Medicine and Health Sciences Commons^™

Forensic Identification Using Airdna: A Preliminary Study On The Collection, Isolation, Amplification And Sequencing Of Human Dna From Air Samples, Sitki Tiplamaz, Zehra Ömeroğlu Ulu, Bestami̇ Çolak, Hizir Asliyüksek, Fi̇kretti̇n Şahi̇n

Turkish Journal of Medical Sciences

Background/aim: Humans continually release skin cells and DNA fragments into the air. This DNA can either remain airborne or drop onto surfaces as indoor dust. This study investigates the collection, isolation, amplification, and sequencing of human DNA from air samples, focusing on both nuclear DNA and mitochondrial DNA.

Materials and methods: This study was conducted in a 15 m3 room and a meeting room, where air samples were systematically collected and filtered using a vacuum device equipped with various sterile filters. The rigorous protocols were implemented to prevent contamination throughout the process. Thirteen air samples were processed in this research, …

Cardiometabolic Risk Factors And Their Association With Carotid Intima Media Thickness Among Patients With Type 2 Diabetes Mellitus, Christian Saleh

Turkish Journal of Medical Sciences

No abstract provided.

Clinical Practice Guideline: Appropriate Selection Of Mental Health Conditions For Telepsychiatry Visits, Oluwatoyin Sowunmi

Walden Dissertations and Doctoral Studies

This doctoral project was a clinical practice guideline (CPG) aimed at addressing the practice problem of inappropriate selection of patients for telepsychiatry visits. The issue is significant in nursing practice, as the misalignment between patient needs and telehealth capabilities often results in appointment cancellations. The practice focus question guiding this project was “Does the evidence support development and expert panel validation via the Appraisal of Guideline for Research and Evaluation II (AGREE II) of a CPG for appropriate selection of mental health conditions for telepsychiatry visits that is also approved for use in practice by end users?” The project successfully …

Profile Of Perinatal Infections Among Abandoned Neonates Admitted In A Tertiary Hospital In Oman, Mahmood Dhahir Al-Mendalawi

Sultan Qaboos University Medical Journal

No abstract provided.

Effect Of Ear Health, Care Practices, And Hearing Loss On Academic Performance Among Male Adolescents In Residential Schools: A Cross-Sectional Study In Eastern India, Sumeet Angral, Bijit Biswas, Ksbs Krishna Sasanka, Gulistan Bano

Sultan Qaboos University Medical Journal

Objectives: This study aimed to investigate the association between ear health, ear care practices, and academic performance among male adolescents in residential schools.Methods: A cross-sectional study was conducted among 684 male adolescents residing in residential schools in Deoghar, Jharkhand, India, during World Hearing Day 2023. Data were collected on socio-demographic characteristics, ear care practices, and academic performance. Comprehensive ear examinations and pure tone audiometry were performed to assess ear morbidity and hearing thresholds.Results: Ear morbidity was identified in 43% of participants, with bilateral involvement in 85% of these cases. Ear-related symptoms were reported by 26.3% of participants, including …

Topical Lifitegrast Therapy For Dry Eye Disease, Lama Assi, Salim C. Lutfallah, Tsz Wing Yim, Su Hsun Liu, Sharon J. Duffy, Jayne Weiss

School of Medicine Faculty Publications

Objectives: This is a protocol for a Cochrane Review (intervention). The objectives are as follows:. To assess the effectiveness and safety of topical lifitegrast therapy alone or in combination with artificial tears, compared with a placebo, artificial tears alone, or no treatment for dry eye disease.

Evidence And Consensus-Based Imaging Guidelines In Birdshot Chorioretinopathy: Multimodal Imaging In Uveitis (Muv) Taskforce Report 8, Jose S. Pulido

Wills Eye Hospital Papers

PURPOSE: To develop consensus-based imaging guidelines for diagnosing and monitoring birdshot chorioretinopathy (BSCR).

DESIGN: Consensus-based approach guided by literature and an expert committee using a nominal group technique (NGT).

