Home About us Contact
|
Home About us Contact | ||
|
|
||
Heart Defects (heart + defects)
Kinds of Heart Defects Selected AbstractsRight Ventricular Function in Congenital Heart Defects Assessed by Regional Wall MotionCONGENITAL HEART DISEASE, Issue 3 2010FSCAI, Michael R. Nihill MB ABSTRACT Objectives., To develop a simple method to assess right ventricular function by angiography. Background., Conventional methods of evaluating right ventricular function are inaccurate, cumbersome, and expensive. Methods., We analyzed biplane right ventricular angiograms taken in the posterior,anterior and lateral projections using software to measure right ventricular volumes and regional wall motion in 78 patients with normal hearts (n = 29), atrial septal defects (ASD n = 13), pulmonary valve stenosis (PVS n = 21), and postoperative atrial switch patients (n = 15). We also measured the shortening fraction (SF) from the midtricuspid annulus to the septum and correlated various angiographic measurements with the right ventricular (RV) ejection fraction. Results., The volume-overloaded patients (ASD) had larger end diastolic volumes and increased SF compared with normal patients, while the pressure-loaded patients (PVS) had normal volumes and SF. The postoperative atrial switch patients had decreased systolic function and increased end diastolic volume. The SF for all of the patients correlated with the ejection fraction (r= 0.785, P, .0001). Conclusions., A simple measurement of the end diastolic and end systolic distance from the midtricuspid annulus to the septum (SF) provides a good index of RV function by angiography and correlates well with RV ejection fraction. [source] Headache and Heart Defects: Closing a Hole to Free the Mind?HEADACHE, Issue 6 2007Gianluca Rigatelli MD No abstract is available for this article. [source] Advances in Transcatheter Patch Occlusion of Heart DefectsJOURNAL OF INTERVENTIONAL CARDIOLOGY, Issue 5 2003E. B. SIDERIS M.D. The transcatheter patch device consists of the following components: a sleeve type polyurethane patch, a double balloon support catheter and a retrieval thread. It has been applied in a variety of heart defects, including various types of atrial septal defects, ventricular septal defects and patent ductus arteriosus. New advances include an accelerated release time for many applications and better immobilization. Using accelerated fibrin formation principles, transcatheter path release time has been decreased to less than 24 hours for patent ductus arteriosus and some ventricular septal defects; in contrast 48 hours are required for patch release in large atrial septal defects. The device is also unlikely to move away from the septum using the new immobilization methods. Since the patch is inflatable, only three sizes are required for the occlusion of all defect types and sizes. Conclusion: In conclusion the transcatheter patch is applicable in a variety of heart defects; the procedure is safer and faster, becoming outpatient, for many applications. Furthermore, it is cost effective. (J Interven Cardiol 2003;16:419,424) [source] Cardiovascular Risk in Special Populations IV: Congenital Heart DefectsPREVENTIVE CARDIOLOGY, Issue 2 2010Philip R. Liebson MD First page of article [source] Evidence by Expression Analysis of Candidate Genes for Congenital Heart Defects in the NF1 Microdeletion IntervalANNALS OF HUMAN GENETICS, Issue 5 2005M. Venturin Summary It was recently reported that congenital heart disease is significantly more frequent in patients with NF1 microdeletion syndrome than in those with classical NF1. The outcome of congenital heart disease in this subset of patients is likely caused by the haploinsufficiency of gene/s in the deletion interval. Following in silico analysis of the deleted region, we found two genes known to be expressed in adult heart, the Joined to JAZF1 (SUZ12) and the Centaurin-alpha 2 (CENTA2) genes, and seven other genes with poorly defined patterns of expression and function. With the aim of defining their expression profiles in human fetal tissues (15th,21st weeks of gestation), expression analysis by RT-PCR and Northern blotting was performed. C17orf40, SUZ12 and CENTA2 were found to be mainly expressed in fetal heart, and following RT-PCR on mouse embryos and embryonic heart and brain at different stages of development, we found that the orthologous genes C17orf40, Suz12 and Centa2 are also expressed in early stages of development, before and during the formation of the four heart chambers. The presence of binding sites for Nkx2-5, a transcription factor expressed early in heart development, in all three mouse orthologous genes was predicted by bioinformatics, thus reinforcing the hypothesis that these genes might be involved in heart development and may be plausible candidates for congenital heart disease. [source] Second lineage of heart forming region provides new understanding of conotruncal heart defectsCONGENITAL ANOMALIES, Issue 1 2010Yuji Nakajima ABSTRACT Abnormal heart development causes various congenital heart defects. Recent cardiovascular biology studies have elucidated the morphological mechanisms involved in normal and abnormal heart development. The primitive heart tube originates from the lateral-most part of the heart forming mesoderm and mainly gives rise to the left ventricle. Then, during the cardiac looping, the outflow tract is elongated by the addition of cardiogenic cells from the both pharyngeal and splanchnic mesoderm (corresponding to anterior and secondary heart field, respectively), which originate from the mediocaudal region of the heart forming mesoderm and are later located anteriorly (rostrally) to the dorsal region of the heart tube. Therefore, the heart progenitors that contribute to the outflow tract region are distinct from those that form the left ventricle. The knowledge that there are two different lineages of heart progenitors in the four-chambered heart provides new understanding of the morphological and molecular etiology of conotruncal heart defects. [source] Understanding heart development and congenital heart defects through developmental biology: