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Diagnostics
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Advances in the Diagnosis and Management of Pediatric Diseases
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Advances in the 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: 30 May 2025 | Viewed by 6944

Special Issue Editor

Dr. Elena Tarca

E-Mail Website
Guest Editor
Department of Surgery II—Pediatric Surgery, University of Medicine and Pharmacy “Gr. T. Popa”, 700115 Iasi, Romania
Interests: pediatric surgery; pediatric orthopedy; urology; neonatology; maternofetal medicine
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

The physiopathology of children differs from that of adults, making it sometimes challenging to diagnose and treat pediatric patients. The broad and diverse spectrum of pediatric patients becomes apparent when we examine patients from the newborn stage, which can include premature birth, through to the age of eighteen, or from very low birth weight to one hundred kilograms in weight.

In this Special Issue, we can include original articles, reviews and case reports on several important topics, as follows:

-Pediatric surgery is a fascinating specialty due to the diversity of pathology but also due to the particularities of each individual child, and the clinical presentation can be a real challenge in order to establish a definite diagnosis and a correct treatment. Traumatology and pediatric oncology are two medical subfields distinct from those encountered in adults, with special peculiarities and challenges.

-Congenital malformations are a broad and intriguing subject that is frequently linked to chromosomal abnormalities, extremely low birth weight and premature birth. The diagnosis of these malformations and their inclusion in certain syndromes is as difficult as the management of these special cases.

We extend an invitation to researchers in all pediatric specialties to share their findings from pediatric patient studies in this Special Issue.

Dr. Elena Tarca
Guest Editor

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
  • pediatric surgery
  • neonatal medicine
  • congenital malformations
  • pediatric trauma
  • pediatric oncology

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Further information on MDPI's Special Issue policies can be found here.

Published Papers (7 papers)