METHODS: An expert committee of 5 international uveitis specialists reviewed 15 well-documented representative BSCR cases with comprehensive imaging data. Cases with active and inactive disease were included. Imaging, including color fundus photography (CFP), fundus fluorescein angiography (FFA), indocyanine green angiography (ICGA), optical coherence tomography (OCT), fundus autofluorescence (FAF), and OCT angiography (OCTA) were reviewed. Using a structured NGT approach, consensus-based recommendations were developed for specific disease characteristics, biomarkers of activity, and …

Primary Mouse Choroidal Endothelial Cell Culture, Qiuhua Yang, Yongfeng Cai, Qian Ma, Yuqing Huo

Faculty, Staff and Students Publications

The study of choroidal endothelial cells is essential for understanding the pathological mechanisms underlying choroidal neovascularization and other vision-threatening disorders. Traditional methods for isolating and culturing primary endothelial cells often yield mixed populations or require specialized equipment, limiting their widespread use. Here, we present a straightforward protocol for isolating and culturing primary mouse choroidal endothelial cells. This protocol involves enzymatic digestion of choroidal tissue, magnetic-activated cell sorting (MACS) to enrich CD31+ endothelial cells, and optimized culture conditions to promote cell proliferation and maintain endothelial phenotype. The protocol is strategic, reproducible, and requires minimal specialized equipment, making it accessible for researchers …

Bibliometric Analysis Of Colchicine In Cardiovascular Health: Trends, Key Contributors, And Global Collaborations, Meltem Sertbaş, Özlem Özaydin, Habi̇p Yilmaz, Abdullah Emre Güner, Özden Güdük, Nalan Okuroğlu, Ali̇ Özdemir, Yaşar Sertbaş

Turkish Journal of Medical Sciences

Background/aim: The study aims to systematically analyze the body of literature concerning the effects of colchicine on the cardiovascular system, providing a comprehensive evaluation of the current knowledge and highlighting the clinical and scientific relevance of colchicine in this field.

Materials and methods: Data were obtained from the Web of Science Core Collection database on November 17, 2024. The search terms included “Colchicine” AND "Cardiovascular effects" OR "Cardiovascular diseases" OR "Heart diseases" OR "Coronary artery disease" OR "Myocarditis" OR "Pericarditis" OR "Atherosclerosis" OR "Heart failure" OR "Myocardial infarction." No restrictions were applied regarding publication date or language, ensuring the comprehensive …

Expert Opinion On Clinical Presentation, Diagnosis And Treatment Of Infantile Onset Pompe Disease: A Delphi Study In Türkiye, Eki̇n Özsaydi Aktaşoğlu, Asli İnci̇, Ridvan Murat Öktem, Gürsel Bi̇beroğlu, İlyas Okur, Fati̇h Süheyl Ezgü, Fi̇li̇z Başak Cengi̇z Ergi̇n, Abdurrahman Akgün, Nur Arslan, Hali̇l İbrahi̇m Aydin, Ayşe Ergül Bozaci, Mahmut Çoker, Fatma Tuba Emi̇noğlu, Meli̇ke Ersoy, Emi̇ne Göksoy, Banu Kadioğlu Yilmaz, Mehtap Kağnici, Mustafa Kiliç, Nesli̇han Önenli̇ Mungan, Burcu Öztürk Hişmi̇, Pembe Soylu Üstkoyuncu, Ayşegül Tokatli, Ayşe Çi̇ğdem Aktuğlu Zeybek, Berrak Bi̇lgi̇ner Gürbüz, Sevi̇l Dorum, Di̇lek Güneş, Çi̇ğdem Seher Kasapkara, Sebi̇le Kilavuz, Erdoğan Soyuçen, Peli̇n Teke Kisa, Özlem Ünal Uzun, Fatma Derya Bulut, Songül Gökay, Selen Has Özhan, Deni̇z Kor, Aynur Küçükcongar Yavaş, Fi̇gen Özçay, Yilmaz Yildiz, Harun Yildiz, Leyla Tümer

Turkish Journal of Medical Sciences

Background/aim: Pompe disease (acid maltase deficiency, glycogen storage disease type II, OMIM #606800) is an autosomal recessive disorder characterized by lysosomal acid-α-glucosidase deficiency. The infantile-onset type of the disease is mainly characterized by cardiomegaly, hypotonia, and a high mortality rate. This study aimed to create a national consensus about infantile-onset Pompe disease (IOPD) to raise awareness among clinicians and standardize diagnosis and treatment approaches in Türkiye.

