Special Issue "Rare Disease and Recent Advances in Neonatal and Pediatric Surgery"

A special issue of Children (ISSN 2227-9067). This special issue belongs to the section "Pediatric Surgery".

Deadline for manuscript submissions: 20 December 2021.

Special Issue Editor

Dr. Stephanie Gros
E-Mail Website
Guest Editor
Department of Pediatric Surgery, University Children’s Hospital Basel, 4031 Basel, Switzerland
Interests: pediatric solid tumor; congenital malformations; novel therapeutic strategies for neuroblastoma; inhibition of hypoxia-related tumor progression; hypoxia-related causes of neonatal malformations

Special Issue Information

Dear Colleagues,

Rare diseases in early childhood can be severe and life-threatening. The patho-mechanisms behind most of these diseases are still poorly understood. Some pathologies of early childhood can be corrected, or at least ameliorated, by surgical skills. Pediatric surgeons constantly strive to improve outcomes by the innovation of surgical techniques. Surgical options might, however, be limited due to anatomical or structural limitations, other comorbidities as well as preterm birth or disease progression. Current research is focused on exploring novel treatment options and prevention strategies for these diseases. In order to achieve development in this field, it is of utmost importance to understand the underlying mechanisms in detail.

The goal of this Special Issue of Children is to highlight the current state of research on the underlying mechanisms of neonatal and pediatric diseases and innovative treatment strategies that have a surgical impact. We encourage authors to submit manuscripts on all aspects of surgical research regarding these topics.

Dr. Stephanie Gros
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 papers will be 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. Children is an international peer-reviewed open access monthly 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 1600 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

  • novel surgical treatment
  • novel molecular treatment
  • inhibition of rare solid tumors
  • disease development

Published Papers (6 papers)

