Digital Commons Network^™

Pregnancy Outcomes In Systemic Sclerosis Before And After Diagnosis: A Retrospective Nationwide Cohort Study, Alper Doğanci, Serdar Can Güven, Nuray Yilmaz Çakmak, Rifat Bozkuş, Sali̇h Başer, Eki̇n Doğanci, Nesli̇han Öztürk, Şuayi̇p Bi̇ri̇nci̇, Nai̇m Ata

Turkish Journal of Medical Sciences

Background/aim: Pregnancy outcomes in women with systemic sclerosis (SSc) were evaluated in a nationwide cohort study. The impact of the disease on pregnancy outcomes was further assessed by comparing outcomes before and after the diagnosis of systemic sclerosis.

Materials and methods: A retrospective, nationwide, multicenter study was conducted under the supervision of the Ministry of Health. A nationwide cohort was between 1 January 2018, and 31 October 2025, including female patients with at least two recorded ICD codes for SSc (M34 subcategories) at an interval of at least 1 month, who were identified as pregnant before (pre-SSc) or after SSc …

Effects Of Repetitive Peripheral Magnetic Stimulation On Poststroke Ankle Spasticity: A Double-Blind Randomized Controlled Trial, Hüseyi̇n Oğuzhan Aslantaş, Şehi̇m Kutlay, Haydar Gök, Semra Özkan, Seçi̇lay Güneş, Ati̇lla Hali̇l Elhan

Turkish Journal of Medical Sciences

Background/aim: Repetitive peripheral magnetic stimulation (rPMS) is a noninvasive, painless therapy aimed at improving spasticity, with a proposed mechanism that involves neuromodulation through somatosensory and proprioceptive afferent stimulation. The present study evaluates the effectiveness of rPMS on ankle plantar flexor spasticity in participants with stroke.

Materials and methods: Included in this prospective, double-blind, randomized, sham-controlled study were 50 participants with poststroke ankle plantar flexor spasticity graded 1–3 according to Modified Ashworth Scale (MAS). Participants were randomized into rPMS (n = 25) and sham (n = 25) groups. All participated in a conventional rehabilitation program, while the rPMS group received 10 …

Skin Cancer Surgery Under Local Anesthesia: Clinicopathologic Characteristics And Age-Stratified Outcomes In 533 Patients, Menekşe Kastamoni̇ Başkan, Süleyman Çeçen, Selçuk Akin, Şaduman Balaban Adim, Güzi̇n Yeşi̇m Özgenel

Turkish Journal of Medical Sciences

Background/aim: Skin cancer is the most common malignancy worldwide, particularly among elderly individuals. Many lesions are detected at an early stage because of their visibility and can be excised under local anesthesia, thereby avoiding the risks associated with general anesthesia or sedation. This study aimed to evaluate patient- and tumor-related characteristics in skin cancer surgery performed under local anesthesia, with particular emphasis on age-related outcomes.

Materials and methods: This retrospective study included 533 patients with 613 histopathologically confirmed skin cancers excised under local anesthesia between 2019 and 2024. Demographic, histopathological, and surgical variables were recorded, including age, sex, tumor location, …

Comparison Of Ultrasound-Guided Serratus Posterior Superior Intercostal Plane Block And Thoracic Paravertebral Block For Postoperative Analgesia After Breast Surgery: A Prospective Randomized Noninferiority Trial, Mustafa Sirri Kotanoğlu, Musa Zengi̇n, Onur Küçük, Atakan Sezgi̇, İbrahi̇m Topcu, Aras Meti̇n, Zeynep Ersoy, Jüli̇de Ergi̇l

Turkish Journal of Medical Sciences

Background/aim: This noninferiority trial aimed to evaluate whether the serratus posterior superior intercostal plane block (SPSIPB) provides noninferior postoperative analgesia compared with the thoracic paravertebral block (TPVB) after unilateral mastectomy.

