Federica Pederiva

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.

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

Abstract 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.

Lung growth factors in the amniotic fluid of normal pregnancies and with congenital diaphragmatic hernia.

Abstract Aim: Respiratory failure secondary to pulmonary hypoplasia is the main cause of death in congenital diaphragmatic hernia (CDH). Lung growth is regulated by growth factors (GFs), whose imbalances are reported in pathological conditions. We measured amniotic fluid levels of GFs, regulating lung development, in pregnancies with CDH and compared them with normal gestations. Methods: Amniotic fluid was collected at amniocentesis and delivery from 4 women carrying fetuses with CDH and 12 with normal pregnancy. GFs were isolated and quantified. Same GFs were measured in lung biopsies collected during autopsy of three newborns dead of CDH. Results: Impairment expression of lung GFs in the amniotic fluid of CDH pregnancies in comparison with normal was found. Fibroblast growth factor 10 (FGF10), fibroblast growth factor 7, vascular endothelial growth factor and transforming growth factor β (TGFβ) were decreased at amniocentesis, while platelet-derived growth factor (PDGF) increased. While FGF10 and PDGF tended to normalize at delivery, epidermal growth factor increased and TGFβ was still decreased. Same GFs were similarly expressed in both lungs of babies dead of CDH. Conclusion: Anomalies in lung GFs expression of embryos and fetuses with CDH can be detected by measuring their levels in the amniotic fluid during pregnancy. Further investigation would help to correlate prenatal expression of GFs and clinical outcome of babies with CDH after birth.

Perforated appendix with abscess: Immediate or interval appendectomy? Some examples to explain our choice

Highlights • There are no clear guidelines in the treatment of a perforated appendicitis associated with localized abscess.• Our team’s therapeutic choice, also with presence of coprolith, is the initial conservative case management followed by a routine interval appendectomy.• Interval appendectomy should be performed not later than 4 months after discharge.

Outcomes in patients with short bowel syndrome after autologous intestinal reconstruction: Does etiology matter?

BACKGROUND Short bowel syndrome (SBS) is the most common cause of intestinal failure in children. Many factors have been investigated in an attempt to define which parameters influence most survival and ability to wean off parenteral nutrition (PN). The aim of this study was to investigate if aetiology of SBS affects the outcomes in paediatric patients treated with autologous gastrointestinal reconstructive surgery. METHODS All children with SBS who underwent autologous gastrointestinal reconstructive surgery between 2002 and 2012 were retrospectively reviewed and outcome measures were recorded. RESULTS Forty-three patients were divided into 4 groups according to aetiology (gastroschisis, volvulus, necrotizing enterocolitis (NEC), intestinal atresia). No significant differences were found among groups regarding survival and median age at surgery. The volvulus group had a lower pre-operative bowel length in comparison with gastroschisis and intestinal atresia and the lowest percentage of patients off PN (30%). Gastroschisis had the lowest rate of preserved ileocaecal valve (10%), while intestinal atresia had the highest (66%). For children who weaned off PN, intestinal atresia had also the longest time to achieve enteral autonomy (14.5months), while NEC had the shortest (3.5months), followed by gastroschisis (8.5months). None of the patients needed transplant. CONCLUSIONS In our experience it does not appear that diagnosis is significantly related to outcome and this is consistent with the conclusions of other reviews. However, it should be noted that in our series patients with volvulus had the worse outcome in terms of weaning off PN when compared with intestinal atresia. TYPE OF STUDY Retrospective Study. LEVEL OF EVIDENCE II.

Impact of Short Bowel Syndrome on Quality of Life and Family: The Patient's Perspective

Background Short bowel syndrome (SBS) has an impact on children and their families not only physically, but also emotionally, mentally, and socially. This study aimed to evaluate quality of life and family impact in patients with SBS, using the Pediatric Quality of Life Inventory (PedsQL) measurement model. Materials and Methods PedsQL questionnaires were administered to patients with SBS followed at the Pediatric Surgery of Royal Manchester Childrens Hospital. The scores were compared between two groups differing in age (children <5 y vs. >5 y) and with known‐groups from literature published by Varni et al. Results Forty‐three patients were sent the questionnaires, and 30 (70%, 17 < 5 and 13 > 5) responded. Family Impact Module failed to distinguish between families of children younger and older than 5 years of age. In contrast, it distinguished between families with SBS children and the ones with children in a long‐term care facility. Healthcare satisfaction was worse in families of children over 5 years regarding information received, inclusion of the family, and communication. When compared with normal population, SBS children scored worse on Generic Core Scales for all domains except for emotional functioning. Conclusion Although advances have been made on the treatment of children with SBS, and improvements have been reached on home PN, this condition is still significantly affecting the quality of life of children and their families. The future quality control of medical care must have greater focus on psychosocial and emotional functioning, aiming for the best possible quality of life.

Voiceless disability: A worth case of bilateral infrainguinal testicular torsion in a patient with cerebropalsy

Introduction A fast surgical treatment is the gold standard when a testicular torsion is diagnosed. However, an early diagnosis of torsion may not be feasible in case of torsion associated with undescended testis in the patients affected by cerebropalsy. Case presentation A Bolivian 16 year old male with acquired cerebropalsy and spastic neuromuscular disease was admitted to our Institute for a right inguinal swelling observed by the father in the morning. Indeed, the father had reported that the swelling had may be started two days before without pain or any other symptoms apparently. Two episodes of vomiting were only reported. At the general examination the patient, apparently, seemed to laugh repeatedly and a spastic movements increase were observed. The child had an infrainguinal bilateral cryptorchidism. An urgent left infrainguinal orchyectomy had been performed in the past and controlateral cryptorchidism was not corrected. At the right inguinal exploration, a complete twist of the spermatic chord was observed and a right orchyectomy was then performed. Discussion Testicular torsion in the inguinal canal is a rare reported condition that usually can involve patients with spastic neuromuscular disease. Processing, communication and verbalization of a chronic or acute pain seems to be different in a child with or without intellectual disability. It could be a lot more difficult to correct pain interpretation, with an important repercussion on pain accurate assessment and management. Conclusion In the patients with intellectual disability, a control of the testicles, it should always be done, mostly in case of atypical behaviour.

Milky bowel and malrotation.

the duodenojejunal flexure to the right of the midline, in keeping with malrotation. The patient was taken for a laparotomy. Together with chylous ascites, a mesenteric lymphatic obstruction (Fig, A) associated with intestinal malrotation without volvulus was found. Upon performing a Ladd’s procedure, the chylous lymphatics within the cecum dissipated (Fig, B). An inversion appendectomy was also performed. No reaccumulation of ascites was seen, and the patient was discharged home on full enteral feeds after 5 days. Few case reports in the literature describe the association of chylous ascites and malrotation, likely due to volvulus or, in its absence, to the weight of the bowel loops, which increases the lymphatic pressure and contributes to the leakage of chyle into the peritoneum. Once the volvulus is treated operatively or the adhesions are divided, the chylous ascites resolves.

Surgery for distal hypospadias: what about the catheter?

No agreed recommendations exist for timing of urethral stent removal, after distal hypospadias surgery. We compared our preliminary case series with outcomes from literature: 18/44 patients were treated with catheter and 26/44 without it. The surgical outcome was comparable in the two groups. After hypospadias surgery, the main advantage of the immediate postoperative catheter removal was the shorter hospital stay without negatively affecting the care and home management.

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.