Research

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8 pages, 244 KiB

Open AccessArticle

Eosinophilic Esophagitis in Esophageal Atresia: Is It Really a New Disease?

by Camilla Pagliara, Elisa Zambaiti, Luca M. Antoniello and Piergiorgio Gamba

Children 2022, 9(7), 1032; https://doi.org/10.3390/children9071032 - 11 Jul 2022

Cited by 3 | Viewed by 1122

Eosinophilic esophagitis (EoE) is a chronic, immune-mediated esophageal disease. Symptoms are related to mucosal eosinophilic-predominant inflammation that leads to esophageal dysfunction. Recent data suggest that esophageal atresia (EA) patients may have an increased incidence of EoE compared to the general population. As EoE [...] Read more.

Eosinophilic esophagitis (EoE) is a chronic, immune-mediated esophageal disease. Symptoms are related to mucosal eosinophilic-predominant inflammation that leads to esophageal dysfunction. Recent data suggest that esophageal atresia (EA) patients may have an increased incidence of EoE compared to the general population. As EoE symptoms may be confused with EA-related symptoms, they may significantly worsen morbidity in this specific group of patients. We investigated specific characteristics of patients with AE and EoE compared to those with EoE only. We conducted an observational retrospective monocentric study including all patients diagnosed with EoE from 1 January 2010 to 31 December 2021. For each patient, demographic, clinical and histopathological data were collected and then compared between the two cohorts (EA-EoE vs. EoE only). During the study period, 62 patients were included: 17 children were in the follow-up because of EA (18.1% of 94 EA patients screened in that period), while the other 45 presented EoE only. The demographic and clinical features of EA-EoE patients demonstrate a lower prevalence of allergic subjects (23.5% vs. 80%, p < 0.05), a lower age of presentation (3.1 vs. 12.2 years, p < 0.05), non-specific symptoms and a higher resolution rate with PPI therapy (64.7% vs. 17.8%, p < 0.05) compared to EoE-only patients. Our data confirm that EA patients are at high risk for developing EoE. As symptoms may overlap with the EA spectrum, early recognition of EoE may prevent patients from receiving unnecessary invasive therapeutic interventions and from developing complications from untreated EoE. Full article

(This article belongs to the Special Issue Clinical Advances and Perspectives on Neonatal Surgery)

17 pages, 1321 KiB

Open AccessArticle

Clinical Differentiation between a Normal Anus, Anterior Anus, Congenital Anal Stenosis, and Perineal Fistula: Definitions and Consequences—The ARM-Net Consortium Consensus

by Eva E. Amerstorfer, Eberhard Schmiedeke, Inbal Samuk, Cornelius E. J. Sloots, Iris A. L. M. van Rooij, Ekkehart Jenetzky, Paola Midrio and ARM-Net Consortium

Children 2022, 9(6), 831; https://doi.org/10.3390/children9060831 - 03 Jun 2022

Cited by 9 | Viewed by 8134

Abstract

In the past, an anteriorly located anus was often misdiagnosed and treated as an anorectal malformation (ARM) with a perineal fistula (PF). The paper aims to define the criteria for a normal anus, an anterior anus (AA) as an anatomic variant, and milder [...] Read more.

In the past, an anteriorly located anus was often misdiagnosed and treated as an anorectal malformation (ARM) with a perineal fistula (PF). The paper aims to define the criteria for a normal anus, an anterior anus (AA) as an anatomic variant, and milder types of ARM such as congenital anal stenosis (CAS) and PF. An extensive literature search was performed by a working group of the ARM-Net Consortium concerning the subject “Normal Anus, AA, and mild ARM”. A consensus on definitions, clinical characteristics, diagnostic management, and treatment modalities was established, and a diagnostic algorithm was proposed. The algorithm enables pediatricians, midwives, gynecologists, and surgeons to make a timely correct diagnosis of any abnormally looking anus and initiate further management if needed. Thus, the routine physical inspection of a newborn should include the inspection of the anus and define its position, relation to the external sphincter, and caliber. A correct diagnosis and use of the presented terminology will avoid misclassifications and allow the initiation of correct management. This will provide a reliable comparison of different therapeutic management and outcomes of these patient cohorts in the future. Full article

