Nicola Palasciano

Linkage studies in Italian families with familial adenomatous polyposis

Linkage analysis was performed on 188 subjects belonging to 18 Italian families segregating for familial adenomatous polyposis (FAP) using 7 polymorphic markers (5 restriction fragment length and 2 dinucleotide repeat polymorphisms) mapping in 5q21. A two-point linkage analysis performed with the LINKAGE program gave significant lod scores (> 3) between the Pi227, C11p11, YN5.64, YN5.48 probes and the disease, whereas the ECB27, CB83 and EF5.44 markers showed lower lod scores. Some 11 recombination events were identified from the analysis of 101 meioses. The best map that we could determine confirmed that reported in previous studies. The location of the new marker, CB83, lying between YN5.64 and YN5.48, remains imprecise. No genetic heterogeneity was detected, with all the families showing linkage for at least one of the probes. One 34-year-old individual having an affected haplotype was however classified as healthy after clinical examinations. The results confirm the applicability of the linkage approach for presymptomatic diagnosis of FAP.

Perineal Paget's disease: A rare disorder and review of literature

Introduction Extramammary Pagets disease (EMPD) occurs commonly in perineum, vulva and perineal region and is considered as a complex disorder due to different clinical and histological features. Presentation of case A 61 years old woman had a dermatologic evaluation for anal itch and underwent a skin biopsy with diagnostic of Paget disease in perianal region. Pelvic magnetic resonance showed a huge tumor which involved skin, derma and gluteus and she firstly refused any surgical treatment. One year later, because of increasing of the tumor and bleeding, she underwent the surgical procedure with a complete excision, resection of the skin of the anus, inguinal lymphadenectomy and left colostomy. Because of lymph nodes metastasis, a VLS Miles was sequentially performed. She started oncological follow up that showed liver, lung and pelvic metastasis. She survived for 24 months after surgery. Discussion In literature, less than 200 cases of perineal Pagets disease have been reported. EMPD in some cases has an associated adenocarcinoma, which has been associated with a worse prognosis and high mortality. Wrong diagnosis and a superficial consideration of a benign evolution should be considered as the first mistake in clinical practice. Conclusion Our surgical approach is considered in literature as the best one for those cases, followed by the oncological treatment. Those patients need to be better studied and more attention should be paid to the clinical presentation.

Laparoscopic and Open Surgical Treatment in Gastroduodenal Perforations: Our Experience

Introduction: Peptic ulcer perforation (PPU) is a common surgical emergency and the mortality rate ranges 10% to 40%, especially in elderly patients. Laparoscopic repair achieved encouraging results. Materials and Methods: We enrolled patients performing surgical repair for PPU from January 2007 to December 2015 in our surgical unit. The aim of this retrospective observational study was to compare the results of PPU laparoscopic repair with open technique. The following characteristics of patients were evaluated: age, sex and American Society of Anesthesiologists classification. The site and the diameter of perforation were recorded: gastric, pyloric, duodenal, and the location on the anterior or posterior wall. Results: In total, 59 patients (39 males and 20 females) with a mean age of 58.85 years (±SD) were treated surgically. Laparoscopic repair was accomplished in 21 patients. The mean operative time for laparoscopic repair was 72 minutes (±SD), significantly shorter than open repair time (180 min ±SD). The results demonstrated that laparoscopic repair is associated with a shorter operative time, reduced postoperative pain (4.75 vs. 6.42) and analgesic requirements, a shorter hospital stay (7.5 vs. 13.1), and earlier return to normal daily activities. Discussion: Laparoscopic surgery minimizes postoperative wound pain and encourages early mobilization and return to normal daily activities. The benefit of early discharge and return to work may outweigh the consumable cost incurred in the execution of laparoscopic procedures. Conclusions: Complications in both procedures are similar but laparoscopic procedure shows economic advantages for reducing postoperative hospital stay, postoperative pain, and for a good integrity of abdominal wall.

Adipose-derived stem cells (MYSTEM® EVO Technology) as a treatment for complex transsphincteric anal fistula

High fistula-in-ano is a challenge for coloproctologists. Several surgical procedures to treat these fistulas have been developed in recent decades. Loose (or cutting) seton, fistulotomy, ligation of the intersphincteric fistula tract (LIFT) or fistulectomy with endorectal flap are considered sphincter-preserving techniques, but patients complain about discomfort and the prolonged healing period. Application of fibrin glue is considered a valid technique in selected patients. A new frontier in the treatment of perianal fistulas is the application of adipose tissue-derived stem cells (ADSCs). There are many sources of adult stem cells including the bone marrow, but the discovery of ADSCs paved the way for their large-scale use [1]. They can be easily obtained from adipose tissue with minimally invasive techniques which provide a high percentage of stem cells and very low risk of stem cell damage [2]. ADSCs are multipotent and can differentiate into various cell types, and are characterized by immunosuppressive properties and low immunogenicity. Multipotent mesenchymal stem cells [3] and ADSCs [4–6] have been used for autologous transplantation in the treatment of fistulas in patients with Crohn’s disease over the last few years with good results. This is a sphincter-preserving technique and avoids the risk of fecal incontinence associated with conventional management. We describe our experience with MYSTEM® EVO Technology (MySTEM LLC, Wilmington, DE, USA) in an autologous transplantation of ADSC for closure of a complex transsphincteric fistula. The common procedures for adipose-derived stem cell isolation are mainly based on tissue fractionation and enzymatic digestion, requiring many hours, making it unsuitable for direct surgical applications. Recent studies demonstrated the feasibility of isolating adipose stromal cells without the need for enzymatic digestion. These studies reported the processing of the fluid portion of liposuctioned adipose tissue (lipoaspirate fluid), which contains a significant amount of progenitor cells endowed with plastic and trophic features. In our case, we introduce a brand new closed device, MYSTEM® EVO Technology, which allows nonenzymatic tissue separation and rapid isolation of lipoaspirate fluid from human liposuctioned adipose tissue.