Defects

Distribution by Scientific Domains
Distribution within Medical Sciences

Kinds of Defects

  • abdominal wall defect
  • anal sphincter defect
  • anatomical defect
  • and neck defect
  • antisite defect
  • apparent defect
  • articular cartilage defect
  • atrial septal defect
  • basic defect
  • behavioral defect
  • birth defect
  • bone defect
  • bony defect
  • brain defect
  • bulk defect
  • calvarial bone defect
  • calvarial defect
  • cardiac conduction defect
  • cardiac defect
  • cardiovascular defect
  • cartilage defect
  • cellular defect
  • chondral defect
  • chromosomal defect
  • circular defect
  • class ii furcation defect
  • coating defect
  • cognitive defect
  • common defect
  • complex defect
  • complex i defect
  • conduction defect
  • congenital cardiac defect
  • congenital defect
  • congenital heart defect
  • congenital ventricular septal defect
  • craniofacial defect
  • critical size defect
  • critical-size defect
  • crystal defect
  • deep defect
  • dehiscence defect
  • dehiscence-type defect
  • detectable defect
  • developmental defect
  • diaphragmatic defect
  • empty defect
  • enamel defect
  • epithelial defect
  • extended defect
  • eye defect
  • facial defect
  • field defect
  • filling defect
  • full-thickness cartilage defect
  • full-thickness defect
  • functional defect
  • furcation defect
  • gene defect
  • genetic defect
  • glaucomatou visual field defect
  • growth defect
  • head and neck defect
  • head defect
  • heart defect
  • hemostatic defect
  • i defect
  • ii furcation defect
  • immune defect
  • imprinting defect
  • infrabony defect
  • inherited defect
  • interface defect
  • intrabony defect
  • intrinsic defect
  • isolated defect
  • large bone defect
  • large defect
  • larger defect
  • lattice defect
  • limb defect
  • limb reduction defect
  • lip defect
  • major defect
  • mandibular defect
  • manufacturing defect
  • marginal defect
  • mass defect
  • maxillary defect
  • midline defect
  • mitochondrial defect
  • molecular defect
  • morphological defect
  • mucosal defect
  • multiple defect
  • muscular ventricular septal defect
  • nasal defect
  • neck defect
  • nerve defect
  • neural tube defect
  • observed defect
  • original defect
  • osseous defect
  • osteochondral defect
  • other defect
  • oxygen defect
  • partial defect
  • perfusion defect
  • peri-implant defect
  • periodontal defect
  • planar defect
  • point defect
  • primary defect
  • profound defect
  • pyramidal defect
  • qualitative defect
  • recession defect
  • reduction defect
  • relate defect
  • repair defect
  • residual defect
  • ridge defect
  • scalp defect
  • secundum atrial septal defect
  • segmental bone defect
  • segmental defect
  • septal defect
  • severe defect
  • signaling defect
  • significant defect
  • similar defect
  • size defect
  • skeletal defect
  • skin defect
  • skull defect
  • small defect
  • soft tissue defect
  • software defect
  • specific defect
  • sperm defect
  • sphincter defect
  • splicing defect
  • structural defect
  • subtle defect
  • surface defect
  • surgical defect
  • tegmen defect
  • thrombophilic defect
  • tissue defect
  • tract defect
  • tube defect
  • underlying genetic defect
  • untreated defect
  • urethral defect
  • urinary tract defect
  • vacancy defect
  • various defect
  • vascular defect
  • ventilation defect
  • ventricular septal defect
  • vision defect
  • visual defect
  • visual field defect
  • wall defect
  • wing defect

  • Terms modified by Defects

  • defect area
  • defect center
  • defect closure
  • defect concentration
  • defect content
  • defect coverage
  • defect density
  • defect depth
  • defect distribution
  • defect formation
  • defect level
  • defect model
  • defect rate
  • defect reconstruction
  • defect region
  • defect repair
  • defect site
  • defect size
  • defect state
  • defect states
  • defect structure
  • defect width

  • Selected Abstracts


    MICROCEPHALY,LYMPHOEDEMA,CHORIORETINAL,DYSPLASIA SYNDROME WITH ATRIAL SEPTAL DEFECT

    PEDIATRIC DERMATOLOGY, Issue 4 2005
    R. M. STRAUSS
    No abstract is available for this article. [source]