Materials and methods: The Gazi University Division of Metabolic Diseases and Nutrition developed this expert opinion consensus and expanded it to include metabolism specialists across Türkiye. A systematic literature review was performed, and the …

Prognostic Factors For Long-Term Outcomes Of Unilateral Atrophic Kidneys In Adult Patients: A Single-Center Retrospective Cohort Study, Zülal İstemi̇han, Ahmet Burak Di̇ri̇m, Ali̇ Riza Uçar, Ceren Bağriaçik, Gamze Kemeç, Şafak Mi̇ri̇oğlu, Seda Şafak, Vafa Suleymanova, Özgür Akin Oto, Ayşe Serra Artan, Alaatti̇n Yildiz, Aydin Türkmen, Hali̇l Yazici

Turkish Journal of Medical Sciences

Background/aim: Unilateral atrophic kidney (UAK) could be related to many etiologies that can cause chronic kidney disease in adults. There is limited data on the long-term outcome of adults with UAK in the literature.

Materials and methods: This study included 199 adult patients with UAK. The etiology, baseline clinical/laboratory, and radiological findings were evaluated. Composite primary outcomes (CPO) (chronic kidney disease stage 5 or doubling of serum creatinine) and secondary outcomes (new-onset proteinuria (>0.5 g/day or g/g) or >50% increase in proteinuria level according to baseline, mortality, and nephrectomy requirement during follow-up) were evaluated in 166 patients with at …

Investigation Of The Relationship Between Triglyceride Glucose Index And Metabolic And Hematological Parameters In Obese Individuals, Özge Baş Aksu, Feri̇de Özkara, Rifat Emral, Volkan Genç, Demet Çorapçioğlu, Mustafa Şahi̇n

Turkish Journal of Medical Sciences

Background/aim: This research examined the association between the triglyceride-glucose (TyG) index and metabolic, hepatic, and hematologic variables in a population of severely obese subjects, with a focus on the assessment of glycemic control.

Materials and methods: This retrospective study included 315 adult patients with a body mass index (BMI) ≥ 35 kg/m² who were evaluated for bariatric surgery. Participants were grouped according to HbA1c levels: those with HbA1c ≥ 6.5% and those with HbA1c < 6.5%. TyG, atherogenic index of plasma (AIP), fibrosis-4 (FIB-4), aspartate aminotransferase-to-platelet ratio index (APRI), and hematological inflammation markers were assessed and compared between groups. To investigate associations, correlation and regression analyses were conducted.

Results: Individuals with HbA1c ≥ 6.5% had significantly higher TyG, AIP, APRI, and FIB-4 values than those with lower HbA1c. The TyG index showed a strong …

The Role Of The Hemoglobin-Albumin-Lymphocyte-Platelet (Halp) Score In Deep Neck Infections And Its Relationship With Clinical Parameters, Ayşe Seçi̇l Kayali Di̇nç, Nagi̇han Gülhan Yaşar, Agah Yeni̇çeri̇, Çeti̇n Şahutoğlu, İbrahi̇m Sevi̇m, Meli̇h Çayönü

Turkish Journal of Medical Sciences

Background/aim: Deep neck infections (DNI) are suppurative infections of the cervical spaces, which may lead to life-threatening complications. The HALP score is a laboratory parameter reflecting a patient’s nutritional and inflammatory status. The aim of this study was to compare the HALP scores of patients with DNI with those of a control group. A secondary objective was to investigate the potential relationship between the HALP score and clinical parameters, and to assess its role in determining disease severity.

