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: closed (20 June 2022) | Viewed by 24168

Special Issue Editor


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 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. 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 2400 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 (5 papers)

Order results
Result details
Select all
Export citation of selected articles as:

Research

Jump to: Review, Other

9 pages, 220 KiB  
Article
Prenatal Detection of Congenital Duodenal Obstruction—Impact on Postnatal Care
by Kerstin Saalabian, Florian Friedmacher, Till-Martin Theilen, Daniel Keese, Udo Rolle and Stefan Gfroerer
Children 2022, 9(2), 160; https://doi.org/10.3390/children9020160 - 26 Jan 2022
Cited by 6 | Viewed by 2577
Abstract
Background: Duodenal obstruction is a rare cause of congenital bowel obstruction. Prenatal ultrasound could be suggestive of duodenal atresia if polyhydramnios and the double bubble sign are visible. Prenatal diagnosis should prompt respective prenatal care, including surgery. The aim of this study was [...] Read more.
Background: Duodenal obstruction is a rare cause of congenital bowel obstruction. Prenatal ultrasound could be suggestive of duodenal atresia if polyhydramnios and the double bubble sign are visible. Prenatal diagnosis should prompt respective prenatal care, including surgery. The aim of this study was to investigate the rate and importance of prenatally diagnosed duodenal obstruction, comparing incomplete and complete duodenal obstruction. Methods: A retrospective, single-center study was performed using data from patients operated on for duodenal obstruction between 2004 and 2019. Prenatal ultrasound findings were obtained from maternal logbooks and directly from the investigating obstetricians. Postnatal data were obtained from electronic charts, including imaging, operative notes and follow-up. Results: A total of 33/64 parents of respective patients agreed to provide information on prenatal diagnostics. In total, 11/15 patients with complete duodenal obstruction and 0/18 patients with incomplete duodenal obstruction showed typical prenatal features. Prenatal diagnosis prompted immediate surgical treatment after birth. Conclusion: Prenatal diagnosis of congenital duodenal obstruction is only achievable in cases of complete congenital duodenal obstruction by sonographic detection of the pathognomonic double bubble sign. Patients with incomplete duodenal obstruction showed no sign of duodenal obstruction on prenatal scans and thus were diagnosed and treated later. Full article
(This article belongs to the Special Issue Rare Disease and Recent Advances in Neonatal and Pediatric Surgery)
7 pages, 424 KiB  
Article
Increased Proliferation of Neuroblastoma Cells under Fructose Metabolism Can Be Measured by Isothermal Microcalorimetry
by Nicola Pini, Zihe Huo, Stefan Holland-Cunz and Stephanie J. Gros
Children 2021, 8(9), 784; https://doi.org/10.3390/children8090784 - 7 Sep 2021
Cited by 2 | Viewed by 1811
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)
Show Figures

Graphical abstract

9 pages, 1478 KiB  
Article
Epidemiology and One-Year Follow-Up of Neonates with CDH-Data from Health Insurance Claims in Germany
by Boris Wittekindt, Nora Doberschuetz, Andrea Schmedding, Till-Martin Theilen, Rolf Schloesser, Stefan Gfroerer and Udo Rolle
Children 2021, 8(2), 160; https://doi.org/10.3390/children8020160 - 20 Feb 2021
Cited by 7 | Viewed by 1950
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)
Show Figures

Figure 1

Review

Jump to: Research, Other

17 pages, 1117 KiB  
Review
Abdominal Wall Defects—Current Treatments
by Isabella N. Bielicki, Stig Somme, Giovanni Frongia, Stefan G. Holland-Cunz and Raphael N. Vuille-dit-Bille
Children 2021, 8(2), 170; https://doi.org/10.3390/children8020170 - 23 Feb 2021
Cited by 18 | Viewed by 11819
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)
Show Figures

Figure 1

Other

Jump to: Research, Review

9 pages, 639 KiB  
Case Report
Hypertriglyceridemia Induced Acute Pancreatitis Caused by a Novel LIPC Gene Variant in a Pediatric Patient
by Laura Balanescu, Ancuta Cardoneanu, Gabriel Stanciu, Radu Balanescu, Cristian Minulescu, Daniela Pacurar and Andreea Moga
Children 2022, 9(2), 188; https://doi.org/10.3390/children9020188 - 2 Feb 2022
Cited by 1 | Viewed by 2023
Abstract
Hypertriglyceridemia induced acute pancreatitis is a rare cause of pancreatitis in children. Hepatic lipase deficiency is an extremely rare cause of hypertriglyceridemia, reported in only a few families to date. Hepatic lipase is the enzyme involved in the hydrolysis of triglycerides and phospholipids [...] Read more.
Hypertriglyceridemia induced acute pancreatitis is a rare cause of pancreatitis in children. Hepatic lipase deficiency is an extremely rare cause of hypertriglyceridemia, reported in only a few families to date. Hepatic lipase is the enzyme involved in the hydrolysis of triglycerides and phospholipids in remnants of triglyceride-rich lipoproteins that have a role in the conversion of very low density lipoprotein remnants to low density lipoproteins. Hepatic lipase deficiency is inherited in an autosomal recessive pattern. Detection of heterozygous carriers of hepatic lipase mutations remains accidental at the population level, as affected persons with a heterozygous state of hepatic lipase mutation do not display specific lipoprotein abnormalities and also patients with complete hepatic lipase deficiency have inconstant phenotype. The proximal promoter of the LIPC gene consists of four polymorphic sites in complete linkage disequilibrium. Five missense mutations in encoding exons have been described and proved to be responsible for hepatic lipase deficiency to date: S267F, T383M, L334F, A174T, and R186H, affecting the activity and secretion of hepatic lipase. We identified a primary disorder of the lipid metabolism as the cause of the acute episode of pancreatitis in a four years old patient, consisting of hepatic lipase deficiency caused by a novel genetic variant of the LIPC gene, a gross deletion of the genomic region encompassing exon 1. This variant was not previously described in the literature in persons with LIPC-related disorders and its significance is currently uncertain, but in the presented clinical and paraclinical context, it has the characteristics of a pathological variant inducing a hepatic lipase deficiency phenotype. Full article
(This article belongs to the Special Issue Rare Disease and Recent Advances in Neonatal and Pediatric Surgery)
Show Figures

Figure 1

Back to TopTop