    NEW ENDOSCOPIC TECHNIQUE TO CLOSE LARGE MUCOSAL DEFECTS AFTER ENDOSCOPIC MUCOSAL RESECTION IN PATIENTS WITH GASTRIC MUCOSAL TUMORS

    DIGESTIVE ENDOSCOPY, Issue 4 2004
    Masaki Endo
    Endoscopic mucosal resection has been recognized as a standard method for treating mucosal tumors of the stomach in Japan. In our department, we have treated mucosal defects after this procedure by using metallic clips to prevent and manage complications related to endoscopic mucosal resection. In the present study, we explain the new technique, the ,loop-and-clips' method, which uses clips and a detachable snare to close large mucosal defects after endoscopic mucosal resection. [source]


    Device Closure of a Secundum Atrial Septal Defect in a 4-Month-Old Infant with a Marginal Left Ventricle Following Coarctation Repair

    CONGENITAL HEART DISEASE, Issue 6 2007
    Emilie Jean-St-Michel BSc
    ABSTRACT A male infant presented at birth with severe coarctation of the aorta and marginal left ventricular and mitral valve dimensions associated with a large secundum atrial septal defect. Following successful arch repair, the left ventricle remained small with preferential left-to-right atrial shunting and a dilated right ventricle. Clinically, the infant continued with tachypnea, poor feeding, and failure to thrive. At 4 months of age, the defect was closed with an Amplatzer Atrial Septal Occluder which resulted in immediate left ventricular cavity enlargement and clinical improvement. [source]


    Transcatheter versus Surgical Closure of Secundum Atrial Septal Defect in Adults: Impact of Age at Intervention.

    CONGENITAL HEART DISEASE, Issue 3 2007
    A Concurrent Matched Comparative Study
    Abstract Objectives., To compare the short- and mid-term outcomes of surgical (SUR) vs. transcatheter closure of secundum atrial septal defect (ASD) using Amplatzer septal occluder (ASO) in adults with a very similar spectrum of the disease; and to identify predictors for the primary end point. Design., Single-center, concurrent comparative study. Surgically treated patients were randomly matched (2:1) by age, sex, date of procedure, ASD size, and hemodynamic profile. Setting., Tertiary referral center. Patients., One hundred sixty-two concurrent patients with ASD submitted to ASO (n = 54) or SUR closure (n = 108) according with their preferences. Main Outcome Measures., Primary end point was a composite index of major events including failure of the procedure, important bleeding, critical arrhythmias, serious infections, embolism, or any major cardiovascular intervention-related complication. Predictors of these major events were investigated. Results., Atrial septal defects were successfully closed in all patients, and there was no mortality. The primary event rate was 13.2% in ASO vs. 25.0% in SUR (P = .001). Multivariate analysis showed that higher rate of events was significantly associated with age >40 years; systemic/pulmonary output ratio <2.1; and systolic pulmonary arterial pressure >50 mm Hg; while in the ASO group the event rate was only associated with the ASD size (>15 cm2/m2; relative risk = 1.75, 95% confidence interval 1.01,8.8). There were no differences in the event-free survival curves in adults with ages <40 years. Conclusions., The efficacy for closure ASD was similar in both groups. The higher morbidity observed in SUR group was observed only in the patients submitted to the procedure with age >40 years. The length of hospital stay was shorter in the ASO group. Surgical closure is a safe and effective treatment, especially in young adults. There is certainly nothing wrong with continuing to do surgery in countries where the resources are limited. [source]


    Large Apical Muscular Ventricular Septal Defect: Asymptomatic due to Anomalous Muscle Bundles in the Right Ventricle

    CONGENITAL HEART DISEASE, Issue 1 2007
    Anant Khositseth MD
    ABSTRACT This case report demonstrated an apical muscular ventricular septal defect (VSD) that was a large defect but behaved like a small defect because of the restrictive flow across the anomalous muscle bundles in the right ventricular (RV) apex. The anomalous muscle bundles separated the RV sinus into two parts: the RV apex connecting with the left ventricle through the apical muscular VSD on one side, and the rest of the RV sinus connecting with RV inflow and RV outflow on the other side. These findings explained why the 11-year-old girl in this study remained asymptomatic without evidence of volume load. Thus far, it was not necessary to close her defect because of the hemodynamic insignificance. [source]