(This article belongs to the Special Issue Clinical Advances and Perspectives on Neonatal Surgery)

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11 pages, 855 KiB

Open AccessArticle

Global Development of Research on Anorectal Malformations over the Last Five Decades: A Bibliometric Analysis

by Illya Martynov, Xiaoyan Feng, Johannes W. Duess, Jan-Hendrik Gosemann, Martin Lacher and Steffi Mayer

Children 2022, 9(2), 253; https://doi.org/10.3390/children9020253 - 14 Feb 2022

Cited by 4 | Viewed by 3002

Abstract

Purpose: Anorectal malformations (ARM) are one of the most challenging congenital malformations in pediatric surgery. We aimed to assess the research activity on ARM over the last five decades. Methods: Data on original research publications were retrieved from the Web of Science Core [...] Read more.

Purpose: Anorectal malformations (ARM) are one of the most challenging congenital malformations in pediatric surgery. We aimed to assess the research activity on ARM over the last five decades. Methods: Data on original research publications were retrieved from the Web of Science Core Collection (1970–2020), and analyzed for countries, authors, scientific journals, and top-ten papers. Scientific quantity was assessed by the number of publications. Research quality was estimated from the number of citations, average citation rate per item (ACI), and h-index. Results: A total number of 1595 articles with 19,419 citations (ACI = 12.2; h-index = 54) were identified. The annual number of publications and citations significantly increased over time (p < 0.0001). The USA (n = 386; 24.2%), Japan (n = 153; 9.6%), and China (n = 137; 8.6%) were the most productive countries; and the USA (n = 7850; ACI = 20.3; h-index = 44), Japan (n = 1937; ACI = 12.6; h-index = 21), and the Netherlands (n = 1318; ACI = 17.3; h-index = 22) were the top cited countries. Articles were preferentially published in JPS (n = 391; 24.5%), PSI (n = 181; 11.3%), and EJPS (n = 56; 3.5%). Top-ten cited papers focused on classification (n = 1), surgical technique (n = 3), associated syndromes (n = 2), postoperative outcome (n = 3), and basic research (n = 1). Conclusion: This bibliometric study provides valuable insights into the global development of ARM research, and shows that clinical studies and international collaborations dominate in this field. Full article

(This article belongs to the Special Issue Clinical Advances and Perspectives on Neonatal Surgery)

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6 pages, 226 KiB

Open AccessArticle

The Survivorship Bias in Congenital Diaphragmatic Hernia

by Emrah Aydin, Nilhan Torlak, Beth Haberman, Foong-Yen Lim and Jose L. Peiro

Children 2022, 9(2), 218; https://doi.org/10.3390/children9020218 - 06 Feb 2022

Cited by 1 | Viewed by 1699

Abstract

Current literature for congenital diaphragmatic hernia (CDH) focuses on the comparison of the overall mortality in CDH patients. Only a few studies concentrate on analyzing the unstable patients who could not achieve surgical repair, as well as those who could but did not [...] Read more.

Current literature for congenital diaphragmatic hernia (CDH) focuses on the comparison of the overall mortality in CDH patients. Only a few studies concentrate on analyzing the unstable patients who could not achieve surgical repair, as well as those who could but did not survive after. Hence, this study aimed to analyze the effects of various parameters on the timing of death. A retrospective analysis was performed by using the data of all CDH patients from 2003 to 2016 at a single tertiary center. Patients who were diagnosed with left-sided CDH and expired were included in the study regardless of the cause. Of the 66 expired patients, 5 were excluded due to right-sided CDH. The study population constituted a total of 61 patients, of which 31 patients expired prior to CDH repair, and 30 patients expired at different times after CDH repair. Multinomial regression analysis identified that the ECMO need (B = 20.257, p = 0.000, OR: 62.756, 95% CI 10.600–371.384) and O/E LHR (B = 20.376, p = 0.000, OR: 70.663, 95% CI 48.716–102.415) values were the independent predictors that influenced mortality in this cohort. Prenatal pulmonary measurements are the major predictors determining the severity of the disease in patients with CDH. Full article

(This article belongs to the Special Issue Clinical Advances and Perspectives on Neonatal Surgery)

