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Articles 811 - 840 of 44978

Full-Text Articles in Medical Sciences

Predicting Epileptic Seizures From Eeg Signals Using Machine Learning, Hamzah Luqman, Galal M Binmakhashen, Hanan Alali, Marwa Alsleebi, Hamdi A. Al-Jamimi, Motaz Alfarraj, Shahid Bashir, Brent Hedgcock, Ali Mir, Raidah Albaradie Apr 2026

Predicting Epileptic Seizures From Eeg Signals Using Machine Learning, Hamzah Luqman, Galal M Binmakhashen, Hanan Alali, Marwa Alsleebi, Hamdi A. Al-Jamimi, Motaz Alfarraj, Shahid Bashir, Brent Hedgcock, Ali Mir, Raidah Albaradie

Neurosciences

Objective: To develop a machine learning-based model for predicting epileptic seizures by analyzing electroencephalogram (EEG) signals and classifying the interictal and preictal phases.

Methods: The EEG signals were analyzed in both the time and frequency domains using advanced feature extraction techniques. Three different machine learning approaches were employed, with special focus on long short-term memory (LSTM) networks. Features were extracted and classified to differentiate between seizure and non-seizure phases. The proposed models were evaluated using the publicly available CHB-MIT EEG dataset. The study was conducted between September 2022 and September 2024.

Results: Among the tested models, the LSTM-based approach using …


Epilepsy And Cluster C Personality Disorders: A Saudi Cross-Sectional Study, Mohammed A. Aljaffer, Ahmad H. Almadani, Ayedh H. Alghamdi, Mohammad N. Aljarba, Azzam A. Alotaibi, Mohammed A. Alorayyidh, Abdulaziz M. Alawwad, Rakan S. Alromayan, Faisal M. Alkhunein, Sohaila A. Alshimemeri, Bandar N. Aljafen Apr 2026

Epilepsy And Cluster C Personality Disorders: A Saudi Cross-Sectional Study, Mohammed A. Aljaffer, Ahmad H. Almadani, Ayedh H. Alghamdi, Mohammad N. Aljarba, Azzam A. Alotaibi, Mohammed A. Alorayyidh, Abdulaziz M. Alawwad, Rakan S. Alromayan, Faisal M. Alkhunein, Sohaila A. Alshimemeri, Bandar N. Aljafen

Neurosciences

Objective: Epilepsy is a neurological disorder with profound impacts on various aspects of life. It may lead to significant medical and psychiatric comorbidities, one of which is personality disorders (PDs). This study aims to assess the prevalence of Cluster C PDs among adult patients with epilepsy (PWE) at a tertiary care hospital in Riyadh, Saudi Arabia. Method: This cross-sectional study, conducted between January 2024 and April 2025, enroled 360 adult PWE using convenience sampling. The study tool included the Structured Clinical Interview for DSM Disorders criteria, along with additional demographic and epilepsy-related questions developed by the research team. Results: Cluster …


Vo: The Vaccine Ontology, Jie Zheng, Asiyah Yu Lin, Anthony Huffman, Anna Maria Masci, Rebecca Racz, Guanming Wu, Kallan Roan, Edison Ong, Sirarat Sarntivijai, Joy Hu, Eliyas Asfaw, Hayleigh Kahn, Xingxian Li, Xumeng Zhang, Joshua Monickaraj, Nilufer Kosar, Jianfu Li, Warren Manuel, Rashmie Abeysinghe, Hasin Rehana, Benu Bansal, Yuanyi Pan, Jinjing Guo, Virginia He, Justin Song, Andrey I Seleznev, Katelyn Hur, Anna He, Alexander Davydov, Qi Yang, Anna Ostropolets, Randi Vita, Bjoern Peters, Alan Ruttenberg, Alexander D Diehl, Charles Tapley Hoyt, Paola Roncaglia, Rachael P Huntley, Richard H Scheuermann, Melanie Courtot, Thomas Todd, Samantha Sayers, Fang Chen, Xinna Li, Feng-Yu Yeh, Zuoshuang Xiang, Arzucan Ozgur, Patricia L Whetzel, Mark A Musen, Christopher J Mungall, Wolfgang W Leitner, Licong Cui, Lesley A Colby, Harry L T Mobley, Brian D Athey, Gilbert S Omenn, Lindsay G Cowell, Cui Tao, Junguk Hur, Barry Smith, Yongqun He Apr 2026