Materials and methods: This prospective, randomized, assessor-blinded, parallel-group noninferiority trial enrolled 60 female patients scheduled for elective unilateral mastectomy. Patients received either ultrasound-guided SPSIPB (n = 30) or TPVB (n = 30) with 30 mL of 0.25% bupivacaine before induction. The primary outcome was visual analogue scale (VAS) pain scores (0–100 mm) at rest and during coughing over 24 h. Noninferiority was assessed using the Hodges–Lehmann median difference with 95% …

Comprehensive Geriatric Assessment Identifies Multidimensional Vulnerabilities In Older Adults With Heart Failure, Ci̇han Kiliç, Rengi̇n Demi̇r, Özlem Yilmaz Aykent, Zerri̇n Yi̇ği̇t, Pinar Küçükdağli, Banu Özulu Türkmen, Güli̇stan Bahat, Mehmet Aki̇f Karan

Turkish Journal of Medical Sciences

Background/aim: Heart failure (HF) in older adults is frequently accompanied by geriatric syndromes that remain unrecognized in conventional cardiac evaluations. The vulnerabilities of older adults with and without HF in terms of muscle strength, physical performance, functional capacity, frailty, nutritional status, cognition, mood, anxiety, polypharmacy, and comorbidity were investigated using comprehensive geriatric assessment (CGA).

Materials and methods: A cross-sectional study was conducted in two academic outpatient clinics, enrolling 420 adults aged ≥60 years, including 92 (21.9%) with HF. Data included sociodemographic characteristics, anthropometric measurements, and CGA parameters: handgrip strength, the Five-Times Sit-to-Stand Test (FTSST), the Short Physical Performance Battery (SPPB), …

Clinical, Hormonal, And Treatment Outcomes In 247 Patients With Acromegaly: A Single Tertiary Center Experience, Ümran Gül, Beki̇r Uçan, Hayri̇ Bostan, Hakan Düğer, Hayri̇ Kertmen, Caner Ünlüer, Hali̇l Durantaş, Oğulcan Boz, Ceren Karaçalik Ünver, Burak Menekşe, Sema Hepşen, İlknur Öztürk Ünsal, Mustafa Özbek, Erman Çakal, Muhammed Kizilgül

Turkish Journal of Medical Sciences

Background/aim: This study aimed to evaluate the demographic, clinical, and hormonal characteristics; comorbidities; surgical pathology; treatment modalities; and long-term clinical outcomes of patients diagnosed with and managed for acromegaly at our tertiary referral center over a 15-year period.

Materials and methods: Between 2010 and 2024, 247 patients with acromegaly were evaluated. Diagnosis and biochemical remission were determined according to the 2024 Acromegaly Consensus Criteria.

Results: The median follow-up duration was 8 years (IQR: 3–14). At the time of diagnosis, the most frequent pituitary hormone deficiency was secondary adrenal insufficiency, present in 17.8% of patients. The most common comorbidities were hypertension …

Timing Of Kirschner Wire Removal In Pediatric Supracondylar Humerus Fractures: Is Early Removal A Safe And Effective Option?, Mustafa Kemal Yeni̇dünya, Si̇nan Yüksel, İbrahi̇m Faruk Adigüzel, Serhat Di̇nç, Önder Ersan

Turkish Journal of Medical Sciences

Background/aim: The optimal timing of Kirschner wire removal following the surgical treatment of pediatric supracondylar humerus fractures remains controversial. This study aimed to compare the clinical and radiographic outcomes of early versus late K-wire removal and to contribute to the standardization of the timing of pin removal in pediatric patients.