    Multiple V-Y Advancement and Rotation Flaps for a Large Cheek Defect

    DERMATOLOGIC SURGERY, Issue 10 2010
    RAMESH KUMAR SHARMA MCh
    The authors have indicated no significant interest with commercial supporters. [source]


    Medium-Sized Lower Eyelid Defect Reconstructed with a Bilobed Flap

    DERMATOLOGIC SURGERY, Issue 5 2010
    GALEN H. FISHER MD
    Galen H. Fisher, MD, has indicated no significant interest with commercial supporters. [source]


    Combined Linear Closure and Burow's Graft for a Dorsal Nasal Defect

    DERMATOLOGIC SURGERY, Issue 1 2006
    DANIEL S. BEHROOZAN MD
    First page of article [source]


    Repair of a Glabellar and Inferior Forehead Defect

    DERMATOLOGIC SURGERY, Issue 1 2006
    RUCHIK S. DESAI MD
    No abstract is available for this article. [source]


    Use of a Living Dermal Equivalent for a Refractory Abdominal Defect after Pediatric Multivisceral Transplantation

    DERMATOLOGIC SURGERY, Issue 9 2004
    Carlos A. Charles MD
    Background. Primary closure is not always possible after pediatric multivisceral transplantation. Reepithelialization may require extended periods of postoperative time, which can be associated with significant morbidity Objective. The objective was to accelerate secondary wound closure thereby minimizing infection or further complications in a pediatric multivisceral transplant patient. Methods. Five applications of human fibroblast-derived dermis (Dermagraft, Smith and Nephew) were applied to the postsurgical defect of a pediatric multivisceral transplant patient over the course of 8 months. Routine wound care and observation was performed between human fibroblast-derived dermis applications. Results. Human fibroblast-derived dermis stimulated healing and accelerated reepithelialization. Signs of clinical rejection or infection were not observed. Conclusion. Reepithelialization can be aided in the postoperative period in pediatric multivisceral transplant patients with human fibroblast-derived dermis, thereby helping to deter complications associated with secondary wound closure. We have illustrated the successful use of a human fibroblast-derived dermis as an adjunct for wound healing in a complicated surgical defect. [source]


    Perimembranous Ventricular Septal Defect and Gerbode Defect

    ECHOCARDIOGRAPHY, Issue 2 2010
    Adolfo A. Blanco M.D.
    A 27-year-old male presented with a known history of congenital ventricular septal defect (VSD). A Gerbode-type defect was discovered intraoperatively that was originally misinterpreted as pulmonary hypertension. The case report will review the Gerbode defect and the transesophageal echocardiography findings. It is important, in patients with history of perimembranous VSD, to consider Gerbode-type defect when the tricuspid regurgitation jet velocity is high (Echocardiography 2010;27:215-217) [source]


    Substantial Thalamostriatal Dopaminergic Defect in Unverricht-Lundborg Disease

    EPILEPSIA, Issue 9 2007
    Miikka Korja
    Summary:,Purpose: Unverricht-Lundborg disease (ULD) is currently classified as progressive myoclonus epilepsy. Myoclonus, the characteristic symptom in ULD, suggests that dopamine neurotransmission may be involved in the pathophysiology of ULD. Our purpose was to examine brain dopaminergic function in ULD patients. Methods: Four genetically and clinically diagnosed ULD patients and eight healthy controls were scanned with [11C]raclopride-PET. PET images were coregistered to individual 1.5T MR images and region-of-interest analysis was performed for the striatum and thalamus. Standardized uptake values and individual voxel-wise binding potential maps of the patients and controls were also analyzed. Results: ULD patients had markedly higher (31,54%) dopamine D2-like receptor availabilities than healthy controls in both the striatum and the thalamus. The proportionally highest binding potentials were detected in the thalamus. There were no significant differences in the cerebellar uptake of [11C]raclopride in ULD patients versus healthy controls. Voxel-based results were in accordance with the region-of-interest analysis. Conclusions: These results suggest that dopaminergic modulation at the level of the striatum and thalamus could be a crucial factor contributing to the symptoms of ULD. In the light of our data, we propose that ULD with dopamine dysfunction and dyskinetic symptoms shares certain pathophysiological mechanisms with classical movement disorders. Future studies are therefore warranted to study the effect of dopaminergic pharmacotherapy in ULD. [source]


