Clinical and molecular delineation of the 17q21.31 microdeletion syndrome.

Background: The chromosome 17q21.31 microdeletion syndrome is a novel genomic disorder that has originally been identified using high resolution genome analyses in patients with unexplained mental retardation.

Aim: We report the molecular and/or clinical characterisation of 22 individuals with the 17q21.

Phase II trial evaluating the clinical and biologic effects of bevacizumab in unresectable hepatocellular carcinoma.

Purpose: To determine the clinical and biologic effects of bevacizumab, an anti-vascular endothelial growth factor (VEGF) monoclonal antibody, in unresectable hepatocellular carcinoma (HCC).

Patients And Methods: Adults with organ-confined HCC, Eastern Cooperative Oncology Group performance status of 0 to 2, and compensated liver disease were eligible. Patients received bevacizumab 5 mg/kg (n = 12) or 10 mg/kg (n = 34) every 2 weeks until disease progression or treatment-limiting toxicity.

Construct validity of an objective assessment method for laparoscopic intracorporeal suturing and knot tying.

Background: The ideal objective assessment method for laparoscopic technical skills is difficult to achieve in the operating room. Recent "VR2OR" studies have used a blinded, 2-reviewer error-based video tape analysis for intraoperative performance assessment. This study examines the validity of this methodology applied to laparoscopic intracorporeal suturing and knot tying.

Laparoscopic evaluation of abdominal adhesions with different prosthetic meshes in rabbits.

Background: The use of prosthetic materials to reinforce the abdominal wall is associated with a low index of recurrence; however, intraperitoneal placement of a foreign body may lead to adhesions. The present investigation was designed to determine adhesion formation with commercially available meshes implanted laparoscopically in rabbits.

Methods: Three different meshes were implanted laparoscopically in 24 rabbits: polypropylene (mesh A), polypropylene and sodium hyaluronate-carboxymethylcellulose (mesh B), and polypropylene and expanded polytetrafluoroethylene (mesh C).

Neural-network control of mobile manipulators.

In this paper, a neural network (NN)-based methodology is developed for the motion control of mobile manipulators subject to kinematic constraints. The dynamics of the mobile manipulator is assumed to be completely unknown, and is identified online by the NN estimators. No preliminary learning stage of NN weights is required.

Robust damping control of mobile manipulators.

A novel robust control technique, robust damping control (RDC), is introduced. An RDC controller is further developed for the motion control of a mobile manipulator subject to kinematic constraints. The knowledge of dynamic parameters of the mobile manipulator is assumed to be completely unknown.

Randomized trial of total fundoplication and fundal mobilization with or without division of short gastric vessels: a short-term clinical evaluation.

Purpose: Evaluate short results after fundoplication procedure, concerning the division of short gastric vessels.

Methods: A prospective randomization of 90 patients with indication for hiatoplasty and total fundoplication with fundus mobilization was performed. They were divided into two groups: no SGV division (group A, n= 46) and with SGV division (Group B, n=44), although in both groups the gastric fundus was mobilized to perform a floppy valve.

Deletion 18q21.2q21.32 involving TCF4 in a boy diagnosed by CGH-array.

We report on a 12 year-old boy presenting with severe developmental delay, dysmorphic features, limb anomalies, growth retardation, hypoplastic vermis and corpus callosum. Conventional and high-resolution cytogenetic analyses were normal. CGH-array allowed characterisation of a de novo 6.

Experience of robotic catheter ablation in humans using a novel remotely steerable catheter sheath.

Background: A novel remotely controlled steerable guide catheter has been developed to enable precise manipulation and stable positioning of any eight French (Fr) or smaller electrophysiological catheter within the heart for the purposes of mapping and ablation.

Objective: To report our initial experience using this system for remotely performing catheter ablation in humans.

Methods: Consecutive patients attending for routine ablation were recruited.