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Research

Jump to: Review, Other

12 pages, 2049 KiB  
Article
Functional Independence of Taiwanese Children with Silver–Russell Syndrome
by Hung-Hsiang Fang, Chung-Lin Lee, Chih-Kuang Chuang, Huei-Ching Chiu, Ya-Hui Chang, Yuan-Rong Tu, Yun-Ting Lo, Jun-Yi Wu, Yen-Yin Chou, Chung-Hsing Wang, Shio-Jean Lin, Shao-Yin Chu, Chen Yang, Tsung-Ying Ou, Hsiang-Yu Lin and Shuan-Pei Lin
Diagnostics 2025, 15(9), 1109; https://doi.org/10.3390/diagnostics15091109 - 27 Apr 2025
Viewed by 215
Abstract
Background: Silver–Russell syndrome (SRS) is a genetic disorder characterized by prenatal and postnatal growth retardation. Affected individuals commonly present with low birth weight, intrauterine growth restriction, postnatal short stature, hemihypotrophy, characteristic facial features, and body asymmetry. Methods: This study includes 24 Taiwanese children [...] Read more.
Background: Silver–Russell syndrome (SRS) is a genetic disorder characterized by prenatal and postnatal growth retardation. Affected individuals commonly present with low birth weight, intrauterine growth restriction, postnatal short stature, hemihypotrophy, characteristic facial features, and body asymmetry. Methods: This study includes 24 Taiwanese children with SRS aged 2 years to 13 years and 3 months who were recruited at MacKay Memorial Hospital and other Taiwan hospitals between January 2013 and December 2024. Functional independence was assessed using the Functional Independence Measure for Children (WeeFIM) to evaluate self-care, mobility, and cognition domains. Results: The mean total WeeFIM score was 106.9 ± 23.2 (range: 54–126), with mean self-care, mobility, and cognition scores of 44.4 ± 13.8 (maximum 56), 32.4 ± 5.1 (maximum 35), and 30.2 ± 6.0 (maximum 35), respectively. The results of the restricted cubic spline analysis reveal a clear positive linear correlation before school age (approximately 72 months), followed by a plateau (p for nonlinearity < 0.05). Traceable molecular data were available for thirteen participants, of whom nine (69%) had loss of methylation at chromosome 11p15 (11p15LOM), and four (31%) had maternal uniparental disomy of chromosome 7 (upd(7)mat). Of the 24 children, 46% required assistance with bathing, which was strongly correlated with self-care ability and body height. In contrast, most of the children had independence in mobility tasks such as walking and stair climbing. However, some required support in cognitive tasks, including problem-solving, comprehension, and expression. Overall, the included children reached a functional plateau later than the normative population, with the greatest delays in self-care and mobility domains. Conclusions: This study highlights that Taiwanese children with SRS require support in self-care and cognitive tasks. Functional independence in self-care and mobility domains was positively associated with body height. The WeeFIM questionnaire effectively identified strengths and limitations, emphasizing the need for individualized support in daily activities. Full article
(This article belongs to the Special Issue Advances in the Diagnosis and Management of Pediatric Diseases)
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10 pages, 2740 KiB  
Article
Manometric Evaluation of the Sphincter Complex in Anterior Anus and Mild Anorectal Malformations—An Important Diagnostic Tool
by Jonathan Hencke, Raphael Staubach and Steffan Loff
Diagnostics 2025, 15(9), 1078; https://doi.org/10.3390/diagnostics15091078 - 24 Apr 2025
Viewed by 151
Abstract
Background: Distinguishing between the anatomical variant of an anterior anus and mild forms of imperforate anus with rectoperineal fistula often requires inspection, calibration, and, in uncertain cases, electrical stimulation (ES) under general anesthesia. Anorectal manometry (AM), despite its ability to assess sphincter configuration [...] Read more.