Vo: The Vaccine Ontology, Jie Zheng, Asiyah Yu Lin, Anthony Huffman, Anna Maria Masci, Rebecca Racz, Guanming Wu, Kallan Roan, Edison Ong, Sirarat Sarntivijai, Joy Hu, Eliyas Asfaw, Hayleigh Kahn, Xingxian Li, Xumeng Zhang, Joshua Monickaraj, Nilufer Kosar, Jianfu Li, Warren Manuel, Rashmie Abeysinghe, Hasin Rehana, Benu Bansal, Yuanyi Pan, Jinjing Guo, Virginia He, Justin Song, Andrey I Seleznev, Katelyn Hur, Anna He, Alexander Davydov, Qi Yang, Anna Ostropolets, Randi Vita, Bjoern Peters, Alan Ruttenberg, Alexander D Diehl, Charles Tapley Hoyt, Paola Roncaglia, Rachael P Huntley, Richard H Scheuermann, Melanie Courtot, Thomas Todd, Samantha Sayers, Fang Chen, Xinna Li, Feng-Yu Yeh, Zuoshuang Xiang, Arzucan Ozgur, Patricia L Whetzel, Mark A Musen, Christopher J Mungall, Wolfgang W Leitner, Licong Cui, Lesley A Colby, Harry L T Mobley, Brian D Athey, Gilbert S Omenn, Lindsay G Cowell, Cui Tao, Junguk Hur, Barry Smith, Yongqun He

Faculty, Staff and Student Publications

Vaccines are widely used in both research and clinical settings. To facilitate FAIR data practices, we urgently need to standardize vaccine representation, integrate information across diverse vaccine types, and support computer-assisted reasoning. Accordingly, we have since 2007 developed the community-based Vaccine Ontology (VO), which aligns with the Basic Formal Ontology and adheres to OBO Foundry principles. VO ontologically models vaccines, vaccine components, vaccine immune responses, vaccine investigation studies and other vaccine-related topics. VO represents more than 10,000 vaccines targeting 289 infectious pathogens and cancers in humans and over 30 nonhuman animal species. VO provides mappings to external resources such as …


Hyperdynamic Microtubule-Based Structural Changes In Monocyte-Derived-Neuronal-Like Cells From Patients With Schizophrenia, Alfredo Bellon, Alonso Cortez-Resendiz, Lauren N Forrest, Omar Elmarasi, Janani Iyer, Anjali Iyer, Chachrit Khunsriraksakul, Dajiang Liu, L Elliot Hong, Therese M Jay, Marie-Odile Krebs, Anne Hosmalin Apr 2026

Hyperdynamic Microtubule-Based Structural Changes In Monocyte-Derived-Neuronal-Like Cells From Patients With Schizophrenia, Alfredo Bellon, Alonso Cortez-Resendiz, Lauren N Forrest, Omar Elmarasi, Janani Iyer, Anjali Iyer, Chachrit Khunsriraksakul, Dajiang Liu, L Elliot Hong, Therese M Jay, Marie-Odile Krebs, Anne Hosmalin

Faculty, Staff and Student Publications

A consistent postmortem finding in schizophrenia (SCZ) is reduction in dendrites' size. However, neurons with larger dendritic trees have also been encountered. In vitro experiments with neurons and neuronal-like cells coming directly from patients with SCZ showed similar results, evidencing at times more extensions and at others less arborizations. The process of extending and retracting neuronal outgrowths depends on microtubules polymerization and depolymerization. The possibility that microtubule polymerization/depolymerization is related to defects in the neuronal structure comes from several microtubular anomalies reported in SCZ such as its abnormal distribution in the cytoplasm, irregular shape of microtubules and even absence of …


Cyanosis-Associated Coagulopathy In Neonates Undergoing Cardiopulmonary Bypass: A Scoping Review, Lily Crickmar Apr 2026

Cyanosis-Associated Coagulopathy In Neonates Undergoing Cardiopulmonary Bypass: A Scoping Review, Lily Crickmar

Student Works

2. Structured summary:

A. Background: Patients with cyanotic congenital heart disease exhibit coagulation abnormalities related to chronic hypoxemia, which may increase the risk of bleeding and thrombosis, particularly during cardiopulmonary bypass.

B. Objective: This scoping review mapped the existing literature on coagulation disturbances and perioperative hemostatic outcomes in pediatric patients with cyanotic congenital heart disease.

C. Methods: 14 studies meeting the inclusion criteria were identified through structured database searching. The data were collected and synthesized descriptively due to heterogeneity in study design, patient populations, and coagulation assessment methods.

D. Results: Across studies, cyanotic patient physiology was associated with platelet dysfunction, …


Prevalence Of Low Energy (Lea) Risk In Division Iii Female Distance Athletes, Ciara Murphy Apr 2026

Prevalence Of Low Energy (Lea) Risk In Division Iii Female Distance Athletes, Ciara Murphy

Masters Theses/Capstone Projects

Context 

Low energy availability (LEA) occurs when energy intake is insufficient to support normal physiological functions after exercise (Loucks, 2011). Prolonged LEA can negatively affect metabolic functions, reproductive health, and bone density, and contribute to the development of the female athlete triad and relative energy deficiency in sport (RED-S) (Papageorgiou, 2017).

