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Biomedical subjects

M Muggianu

Publications and source records attributed to M Muggianu.

15 recordsLinked to original sources
PubMed2005

Molecular characterization of Italian nevoid basal cell carcinoma syndrome patients.

Mutations in the PTCH gene, the human homolog of the Drosophila patched gene, have been found to lead to the autosomal dominant disorder termed Nevoid Basal Cell Carcinoma Syndrome (NBCCS, also called Gorlin Syndrome). Patients display an array of developmental anomalies and are prone to develop a variety of tumors, with multiple Basal Cell Carcinomas occurring frequently. We provide here the results of molecular testing of a set of Italian Nevoid Basal Cell Carcinoma Syndrome patients. Twelve familial patients belonging to 7 kindreds and 5 unaffected family members, 6 non-familial patients and an additional set of 7 patients with multiple Basal Cell Carcinoma but no other criteria for the disease were examined for mutations in the PTCH gene. All of the Nevoid Basal Cell Carcinoma Syndrome patients were found to carry variants of the PTCH gene. We detected nine novel mutations (1 of which occurring twice): 1 missense mutation (c.1436T>G [p.L479R]), 1 nonsense mutation (c.1138G>T [p.E380X]), 6 frameshift mutations (c.323_324ins2, c.2011_2012dup, c.2535_2536dup, c.2577_2583del, c.3000_3005del, c.3050_3051del), 1 novel splicing variant (c.6552A>T) and 3 mutations that have been previously reported (c.3168+5G>A, c.1526G>T [p.G509V], and c.3499G>A [p.G1167R]). None of the patients with multiple Basal Cell Carcinoma but no other criteria for the syndrome, carried germline coding region mutations.

Adolescent↗
PubMed2004

[Dysplastic cysts of the liver: our experience].

AIM: Systematic surveys with advanced non-invasive imaging techniques have revealed that hepatic cysts are quite common in the general population. Therefore, we retrospectively examined our case series and compared it with the literature. METHODS: Between January 1990 and December 2000, 228 patients with non-parasitic liver cysts were referred to the outpatients section of the Department of Surgery of the University of Cagliari and 23 were submitted to treatment: 14 patients (60.8%) for solitary cyst and 9 (39.2%) for multiple simple cysts of the liver. One patient (4.5%) had right upper quadrant pain. Eleven (47.8%) patients were asymptomatic: 7 (63.7%) required treatment for other pathologies, 3 (27.3%) for a progressive enlargement of the cyst and 1 (9%) for a suspected hydatid disease. Mean diameter of the treated cysts measured by preoperative CT or US was 8.8 cm (range 7-14). Percutaneous aspiration-injection reaspiration (PAIR) was performed in 5 patients (21.7%), US-guided in 2 cases (40%) and CT-guided in 3 (60%). Twenty patients (86.9%) underwent cysts unroofing, 18 (78.2%) with open surgical fenestration and the latest 2 cases with a laparoscopic approach. Two patients had PAIR as second treatment for recurrence: CT-guided in one and US-guided in the other case. RESULTS: Four (25%) out of 16 patients treated exclusively for cystic liver disease, had fever in 3 cases and nausea and vomiting in 1 case; 8 patients (50%) had an intraperitoneal drainage for a mean of 6-7 days (range 4-11) and of 116 cc of serum-hematic liquid. CONCLUSIONS: In our opinion the choice of an adequate treatment must be based on an accurate evaluation of the clinical aspects of the patients and on the characteristics of cystic lesions such as number, size and location. These data let us to choose a surgical treatment rather than a strict US follow-up and to get the best outcome in terms of absence of recurrence, and less biological and economic costs.

Adult↗
PubMed1999

The "parasite" TRAM flap for autogenous tissue breast reconstruction in patients with vertical midabdominal scars.

Abdominal scars play an important role in risk factors in transverse rectus abdominis musculocutaneous (TRAM) flap breast reconstruction. In particular, vertical midline scars are a difficult problem to solve. Traditional techniques include the use of a single hemiflap (which may be insufficient to achieve an adequate volume), the transfer of a double-pedicle flap (which causes major trauma to the abdominal wall), or more complicated procedures such as two free hemiflaps. Since 1991 the authors have used an innovative technique to improve vascularity in the contralateral side of a standard unipedicled TRAM flap. They call this flap the recharged TRAM flap. By means of their technique, the retrograde flow coming from the deep inferior epigastric vessels raised in continuity with a superiorly pedicled flap is used to "recharge" the contralateral rectus muscle harvested as a free flap. On the basis of hemodynamic studies, this procedure was carried out in patients with vertical midabdominal scars. This flap was named the parasite flap because the free unit survives on the vascular source of the pedicled unit-the superior epigastric artery supplying both flaps in a retrograde fashion. Sixteen patients with vertical midabdominal scars underwent this procedure. Total flap survival was observed in 15 patients. One patient developed a partial flap necrosis and 1 patient developed abdominal bulging on the pedicled side. According to the surgeons' evaluation, aesthetic outcome was considered to be good to excellent in all patients.