    Severe Epilepsy in X-Linked Creatine Transporter Defect (CRTR-D)

    EPILEPSIA, Issue 6 2007
    Maria Margherita Mancardi
    Disorders of creatine synthesis or its transporter resulting in neurological impairment with mental retardation and epilepsy have only been recognized in recent years. To date, the epileptic disorder observed in creatine transporter deficiency (CRTR-D) has been described as a mild phenotype with infrequent seizures and favorable response to common antiepileptic drugs. We report on a 5 year-old boy with known speech delay who presented with severe and refractory epilepsy. After extensive investigations, metabolite analysis and brain 1H-MRS suggested CRTR-D, which was confirmed by the detection of a known pathogenic mutation in the SLC6A8 gene (c.1631C>T; p.Pro544Leu). [source]


    Reconstruction of a Rabbit Ulna Bone Defect Using Bone Marrow Stromal Cells and a PLA/, -TCP Composite by a Novel Sintering Method,

    ADVANCED ENGINEERING MATERIALS, Issue 11 2009
    Youngmee Jung
    We developed PLA/, -TCP composites with a novel sintering method in order to enhance cellular interaction with matrices for bone regeneration. Thereafter, we confirmed the superior bone-forming characteristics of PLA/, -TCP cell-composite constructs resulting from greater surface exposure of the , -TCP particles, which may yield higher osteogenic and osteoconductive properties. [source]


    Emergency Physician Diagnosis of an Atrial Septal Defect: The Bedside Bubble Study

    ACADEMIC EMERGENCY MEDICINE, Issue 5 2010
    J. Scott Bomann DO
    No abstract is available for this article. [source]


    Intrinsic Ferroelectric Properties of Strained Tetragonal PbZr0.2Ti0.8O3 Obtained on Layer,by,Layer Grown, Defect,Free Single,Crystalline Films,

    ADVANCED MATERIALS, Issue 13 2006
    I. Vrejoiu
    Ferroelectric single,crystalline PbZr0.2Ti0.8O3 thin films, free from extended defects, are grown by pulsed laser deposition onto vicinal SrTiO3(001) single crystals. The PbZr0.2Ti0.8O3 films are strained and exhibit enhanced tetragonality, c/a,,,1.06. They have a remnant polarization, Pr,,,110,,C,cm,2, dielectric constant, ,33,,,90, and piezoelectric coefficient, d33, up to 50,pm,V,1 (see figure). [source]


    Shock Wave Application Enhances Pertussis Toxin Protein-Sensitive Bone Formation of Segmental Femoral Defect in Rats,

    JOURNAL OF BONE AND MINERAL RESEARCH, Issue 12 2003
    Yeung-Jen Chen
    Abstract Extracorporeal shock waves (ESWs) elicit a dose-dependent effect on the healing of segmental femoral defects in rats. After ESW treatment, the segmental defect underwent progressive mesenchymal aggregation, endochondral ossification, and hard callus formation. Along with the intensive bone formation, there was a persistent increase in TGF-,1 and BMP-2 expression. Pretreatment with pertussis toxin reduced ESW-promoted callus formation and gap healing, which presumably suggests that Gi proteins mediate osteogenic signaling. Introduction: Extracorporeal shock waves (ESWs) have previously been used to promote bone repair. In our previous report, we found that ESWs promoted osteogenic differentiation of mesenchymal cells through membrane perturbation and activation of Ras protein. In this report, we show that ESWs elicit a dose-dependent effect on the healing of segmental defects and that Gi proteins play an important role in mediating ESW stimulation. Materials and Methods: Rats with segmental femoral defects were subjected to ESW treatment at different energy flux densities (EFD) and impulses. Bone mass (mineral density and calcium content), osteogenic activities (bone alkaline phosphatase activity and osteocalcin content), and immunohistochemistry were assessed. Results: An optimal ESW energy (500 impulses at 0.16 mJ/mm2 EFD) stimulated complete bone healing without complications. ESW-augmented healing was characterized by significant increases (p < 0.01) in callus size, bone mineral density, and bone tissue formation. With exposure to ESW, alkaline phosphatase activity and osteocalcin production in calluses were found to be significantly enhanced (p < 0.05). After ESW treatment, the histological changes we noted included progressive mesenchymal aggregation, endochondral ossification, and hard callus formation. Intensive bone formation was associated with a persistent increase in transforming growth factor-beta 1 (TGF-,1) and bone morphogenetic protein-2 (BMP-2) expression, suggesting both growth factors were active in ESW-promoted bone formation. We also found that pertussis toxin, an inhibitor of membrane-bound Gi proteins, significantly reduced (p < 0.01) ESW promotion of callus formation and fracture healing. Conclusion: ESW treatments enhanced bone formation and the healing of segmental femoral defects in rats. It also seems likely that TGF-,1 and BMP-2 are important osteogenic factors for ESW promotion of fracture healing, presumably through Gi protein-mediated osteogenic signaling. [source]