Materials and methods: This retrospective study included 90 pediatric patients (aged 4–14 years) treated with closed reduction and percutaneous pinning for Gartland type III and IV supracondylar humerus fractures. Patients were grouped according to the timing of pin removal as early (postoperative days 21–28, n = 40) or late (after …

Bridging The Methodological Gap In Multitrauma Literature: A Competency-Based Educational Framework And Clinical Appraisal Filter, Şaki̇r Hakan Aksu, Burcu Doğan, Merve Yazla

Turkish Journal of Medical Sciences

Background/aim: The statistical complexity of contemporary multitrauma literature has increased considerably in recent years, which may pose challenges for clinicians seeking to interpret high-impact research and apply evidence-based practices. Characterizing this methodological landscape and exploring education-oriented approaches may help to improve the interpretability of the literature and support informed clinical decision-making.

Materials and methods: A cross-sectional analysis was conducted on the 100 most-cited multitrauma studies published in Science Citation Index Expanded journals indexed in the Web of Science database between January 2018 and November 2025. The statistical methods used in each article were categorized into the three competency levels of …

Common Femoral Vein Wall Thickness As A Supportive Imaging Marker In The Differential Diagnosis Of Behçet’S Uveitis, Seda Kutluğ Ağaçkiran, Esra Kardeş, Abdulbaki̇ Ağaçkiran, Haner Di̇reskeneli̇, Fatma Ali̇baz-Öner

Turkish Journal of Medical Sciences

Background/aim: Ocular involvement is a major cause of morbidity in Behçet’s disease (BD), and its diagnosis may be challenging, particularly for patients with isolated ocular manifestations or incomplete fulfillment of diagnostic criteria. Increased common femoral vein (CFV) wall thickness measured by Doppler ultrasonography (US) has previously been shown to be a sensitive and specific marker for systemic BD. This study aimed to evaluate whether CFV wall thickness measurement may serve as a supportive tool in distinguishing Behçet’s uveitis (BU) from other forms of inflammatory uveitis.

Materials and methods: This retrospective study included 45 patients with BU fulfilling the International Study …

Clinical Outcomes Of Injectable And Conventional Pulmonary Valve Replacement In Severe Pulmonary Regurgitation, Sercan Tak, Murat Koç, Ali̇ Kutsal, Vehbi̇ Doğan

Turkish Journal of Medical Sciences

Background/aim: Pulmonary regurgitation following tetralogy of Fallot repair is a common long-term complication requiring pulmonary valve replacement. Injectable bioprosthetic valves offer a less invasive alternative to conventional surgical replacement, but comparative data in pediatric populations remain limited. This study aimed to evaluate short-term and long-term clinical outcomes of injectable pulmonary valve replacement and conventional pulmonary valve replacement in pediatric patients with severe pulmonary regurgitation following tetralogy of Fallot repair.

Materials and methods: This retrospective study included 22 pediatric patients who underwent pulmonary valve replacement. Patients were divided into injectable (n = 9) and conventional (n = 13) groups based on …

Reliability And Validity Of The Turkish Version Of The Barthel Index-Dyspnea In Patients With Pulmonary Hypertension, Pinar Merç, Rengi̇n Demi̇r, Meli̇h Zeren, Habi̇be Durdu, Ümi̇t Yaşar Si̇nan, Mehmet Serdar Küçükoğlu

Turkish Journal of Medical Sciences

Background/aim: The Barthel Index-dyspnea (BI-d) is a respiratory disease-specific tool developed on the basis of the Barthel Index (BI), which provides a simple and quick way to measure the degree of dyspnea in activities of daily living (ADL). Dyspnea is one of the most common symptoms of pulmonary hypertension (PH). The objective of this study was to explore the reliability and validity of the Turkish version of the BI-d in patients with PH.