Abdomen↗
PubMed1992

In vitro antimicrobial effects of fresh split skin, homologous-cultured epithelium and porcine split skin grafts for wound coverage.

Various biological dressings, for example, human fresh and cadaver skin grafts, homologous cultured human epithelium and deep frozen porcine split skin (Lyocutis), have been used to treat skin loss. Each of these biological dressings has its advantages and disadvantages. The antimicrobial properties of each dressing type are important since bactericidal activity influences the lifespan of the transplanted tissue. In the present study the in vitro antimicrobial effects of human fresh skin, homologous cultured epithelium and Lyocutis were compared to in vivo bactericidal activity of these dressings and possible clinical applications are recommended.

Biological Dressings↗
PubMed1992

Reconstruction of the penis in transsexual patients.

In the article, the authors offer a review of the modalities available for phalloplasty in transsexual patients. The classic methods for multi-stage transplantation of tubulized flaps in the lumbar and inguinal regions, in mid-thigh as well as current methods for one-stage reconstruction are discussed. The paper contains the case report of a transsexual patient undergoing one-stage reconstruction of the penis using m. rectus abdominis with the inferior pedicle, urethral reconstruction by a skin graft from simultaneous mastectomy with a free forearm flap covering the muscle. The paper examines the pros and cons of each method for reconstruction.

Adult↗
PubMed1989

Long-term postoperative results in 54 cases of early gastric cancer: the choice of surgical procedure.

Surgical experience on the management of early gastric carcinoma (EGC) related to a series of 54 subjects was observed from 1974 to 1984. Thirty-four patients were male, 20 were female; median age was 61.84 (range 22-79) years. Malignancy always occurred in the middle or distal third of the stomach. A partial subtotal gastrectomy (two-thirds of the stomach) with Roux en Y or Billroth II reconstruction was performed. Omentectomy and lymph node dissection of the primary and secondary groups of nodes, according to General Rules, was always performed. Age-corrected 5- and 10-year survival rates were 95.7% and 84.3%, respectively. Based on their experience, the authors discuss the surgical approach to EGC stressing the need for an accurate lymph node dissection and pointing out that results of subtotal gastrectomy are similar to that reported in the literature for total gastrectomy. The only absolute need for a total gastrectomy may be the presence of an EGC in the proximal third of the stomach. To this end the authors compare their results with 5- and 10-year series from Japanese and western countries reported in the literature.

Adult↗
PubMed1987

[Current status of the classification and clinical staging of primary and secondary tumors of the liver].

Over the past few decades there has been outstanding expansion in the surgical exeresis of primary and metastatic liver tumours and particularly hepatic metastases of colorectal carcinomas. With the advance in surgical technique it becomes increasingly necessary to codify the system for the classification and clinical staging of these conditions for the purposes of correct programming of treatment and assessment of the clinical results obtained. The most commonly used systems of classification and clinical staging are analysed, in particular the classifications proposed by the American Joint Committee on Cancer and D. Manfredi for primary liver tumours and those proposed by Gennari et al and Sugerbaker et al for hepatic metastases of colorectal carcinomas. The selection criteria adopted in each system are analysed as the basis for a more thorough discussion of the problem that is felt to be fundamental for the standardisation of classification and clinical staging systems in the future. Such standardisation is essential for the assessment of the value and limitations of liver surgery in cancer.

Humans↗
PubMed1983

[Validity of distal subtotal gastroresection in the treatment of tumors of the lower 1/3 of the stomach].

The Authors analysed the results of a casuistry of 75 patients subjected to radical subtotal gastroresection for carcinoma of the distal third of stomach, with the purpose to verify the validity of such operation, as compared to the total gastrectomy on principle. The postoperative mortality reached 8% and morbidity 8.7%. The survival after 5 years reached 42%. 85% of the patients, at checkings, resulted in good or excellent conditions (Visik 1-2). On the basis of these data, the Authors conclude the distal subtotal gastric resection should be considered the choice treatment for tumours of the lower third of stomach.

Evaluation Studies as Topic↗
PubMedDate not supplied

[Biliary complications of laparoscopic cholecystectomy: our experience compared with laparotomic cholecystectomy].

Major bile ducts injuries during cholecystectomy were one of the most common complications, but they were becoming rare. With the introduction and the fast diffusion of laparoscopy their incidence has increased. For this reason we have reviewed our experience about open and laparoscopic cholecystectomy. We report 18 patients, 8 male and 10 female with age ranged from 27 to 73 years, with common bile duct injuries. Only three patients (20%) underwent surgery in our Department of Surgery of the University of Cagliari. Of these patients, two were operated on open and one laparoscopic cholecystectomy. They represent 0.08% and 0.36% of the respective groups. The most common cause of this complication is peritonitis (94.5%), followed by bleeding and congenital anomalies of the biliary tree, that were present in 5.5% respectively. The conversion to laparotomy was necessary in 3.9% of our patients, while residual choledocholithiasis in one patient was treated by laparotomic reexploration because of the unsuccessful ERCP. In summary in our opinion the prevention of this complication depends on appropriate indication and choice of the patients, as well as an adequate training. The ERCP, if indicated, must be done before laparoscopic cholecystectomy.

Adult↗