Unexpected Genotype in a Non-Transfusion Dependent Thalassemia Family.

Non-transfusion dependent thalassemia (NTDT) is an inherited hemoglobin disorder characterized by an α/non-α globin chain imbalance of variable severity, resulting in a wide spectrum of clinical manifestations. The coinheritance of additional α genes with a beta-thalassemia heterozygous mutation has a well-known negative effect. Triplication or quadruplication alone are mostly found by chance, but the coinheritance with β mutations can worsen the very mild anemia to a more severe hematological and clinical phenotype causing NTDT, depending on the severity of beta mutations.

Hb Milano [α109(G16)Leu→Pro (CG>CG); : c.329T>C]: A Novel Variant on the α1-Globin Gene in an Italian Family.

Interest in α-globin point mutations has increased in the past few years because nondeletional variations can affect protein function and stability, giving rise to hemoglobin (Hb) variants that present a wide spectrum of phenotypes, from asymptomatic forms to hemolytic anemia. We describe a novel α1-globin gene variant, which we have named Hb Milano [α109(G16)Leu→Pro (CG>CG); : c.329T>C].

Hb Mozhaisk [β92(F8)His→Arg; HBB: c.278A>G] as a De Novo Mutation in a Child of Mixed Ethnic Origins.

Approximately 150 variants described in the HbVar database have been found to be unstable and about 80.0% of these are on the β-globin gene. We describe the case of a 3-year-old child who presented at the emergency room with fever and asthenia.

The expanding spectrum of PRPS1-associated phenotypes: three novel mutations segregating with X-linked hearing loss and mild peripheral neuropathy.

Next-generation sequencing is currently the technology of choice for gene/mutation discovery in genetically-heterogeneous disorders, such as inherited sensorineural hearing loss (HL). Whole-exome sequencing of a single Italian proband affected by non-syndromic HL identified a novel missense variant within the PRPS1 gene (NM_002764.3:c.

A novel mutation within the MIR96 gene causes non-syndromic inherited hearing loss in an Italian family by altering pre-miRNA processing.

The miR-96, miR-182 and miR-183 microRNA (miRNA) family is essential for differentiation and function of the vertebrate inner ear. Recently, point mutations within the seed region of miR-96 were reported in two Spanish families with autosomal dominant non-syndromic sensorineural hearing loss (NSHL) and in a mouse model of NSHL. We screened 882 NSHL patients and 836 normal-hearing Italian controls and identified one putative novel mutation within the miR-96 gene in a family with autosomal dominant NSHL.

Laparoscopic reconstruction after esophageal resection for perforation: a new surgical approach.

The authors present 2 cases of esophageal perforation treated using a new 2-step approach, consisting of esophageal resection and delayed reconstruction of the digestive tract after laparoscopic preparation and transposition of the stomach. The method is characterized by the minimally invasive insertion of a gastric tube through the precardial esophageal stump for postoperative enteral nutrition, and by the use of a laparoscopic method in the reconstruction step for gastrolysis and transposition of the stomach. The benefits lie in the opportunity for enteral feeding preparatory to the reconstruction, with no need for any gastrostomy or jejunostomy, and with fewer complications and a better recovery after reconstruction surgery thanks to the use of a laparoscopic method instead of a laparotomy.

Influence of in vitro exposure to mycotoxin zearalenone and its derivatives on swine sperm quality.

Zearalenone (ZEA) is a fusariotoxin naturally occurring in crops with known estrogenic activity in swine, the most sensitive known species. The metabolism by swine of ZEA, principally into alpha-zearalenol (alpha-ZOL), is considered as a bio-activation because of its high affinity with estrogenic receptors. Discordant data on male reproductive failures induced by ZEA in vivo are described.

Minimally invasive esophagectomy: a comparative study of transhiatal laparoscopic approach versus laparoscopic right transthoracic esophagectomy.

Background: The development of minimally invasive surgery gave birth to an interest in a mini-invasive approach to esophageal cancer; however, it is still considered to be one of the most complex gastrointestinal surgical operations, and many questions still remain unanswered, regarding the oncologic results of a mini-invasive approach in long-term follow-ups. Here, the authors report on the short-term and long-term results of a series of laparoscopic esophagectomies.

Patients And Methods: From January 2002 to March 2006, 22 nonrandomized patients were recruited to undergo an esophagectomy for neoplastic disease.

Postoperative complications linked to pancreaticoduodenectomy. An analysis of pancreatic stump management.

Aims: To analyze the role of different procedures in the management of pancreatic stump according to the incidence of postoperative morbidity derived from the data of a single center surgical population.

Methods: From 1989 to 2005 we performed 76 pancreaticoduodenectomies (PD) and 26 distal pancreatectomies (DP). The surgical reconstruction after PD was as follows: 11 manual non-absorbable stitches closure of the main duct, 24 closures of the main duct with linear stapler, 17 occlusions of the main duct with neoprene glue and 24 duct-to-mucosa anastomosis.

A comparative study of the transhiatal laparoscopic approach versus laparoscopic gastric mobilisation and right open transthoracic esophagectomy for esophageal cancer management.

Aim: Regarding the surgical treatment of esophageal cancer, a question was raised by the introduction of minimally invasive surgery, because of the technical complexity of the techniques involved and its uncertain benefits. We evaluated the impact of laparoscopic esophagectomy on the surgical approach to esophageal cancer.

Patients And Methods: From January 2002 to March 2006, 22 non-randomized patients were recruited to undergo esophagectomy for neoplastic disease.

