Screening for subtelomeric chromosome alteration in a consecutive series of newborns with congenital defects

2008 ◽  
Vol 17 (1) ◽  
pp. 5-12 ◽  
Author(s):  
Laura Rodríguez ◽  
María Luisa Martínez-Fernández ◽  
Elena Mansilla ◽  
Jacobo Mendioroz ◽  
Rosa María Arteaga ◽  
...  
Keyword(s):  
Congenital Defects ◽  
Consecutive Series ◽  
Chromosome Alteration

Assessment of extracranial-intracranial bypass in Moyamoya disease using 3T time-of-flight MR angiography: Comparison with CT angiography

VASA ◽  
2014 ◽  
Vol 43 (4) ◽  
pp. 278-283 ◽  
Author(s):  
Qian Chen ◽  
Rongfeng Qi ◽  
Xiaoqing Cheng ◽  
Changsheng Zhou ◽  
Song Luo ◽  
...  
Keyword(s):  
Image Quality ◽  
Moyamoya Disease ◽  
Mr Angiography ◽  
Time Of Flight ◽  
Consecutive Series ◽  
Tof Mra ◽  
Bypass Patency ◽  
Significant Difference ◽  
Contrast Technique ◽  
Vessel Integrity

Background: To evaluate the value of time-of-flight MR angiography (TOF MRA) for the assessment of extracranial-intracranial (EC-IC) bypass in Moyamoya disease in comparison with computed tomography angiography (CTA). Patients and methods: A consecutive series of 23 patients with Moyamoya disease were analyzed retrospectively. Twenty three patients underwent 25 procedures of extracranial-intracranial bypass. Cranial CTA was performed within one week after the surgery to assess bypass patency. Then TOF MRA was scanned within 24 h after CTA on a 3T MRI system. Using 5-point scales (0 = poor to 4 = excellent), two radiologists rated the image quality and vessel integrity of bypass for three segments (extracranial, trepanation, intracranial). Results: Image quality was high in both CTA and TOF MRA (mean quality score 3.84 ± 0.37 and 3.8 ± 0.41), without statistical difference (p = 0.66). Mean scores of TOF MRA with respect to bypass visualization were higher than CTA in the intracranial segment (p = 0.026). No significant difference of bypass visualization regarding the extracranial and trepanation segments was found between TOF MRA and CTA (p = 0.66 and p = 0.34, respectively). For the trepanation segment, TOF MRA showed pseudo lesions in 2 of all 25 cases. Conclusions: 3T TOF MRA, a non-contrast technique not exposing the patients to radiation, proved to be at least equal to CTA for the assessment of EC-IC bypass, and even superior to CTA with respect to the intracranial segment. In addition, readers should be aware of a potential overestimation showing focal pseudo lesions of the bypass at the trepanation segment in TOF MRA.

Congenital defects: An evaluation and assessment of the state of the science

1981 ◽  
Author(s):  
Allen S. Goldman ◽  
James W. Lash ◽  
Delbert Dayton ◽  
Daniel Nebert
Keyword(s):  
The State ◽  
Congenital Defects ◽  
State Of The Science ◽  
Evaluation And Assessment

Evaluation of a New Rapid Quantitative D-dimer Assay in Patients with Clinically Suspected Deep Vein Thrombosis

1996 ◽  
Vol 75 (03) ◽  
pp. 412-416 ◽  
Author(s):  
Armando D’Angelo ◽  
Gabriella D’Alessandro ◽  
Loredana Tomassini ◽  
Jean Louis Pittet ◽  
G Dupuy ◽  
...  
Keyword(s):  
Deep Vein Thrombosis ◽  
Predictive Value ◽  
Cost Savings ◽  
Pretest Probability ◽  
First Episode ◽  
Consecutive Series ◽  
Vein Thrombosis ◽  
Baseline Testing ◽  
Deep Vein ◽  
D Dimer