A segmental approachCONGENITAL ANOMALIES, Issue 4 2005Masahide Sakabe ABSTRACT The heart is the first organ to form and function during development. In the pregastrula chick embryo, cells contributing to the heart are found in the postero-lateral epiblast. During the pregastrula stages, interaction between the posterior epiblast and hypoblast is required for the anterior lateral plate mesoderm (ALM) to form, from which the heart will later develop. This tissue interaction is replaced by an Activin-like signal in culture. During gastrulation, the ALM is committed to the heart lineage by endoderm-secreted BMP and subsequently differentiates into cardiomyocyte. The right and left precardiac mesoderms migrate toward the ventral midline to form the beating primitive heart tube. Then, the heart tube generates a right-side bend, and the d-loop and presumptive heart segments begin to appear segmentally: outflow tract (OT), right ventricle, left ventricle, atrioventricular (AV) canal, atrium and sinus venosus. T-box transcription factors are involved in the formation of the heart segments: Tbx5 identifies the left ventricle and Tbx20 the right ventricle. After the formation of the heart segments, endothelial cells in the OT and AV regions transform into mesenchyme and generate valvuloseptal endocardial cushion tissue. This phenomenon is called endocardial EMT (epithelial-mesenchymal transformation) and is regulated mainly by BMP and TGF,. Finally, heart septa that have developed in the OT, ventricle, AV canal and atrium come into alignment and fuse, resulting in the completion of the four-chambered heart. Altered development seen in the cardiogenetic process is involved in the pathogenesis of congenital heart defects. Therefore, understanding the molecular nature regulating the ,nodal point' during heart development is important in order to understand the etiology of congenital heart defects, as well as normal heart development. [source] The Long Road to Better ACHD CareCONGENITAL HEART DISEASE, Issue 3 2010Gary Webb MD ABSTRACT The care of adult patients with congenital heart defects in the United States is spotty at best, and needs to improve greatly if the needs of these patients are to be met. The care of American children with congenital heart defects is generally excellent. Pediatric cardiac services are well established and well supported. The care of adults with congenital heart disease (CHD) is well established in only a few American centers. While there are an increasing number of clinics, they are generally poorly resourced with relatively few patients. If located in adult cardiology programs, they are usually minor players. If located in pediatric cardiac programs, they are usually minor players as well. Training programs for adult CHD (ACHD) caregivers are few, informal, and poorly funded. To improve the situation, we need perhaps 25 well-resourced and well-established regional ACHD centers in the United States. We need to stop the loss to care of CHD patients at risk of poor outcomes. We need to educate patients and families about the need for lifelong and skilled surveillance and care. We need to effect an orderly transfer from pediatric to adult care. We need to strengthen the human resource infrastructure of ACHD care through the training and hiring of healthcare professionals of a quality equivalent to those working in the pediatric care environment. We need to demonstrate that adult care is high quality care. We need more high-quality ACHD research. The ACHD community needs to establish its credibility with pediatric cardiac providers, adult cardiology groups, with governments, with professional organizations, and with research funding agencies. Accordingly, there is a need for strong political action on behalf of American ACHD patients. This must be led by patients and families. These efforts should be supported by pediatric cardiologists and children's hospitals, as well as by national professional organizations, governments, and health insurance companies. The goal of this political action should be to see that ACHD patients can receive high-quality lifelong surveillance, that we lose fewer patients to care, and that the staff and other services needed are available nationwide. [source] Anomalous Left Anterior Descending Coronary Artery from the Pulmonary Artery, Unroofed Coronary Sinus, Patent Foramen Ovale, and a Persistent Left-sided SVC in a Single Patient: A Harmonious Quartet of DefectsCONGENITAL HEART DISEASE, Issue 2 2009Andrew J. Klein MD ABSTRACT Unroofing of the coronary sinus without complex structural heart defects is a rare congenital defect often seen in conjunction with a persistent left-sided superior vena cava. Anomalous origin of the left anterior descending artery from the pulmonary artery with normal origin of the left circumflex coronary artery is an even rarer congenital cardiac defect. We report a case of a 54-year-old woman presenting with mild dyspnea on exertion who was found on invasive and noninvasive evaluations to have a unique combination of defects,unroofed coronary sinus, persistent left-sided superior vena cava, patent foramen ovale, and anomalous origin of the left anterior descending artery from the pulmonary artery without evidence of previous coronary ischemia. [source] Characterization of the cardiac phenotype in neonatal Ts65Dn miceDEVELOPMENTAL DYNAMICS, Issue 2 2008Austin D. Williams Abstract The Ts65Dn mouse is the most-studied of murine models for Down syndrome. Homology between the triplicated murine genes and those on human chromosome 21 correlates with shared anomalies of Ts65Dn mice and Down syndrome patients, including congenital heart defects. Lethality is associated with inheritance of the T65Dn chromosome, and anomalies such as right aortic arch with Kommerell's diverticulum and interrupted aortic arch were found in trisomic neonates. The incidence of gross vascular abnormalities was 17% in the trisomic population. Histological analyses revealed interventricular septal defects and broad foramen ovale, while immunohistochemistry showed abnormal muscle composition in the cardiac valves of trisomic