Materials and methods: A total of 73 PH patients were included in the study. Criterion validity was explored using the modified Medical Research Council (mMRC) dyspnea scale, …

Alterations In Gut Microbiota Composition In Adult Patients With Familial Mediterranean Fever: A Pilot Case–Control Study, Nazi̇fe Şule Yaşar Bi̇lge, Vicente Pérez Brocal, Ti̇muçi̇n Kaşi̇foğlu, Uğur Bi̇lge, Ni̇lgün Kaşi̇foğlu, Andres Moya, Ener Çağri Di̇nleyi̇ci̇

Turkish Journal of Medical Sciences

Background/aim: Although familial Mediterranean fever (FMF) is a monogenic disease, recent evidence suggests that the gut microbiota may play a role in its pathogenesis or phenotypic expression. We conducted a pilot exploratory study to evaluate the intestinal microbiota composition in patients with FMF and compare it to that of healthy controls.

Materials and methods: In this prospective cohort study, 10 adult patients with FMF receiving colchicine and 10 age- and sex-matched healthy controls were enrolled. Fecal samples were collected and stored at –80 °C until DNA extraction. The V3–V4 region of the 16S rRNA gene was amplified and sequencing was …

Hla Allele And Haplotype Diversity In Central Anatolia: A Comparative Analysis Of Donors And Transplant Candidates Across Six Hla Loci (Hla-A, Hla-B, Hla-C, Hla-Drb1, Hla-Dqb1, And Hla-Dpb1), Emel Yantir, Eren Gündüz, Ertuğrul Çolak

Turkish Journal of Medical Sciences

Background/aim: Human leukocyte antigen (HLA) polymorphisms play a central role in immune recognition, disease susceptibility, and transplant success. The distribution of HLA alleles and haplotypes varies among ethnic and geographic populations. Despite several regional studies conducted in Türkiye, large-scale and comprehensive investigations comparing HLA profiles between healthy individuals and transplant candidates remain limited. The aim of this study was to compare the distribution of HLA profiles among donors, hematopoietic stem cell transplantation (HSCT) candidates, and solid organ transplant candidates.

Materials and methods: A total of 8472 individuals were included in the study, comprising 6422 donors and 2050 transplant candidates. HLA …

Vnotes High Uterosacral Ligament Suspension Versus Laparoscopic Lateral Suspension In The Management Of Vaginal Vault Prolapse: Initial Experience In A Single Tertiary Center, Ramazan Adan, Fati̇h Şahi̇n, Ulya Üskent, Mehmet Gökhan Çulha, Arzu Bi̇lge Teki̇n

Turkish Journal of Medical Sciences

Background/aim: The optimal technique for vaginal vault prolapse correction has yet to be identified. This study aimed to evaluate the anatomic and functional outcomes of women who underwent vaginal natural orifice transluminal endoscopic high uterosacral ligament suspension (vNOTES HUSLS) or laparoscopic lateral suspension (LLS).

Materials and methods: This retrospective study included symptomatic women with stage ≥2 vault prolapse who underwent vNOTES HUSLS or LLS between January 2019 and June 2022 at a tertiary center. The surgical efficacy, postoperative outcomes, complication rates, and recurrence frequencies of these procedures were compared. The primary outcomes of the study included anatomical success, patient-reported (subjective) …

Optimistic And Ambivalent Attitudes Toward Clinical Artificial Intelligence, Sevi̇l Uygun İli̇khan, Si̇nem Ülke, Mahmut Özer, Matjaž Perc, Yavuz Ayhan

Turkish Journal of Medical Sciences

Background/aim: Artificial intelligence (AI) is increasingly being integrated into healthcare systems; however, healthcare professionals’ knowledge, attitudes, and perceptions regarding AI remain insufficiently understood. This study aimed to evaluate healthcare professionals’ perceptions of AI in clinical practice.

Materials and methods: This descriptive cross-sectional study included 260 healthcare professionals, including physicians, nurses, and healthcare technicians working at a tertiary public hospital in Türkiye. Participants completed the Healthcare Professionals and Artificial Intelligence Questionnaire, which assessed demographic characteristics, AI knowledge, workplace AI use, attitudes toward AI applications, ethical and legal concerns, perceived professional impact, and educational needs.

