Use of Inverted Fluoroscope`s C-arm During Endoscopic Treatment of Urinary Tract Obstruction in Pregnancy: A Practicable Solution to Cut Radiation

OBJECTIVES To describe the use of pulsed fluoroscopic guidance, to perform endoscopic procedures in pregnant women, by inverting the fluoroscope`s c-arm using a lead thyroid collar to shield the fetus from the direct X-ray beam. The use of radiation during treatment of pregnant patients with urolithiasis remains a recurring dilemma. METHODS Between May 2006 and December 2008, endoscopic treatment due to ureteral stones was attempted in 8 pregnant women. In all cases, we use an inverted fluoroscope`s c-arm during endoscopic treatment associated with 2 lead neck thyroid collars to shield the uterus, protecting the fetus from direct radiation. Indication for treatment was symptomatic ureteral stones unresponsive to medical treatment in 7 and persistent fever in 1. RESULTS Mean ureteral stone size was 8.1 +/- 4.8 mm, located in the left ureter in 5 (62.5%) cases. Three (37.5%) patients had stone located in the upper ureter, 2 (25%) in the middle ureter, and 3 (37.5) in the distal ureter. In 6 cases, ureteral stones were treated using the semi-rigid ureteroscope, whereas in 1 case a flexible ureteroscope was needed. One woman was treated with insertion of a double-J stent due to associated urinary infection. No women has early delivery related to the endoscopic procedure, and all neonates were perfectly normal. CONCLUSIONS We present a technique for endoscopic procedures in pregnant women inverting the fluoroscope`s c-arm and protecting the fetus from the direct X-ray beam. This practical approach should be specially considered when no portable ultrasound and radiologic assistance in available in the operating room. UROLOGY 75: 1505-1508, 2010. (c) 2010 Published by Elsevier Inc.

Transillumination-guided Study of the Endoscopic Anatomy of the Lacrimal Fossa

Dacryocystorhinostomy is the treatment of choice for the obstruction of the lachrymal apparatus. At the end of last century, the development of the endoscopic instruments for nasosinusal surgery has made it possible to do it through the endoscopic pathway. Nonetheless, anatomical variations make it difficult to have reproducibility endonasaly. Aim: study the endoscopic anatomy of the lachrymal fossa through transillumination of the common canaliculus. Study design: experimental. Materials and Methods: we dissected 40 lachrymal pathways from 20 human cadavers, in three stages: 1. identification and dilation of the lachrymal canaliculus. 2 Optic fiber beam introduction; 3 - endoscopic dissection of the lachrymal sac, describing its position. Results: the most frequent position of the lachrymal sac was between the free border of the middle turbinate and its insertion immediately underneath it. The maxillary line was seen in 95% of the cases. Septoplasty was needed in 12.5%, unicifectomy in 35% and middle turbinectomy in 7.5%. Conclusion: Although the lachrymal sac has a more frequent location, its position varied considerably. The transillumination of the common canaliculus proved useful, solving the problem of the anatomical variability.

Apolipoprotein E genotype and Cognition in Bipolar Disorder

Apolipoprotein E (APOE) has been extensively studied as a risk factor for sporadic and late onset Alzheimer`s Disease (AD). APOE allele *3, the most frequent variant, is not associated to cognitive dysfunction (CD) or to increased AD risk. Differently, the *4 allele is a well-established risk factor for CD, while the *2 allele is associated with survival and longevity. CD is an important feature of Bipolar Disorder (BD) and recent data suggest that CD may be one of its endophenotypes, although controversial results exist. The aim of this research is to study the association of APOE genotype (APOE) and neurocognitive function in a sample of drug free young BD-type I patients. Sample consisted of 25 symptomatic BD (type I) patients (age 18-35 years old). They were submitted to an extensive neuropsychological evaluation and genotyped for APOE. Subjects with allele *2 presented better cognitive performance. The presence of allele *4 was associated with worse performance in a few executive tasks. APOE *3*3 was associated with overall severe dysfunction on cognitive performance. In young individuals with nontreated BD-type I, APOE may predict cognitive performance. Further and larger studies on APOE and cognition in BD are required to clarify whether APOE is a BD cognitive endophenotype.