Materials and methods: The study retrospectively included patients who were hospitalized and treated for DNI. Data were extracted from the hospital’s electronic …

Health Impacts And Medical Assistance After Libyan Flood Disaster: Emergency Medical Teams’ Responses, Hakan Güner, Okan Maden, Muhammed Saltuk Deni̇z, Kerem Dost Bi̇lmez, Şükrü Yorulmaz, Mehmet Enes Gökler

Turkish Journal of Medical Sciences

Background/aim: Floods are the most frequent natural disasters and pose direct and indirect health risks, some well-documented and others poorly understood. Epidemiological studies help bridge these gaps and guide effective public health responses.In September 2023, Storm Daniel caused severe flooding in Libya, damaging infrastructure, including healthcare facilities. The disaster affected 250,000 people, displaced 48,000, and claimed 15,000 lives, making it the second deadliest natural disaster of the year. This study aims to assess the characteristics of flood-affected patients to improve disaster preparedness.

Materials and methods: This descriptive study examined disaster victims who visited three clinics established as part of an …

Erratum To " Evaluation Of Clinical Features And Treatment Modality Of Pediatric Patients With Steven Johnson Syndrome/Toxic Epidermal Necrolysis: A Single-Center Experience " [ Turkish Journal Of Medical Sciences 55 2 461 469], Funda Ayteki̇n Güveni̇r

Turkish Journal of Medical Sciences

In the original article, the ORCID of one of the co-authors, Hatice Irmak ÇELİK, was incorrectly reported by the corresponding author. At the request of the authors, the ORCID has been corrected to reflect the accurate information. This correction does not affect the content or conclusions of the article. The authors apologize for this oversight.

Link to the original article: https://doi.org/10.55730/1300-0144.5990

Correction: Rationale For A 4-Month, Parallel-Group, Randomized Controlled Trial To Assess The Feasibility And Efficacy Of A Remotely Delivered Exercise Training Intervention For Hispanics/Latinos With Multiple Sclerosis (Ferla Ms), Victoria A Flores, Stephanie L Silveira, David X Marquez, Dominique Kinnett-Hopkins, Augusto Miravalle, Fabian Sierra-Morales, Zulma Hernández-Peraza, Robert W Motl

Faculty, Staff and Student Publications

No abstract provided.

Multi-Ancestry Genome-Wide Association Analyses Incorporating Snp-By-Psychosocial Interactions Identify Novel Loci For Serum Lipids, Amy R Bentley, Michael R Brown, Solomon K Musani, Karen L Schwander, Thomas W Winkler, Mario Sims, Tuomas O Kilpeläinen, Hugues Aschard, Traci M Bartz, Lawrence F Bielak, Jin-Fang Chai, Kumaraswamy Naidu Chitrala, Nora Franceschini, Mariaelisa Graff, Xiuqing Guo, Fernando P Hartwig, Andrea R V R Horimoto, Elise Lim, Yongmei Liu, Alisa K Manning, Ilja M Nolte, Raymond Noordam, Melissa A Richard, Albert V Smith, Yun Ju Sung, Dina Vojinovic, Rujia Wang, Yujie Wang, Mary F Feitosa, Sarah E Harris, Leo-Pekka Lyytikäinen, Giorgio Pistis, Rainer Rauramaa, Peter J Van Der Most, Erin Ware, Stefan Weiss, Wanqing Wen, Lisa R Yanek, Dan E Arking, Donna K Arnett, Christie Ballantyne, Eric Boerwinkle, Yii-Der Ida Chen, Martha L Daviglus, Lisa De Las Fuentes, Paul S De Vries, Joseph A C Delaney, Amanda M Fretts, Lynette Ekunwe, Jessica D Faul, Linda C Gallo, Sami Heikkinen, Georg Homuth, M Arfan Ikram, Carmen R Isasi, Jost Bruno Jonas, Liisa Keltikangas-Järvinen, Pirjo Komulainen, Aldi T Kraja, Jose E Krieger, Lenore Launer, Lifelines Cohort Study, Jianjun Liu, Kurt Lohman, Annemarie I Luik, Ani W Manichaikul, Pedro Marques-Vidal, Yuri Milaneschi, Stanford E Mwasongwe, Jeffrey R O'Connell, Kenneth Rice, Stephen S Rich, Pamela J Schreiner, Lars Schwettmann, James M Shikany, Xiao-Ou Shu, Jennifer A Smith, Harold Snieder, Nona Sotoodehnia, E Shyong Tai, Kent D Taylor, Lesley Tinker, Michael Y Tsai, André G Uitterlinden, Cornelia M Van Duijn, Diana Van Heemst, Melanie Waldenberger, Robert B Wallace, Hwee-Lin Wee, David R Weir, Wen-Bin Wei, Ko Willems Van Dijk, Gregory Wilson, Jie Yao, Kristin L Young, Xiaoyu Zhang, Wei Zhao, Xiaofeng Zhu, Alan B Zonderman, Ian J Deary, Christian Gieger, Hans Jörgen Grabe, Timo A Lakka, Terho Lehtimäki, Albertine J Oldehinkel, Martin Preisig, Ya-Xing Wang, Wei Zheng, Michele K Evans, Michael Province, James Gauderman, Vilmundur Gudnason, Catharina A Hartman, Bernardo L Horta, Sharon L R Kardia, Charles Kooperberg, Ching-Ti Liu, Dennis O Mook-Kanamori, Brenda Wjh Penninx, Alexandre C Pereira, Patricia A Peyser, Bruce M Psaty, Jerome I Rotter, Xueling Sim, Kari E North, Dabeeru C Rao, Laura Bierut, Clint L Miller, Alanna C Morrison, Charles N Rotimi, Myriam Fornage, Ervin R Fox