    Simultaneous Left Ventricular Pseudo-Aneurysm and Ruptured Ventricular Septal Defect Following an Acute Myocardial Infarction

    JOURNAL OF CARDIAC SURGERY, Issue 5 2010
    Mohammed Hassan M.D.
    No abstract is available for this article. [source]


    Tricuspid Valvectomy to Facilitate Repair of Postinfarction Ventricular Septal Defect

    JOURNAL OF CARDIAC SURGERY, Issue 5 2008
    Elena A Ashikhmina M.D.
    Avoidance of ventriculotomy by transatrial repair may decrease risks of bleeding and impairment of ventricular function secondary to suture placement; however, adequate exposure of the defect through the tricuspid valve is not always possible. We present a case of successful transatrial repair of posterior postinfarction VSD with concurrent tricuspid valvectomy and coronary artery grafting. [source]


    Hemostatic Defect in Baboons Autotransfused Treated Plasma to Simulate Shed Blood

    JOURNAL OF CARDIAC SURGERY, Issue 6 2006
    C. Robert Valeri M.D.
    This study was done to determine how autotransfusion of nontreated plasma and plasma treated with urokinase with and without aprotinin affected hemostasis in healthy baboons. Methods: A 500-mL volume of blood was collected from the baboon, a 250-mL volume of plasma was isolated, and the RBCs were reinfused. Three baboons were autotransfused untreated plasma. Four baboons received plasma that had been treated with 3000 IU/mL urokinase at +37°C for 30 minutes. Eight baboons received plasma that had been treated first with urokinase 3000 IU/mL at +37°C for 30 minutes and then with aprotinin (1000 KIU/mL). Bleeding time, fibrinogen degradation products (FDP), D-dimer, and alpha-2 antiplasmin levels were measured. Results: During the 4-hour period following autotransfusion of the urokinase-aprotinin-treated plasma, the levels of D-dimer and FDP were significantly higher and fibrinogen and alpha-2 antiplasmin levels were significantly lower than those levels seen after the autotransfusion of nontreated plasma. FDP and D-dimer levels showed significant positive correlations with prothrombin time (PT) and activated partial thromboplastin time (aPTT). A significant negative correlation was observed between thrombin time (TT) and fibrinogen level. A significant positive correlation was observed between bleeding time and D-dimer level and a significant negative correlation between the bleeding time and the fibrinogen level. Conclusions: The infusion of a volume of urokinase or urokinase-aprotinin treated autologous plasma equivalent to 15% of the blood volume was not associated with a bleeding diathesis in healthy baboons. [source]


    Ross Procedure for Aortic Insufficiency Due to Doubly Committed Subarterial Ventricular Septal Defect in Adults

    JOURNAL OF CARDIAC SURGERY, Issue 5 2005
    Ph.D., Shoh Tatebe M.D.
    Preoperatively, she developed congestive heart failure because of less compliance to oral medication, raising concerns regarding life-threatening thromboembolism if she undergoes mechanical valve replacement. Despite the pulmonary autograft being defective, there were no difficulties in completing the surgery. The defect of pulmonary autograft and the VSD was closed by an expanded polytetrafluoroethylene patch. She tolerated the procedure well and now enjoys improved quality of life. We present a discussion of the indication of Ross procedure in the rare presentation of congenital heart disease, as well as several issues raised in this case. [source]


    Successful Surgical Correction of a Single Atrium Associated with Cleft Mitral Valve Persistent Left Superior Vena Cava and Pulmonary Valvular Stenosis as an Isolated Cardiac Defect