Evaluation of the effects of noniodinized and iodinized ionic contrast media and gadoteric acid in acute necrotizing pancreatitis: experimental study in rabbits.

Objective: To evaluate the effects of iodine contrast media and gadoteric acid in acute necrotizing pancreatitis.

Methods: Fifty rabbits were distributed in 5 groups: 10 rabbits were assigned in the control group (group 5) and 40 rabbits were assigned in the pancreatitis group, wherein acute necrotizing pancreatitis was induced through retrograde injection of 5% sodium taurocholate (1 mL/kg weight) in the main pancreatic duct. After 3 hours, they were randomized to receive endovenous iodinized nonionic contrast medium (group 1), iodinized ionic contrast medium (group 2), gadoteric acid (group 3), and physiological serum at 0.

Dissecting the molecular mechanisms in craniofrontonasal syndrome: differential mRNA expression of mutant EFNB1 and the cellular mosaic.

Craniofrontonasal syndrome (CFNS) is an X-linked malformation syndrome with variable phenotype that is caused by mutations in the ephrin-B1 gene (EFNB1). Over 50% of EFNB1 mutations result in premature termination codons that may elicit mRNA degradation by the nonsense-mediated decay pathway. To assess the effects of various mutations at the transcript level, expression of EFNB1 mRNA was studied by RT-PCR in fibroblast cultures established from CFNS female patients.

Transmission of anaplastic large cell lymphoma via organ donation after cardiac death.

Recently, donation after cardiac death (DCD) has been encouraged in order to expand the donor pool. We present a case of anaplastic T-cell lymphoma transmitted to four recipients of solid organ transplants from a DCD donor suspected of having bacterial meningitis. On brain biopsy, the donor was found to have anaplastic central nervous system T-cell lymphoma, and the recipient of the donor's pancreas, liver and kidneys were found to have involvement of T-cell lymphoma.

Experimental model of severe acute pancreatitis in rabbits.

Purpose: To develop an experimental model of severe acute pancreatitis in rabbits through a pancreatic ductal injection of sodium taurocholate.

Methods: Twenty-four albino rabbits of the New Zealand lineage were distributed into four groups of six animals (A, B, C and S). The rabbits of three experimental groups (A, B and C) were submitted to a laparatomy and received a pancreatic ductal injection of 1 ml/kg sodium taurocholate 5%.

Laparoscopic enucleation of pancreatic insulinomas.

Insulinomas are rare endocrine pancreatic tumors whose incidence has been increasing in recent years owing to early detection by clinical and radiologic, such as remote neural monitoring, computed tomography (CT), and ultrasound (US) findings. The classical treatment consists of open surgical resection, which is associated with relative morbidity and mortality rates. The aim of this paper was to present 5 patients who were diagnosed with pancreatic insulinomas that were treated by laparoscopic resection.

Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype-phenotype relationships and overlap with Costello syndrome.

Cardio-facio-cutaneous (CFC) syndrome, Noonan syndrome (NS), and Costello syndrome (CS) are clinically related developmental disorders that have been recently linked to mutations in the RAS/MEK/ERK signalling pathway. This study was a mutation analysis of the KRAS, BRAF, MEK1 and MEK2 genes in a total of 130 patients (40 patients with a clinical diagnosis of CFC, 20 patients without HRAS mutations from the French Costello family support group, and 70 patients with NS without PTPN11 or SOS1 mutations). BRAF mutations were found in 14/40 (35%) patients with CFC and 8/20 (40%) HRAS-negative patients with CS.

Prospective study on the effects of a polypropylene prosthesis on testicular volume and arterial flow in patients undergoing surgical correction for inguinal hernia.

Purpose: To evaluate testicular volume and arterial flow in patients undergoing surgical correction for inguinal hernia, with polypropylene prosthesis.

Methods: This was an observational prospective clinical study on 39 male patients with unilateral inguinal hernia of types III A and III B according to the Nyhus classification who underwent surgical correction with implantation of a polypropylene prosthesis by means of the Lichtenstein technique. The patients were evaluated using Doppler ultrasound before the operation and selectively at the third and sixth months after the operation.

Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A).

We have recently reported a missense mutation in exon 4 of the tubulin alpha 1A (Tuba1a) gene in a hyperactive N-ethyl-N-nitrosourea (ENU) induced mouse mutant with abnormal lamination of the hippocampus. Neuroanatomical similarities between the Tuba1a mutant mouse and mice deficient for Doublecortin (Dcx) and Lis1 genes, and the well-established functional interaction between DCX and microtubules (MTs), led us to hypothesize that mutations in TUBA1A (TUBA3, previous symbol), the human homolog of Tuba1a, might give rise to cortical malformations. This hypothesis was subsequently confirmed by the identification of TUBA1A mutations in two patients with lissencephaly and pachygyria, respectively.

Hardware flexibility of laboratory automation systems: analysis and new flexible automation architectures.

Development of flexible laboratory automation systems has attracted tremendous attention in recent years as biotechnology scientists perform diverse types of protocols and tend to continuously modify them as part of their research. This article is a system level study of hardware flexibility of laboratory automation architectures for high-throughput automation of various sample preparation protocols. Hardware flexibility (system components' adaptability to protocol variations) of automation systems is addressed through the introduction of three main parametric flexibility measures functional, structural, and throughput.

Rapamycin attenuates hypoxia-induced pulmonary vascular remodeling and right ventricular hypertrophy in mice.

Background: Chronic hypoxia induces pulmonary arterial hypertension (PAH). Smooth muscle cell (SMC) proliferation and hypertrophy are important contributors to the remodeling that occurs in chronic hypoxic pulmonary vasculature. We hypothesized that rapamycin (RAPA), a potent cell cycle inhibitor, prevents pulmonary hypertension in chronic hypoxic mice.

A cryopyrin-associated periodic syndrome with joint destruction.

Objective: Describe four generations (11 members) of a family with a cryopyrin-associated periodic syndrome (CAPS), including joint destruction, associated with a CIAS1-gene mutation and good responses to anakinra.

Methods: In addition to detailed questioning and physical examination, six family members underwent haematological, immunological and biochemical testing. Exon 3 of the CIAS1 gene was sequenced in search of a mutation in the 1q44 region.

Evaluation of sequential perfusion with Euro-Collins and Belzer solutions for pancreas preservation in rats.

Objective: To investigate the effect of Euro-Collins and Belzer solutions in a sequential preservation of the pancreas.

Methods: Forty-five Wistar-EPM rats were divided into four groups, according to the solution used during preservation: (1) saline solution (SF): animals perfused and preserved with saline solution; (2) Euro-Collins group (C): animals perfused and preserved with Euro-Collins solution; (3) Belzer group (B): animals perfused and preserved with Belzer solution; (4) Euro-Collins/Belzer group (CB): animals perfused with equal parts of Euro-Collins and Belzer solutions sequentially and preserved with Belzer solution. After perfusion, the animals underwent pancreas resection and preservation with the respective substance at 4 degrees C.

Hypoxic vasoconstriction of partial muscular intra-acinar pulmonary arteries in murine precision cut lung slices.

Background: Acute alveolar hypoxia causes pulmonary vasoconstriction (HPV) which serves to match lung perfusion to ventilation. The underlying mechanisms are not fully resolved yet. The major vascular segment contributing to HPV, the intra-acinar artery, is mostly located in that part of the lung that cannot be selectively reached by the presently available techniques, e.

[Pancreatic insulinomas].

Insulinoma is the most frequent neuroendocrine pancreatic tumor. In the present study, the clinical and immunohistochemical results of 20 patients who underwent surgery between January 1986 and December 2004 were evaluated. Clinical presentation, laboratory data, imaging studies, aspects of the surgical technique, complication rates and medium- and long-term follow-up were analyzed.