Purpose
To evaluate UDR reliability, sensitivity, specificity and to identify the best treatment basing on UDR among single or double endoscopic injections and ureteral reimplantation.
Methods
Data ...of patients affected by primary VUR and treated by endoscopic injection over a 10 years period were retrospectively analyzed. Two radiologist attributed reflux grade and UDR on voiding cystourethrogram twice and blinded. Follow-up focused on resolution after 1 or 2 endoscopic injections. Relation between UDR, reflux grade and outcomes were analyzed.
Results
Patient enrolled were 198. Low grade VUR was present in 24.8%, grade 3 in 41.6%, grade 4–5 in 33.6%. Resolution after one injection was obtained in 88 patients; among 110 not resolved 104 cases had a second injection. Success after 2 injections was reported in 138 cases. UDR showed a higher reliability compared with reflux grade both in intra than inter-reader measurement (ICC > 90%). Success after 1 or 2 injections was reported for UDR < 0.33 and UDR < 0.47 respectively.
Conclusion
UDR shows to be a more reliable measurement that allows for an objective estimation of VUR severity and prognosis. It represents a quantitative parameter that might be useful to identify patients who may benefit endoscopic or surgical treatment, avoiding unnecessary under or over-treatment.
Burn injuries are distressful and shocking events, which can lead to noteworthy sequelae on metabolic markers and organs. Such traumatic accidents do occur every so often in both adult and pediatric ...populations, requiring prompt and adequate treatments. Notably, scald injuries occur due to direct contact with hot liquids and these are the most common cause of burns in early childhood. Herein, we report on an 18-month-old boy admitted to our pediatric surgery unit for an extensive scald injury, who has experienced an unusual esophageal stricture following the traumatic event.
HSCR is a congenital disorder of the enteric nervous system, characterized by the absence of neurons along a variable length of the gut resulting from loss-of-function RET mutations. Congenital ...Central Hypoventilation Syndrome (CCHS) is a rare neurocristopathy characterized by impaired response to hypercapnia and hypoxemia caused by heterozygous mutations of the PHOX2B gene, mostly polyalanine (polyA) expansions but also missense, nonsense, and frameshift mutations, while polyA contractions are common in the population and believed neutral. HSCR associated CCHS can present in patients carrying PHOX2B mutations. Indeed, RET expression is orchestrated by different transcriptional factors among which PHOX2B, thus suggesting its possible role in HSCR pathogenesis. Following the observation of HSCR patients carrying in frame trinucleotide deletions within the polyalanine stretch in exon 3 (polyA contractions), we have verified the hypothesis that these PHOX2B variants do reduce its transcriptional activity, likely resulting in a down-regulation of RET expression and, consequently, favouring the development of the HSCR phenotype. Using proper reporter constructs, we show here that the in vitro transactivation of the RET promoter by different HSCR-associated PHOX2B polyA variants has resulted significantly lower compared to the effect of PHOX2B wild type protein. In particular, polyA contractions do induce a reduced transactivation of the RET promoter, milder compared to the severe polyA expansions associated with CCHS+HSCR, and correlated with the length of the deleted trait, with a more pronounced effect when contractions are larger.
•PolyA contractions are shown to reduce PHOX2B mediated RET expression in vitro.•Reduced RET promoter transactivation directly correlates with contraction length.•Effects of polyA contractions and expansions are driven by distinct mechanisms.•HSCR-associated PHOX2B alterations may act as disease susceptibility factors.
The association of Hirschsprung disease (HSCR) and Down Syndrome (DS) is not uncommon (HSCR+DS). This paper aims at reporting the results of a 24-year series focusing on surgical approach, ...complications and long term outcome.
The notes of all patients admitted with a diagnosis of HSCR+DS have been retrospectively reviewed. Surgical details, intraoperative complications, long term issues and functional outcome have been recorded. The results have been compared to those of patients without DS and were assessed based on surgical approach.
A total of 23 HSCR+DS out of a series of 385 HSCR (6%) have been included. Preoperative enterocolitis (HAEC) was reported by 32%. Associated anomalies were detected in more than half of the patients. In particular, Congenital Heart Defects (CHDs) were reported by 57%. Postoperative complications (mostly symptomatic anal sphincter achalasia) were experienced by 55%. Constipation was experienced by 30%; severe continence issues, by 53%. One patient suffering from severe CHDs died. With regard to complications, only symptomatic anal achalasia requiring intrasphincteric BoTox injection was significantly more frequent in HSCR+DS (30% vs 10%, p = 0.0071). Similarly, continence proved to be significantly worse in HSCR+DS.
With the exception of symptomatic anal achalasia, HSCR+DS patients proved not to have a higher likelihood of complications compared to HSCR alone. On the other hand, functional results in the long term are worse. As a consequence, long term follow up and personalized rehabilitation programs are warranted for this delicate subset of HSCR patients.
Level III.
Variants in the ACTG2 gene, encoding a protein crucial for correct enteric muscle contraction, have been found in patients affected with chronic intestinal pseudo‐obstruction, either congenital or ...late‐onset visceral myopathy, and megacystis‐microcolon‐intestinal hypoperistalsis syndrome. Here we report about ten pediatric and one adult patients, from nine families, carrying ACTG2 variants: four show novel still unpublished missense variants, including one that is apparently transmitted according to a recessive mode of inheritance. Four of the remaining five probands carry variants affecting arginine residues, that have already been associated with a severe phenotype. A de novo occurrence of the variants could be confirmed in six of these families. Since a genotype–phenotype correlation is affected by extrinsic factors, such as, diagnosis delay, quality of clinical management, and intra‐familial variability, we have undertaken 3D molecular modeling to get further insights into the effects of the variants here described. The present findings and further ACTG2 testing of patients presenting with intestinal pseudo‐obstruction, will improve our understanding of visceral myopathies, including implications in the prognosis and genetic counseling of this set of severe disorders.