Objective

The objective of this study was to explore the prevalence of LEA among Division III female distance athletes.

Design

Cross-sectional study

Setting

Online questionnaire administered through Qualtrics

Participants 

A total of 12 Division III female distance athletes (ages 18-23).

Intervention

Anonymous, electronic questionnaire assessing symptoms associated with low …


The Role Of The Ventral Tegmental Area In Reward And Addiction: A Comprehensive Review, Emad Ali Albadawi Apr 2026

The Role Of The Ventral Tegmental Area In Reward And Addiction: A Comprehensive Review, Emad Ali Albadawi

Neurosciences

The ventral tegmental area (VTA) is a central hub in reward and motivation, integrating heterogeneous neuronal populations and projection-defined circuits to regulate learning, decision-making, and addiction. This review synthesizes anatomical organization and cellular diversity (dopaminergic, GABAergic, and glutamatergic neurons, including multitransmitter co-release), and maps major efferent pathways constituting the mesolimbic and mesocortical systems. We highlight computational roles of VTA activity, including reward prediction errors, incentive salience, and context memory integration, and summarize drug class-specific mechanisms that perturb VTA output. We then outline time-dependent neuroadaptations across mesocorticolimbic networks and discuss therapeutic implications spanning pharmacological, behavioral, and emerging circuit-targeted interventions. Together, these …


Associations Of Regional White Matter Hyperintensities Severity With Different Visual Rating Scales And Domain-Specific Cognitive Impairment, Xiaolu Zheng, Sipei Pan, Yi Man, Zhenghao Shi Apr 2026

Associations Of Regional White Matter Hyperintensities Severity With Different Visual Rating Scales And Domain-Specific Cognitive Impairment, Xiaolu Zheng, Sipei Pan, Yi Man, Zhenghao Shi

Neurosciences

Objective: To explore the association between regional white matter hyperintensities (WMHs) severity and domain-specific cognitive impairment.
Methods: We analyzed 95 WMHs patients retrospectively and evaluated cognitive function. We quantified regional WMHs severity using the Scheltens Rating Scale (SRS) and Cholinergic Pathways Hyper intensities Scale (CHIPS). According to the regional WMHs scores, we divided the patients for intergroup comparisons of WMHs severity with domain-specific cognitive scores via the nonparametric Wilcoxon rank-sum test.
Results: Neither the SRS nor the CHIPS total scores showed statistically correlation with cognitive scores (p > 0.05). However, in the bands lateral ventricles of periventricular hyperintensities …


To Calculate The Nationwide Incidence/Prevalence Figures For Charcot-Marie-Tooth Disease, The Entire Population Must Be Screened, Sinda Zarrouk, Josef Finsterer Apr 2026

To Calculate The Nationwide Incidence/Prevalence Figures For Charcot-Marie-Tooth Disease, The Entire Population Must Be Screened, Sinda Zarrouk, Josef Finsterer

Neurosciences

No abstract provided.


Alterations In Gut Microbiota And Their Association With Intestinal Mucosal Injury In Children With Febrile Seizures, Lin Yang, Shuan Yin, Wenchao Zou Apr 2026

Alterations In Gut Microbiota And Their Association With Intestinal Mucosal Injury In Children With Febrile Seizures, Lin Yang, Shuan Yin, Wenchao Zou

Neurosciences

Objective: To explore the correlation between diversity of the gut microbiota and key markers of inflammation and intestinal mucosal injury in pediatric febrile seizures (FS).

Methods: This study compared 15 FS children (FS group) and 15 healthy individuals (normal control group). The participants underwent 16S rDNA sequencing to analyze gut microbiota profiles. ELISA was employed to measure peripheral blood concentrations of the pro-inflammatory cytokines TNF-α and IL-6, as well as intestinal mucosal injury indicators such as endotoxin (BT), D-lactate (D-Lac), and diamine oxidase (DAO). Analysis assessed the correlation between gut microbiota composition, inflammatory factors, and indicators of intestinal mucosal damage …


Timing Matters: Optimizing Oncology Involvement In Pediatric Neuro-Oncology Pathways In Saudi Arabia, Ali H. Algiraigri, Mohammed Basamh, Ghadeer Alobaid, Lama M. Alsulami, Razan A. Almutairi, Zahraa S. Alsultan, Rawan M. Hammad Apr 2026

Timing Matters: Optimizing Oncology Involvement In Pediatric Neuro-Oncology Pathways In Saudi Arabia, Ali H. Algiraigri, Mohammed Basamh, Ghadeer Alobaid, Lama M. Alsulami, Razan A. Almutairi, Zahraa S. Alsultan, Rawan M. Hammad