neonates. These findings confirm that the gene imbalance present in Ts65Dn disrupts crucial pathways during cardiac development. The candidate genes for congenital heart defects that are among the 104 triplicated genes in Ts65Dn mice are, therefore, implicated in the dysregulation of normal cardiogenic pathways in this model. Developmental Dynamics 237:426,435, 2008. © 2007 Wiley-Liss, Inc. [source] Mice with mutations in Mahogunin ring finger-1 (Mgrn1) exhibit abnormal patterning of the left,right axisDEVELOPMENTAL DYNAMICS, Issue 12 2006Christina D. Cota Abstract Mahogunin Ring Finger 1 (Mgrn1) encodes a RING-containing protein with ubiquitin ligase activity that has been implicated in pigment-type switching. In addition to having dark fur, mice lacking MGRN1 develop adult-onset spongy degeneration of the central nervous system and have reduced embryonic viability. Observation of complete situs inversus in a small proportion of adult Mgrn1 mutant mice suggested that embryonic lethality resulted from congenital heart defects due to defective establishment and/or maintenance of the left,right (LR) axis. Here we report that Mgrn1 is expressed in a pattern consistent with a role in LR patterning during early development and that many Mgrn1 mutant embryos show abnormal expression of asymmetrically expressed genes involved in LR patterning. A range of complex heart defects was observed in 20,25% of mid-to-late gestation Mgrn1 mutant embryos and another 20% were dead. This finding was consistent with 46,60% mortality of mutants by weaning age. Our results indicate that Mgrn1 acts early in the LR signaling cascade and is likely to provide new insight into this developmental process as Nodal expression was uncoupled from expression of other Nodal-responsive genes in Mgrn1 mutant embryos. Our work identifies a novel role for MGRN1 in embryonic patterning and suggests that the ubiquitination of MGRN1 target genes is essential for the proper establishment and/or maintenance of the LR axis. Developmental Dynamics 235:3438,3447, 2006. © 2006 Wiley-Liss, Inc. [source] Mechanical ventilation for respiratory failure in children with severe neurological impairment: is it futile medical treatment?DEVELOPMENTAL MEDICINE & CHILD NEUROLOGY, Issue 5 2010JOSEPHUS PJ VAN GESTEL Aim, To assess outcome for children with severe neurological impairment receiving invasive mechanical ventilation for respiratory failure. Method, Medical charts for all such children treated in our intensive care unit (ICU) between January 2003 and July 2008 were reviewed. Outcomes were compared with those for children with moderate neurological impairment. Results, Twenty-two children with severe neurological impairment were included (nine females, 13 males; median age 7y 10mo; range 4mo,17y). The median duration of mechanical ventilation was 16 days. Six children had an uneventful 1-year survival, the others required reintubation or readmission to the ICU, or died. Eleven children were still alive 1 year after discharge from the ICU. Nine patients died of respiratory failure. None of the children in the severe group died of a heart defect. Eleven children with moderate neurological impairment were included (eight females, three males; median age 1y 1mo, range 4mo,13y). Four children had an uneventful 1-year survival. Eight children were still alive 1 year after discharge from the ICU. Two of the three non-survivors died of their heart defects. Interpretation, Mechanical ventilation for respiratory failure in children with severe neurological impairment is complex and associated with limited survival. However, it cannot be regarded as futile medical treatment. Further studies are urgently needed for the rational guidance of clinical decision-making. [source] Are the cognitive functions of children with Down syndrome related to their participation?DEVELOPMENTAL MEDICINE & CHILD NEUROLOGY, Issue 1 2010TANYA RIHTMAN Aim, There is a lack of investigation into the functional developmental profile of children with Down syndrome. On the basis of current international health paradigms, the purpose of this study was to assess the developmental profile of these children. Method, Sixty children (33 males, 27 females) with Down syndrome (age range 6,16y; mean age 9y 3mo, SD 28.8mo), who had received standard, holistic, early intervention, were assessed. Of these, 42 (70%) had congenital anomalies, 12 had severe congenital heart defects. Participants were assessed on measures of cognitive function (Beery,Buktenica Developmental Test of Visual,Motor Integration; Stanford,Binet Intelligence Scale) and participation (Vineland Adaptive Behaviour Scales). Results, No difference was found on any measure on the basis of severity of congenital anomaly. Results showed improvements in age-related body function and correlations between specific body functions and participation. No decline in IQ was found with age, and significant correlations between IQ and all other measures were noted. Although sex differences were found in the body functions of short-term memory and motor function, no difference in measures of activity performance and participation was found. Interpretation, Our findings emphasize the need for paediatric Down syndrome intervention to encourage improved body functions while emphasizing the acquisition of functional skills that enable enhanced participation in age-appropriate activities. [source] Intraoperative Transesophageal Echocardiography in Congenital Heart DiseaseECHOCARDIOGRAPHY, Issue 8 2002F.R.A.C.P., F.R.C.P.