Results: Most participants reported limited AI knowledge; …

In Silico Evaluation Of The Role Of Pea3 Subfamily Ets Transcription Factors In Chemoresistance In Ovarian Cancer, Fevzi̇ Coşkun Sökmen, Lai̇ka Kardana, Hi̇kmet Yilmaz, Ahmet Çağlar Özketen, Aynur Karadağ Gürel, Özge Atay, Hasan Hüseyi̇n Kazan

Turkish Journal of Medical Sciences

Background/aim: The E26 transformation-specific family of transcription factors regulates the cell cycle and apoptosis that are crucial for carcinogenesis. More specifically, the PEA3 subfamily—comprising ETS variant (ETV) transcription factors ETV1, ETV4, and ETV5—has been implicated in multiple oncogenic signaling pathways and chemotherapy resistance. While cisplatin is still a widely used chemotherapeutic treatment for ovarian cancer, its therapeutic efficacy is sometimes limited by the induction of resistance mechanisms. The present study investigates the potential role of PEA3 subfamily genes in cisplatin resistance in ovarian cancer through comprehensive in silico analyses.

Materials and methods: Cisplatin response data for ovarian cancer were obtained …

Omega-3–Rich Fish Oil Lipid Emulsions Significantly Prevent Sepsis-Driven Mesenteric Hypoperfusion And Multi-Organ Injury In Murine Models, Gökşen Öz, Esi̇n Özçelebi̇, Ayşe Yeşi̇m Göçmen, Cenk Sükmensüer, Selma Yildirim, Arzu Topeli̇, Alper Bektaş İski̇t

Turkish Journal of Medical Sciences

Background/aim: Parenteral feeding is used in critically ill patients when enteral nutrition is inadequate or intolerable, and the gastrointestinal tract is not functioning properly. Lipid emulsions play a major role in parenteral nutrition because they supply necessary fatty acids and a high-calorie density. We investigated the effects of parenteral lipid emulsions on mesenteric perfusion, inflammation-induced oxidation, and organ damage in lipopolysaccharide-induced mice endotoxemia model.

Materials and methods: In septic mice, organ damage induced by lipopolysaccharide was assessed by histopathology and biochemical examination. Additionally, an ultrasonic blood flowmeter was used to measure the impact of lipid emulsions on mesenteric blood flow. …

Letter To The Editor: Telemedicine Versus Conventional Care For Nonspecific Neck Pain: A Randomized Controlled Study, Gülsemi̇n Ertürk Çeli̇k

Turkish Journal of Medical Sciences

No abstract provided.

Macropinocytosis Inhibition Attenuates Profibrotic Responses In Lung Fibroblasts And Pulmonary Fibrosis Models, Ivan O Rosas, Aaron K Mcdowell-Sanchez, Santiago Sanchez, Juan D Cala-Garcia, Alan R Waich Cohen, Elisa Ruiz-Echartea, Scott A Ochsner, Daniel C Kraushaar, Lindsay J Celada, Dandan Sun, Francesca Polverino, Cristian Coarfa, Neil J Mckenna, Konstantin Tsoyi

Faculty, Staff and Students Publications

Idiopathic pulmonary fibrosis (IPF) is a devastating chronic lung disorder with limited treatment options. Macropinocytosis is one of the key cellular processes involved in nutrient consumption from the extracellular environment under stress conditions. Here, we studied the role of macropinocytosis in experimental pulmonary fibrosis models. We found that macropinocytosis is increased in human lung fibroblasts (HLFs) derived from patients with IPF. The inhibition of macropinocytosis with 5-(n-ethyl-n-isopropyl)-amiloride (EIPA) inhibited profibrotic responses in IPF-derived and TGF-β1-stimulated HLFs and reduced pulmonary fibrosis in bleomycin-injured (Bleo-injured) mice. EIPA exerted its antifibrotic effects by regulating amino acid uptake, mammalian target of rapamycin complex 1 …

