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1.
Clin Genet ; 89(4): 501-506, 2016 Apr.
Article in English | MEDLINE | ID: mdl-26497935

ABSTRACT

SHORT syndrome has historically been defined by its acronym: short stature (S), hyperextensibility of joints and/or inguinal hernia (H), ocular depression (O), Rieger abnormality (R) and teething delay (T). More recently several research groups have identified PIK3R1 mutations as responsible for SHORT syndrome. Knowledge of the molecular etiology of SHORT syndrome has permitted a reassessment of the clinical phenotype. The detailed phenotypes of 32 individuals with SHORT syndrome and PIK3R1 mutation, including eight newly ascertained individuals, were studied to fully define the syndrome and the indications for PIK3R1 testing. The major features described in the SHORT acronym were not universally seen and only half (52%) had four or more of the classic features. The commonly observed clinical features of SHORT syndrome seen in the cohort included intrauterine growth restriction (IUGR) <10th percentile, postnatal growth restriction, lipoatrophy and the characteristic facial gestalt. Anterior chamber defects and insulin resistance or diabetes were also observed but were not as prevalent. The less specific, or minor features of SHORT syndrome include teething delay, thin wrinkled skin, speech delay, sensorineural deafness, hyperextensibility of joints and inguinal hernia. Given the high risk of diabetes mellitus, regular monitoring of glucose metabolism is warranted. An echocardiogram, ophthalmological and hearing assessments are also recommended.

2.
Circulation ; 104(24): 2886-91, 2001 Dec 11.
Article in English | MEDLINE | ID: mdl-11739301

ABSTRACT

BACKGROUND: Atrial fibrillation (AF) may persist due to structural changes in the atria that are promoted by inflammation. C-reactive protein (CRP), a marker of systemic inflammation, predicts cardiovascular events and stroke, a common sequela of AF. We hypothesized that CRP is elevated in patients with atrial arrhythmias. METHODS AND RESULTS: Using a case-control study design, CRP in 131 patients with atrial arrhythmias was compared with CRP in 71 control patients. Among arrhythmia patients, 6 had frequent atrial ectopy or tachycardia, 86 had paroxysmal AF, 39 had persistent AF lasting >30 days, and 70 had lone arrhythmias. CRP was higher in arrhythmia than in control patients (median, 0.21 versus 0.096 mg/dL; P<0.001). Arrhythmia patients in AF within 24 hours before sampling had higher CRP than those in sinus rhythm (0.30 versus 0.15 mg/dL; P<0.001). CRP in controls was not different than in patients with atrial ectopy or tachycardia. Lone arrhythmia patients had a CRP of 0.21 mg/dL, which was not significantly lower than arrhythmia patients with structural heart disease (CRP, 0.23 mg/dL) but higher than controls (P=0.002). Persistent AF patients had a higher CRP (0.34 mg/dL) than paroxysmal AF patients (0.18 mg/dL; P=0.008); both groups had higher CRP levels than controls (P

Subject(s)
Arrhythmias, Cardiac/metabolism , C-Reactive Protein/metabolism , Heart Atria/metabolism , Analysis of Variance , Atrial Fibrillation/metabolism , Case-Control Studies , Female , Heart Atria/physiopathology , Humans , Inflammation/metabolism , Male , Middle Aged
3.
J Interv Card Electrophysiol ; 36(1): 81-6; discussion 86, 2013 Jan.
Article in English | MEDLINE | ID: mdl-22869386

ABSTRACT

INTRODUCTION: Implantation of cardiac resynchronization therapy (CRT) devices is technically challenging and can be limited by lead dislodgement. The Attain Starfix active fixation coronary sinus (CS) lead (model 4195, Medtronic, Minneapolis, MN, USA) was introduced to reduce the rate of lead dislodgement, but the active fixation mechanism presents additional difficulties should these leads require extraction. METHODS: CS lead extraction procedures at our institution from 2003 to 2011 were reviewed. Procedural variables were compared between extraction of the Starfix lead and passive fixation CS leads. Attempts at reimplantation post Starfix lead extraction were examined. RESULTS: Four Starfix CS leads were extracted in four patients during this time period. The mean implant duration was 784 days (range, 392-1,029 days). The indication for extraction was infection in all four cases. Mean total procedure time was 141.5 min (range, 92-205 min). None of the fixation lobes could be retracted in one lead and only the most proximal lobes could be retracted in the remaining three leads. All four leads were removed in their entirety. The excimer laser sheath (Spectranetics Laser Sheath II, Spectranetics Corp., Colorado Springs, CO,USA) was required to remove the lead in all 4 cases (100 %) compared to 25 of 131 (19.1 %) of passive fixation CS lead extractions (mean implant duration, 659 ± 697 days) performed at our institution over the same time period (P < 0.001). In three cases, the laser sheath had to be advanced past the CS ostium to remove the Starfix lead. After extraction, fibrous material which had grown between the lobes of the fixation mechanism was noted in all four cases. No complications occurred. Transvenous CS lead reimplantation was attempted at a median of 7.5 days post extraction in all four patients. The original target branch was occluded in three patients and the main CS in one patient. Reimplantation was successful in another branch of the CS in three of four patients; one underwent minimally invasive epicardial lead placement. CONCLUSIONS: The Starfix active fixation CS lead presents additional procedural complexity and uniform use of excimer laser sheath compared to other CS leads. Reimplantation was not possible in the same venous branch in our experience.


