Erythrocyte adenylate kinase deficiency: characterization of recombinant mutant forms and relationship with nonspherocytic hemolytic anemia.

Objective: Red cell adenylate kinase (AK) deficiency is a rare hereditary erythroenzymopathy associated with moderate to severe nonspherocytic hemolytic anemia and, in some cases, with mental retardation and psychomotor impairment. To date, diagnosis of AK deficiency depends upon demonstration of low enzyme activity in red blood cells and detection of mutations in AK1 gene. To investigate the molecular bases of the AK deficiency, we characterized five variants of AK1 isoenzyme-bearing mutations (118G>A, 190G>A, 382C>T, 418-420del, and 491A>G) found in AK-deficient patients with chronic hemolytic anemia.

Spectrum of visual disorders in children with cerebral visual impairment.

Cerebral visual impairment is a visual function deficit caused by damage to the retrogeniculate visual pathways in the absence of any major ocular disease. It is the main visual deficit in children in the developed world. Preperinatal hypoxic-ischemic damage is the most frequent cause of cerebral visual impairment, but the etiology is variable.

Reduced likelihood of metastases in patients with microsatellite-unstable colorectal cancer.

Purpose: The outcome of patients with colorectal cancer is more favorable when the tumor exhibits high-frequency microsatellite instability (MSI). Although associated with earlier-stage tumors, MSI has been proposed as an independent predictor of survival. We tested the prognostic value of MSI in a large series of patients diagnosed with colorectal cancer in the last decade.

Leber's congenital amaurosis: is there an autistic component?

There is much evidence in the literature suggesting that children with congenital blindness can also present autistic like features. The aetiopathogenetic and clinical significance of this association is still unclear. Given the central role played by vision in development, we set out to establish the significance of autistic-like behaviours in children with early-onset severe visual impairment.

[The surgical and endovascular treatment of the hepatic artery aneurysms: personal experience].

Objective: The aim of this single-institution retrospective study is to report the results of surgical and endovascular treatment of hepatic artery aneurysms.

Materials And Methods: Twenty patients with an extraparenchimal hepatic artery aneurysm made part of the study In the first period, between February 1980 and December 1996, 12 patients were admitted and treated surgically. In the second period, January 1997 until December 2005, 8 patients were admitted.

Inflammatory abdominal aortic aneurysms. A 20-year experience.

Aim: The aim of the study was to report a 20-year single Institution experience, with the early and late outcomes of surgical treatment of inflammatory abdominal aortic aneurysms.

Methods: In a 20-year period, 2 275 consecutive patients underwent elective surgical repair for non-rupture abdominal aortic aneurysm. Fifty-two patients (2.

Endovascular treatment of penetrating aortic ulcers: mid-term results.

Objectives: The aim of this study was to evaluate mid-term results of endovascular treatment of penetrating aortic ulcers.

Methods: Between February 2000 and November 2006, 18 consecutive patients underwent endovascular treatment of the descending thoracic aorta (N=16) and abdominal infrarenal aorta (N=2) for penetrating aortic ulcer, in a single University Hospital. Data were prospectively collected and retrospectively analyzed.

New insights on receptor-dependent and monoamine oxidase-dependent effects of serotonin in the heart.

Biogenic amines like serotonin (5-HT) and catecholamines usually act through stimulation of G-protein coupled receptors (GPCRs). We now have strong evidence that they can signal through receptor-independent mechanisms. One well described pathway is the degradation of biogenic amine by monoamine oxidases (MAOs) after transport into the cells by selective transporters.

Pyruvate kinase deficiency: the genotype-phenotype association.

Red cell pyruvate kinase (PK) deficiency is the most frequent enzyme abnormality of glycolysis causing chronic non-spherocytic haemolytic anaemia. The disease is transmitted as an autosomal recessive trait, clinical symptoms usually occurring in compound heterozygotes for two mutant alleles and in homozygotes. The severity of haemolysis is highly variable, ranging from very mild or fully compensated forms to life-threatening neonatal anaemia necessitating exchange transfusions.