Background: Distinguishing between the anatomical variant of an anterior anus and mild forms of imperforate anus with rectoperineal fistula often requires inspection, calibration, and, in uncertain cases, electrical stimulation (ES) under general anesthesia. Anorectal manometry (AM), despite its ability to assess sphincter configuration and function, is rarely reported as a diagnostic tool. This study evaluated the utility of AM in such cases. Methods: A retrospective analysis of AM and clinical data from 38 patients (35 female, 3 male) with suspected anterior anus was conducted from October 2009 to September 2021. Water-perfused catheter probes with eight radial channels were used to perform pull-through maneuvers. Sphincter locations were identified through vector reconstruction, and pressure ratios of the anterior part to the circumference were recorded. Results were compared to clinical data, including ES findings. Statistical significance was assessed using Mann–Whitney U and Chi-Square tests. Results: Following AM, ES was unnecessary in 25 patients. Of the remaining patients, 83% showed abnormal sphincter configurations on ES, and seven underwent anoplasty. Patients with abnormal sphincter complexes demonstrated significantly lower mean anterior pressures (61.2 mmHg vs. 136.4 mmHg, U = 336.5, p = 0.001) and a trend toward lower anterior-to-circumferential pressure ratios (mean 0.42 vs. 0.85, U = 613, p = 0.270). Constipation was also more frequent in this group (X2(1,N = 38) = 4.1, p = 0.044). Average anterior pressures < 75 mmHg and ratios < 0.7 indicated an anus outside the sphincter complex (sensitivity 80%, specificity 90%). Conclusions: AM proves valuable for evaluating ambiguous anterior anus cases, potentially reducing reliance on ES under general anesthesia. 3D high-resolution AM may further increase diagnostic accuracy. Full article
(This article belongs to the Special Issue Advances in the Diagnosis and Management of Pediatric Diseases)
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12 pages, 898 KiB  
Article
Assessing Differential Transfusion Requirements for Children with Congenital Malformations vs. Pediatric Acute Abdomen Emergencies
by Alin Ionescu, Alexandra Mihăilescu, Adela Chiriță-Emandi, Nitesh Munagala, Vlad Laurențiu David, Raluca Dumache, Dorel Săndesc, Ovidiu Bedreag, Roxana Folescu, Felix Bratosin, Paula Irina Barata, Dan-Mihai Cristescu and Mihai Alexandru Săndesc
Diagnostics 2024, 14(19), 2216; https://doi.org/10.3390/diagnostics14192216 - 4 Oct 2024
Viewed by 946
Abstract
Background and Objectives: This retrospective study aimed to evaluate the efficacy of preoperative blood transfusions in correcting anemia for pediatric patients with congenital malformations (CMs) versus those with acute abdomen (AA) conditions. The study hypothesized that the response to transfusions might vary significantly [...] Read more.
Background and Objectives: This retrospective study aimed to evaluate the efficacy of preoperative blood transfusions in correcting anemia for pediatric patients with congenital malformations (CMs) versus those with acute abdomen (AA) conditions. The study hypothesized that the response to transfusions might vary significantly between these groups due to the differences in the underlying pathology and clinical status. Methods: The study included 107 pediatric patients admitted to Timisoara ‘Louis Turcanu’ Emergency Hospital for Children between January 2015 and May 2023, who required blood transfusions for preoperative anemia. Hemoglobin (HGB), hematocrit (HCT), and red blood cell counts (RBC) were assessed at admission, 48 h post-transfusion, and at discharge. Statistical analyses, including Student’s t-test, Pearson correlation, and chi-square tests, were utilized to compare outcomes between the groups. The study population was divided into 53 children with CM and 54 with AA. Results: Initial analyses showed that children with CM had statistically significantly higher baseline HGB (8.54 ± 1.00 g/dL vs. 7.87 ± 1.02 g/dL, p = 0.001) and HCT (26.07 ± 3.98% vs. 23.95 ± 2.90%, p = 0.002) compared to those with AA. Post-transfusion, children with CM exhibited a greater increase in HGB, with the highest increases noted in patients with central nervous system defects (mean increase of 3.67 g/dL, p = 0.038). In contrast, the increases in HGB for children with AA were less pronounced, with the highest being 2.03 g/dL in those with peritonitis (p = 0.078). Conclusions: No significant gender differences were noted in response to transfusion. Children with congenital malformations respond more effectively to preoperative blood transfusions compared to those with acute abdomen conditions. These findings suggest that differential transfusion strategies may be required based on the underlying medical condition to optimize the management of preoperative anemia in pediatric patients. Tailoring transfusion approaches according to specific patient needs and conditions could enhance clinical outcomes and resource utilization in pediatric surgical settings. Full article
(This article belongs to the Special Issue Advances in the Diagnosis and Management of Pediatric Diseases)
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Review