Neurosciences

Objective: To explore current practices and barriers in pediatric neuro-oncology care coordination, and to identify opportunities to optimize care pathways. Timely coordination between pediatric neurosurgery and oncology is critical for optimal outcomes in children with central nervous system (CNS) tumors. However, in many centers, pediatric oncologists are not involved until after surgery, which contributes to treatment delays and repeated procedures. Methods: A cross-sectional survey was conducted among neurosurgeons and pediatric oncologists in Saudi Arabia. The questionnaire addressed the timing of oncological involvement, neuroimaging practices, cerebrospinal fluid (CSF) cytology collection, and opinions on care coordination solutions. Results: A total of 62 …


Comparison Of Free-Hand Technique And Neuronavigation In Intraventricular Shunt Catheter Placement, Ümit Kocaman, Durmuş O Karakoyun, Emre Çavuşoğlu Apr 2026

Comparison Of Free-Hand Technique And Neuronavigation In Intraventricular Shunt Catheter Placement, Ümit Kocaman, Durmuş O Karakoyun, Emre Çavuşoğlu

Neurosciences

Objective: To compare the accuracy and clinical outcomes of proximal catheter placement using neuronavigation guidance versus the traditional free-hand technique in patients undergoing ventriculoperitoneal shunt (VPS) surgery. Methods: We performed a single-surgeon, before–after cohort study: free-hand cases (2013–2019) and neuronavigation cases (2020–2024). Ethics approval was obtained (İzmir Bakırçay University; Approval No. 2407; 20 Aug 2025). The primary endpoint was a composite of first-attempt ventricular entry and absence of postoperative day-1 (POD1) Grade-3 malposition. Secondary endpoints included grades, 12-month proximal tip dysfunction, and operative duration. Results: Fifty-two patients were included (neuronavigation N = 24; free-hand N = 28). Composite success was …


Science First, Formatting Second: Is It Feasible To Adopt A Free-Format Submission Policy?, Anas Alyazidi Apr 2026

Science First, Formatting Second: Is It Feasible To Adopt A Free-Format Submission Policy?, Anas Alyazidi

Neurosciences

No abstract provided.


Neuroinflammation At The Crossroads Of Neurodegeneration: The Roles Of Microglia And Astrocytes In Parkinson's Disease, Alzheimer's Disease, And Multiple Sclerosis, Mohannad A. Almikhlafi Apr 2026

Neuroinflammation At The Crossroads Of Neurodegeneration: The Roles Of Microglia And Astrocytes In Parkinson's Disease, Alzheimer's Disease, And Multiple Sclerosis, Mohannad A. Almikhlafi

Neurosciences

Neuroinflammation plays a critical role in the pathogenesis of neurodegenerative disorders such as Parkinson's disease, Alzheimer's disease, and multiple sclerosis. This review explores the underlying mechanisms of neuroinflammation, with a focus on the roles of microglia, astrocytes, peripheral immune cell infiltration, and cytokine release. The complex interplay between oxidative stress and chronic inflammation accelerates neurodegeneration, contributing to disease progression. Microglial activation, initially protective, becomes harmful when sustained over time, driving chronic inflammation. Similarly, astrocytes once considered passive are now recognized for their active involvement in both inflammatory and neuroprotective responses, depending on their activation state. Prolonged activation of microglia and …


Protein Intake In Children With Cerebral Palsy: A Narrative Review Highlighting The Implications Of Protein Intake On Muscle Mass, Growth, And Overall Nutritional Status, Manar Waleed Simbawa, Sheikha Nasser Alqahtnai Apr 2026

Protein Intake In Children With Cerebral Palsy: A Narrative Review Highlighting The Implications Of Protein Intake On Muscle Mass, Growth, And Overall Nutritional Status, Manar Waleed Simbawa, Sheikha Nasser Alqahtnai

Neurosciences

Children with cerebral palsy experience nutritional challenges that affect protein intake and may contribute to poor muscle mass and growth faltering. Since protein plays a major role in preserving muscle mass and supporting growth, ensuring adequate intake is critical. A comprehensive literature search was conducted for observational studies published between 2006 and 2025. The reviewed studies results were grouped into: [1] Protein intake, with values ranging from 0.66 to 4.1 g/kg/day, with higher intake observed among ambulatory or orally fed children, [2] Nutritional Status and Body Composition, as reduced muscle was reported in children with severe motor impairment, and [3] …


Role Of Bevacizumab In Multiple Glioblastomas: A Retrospective Single-Center Analysis, Yongrui Zhao, Yidong Chen, Leiming Wang, Ye Cheng, Feng Yan, Jiankun Xu Apr 2026