    JOURNAL OF CARDIAC SURGERY, Issue 3 2005
    Akin Izgi M.D.
    It is extremely rare for SA to be observed as an isolated defect. We report here a 13-year-old male patient with SA as an isolated cardiac defect, successfully corrected by surgery. [source]


    Repair of Complete Atrioventricular Septal Defect with Tetralogy of Fallot:

    JOURNAL OF CARDIAC SURGERY, Issue 2 2004
    Literature Review, Our Experience
    Materials and Methods: Between January 1990 and January 2002, 17 consecutive children with CAVSD-TOF underwent complete correction. Nine patients (53%) underwent previous palliation. Mean age at repair was 2.9 ± 1.9 years. Mean gradient across the right ventricular outflow tract was 63 ± 16 mmHg. All children underwent closure of septal defect with a one-patch technique, employing autologous pericardial patch. Maximal tissue was preserved for LAVV reconstruction by making these incisions along the RV aspect of the ventricular septal crest. LAVV annuloplasty was performed in 10 (59%) patients. Six patients (35%) required a transannular patch. Results: Three (17.6%) hospital deaths occurred in this series. Causes of death included progressive heart failure in two patients and multiple organ failure in the other patient. Two patients required mediastinal exploration due to significant bleeding. Dysrhythmias were identified in 4 of 11 patients undergoing a right ventriculotomy versus none of the patients undergoing a transatrial transpulmonary approach (p = ns). The mean intensive care unit stay was 3.2 ± 2.4 days. Two patients required late reoperation due to severe LAVV regurgitation at 8.5 and 21 months, respectively, after the intracardiac complete repair. The mean follow-up time was 36 ± 34 months. All patients survived and are in NYHA functional class I or II. The LAVV regurgitation grade at follow-up was significantly lower than soon after operation, 1.1 ± 0.4 versus 1.7 ± 0.5 (p = 0.002). At follow-up, the mean gradient across the right ventricular outflow tract was 17 ± 6 mmHg, significantly lower than preoperatively (p < 0.001). Conclusions: Complete repair in patients with CAVSD-TOF seems to offer acceptable early and mid-term outcome in terms of mortality, morbidity, and reoperation rate. Palliation prior to complete repair may be reserved in specific cases presenting small pulmonary arteries or severely cyanotic neonates. The RVOT should be managed in the same fashion as for isolated TOF; however, a transatrial transpulmonary approach is our approach of choice. (J Card Surg 2004;19:175-183) [source]


    Repair of Partial Atrioventricular Septal Defect Through a Minimal Right Vertical Infra-Axillary Thoracotomy

    JOURNAL OF CARDIAC SURGERY, Issue 3 2002
    Xiubin Yang M.D.
    Methods: From November 1997 to January 2000, six patients with a mean age of 19.2 ± 7.7 years underwent minimal right vertical infraaxillary thoracotomy (VIAT) for PAVSD repair. Left atrioventricular (AV) valve regurgitation was tested on the beating heart before and after valvuloplasty. Commissuroplasty of the left AV valve and atrial septum repair were done in all patients. Results: There was no operative or late mortality, and no morbidity directly related to the thoracotomy approach. The average length of the incision was 8.3 ± 1.3 cm. The arrest times averaged 32.8 ± 8.3 minutes, and the cardiopulmonary bypass times averaged 66.0 ± 9.0 minutes. One patient had mild-to-moderate left AV valve regurgitation postoperatively. All patients were free of symptoms during follow-up. Conclusion: Minimal right VIAT is a safe, more cosmetic, and less invasive approach than median sternotomy for the repair of PAVSD. [source]


    Not All hERG Pore Domain Mutations Have a Severe Phenotype: G584S Has an Inactivation Gating Defect with Mild Phenotype Compared to G572S, Which Has a Dominant Negative Trafficking Defect and a Severe Phenotype

