Genomic instability in congenital lung malformations in children.

PURPOSE: To study the biological relationship between congenital lung malformations (CLMs) and malignancy. METHODS: Biopsies of 12 CPAMs, 6 intralobar sequestrations and 2 extralobar sequestrations were analyzed through whole-genome sequencing. Blood samples from 10 patients were used to confirm or exclude somatic mosaicism. Putative somatic Single Nucleotide Variants (SNVs) were called for each malformed sample with a Panel of Normals built with control DNA samples extracted from blood. The variants were subsequently confirmed by Sanger sequencing and searched, whenever possible, in the blood samples of patients. RESULTS: All CLMs but one presented a signature of genomic instability by means of multiple clusters of cells with gene mutations. Seven tumor transformation-related SNVs were detected in 6/20 congenital lung malformations. Four very rare in the general population SNVs were found in a region previously linked to lung cancer in 5p15.33, upstream of TERT oncogene. Furthermore, we identified missense genetic variants, whose tumorigenic role is well known, in the RET, FANCA and MET genes. CONCLUSIONS: Genomic instability in 95% of CLMs and genetic variants linked to tumor development in 30% of them, regardless of histopathology, are predisposing factors to malignancy, that combined with exposure to carcinogens, might trigger the development of malignancy and explain the association between CLMs and lung cancer.

Ogilvie syndrome in a 8 year old girl after laparoscopic appendectomy.

BACKGROUND: Ogilvie's syndrome is described in the adult population, but rarely seen in children. CASE PRESENTATION: We present a case of a girl who suffered acute colonic pseudo-obstruction after laparoscopic appendectomy. CONCLUSIONS: Ogilvie's syndrome, although rare in the pediatric population, should be considered as possible diagnosis after a surgical procedure in presence of persisting subocclusive symptoms and radiological signs of massive colonic dilatation without mechanical obstruction.

MRI in Postreduction Evaluation of Developmental Dysplasia of the Hip: Our Experience.

BACKGROUND: Developmental dysplasia of the hip (DDH) is one of the most common congenital defects in the newborn. When its severe form is not corrected, it is associated with long-term morbidity. Closed reduction with casting is the standard primary treatment and reduction is confirmed by magnetic resonance imaging (MRI). We reported our experience on the reliability of MRI in postreduction assessment of DDH. METHODS: All children who underwent closed reduction for Graf type IV DDH at our institution between September 2010 and June 2016 were retrospectively reviewed. Since 2010 we assessed postreduction position of the femoral head by performing a MRI. RESULTS: Twenty-five (5 male, 20 female) patients presented with 29 (15 left sided, 6 right sided, 4 bilateral) Graf type IV DDH and underwent closed reduction at a mean age of 3.4 months. In all patients MRI studies performed within 24 hours were diagnostic, showing a concentric reduction of the femoral head within the acetabulum in 24/25 patients. In the patient with persistent hip instability, a subsequent open reduction was performed. In all the cases, there was no need of any contention or sedation during MRI. CONCLUSIONS: On the basis of our experience, MRI is an excellent, safe and, reliable modality to confirm maintenance of adequate femoral head position and to evaluate soft tissue interposition. We agree that MRI is the gold standard to early depict dislocation after closed reduction of DDH.

Subcutaneous Granuloma Annulare: A Diagnostic Conundrum-Learning From Mistakes.

Subcutaneous granuloma annulare is an inflammatory lesion occurring in otherwise healthy children. We present 3 pediatric patients with different diagnostic-therapeutic paths depending on the ward they were referred to. The lesions regress spontaneously, and medical or surgical treatments are generally not necessary.

The Great Pretender: Pediatric Wandering Spleen: Two Case Reports and Review of the Literature.

Wandering spleen is a rare condition, typically not only due to embryological defects of the splenic ligaments, but also secondary to trauma and splenomegaly. The most common presentation is acute abdomen with a mobile abdominal mass or recurrent abdominal pain. However, the spleen may be temporary in its normal position, and patients could be asymptomatic. A familiarity, if present, strengthens the diagnostic suspect.Abdominal ultrasonography and computed tomography are the examination of choice, and the management is surgical.

Laparoscopic orchiopexy: short-term outcomes. Experience of a single centre.

BACKGROUND: Increased infertility and smaller volume accompany undescended testis. Timing of orchiopexy is still a matter of debate. We evaluated the growth of non-palpable testes after laparoscopic orchiopexy according to age at surgery, intraoperative findings and type of procedure. METHODS: Forty-one boys undergoing laparoscopy for nonpalpable testes were retrospectively reviewed and divided into two groups, ≤18 months and >18 months, according to their age at surgery. RESULTS: At follow-up, 14 testes in the younger group had normal size, while 3 atrophied either after single (2) or two stage procedure (1). Similarly, in older boys 11 testes grew normally, while 5 atrophied after both procedures. CONCLUSIONS: Most of the non-palpable testes grew normally after laparoscopic orchiopexy and the postoperative volume seemed independent from the surgical strategy. Both techniques led to a few cases of testicular hypotrophy. In our experience, the age at surgery did not affect the outcome in terms of testicular growth.