Role Of Bevacizumab In Multiple Glioblastomas: A Retrospective Single-Center Analysis, Yongrui Zhao, Yidong Chen, Leiming Wang, Ye Cheng, Feng Yan, Jiankun Xu

Neurosciences

Objective: To explore the prognostic factors of multiple glioblastomas (M-GBMs) and the role of bevacizumab (BEV) in M-GBMs. Methods: 162 patients treated for primary glioblastoma (GBM) from 2020 to 2024 were retrospectively reviewed. Kaplan–Meier analysis was performed to compare progression-free survival (PFS) and overall survival (OS) between the single glioblastoma (S-GBM) group and the M-GBMs group. Independent predictors of OS among M-GBMs patients were evaluated via multivariable Cox regression analysis. Results: 116 patients had S-GBM, and 46 had M-GBMs. Compared with S-GBM patients, M-GBMs patients had poorer PFS (6.5 vs. 11 months, p<0.001) and OS (15.5 vs. 21 months, p=0.005). In the M-GBMs group, based on the RANO resection criteria, both univariable analysis and multivariable Cox models confirmed that the extent of resection, use of radiotherapy and chemotherapy, p53 overexpression, and use of BEV were all factors that significantly influenced OS. Specifically, the use of BEV prolonged OS from 12 months to 19.5 months (p = 0.017). From the initiation of BEV therapy, the median PFS was 5.5 months (95% CI 4.45–6.56 months), and the median survival was significantly longer than in those who did not received BEV (10 vs. 3 months, p = 0.021). Conclusion: The extent of resection, radiotherapy/chemotherapy, p53 …


Evaluation Of Drug Use In Inpatient Care: A Retrospective Study At A Tertiary Hospital In Bandung, Indonesia (2024), Aliya Rosyidah Fitrianti, Athoya Delarosa, Husna Muharram Ahadi, Imam Adi Wicaksono, Falerina Puspita Apr 2026

Evaluation Of Drug Use In Inpatient Care: A Retrospective Study At A Tertiary Hospital In Bandung, Indonesia (2024), Aliya Rosyidah Fitrianti, Athoya Delarosa, Husna Muharram Ahadi, Imam Adi Wicaksono, Falerina Puspita

Pharmacology and Clinical Pharmacy Research

Rational drug use is a critical component of improving healthcare quality. However, irrational prescribing remains a significant concern, particularly in developing countries like Indonesia. This study evaluates drug use patterns at a Type B hospital in Bandung using WHO standard: average number of drugs per prescription, percentage of generic drugs, antibiotics, injections, and adherence to the National Formulary. A retrospective, descriptive observational method was applied, using 2024 inpatient Drug Use Evaluation (DUE) data. Findings reveal an average of 3.4 drugs per prescription—slightly above the WHO standard (≤ 3.3); 68.4% of prescriptions used generic drugs (meeting the WHO standard ≥ 59%); …


Network Analysis: An Application Of Graph Theory In Biology, Kiana Dunbar Apr 2026

Network Analysis: An Application Of Graph Theory In Biology, Kiana Dunbar

Honors Theses

Graphs are simple, visual representations of entities as nodes connected by edges. They are used to convey relationships within a system. Networks are comprised of interrelated entities that are not easily separable, producing complex, structured data. These can be seen in social groups, highway systems, and even in biological systems. This paper surveys concepts in graph theory for application to the analysis of network data to understand disease. The features of graphs provide a useful framework for thinking about relationships between different genes or proteins. The structure of graphs is also compatible with a variety of machine learning tools. Especially …


Admixture-Informed Polygenic Risk Reporting Using The Eprs Framework, Yu-Jyun Huang, Nuzulul Kurniansyah, Matthew O Goodman, Brian W Spitzer, Jiongming Wang, Adrienne Stilp, Cecelia Laurie, Paul S De Vries, Han Chen, Yuan-I Min, Mario Sims, Gina M Peloso, Xiuqing Guo, Joshua C Bis, Jennifer A Brody, Laura M Raffield, Jennifer A Smith, Wei Zhao, Jerome I Rotter, Stephen S Rich, Susan Redline, Myriam Fornage, Robert Kaplan, Nora Franceschini, Daniel Levy, Alanna C Morrison, Eric Boerwinkle, Nicholas L Smith, Charles Kooperberg, Bruce M Psaty, Sebastian Zöllner, Tamar Sofer Apr 2026