    JOURNAL OF CARDIOVASCULAR ELECTROPHYSIOLOGY, Issue 8 2009
    JING TING ZHAO Ph.D.
    Introduction: Mutations in the pore domain of the human ether-a-go-go- related gene (hERG) potassium channel are associated with higher risk of sudden death. However, in many kindreds clinical presentation is variable, making it hard to predict risk. We hypothesized that in vitro phenotyping of the intrinsic severity of individual mutations can assist with risk stratification. Methods and Results: We analyzed 2 hERG pore domain mutations, G572S and G584S. Similar to 90% of hERG missense mutations, G572S-hERG subunits did not traffic to the plasma membrane but could coassemble with WT subunits and resulted in a dominant negative suppression of hERG current density. The G584S-hERG subunits traffic normally but have abnormal inactivation gating. Computer models of human ventricular myocyte action potentials (AP), incorporating Markov models of the hERG mutants, indicate that G572S-hERG channels would cause more severe AP prolongation than that seen with G584S-hERG channels. Conclusions: hERG-G572S and -G584S are 2 pore domain mutations that involve the same change in sidechain but have very different in vitro phenotypes; G572S causes a dominant negative trafficking defect, whereas G584S is the first hERG missense mutation where the cause of disease can be exclusively attributed to enhanced inactivation. The G572S mutation is intrinsically more severe than the G584S mutation, consistent with the overall clinical presentation in the 2 small kindreds studied here. Further investigation, involving a larger number of cohorts, to test the hypothesis that in vitro phenotyping of the intrinsic severity of a given mutation will assist with risk stratification is therefore warranted. [source]


    SCN5A Mutation Associated with Cardiac Conduction Defect and Atrial Arrhythmias

    JOURNAL OF CARDIOVASCULAR ELECTROPHYSIOLOGY, Issue 5 2006
    PÄIVI J. LAITINEN-FORSBLOM Ph.D.
    Introduction: We aimed at identifying the molecular defect underlying the clinical phenotype of a Finnish family with a cardiac conduction defect and atrial arrhythmias. Methods and Results: A large Finnish family was clinically evaluated (ECG, 24-hour ambulatory ECG, echocardiography). We performed linkage analysis with markers flanking the SCN5A gene and subsequently sequenced the SCN5A gene. Five family members had atrial arrhythmias and intracardiac conduction defects, and due to bradycardia needed a pacemaker when adolescents. No heart failure or sudden cardiac death was observed. Left ventricle dilatation was seen in one individual and three individuals had a slightly enlarged right ventricle. Premature death due to stroke occurred in one subject during the study, and two other members had suffered from stroke at young age. Linkage analysis favored the role of the SCN5A gene in disease pathogenesis, and direct sequencing disclosed D1275N mutation. This alteration was present not only in all six affected individuals, but also in two young individuals lacking clinical symptoms. Conclusions: Cardiac conduction defect and atrial arrhythmias in a large Finnish family appear to result from the SCN5A D1275N mutation. Although no sudden cardiac death was recorded in the family, at least three affected members had encountered brain infarction at the age of 30 or younger. [source]


    Pink Color Defect in Poultry White Meat as Affected by Endogenous Conditions

    JOURNAL OF FOOD SCIENCE, Issue 3 2003
    K. Holownia
    ABSTRACT The pinking defect in cooked, uncured meat has been a problem in the poultry industry for nearly 40 years. Through the years, analyses of data revealed various processing factors that seem to influence the specific biochemical conditions (pH, redox potential, denaturation, reacting ligands) of the meat that are related to the chemical state of the pigments in cooked meat, their structure, and reactivity. This review addresses endogenous conditions that affect the pigments' reactivity, and research studies conducted on in situ conditions resulting in pinking in cooked meat. Future studies could be devised for understanding mechanisms leading to developing processes for reduction/elimination of the pink defect in cooked white poultry meat. [source]


    Percutaneous Closure of Postmyocardial Infarction Ventricular Septal Defect

    JOURNAL OF INTERVENTIONAL CARDIOLOGY, Issue 2006
    FRANCISCO GARAY M.D.
    Postinfarction ventricular septal defect remains an important complication for myocardial infarction. It is associated with high mortality and morbidity. Despite early surgical closure attempts, mortality remains about 19,49%. Percutaneous approach, especially in high surgical risk patients is a promising alternative to traditional surgical closure, thus avoiding the deleterious effects of cardiopulmonary bypass and the ventriculotomy. The Amplatzer P.I. Ventricular Septal Defect Occluder is a device specifically designed to percutaneously close these defects in adult patients. The results reported using this device are comparable (if not better) to those for surgical closure. Here, we review the experience using this device and depict in detail the technical aspects of the procedure. [source]


