Diagnostics

14 pages, 693 KiB

Open AccessArticle

Prevalence of Functional Gastrointestinal Disorders and Associated Risk Factors Among Preschool Children in the City of Jeddah and Surrounding Areas: A Cross-Sectional Study

by Mai A. Khatib, Elham A. Aljaaly, Eram Albajri, Nahlaa A. Khalifa, Saleh Khateeb, Sarah M. Ajabnoor, Daniah Radhwan, Khawlah Aljohani and Aisha Y. Hussein

Diagnostics 2025, 15(3), 242; https://doi.org/10.3390/diagnostics15030242 (registering DOI) - 21 Jan 2025

Abstract

Background/Objectives: Functional gastrointestinal disorders (FGIDs) affect children’s daily activities and overall performance due to gastrointestinal symptoms. This study assesses the prevalence and types of FGIDs in children living in Jeddah City and its countryside. It also examines factors that contribute to the incidence [...] Read more.

Background/Objectives: Functional gastrointestinal disorders (FGIDs) affect children’s daily activities and overall performance due to gastrointestinal symptoms. This study assesses the prevalence and types of FGIDs in children living in Jeddah City and its countryside. It also examines factors that contribute to the incidence of these disorders and their impact on children’s lifestyles. Methods: This cross-sectional study was conducted among 285 mothers of preschool children enrolled in kindergartens during the academic year 2020–2021. The Rome IV Diagnostic Questionnaire was sent out online through kindergartens to be filled out by the children’s mothers. The questionnaire assessed the prevalence of FGIDs subjectively through symptoms and their frequency. Results: Among the 285 participants, 9% (n = 27) fit the diagnostic criteria for FGIDs. Common FGIDs included functional constipation, 3.5% (n = 10); postprandial distress syndrome, 2.4% (n = 7); functional abdominal pain—not otherwise specified, 1% (n = 3); and functional epigastric pain, 0.7% (n = 2). Significant risk factors for developing FGIDs among the children in the sample included being a preterm baby (p < 0.01), being previously diagnosed with a gastrointestinal condition (p < 0.010), having a family history of diarrhea or nausea and vomiting (p < 0.001 and p < 0.01, respectively), skipping lunch at kindergarten (p < 0.01), and having pre-existing food allergies (p < 0.01). Conclusions: FGIDs were prevalent among 9% of children in Jeddah City and its countryside. Functional constipation was the most common disorder. Factors associated with FGIDs in children included preterm birth, being previously diagnosed with a GI condition, a family history of gastrointestinal conditions, irregular eating habits, and food allergies. Full article

(This article belongs to the Special Issue Advances in the Diagnosis and Management of Digestive System Diseases)

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20 pages, 1503 KiB

Open AccessReview

The Dynamic Evolution of Eosinophilic Esophagitis

by Amir Farah, Tarek Assaf, Jawad Hindy, Wisam Abboud, Mostafa Mahamid, Edoardo Vincenzo Savarino and Amir Mari

Diagnostics 2025, 15(3), 240; https://doi.org/10.3390/diagnostics15030240 (registering DOI) - 21 Jan 2025

Abstract

Eosinophilic esophagitis (EoE) is a chronic, immune-mediated inflammatory condition of the esophagus characterized by eosinophilic infiltration, and hallmark symptoms of esophageal dysfunction such as dysphagia and food impaction. Over the past three decades, EoE has been recognized as a distinct clinical entity, distinguished [...] Read more.