Ultrasound-Enabled Refreshable Electrochemical Sensors For Cardiac Biomarker Monitoring, Mayank Garg, Heng Guo, Myeong Namkoong, Elizabeth Zhanov, Connor Malone, Md Saifur Rahman, Ayse Akcan-Arikan, Limei Tian

Faculty, Staff and Students Publications

Cardiac troponin I (cTnI) is the gold-standard biomarker for acute myocardial infarction, yet current laboratory-based high-sensitivity assays require centralized infrastructure, trained personnel, and serial testing, limiting their suitability for real-time or continuous monitoring in resource-limited settings. Point-of-care electrochemical sensors have shown promise for rapid cTnI detection, but their reliance on antibodies as biorecognition elements and redox mediator solutions, and single-use operation restricts practical translation. Here, we report an ultrasound-enabled refreshable electrochemical biosensor for sensitive, stable, and repeatable cTnI monitoring. The device employs a cTnI-specific peptide as the biorecognition element, providing enhanced stability during storage, transport, and operation. Label-free electrochemical impedance …

Differential Roles Of Moesin And Vasp In Β-Catenin-Associated Networks During Zebrafish Heart Regeneration, Allen Rutman

Undergraduate Theses, Capstones, and Recitals

With cardiovascular disease remaining as the leading cause of mortality worldwide, it is largely due to the limited regenerative capacity of the human heart. However, zebrafish (Danio rerio) can fully regenerate cardiac tissue following injury, providing a valuable model for studying the mechanisms of heart repair. To investigate these mechanisms, we used proteomics methods in the past. Proximity labeling is a technique that identifies proteins based on their physical proximity to a protein of interest. It can be applied in organisms and in living cells (Roux et al., 2012; Cho et al., 2020). We used proximity labeling to characterize protein …

Artificial Intelligence In Biomedical Scientific Publishing, Tomasz J Guzik, Victor Aboyans, Stefan Agewall, Steven Bailey, Adrian Baranchuk, Magnus Bäck, Michael Böhm, Robert O Bonow, George W Booz, Giuseppe Boriani, Biykem Bozkurt, Nico Bruining, Davide Capodanno, Çetin Erol, Péter Ferdinandy, Alessia Gimelli, Gerd Heusch, Thomas Kahan, Chim Choy Lang, Gerald Maurer, Robert J Mentz, Marco Metra, Philip Moons, Daniel Piskorz, Massimo Piepoli, Piotr Ponikowski, Alexandra Popma, Bianca Rocca, Juan Sanchis Fores, Philipp Sommer, Rhian M Touyz, Zoltan Ungvari, Pascal Vranckx, Joseph A Hill, Thomas F Lüscher, Filippo Crea

Faculty, Staff and Students Publications

Artificial intelligence is now embedded across the scientific research and publishing ecosystem, influencing discovery, analysis, knowledge translation, authorship, peer review, and editorial workflows. In cardiovascular and biomedical sciences, these developments offer substantial opportunities to accelerate knowledge generation, integrate complex datasets, and improve efficiency and consistency. At the same time, they introduce new risks related to bias, transparency, data integrity, and authorship responsibility, potentially endangering trust in the scientific record. This commentary examines the evolving role of AI in biomedical publishing, with particular attention to generative models and machine learning tools. We review both benefits and limitations, highlight risks such as …

Nurses’ Knowledge Regarding Ventilator-Associated Pneumonia Prevention Bundle In Adult Cardiac Care Units, Marwa Abdo

Nursing

Ventilator-associated pneumonia (VAP) is among the most common ICU infections for ventilated patients, associated with increased mortality (20-50%), morbidity, and health care costs. Nurses' knowledge of VAP prevention bundles is vital to reducing its incidence in critical care areas. Aim: To assess Nurses’ knowledge regarding the ventilator-associated pneumonia prevention bundle in Adult Cardiac Care Units. Study design: A cross-sectional study design was used. Setting: This study was conducted in both the adult cardiac intensive care unit and the cardiac care unit at Aswan Heart Centre–Magdy Yacoub Foundation, Egypt. Subject: A convenience sample of 67 nurses was selected. Data collection tool: …