(C.)Article first published online: 24 JUL 200, Jeffrey F. Smallhorn M.B.B.S. Intraoperative transesophageal echocardiography has become an integral component of the repair of congenital heart defects. It currently has a direct impact on reducing morbidity and mortality in the pediatric cardiac population. To establish a successful program, it is important to follow guidelines for training as well as having a systematic approach to the evaluation of this patient population. This article addresses the specific indications in a patient population as practiced at the Hospital For Sick Children, Toronto. While there may be subtle differences between programs, the objectives are to provide excellent service to the pediatric cardiac patient in the operating room. [source] Paternal contribution to fetal alcohol syndromeADDICTION BIOLOGY, Issue 2 2004Ernest Abel Maternal alcohol use during pregnancy is associated with a wide range of adverse outcomes for the child. Many women who drink during pregnancy also have male partners who abuse alcohol. Existing data on paternal effects of alcohol abuse during the preconceptual period and at the time of conception are reviewed. Epidemiological data offer some support for a paternal influence on birth weight, congenital heart defects, and some evidence of mild cognitive impairments. Animal data have demonstrated decreased litter size, increased prevalence of low birth weight fetuses and mixed data on risk of malformations. Increased susceptibility to Pseudomonas bacterial infection has been reported. Cognitive and behavioral findings are the most robust effects. These include learning and memory deficits, hyperactivity, and poor stress tolerance. Multiple causal mechanisms for a paternal effect have been suggested, but none seems satisfactory to explain all findings. Further research is needed on paternal effects in animals and human populations. The results of this research may influence prevention activities. [source] The adenine nucleotide translocase type 1 (ANT1): A new factor in mitochondrial diseaseIUBMB LIFE, Issue 9 2005J. Daniel Sharer Abstract Mitochondrial disorders of oxidative phosphorylation (OXPHOS) comprise a growing list of potentially lethal diseases caused by mutations in either mitochondrial (mtDNA) or nuclear DNA (nDNA). Two such conditions, autosomal dominant progressive external ophthalmoplegia (adPEO) and Senger's Syndrome, are associated with dysfunction of the heart and muscle-specific isoform of the adenine nucleotide translocase (ANT1), a nDNA gene product that facilitates transport of ATP and ADP across the inner mitochondrial membrane. AdPEO is a mtDNA deletion disorder broadly characterized by pathology involving the eyes, skeletal muscle, and central nervous system. In addition to ANT1, mutations in at least two other nuclear genes, twinkle and POLG, have been shown to cause mtDNA destabilization associated with adPEO. Senger's syndrome is an autosomal recessive condition characterized by congenital heart defects, abnormalities of skeletal muscle mitochondria, cataracts, and elevated circulatory levels of lactic acid. This syndrome is associated with severe depletion of ANT1, which may be the result of an as yet unidentified ANT1-specific transcriptional or translational processing error. ANT1 has also been associated with a third condition, autosomal dominant facioscapulohumeral muscular dystrophy (FSHD), an adult onset disorder characterized by variable muscle weakness in the face, feet, shoulders, and hips. FSHD patients possess specific DNA deletions on chromosome 4, which appear to cause derepression of several nearby genes, including ANT1. Early development of FSHD may involve mitochondrial dysfunction and increased oxidative stress, possibly associated with overexpression of ANT1. IUBMB Life, 57: 607-614, 2005 [source] The Blalock-Taussig ShuntJOURNAL OF CARDIAC SURGERY, Issue 2 2009Shi-Min Yuan M.D. This warrants us a zest in making a comprehensive survey on this subject. Methods: Articles were extensively retrieved from the MEDLINE database of National Library of Medicine USA if the abstract contained information relevant to the B-T shunt in terms of the conduit options, modified surgical techniques, surgical indications, short- and long-term results, complications, and prognosis. Further retrieval was undertaken by manually searching the reference list of relevant papers. Results: Classical or modified B-T shunts, either on ipsilateral or contralateral side to the aortic arch, can be performed on patients of any age with minimum postoperative complications and low operative mortality. Expended polytetrafluoroethylene has gained satisfactory long-term patency rate in the construction of the modified B-T shunt. Excellent pulmonary artery growth was observed in the patients with a modified B-T shunt, and it has shown superb prognosis over the classic with regard to hemodynamics, patency rate, and survival. Conclusions: The modified B-T shunt that was developed on basis of the classic fashion remains the preferable palliative procedure aiming at enhancing pulmonary blood flow for neonates and infants with complicated cyanotic congenital heart defects. The modified B-T shunt is technically simpler with less dissection, and blood flow to the respective arm is not jeopardized. It has been proved to be of low risk, excellent palliation, and is associated with excellent pulmonary artery growth, has become the most effective palliative shunt procedure of today. [source] Down syndrome: a cardiovascular perspectiveJOURNAL OF INTELLECTUAL DISABILITY RESEARCH, Issue 5 2009J. C. Vis Abstract This review focuses on the heart and vascular system in patients with Down syndrome. A clear knowledge on the wide spectrum of various abnormalities associated with this syndrome is essential for skilful management of cardiac problems in patients with Down syndrome. Epidemiology of congenital heart defects, cardiovascular aspects and thyroid-related cardiac impairment in patients with Down syndrome will be discussed. [source] Hospitalizations of infants and young children with Down syndrome: evidence from inpatient person-records from a statewide administrative databaseJOURNAL OF INTELLECTUAL DISABILITY RESEARCH, Issue 12 2007S. A. So Abstract Background Although individuals with Down syndrome are increasingly living into the adult years, infants and young children with the syndrome continue to be at increased risk for health problems. Using linked, statewide administrative hospital discharge records of all infants with Down syndrome born over a 3-year period, this study ,follows forward' over 200 infants with Down syndrome from each individual's birth until they turn 3 years of age. By utilizing this procedure, we