Vitamin D Receptor and Calcium-Sensing Receptor Gene Polymorphisms in Hypercalciuric Stone-Forming Patients

Background/Aim: Some studies have identified an association of kidney stone formation with vitamin D receptor (VDR) or calcium-sensing receptor (CaSR) polymorphisms. We aimed to evaluate the association between these polymorphisms with urinary calcium excretion (uCa) in calcium-stone-forming patients. Methods: VDR polymorphism, detected by BsmI digestion, and 3 CaSR polymorphisms (G/T at codon 986, G/A at codon 990 and C/G at codon 1011), detected by direct sequencing, were evaluated in 100 hypercalciuric (HCa) and 101 normocalciuric (NCa) calcium-stone-forming patients. Results: The total allelic frequency of VDR polymorphism was: 16% BB, 49% Bb and 35% bb. The prevalence of bb genotype was significantly higher in the HCa when compared to the NCa group (43 vs. 27%). With respect to CaSR polymorphisms, 986S, 990G and 1011E variant alleles were detected, respectively, in 5, 4 and 3% of the whole sample and 5 CaSR haplotypes were identified: 94% ARQ (wildtype), 3% SRQ, 1.5% AGQ, 1.0% ARE and 0.5% AGE. No statistical differences have been observed between NCa and HCa with respect to these CaSR haplotypes. Conclusions: The present study suggested that bb homozygous for VDR polymorphism was overrepresented in hypercalciuric stone formers. Urinary calcium excretion was not associated with CaSR polymorphism in the present sample. Copyright (C) 2009 S. Karger AG, Basel

Safety Profile of Trocar and Insufflation Needle Access Systems in Laparoscopic Surgery

BACKGROUND: The most common laparoscopic complications are associated with trocar insertion. The purpose of this study was to develop an objective method of evaluating the safety profile of various access devices used in laparoscopic surgery. STUDY DESIGN: In 20 swine, 6 bladed and 2 needle access devices were evaluated. A force profile was determined by measuring the force required to drive the trocar or needle through the fascia and into the peritoneum, at 0 and 10 mmHg. The amount Of tissue deformation, the length of blade exposed, and the duration of exposure were measured using a high-speed digital imaging system. RESULTS: The needle system without the sheath required the least driving force and had the most favorable force profile. In contrast, the bladed, nonretractable trocar system required a higher driving force and a rapid loss of resistance. Insertion under a pneumoperitoneum did not significantly alter the force profile of the various access devices except for the amount of tissue deformation. With the bladed system, the blade itself was exposed for an average of 0.5 to 1.0 seconds for a distance of 4.5 to 5.0 cm. In comparison, the needle system was exposed for 0.2 seconds for a distance of 1.8 cm. CONCLUSIONS: We developed a reproducible method of measuring the forces required to place the access systems, their pattern of resistance loss, and the characteristics of the blade exposure. These parameters may provide an adjunctive and objective measurement of safety, allowing for more direct comparison between various trocar designs. (J Am Coll Surg 2009;209:222-232. (C) 2009 by the American College of Surgeons)

Evaluation of RET polymorphisms in a six-generation family with G533C RET mutation: specific RET variants may modulate age at onset and clinical presentation

P>Context We previously described a six-generation family with G533C RET mutation and medullary thyroid carcinoma, in the largest family reported do date. Of particular interest, phenotype variability regarding the age of onset and clinical presentation of the disease, was observed. Objective We evaluate whether single SNPs within RET oncogene or haplotype comprising the RET variants (defined by Haploview) could predispose to early development of MTC in this family and influence the clinical manifestation. Design Eight SNPs were selected based on their previous association with the clinical course of hereditary or sporadic MTC, in particular promoting an early onset of disease. The variants were initially tested in 77 G533C-carriers and 100 controls using either PCR-direct sequencing or PCR-RFLP. Association between a SNP or haplotype and age at diagnosis or presence of lymph node metastasis was tested in 34 G533C-carries with MTC. Different bioinformatic tools were used to evaluate the potential effects on RNA splicing. Results An association was found between IVS1-126G > T and age at diagnosis. The variant [IVS8 +82A > G; 85-86 insC] was associated with the presence of lymph node metastases at diagnosis. In silico analysis suggested that this variant may induce abnormal splicing. This in silico analysis predicted that the [IVS8 +82A > G; 85-86 insC] could alter the splicing by disrupting and/or creating exonic splicing enhancer motifs. Conclusions We here identified two RET variants that were associated with phenotype variability in G533C-carriers, which highlights the fact that the modifier effect of a variant might depend on the type of mutation.

