Intestinal rotation anomalies (IRA) involve a spectrum of congenital defects of bowel rotation and fixation arising in the prenatal period. They may predispose to life-threatening conditions such as severe obstruction or midgut volvulus. We present a case of prenatal diagnosis of isolated IRA and discuss the implications on postnatal management. Inversion of mesenteric vessels and colon misplacement in the left abdomen was found at routine 3rd trimester US in a 30 y.o. healthy woman. Prenatal MRI showed colon in the left and small bowel in the right and central abdomen. Postnatal GI contrast study was compatible with intestinal non-rotation with the cecum high in the left abdomen, which was confirmed at surgery. Post-operative course was uneventful. The patient is in good clinical conditions, thriving well, with no reported problems at follow-up. Abnormal bowel rotation may be detected prenatally also in the absence of US signs of congenital anomalies that are typically associated with IRA or related complications. When intestinal malrotation is suspected, prenatal US and fetal MRI may help guiding postnatal management, eventually allowing prompt surgical management to prevent midgut volvulus.
Disruptive 3D technologies, such as reverse engineering (RE) and additive manufacturing (AM), when applied in the medical field enable the development of new methods for personalized and non-invasive treatments. When referring to the monitoring of pectus excavatum, one of the most common thoracic malformations, 3D acquisition of the patient chest proved to be a straightforward method for assessing and measuring chest deformation. Unfortunately, such systems are usually available in a dedicated facility, can be operated only by specialized doctors with the support of engineers and can be used only with patients on site. It is therefore impossible to perform any routine check-up when the patient is unable to reach the outpatient clinic. The COVID19 pandemic situation has placed even greater restrictions on patient mobility, worsening this problem. To deal with this issue, a new low-cost portable optical scanner for monitoring pectus excavatum is proposed in this work. The scanner, named Thor 2.0, allows a remote diagnostic approach, offering the possibility to perform routine check-ups telematically. Usability tests confirmed the user-friendly nature of the devised system. The instrument was used at the Meyer Children’s Hospital (Florence, Italy) chest-malformations center to treat PE patients. The performed measurements proved to be in line with the current state of the art.
Primary cutaneous adenoid-cystic carcinoma (PCACC) is a rare malignant tumour reported in only about 450 cases in the literature, with only two adolescent cases reported. PCACC seems to occur between the fifth and seventh decade of life, and the most frequent regions involved are head and neck (46%). Aplasia cutis congenita (ACC) has an incidence of 1:10,000, and it seems to be rarely associated with neoplastic lesions. Interestingly, the association between PCACC and ACC has, so far, never been described.We report a case of PCACC in the scalp associated with ACC in a four-year-old patient.The patient was under follow-up at the dermatology unit, but suddenly a red lesion appeared within the ACC. This red, ulcerated area increased rapidly over six months, so it was surgically removed, and the pathological examination results were suggestive for cribriform PCACC. According to the guidelines for skin tumours, the patient underwent widening resection, and an advancement-sliding skin flap was performed to recreate the scalp. After one year of follow-up, the patient has no local or widespread recurrence of the PCACC, and the surgical scar appears to have healed well.This clinical case is the first known patient with PCACC associated with ACC. A skin excision biopsy should be performed with wide margins to avoid a second widening resection of skin in a similar scenario. Genetic studies may help to identify the origin of this rare association.
Introduction: Patients with Short Bowel Syndrome (SBS) has alterations in anatomy and physiology that predispose to bacterial overgrowth, leading to gastrointestinal and systemic symptoms and mucosal alteration. Antimicrobial stewardship is the mainstay of therapy, but it remains largely empirical. The aim of the study is to demonstrate changes in the bacterial constituents of microbiome with different antimicrobial therapies. Methods: Stool specimens have been collected from SBS pediatric patients and stored at -20°C until DNA extraction (DNeasy PowerLyzer PowerSoil Kit). To explore changes in the Bacterial and Fungal community in relation to the different phases of antibiotic therapy, targeted metagenomics on the 16S rRNA gene and on the ITS region, respectively, was employed. Specimen also underwent chemical-physical analysis and short chain fatty acids content. Results: The study demonstrate that oral antibiotic therapy influences microbiome composition in its microbic and fungal communities and these changes relate to the length of treatment. The use of cyclical antibiotic stewardship avoids resistant species selection and can contributes to prevent bacterial overgrowth in SBS patients. Conclusions: We recommend the routinely use of faecal microbiome analysis in patients with high risk of dismicrobism to adapt the antibiotic therapy based on the bacterial communities detected.
Management of short bowel syndrome in children has been surrounded by much debate with timing of the lengthening procedure still controversial. Early bowel lengthening procedure (EBLP) has been defined as any bowel lengthening procedure performed before 6 months of age. The purpose of this paper is to report the institutional experience in EBLP and to review the literature on this subject to identify common indications.An institutional retrospective analysis of all the intestinal lengthening procedures was performed. Furthermore, an Ovid/Embase search regarding children who underwent bowel lengthening in the past 38 years was conducted. Primary diagnosis, age at procedure, type of procedure, indication, and outcome were analyzed.Ten EBLP were performed in Manchester from 2006 to 2017. Median age at surgery was 121 days (102-140), preoperative small bowel (SB) length was 30 cm (20-49) while postoperative SB length was 54 cm (40-70), with a median increased bowel length of 80%. Ninety-seven papers were reviewed, with more than 399 lengthening procedures performed. Twenty-nine papers matched criteria with more than 60 EBLP were observed of which 10 were performed in a single center from 2006 to 2017. EBLP was performed due to SB atresia, to excessive bowel dilatation or failure to enteral feeds, at a median age of 60 days (1-90). Serial transverse enteroplasty was the most frequent procedure used lengthening the bowel from 40 cm (29-62.5) to 63 cm (49-85), with a median increased bowel length of 57%.This study confirms that no clear consensus on indication or timing to perform early SB lengthening is reported. According to the gathered data, EBLP should be considered, only in cases of actual necessity after review of qualified intestinal failure center.
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