Faculty, Staff and Student Publications

Serum lipid levels, which are influenced by both genetic and environmental factors, are key determinants of cardiometabolic health and are influenced by both genetic and environmental factors. Improving our understanding of their underlying biological mechanisms can have important public health and therapeutic implications. Although psychosocial factors, including depression, anxiety, and perceived social support, are associated with serum lipid levels, it is unknown if they modify the effect of genetic loci that influence lipids. We conducted a genome-wide gene-by-psychosocial factor interaction (G×Psy) study in up to 133,157 individuals to evaluate if G×Psy influences serum lipid levels. We conducted a two-stage meta-analysis …

Protocol For Assessing Mobilization Of Peritoneal B Cells To The Pre-Metastatic Omentum In An Orthotopic Mouse Model Of Ovarian Cancer, Wonjae Lee, Hironari Akasaka, Honami Naora

Faculty, Staff and Student Publications

The omentum is a visceral adipose tissue that undergoes dynamic immunological changes prior to and following metastasis. Here, we present a protocol for assessing the mobilization of peritoneal B cells to the pre-metastatic omentum in a mouse ovarian cancer model. We describe steps for isolation and adoptive transfer of peritoneal donor B cells and their detection in the omentum of recipient mice. This protocol could be utilized to study the mobilization of peritoneal B cells to the omentum in other pathological contexts. For complete details on the use and execution of this protocol, please refer to Lee et al.

Protocol For Establishing Genetically Engineered Murine Lung Organoids Mimicking Cell Plasticity And Regeneration, Bongjun Kim, Jae-Il Park

Faculty, Staff and Student Publications

Lung endothelial cells (LuECs) play crucial roles in lung regeneration and support lung organoids (LOs). However, detailed guidelines for LO culture using LuECs have not been reported yet. Here, we present an efficient protocol for generating and culturing murine LOs that mimic regeneration. We describe steps for the isolation of LuECs and lung epithelial cells, followed by LO culture. We also describe how to establish genetically engineered LOs using viral transduction. For complete details on the use and execution of this protocol, please refer to Kim et al.