SummaryThe sensitivity and specificity for deep vein thrombosis (DVT) of a new rapid, quantitative and precise (total imprecision < 10%) D-dimer assay suitable for individual measurements (VIDAS D-DIMER, bio-Merieux, France) were evaluated in a consecutive series of 103 in- and out-patients submitted to serial compression ultrasonography (C-US) for the clinical suspicion of DVT (n = 66) or of DVT recurrence (n = 37) and symptoms lasting from 1 to 15 days. DVT was found in 22 patients at baseline testing and no patient with an initially negative C-US developed vein incompressibility at follow up. The time elapsed from the onset of symptoms was negatively associated with D-dimer levels both in patients with and in those without DVT. In the entire series of patients, the sensitivity of a positive D-dimer test (≥1.0 Μg/ml) for the presence of DVT was 96% (21/22 patients, 95% confidence interval 75-100%) with a specificity of 75% (64-84%), a negative predictive value of 98% (90-100%), a positive predictive value of 51% (35-67%), and an overall accuracy of 80% (70-87%). A normal D-dimer value (0.22 Μg/ml) was observed in one patient with DVT and symptoms lasting from 15 days. The approach of withholding C-US testing in patients with symptoms lasting from less than 11 days and D-dimer levels below the cut-off value was compared to serial C-US testing alone in a cost-effectiveness analysis subdividing the 66 patients with a first episode according to their clinical pretest probability of DVT. Thrombosis was detected in 6.7% of the patients in the low probability group (n = 15), 16.7% of the patients in the moderate probability group (n = 24), 51.9% of the patients in the high probability group (n = 27) and 8.1% of patients with suspected DVT recurrence. Calculated cost-savings for each DVT diagnosed ranged from 5% in the high pretest probability group to 55% in the low pretest probability group and to 77% in patients with suspected DVT recurrence.The safety of avoiding C-US testing in symptomatic patients with a negative D-dimer test should be evaluated in clinical management studies.

AB0 Blood Groups and Coronary Heart Disease (CHD)

1980 ◽  
Vol 43 (02) ◽  
pp. 137-140 ◽  
Author(s):  
Jan Erikssen ◽  
Erik Thaulow ◽  
Helge Stormorken ◽  
Ole Brendemoen ◽  
Arvid Hellem
Keyword(s):  
Coronary Artery ◽  
Blood Group ◽  
Artery Bypass ◽  
Laboratory Data ◽  
Epidemiological Data ◽  
Consecutive Series ◽  
Related Factors ◽  
Ab0 Blood Groups ◽  
Clinically Significant ◽  
Artery Disease

SummaryThe view based on epidemiological and laboratory data that blood group A subjects (=A) have clinically significant higher thrombotic potential than blood group 0 subjects (= O), is supported by the present finding of a significantly higher platelet retention in A than 0.The completely normal ABO distribution found among 71 cases of proven latent CHD, and the disproportionate excess of 0 vs. A in a consecutive series of 191 coronary artery bypass candidates apparently conflict with epidemiological data indicating a higher risk of achieving CHD in A than 0. The conflict may be solved by suggestinga) that the »thrombotic proneness« in A compared with 0 causes a poorer prognosis in CHD among the former, leaving a disproportionate excess of 0 among longterm CHD survivors, and b) that AB0-related factors have had an insignificant, independent impact on the evolution of preclinical coronary artery disease in our 71 men with latent CHD.

Deficiency of (33P)2MeS-ADP Binding Sites on Platelets with Secretion Defect, Normal Granule Stores and Normal Thromboxane A2 Production

1997 ◽  
Vol 77 (05) ◽  
pp. 0986-0990 ◽  
Author(s):  
Marco Cattaneo ◽  
Rossana Lombardi ◽  
Maddalena L Zighetti ◽  
Christian Gachet ◽  
Philippe Ohlmann ◽  
...  
Keyword(s):  
Binding Sites ◽  
Specific Binding ◽  
Thromboxane A2 ◽  
Normal Subjects ◽  
Congenital Defects ◽  
Normal Production ◽  
Adp Receptor ◽  
Partial Deficiency ◽  
Induced Aggregation ◽  
Platelet Secretion