Single-Nucleus Profiling Reveals A Core Disease Signature And Cell Type-Specific Vulnerabilities In Early Rett Syndrome, Yan Li, Ashley G Anderson, Guantong Qi, Sih-Rong Wu, Jean-Pierre Revelli, Hu Chen, Zhandong Liu, Huda Y Zoghbi

Faculty, Staff and Students Publications

Rett syndrome (RTT) is an X-linked neurological disorder caused by MECP2 mutations, creating distinct cellular environments in females (mosaic) versus males (nonmosaic). Despite female patients representing most cases, how mosaicism contributes molecularly to RTT pathogenesis, particularly in presymptomatic stages, remains poorly understood. To address this question, we profiled hippocampal transcriptomes of young female and male RTT mice using bulk and single-nucleus RNA sequencing. We identified a core disease signature of consistently dysregulated genes only in MeCP2− cells across RTT models. Moreover, we uncovered non–cell autonomous effects exclusively in female MeCP2+ excitatory neurons, suggesting that these circuits are more vulnerable early …

The Gut Microbiome, The Gut-Brain Axis, And College Student Well-Being, Idi Mckay

University Honors Theses

This literature review examines how diet, stress, environmental exposure, and food accessibility may influence college students' mental health and academic performance through the gut microbiome and the Gut-Brain Axis (GBA). Current microbiome research often focuses on early childhood development, clinical disease populations, or older adults, while overlooking college-age students who experience significant social, environmental, and biological transitions. College students frequently face food insecurity, irregular eating patterns, chronic stress, inconsistent sleep schedules, and reduced access to nutrient-dense foods, all of which may influence microbial diversity and overall gut health.

This thesis explores how modern campus environments and lifestyle factors may contribute …

Targeted Next-Generation Sequencing Implementation In Eswatini Identifies Rifampicin And Bedaquiline Resistance Undetected By Routine Diagnostic Testing, Debrah Vambe, Alexander Kay, Mangaliso Ziyane, Mdigo Thunzini, Sein Sein Thi, Leonardo De Araujo, Viola Dreyer, Tanja Niemann, Busizwe Sibandze, Sijabu Masina, Andrea Maurizio Cabibbe, Jennifer Furin, Tafadzwa Mazuruse, Lindokuhle Dlamini, Thulani Jele, Bheki Mamba, Gugu Maphalala, Makhosazana Dlamini, Mbongeni Dube, Nomthandazo Lukhele, Daniela Maria Cirillo, Anna Mandalakas, Christoph Lange, Sphiwe Ngwenya, Christian Utpatel, Sindisiwe Dlamini, Stefan Niemann

Faculty, Staff and Students Publications

In Eswatini, multidrug-resistant (MDR) Mycobacterium tuberculosis (Mtb) strains harbouring the rifampicin-resistance (RR) rpoB I491F mutation are missed by routine diagnostics, including GeneXpert MTB/RIF Ultra (Xpert Ultra), line probe assays (LPA), and mycobacterium growth indicator tube (MGIT) phenotypic drug susceptibility testing (pDST). To address this diagnostic gap, Eswatini introduced targeted next-generation sequencing (tNGS) in 2019. We analysed 234 patient samples enrolled from June 2021 to December 2024 with isoniazid and/or rifampicin resistance detected by routine diagnostics, or suspected treatment failure, and obtained detailed clinical and outcome data from 59 patients. tNGS detected RR in 159 strains, of which 101 (64%) carried …

Whole-Genome Variant Detection In Long-Read Sequencing Data From Ultra-Low Input Patient Samples, Katherine Wang, Cera J Aex, Hayan Lee, Lucas Finot, Kevin Zhu, Julianna R Chang, Aaron M Horning, William J Rowell, Philip Li, Sarah B Kingan, Michael P Snyder, Graham Scott Erwin