Fainting Starting Parenteral Nutrition.

Complications such as mechanical accidents, infections, and thrombosis are commonly described in the presence of a central venous catheter. We present a case of a boy who had fainting episodes due to dislocation of a central venous catheter.

A girl with labium majus swelling.

Asymmetric vulva swelling during prepubertal period is related to a variety of inflammatory and neoplastic lesions. An 11-year-old girl with childhood asymmetric labium majus enlargement is presented.

European Pediatric Surgeons' Association Survey on Timing of Inguinal Hernia Repair in Premature Infants.

AIM: This article evaluates the practice patterns of European Pediatric Surgeons' Association (EUPSA) members regarding the timing of inguinal hernia (IH) repair in premature infants. METHODS: Online survey containing 29 questions distributed to EUPSA members during January 2023. RESULTS: A total of 180 responds were received. Overall, IH repair prior to discharge was favored by 60% of respondents when there was a history of incarceration and 56% when there was not. In the case of very/extremely premature infants (< 32 weeks) with no history of incarceration, fewer (43%) respondents postpone the surgery until after discharge. The majority of respondents cited the risk of incarceration as the reason for advocating surgery prior to discharge, whereas a reduced risk of apnea was the most cited reason for respondents who prefer delayed surgery. Open approach under general anesthesia was favored by 54% of respondents, with 27% of them preferring open approach with spinal anesthesia. Laparoscopic surgery for premature infants is used in 11% while 7% of them preferred in all premature infants including extremely/very premature ones. Contralateral side evaluation was never done by 40% of respondents and 29% only performed it only during laparoscopic repair. The majority of respondents (77%) indicated that they have an overnight stay policy for premature infants < 45 weeks of gestation. CONCLUSION: There is variation in the practice patterns of pediatric surgeons in the treatment of IH in premature infants. Due to the concern for the high risk of incarceration, IH repair before discharge was the most prevalent practice. Lower risk of postoperative apnea was cited as the most common reason for delaying surgery. Randomized studies are required to establish the optimal timing for IH repair in premature infants.

Quality of life in flexible painful flatfoot treated by anterograde calcaneo-stop procedure: The patient's and family's perspective.

PURPOSE: This study aimed to evaluate the quality of life and satisfaction about the surgical treatment in patients with symptomatic flexible flatfoot. METHODS: The Oxford Ankle Foot Questionnaire for children (one to fill in before the surgical correction and another 6-12 months after the screw's removal), the PedsQLTM Healthcare Satisfaction Generic Module and the PedsQLTM General Well-Being Scale were administered to all patients who underwent the anterograde calcaneo-stop procedure for flexible painful flatfoot between January 2012 and December 2015. RESULTS: One hundred forty patients were sent the questionnaires and 74 (40 male and 34 female) of them responded. The surgical correction was performed at a medium age of 11,84±1,65 years. When the Oxford Ankle Foot Questionnaire for children scores before surgical correction and after the screw removal were compared, the latter scored significantly higher for all domains. Healthcare satisfaction was good in all families. Most of the patients scored medium-high on the PedQLTM General Well-Being both when asked about themselves (mean 86,50±7,44) and in general about their health (76,06±12,32). CONCLUSION: Our results confirmed that flexible painful flatfoot is significantly affecting the quality of life of children and that the anterograde calcaneo-stop procedure is a valuable technique, which improves their quality of life and the family wellbeing.

Congenital lung malformations.

Congenital lung malformations (CLMs) are rare developmental anomalies of the lung, including congenital pulmonary airway malformations (CPAM), bronchopulmonary sequestration, congenital lobar overinflation, bronchogenic cyst and isolated congenital bronchial atresia. CLMs occur in 4 out of 10,000 live births. Postnatal presentation ranges from an asymptomatic infant to respiratory failure. CLMs are typically diagnosed with antenatal ultrasonography and confirmed by chest CT angiography in the first few months of life. Although surgical treatment is the gold standard for symptomatic CLMs, a consensus on asymptomatic cases has not been reached. Resection, either thoracoscopically or through thoracotomy, minimizes the risk of local morbidity, including recurrent infections and pneumothorax, and avoids the risk of malignancies that have been associated with CPAM, bronchopulmonary sequestration and bronchogenic cyst. However, some surgeons suggest expectant management as the incidence of adverse outcomes, including malignancy, remains unknown. In either case, a planned follow-up and a proper transition to adult care are needed. The biological mechanisms through which some CLMs may trigger malignant transformation are under investigation. KRAS has already been confirmed to be somatically mutated in CPAM and other genetic susceptibilities linked to tumour development have been explored. By summarizing current progress in CLM diagnosis, management and molecular understanding we hope to highlight open questions that require urgent attention.