Characterization And Clinical Implications Of P53 Dysfunction In Patients With Myelodysplastic Syndromes, Matteo Zampini, Elena Riva, Luca Lanino, Elisabetta Sauta, Rita Antunes Dos Reis, Rosa Maria Andres Ejarque, Giulia Maggioni, Alberto Termanini, Alessandra Merlotti, Alessia Campagna, Lorenzo Dall'olio, Austin Kulasekararaj, Michela Calvi, Clara Di Vito, Arturo Bonometti, Daoud Rahal, Giorgio Croci, Emanuela Boveri, Umberto Gianelli, Maurilio Ponzoni, Rossella Caselli, Serena Albertazzi, Gabriele Todisco, Marta Ubezio, Laura Crisafulli, Alessandro Frigo, Enrico Lugli, Ettore Mosca, Pamela Acha, Serena Ghisletti, Francesco Nicassio, Armando Santoro, Maria Diez-Campelo, Francesc Solé, Lionel Ades, Uwe Platzbecker, Valeria Santini, Pierre Fenaux, Torsten Haferlach, David Sallman, Guillermo Garcia-Manero, Domenico Mavilio, Daniel Remondini, Gastone Castellani, Saverio D'Amico, Amer M Zeidan, Rami Komrokji, Shahram Kordasti, Francesca Ficara, Matteo Giovanni Della Porta, Calr Consortium

Faculty, Staff and Student Publications

Purpose: Tumor Protein 53 (p53) expressed from gene TP53 is a seminal tumor suppressor. We aimed to characterize mutational and nonmutational mechanisms of p53 dysfunction in myelodysplastic syndromes (MDS) and to investigate their clinical effect.

Patients and methods: We analyzed a cohort of 6,204 patients with MDS and subsets of patients with available information on RNA sequencing of tumor cells (n = 109), high-dimensional phenotype of immune cells (n = 77), and multiomics analysis (RNA sequencing and proteomics) on single cells (n = 15). An independent validation was performed on 914 patients.

Results: Biallelic TP53 inactivation was a powerful driver …

Usp37 Counteracts Hltf To Protect Damaged Replication Forks And Promote Survival Of Brca1-Deficient Cells And Parp Inhibitor Resistance, Mengfan Tang, Siting Li, Ziqiang Zhu, Chao Wang, Shuai Ding, Huimin Zhang, Min Huang, Sarah Keast, Zhen Chen, Ling Yin, Litong Nie, Dan Su, Xu Feng, Junjie Chen

Faculty, Staff and Student Publications

Poly(ADP-ribose) polymerase inhibitors (PARPi) have greatly improved survival of cancer patients harboring BRCA1 mutations. However, therapy resistance develops via either restoration of homologous recombination or replication fork stabilization. Therapeutic targets to overcome PARPi resistance are critically needed. We identified the deubiquitinase USP37 as a key determinant of PARPi toxicity in BRCA1-deficient cells via whole-genome CRISPR screens. USP37 ablation enhanced PARPi sensitivity in BRCA1-deficient cells and also overcame PARPi resistance due to 53BP1 loss. USP37 interacts with and deubiquitinates replication protein A (RPA) at stalled replication forks to limit excessive RPA accumulation, progressive RPA exhaustion, and the conversion of RPA-coated single-stranded …

Protocol To Analyze Trna And Rrna Processing Using Biotin-Labeled Probes, Sseu-Pei Hwang, Katherine Barondeau, Catherine Denicourt

Faculty, Staff and Student Publications

Mature tRNAs and rRNAs are derived from larger precursor transcripts through intricate endo- and exonuclease processing steps. Here, we present a protocol to analyze rRNA and tRNA processing using total RNA extracted from human cells. We describe steps for separating RNA by denaturing electrophoresis, followed by northern blotting. We detail procedures for detecting pre-rRNA intermediates or specific tRNA species using biotin-labeled probes imaged via fluorescence or chemiluminescence. This non-radioactive, high-sensitivity assay enables the investigation of rRNA and tRNA expression dynamics. For complete details on the use and execution of this protocol, please refer to Hwang et al.

Elucidating Brain Transport Pathways And Cell Type-Dependent Gene Silencing Of A Durable Lipid-Sirna Conjugate Administered Into Cerebrospinal Fluid, Alexander G Sorets, Kathleen M Schoch, Timothy M Miller, Et Al.