Carotid endarterectomy in patients with contralateral carotid artery occlusion.

The aim of this study was to evaluate the 30-day outcome of carotid endarterectomy in patients with contralateral carotid artery occlusion and compare it to that in patients with patent contralateral carotid artery. We compared 2,959 carotid endarterectomies performed in patients with patent contralateral internal carotid artery to 373 carotid endarterectomies performed in patients with occlusion of the contralateral carotid artery in the same institute between 1988 and 2004. Patient demographics, surgical and anesthesiological strategy, perioperative neurological and cardiac events, and deaths were compared.

Laparoscopic lymphatic mapping and sentinel lymph node detection in colon cancer: technical aspects and preliminary results.

Background: The utility of lymph node mapping to improve staging in colon cancer is under evaluation. Laparoscopic colectomy for colon cancer has been validated in multicentric trials. This study assessed the feasibility of lymph node mapping in laparoscopic colectomy for colon cancer.

Contrast-enhanced intraoperative ultrasonography during surgery for hepatocellular carcinoma in liver cirrhosis: is it useful or useless? A prospective cohort study of our experience.

Background: Preliminary results showed that contrast-enhanced intraoperative ultrasonography (CEIOUS) could provide information not obtainable with conventional IOUS during surgery for hepatocellular carcinoma (HCC). The aim of the study was to prospectively validate the role of CEIOUS on the basis of a larger experience and to establish a new classification that takes into account its findings.

Methods: Eighty-seven consecutive patients underwent hepatecomies for HCC.

Influence of ovariectomy in the right ventricular contractility in heart failure rats.

Background: Clinical studies in postmenopausal women suggest that female hormones play an important role in maintaining healthy cardiovascular conditions. The objective of this study was to evaluate the influence of ovarian hormones in the right ventricle contractility in heart failure (HF) rats following myocardial infarction (MI).

Methods: Female Wistar rats were divided into four groups: healthy ovariectomized (OVX), ovariectomized with HF (OVX-HF), HF, and sham operated (SHAM).

Retrograde aorto-mesenteric by-pass grafting as treatment option of recurrent chronic mesenteric ischemia after thrombosed superior mesenteric artery stenting. Report of a case.

We report a case of early stent failure in a patient with chronic mesenteric ischemia and its treatment with a retrograde aorto-mesenteric by-pass. The patient was initially treated with angioplasty and stenting. Seven months after the procedure complete thrombosis of the stent was achieved.

Technique of sentinel lymph node biopsy and lymphatic mapping during laparoscopic colon resection for cancer.

Background: The utility of lymph node mapping to improve staging in colon cancer is still under evaluation. Laparoscopic colectomy for colon cancer has been validated in multi-centric trials. This study assessed the feasibility and technical aspects of lymph node mapping in laparoscopic colectomy for colon cancer.

Prenatal diagnosis for a novel homozygous mutation in PKLR gene in an Indian family.

Objective: To provide prenatal diagnosis of pyruvate kinase deficiency by direct DNA analysis in an Indian family.

Materials And Method: This case report describes diagnosis of a novel homozygous mutation in PKLR gene that subsequently helped the family in the next pregnancy.

Results: Advancement in molecular genetics has resulted in the prenatal diagnosis of relatively uncommon genetic disorders like pyruvate kinase deficiency.

Neonatal isolation impairs neurogenesis in the dentate gyrus of the guinea pig.

In the current study we examined the effects of early isolation rearing on cell proliferation, survival and differentiation in the dentate gyrus of the guinea pig. Animals were assigned to either a standard (control) or an isolated environment a few days after birth (P5-P6), taking advantage of the precocious independence from maternal care of the guinea pig. On P14-P17 animals received one daily bromodeoxyuridine injection, to label dividing cells, and were sacrificed either on P18, to evaluate cell proliferation or on P45, to evaluate cell survival and differentiation.