Admixture-Informed Polygenic Risk Reporting Using The Eprs Framework, Yu-Jyun Huang, Nuzulul Kurniansyah, Matthew O Goodman, Brian W Spitzer, Jiongming Wang, Adrienne Stilp, Cecelia Laurie, Paul S De Vries, Han Chen, Yuan-I Min, Mario Sims, Gina M Peloso, Xiuqing Guo, Joshua C Bis, Jennifer A Brody, Laura M Raffield, Jennifer A Smith, Wei Zhao, Jerome I Rotter, Stephen S Rich, Susan Redline, Myriam Fornage, Robert Kaplan, Nora Franceschini, Daniel Levy, Alanna C Morrison, Eric Boerwinkle, Nicholas L Smith, Charles Kooperberg, Bruce M Psaty, Sebastian Zöllner, Tamar Sofer

Faculty, Staff and Student Publications

Polygenic risk score values vary with genetic ancestry due to differences in population-specific allele frequencies and linkage disequilibrium patterns. We present a framework to calibrate polygenic risk scores based on ancestral makeup. We propose the "expected polygenic risk score" or ePRS, defined as the expected value of a polygenic risk score based on one's global or local admixture patterns. We further define the "residual polygenic risk score" or rPRS as measuring the deviation of the polygenic risk score from the ePRS. The ePRS reflects the baseline ancestry-driven component of genetic risk, whereas the rPRS isolates an ancestry-agnostic measure of genetic …


Inherited Tbx4 Frameshifting Variants Predicted To Escape Nonsense Mediated Decay In Two Families With Variable Phenotypes, Including Lethal Lung Developmental Disorders, Shruti A Pande, Hiuling Chan Joiner, Przemyslaw Szafranski, Tomasz Gambin, Michelle Wright, Qian Wang, Maiah Walters, Jan M Friedman, Jessica Saunders, Nicholas Avdimiretz, Cornelius F Boerkoel, Nahir Cortes-Santiago, Gail Deutsch, Pawel Stankiewicz Apr 2026

Inherited Tbx4 Frameshifting Variants Predicted To Escape Nonsense Mediated Decay In Two Families With Variable Phenotypes, Including Lethal Lung Developmental Disorders, Shruti A Pande, Hiuling Chan Joiner, Przemyslaw Szafranski, Tomasz Gambin, Michelle Wright, Qian Wang, Maiah Walters, Jan M Friedman, Jessica Saunders, Nicholas Avdimiretz, Cornelius F Boerkoel, Nahir Cortes-Santiago, Gail Deutsch, Pawel Stankiewicz

Faculty, Staff and Students Publications

Background: Pathogenic variants involving the transcription factor TBX4 gene have been associated with various skeletal and pulmonary abnormalities, including lethal lung developmental disorders (LLDD).

Methods: Whole-genome sequencing (WGS) with AI-powered platform for variant detection and interpretation followed by Sanger sequencing targeted variant segregation analysis were used. Reverse transcription quantitative PCR (RT-qPCR) and immunohistochemistry (IHC) studies were performed to assess gene and protein expression levels, respectively.

Results: We describe two unrelated families with intrafamilial variability in the TBX4 phenotypic expressivity, including LLDDs. WGS analyses revealed two frameshift variants, c.1019del; p.(Arg340GlnfsTer40) in the penultimate exon and c.1167dup; p.(Arg390GlnfsTer30) in the last exon …


Mislabeling And Inappropriate Analysis Render Interpretations From “The Effect Of The Participatory Heat Education And Awareness Tools (Heat) Intervention On Agricultural Worker Physiological Heat Strain: Results From A Parallel, Comparison, Group Randomized Study” Unreliable, Chelsi M Webster, Yasaman Jamshidi-Naeini, Lilian Golzarri-Arroyo, Colby J Vorland, Zachary J Schlader, Blair D Johnson, David B Allison Apr 2026

Mislabeling And Inappropriate Analysis Render Interpretations From “The Effect Of The Participatory Heat Education And Awareness Tools (Heat) Intervention On Agricultural Worker Physiological Heat Strain: Results From A Parallel, Comparison, Group Randomized Study” Unreliable, Chelsi M Webster, Yasaman Jamshidi-Naeini, Lilian Golzarri-Arroyo, Colby J Vorland, Zachary J Schlader, Blair D Johnson, David B Allison

Faculty, Staff and Students Publications

No abstract provided.