    Relevance of Osteoinductive Biomaterials in Critical-Sized Orthotopic Defect

    JOURNAL OF ORTHOPAEDIC RESEARCH, Issue 5 2006
    Pamela Habibovic
    Abstract Several publications have shown the phenomenon of osteoinduction by biomaterials to be real. However, whether the ability of a biomaterial to initiate bone formation in ectopic implantation sites improves the performance of such osteoinductive biomaterial in clinically relevant orthotopic sites remains unclear. No studies have been published in which osteoinductive potential of a biomaterial is directly related to its performance orthotopically. In this study, we compared osteoinductive and nonosteoinductive biphasic calcium,phosphate (BCP) ceramics ectopically and in a clinically relevant critical-sized orthotopic defect in goats. The two materials, BCP1150 and BCP1300, had similar chemical compositions, crystallinities, and macrostructures, but their microstructures differed significantly. BCP1150, sintered at a lower temperature, had a large amount of micropores, small average crystal size, and hence a high specific surface area. In contrast, BCP1300, with few micropores, had a significantly lower specific surface area as compared to BCP1150. Twelve-week intramuscular implantation in goats (n,=,10) showed that bone was induced in all BCP1150 implants, while no signs of bone formation were found in any of the BCP1300 implants. After 12 weeks of implantation in a bilateral critical-sized iliac wing defect in the same goats, BCP1150 showed significantly more bone than BCP1300. In addition, the analysis of fluorochrome markers, which were administered to the animals 4, 6, and 8 weeks after implantation to follow the bone growth dynamics, showed an earlier start of bone formation in BCP1150 as compared to BCP1300. Significantly better performance of an osteoinductive ceramic in a critical-sized orthotopic defect in a large animal model in comparison to a nonosteoinductive ceramic suggests osteoinduction to be clinically relevant. Further improvement of material osteoinductive properties is thus a significant step forward in the search for alternatives for autologous bone graft. © 2006 Orthopaedic Research Society. Published by Wiley Periodicals, Inc. J Orthop Res [source]


    Smoke Exposure Exacerbates an Ethanol-Induced Defect in Mucociliary Clearance of Streptococcus pneumoniae

    ALCOHOLISM, Issue 5 2005
    Elizabeth A. Vander Top
    Background: Alcoholics and smokers are particularly susceptible to pulmonary infections caused by Streptococcus pneumoniae, the pneumococcus. Infection begins when pneumococci colonizing the nasopharynx are aspirated into the lower respiratory tract. The major host defense against this movement is the mucociliary clearance apparatus. Both cigarette smoke and ethanol (EtOH) exposure alter ciliary beating and protein kinase activity in the respiratory mucosa in vitro, but their effects on bacterial clearance in the intact animal have not been determined. Methods: Male Sprague Dawley rats were exposed twice daily for 12 weeks to either the smoke generated from 30 cigarettes (smoke,exposed) or room air (sham,exposed). For the last five weeks of smoke exposure, the rats were fed Lieber-DeCarli liquid diets containing 0%, 16%, 26%, or 36% EtOH calories. The rats then were infected intranasally with S. pneumoniae, and movement of the organisms into the lower respiratory tract was quantified by plate counts of the tracheas and lungs 4 hr later. Ciliary beat frequency (CBF) analysis was performed on tracheal ring explants from each animal before and after stimulation with the ,-agonist isoproterenol, and tracheal epithelial cell protein kinase C (PKC) activity was measured. Results: Ingestion of any of the EtOH-containing diets resulted in a dose-dependent increase in movement of S. pneumoniae into the rats' lungs. This EtOH-induced defect was augmented further by concurrent smoke exposure, although smoke exposure alone had little effect on S. pneumoniae movement. Smoke, but not EtOH exposure, activated tracheal epithelial cell PKC. Increased movement of organisms into lungs correlated with a decrease in CBF and loss of the ciliary response to isoproterenol. Conclusion: EtOH ingestion in our model facilitated movement of S. pneumoniae into rats' lungs, a phenomenon exacerbated by concurrent smoke exposure. Furthermore, the organism's movement into the lungs correlated with a blunting of the rats' ciliary response to an established stimulus. Defects in mucociliary clearance thus may be one cause of the increased risk of pneumococcal infections in people who abuse alcohol, particularly if they also smoke. [source]