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Research

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Article
Increased Proliferation of Neuroblastoma Cells under Fructose Metabolism Can Be Measured by Isothermal Microcalorimetry
Children 2021, 8(9), 784; https://0-doi-org.brum.beds.ac.uk/10.3390/children8090784 - 07 Sep 2021
Viewed by 265
Abstract
Neuroblastoma, like other cancer types, has an increased need for energy. This results in an increased thermogenic profile of the cells. How tumor cells optimize their energy efficiency has been discussed since Warburg described the fact that tumor cells prefer an anaerobic to [...] Read more.
Neuroblastoma, like other cancer types, has an increased need for energy. This results in an increased thermogenic profile of the cells. How tumor cells optimize their energy efficiency has been discussed since Warburg described the fact that tumor cells prefer an anaerobic to an aerobic metabolism in the 1920s. An important question is how far the energy efficiency is influenced by the substrate. The aim of this study was to investigate how the metabolic activity of neuroblastoma cells is stimulated by addition of glucose or fructose to the medium and if this can be measured accurately by using isothermal microcalorimetry. Proliferation of Kelly and SH-EP Tet-21/N cells was determined in normal medium, in fructose-enriched, in glucose-enriched and in a fructose/glucose-enriched environment. Heat development of cells was measured by isothermal microcalorimetry. The addition of fructose, glucose or both to the medium led to increases in the metabolic activity of the cells, resulting in increased proliferation under the influence of fructose. These changes were reflected in an enhanced thermogenic profile, mirroring the results of the proliferation assay. The tested neuroblastoma cells prefer fructose metabolism over glucose metabolism, a quality that provides them with a survival benefit under unfavorable low oxygen and low nutrient supply when fructose is available. This can be quantified by measuring thermogenesis. Full article
(This article belongs to the Special Issue Rare Disease and Recent Advances in Neonatal and Pediatric Surgery)
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Article
Perspective on Similarities and Possible Overlaps of Congenital Disease Formation—Exemplified on a Case of Congenital Diaphragmatic Hernia and Neuroblastoma in a Neonate
Children 2021, 8(2), 163; https://0-doi-org.brum.beds.ac.uk/10.3390/children8020163 - 22 Feb 2021
Viewed by 500
Abstract
The coincidence of two rare diseases such as congenital diaphragmatic hernia (CDH) and neuroblastoma is exceptional. With an incidence of around 2–3:10,000 and 1:8000 for either disease occurring on its own, the chance of simultaneous presentation of both pathologies at birth is extremely [...] Read more.
The coincidence of two rare diseases such as congenital diaphragmatic hernia (CDH) and neuroblastoma is exceptional. With an incidence of around 2–3:10,000 and 1:8000 for either disease occurring on its own, the chance of simultaneous presentation of both pathologies at birth is extremely low. Unfortunately, the underlying processes leading to congenital malformation and neonatal tumors are not yet thoroughly understood. There are several hypotheses revolving around the formation of CDH and neuroblastoma. The aim of our study was to put the respective hypotheses of disease formation as well as known factors in this process into perspective regarding their similarities and possible overlaps of congenital disease formation. We present the joint occurrence of these two rare diseases based on a patient presentation and immunochemical prognostic marker evaluation. The aim of this manuscript is to elucidate possible similarities in the pathogeneses of both disease entities. Discussed are the role of toxins, cell differentiation, the influence of retinoic acid and NMYC as well as of hypoxia. The detailed discussion reveals that some of the proposed pathophysiological mechanisms of both malformations have common aspects. Especially disturbances of the retinoic acid pathway and NMYC expression can influence and disrupt cell differentiation in either disease. Due to the rarity of both diseases, interdisciplinary efforts and multi-center studies are needed to investigate the reasons for congenital malformations and their interlinkage with neonatal tumor disease. Full article
(This article belongs to the Special Issue Rare Disease and Recent Advances in Neonatal and Pediatric Surgery)
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Article
Epidemiology and One-Year Follow-Up of Neonates with CDH-Data from Health Insurance Claims in Germany
Children 2021, 8(2), 160; https://0-doi-org.brum.beds.ac.uk/10.3390/children8020160 - 20 Feb 2021
Viewed by 407
Abstract
Congenital diaphragmatic hernia (CDH) is a major congenital malformation with high mortality. Outcome data on larger unselected patient groups in Germany are unavailable as there is no registry for CDH. Therefore, routine data from the largest German health insurance fund were analyzed for [...] Read more.
Congenital diaphragmatic hernia (CDH) is a major congenital malformation with high mortality. Outcome data on larger unselected patient groups in Germany are unavailable as there is no registry for CDH. Therefore, routine data from the largest German health insurance fund were analyzed for the years 2009–2013. Main outcome measures were incidence, survival and length of hospital stay. Follow-up was 12 months. 285 patients were included. The incidence of CDH was 2.73 per 10,000 live births. Overall mortality was 30.2%. A total of 72.1% of the fatalities occurred before surgery. Highest mortality (64%) was noted in patients who were admitted to specialized care later as the first day of life. Patients receiving surgical repair had a better prognosis (mortality: 10.8%). A total of 67 patients (23.5%) were treated with ECMO with a mortality of 41.8%. The median cumulative hospital stay among one-year survivors was 40 days and differed between ECMO- and non-ECMO-treated patients (91 vs. 32.5 days, p < 0.001). This is the largest German cohort study of CDH patients with a one-year follow-up. The ECMO subgroup showed a higher mortality. Another important finding is that delayed treatment in specialized care increases mortality. Prospective clinical registries are needed to elucidate the treatment outcomes in detail. Full article
(This article belongs to the Special Issue Rare Disease and Recent Advances in Neonatal and Pediatric Surgery)
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Article
AQP1-Driven Migration Is Independent of Other Known Adverse Factors but Requires a Hypoxic Undifferentiated Cell Profile in Neuroblastoma
Children 2021, 8(1), 48; https://0-doi-org.brum.beds.ac.uk/10.3390/children8010048 - 15 Jan 2021
Cited by 1 | Viewed by 573
Abstract
Neuroblastoma is a biologically very heterogeneous tumor with its clinical manifestation ranging from spontaneous regression to highly aggressive metastatic disease. Several adverse factors have been linked to oncogenesis, tumor progression and metastases of neuroblastoma including NMYC amplification, the neural adhesion molecule NCAM, as [...] Read more.
Neuroblastoma is a biologically very heterogeneous tumor with its clinical manifestation ranging from spontaneous regression to highly aggressive metastatic disease. Several adverse factors have been linked to oncogenesis, tumor progression and metastases of neuroblastoma including NMYC amplification, the neural adhesion molecule NCAM, as well as CXCR4 as a promoter of metastases. In this study, we investigate to what extent the expression of AQP1 in neuroblastoma correlates with changing cellular factors such as the hypoxic status, differentiation, expression of known adverse factors such as NMYC and NCAM, and CXCR4-related metastatic spread. Our results show that while AQP1 expression leads to an increased migratory behavior of neuroblastoma cells under hypoxic conditions, we find that hypoxia is associated with a reduction of NMYC in the same cells. A similar effect can be observed when using the tetracycline driven mechanism of SH-EP/Tet cells. When NMYC is not expressed, the expression of AQP1 is increased together with an increased expression of HIF-1α and HIF-2α. We furthermore show that when growing cells in different cell densities, they express AQP1, HIF-1α, HIF-2α, NMYC and NCAM to different degrees. AQP1 expression correlates with a hypoxic profile of these cells with increased HIF-1α and HIF-2α expression, as well as with NMYC and NCAM expression in two out of three neuroblastoma cell lines. When investigating cell properties of the cells that actually migrate, we find that the increased APQ1 expression in the migrated cells correlates with an increased NMYC and NCAM expression again in two out of three cell lines. Expression of the tumor cell homing marker CXCR4 varies between different tumor areas and between cell lines. While some migrated tumor cells highly express CXCR4, cells of other origin do not. In the initial phase of migration, we determined a dominant role of AQP1 expression of migrating cells in the scratch assay. Full article
(This article belongs to the Special Issue Rare Disease and Recent Advances in Neonatal and Pediatric Surgery)
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Review