Prevention of Venous Thrombosis by Warfarin after Permanent Transvenous Leads Implantation in High-Risk Patients

Background: The incidence of venous lesions following transvenous cardiac device implantation is high. Previous implantation of temporary leads ipsilateral to the permanent devices, and a depressed left ventricular ejection fraction have been associated with an increased risk of venous lesions, though the effects of preventive strategies remain controversial. This randomized trial examined the effects of warfarin in the prevention of these complications in high-risk patients. Method: Between February 2004 and September 2007, we studied 101 adults who underwent a first cardiac device implantation, and who had a left ventricular ejection fraction <= 0.40, or a temporary pacing system ipsilateral to the permanent implant, or both. After device implantation, the patients were randomly assigned to warfarin to a target international normalized ratio of 2.0-3.5, or to placebo. Clinical and laboratory evaluations were performed regularly up to 6 months postimplant. Venous lesions were detected at 6 months by digital subtraction venography. Results: Venous obstructions of various degrees were observed in 46 of the 92 patients (50.0%) who underwent venography. The frequency of venous obstructions was 60.4% in the placebo, versus 38.6% in the warfarin group (P = 0.018), corresponding to an absolute risk reduction of 22% (relative risk = 0.63; 95% confidence interval = 0.013-0.42). Conclusions: Warfarin prophylaxis lowered the frequency of venous lesions after transvenous devices implantation in high-risk patients. (PACE 2009; 32:S247-S251)

Gingival juvenile xanthogranuloma in an adult patient: case report with immunohistochemical analysis and literature review

Juvenile xanthogranuloma (JXG) is a non-Langerhans cell histiocytosis (nonLCH). It is a benign and self-healing disorder that generally affects infants and children. Oral lesions in adult patients are rare, although the microscopic findings are similar to those observed in other locations. A 56-year-old white man presented with a chief complaint of a gingival mass that had appeared 6 months before and had grown slowly. An intraoral examination revealed the presence of a solitary, softened gingival mass affecting the mandibular lingual gingiva at the right central incisor area. A biopsy of the lesion showed multiple large macrophages and numerous giant cells of Touton type. The immunohistochemistry positivity for CD68, fascin, factor XIIIa, alpha-antitrypsin and negativity for S-100, beta-actin, CD1a, and desmin confirmed the diagnosis of JXG. The occurrence of adult oral JXG is extremely rare. It is a nonLCH that may present variable clinical and microscopic aspects, which leads to a diversity of clinical misdiagnoses. A precise diagnosis of these lesions requires an accurate evaluation of clinical, microscopic, and immunohistochemical features.

Burkitt Lymphoma in Brazil Is Characterized by Geographically Distinct Clinicopathologic Features

Burkitt lymphoma (BL) is a highly aggressive non-Hodgkin lymphoma with a consistent MYC translocation. Epstein-Barr virus (EBV) has been associated with BL at different frequencies, depending on the clinical variant and geographic regions. This is a large-scale study of BL in Brazil, including 234 patients from 5 geographic regions that are widely disparate socioeconomically, including pediatric (61.1%) and adult (37.6%) populations. EBV was present in 52.6% of all BL cases, varying from 29% (12/42) in the South to 76% (13/17) in the North. Most of the cases were EBV type A. The frequency was higher in the pediatric group, and EBV association within this age range predominated in all regions except the South. Expression of p53 protein was observed inn 16.2%, and only rare cases showed p63 expression. BL in Brazil is regionally distinct and has a low incidence of p53 overexpression and a higher-than-expected association with EBV in sporadic cases.

