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Diagnostics
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Critical Issues in Diagnosis and Management of Pediatric Diseases
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Critical Issues in Diagnosis and Management of Pediatric Diseases

A special issue of Diagnostics (ISSN 2075-4418). This special issue belongs to the section "Pathology and Molecular Diagnostics".

Deadline for manuscript submissions: closed (28 February 2025) | Viewed by 7931

Special Issue Editors

Dr. Xenophon Sinopidis

E-Mail Website
Guest Editor
Department of Pediatric Surgery, University of Patras, 26504 Patras, Greece
Interests: pediatric surgery; neonatal surgery; pediatric urology; urinary tract infections; vesicoureteral reflux; obstructive uropathies; undescended testes; hypospadias
Dr. Sotirios Fouzas

E-Mail Website
Guest Editor
Pediatric Respiratory Unit, Department of Pediatrics, University of Patras, 26504 Patras, Greece
Interests: respiratory physiology; lung development; asthma; cariopulmonary exercise testing
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

We live in an era of enormous technological advancements in every field of medicine. Pediatrics and pediatric subspecialties have been significantly influenced by this evolution, which has led to both advancements and setbacks. Paraclinical diagnostic interventions allow us to identify congenital and other diseases with speed and efficacy that our predecessors in medical practice could never have imagined. The use of ultrasound, computed tomography, magnetic resonance imaging, molecular and biochemical examinations, genetic assays, is evolving day by day, proving essential tools for pediatric medicine, while novel pharmaceutical factors and treatment interventional modalities provide solutions to difficult—and in many cases, formerly uncurable—conditions. However, these diagnostic conveniences have often negatively affected clinical practice, particularly medical history and clinical examination, especially among younger clinicians. Furthermore, the ease of the use of pharmaceutical agents has led to drug overuse, as exemplified by the bacterial resistance resulting from overuse of antibiotics.

In this Special Issue, we will explore the diagnostic and therapeutic experiences of colleagues in various sectors of pediatrics and their associated specialties. We are seeking original articles and comprehensive reviews which investigate the advancements in diagnosis and management of pediatric diseases, and how they have affected clinical practice. We are particularly interested in works that address researchers’ difficulties, complications, and concerns, and in their proposals for future practice.

Dr. Xenophon Sinopidis
Dr. Sotirios Fouzas
Guest Editors

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Diagnostics is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • pediatrics
  • neonatology
  • pediatric endocrinology
  • pediatric pulmonary disease
  • pediatric surgery
  • pediatric infectious diseases
  • pediatric nephrology
  • pediatric cardiology
  • pediatric radiology
  • pediatric gastroenterology
  • pediatric nephrology
  • pediatric urology
  • pediatric oncology

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Published Papers (6 papers)