Mechanistic Insights Into Enterolactone-Mediated Glut4-Dependent Glucose Uptake, Merritt Smith Apr 2026

Mechanistic Insights Into Enterolactone-Mediated Glut4-Dependent Glucose Uptake, Merritt Smith

Senior Honors Theses

Type 2 diabetes mellitus (T2D) is one of the leading causes of morbidity and mortality in the United States, with approximately 25% of healthcare expenditures directed toward its management and associated metabolic complications. In response to the urgent need for novel therapeutic strategies, recent research has focused on bioactive compounds derived from dietary sources. In light of that, we identified the plant lignan matairesinol (MA) and its gut-derived metabolite, enterolactone (ENL), as agents capable of enhancing glucose uptake in 3T3-L1 differentiated adipocytes. These results suggest that enterolactone may represent a promising dietary supplement for improving glycemic control in patients with …


Time And Dose Dependent Effects Of Adipose-Derived Stromal Vascular Fraction Exosomes On Human Dental Pulp Stem Cell Proliferation, Sylva Dinie Alinda, Anggraini Margono, Indah Julianto, Dini Asrianti Bagio Apr 2026

Time And Dose Dependent Effects Of Adipose-Derived Stromal Vascular Fraction Exosomes On Human Dental Pulp Stem Cell Proliferation, Sylva Dinie Alinda, Anggraini Margono, Indah Julianto, Dini Asrianti Bagio

Journal of Dentistry Indonesia

Background: Cell proliferation is essential for tissue repair and immunomodulation in regenerative dentistry. Adipose-derived stromal vascular fraction (AD-SVF) is a promising autologous source for tissue engineering. Its exosomes (AD-SVF Exo), as cell-free products stable under ischemic conditions, represent an ethical and attractive modality for dental tissue regeneration and broader regenerative applications. Prior study indicates that AD-SVF Exo can enhance human dental pulp stem cell (hDPSC) migration and proliferation, particularly at low concentrations, but their detailed time- and dose-dependent proliferative effects remain unclear. This study aimed to investigate the time- and dose-dependent effects of low-concentration AD-SVF Exo on hDPSC proliferation …


Comparative Analysis Of The Quality Of Life Of Schizophrenic Patients On Antipsychotic Treatment Between Aripiprazole Monotherapy And Combination Of Risperidone-Clozapine At Mental Hospital In West Java, Taufiqurahman Taufiqurahman, Sani Asmi Ramdani Lestari, Ardilla Kemala Dewi Apr 2026

Comparative Analysis Of The Quality Of Life Of Schizophrenic Patients On Antipsychotic Treatment Between Aripiprazole Monotherapy And Combination Of Risperidone-Clozapine At Mental Hospital In West Java, Taufiqurahman Taufiqurahman, Sani Asmi Ramdani Lestari, Ardilla Kemala Dewi

Pharmacology and Clinical Pharmacy Research

Quality of life (QoL) is a critical outcome measure in schizophrenia management, yet antipsychotic side effects may negatively impact patients' well-being. Objective: This study aimed to compare the QoL of schizophrenia patients receiving aripiprazole monotherapy versus a risperidone-clozapine combination at West Java Mental Hospital. An analytical observational study with a cross-sectional design was conducted at the outpatient clinic of West Java Mental Hospital from March to May 2025. The Indonesian version of the WHOQOL-BREF questionnaire was used to assess QoL. A total of 58 outpatients with schizophrenia who met the inclusion criteria were enrolled, comprising 28 patients in the aripiprazole …


Adherence To Malaria Treatment And Its Associated Factors: A Narrative Review, Lafie Urwatul Wutsqo, Eli Halimah, Sofa Dewi Alfian Apr 2026

Adherence To Malaria Treatment And Its Associated Factors: A Narrative Review, Lafie Urwatul Wutsqo, Eli Halimah, Sofa Dewi Alfian

Pharmacology and Clinical Pharmacy Research

Malaria is an infectious disease that remains a global health concern, particularly in Asia and Africa. The success of malaria medication largely depends on patients' adherence to the prescribed therapeutic regimen. This article aims to identify the level of adherence to malaria treatment and the factors that influence it, based on observational studies. A narrative review was conducted using the PRISMA approach, involving 12 articles published between 2019 - 2023 from various countries. The results indicate that adherence levels vary widely, ranging from 15.6% to 93.31%, depending on respondent characteristics and the intervention strategies implemented. Factors influencing adherence include patient-related …


Patterns Of Adverse Drug Reactions In Tuberculosis Treatment: A Literature Review, Jasmine R. Aisyah, Ivan S. Pradipta, Widya N. Insani Apr 2026

Patterns Of Adverse Drug Reactions In Tuberculosis Treatment: A Literature Review, Jasmine R. Aisyah, Ivan S. Pradipta, Widya N. Insani

Pharmacology and Clinical Pharmacy Research

Tuberculosis (TB) treatment is often interrupted by adverse drug reactions (ADRs). However, few studies have thoroughly examined these ADR patterns in TB treatment, and no research has assessed the prevalence of ADRs in specific organs. This narrative review describes the patterns of ADRs in tuberculosis treatment, including how common each type is and its impact on organs across different countries and populations. A structured narrative literature review was conducted to identify relevant original studies published in PubMed database between 2019 and 2025. The search combined Medical Subject Headings (MeSH) and free-text terms related to ``tuberculosis'' and ``adverse drug reactions''. Eligible …