Superiority of transplantation versus resection for the treatment of small hepatocellular carcinoma.

The best therapy for hepatocellular carcinoma (HCC) is still debated. Hepatic resection (HR) is the treatment of choice for single HCC in Child A patients, whereas liver transplantation (LT) is usually reserved for Child B and C patients with single or multiple nodules. The aim of this study was to compare HR and LT for HCC within the Milan criteria on an intention-to-treat basis.

The role of pancreatic leakage on rising of postoperative complications following pancreatic surgery.

Introduction: The variations in methods of pancreatic stump management and the volume of literature available on both main pancreatic duct and pancreaticoenetric anastomosis leak indicates the concern associated with the leak and the continuing efforts to prevent it. Herein we analyzed the role of pancreatic leakage followed by pancreatic surgery on the incidence of postoperative morbidity.

Patients And Methods: From 1989 to 2005, we performed 76 pancreaticoduodenectomy (PD) and 26 distal pancreatectomy (DP), assumed as control case).

Surgery in hepatic and extrahepatic colorectal metastases.

Extrahepatic disease (EHD) has been considered a contraindication to hepatectomy. Over the last few years, some series reported interesting 5-year survival rates after resection with hepatic colorectal metastases and EHD free margins. Between August 1989 and October 2005, 116 patients underwent liver resection for colorectal metastases at Surgical Department of the University of Udine, Italy.

Superiority of transplantation versus resection for the treatment of small hepatocellular carcinoma.

The best therapy for hepatocellular carcinoma (HCC) is still debated. Hepatic resection (HR) is the treatment of choice for single HCC in Child A patients, whereas liver transplantation (OLT) is usually reserved for Child B and C patients with multiple nodules. The aim of this study was to compare HR and OLT for HCC within the Milan criteria on an intention-to-treat basis.

Comparison of two techniques of arterial anastomosis during adult cadaveric liver transplantation.

Arterial complications are a major source of morbidity and mortality after orthotopic liver transplantation (OLT). The incidence of hepatic artery thrombosis (HAT) ranges from 1.6% to 8%, with a mortality rate that ranges from 11% to 35%.

Intraperitoneal Tenckhoff catheter for the treatment of recurrent lymphoceles after kidney transplantation: our early experience.

Lymphoceles may occur as frequently as 16% of the time after kidney transplantation, becoming clinically evident between 18 and 180 days after surgery. The management of lymphoceles is unclear. Percutaneous needle aspiration and external drainage are associated with high recurrence and complications.

Liver resection for hepatocellular carcinoma: a multivariate analysis of factors associated with improved prognosis. The role of clinical, pathological and surgical related factors.

Aims And Background: Hepatocellular carcinoma (Hcc) is the third most common cause of cancer death. The aim of this study is to examine the factors associated with improved prognosis in Hcc after liver resection.

Patients And Methods: From September 1989 to March 2005, 134 consecutive patients had liver resection for Hcc on cirrhosis at our department.

Liver resection for HCC: analysis of causes and risk factors linked to postoperative complications.

Background/aims: Hepatic resection is widely accepted as the best treatment for localized hepatocellular carcinoma (HCC), even in those patients affected by cirrhosis after a sharp selection. Notwithstanding technical advances and high experience of liver resection of specialized centers, the rate of complication after surgical resection could be high. Herein we analyzed causes and foreseeable risk factors on the grounds of data derived from a single center surgical population.

Analysis of survival after pancreatic resection for oncological pathologies.

Surgical treatment of pancreatic cancer is to date the only modality that offers a chance of long-term survival. Potentially curative surgery is an option for only about 15% of patients with pancreatic adenocarcinoma. The aim of this study was to determine the survival and to assess the association of clinical, pathological, and treatment features with survival of patients who underwent resection of pancreatic cancer at the Department of Surgery of Udine University Hospital.

Resective surgery for liver tumor: a multivariate analysis of causes and risk factors linked to postoperative complications.

Background: In spite of accurate selection of patients eligible for resection, and although advances in surgical techniques and perioperative management have greatly contributed to reducing the rate of perioperative deaths, stress must be placed on reducing the postoperative complication rates reported to be still as high as 50%. This study was designed to analyze the causes and foreseeable risk factors linked to postoperative morbidity on the grounds of data derived from a single-center surgical population.

Methods: From September 1989 to March 2005, 287 consecutive patients, affected either with HCC or liver metastasis, had liver resection at our department.

Liver resective surgery: a multivariate analysis of postoperative outcome and complication.

Introduction: Notwithstanding technical advances and high experience of liver resection of specialized centers, the rate of complications after surgical resection could be high. In this study, we analyzed causes and foreseeable risk factors linked to postoperative morbidity on the ground of data derived from a single center surgical population.

Materials And Methods: From September 1989 to March 2005, 134 consecutive patients had liver resection for Hcc and 153 consecutive patients with liver metastasis (derived from either colorectal cancer or noncolorectal cancer) at our department.

Analysis of clinical outcomes and prognostic factors of neoadjuvant chemoradiotherapy combined with surgery: intraperitoneal versus extraperitoneal rectal cancer.

Neoadjuvant chemoradiotherapy (CRT) is a widely purposed and performed treatment for rectal cancer. Downstaging effects possibly enhance the rate of curative surgery and may enable sphincter preservation in low-lying tumours. The current study examines the clinical outcomes in patients enrolled in a neoadjuvant CRT-surgery protocol for rectal cancer, distinguishing between intraperitoneal and extraperitoneal cancer.