Eosinophilic esophagitis (EoE) is a chronic, immune-mediated inflammatory condition of the esophagus characterized by eosinophilic infiltration, and hallmark symptoms of esophageal dysfunction such as dysphagia and food impaction. Over the past three decades, EoE has been recognized as a distinct clinical entity, distinguished from gastroesophageal reflux disease (GERD) through advancements in diagnostic techniques, particularly endoscopy with biopsy. The rising global prevalence of EoE reflects enhanced diagnostic awareness, evolving criteria, and environmental along with lifestyle changes. The etiology of EoE is multifactorial, involving genetic predispositions, immune dysregulation, the gut microbiome, and environmental triggers, including dietary allergens and aeroallergens. Key mechanisms include a type 2 helper T-cell (Th2)-driven immune response, epithelial barrier dysfunction, and genetic variants such as CAPN14 and TSLP. Chronic inflammation leads to tissue remodeling, fibrosis, and esophageal narrowing, contributing to disease progression and complications. Management strategies have evolved to include dietary elimination, proton pump inhibitors, topical corticosteroids, biologics, and endoscopic interventions for fibrostenotic complications. Emerging therapies targeting cytokines such as interleukin (IL)-4, IL-5, and IL-13, alongside novel diagnostic tools like the esophageal string test and Cytosponge, offer promising avenues for improved disease control and non-invasive monitoring. Long-term surveillance combining endoscopic and histological evaluations with biomarkers and non-invasive tools is critical to optimizing outcomes and preventing complications. Future research should address gaps in understanding the role of the esophageal microbiome, refine therapeutic approaches, and develop personalized strategies to improve disease management and patient quality of life. Full article

(This article belongs to the Special Issue Eosinophilic Gastrointestinal Disorders: Advances in Diagnosis and Management)

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22 pages, 302 KiB

Open AccessReview

Echocardiography with Strain Assessment in Psychiatric Diseases: A Narrative Review

by Aleksandra Spyra, Aleksandra Sierpińska, Alexander Suchodolski, Szymon Florek and Mariola Szulik

Diagnostics 2025, 15(3), 239; https://doi.org/10.3390/diagnostics15030239 - 21 Jan 2025

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Abstract

Mental disorders (MDs) are among the major causes of morbidity and mortality worldwide. Individuals with severe MDs have a shorter life expectancy, primarily due to cardiovascular diseases. Echocardiography facilitates the evaluation of alterations in cardiac morphology and function, resulting from various cardiac pathologies. [...] Read more.

Mental disorders (MDs) are among the major causes of morbidity and mortality worldwide. Individuals with severe MDs have a shorter life expectancy, primarily due to cardiovascular diseases. Echocardiography facilitates the evaluation of alterations in cardiac morphology and function, resulting from various cardiac pathologies. The aim of this review was to explore the current evidence base behind the myocardial deformation observed in echocardiography in patients with MDs. We primarily focused on the data regarding speckle tracking echocardiography. PubMed, using medical subject headings, was searched to identify studies on this topic. The collected data demonstrated changes in myocardial function in schizophrenia, bipolar disorder, depression, anxiety disorder, stressor-related disorder, post-traumatic stress disorder, eating disorders, sleep–wake disorders, substance-related and addictive disorders, neurocognitive disorders, and borderline personality disorder. The recurrent findings included impaired Left Ventricular Ejection Fraction and Left Ventricular Hypertrophy. Global Longitudinal Strain was significantly altered in patients with anorexia nervosa, bipolar disorder, and substance-related disorders. All reported studies support the consideration of cardiology consultations and a multidisciplinary approach in the care of patients with MDs with suspected cardiac dysfunction. Further investigation is warranted to determine the significance and prognostic value of myocardial deformation and strain measurements among individuals with MDs, focusing on the value of early detection, especially in asymptomatic cases. Full article

(This article belongs to the Special Issue Clinical Advances and New Applications in Cardiovascular Imaging)

17 pages, 2379 KiB

Open AccessReview

The Impact of Diagnostic Imaging on Obstructive Sleep Apnea: Feedback from a Narrative Review

by Salvatore Lavalle, Alberto Caranti, Giannicola Iannella, Annalisa Pace, Mario Lentini, Antonino Maniaci, Ruggero Campisi, Luigi La Via, Caterina Giannitto, Edoardo Masiello, Claudio Vicini and Daniela Messineo

Diagnostics 2025, 15(3), 238; https://doi.org/10.3390/diagnostics15030238 - 21 Jan 2025

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Abstract

Obstructive Sleep Apnea is a prevalent sleep disorder characterized by repeated episodes of partial or complete upper airway obstruction during sleep, leading to disrupted sleep and associated comorbidities. Effective, traditional diagnostic methods, such as polysomnography, have limitations in providing comprehensive anatomical detail. Recent [...] Read more.