were able to assess the amount, reasons for, and timing of inpatient hospitalization and to investigate how congenital heart defects (CHDs) relate to hospitalization for young children with Down syndrome. Method This population-based, retrospective study used statewide administrative hospital discharge data. Subject inclusion criteria included residents of Tennessee, born between 1997 and 1999, and diagnosed with Down syndrome at birth. Inpatient records were linked to create person-record histories of hospitalization from birth to age 3. Main outcomes included the number of Non-birth Hospitalizations, length of stay, principal and other diagnosis codes to indicate reason(s) for hospitalization, and patient's age at first (non-birth) hospitalization. Procedure codes were added to determine if children with CHD were hospitalized primarily for operations on the heart. Results Of 217 births, 213 children survived birth; 54% (115) had CHDs. Almost half (49.8%) of all children were hospitalized before age 3; these 106 children were admitted 245 times. Children with CHDs were 2.31 times more likely to be hospitalized than children without CHDs. Respiratory illnesses affected 64.9% of all hospitalized children with CHD, were the principal diagnoses in 38.3% of their hospitalizations, and were the main principal diagnoses for non-CHD children. Thirty-three (of 77) hospitalized children with CHD underwent cardiac surgeries, accounting for 19.3% of all admissions. Median time to first hospitalization was 96 days (CI: 78,114) for CHD infants, 197 days (CI: 46,347) for non-CHD infants. Conclusions Children with Down syndrome are at high risk for early hospitalization. Prevention and treatment of respiratory illnesses require more attention. Down syndrome is associated with early, serious, physical health problems and substantial inpatient care use. [source] ASD/PFO Devices: What Is in the Pipeline?JOURNAL OF INTERVENTIONAL CARDIOLOGY, Issue 6 2007NICOLAS MAJUNKE Since the initial description of an atrial septal defect (ASD) occluding device in the mid-1970s by King and Mills,a number of devices have been developed. To date, various transcatheter devices and methods to close congenital heart defects are currently available commercially or within clinical trials. Devices have been designed specifically for the ASD and patent foramen ovale (PFO). The trend in interventional treatment of intracardiac shunts is toward defect-specific systems and new devices minimizing the foreign material left in the atria. This review first focuses on new devices that are not approved in the United States but are elsewhere, and then reviews the experimental devices for PFO and ASD closure. [source] Advances in Transcatheter Patch Occlusion of Heart DefectsJOURNAL OF INTERVENTIONAL CARDIOLOGY, Issue 5 2003E. B. SIDERIS M.D. The transcatheter patch device consists of the following components: a sleeve type polyurethane patch, a double balloon support catheter and a retrieval thread. It has been applied in a variety of heart defects, including various types of atrial septal defects, ventricular septal defects and patent ductus arteriosus. New advances include an accelerated release time for many applications and better immobilization. Using accelerated fibrin formation principles, transcatheter path release time has been decreased to less than 24 hours for patent ductus arteriosus and some ventricular septal defects; in contrast 48 hours are required for patch release in large atrial septal defects. The device is also unlikely to move away from the septum using the new immobilization methods. Since the patch is inflatable, only three sizes are required for the occlusion of all defect types and sizes. Conclusion: In conclusion the transcatheter patch is applicable in a variety of heart defects; the procedure is safer and faster, becoming outpatient, for many applications. Furthermore, it is cost effective. (J Interven Cardiol 2003;16:419,424) [source] Biventricular Pacing as Alternative Therapy for Dilated Cardiomyopathy Associated with Congenital Heart DiseasePACING AND CLINICAL ELECTROPHYSIOLOGY, Issue 2 2001EDWIN RODRÍGUEZ-CRUZ RODRÍGUEZ-CRUZ, E., et al.: Biventricular Pacing as Alternative Therapy for Dilated Cardiomyopathy Associated with Congenital Heart Disease. Biventricular, alternative, and multisite pacing are currently being explored to improve cardiac function among patients with medically refractory, end-stage dilated cardiomyopathies. Although, due to inherent myocardial abnormalities, patients with repaired congenital heart defects may be at a greater risk than others to develop heart failure, often requiring cardiac transplantation. The efficacy of biventricular pacing among these patients is unknown. This report presents a patient with successfully repaired congenital heart disease in infancy who developed a symptomatic dilated cardiomyopathy at 22 years of age. Following biventricular pacing, systemic ventricular function showed a 14% improvement in ventricular dP/dt. One month later, subjective symptoms improved and cardiac ultrasound illustrated a 125% increase in fractional area of change. Exercise stress testing showed a 17% improvement in aerobic work capacity. [source] Comparison of different near-infrared spectroscopic cerebral oxygenation indices with central venous and jugular venous oxygenation saturation in childrenPEDIATRIC ANESTHESIA, Issue 2 2008NICOLE NAGDYMAN Summary Background:, We compared two different near-infrared spectrophotometers: cerebral tissue oxygenation index (TOI) measured by NIRO 200 and regional cerebral oxygenation index (rSO2) measured by INVOS 5100 with venous oxygen saturation in the jugular bulb (SjO2) and central SvO2 from the superior caval vein (SVC) during elective cardiac catheterization in children. Methods:, A prospective observational clinical study in 31 children with congenital heart defects in a catheterization laboratory was undertaken. TOI was compared with SjO2 in the left jugular bulb and with SvO2. rSO2 was compared with SjO2 from the right jugular bulb and SvO2. Linear regression analysis and Pearson's correlation coefficient were