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Research

Jump to: Review, Other

13 pages, 4984 KiB  
Article
Particularities in the “Oldie but Goldie” Tc-99m DMSA Renography: A Retrospective Reference Centre Overview of 931 Children
by Irena Cristina Grierosu, Iuliana Magdalena Starcea, Wael Jalloul, Maria Adriana Mocanu, Roxana Alexandra Bogos, Tudor Ilie Lazaruc, Madalina Andreea Beldie, Ruxandra Tibu, Teodor Marian Ionescu, Cati Raluca Stolniceanu, Brindusa Casiana Acsinte, Cipriana Stefanescu, Alexandra Saviuc and Vlad Ghizdovat
Diagnostics 2025, 15(8), 1025; https://doi.org/10.3390/diagnostics15081025 - 17 Apr 2025
Viewed by 216
Abstract
Background/Objectives: The Tc-99m dimercaptosuccinic acid (DMSA) renal scan clearly images the renal cortex, highlighting functional tissue areas and indicating regions of renal scarring, infection, malformations, or other types of renal damage. To enhance the management of paediatric cases involving renal malformations and [...] Read more.
Background/Objectives: The Tc-99m dimercaptosuccinic acid (DMSA) renal scan clearly images the renal cortex, highlighting functional tissue areas and indicating regions of renal scarring, infection, malformations, or other types of renal damage. To enhance the management of paediatric cases involving renal malformations and to reduce the incidence of chronic and progressive kidney diseases in “future adults”, our study aims to identify and categorise various renal anomalies. Methods: This has been achieved by analysing the Tc-99m DMSA renal scans of a large cohort of 931 children diagnosed with different renal pathologies. After interpreting the scans, we categorised the renal malformations and cortical modifications into four groups: kidney number anomalies, positional anomalies, structural anomalies, and shape anomalies. Results: There has been a notable increase in the demand for renal scintigraphy in recent years, rising from 82 cases in 2019 to 183 cases in 2024. Structural anomalies were the most common type of malformations (73% from all patients), featuring a significant variety of cortical modifications. In total, 98 cases (93% from kidney number anomalies and 10.5% from all children) were diagnosed with renal agenesis. Additionally, 30 children (3.2% from all patients) had positional anomalies, primarily ectopic kidneys, and 54 patients (5.8% from all cases) had shape malformations, especially fused kidneys. Conclusions: Combining the Tc-99m DMSA renal scan with ultrasound provides a more reliable diagnosis of paediatric renal progressive diseases. A more accurate diagnosis allows for quicker treatment and prevention of potential complications, ultimately improving the quality of life and decreasing hospital costs of paediatric patients becoming adults. Full article
(This article belongs to the Special Issue Critical Issues in Diagnosis and Management of Pediatric Diseases)
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12 pages, 596 KiB  
Article
Monocyte Chemoattractant Protein-1 (MCP-1), Activin-A and Clusterin in Children and Adolescents with Obesity or Type-1 Diabetes Mellitus
by Eirini Kostopoulou, Dimitra Kalavrizioti, Panagiota Davoulou, Evangelos Papachristou, Xenophon Sinopidis, Sotirios Fouzas, Theodore Dassios, Despoina Gkentzi, Stavroula Ioanna Kyriakou, Ageliki Karatza, Gabriel Dimitriou, Dimitrios Goumenos, Bessie E. Spiliotis, Panagiotis Plotas and Marios Papasotiriou
Diagnostics 2024, 14(4), 450; https://doi.org/10.3390/diagnostics14040450 - 19 Feb 2024
Cited by 4 | Viewed by 2236
Abstract
Inflammation plays a crucial role in diabetes and obesity through macrophage activation. Macrophage chemoattractant protein-1 (MCP-1), activin-A, and clusterin are chemokines with known roles in diabetes and obesity. The aim of this study is to investigate their possible diagnostic and/or early prognostic values [...] Read more.
Inflammation plays a crucial role in diabetes and obesity through macrophage activation. Macrophage chemoattractant protein-1 (MCP-1), activin-A, and clusterin are chemokines with known roles in diabetes and obesity. The aim of this study is to investigate their possible diagnostic and/or early prognostic values in children and adolescents with obesity and type-1 diabetes mellitus (T1DM). Methods: We obtained serum samples from children and adolescents with a history of T1DM or obesity, in order to measure and compare MCP-1, activin-A, and clusterin concentrations. Results: Forty-three subjects were included in each of the three groups (controls, T1DM, and obesity). MCP-1 values were positively correlated to BMI z-score. Activin-A was increased in children with obesity compared to the control group. A trend for higher values was detected in children with T1DM. MCP-1 and activin-A levels were positively correlated. Clusterin levels showed a trend towards lower values in children with T1DM or obesity compared to the control group and were negatively correlated to renal function. Conclusions: The inflammation markers MCP-1, activin-A, and clusterin are not altered in children with T1DM. Conversely, obesity in children is positively correlated to serum MCP-1 values and characterized by higher activin-A levels, which may reflect an already established systematic inflammation with obesity since childhood. Full article
(This article belongs to the Special Issue Critical Issues in Diagnosis and Management of Pediatric Diseases)
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13 pages, 1438 KiB  
Article
Psychometric Properties of the Greek Version of the Autism Parenting Stress Index (APSI) among Parents of Children with Autism Spectrum Disorder
by Angelos Papadopoulos, Stefania Fouska, Dionysios Tafiadis, Nikolaos Trimmis, Panagiotis Plotas and Vassiliki Siafaka
Diagnostics 2023, 13(20), 3259; https://doi.org/10.3390/diagnostics13203259 - 19 Oct 2023
Cited by 1 | Viewed by 2132
Abstract
(1) Background: This study aimed to validate the Greek version of the Autism Parenting Stress Index (APSI) among parents of children with ASD. (2) Methods: The translated version was administered to 113 parents (Male: 12, Female: 101, 39.24 years old, SD 6.70, age [...] Read more.
(1) Background: This study aimed to validate the Greek version of the Autism Parenting Stress Index (APSI) among parents of children with ASD. (2) Methods: The translated version was administered to 113 parents (Male: 12, Female: 101, 39.24 years old, SD 6.70, age range, 25–58) of children diagnosed with ASD and 127 parents (Male: 24, Female: 103, 41.08 years old, SD 6.22, age range: 27–56) of typically developing children. (3) Results: Significant differences between the APSI total scores and three domains between groups were observed. Although the initial factor structure could not be replicated, the APSI’s internal consistency was excellent (a = 0.914), with a high positive item–total correlation (0.900–0.917). The APSI’s test–retest reliability was excellent, showing an ICC equal to 0.922 [95%, CI: 0.900–0.940]. The APSI’s total score cut-off point was equal to 12.00 (AUC 0.845, p < 0.001) with a sensitivity of 0.839 and 1-specificity of 0.220. A principal component analysis of the 13 items, using varimax rotations, identified three factors, which explained approximately 45.8% of the overall variance. (4) Conclusions: The Greek version of the APSI exhibited discriminant validity for measuring parents of children with ASD. Greek health professionals can use it to assess the stress experienced by parents of children with ASD. Full article
(This article belongs to the Special Issue Critical Issues in Diagnosis and Management of Pediatric Diseases)
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Review