9 pages, 1195 KiB

Open AccessArticle

Diagnostic Efficacy of Rectal Suction Biopsy with Regard to Weight in Children Investigated for Hirschsprung’s Disease

by Emma Fransson, Christina Granéli, Kristine Hagelsteen, Louise Tofft, Mette Hambraeus, Rodrigo Urdar Munoz Mitev, David Gisselsson and Pernilla Stenström

Children 2022, 9(2), 124; https://doi.org/10.3390/children9020124 - 18 Jan 2022

Cited by 4 | Viewed by 1751

Abstract

Background/aim: Diagnostic efficacy, defined as the percentage of rectal suction biopsy (RSB) specimens sufficient enough to determine the absence of ganglia cells in Hirschsprung’s disease (HD) diagnosis, has been reported to be low, requiring repeated biopsies. The aim was to explore whether RSB [...] Read more.

Background/aim: Diagnostic efficacy, defined as the percentage of rectal suction biopsy (RSB) specimens sufficient enough to determine the absence of ganglia cells in Hirschsprung’s disease (HD) diagnosis, has been reported to be low, requiring repeated biopsies. The aim was to explore whether RSB diagnostic efficacy was influenced by the child’s weight and to ascertain whether RSB efficacy differed between aganglionic and ganglionic tissue. Materials and Methods: Efficacy analyses were conducted in a national HD-center’s register on children 0–15 kg, examined between 2011–2019. First-time RSB diagnostic efficacy was correlated to the children’s weight and final HD diagnosis. Results: Among the 84 children who had first-time RSB, the overall diagnostic efficacy was 85% (71/84). The efficacy was higher among children weighing less than the identified cut-off of 9.0 kg (89% in 0–9.0 kg versus 62% in 9.01–15.0 kg, p = 0.026). Among children diagnosed with HD, 96% (26/27) weighed 0–9.0 kg. In this weight group, the diagnostic efficacy was lower in aganglionosis compared to ganglionosis (77%; 20/26 versus 96%; 43/45), p = 0.045). Conclusions: The RSB diagnostic efficacy was significantly higher in children weighing less than 9.0 kg and was less in aganglionic compared to ganglionic tissue. Therefore, weight can be useful to predict RSB diagnostic efficacy. Full article

(This article belongs to the Special Issue Clinical Advances and Perspectives on Neonatal Surgery)

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9 pages, 618 KiB

Open AccessArticle

Santulli Procedure Revisited in Congenital Intestinal Malformations and Postnatal Intestinal Injuries: Preliminary Report of Experience

by Nicolas Vinit, Véronique Rousseau, Aline Broch, Naziha Khen-Dunlop, Taymme Hachem, Olivier Goulet, Sabine Sarnacki and Sylvie Beaudoin

Children 2022, 9(1), 84; https://doi.org/10.3390/children9010084 - 07 Jan 2022

Cited by 4 | Viewed by 2354

Abstract

In our experience, the Santulli procedure (SP) can improve bowel recovery in congenital intestinal malformations, necrotizing enterocolitis (NEC), and bowel perforation. All cases managed at our institution using SP between 2012 and 2017 were included in this study. Forty-one patients underwent SP (median [...] Read more.

In our experience, the Santulli procedure (SP) can improve bowel recovery in congenital intestinal malformations, necrotizing enterocolitis (NEC), and bowel perforation. All cases managed at our institution using SP between 2012 and 2017 were included in this study. Forty-one patients underwent SP (median age: 39 (0–335) days, median weight: 2987 (1400–8100) g) for intestinal atresia (51%, two gastroschisis), NEC (29%), midgut volvulus (10%), Hirschsprung’s disease (5%), or bowel perforation (5%), with at least one intestinal suture below the Santulli in 10% of cases. The SP was performed as a primary procedure (57%) or as a double-ileostomy reversal. Anal-stool passing occurred within a median of 9 (2–36) days for 95% of patients, regardless of the diversion level or the underlying disease. All three patients requiring repeated surgery for Santulli dysfunction had presented with stoma prolapse (p < 0.01). Stoma closure was performed after a median of 45 (14–270) days allowing efficient transit after a median of 2 (1–6) days. After a median follow-up of 2.9 (0.7–7.2) years, two patients died (cardiopathy and brain hemorrhage), full oral intake had been achieved in 90% of patients, and all survivors had normal bowel movement. Whether used as primary or secondary surgery, the SP allows rapid recovery of intestinal motility and function. Full article