calculated and Bland,Altman analyses were performed. Results:, Cerebral TOI and SjO2 were significantly correlated (r = 0.56, P < 0.0001), as well as TOI and SvO2 with r = 0.74 (P < 0.0001). Bland,Altman plots showed a mean bias of ,4.3% with limits of agreement of 15.7% and ,24.3% for TOI and SjO2 and a mean bias of ,4.9% with limits of agreement of 10.3% and ,20.1% for TOI and SvO2. Cerebral rSO2 and SjO2 showed a significant correlation (r = 0.83, P < 0.0001) and rSO2 and SvO2 showed excellent correlation with r = 0.93 (P < 0.0001). Bland,Altman plots showed a mean bias of ,5.2% with limits of agreement of between 8.4% and ,18.8% for rSO2 and SjO2 and a mean bias of 5.6% with limits of agreement of 13.4% and ,2.2% for rSO2 and SvO2. Conclusions:, Both near-infrared spectroscopy devices demonstrate a significant correlation with SjO2 and SvO2 values; nevertheless both devices demonstrate a substantial bias of the measurements to both SjO2 and SvO2. [source] Increased nuchal translucency in euploid fetuses,what should we be telling the parents?PRENATAL DIAGNOSIS, Issue 2 2010C.M. Bilardo Abstract Nuchal translucency (NT) measurement between 11 and 14 weeks' gestation is an undisputed marker for aneuploidies. When conventional karyotyping is normal, enlarged NT is a strong marker for adverse pregnancy outcome, associated with miscarriage, intrauterine death, congenital heart defects, and numerous other structural defects and genetic syndromes. The risk of adverse outcome is proportional to the degree of NT enlargement. Although the majority of structural anomalies are amenable to ultrasound detection, unspecified genetic syndromes involving developmental delay may only emerge after birth. Concern over these prenatally undetectable conditions is a heavy burden for parents. However, following detection of enlarged NT the majority of babies with normal detailed ultrasound examination and echocardiography will have an uneventful outcome with no increased risk for developmental delay when compared to the general population. Counseling should emphasize this to help parents restore hope in normal pregnancy outcome and infant development. Copyright © 2010 John Wiley & Sons, Ltd. [source] Identification of second trimester screen positive pregnancies at increased risk for congenital heart defectsPRENATAL DIAGNOSIS, Issue 6 2009Laura L. Jelliffe-Pawlowski Abstract Objective To examine whether second trimester biomarkers could be used to identify screen positive pregnancies at increased risk for congenital heart defects (CHDs) and measure the effect of using different biomarker cut points on the detection of CHDs and on the performance of predictive models. Methods Included were 19,402 pregnancies without chromosomal defects, which were screen positive for Down syndrome or other birth defects based on maternal serum measurements of alpha-fetoprotein (AFP), human chorionic gonadotrophin (hCG), and unconjugated estriol (uE3). Logistic regression models were built that compared biomarkers for CHD cases compared to controls. Results CHD cases were more likely to be screen positive for trisomy-18, to have a nuchal fold (NF) , 5 mm, and/or to have an hCG multiple of the median (MoM) , 95th percentile in models that considered screen positive grouping. In models that did not consider screen positive grouping, cases were more likely to have a NF , 5 mm, an AFP MoM ,10th percentile, an hCG MoM ,25th percentile, and/or an hCG MoM , 75th percentile. Conclusion Along with NF, second trimester maternal serum biomarkers may be useful indicators for fetal and newborn evaluation for CHDs in screen positive pregnancies without identified chromosomal defects. Copyright © 2009 John Wiley & Sons, Ltd. [source] Prenatal screening for serious congenital heart defects using nuchal translucency: a meta-analysisPRENATAL DIAGNOSIS, Issue 12 2008Nicholas J. Wald Abstract Objectives To assess the performance of nuchal translucency (NT) measurements in screening for congenital heart defects (CHD) which would benefit from prenatal detection. Methods A literature search was conducted of studies published prior to August 2007 of CHD and NT measurements in fetuses without chromosome defects. From this, data on 159 pregnancies were obtained. Fetuses with CHD that would benefit from prenatal detection were identified and their NT measurements were compared with NT measurements in 29 776 unaffected fetuses without Down syndrome from the Serum Urine and Ultrasound Screening Study (SURUSS) trial to determine the screening performance of NT measurements. Results In all 67 fetuses with CHD were identified as potentially likely to benefit from prenatal detection. Using NT measurements, the estimated detection rate (DR) for a 5% false-positive rate (FPR) was 52% (95% CI: 42,71). Conclusion Prenatal screening for CHD using NT measurements is likely to be effective, and given that NT measurement is already in place as part of prenatal screening for Down syndrome; this is an ideal time to set up demonstration projects to validate these results. Copyright © 2008 John Wiley & Sons, Ltd. [source] Structural heart defects associated with an increased nuchal translucency: 9 years experience in a referral centrePRENATAL DIAGNOSIS, Issue 4 2008S. A. Clur Abstract Objective To investigate the congenital heart disease (CHD) found in association with an increased nuchal translucency (NT) at 11,14 weeks of gestation in chromosomally normal and abnormal fetuses. Methods Patients referred from January 1998 until May 2007 with an increased NT (,95th percentile) where CHD was diagnosed were included. Chromosome analysis, fetal and postnatal echocardiography were performed. A postmortem examination followed pregnancy termination when possible. Results Major CHD was identified in 68 of 967 fetuses with an increased NT (median NT 4.8 mm, range 2.5,22 mm). Major CHD was found in 34 of 693 fetuses (4.9%) with a normal karyotype and increased NT (median 5.2 mm, range 2.5,9.6 mm). CHD frequency increased from 1.9%, with NT between 2.5 and 3.5 mm, to 27.7% when NT was , 6.5 mm. Septal defects predominated (20%) when NT was ,3.5 mm. With NT > 