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14 pages, 656 KiB  
Review
Lactate, an Essential Metabolic Marker in the Diagnosis and Management of Pediatric Conditions
by Alina Belu, Nina Filip, Laura Mihaela Trandafir, Elena Lia Spoială, Elena Țarcă, Diana Zamosteanu, Gabriela Ghiga, Jana Bernic, Alina Jehac and Elena Cojocaru
Diagnostics 2025, 15(7), 816; https://doi.org/10.3390/diagnostics15070816 - 23 Mar 2025
Viewed by 768
Abstract
Measurement of circulating lactate is an essential diagnostic tool in pediatric medicine, playing a crucial role in assessing metabolic status and tissue oxygenation. Initially regarded as a byproduct of anaerobic metabolism, recent research has expanded our understanding of lactate’s roles across various physiological [...] Read more.
Measurement of circulating lactate is an essential diagnostic tool in pediatric medicine, playing a crucial role in assessing metabolic status and tissue oxygenation. Initially regarded as a byproduct of anaerobic metabolism, recent research has expanded our understanding of lactate’s roles across various physiological systems, from energy metabolism to immune modulation and neurological health. Elevated lactate levels are widely utilized to monitor critical conditions such as sepsis, trauma, and hypoxic–ischemic injury, offering valuable prognostic information in intensive care settings. Notably, lactate dynamics—particularly trends in serial measurements—are more effective than single readings for predicting clinical outcomes, especially in sepsis and trauma. Measurement of circulating lactate in different body fluids (blood, cerebrospinal fluid, and umbilical blood) provides critical insights into neonatal health and central nervous system involvement. However, challenges remain, including the need for non-invasive and rapid point-of-care testing, particularly in neonatal populations. Our aim was to review and synthesize the current literature on the role and particularities of measurement of circulating lactate in pediatric pathology. Emerging technologies, such as machine learning models and small molecule inhibitors, show promise in advancing lactate regulation and predicting hemodynamic instability. As the role of lactate in pediatric pathology continues to evolve, optimizing measurement protocols and exploring new therapeutic strategies will enhance early detection, intervention, and clinical outcomes for critically ill children. Full article
(This article belongs to the Special Issue Critical Issues in Diagnosis and Management of Pediatric Diseases)
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Other

