous course of the selected perforator. This technical note describes colour Doppler ultrasonography-guided superficial fascial plane mapping before superthin IGAP flap elevation in a 27-year-old paraplegic patient with a chronic left ischial pressure ulcer who presented in 2025 to a tertiary care university hospital in Muğla, Turkey. Preoperative high-frequency colour Doppler ultrasonography identified the dominant perforator, measured the relevant fascial intervals …

Pulmonary Adenocarcinoma Arising From Somatic-Type Malignant Transformation Of A Nonseminomatous Germ Cell Tumor: A Case Report, Abdel Martinez Borrego, Brandon Cantazaro, Fatimah Bello, Christine Vega, Natacha Vargas, Payal Bhakta, Renzo Arauco

School of Medicine Publications

Somatic-type malignant transformation (STM) is a rare but aggressive complication of nonseminomatous germ cell tumors (NSGCTs), most commonly arising from the teratomatous component and frequently occurring in metastatic sites. We report the case of a man in his 20s with a history of mixed NSGCT (50% yolk sac tumor, 40% teratoma, and 10% embryonal carcinoma) treated with left orchiectomy and chemotherapy in 2023, who initially responded to treatment but was subsequently lost to follow-up. He presented with one week of progressive dyspnea and pleuritic left-sided chest pain. Serum alpha-fetoprotein was markedly elevated at 2,966.7 ng/mL. Computed tomography demonstrated a progressive …

Single-Session Robot-Assisted Removal Of A Retained Ureteral Stent With Complex Proximal And Distal Encrustation: A Case Report, Maximo Alvarez, Cole Freedman, Emma Romero, Paul Kim, Alexis Garza, Harras Zaid

School of Medicine Publications

Retained encrusted ureteral stents represent a complex urologic problem, particularly in patients with limited healthcare access. We present a 28-year-old undocumented female with a 10-month retained ureteral stent who developed massive right-sided encrustation, including a 3 cm proximal renal stone near the renal pelvis and a 5-6 cm bladder stone, classified as FECal Grade IV-V. A single-session combined approach consisting of robot-assisted cystolithotomy, intraoperative ureteroscopy with stent exchange, and robot-assisted pyelolithotomy was performed successfully. Intraoperative ureteroscopy between operative phases confirmed ureteral clearance and enabled immediate stent placement without repositioning delay. This case supports the use of combined robotic approaches for …

Complementary Vertebrate Wac Models Exhibit Phenotypes Relevant To Desanto-Shinawi Syndrome, Kang-Han Lee, Marwan Shinawi, Et Al.

2020-Current year OA Pubs

Monogenic syndromes are associated with neurodevelopmental changes that result in cognitive impairments and neurobehavioral phenotypes, including autism and seizures. Limited studies and resources are available to make meaningful headway into the underlying molecular mechanisms that result in these symptoms. One such example is DeSanto-Shinawi Syndrome (DESSH), a rare disorder caused by pathogenic variants in the