3.5 mm an equal distribution of CHD types was seen. Major CHD was identified in 34 of the 274 fetuses with an abnormal karyotype and increased NT (median 4.2 mm, range 2.5,22 mm). Conclusions A variety of CHD is associated with an increased NT in the first trimester of pregnancy. Conotruncal defects, branchial arch derivative defects, left and right obstructive lesions (inflow and outflow) and shunts were seen. Copyright © 2008 John Wiley & Sons, Ltd. [source] Evaluation of prenatal diagnosis of associated congenital heart diseases by fetal ultrasonographic examination in EuropePRENATAL DIAGNOSIS, Issue 4 2001C. Stoll Abstract Ultrasound scans in the mid trimester of pregnancy are now a routine part of antenatal care in most European countries. With the assistance of Registries of Congenital Anomalies a study was undertaken in Europe. The objective of the study was to evaluate prenatal detection of congenital heart defects (CHD) by routine ultrasonographic examination of the fetus. All congenital malformations suspected prenatally and all congenital malformations, including chromosome anomalies, confirmed at birth were identified from the Congenital Malformation Registers, including 20 registers from the following European countries: Austria, Croatia, Denmark, France, Germany, Italy, Lithuania, Spain, Switzerland, The Netherlands, UK and Ukrainia. These registries follow the same methodology. The study period was 1996,1998, 709,030 births were covered, and 8126 cases with congenital malformations were registered. If more than one cardiac malformation was present the case was coded as complex cardiac malformation. CHD were subdivided into ,isolated' when only a cardiac malformation was present and ,associated' when at least one other major extra cardiac malformation was present. The associated CHD were subdivided into chromosomal, syndromic non-chromosomal and multiple. The study comprised 761 associated CHD including 282 cases with multiple malformations, 375 cases with chromosomal anomalies and 104 cases with non-chromosomal syndromes. The proportion of prenatal diagnosis of associated CHD varied in relation to the ultrasound screening policies from 17.9% in countries without routine screening (The Netherlands and Denmark) to 46.0% in countries with only one routine fetal scan and 55.6% in countries with two or three routine fetal scans. The prenatal detection rate of chromosomal anomalies was 40.3% (151/375 cases). This rate for recognized syndromes and multiply malformed with CHD was 51.9% (54/104 cases) and 48.6% (137/282 cases), respectively; 150/229 Down syndrome (65.8%) were livebirths. Concerning the syndromic cases, the detection rate of deletion 22q11, situs anomalies and VATER association was 44.4%, 64.7% and 46.6%, respectively. In conclusion, the present study shows large regional variations in the prenatal detection rate of CHD with the highest rates in European regions with three screening scans. Prenatal diagnosis of CHD is significantly higher if associated malformations are present. Cardiac defects affecting the size of the ventricles have the highest detection rate. Mean gestational age at discovery was 20,24 weeks for the majority of associated cardiac defects. Copyright © 2001 John Wiley & Sons, Ltd. [source] Latest news and product developmentsPRESCRIBER, Issue 14 2007Article first published online: 19 OCT 200 Studies suggest risk of bone loss with SSRIs Two cross-sectional studies have suggested the SSRI antidepressants may be associated with an increased risk of bone loss (Arch Intern Med 2007;167:1240,5 &1246,51). In 2722 older women (mean age 79) living in the community who were participating in the Study of Osteoporotic Fractures cohort study, use of SSRIs was associated with a significant increase in the rate of loss of hip bone density compared with nonusers(0.82 vs 0.47 per cent per year). The rate of loss among women taking a tricyclic antidepressant was also 0.47 per cent per year. Excluding women with more severe depression did not alter the findings. In 5995 men aged 65 or older taking an SSRI in another study, mean bone density was 3.9 per cent lower at the hip and 5.9 per cent lower in the lumbar spine compared with no use of antidepressants. Use of a tricyclic antidepressant or trazodone was not associated with increased bone loss. The authors comment that the degree of bone loss is comparable with that associated with corticosteroids. Serotonin transporters have been identified in osteoblasts and osteocytes. Risk of rare birth defects with SSRIs Two US case-control studies have found qualified evidence that use of SSRIs during the first trimester may be associated with a small increase in the risk of rare neonatal defects (N Engl J Med 2007;356:2675,83 & 2684,92). The Slone Epidemiology Center Birth Defects Study identified 9849 infants with birth defects and 5860 without and found no significant association between SSRI use overall and defects previously attributed to SSRIs (craniosynostosis, omphalocele or heart defects). There was some evidence that sertraline and paroxetine may cause specific defects, but this was based on few cases and the absolute risk remained low. The National Birth Defects Prevention Study identified 9622 infants with major birth defects and 4092 controls. There was no significant association with heart defects but the odds of anencephaly, craniosynostosis and omphalocele were each significantly increased by a factor of 2,3. The authors say the absolute risk remains small and their findings require confirmation. UK data do not support MI link with rosiglitazone An interim analysis of a UK clinical trial of rosiglitazone (Avandia) has found no evidence that it is associated with an increased risk of myocardial infarction (N Eng J Med 2007;357:28,38). A US meta-analysis (N Engl J Med 2007;356:2457,71) recently suggested that the odds of an MI or cardiovascular (CV) death in patients taking rosiglitazone were increased by 40,60 per cent compared with controls. The UK analysis of an ongoing nonblinded trial comparing rosiglitazone plus a sulphonylurea or metformin with sulphonylurea/metformin found no