Association of EGFR c.2073A > T polymorphism with decreased risk of diffusely infiltrating astrocytoma in a Brazilian case-control study

Epidermal growth factor receptor (EGFR) gene overexpression has been implicated in the development of many types of tumors, including glioblastomas, the most frequent diffusely infiltrating astrocytomas. However, little is known about the influence of the polymorphisms of EGFR on EGFR production and/or activity, possibly modulating the susceptibility to astrocytomas. This study aimed to examine the association of two EGFR promoter polymorphisms (c.-191C > A and c.-216G > T) and the c.2073A > T polymorphism located in exon 16 with susceptibility to astrocytomas, EGFR gene expression and survival in a case-control study of 193 astrocytoma patients and 200 cancer-free controls. We found that the variant TT genotype of the EGFR c.2073A > T polymorphism was associated with a significantly decreased risk of astrocytoma when compared with the AA genotype [sex- and age-adjusted odds ratio 0.51, 95% confidence interval 0.26-0.98]. No association of the two promoter EGFR polymorphisms (or combinations of these polymorphisms) and risk of astrocytomas, EGFR expression or survival was found. Our findings suggest that modulation of the EGFR c.2073A > T polymorphism could play a role in future therapeutic approaches to astrocytoma. (Int J Biol Markers 2008; 23: 140-6)

Fabry Disease in Hemodialysis Patients in Southern Brazil: Prevalence Study and Clinical Report

Background. Fabry disease (FD) is a lysosomal storage disorder caused by a deficiency of -Galactosidase A (-Gal A). Fabry nephropathy typically progresses throughout the fifth decade to end-stage renal disease (ESRD), requiring hemodialysis and/or kidney transplantation. Objective. To estimate the prevalence of FD among ESRD males on hemodialysis treatment in Rio Grande do Sul, the southernmost state of Brazil. Methods. Screening for -Gal A activity was performed by a dried blood spot (normal reference value: 1.5 nmoles/hour/mL). Positive screening results were confirmed by plasma -Gal A activity assay (reference value: 3.3 nmoles/hour/mL). Results. Five hundred fifty-eight male patients on hemodialysis were evaluated. Of these, only two had low -Gal A activity and were diagnosed with Fabry disease (0.36%). One of these, age 42, had left ventricular hypertrophy and renal manifestations of Fabry disease without the classic symptoms. The other, age 46, had the classical manifestations of angiokeratomas, acroparesthesias, hypohidrosis, and ocular opacities. Conclusions. Although the prevalence of Fabry disease was very low in our study (0.36%), routine screening of male hemodialysis patients would enable earlier identification of many other affected relatives in their families who might benefit from specific clinical treatment.

Small Bowel Endoscopy Using the Double-Balloon Technique: Four-Year Results in a Tertiary Referral Hospital in Brazil

Background: Double-balloon enteroscopy (DBE) allows evaluation and therapy for various small bowel diseases. In this series the outcome of a 4-year experience in a tertiary hospital school in Brazil is reported. Methods: A total of 457 consecutive DBE were performed in 418 patients from August 2004 to August 2008. 93 patients with several indications, whose aim was not the evaluation of suspected diseases of the small bowel mucosa, were excluded, therefore leaving 364 DBE in 325 patients for analysis. Data were retrospectively collected with regard to clinical, endoscopic findings, therapy and complications. Results: Among the 364 DBE performed in 325 patients, 143/325 were males (44%) and 182/325 females (56%) with a mean age of 48.6 +/- 15.7 years (range 17-89). Mean investigation time was 64 +/- 22 min (range 35-135). The depth of insertion beyond the ligament of Treitz was 230 +/- 85 cm (range 30-500) by the antegrade approach and 140 +/- 75 cm (range 0-320) by the retrograde approach. Total enteroscopy was achieved in 41.66% of the attempts (30 of 72 patients). Overall diagnostic yield was 54.95% (200 of 364 procedures) ranging from 0 to 100% in this series, depending on the indication. Angiodysplasia was the main diagnosis in 24.5% (49 of 200 procedures) and endoscopic treatment, including biopsies, hemostasis, tattooing and polypectomy were performed in 65.38% (238 of 364 procedures). No major complications were reported. Conclusions: DBE is a feasible, safe and well-tolerated procedure allowing endoscopic therapy. Selection of indications increases its diagnostic yield. Copyright (C) 2009 S. Karger AG, Basel

Is Silver Nitrate Pleurodesis for Patients with Malignant Pleural Effusion Feasible and Safe When Performed in an Outpatient Setting?