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Review
Abdominal Wall Defects—Current Treatments
Children 2021, 8(2), 170; https://0-doi-org.brum.beds.ac.uk/10.3390/children8020170 - 23 Feb 2021
Viewed by 637
Abstract
Gastroschisis and omphalocele reflect the two most common abdominal wall defects in newborns. First postnatal care consists of defect coverage, avoidance of fluid and heat loss, fluid administration and gastric decompression. Definitive treatment is achieved by defect reduction and abdominal wall closure. Different [...] Read more.
Gastroschisis and omphalocele reflect the two most common abdominal wall defects in newborns. First postnatal care consists of defect coverage, avoidance of fluid and heat loss, fluid administration and gastric decompression. Definitive treatment is achieved by defect reduction and abdominal wall closure. Different techniques and timings are used depending on type and size of defect, the abdominal domain and comorbidities of the child. The present review aims to provide an overview of current treatments. Full article
(This article belongs to the Special Issue Rare Disease and Recent Advances in Neonatal and Pediatric Surgery)
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Other

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Case Report
Testicular Torsion in the Absence of Severe Pain: Considerations for the Pediatric Surgeon
Children 2021, 8(6), 429; https://0-doi-org.brum.beds.ac.uk/10.3390/children8060429 - 21 May 2021
Viewed by 498
Abstract
Testicular torsion is a surgical emergency. Early diagnosis and surgical treatment are vital in order to preserve the affected gonad. Current surgical teaching emphasizes sudden, severe, persistent, unilateral scrotal pain as a cardinal symptom of testicular torsion. We present the case of unilateral [...] Read more.
Testicular torsion is a surgical emergency. Early diagnosis and surgical treatment are vital in order to preserve the affected gonad. Current surgical teaching emphasizes sudden, severe, persistent, unilateral scrotal pain as a cardinal symptom of testicular torsion. We present the case of unilateral testicular torsion in a 14-year-old patient who presented with the absence of severe pain. Despite a delayed presentation to the emergency department, the gonad could be salvaged successfully. Literature on the topic of testicular torsion presenting with minimal pain is limited. Nevertheless, pediatric surgeons might be faced with cases similar to the one we describe. Underestimating this phenomenon might lead to a delay of treatment. In such cases, ultrasound can be a beneficial addition in the diagnosis and accelerate definitive operative treatment. The presented case clearly demonstrates that, although we do not include testicular torsion without severe pain in our surgical teaching algorithms, we might encounter it in our clinical practice. Full article
(This article belongs to the Special Issue Rare Disease and Recent Advances in Neonatal and Pediatric Surgery)
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