[Laparoscopic surgery of colon cancer. State of art and literature review].

Over the past decade advances in laparoscopic surgery have revolutionized the surgical approach to many diseases. Although the first case series on laparoscopic segmental colectomy in patient with sigmoid cancer was described in 1991, this technique has not been readily accepted. Despite reduced morbidity and improved convalescence after laparoscopic surgery for benign disorders, surgeons have been sceptical about similar advantages of laparoscopic colectomy for cancer.

Use of sodium hypochlorite in peritoneal dialysis: the genesis of the 'Y' set and beyond.

The 'Y' set introduced in the clinical practice in the early 80s with the aim of reducing the peritonitis rate in patients on continuous ambulatory peritoneal dialysis, successfully revolutioned the philosophy of the connection system catheter-container of dialysate, which was the main way of bacterial contamination of the peritoneal cavity. In fact, while the previous connection systems had focused the attention on the reduction of the possible contaminating acts, the 'Y' system, taking into account the fact that soon or later a failure could occur even with the most skilled and compliant patient, introduced the possibility to kill the bacteria with a disinfectant and to remove it and the killed bacteria together with the bacteria eventually still surviving, by flushing the contaminated area. This goal was achieved thanks to a 'Y' shaped connector, having a third way connected to the discharge bag/container, besides the two connected to the new bag and to the catheter.

Antisepsis.

All dialysis treatments include a certain risk of infection because of the decreased immune defenses of the patients and because of dialytic techniques that increase the potential of microbial contamination. Peritoneal dialysis, and in particular continuous ambulatory peritoneal dialysis (CAPD), has a higher risk of infections of the peritoneum, but even of the subcutaneous tunnel. These infections are caused by environmental microorganisms principally gram-positives (Staphylococcus epidermidis and Staphylococcus aureus).

Endovascular treatment of ruptured iliac aneurysm previously treated by endovascular means.

A patient with a ruptured iliac aneurysm was admitted to the Emergency Department in hypovolemic shock. He had previously undergone surgical treatment for an infrarenal abdominal aortic aneurysm, which was managed with a terminal-terminal Dacron tube graft. Subsequently, he developed two iliac aneurysms, which were treated endovascularly with two wall-grafts in the right and one wall-graft in the left iliac arteries.

Carotid body tumours. A 20-year single-institution experience.

The aim of this single-institution retrospective study was to review the surgical outcomes of resection of carotid body tumours over the last 20 years in our hospital. From January 1985 to December 2004, 17 patients were admitted to our institution with carotid body tumours. All patients were treated by surgical resection of the tumour.

Stent explantation from an arteriovenous fistula for hemodialysis: a case report.

Percutaneous transluminal angioplasty is the first treatment of a dysfunctional vascular access for hemodialysis. A case of stenting of a native arteriovenous hemodialysis fistula is reported that was treated with a stent placement at the anastomosis level, with explantation of the stent after complete thrombosis of the fistula 48 hours after the procedure. It is preferable to treat arteriovenous fistulas with simple balloon dilatation, avoiding stenting of the fistula, especially in the anastomosis site.

Influence of prostaglandin A2 on Bax, Bcl-2 and PCNA expression in MCF-7 cells.

The effects of 20 microg/mL exogenous prostaglandin A(2) (PGA(2)) were determined on Bax, Bcl-2 and proliferating cell nuclear antigen (PCNA) expression levels in MCF-7 cells. Flow cytometric analysis indicated a pronounced increase in the S phase and a decrease in the G(1) phase, whereas a significant increase in the DNA content preceding the G(0)/G(1) peak was also observed after 48 h of exposure to PGA(2). Confirmation of apoptosis was determined after 12 h, 36 h and 48 h of PGA(2) exposure employing the mitosensor reagent that detects potential changes in the mitochondrial membrane.