Obstructive Sleep Apnea is a prevalent sleep disorder characterized by repeated episodes of partial or complete upper airway obstruction during sleep, leading to disrupted sleep and associated comorbidities. Effective, traditional diagnostic methods, such as polysomnography, have limitations in providing comprehensive anatomical detail. Recent advancements in imaging technology have the potential to revolutionize the diagnosis and management of OSA, offering detailed insights into airway anatomy, function, and dynamics. This paper explores the latest innovations in imaging modalities, including high-resolution magnetic resonance imaging, functional MRI, three-dimensional airway reconstructions, and the integration of artificial intelligence algorithms for enhanced image analysis. We discuss the potential of these technologies to improve the precision of OSA diagnosis, tailor treatment strategies, and predict treatment outcomes. Moreover, we examine the challenges of implementing these advanced imaging techniques in clinical practice, such as cost, accessibility, and the need for validation in diverse patient populations. We also consider the ethical implications of widespread imaging, particularly regarding data security and patient privacy. The future of OSA management is poised for transformation as these imaging technologies promise to provide a more nuanced understanding of the disorder and facilitate personalized treatment approaches. This paper calls for continued research and collaboration across disciplines to ensure these innovations lead to improved patient care and outcomes in the field of sleep medicine. Full article

(This article belongs to the Special Issue Diagnosis and Management of Sleep Disorders 2025)

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11 pages, 1935 KiB

Open AccessArticle

Integrating Donor Derived Cell-Free DNA Fraction and Absolute Quantification for Enhanced Rejection Diagnosis in Kidney Transplant Recipients

by Weijian Nie, Yan Wang, Qian Fu, Chenglin Wu, Ronghai Deng, Xiaolin Yu, Caiguo Ye, Xiangjun Liu, Bowen Xu, Pingping Sun, Longshan Liu, Jun Li, Huanxi Zhang and Changxi Wang

Diagnostics 2025, 15(3), 237; https://doi.org/10.3390/diagnostics15030237 - 21 Jan 2025

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Abstract

Background: This study aimed to assess the diagnostic accuracy of combining donor-derived cell-free DNA (dd-cfDNA) fraction and absolute quantification in detecting kidney allograft rejection. Methods: A prospective study was conducted from December 2019 to April 2021 at the First Affiliated Hospital of Sun [...] Read more.

Background: This study aimed to assess the diagnostic accuracy of combining donor-derived cell-free DNA (dd-cfDNA) fraction and absolute quantification in detecting kidney allograft rejection. Methods: A prospective study was conducted from December 2019 to April 2021 at the First Affiliated Hospital of Sun Yat-sen University. Kidney transplant recipients who underwent biopsy, including cases of T-cell-mediated rejection (TCMR), antibody-mediated rejection (ABMR), and borderline rejection, were included. dd-cfDNA fraction and absolute concentrations were measured, and diagnostic efficacy was evaluated using receiver operating characteristic (ROC) analysis. The double-positive and double-negative methods were applied to assess performance. Results: A total of 50 kidney transplant recipients were included. The dd-cfDNA fraction cutoff of 1.08% achieved 93.33% sensitivity and 91.43% specificity (AUC = 0.95), with an NPV of 96.97% and a PPV of 82.35%. The absolute dd-cfDNA threshold of 32 cp/mL yielded 80.00% sensitivity and 71.43% specificity (AUC = 0.78), with an NPV of 89.29% and a PPV of 54.55%. The double-positive method provided superior accuracy, with a PPV of 91.67% and an NPV of 89.47%, demonstrating 73.33% sensitivity and 97.14% specificity. The double-negative method achieved 100% NPV and 100% sensitivity. Conclusions: Combining dd-cfDNA fraction and absolute quantification improves diagnostic accuracy for kidney transplant rejection, especially ABMR. The double-positive and double-negative approaches show high predictive value, offering potential clinical value for monitoring kidney transplant recipients. Full article

(This article belongs to the Special Issue Precision Theranostics in Kidney Transplantation)

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13 pages, 265 KiB

Open AccessReview

How to Effectively Communicate Dismal Diagnoses in Dermatology and Venereology: From Skin Cancers to Sexually Transmitted Infections

by Giulia Ciccarese, Francesco Drago, Astrid Herzum, Mario Mastrolonardo, Laura Atzori, Caterina Foti and Anna Graziella Burroni

Diagnostics 2025, 15(3), 236; https://doi.org/10.3390/diagnostics15030236 - 21 Jan 2025

Viewed by 197

Abstract

Background/Objectives: One of the problematic situations dermatologists face with their patients is communicating dismal diagnoses. Examples are the diagnosis and prognosis of skin cancers like melanoma and Merkel cell carcinoma and the disclosure of the chronic nature of a disease that requires [...] Read more.