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21 pages, 2737 KiB  
Review
From Genes to Treatment: Literature Review and Perspectives on Acid Sphingomyelinase Deficiency in Children
by Raluca Maria Vlad, Ruxandra Dobritoiu and Daniela Pacurar
Diagnostics 2025, 15(7), 804; https://doi.org/10.3390/diagnostics15070804 - 21 Mar 2025
Viewed by 356
Abstract
Background: Acid sphingomyelinase deficiency (ASMD), most commonly known as Niemann–Pick disease (NPD), is a rare progressive genetic disorder regarding lipid storage. Subtypes A and B are inherited in an autosomal recessive fashion and consist of a genetic defect which affects the sphingomyelin phosphodiesterase [...] Read more.
Background: Acid sphingomyelinase deficiency (ASMD), most commonly known as Niemann–Pick disease (NPD), is a rare progressive genetic disorder regarding lipid storage. Subtypes A and B are inherited in an autosomal recessive fashion and consist of a genetic defect which affects the sphingomyelin phosphodiesterase 1 gene, leading to residual or lack of enzymatic activity of acid sphingomyelinase (ASM). Materials and Methods: This paper provides a brief history and overview to date of the disease and a comprehensive review of the current literature on ASMD in children, conducted on published papers from the past 10 years. Results: We identified 19 original publications (16 individual case reports and three series of cases—30 patients). The male/female ratio was 1.4. The youngest patient at disease onset was a female newborn with NPD-A. The youngest patient was diagnosed at 4 months. The longest timeframe between onset symptoms and diagnostic moment was 5 years 3 months. A total of nine patients exhibited red cherry macular spots. A total of 13 children exhibited associated lung disease, and four NPD-A patients with pulmonary disease died due to respiratory complications. A total of 11 children exhibited associated growth impairment. Genetic assays were performed in 25 cases (15 homozygous; 9 heterozygous). A total of four children (13.3%) received enzyme replacement therapy (ERT). Therapy outcomes included decreased liver and spleen volumes, improved platelet and leukocytes counts, and body mass index and stature improvement. Conclusions: Sometimes, a small child with a big belly hides a huge dilemma; inherited metabolic disorders are here to challenge clinicians and set the record straight, and genetics is the way of the future in terms of diagnosis and novel treatments. NPD must be considered children with persistent and progressive hepatosplenomegaly and growth failure. Diagnosis requires good clinical skills and access to genetic assays. Since 2022, the FDA has given a green light to a revolutionary enzymatic replacement therapy with human recombinant ASM called Olipudase-alfa. Clinical trial outcomes support its reliability and efficacy in the pediatric population. Full article
(This article belongs to the Special Issue Advances in the Diagnosis and Management of Pediatric Diseases)
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18 pages, 330 KiB  
Review
Omphalocele and Associated Anomalies: Exploring Pulmonary Development and Genetic Correlations—A Literature Review
by Dina Al Namat, Romulus Adrian Roșca, Razan Al Namat, Elena Hanganu, Andrei Ivan, Delia Hînganu, Ancuța Lupu and Marius Valeriu Hînganu
Diagnostics 2025, 15(6), 675; https://doi.org/10.3390/diagnostics15060675 - 10 Mar 2025
Viewed by 640
Abstract
Omphalocele is a rare congenital abdominal wall defect, occurring in approximately 3.38 per 10,000 pregnancies. It is characterized by the herniation of abdominal organs through the base of the umbilical cord, enclosed by a peritoneal sac. While omphalocele can occur as an isolated [...] Read more.
Omphalocele is a rare congenital abdominal wall defect, occurring in approximately 3.38 per 10,000 pregnancies. It is characterized by the herniation of abdominal organs through the base of the umbilical cord, enclosed by a peritoneal sac. While omphalocele can occur as an isolated anomaly, it is more commonly associated with congenital syndromes and structural abnormalities. Among its most significant complications, pulmonary hypoplasia (PH) and pulmonary hypertension (PPH) have been shown to negatively impact neonatal prognosis. These conditions result from impaired pulmonary vascular development, leading to respiratory distress and hypoxemia. Unlike many congenital disorders, there is no universally accepted surgical approach for omphalocele repair. The choice of surgical strategy depends on multiple factors, including the size of the abdominal wall defect, presence of herniated solid organs, associated anomalies, and severity of pulmonary complications. Notably, giant omphaloceles are frequently linked to lung hypoplasia, as reduced intra-abdominal space restricts fetal lung expansion, leading to structural lung abnormalities and increased pulmonary vascular resistance. These factors contribute to a higher risk of respiratory morbidity and mortality in affected neonates. This literature review examines the prevalence, significance, and clinical implications of the association between omphalocele and pulmonary abnormalities. Through a systematic analysis of published studies, we evaluated 157 full-text articles along with available titles and abstracts. Our findings indicate that infants with omphalocele often exhibit respiratory complications detectable prenatally and at birth. Severe respiratory insufficiency, particularly due to pulmonary hypoplasia and pulmonary hypertension, significantly increases neonatal morbidity and mortality. While surgical correction may initially exacerbate respiratory challenges, most patients demonstrate short-term recovery with appropriate multidisciplinary management. This review highlights the importance of early diagnosis, comprehensive prenatal assessment, and tailored postnatal management to improve outcomes in newborns with omphalocele and associated pulmonary complications. Further research is needed to establish standardized treatment protocols and optimize long-term respiratory outcomes in these patients. Full article
(This article belongs to the Special Issue Advances in the Diagnosis and Management of Pediatric Diseases)