Comparison Of Chop And R-Chop For Treatment Non-Hodgkin Lymphoma, Yogyakarta, Indonesia: A Cost-Effectiveness Analysis, Woro Supadmi, Rizky Gustinanda, Lalu M. Irham, Riat El Khair Apr 2026

Comparison Of Chop And R-Chop For Treatment Non-Hodgkin Lymphoma, Yogyakarta, Indonesia: A Cost-Effectiveness Analysis, Woro Supadmi, Rizky Gustinanda, Lalu M. Irham, Riat El Khair

Pharmacology and Clinical Pharmacy Research

CHOP and R-CHOP are commonly used chemotherapy regimens for Non-Hodgkin Lymphoma (NHL). While R-CHOP has demonstrated clinical benefits, its higher cost raises concerns regarding economic efficiency, particularly in middle-income countries such as Indonesia. This study aimed to compare direct medical costs and clinical outcomes of CHOP and R-CHOP regimens among NHL patients treated at a national referral hospital in yogykarta. A retrospective cohort study was conducted using medical record data of NHL patients who received CHOP or R-CHOP chemotherapy at Dr. Sardjito General Hospital Yogyakarta, between 2020 and 2023, with follow-up extended until April 30, 2025. Clinical outcomes included overall …


Balanced Scorecard In Healthcare Facilities: A Ten-Year Review Of Strategies To Improve Organizational Effectiveness, Larasati Tunggadewi, Sofa Dewi Alfian, Auliya A Suwantika Apr 2026

Balanced Scorecard In Healthcare Facilities: A Ten-Year Review Of Strategies To Improve Organizational Effectiveness, Larasati Tunggadewi, Sofa Dewi Alfian, Auliya A Suwantika

Pharmacology and Clinical Pharmacy Research

The Balanced Scorecard (BSC) has increasingly been adopted as a strategic performance management framework within healthcare organizations. Evidence from the past decade shows varied implementation outcomes, shaped by institutional readiness, leadership commitment, and the maturity of health information systems. This narrative review synthesizes findings from 47 scientific articles selected through a systematic screening process, covering studies conducted in hospitals, primary health centers, and pharmacy units in Indonesia, Morocco, Iran, China, and other countries. The studies employed case study and descriptive cross-sectional designs using both quantitative and qualitative approaches. Overall, BSC implementation contributed to improvements in service performance across the financial, …


Exploring Protein-Protein Interactions: A Promising Avenue For Biomarker And Anti-Tb Drug Development, Rajwa Dwifauza Suryanto, Maritsa Widati Aqila Rumawan, Imam Adi Wicaksono Apr 2026

Exploring Protein-Protein Interactions: A Promising Avenue For Biomarker And Anti-Tb Drug Development, Rajwa Dwifauza Suryanto, Maritsa Widati Aqila Rumawan, Imam Adi Wicaksono

Pharmacology and Clinical Pharmacy Research

In 2023, tuberculosis (TB) reached its highest incidence with 8.2 million new cases reported by the World Health Organization (WHO). The virulence of Mycobacterium tuberculosis (MTB) is strongly governed by protein-protein interactions (PPIs) that regulate essential processes such as cell wall biosynthesis, immune evasion, and persistence. This study aims to map and analyze the mechanisms of key PPIs in MTB using a scoping review approach. Data was retrieved from PubChem and related literature with the keyword ``PPIs Network TB''. Our findings highlight crucial PPI-driven mechanisms, including the role of DprE1/DprE2 in arabinogalactan synthesis, VapB4/VapC4 in stress response and self-toxicity, ESX-1 …


Low To Moderate Intensity Home-Based And Online Exercise For Cognitive Health In Older Adults: A Narrative Review, Novita Salim, Melisa Intan Barliana, Anna Meiliana Apr 2026

Low To Moderate Intensity Home-Based And Online Exercise For Cognitive Health In Older Adults: A Narrative Review, Novita Salim, Melisa Intan Barliana, Anna Meiliana

Pharmacology and Clinical Pharmacy Research

Cognitive decline represents one of the most pressing public health challenges associated with global population ageing, prompting growing interest in accessible and scalable exercise-based interventions. This narrative review synthesizes evidence from 15 randomized controlled trials to compare the cognitive effects of 3 exercise modalities in older adults across varying cognitive and functional profiles: conventional aerobic and resistance training, exergame-based interventions, and dual-task or multicomponent training. Interventions were evaluated on their capacity to improve global cognition, executive function, working memory, and attention, with additional consideration of adherence, supervision format, and implementation feasibility. The evidence consistently demonstrates that dual-task and multicomponent training …