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12 pages, 3753 KiB  
Case Report
Lactate Levels in a Replanted Limb as an Early Biomarker for Assessing Post-Surgical Evolution: A Case Report
by Alina Belu, Viorel Țarcă, Nina Filip, Elena Țarcă, Laura Mihaela Trandafir, Rodica Elena Heredea, Silviana Chifan, Diana Elena Parteni, Jana Bernic and Elena Cojocaru
Diagnostics 2025, 15(6), 688; https://doi.org/10.3390/diagnostics15060688 - 11 Mar 2025
Viewed by 470
Abstract
Background and Clinical Significance: In the clinical management of major pediatric traumatic injuries and other hypoxic conditions, lactate is widely recognized as a key indicator of tissue hypoxia and potential necrosis. However, its prognostic value remains uncertain. Several factors influence post-surgical outcomes, including the [...] Read more.
Background and Clinical Significance: In the clinical management of major pediatric traumatic injuries and other hypoxic conditions, lactate is widely recognized as a key indicator of tissue hypoxia and potential necrosis. However, its prognostic value remains uncertain. Several factors influence post-surgical outcomes, including the time between amputation and replantation, transport conditions, asepsis, the extent of tissue necrosis, hemorrhagic shock, coagulation disorders, and the heightened risk of contamination. Case presentation: We present this case to emphasize the utility of systemic lactate versus lactate levels in the replanted limb for monitoring post-transplantation outcomes in a pediatric patient with traumatic limb amputation. Significant fluctuations in lactate levels within the replanted limb were observed at the onset of unfavorable evolution, specifically on the seventh postoperative day, coinciding with the identification of Aspergillus spp. infection. This necessitated the use of synthetic saphenous vein grafts and Amphotericin B administration. Despite these interventions, disease progression ultimately led to limb amputation. Conclusions: Lactate levels in the replanted limb may serve as an early biomarker for assessing post-surgical evolution. However, further case reports are required to confirm its predictive value. Full article
(This article belongs to the Special Issue Critical Issues in Diagnosis and Management of Pediatric Diseases)
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13 pages, 11521 KiB  
Case Report
Juvenile Osteochondritis Dissecans: A Case Report
by Hermann Nudelman, Aba Lőrincz, Tamás Kassai and Gergő Józsa
Diagnostics 2024, 14(17), 1931; https://doi.org/10.3390/diagnostics14171931 - 1 Sep 2024
Viewed by 1488
Abstract
(1) Background: This report aims to illustrate the development, progression, diagnosis, and treatment of chronically present articular surface lesions. (2) Methods: In this report, two patients are described from the point of the initial presentation of symptoms to surgical consultation based on radiologic [...] Read more.
(1) Background: This report aims to illustrate the development, progression, diagnosis, and treatment of chronically present articular surface lesions. (2) Methods: In this report, two patients are described from the point of the initial presentation of symptoms to surgical consultation based on radiologic findings. These patients underwent corrective surgery in the form of mosaicplasty to repair lesions present on the articular surface and the underlying subchondral bone. (3) Discussion: Diagnosing juvenile OCD remains challenging due to its variable clinical presentation and minute radiologic discoveries. X-rays are useful; however, the gold standard remains arthroscopy, which can be both diagnostic and therapeutic. Future prospects include the use of novel sonographic methods and the use of artificial intelligence within the given modalities. (4) Conclusions: The detailed imaging provided by MRI, combined with the insights from X-rays and potentially other modalities, allows for a nuanced understanding of this disease. This comprehensive approach ensures that treatment decisions are well-informed, optimising outcomes for young patients with this condition. Full article
(This article belongs to the Special Issue Critical Issues in Diagnosis and Management of Pediatric Diseases)
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