Other

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9 pages, 601 KiB  
Case Report
Monosomy 18p with Unbalanced Translocation Between 13 and 18 Chromosomes: First Reported Case in Serbia
by Bojana Marković, Marina Gazdić Janković, Zoran Igrutinović, Raša Medović, Nevena Stojadinović and Biljana Ljujić
Diagnostics 2025, 15(3), 358; https://doi.org/10.3390/diagnostics15030358 - 4 Feb 2025
Viewed by 644
Abstract
Background: Monosomy 18p is a chromosomal disorder resulting from the deletion of the short arm of chromosome 18. While a lot of cases result from the partial deletion of 18p, only a few reported cases are caused by the deletion of the [...] Read more.
Background: Monosomy 18p is a chromosomal disorder resulting from the deletion of the short arm of chromosome 18. While a lot of cases result from the partial deletion of 18p, only a few reported cases are caused by the deletion of the whole short arm of chromosome 18 due to unbalanced translocations occurring between chromosomes 13 and 18 (13;18). 18p- monosomy presents with a variety of clinical manifestations, including facial dysmorphism, intellectual disability, and short stature, among others. Case presentation: Here, we report a case of a one-year-old girl with 18p- monosomy resulting from an unbalanced translocation between chromosomes 13 and 18 (45, XX, t(13;18) (q12:p11.2)). Our patient had facial dysmorphism and stunted growth. Additionally, she had hypotonia and required thyroxine supplementation from a young age. To our knowledge, this is the first case of astigmatism in a patient with this deletion and an unbalanced translocation between chromosomes 13 and 18. Conclusions: The present case demonstrates the phenotypic spectrum of a rare variant of monosomy 18 caused by an unbalanced whole-arm translocation between chromosomes 13 and 18. Our study emphasizes the significance of cytogenetic testing to diagnose this disease, which has been described only five times in the literature. Full article
(This article belongs to the Special Issue Advances in the Diagnosis and Management of Pediatric Diseases)
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20 pages, 4316 KiB  
Systematic Review
Diagnosis and Management of Simple and Complicated Meconium Ileus in Cystic Fibrosis, a Systematic Review
by Mădălina Andreea Donos, Gabriela Ghiga, Laura Mihaela Trandafir, Elena Cojocaru, Viorel Țarcă, Lăcrămioara Ionela Butnariu, Valentin Bernic, Eugenia Moroșan, Iulia Cristina Roca, Dana Elena Mîndru and Elena Țarcă
Diagnostics 2024, 14(11), 1179; https://doi.org/10.3390/diagnostics14111179 - 4 Jun 2024
Cited by 2 | Viewed by 3071
Abstract
The early management of neonates with meconium ileus (MI) and cystic fibrosis (CF) is highly variable across countries and is not standardized. We conducted a systematic review according to the Preferred Reporting Items for Systematic Reviews and Meta-analyses statement. The protocol was registered [...] Read more.
The early management of neonates with meconium ileus (MI) and cystic fibrosis (CF) is highly variable across countries and is not standardized. We conducted a systematic review according to the Preferred Reporting Items for Systematic Reviews and Meta-analyses statement. The protocol was registered in PROSPERO (CRD42024522838). Studies from three providers of academic search engines were checked for inclusion criteria, using the following search terms: meconium ileus AND cystic fibrosis OR mucoviscidosis. Regarding the patient population studied, the inclusion criteria were defined using our predefined PICOT framework: studies on neonates with simple or complicated meconium which were confirmed to have cystic fibrosis and were conservatively managed or surgically treated. Results: A total of 566 publications from the last 10 years were verified by the authors of this review to find the most recent and relevant data, and only 8 met the inclusion criteria. Prenatally diagnosed meconium pseudocysts, bowel dilation, and ascites on ultrasound are predictors of neonatal surgery and risk factor for negative 12-month clinical outcomes in MI-CF newborns. For simple MI, conservative treatment with hypertonic solutions enemas can be effective in more than 25% of cases. If repeated enemas fail to disimpact the bowels, the Bishop–Koop stoma is a safe option. No comprehensive research has been conducted so far to determine the ideal surgical protocol for complicated MI. We only found three studies that reported the types of stomas performed and another study comparing the outcomes of patients depending on the surgical management; the conclusions are contradictory especially since the number of cases analyzed in each study was small. Between 18% and 38% of patients with complicated MI will require reoperation for various complications and the mortality rate varies between 0% and 8%. Conclusion: This study reveals a lack of strong data to support management decisions, unequivocally shows that the care of infants with MI is not standardized, and suggests a great need for international collaborative studies. Full article
(This article belongs to the Special Issue Advances in the Diagnosis and Management of Pediatric Diseases)
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