Background/Objectives: One of the problematic situations dermatologists face with their patients is communicating dismal diagnoses. Examples are the diagnosis and prognosis of skin cancers like melanoma and Merkel cell carcinoma and the disclosure of the chronic nature of a disease that requires long-term therapies or can lead to scarring or disfiguring conditions. Likewise, receiving a diagnosis of a sexually transmitted infection can be a shocking event that can also put into question the patient’s relationship with his/her partner/partners. Some oncology and internal medicine protocols have been developed to support delivering distressing information. Regrettably, no consensus guidelines exist in dermatology, sexually transmitted infections, or other medical specialties. Methods: The protocols available in the literature to guide the disclosure of a dismal diagnosis have been reviewed in the present work. Results: The different protocols consist of several steps, from 5 to 13, and most of them are summarized by acronyms, such as “SPIKES”, “ABCDE”, and “BREAKS”. The frameworks are listened to and explained in the manuscript. Conclusions: These communication models are suggested to be adapted to dermatology and sexually transmitted infections. Indeed, several studies demonstrated that training in communication skills and techniques to facilitate breaking bad news may improve patient satisfaction and physician comfort. Full article

(This article belongs to the Special Issue Dermatology and Venereology: Diagnosis and Management)

12 pages, 1898 KiB

Open AccessCase Report

Congenital Myasthenic Syndrome-4C in a Consanguineous Romani Family: Genetic Insights and Clinical Implications

by Codruta Diana Petchesi, Aurora Alexandra Jurca, Alexandru Daniel Jurca, Florica Ramona Dorobantu, Alin Remus Iuhas, Emilia Severin and Claudia Maria Jurca

Diagnostics 2025, 15(3), 235; https://doi.org/10.3390/diagnostics15030235 - 21 Jan 2025

Viewed by 182

Abstract

Background and Clinical Significance: Congenital myasthenic syndrome-4C (CMS4C) associated with acetylcholine receptor (AChR) deficiency is an autosomal recessive defect of the motor endplate caused by homozygous or compound heterozygous mutations in the CHRNE gene on chromosome 17p13. Case Presentation: The authors [...] Read more.

Background and Clinical Significance: Congenital myasthenic syndrome-4C (CMS4C) associated with acetylcholine receptor (AChR) deficiency is an autosomal recessive defect of the motor endplate caused by homozygous or compound heterozygous mutations in the CHRNE gene on chromosome 17p13. Case Presentation: The authors present a familial case of CMS4C with three affected children in a consanguineous Romani family. Muscle weakness, fatigue, and ocular muscle impairment were present in all cases; two of the three siblings had delayed motor milestones, highly arched palates, and facial weakness. None of the children expressed bulbar symptoms. One child expressed a severe form, with recurrent respiratory infections, and multiple hospitalizations, while the other siblings expressed a mild phenotype, without hospital admissions. Repetitive nerve stimulation showed a myasthenic-type decrement greater than 10% of several muscles. A pathogenic frameshift variant (NM_000080.4: c.1327del) in the CHRNE gene was found in a homozygous status in all the affected children and in both parents. After 6 months of Pyridostigmine and Salbutamol treatment, the evolution of the case was good, with the improvement of most of the signs and no need for hospitalization. Conclusions: Early genetic diagnosis and appropriate therapy in the context of a multidisciplinary approach is mandatory for an optimal long-term prognosis. Community-wide carrier screening through comprehensive genetic testing is imperative to ensure accurate genetic counseling in genetic isolates. The authors report this case due to the increased number of affected children in a consanguine family from a small Romani community. Full article

(This article belongs to the Section Clinical Diagnosis and Prognosis)

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Diagnostics, Volume 15, Issue 3 (February-1 2025) – 7 articles

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