SummaryBy the term “Primary Secretion Defect” (PSD), we mean a common heterogeneous group of congenital defects of platelet secretion, characterized by a normal primary wave of platelet aggregation induced by ADP and other agonists, a normal concentration of platelet granule contents, and normal production of thromboxane A2. The biochemical abnormalities responsible for PSD are not well known. Since a secretion defect similar to PSD is found in platelets that are severely deficient of binding sites for the ADP analogue 2MeS-ADP and do not aggregate in response to ADP, we tested the hypothesis that PSD platelets have moderately decreased 2MeS-ADP binding sites, which may be sufficient for normal ADP-induced aggregation but not for potentiating platelet secretion. The specific binding of [33P]2MeS-ADP to platelets from 3 PSD patients (347,443 and 490 sites/platelet; KD 2.8-3.9 nM) was lower than to platelets from 24 normal subjects (647 [530-1102]; KD = 3.8 [2.3-7.3]) (median [range]). Normal values were found in a fourth PSD patient (710; KD 3.7). The degree of inhibition of PGE1- induced cAMP increase by 0.1 |μM ADP was lower in patients than in controls. The secretion induced by the endoperoxide analogue U46619 from normal, acetylsalicylic acid-treated platelets under conditions that prevented the formation of large aggregates was potentiated by 1 fimol/1 ADP and inhibited by apyrase. These findings indicate that a partial deficiency of the platelet ADP receptor(s) might be responsible for the defect of platelet secretion in some PSD patients and that ADP potentiates platelet secretion independently of the formation of large aggregates and thromboxane A2 production.

Percutaneous Treatment of Congenital Defects of the Inter-atrial Septum in Adults – Recent Advances and Persistent Pitfalls

2009 ◽  
Vol 4 (1) ◽  
pp. 76
Author(s):  
James Slater ◽  
Mark Fisch ◽  
◽  
Keyword(s):  
Atrial Septal Defect ◽  
Adult Patient ◽  
Patent Foramen Ovale ◽  
Septal Defect ◽  
Percutaneous Treatment ◽  
Atrial Septum ◽  
Congenital Defects ◽  
Foramen Ovale ◽  
Anatomy And Physiology ◽  
Specific Tissue

William Harvey was the first scientist to describe the heart as consisting of separate right- and left-sided circulations. Our understanding of the heart’s anatomy and physiology has grown significantly since this landmark discovery in 1628. Today, we recognise not only the importance of these separate systems, but also the specific tissue that divides them. Our growing understanding of the inter-atrial septum has allowed us to identify defects within this structure and develop effective percutaneous devices for closure of these defects in the adult patient. This article discusses the formation of a patent foramen ovale (PFO) and atrial septal defect (ASD). In addition, we describe the medical illnesses caused by these defects and summarise the indications and risks related to percutaneous closure of these defects. We also report the most up-to-date transcatheter therapeutic options for closure of these common congenital defects in the adult patient.

The Feasibility of Optimal Surgical Result Prediction according to the Centre of Rotation Shift after Multilevel Cervical Total Disc Replacement

2018 ◽  
Vol 1 (2) ◽  
pp. 6
Author(s):  
Jun Ho Lee
Keyword(s):  
Rating Scale ◽  
Clinical Success ◽  
Total Disc Replacement ◽  
Numeric Rating Scale ◽  
Disc Replacement ◽  
Cervical Disc ◽  
Consecutive Series ◽  
Cervical Total Disc Replacement ◽  
Successful Group ◽  
Centre Of Rotation

Objective: This study investigates the relation between shifted locations of centre of rotation (COR) at each cervical level and subsequent surgical outcomes after multilevel cervical total disc replacement (MCTDR) and identifies radiological parameter that corresponded to change of COR after MCTDR. Methods: The study included a consecutive series of 24 patients who were treated with MCTDR following diagnosis of multilevel cervical disc herniation or stenosis. Numeric rating scale (NRS), range of motion (ROM) at both C2-7 segment and TDR implanted levels, and the location of COR at TDR implanted level were evaluated at pre- and post-MCTDR. These parameters were compared between patients who experienced successful and unsuccessful pain relief.Results: The inherent CORs relatively at ventro-cranial coordinates have demonstrated significant migrations to dorso-caudal locations at each cervical levels, more prominent shifts for the successful group, after MCTDR switch. The unsuccessful group showed markedly reduced C2-7 ROM and reduced angular improvement at C2-7 as well as MCTDR level after surgery in comparison with the successful group. Postoperative C2-7 ROM was related to postoperative COR along the X-axis.Conclusions: The crucial determinants for clinical success after MCTDR, other than mere preservation of the ROM both at C2-7 and TDR implanted levels, was the restoration of COR from ventro-cranial location at degenerated cervical motion segment close to normal coordinates by posterior and inferior shifts after MCTDR. The position of COR along the X-axis after MCTDR was an important factor to determine maintenance of C2-7 RO.

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