2020-Current year OA Pubs

The clinical neurosciences are in the midst of a renaissance spurred by the development of new therapeutic modalities. Short interfering RNAs (siRNAs), in particular, are gaining interest for treating neurological diseases owing to their capacity to sustain inhibition of nearly any gene target. However, to be effective, siRNA therapies must achieve delivery and on-target gene silencing activity in specific sites and cells in the brain. To this end, we developed a lipid-siRNA conjugate (L2-siRNA) that transports effectively throughout the brain when injected into cerebrospinal fluid (CSF). We provide a detailed examination of regional bulk tissue gene silencing in mice, highlighting …

Monoclonal Antibodies Targeting The Fimh Adhesin Protect Against Uropathogenic E. Coli Uti, Edward D B Lopatto, Jesús M Santiago-Borges, Denise A Sanick, Sameer Kumar Malladi, Philippe N Azimzadeh, Morgan W Timm, Isabella F Fox, Aaron J Schmitz, Jackson S Turner, Shaza M Sayed Ahmed, Lillian Ortinau, Nathaniel C Gualberto, Jerome S Pinkner, Karen W Dodson, Ali H Ellebedy, Andrew L Kau, Scott J Hultgren

2020-Current year OA Pubs

As antimicrobial resistance increases, urinary tract infections (UTIs) are expected to pose an increased burden in morbidity and expense on the health care system, increasing the need for alternative antibiotic-sparing treatments. Most UTIs are caused by uropathogenic

Demographics, Clinical Features And Genetics Of Common Inherited Arrhythmias In Oman, Kadhiya Al Azri, Ismail Al Abri, Maryam Al Shehhi, Maria Al Hinai, Tahlil Al Amri, Narjis Al Sheala, Ammar Al Shabibi

Journal of the Saudi Heart Association

Objectives:

Inherited arrhythmia syndromes (IAS) are a group of rare disorders that result from genetic mutations in several genes including congenital long QT syndrome, Brugada syndrome (BrS), short QT syndrome, and Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT). Affected individuals may have various symptoms including sudden cardiac death (SCD). Few reports have highlighted long QT syndrome from the Arbian Gulf region. The current study aims to describe demographics of children and adults with inherited arrhythmia syndromes; report the presenting clinical features, genetic mutations and management strategies.

Material and Method:

This is a descriptive retrospective study that included Omani children and adults with …

Efficacy And Safety Of Olezarsen In Dyslipidemia: A Systematic Review And Dose-Response Meta-Analysis Of Randomized Controlled Trials, Christopher D. Tristan, Risalina Myrtha, Matthew A. Wijayanto, Erlangga M. Kynaya, Muhammad F. Hamka, Nathania E. Sudiono, Muhammad A. Rusyidi, Muhana F. Ilyas

Journal of the Saudi Heart Association

Olezarsen emerged as a novel promising Apo-C3 inhibitor for dyslipidemia. However, its dose-response relationship remains uncertain. This review aims to evaluate the lipid-lowering effect of olezarsen, safety measures, and dose-response effects to determine the optimal dose. A systematic search was conducted across Scopus, PubMed, ScienceDirect, and CENTRAL on January 2, 2025. Randomized controlled trial (RCT) comparing olezarsen with placebo in dyslipidemia was included. The Rob 2.0 tool was implemented to assess quality. R-studio and STATA were used to conduct statistical analysis. From a total of 194 documents at initial search, four RCTs involving 361 patients were included in the present …

Nosocomial Sepsis Triggered By Pluralibacter Gergoviae In A Pediatric Intensive Care Unit: A Case Report And Literature Review, Abdulrahman Özel, Nurettin Onur Kutlu, Servet Yüce, Cenk Özdalgiçoğlu, Meltem Erol

Journal of Pediatric Infectious Diseases

Pluralibacter gergoviae is a rare opportunistic gram-negative bacillus in humans and exhibits resistance to preservatives in cosmetic products. In this case report, we present nosocomial P. gergoviae sepsis that developed through contamination from a cleaning product in a previously healthy child without known chronic diseases, pediatric intensive care unit care. Contamination with the same microorganism was detected even in unused samples of the cleaning product, leading to a recall of these items. This report highlights the case of hospital-acquired P. gergoviae sepsis to emphasize the importance of adherence to antiseptic protocols by health care work as well as the necessity …

New Insights On The Clinical Significance Of Mycoplasma Pneumoniae-Dna Load In Mycoplasma Pneumoniae Pneumonia, Chen Yu, Lin Chenxi, Huang Rui, Chen Qi, Zhang Min, Chen Ling, Lai Xingqian

Journal of Pediatric Infectious Diseases

Objective: This study aimed to assess the consistency of MP-DNA load in the respiratory tracts, its correlation with Mycoplasma pneumoniae pneumonia (MPP) manifestations, and its predictive value for refractory M. pneumoniae pneumonia (RMPP).