Chronic Intestinal Pseudo‐Obstruction (CIPO):
wide phenotypic spectrum of severity
Different ACTG2 variants
AD or AR inheritance
Transmitted or de novo
The learning curve (LC) of a new technique is fundamental for its application and assessment, and for the training. Literature was analysed to define the LCs of different surgical procedures and the ...impact of fellowship programs. MEDLINE, EMBASE and paediatric surgical journals’ databases from January 1995 to December 2018 were systematically analysed. Two independent residents sought for articles providing description of robotic-assisted procedures’ LCs in paediatric age/population. Seventeen articles were selected, describing LC of robotic-assisted pyeloplasty (
n
= 9), fundoplication (
n
= 4), cholecystectomy (
n
= 2), choledochal cyst resection (
n
= 1) and lingual tonsillectomy (
n
= 1), with 721 procedures. Ten studies refer to one single surgeon; six to more than one; one does not specify the number of operators. Eleven studies are unicentric retrospective, two multicentric retrospective, three prospective and one is a comparative analysis between a retrospective case series and a prospective cohort. The most recruited parameter is operative time alone in 3 articles, associated with complications in 12, length of hospital stay in 6, blood loss in 3, resolution in 4 and narcotic use in 2. The LC is described as impacting procedural planning (
n
= 17), training (
n
= 9) and economic costs (
n
= 2). To date, operative time is the most reported outcome to measure LC and proficiency. Efforts are needed to consider measures of surgical expertise and patient status. Robotic training should be standardized on targeted programs planned upon well-defined LCs.
Neurofibromatosis type 1 (NF1) is a neurocutaneous genetic disorder with a broad spectrum of associated signs and symptoms, including skeletal anomalies. The association of NF1 with anterior chest ...wall deformities has been recently reported, especially the pectus excavatum (PE). Over the years, several authors have suggested loss of heterozygosity (LOH) as the possible pathogenic mechanism underlying the development of the typical NF1 skeletal features. Here, we report a NF1 patient with severe chest deformity and harboring the germline heterozygous pathogenic NF1 variant NM_001042492.3: c.4271delC p.(Ala1424Glufs∗4). Through next-generation sequencing (NGS), we investigated the affected cartilage from the PE deformity and identified the additional frameshift variant NM_001042492.3: c.2953delC p.(Gln985Lysfs∗7), occurring as a somatic NF1 second hit mutation. Exome sequencing confirmed the absence of additional variants of potential pathogenic relevance. Western blot analysis showed the absence of wild-type NF1 protein in the cartilage of the patient, consistent with a somatic double inactivation (SDI) of NF1. Taken together, our findings support the role of SDI in NF1-related PE, widening the spectrum of the pathophysiological mechanisms involved in NF1-related skeletal features.
Ectopic Thymus: An Unusual Case of Subglottic Mass Paraboschi, Irene; Fati, Federica; Rizzo, Francesca ...
Annals of otology, rhinology & laryngology,
12/2019, Letnik:
128, Številka:
12
Journal Article
Recenzirano
Objectives:
The aim of our study is to report a case of a child with subglottic thymus that was suspected during diagnostic work-up for severe airway obstruction, excised surgically and confirmed ...with final histopathological examination. Moreover, we performed a narrative literature review to outline clinical and diagnostic features of this rare condition and to report suggestions for the management of subglottic masses.
Methods:
We report the case of a 7-month-old boy who was admitted to our Pediatric Airway Team Unit due to a history of worsening biphasic stridor and recurrent episodes of upper airway obstruction. The successful diagnostic work-up and a narrative literature of analogous cases of subglottic thymus were reported.
Results:
Ectopic thymus is a very rare condition in which thymic tissue is found outside the normal pathway of its embryonic migration. It usually presents as a cystic or, more rarely, solid mass, showing an indolent course toward spontaneous involution. In some cases, however, it becomes symptomatic exerting compression on surrounding vital structures. Due to its rarity, the initial diagnosis is normally mistaken with inflammatory diseases or malignancies and the definitive diagnosis is only achieved after histological examination of the excised specimen. To our knowledge, only four other cases of subglottic ectopic thymic tissue have been reported in the English literature so far and the diagnosis has never been suspected preoperatively.
Conclusion:
It is mandatory to consider ectopic thymic tissue in the differential diagnosis in children presenting with airways obstruction in order to prevent unnecessary, extensive, and exploratory surgery.
Objectives/Hypothesis
Incidence of surgical site infection (SSI) after laryngotracheal (LT) surgery is relatively high, especially in children.
Study Design
Retrospective and prospective cohort ...study.
Methods
Clinical records of children who underwent open LT surgery at the Istituto Giannina Gaslini Children's Hospital from January 2008 to August 2017 were reviewed for development of SSI. Standard antibiotic prophylaxis was administered until February 2015. In March 2015, an antibiotic treatment tailored on pathogens isolated from surveillance cultures and prolonged until extubation was introduced. Incidence and risk factors for SSI before and after the new protocol implementation were analyzed by means of univariate and multivariable analyses.
Results
A total of 57 procedures were analyzed. SSI incidence was 36% in patients receiving standard prophylaxis and 4% in those treated with the new strategy (P = .004), with an absolute benefit increase of 32% (95% confidence interval: 11%–52%), in absence of any difference in clinical conditions between the two groups.
Conclusions
The new management protocol had a highly favorable impact on the development of an SSI.
Level of Evidence
2b Laryngoscope, 129:2634–2639, 2019
PDF