(This article belongs to the Special Issue Clinical Advances and Perspectives on Neonatal Surgery)

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Review

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10 pages, 404 KiB

Open AccessReview

Management of Harlequin Ichthyosis: A Brief Review of the Recent Literature

by Maria Tsivilika, Dimitrios Kavvadas, Sofia Karachrysafi, Antonia Sioga and Theodora Papamitsou

Children 2022, 9(6), 893; https://doi.org/10.3390/children9060893 - 15 Jun 2022

Cited by 5 | Viewed by 3488

Abstract

Harlequin ichthyosis (HI) is a life-threatening genetic disorder that largely affects the skin of infants. HI is the most severe form of the autosomal recessive disorder known as ichthyosis. It is caused by mutations in the A12 cassette (lipid-transporter adenosine triphosphate-binding cassette A12 [...] Read more.

Harlequin ichthyosis (HI) is a life-threatening genetic disorder that largely affects the skin of infants. HI is the most severe form of the autosomal recessive disorder known as ichthyosis. It is caused by mutations in the A12 cassette (lipid-transporter adenosine triphosphate-binding cassette A12). Neonates affected by this disease are born with specific morphological characteristics, the most prominent of which is the appearance of platelet keratotic scales separated by erythematous fissures. The facial features include eclabium, ectropion, a distinct flattened nose, and dysplastic ears. A common finding among those with HI is impaired skin barrier function. The purpose of the present narrative review is to assess the most recent literature regarding the management of HI. Emphasis is given to surgical management and consultation, to the indications for timing and surgical intervention, to the risks that are presented with surgery, and to the details of the surgical procedure itself. Management of HI requires a multidisciplinary team of experts, and specific guidelines are needed in order for the risks to be minimized and viability to be increased. Full article

(This article belongs to the Special Issue Clinical Advances and Perspectives on Neonatal Surgery)

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13 pages, 4231 KiB

Open AccessReview

Fetal and Newborn Management of Cloacal Malformations

by Shimon E. Jacobs, Laura Tiusaba, Tamador Al-Shamaileh, Elizaveta Bokova, Teresa L. Russell, Christina P. Ho, Briony K. Varda, Hans G. Pohl, Allison C. Mayhew, Veronica Gomez-Lobo, Christina Feng, Andrea T. Badillo and Marc A. Levitt

Children 2022, 9(6), 888; https://doi.org/10.3390/children9060888 - 14 Jun 2022

Cited by 3 | Viewed by 5778

Abstract

Cloaca is a rare, complex malformation encompassing the genitourinary and anorectal tract of the female in which these tracts fail to separate in utero, resulting in a single perineal orifice. Prenatal sonography detects a few cases with findings such as renal and urinary [...] Read more.

Cloaca is a rare, complex malformation encompassing the genitourinary and anorectal tract of the female in which these tracts fail to separate in utero, resulting in a single perineal orifice. Prenatal sonography detects a few cases with findings such as renal and urinary tract malformations, intraluminal calcifications, dilated bowel, ambiguous genitalia, a cystic pelvic mass, or identification of other associated anomalies prompting further imaging. Multi-disciplinary collaboration between neonatology, pediatric surgery, urology, and gynecology is paramount to achieving safe outcomes. Perinatal evaluation and management may include treatment of cardiopulmonary and renal anomalies, administration of prophylactic antibiotics, ensuring egress of urine and evaluation of hydronephrosis, drainage of a hydrocolpos, and creation of a colostomy for stool diversion. Additional imaging of the spinal cord and sacrum are obtained to plan possible neurosurgical intervention as well as prognostication of future bladder and bowel control. Endoscopic evaluation and cloacagram, followed by primary reconstruction, are performed by a multidisciplinary team outside of the neonatal period. Long-term multidisciplinary follow-up is essential given the increased rates of renal disease, neuropathic bladder, tethered cord syndrome, and stooling issues. Patients and families will also require support through the functional and psychosocial changes in puberty, adolescence, and young adulthood. Full article

(This article belongs to the Special Issue Clinical Advances and Perspectives on Neonatal Surgery)

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