Methods: A retrospective study was performed on a cohort of MPP cases, including 215 patients with positive nasopharyngeal aspirate (NPA) MP-DNA and 59 with positive bronchoalveolar lavage fluid (BALF) MP-DNA. Patients were categorized into two groups based on MP-DNA load: low-load (≤106/mL) and high-load (>106/mL). The consistency of MP-DNA load in NPA and BALF was determined by Spearman’s correlation coefficient. Clinical, laboratory, and radiological data were …

Comparison Of Delta Neutrophil Index And Inflammatory Markers In The Diagnosis Of Late-Onset Neonatal Sepsis In Preterm Infants, Aybuke Yazici, Hayriye Gozde Kanmaz Kutman, Gulsum Kadioglu Simsek, Betul Siyah Bilgin, Fuat Emre Canpolat, Bedia Dinc, Serife Suna Oguz

Journal of Pediatric Infectious Diseases

Objective: To assess the performance of the relatively new hematological marker delta neutrophil index (DNI) and other inflammatory markers in proven sepsis of the very preterm infant.

Methods: Infants with a gestational age of <32 weeks and examined for suspected late-onset sepsis (LOS) were evaluated retrospectively. Demographic characteristics, laboratory findings, and neonatal morbidity and mortality were compared between infants with blood culture-confirmed sepsis and clinical sepsis.

Results: The study included 358 infants, 90 with proven sepsis and 268 with clinical sepsis. The mean gestational ages in these groups were 28.2±2 and 28.2±2.1 weeks, and the mean birth weight was 1139±372 and 1148±370 g, respectively (p>0.05). The proven sepsis group had higher DNI (median 7.1% [range, 0.1-74] vs. 0.6% [range, 0.1-24.7%], p<0.01], CRP (median 5 [range, 1-38] mg/L vs. 1 [range, 1-15] mg/L, p<0.001), interleukin 6 (median 620 [range, 6.9-5500] pg/mL vs. 42.2 [range, 2.2-5500] pg/mL, p<0.01), and procalcitonin (median 6.2 [range, 0.26-86] μg/L vs. 0.6 [range, 0.06-25.7] μg/L, p=0.002). According to ROC analysis, interleukin 6 had the highest area under the curve (AUC) at 0.74 (95% CI 0.60-0.88, p<0.01). The AUC values were 0.73 (95% CI 0.59-0.88, p=0.01) for procalcitonin, 0.62 (95% CI 0.44-0.80, p=0.18) for DNI, and 0.66 (95% CI 0.50-0.82, p=0.05) for CRP.

Conclusion: The delta neutrophil index showed a statistically significant elevation …

Diagnostic Value Of Lncrna Fgd5-As1 Sponge Mir-223-3p In Infantile Pneumonia And Its Prognostic Effect On Rehabilitation, Hong-Ping Ren, Hong-Lin Wen, Ya-Nan Liu, Lin Cai

Journal of Pediatric Infectious Diseases

Objective: This study aimed to uncover the value of long non-coding RNA FGD5-AS1 (lncRNA FGD5-AS1) in the diagnosis of infantile pneumonia and explore its pathological mechanism in lung fibroblasts. This research may provide a potential biomarker for diagnosing patients and predicting their rehabilitation outcomes.

Methods: This study included 92 children with infantile pneumonia as the research object, and an equal number of healthy children were introduced as controls. The FGD5-AS1 content was detected using real-time quantitative polymerase chain reaction (RT-qPCR) assay. The diagnostic value of FGD5-AS1 was evaluated by receiver operating characteristic (ROC) and logistic analysis. The molecular mechanism of …