The purpose of this study was to analyze the effectiveness and safety of silver nitrate pleurodesis (SNP) in patients with recurrent malignant pleural effusion (RMPE) when performed in an outpatient setting. Prospective study including patients with RMPE recruited in a tertiary university-based hospital from February 2008 to June 2009. Elected patients underwent pleural catheter insertion (Day 1) followed by 0.5% SNP (Day 2), and on 7th day the drain was removed. All procedures were performed in an outpatient facility. Pleurodesis was considered successful when no additional pleural procedure was necessary by the 30th day. Complications were registered and graded according to the CTCAE3.0. Quality of life was evaluated before and 30 days after SNP. A total of 68 patients (54 female, 14 male, mean age: 57.3 years) were included. In addition, 7 had bilateral pleural effusions; therefore, 75 hemithoraces were drained. Also, 5 were excluded, and 70 hemithoraces (63 patients) underwent SNP. During the period of 30 days postpleurodesis, 8 deaths not related to the procedure occurred, and we lost contact with 10 patients who were followed elsewhere. At the 30th day, 48 hemithoraces (45 patients) were reevaluated, and 2 recurrences observed. The most frequent complication was pain-graded as 3 or more in 7 patients; infection occurred in 2 patients. Physical and environmental aspects of quality of life improved significantly after pleurodesis. In this study, SNP could be performed safely in an outpatient setting, with pain the most frequent complication. Recurrences occurred in 4% of the patients.

NEW COUPLING SYSTEM FOR INTERFERENCE SCREWS: BIOMECHANICAL RESISTANCE TO TORSION

Objective: To introduce a new coupling system between screw driver and interference screw, and biomechanical tests that validate the safety of its application. Methods: The new system was submitted to biomechanical torsion assays. Two types of analysis were performed: maximum torque of manual insertion of the screws into bovine bone; destructive assays of torsion of the system using an INSTRON 55MT machine. The same tests were also performed on a control group, using a commercially available interference screw coupling system (Acufex (R)). Results: In the tests on manual insertion of screws in bovine femurs, the average values found with a digital torque meter were 1.958 N/m for Acufex (R) and 2.563 N/m for FMRP. Considering p>0.05, there were no statistical differences between the two groups (p=0.02) in the values for maximum torque of insertion, in the two systems studied. The average values for maximum torque of torsion resisted by the screw were 15N/m for the Acufex (R) screw and 13N/m for the FMRP screw, again with no statistical differences between the two groups (p>0.05). In the evaluation of angular deformation, there was also no significant difference between the two screw types (p=0.15). Conclusion: The new coupling system for interference screws developed at FMRP-USP revealed a torsion resistance that is comparable with the system already available on the market and regulated for international use.

A catecholamine transporter from the human parasite Schistosoma mansoni with low affinity for psychostimulants

The trematode Schistosoma mansoni is the primary cause of schistosomiasis, a devastating neglected tropical disease that affects 200 million individuals. Identifying novel therapeutic targets for the treatment of schistosomiasis is therefore of great public interest. The catecholamines norepinephrine (NE) and dopamine (DA) are essential for the survival of the parasite as they cause muscular relaxation and a lengthening in the parasite and thereby control movement. Here we characterize a novel dopamine/norepinephrine transporter (SmDAT) gene transcript, from S. mansoni. The SmDAT is expressed in the adult form and in the sporocyst form (infected snails) of the parasite, and also in the egg and miracidium stage. It is absent in the cercariae stage but curiously a transcript missing the exon encoding transmembrane domain 8 was identified in this stage. Heterologous expression of the cDNA in mammalian cells resulted in saturable, dopamine transport activity with an apparent affinity for dopamine comparable to that of the human dopamine transporter. Efflux experiments reveal notably higher substrate selectivity compared with its mammalian counterparts as amphetamine is a much less potent efflux elicitor against SmDAT compared to the human DAT. Pharmacological characterization of the SmDAT revealed that most human DAT inhibitors including psychostimulants such as cocaine were significantly less potent in inhibiting SmDAT. Like DATs from other simpler organisms the pharmacology for SmDAT was more similar to the human norepinephrine transporter. We were not able to identify other dopamine transporting carriers within the completed parasite genome and we hypothesize that the SmDAT is the only catecholamine transporter in the parasite and could be responsible for not only clearing DA but also NE. (C) 2011 Elsevier B.V. All rights reserved.