Faculty, Staff and Students Publications

Long-read sequencing provides a more complete view of the genome than short-read sequencing, with improved detection of structural variants, tandem repeats, and small variants (single nucleotide variants and insertions and deletions) in difficult-to-map regions. One limitation of long-read sequencing has been high input DNA requirements, with several micrograms required per sample. Here, we evaluate two methods of amplification-based long-read, whole-genome sequencing: ultra-low input HiFi (ULI-HiFi) sequencing and droplet multiple displacement amplification (dMDA) sequencing. When benchmarked against the Genome in a Bottle reference set (NA24385), we observe high precision and recall of single nucleotide variants (SNVs) with ULI-HiFi compared to the …

Prevalence Of Hyperprolactinemia And Its Association With Menstrual Abnormalities And Hypothyroidism Among Infertile Women: A Cross-Sectional Study From Saudi Arabia, Aseel Y. Alwahhabi, Rahaf H. Labban, Maryam Y. Alshaikh, Amal M. Alanazi, Samaher S. Alfaraj, Fahad M. Alsalman, Hayat A. Alrabiea

Saudi Medical Journal

Objectives: To determine the prevalence of hyperprolactinemia among infertile women and assess its association with menstrual irregularities and hypothyroidism in a tertiary-care setting in Riyadh, Saudi Arabia.

Methods: A cross-sectional study was conducted between September 2022 and August 2023 at the Reproductive Endocrinology and IVF Unit, King Abdulaziz Medical City, Riyadh. Electronic medical records of 480 infertile women who met the inclusion criteria were reviewed. Data on demographic characteristics, infertility type, thyroid status, and serum prolactin levels were collected and analyzed using SAS version 9.4. Statistical significance was set at p < 0.05.

Results: Hyperprolactinemia was identified in 27.7% of infertile women, …

Polysomnographic And Clinical Characteristics Of Narcolepsy In Saudi Arabia: A 12-Year Retrospective Study, Banan Almalki, Omar Kanbr, Ghufran Bin Afeef, Shaimaa Hawsawi, Ranya Alshumrani, Faris Alhejaili, Siraj Wali

Saudi Medical Journal

Objective: To evaluate the clinical features, polysomnographic findings, and therapeutic outcomes of narcolepsy type 1 and type 2 patients in Kingdom of Saudi Arabia (KSA). Narcolepsy is a neurological condition marked by excessive daytime sleepiness (EDS) and associated symptoms, including cataplexy and disrupted nighttime sleep. Data on narcolepsy in KSA are still limited.

Methods: Forty-three patients diagnosed with narcolepsy from 2012 to 2024 were included in this retrospective study. Diagnosis followed the International Classification of Sleep Disorders criteria and incorporated clinical features, the epworth sleepiness scale (ESS), overnight polysomnography (PSG), and multiple sleep latency testing (MSLT). Data on demographics, clinical …

Lived Experiences And Perceptions Of People With Knee Osteoarthritis In Saudi Arabia: A Qualitative Study, Sultan A. Alanazi, Amjad S. Alhabishi, Rana O. Alawafi, Samia A. Alamrani

Saudi Medical Journal

Objectives: To explore how people with knee osteoarthritis (OA) in Kingdom of Saudi Arabia (KSA) perceive and live with their condition, how they self-manage symptoms, and how they experience physiotherapy and rehabilitation services.

Methods: A descriptive qualitative study was conducted using semi-structured interviews. Interviews were undertaken with individuals with knee OA who are aged ≥ 45 years. Interviews were audio-recorded, transcribed verbatim, de-identified and analyzed using reflexive thematic analysis with investigator triangulation.

Results: Twenty-seven (19 females) participants aged 45–74 years (mean = 61) from different regions of KSA shared lived experiences of knee OA. Four themes describing participants' experiences …