significant differences in the risk of MI or CV death. The risk of heart failure was doubled in patients taking rosiglitazone. The authors comment that, with a mean follow-up of 3.75 years, they had too few data to reach a conclusive finding. Switch piroxicam users to another NSAID The European Medicines Agency has advised prescribers to switch patients who are taking oral piroxicam to another NSAID. The advice follows a reappraisal of the safety of piroxicam when the 2006 review of all nonselective NSAIDs suggested it may be associated with increased risks of GI adverse effects and serious skin reactions. The advice does not apply to topical formulations. Piroxicam should not be prescribed for acute conditions and should not be first-choice for osteoarthritis, rheumatoid arthritis and ankylosing spondylitis. The maximum dose should be 20mg per day and treatment should be reviewed after 14 days. The MHRA states there is no need for urgent action; long-term treatment should be reviewed at the next routine appointment. OTC azithromycin? The MHRA is consulting on a request by a pharmaceutical company to reschedule azithromycin to pharmacy-only status for the treatment of known or suspected Chlamydia trachomatis infection in individuals aged 16 years or older. The applicant envisages supplies being made only when a nucleic acid amplification test (NAAT) is positive. Responses should be submitted to the MHRA (www.mhra.gov.uk) by 2 August. Computers can reduce prescribing errors Computerised prescribing reduces by two-thirds the rate of medication errors associated with handwritten prescriptions, a new review has found (Health Services Research 2007; online doi:10.1111/j.1475,6773. 2007.00751.x). There was some evidence that the risk of all errors, dose errors and adverse effects were reduced by computerisation. The greatest impact was seen in settings with very high error rates (>12 per cent) associated with handwritten prescriptions. However, the studies included produced heterogeneous results and the reduction in errors in prescribing for children was not statistically significant. Furthermore, computerisation did not reduce the rate of prescribing the wrong drug. Echinacea works for colds, new study finds The herbal remedy Echinacea does reduce the risk of catching a cold, according to a new metaanalysis (Lancet Infect Dis 2007;7:473,80). In 2006, a Cochrane review found insufficient evidence to support the benefits claimed for Echinacea. The new study, which additionally included experimentally-induced infections among the 14 trials analysed, found that Echinacea reduced the odds of catching a cold by about half and reduced the average duration of a cold by 1.4 days. Though inconclusive, the possibility of publication bias and heterogeneity between the trials could not be excluded. HRT may reduce cardiovascular risk after all A subgroup analysis of the Women's Health Initiative (WHI) suggests that HRT may reduce the risk of coronary heart disease if started soon after the menopause (N Engl J Med 2007;356:2591,602). The main analysis of WHI showed no cardiovascular benefit for HRT, a finding attributed to the relatively old mean age of participants (59). In the new analysis of 1064 women aged 50,59, HRT use was associated with a significant reduction in coronary artery calcification compared with nonuse, with greater effect associated with greater adherence. Reducing BP key to avoiding heart failure An angiotensin,II receptor blocker (ARB) is no better than other antihypertensives at avoiding the development of heart failure in individuals with hypertension, say US investigators (Lancet 2007;369:2079,87). Drugs that affect the renin-angiotensin system can reduce ventricular hypertrophy and may therefore prevent the development of heart failure in patients with hypertension. This study found similar improvements in diastolic function in 384 patients with hypertension and left ventricular dysfunction randomised to valsartan (Diovan) or placebo in addition to standard antihypertensive treatment for 38 weeks. The authors conclude that blood pressure reduction, not choice of drug, is the most important factor. Copyright © 2007 Wiley Interface Ltd [source] Patterns of dysmorphic features in schizophrenia,AMERICAN JOURNAL OF MEDICAL GENETICS, Issue 8 2001L.E. Scutt Abstract Congenital dysmorphic features are prevalent in schizophrenia and may reflect underlying neurodevelopmental abnormalities. A cluster analysis approach delineating patterns of dysmorphic features has been used in genetics to classify individuals into more etiologically homogeneous subgroups. In the present study, this approach was applied to schizophrenia, using a sample with a suspected genetic syndrome as a testable model. Subjects (n,=,159) with schizophrenia or schizoaffective disorder were ascertained from chronic patient populations (random, n,=,123) or referred with possible 22q11 deletion syndrome (referred, n,=,36). All subjects were evaluated for presence or absence of 70 reliably assessed dysmorphic features, which were used in a three-step cluster analysis. The analysis produced four major clusters with different patterns of dysmorphic features. Significant between,cluster differences were found for rates of 37 dysmorphic features (P,<,0.05), median number of dysmorphic features (P,=,0.0001), and validating features not used in the cluster analysis: mild mental retardation (P,=,0.001) and congenital heart defects (P,=,0.002). Two clusters (1 and 4) appeared to represent more developmental subgroups of schizophrenia with elevated rates of dysmorphic features and validating features. Cluster 1 (n,=,27) comprised mostly referred subjects. Cluster 4 (n,=,18) had a different pattern of dysmorphic features; one subject had a mosaic Turner syndrome variant. Two other clusters had lower rates and patterns of features consistent with those found in previous studies of schizophrenia. Delineating patterns of dysmorphic features may help identify subgroups that could represent neurodevelopmental forms of schizophrenia with more homogeneous origins. © 2001 Wiley-Liss, Inc. [source] | |||||||||||||||||||||||||