Subject(s)
Cardiac Resynchronization Therapy Devices/adverse effects , Device Removal/methods , Aged , Electrodes, Implanted , Equipment Design , Equipment Failure , Humans , Laser Therapy , Male , Middle Aged , Phlebography , Reoperation
4.
Afr Health Sci ; 12(4): 518-21, 2012 Dec.
Article in English | MEDLINE | ID: mdl-23515280

ABSTRACT

BACKGROUND: Upper gastrointestinal bleeding (UGIB) is a common emergency medical condition that may require hospitalization and resuscitation, and results in high patient morbidity. Upper gastrointestinal endoscopy is the preferred investigative procedure for UGIB because of its accuracy, low rate of complication, and its potential for therapeutic interventions. OBJECTIVE: To determine the endoscopic findings in patients presenting with UGIB and its frequency among these patients according to gender and age in Lacor hospital, northern Uganda. METHODS: The study was carried out at Lacor hospital, located at northern part of Uganda. The record of 224 patients who underwent endoscopy for upper gastrointestinal bleeding over a period of 5 years between January 2006 and December 2010 were retrospectively analyzed. RESULTS: A total of 224 patients had endoscopy for UGIB which consisted of 113 (50.4%) males and 111 (49.6%) females, and the mean age was 42 years ± SD 15.88. The commonest cause of UGIB was esophagealvarices consisting of 40.6%, followed by esophagitis (14.7%), gastritis (12.6%) and peptic ulcer disease (duodenal and gastric ulcers) was 6.2%. The malignant conditions (gastric and esophageal cancers) contributed to 2.6%. Other less frequent causes of UGIB were hiatus hernia (1.8), duodenitis (0.9%), others-gastric polyp (0.4%). Normal endoscopic finding was 16.1% in patients who had UGIB. CONCLUSIONS: Esophageal varices are the commonest cause of upper gastrointestinal bleeding in this environment as compared to the west which is mainly peptic ulcer disease.


Subject(s)
Endoscopy, Gastrointestinal/methods , Gastrointestinal Hemorrhage/diagnosis , Upper Gastrointestinal Tract , Adult , Age Factors , Aged , Endoscopy, Gastrointestinal/adverse effects , Esophageal and Gastric Varices/complications , Esophageal and Gastric Varices/epidemiology , Female , Gastrointestinal Hemorrhage/epidemiology , Gastrointestinal Hemorrhage/etiology , Humans , Male , Middle Aged , Peptic Ulcer/complications , Peptic Ulcer/epidemiology , Prevalence , Retrospective Studies , Risk Factors , Sex Factors , Socioeconomic Factors , Surveys and Questionnaires , Uganda/epidemiology
5.
Heart ; 92(2): 190-5, 2006 Feb.
Article in English | MEDLINE | ID: mdl-15923278

ABSTRACT

OBJECTIVE: To assess prospectively whether preimplantation B-type natriuretic peptide (BNP) and C reactive protein (CRP) concentrations predict future appropriate therapies from an implantable cardioverter-defibrillator (ICD). DESIGN AND SETTING: Prospective cohort study conducted in a tertiary cardiac care centre. METHODS: 345 consecutive patients undergoing first time ICD implantation were prospectively studied. Serum BNP and CRP concentrations were obtained the day before ICD implantation. Patients were followed up with device interrogation to assess for appropriate shocks or antitachycardia pacing. Inappropriate therapies were excluded. Mean (SD) follow up was 13 (5) months. RESULTS: Patients had ischaemic (71%), primary dilated (17%), and valvar or other cardiomyopathies (12%). About half (52%) had ICDs implanted for primary prevention. Sixty three (18%) received appropriate ICD therapies. Serum creatinine, beta blocker, statin, and angiotensin converting enzyme inhibitor usage did not differ between therapy and no therapy groups. By univariate comparison, ejection fraction (p = 0.048), not taking amiodarone (p = 0.033), and BNP concentration (p = 0.0003) were risk factors for ICD therapy. However, by Cox regression multivariate analysis, only BNP above the 50th centile was a significant predictor (hazard ratio 2.19, 95% confidence interval 1.07 to 4.71, p = 0.040). Median BNP was 573 ng/l versus 243 ng/l in therapy and no therapy patients, respectively (p = 0.0003). More patients with BNP above the 50th centile (27% v 10%, p = 0.006) received ICD therapies. CONCLUSIONS: A single preimplantation BNP concentration determination is independently predictive of ICD therapies in patients with cardiomyopathies undergoing first time ICD implantation. CRP was not independently predictive of ICD therapies when compared with BNP.


Subject(s)
Coronary Artery Disease/therapy , Defibrillators, Implantable/statistics & numerical data , Natriuretic Peptide, Brain/blood , Biomarkers/blood , C-Reactive Protein/analysis , Epidemiologic Methods , Female , Humans , Male , Middle Aged
6.
Heart ; 91(10): 1303-5, 2005 Oct.
Article in English | MEDLINE | ID: mdl-15890767

ABSTRACT

BACKGROUND: To test the hypothesis that a high C reactive protein (CRP) concentration would predict recurrence of atrial fibrillation (AF) after cardioversion in patients taking antiarrhythmic drugs. METHODS: 111 patients who underwent direct current cardioversion for symptomatic AF were enrolled. Blood was drawn for CRP determination before cardioversion on the same day. All patients were taking antiarrhythmic drugs before and after electrical cardioversion. RESULTS: After a mean follow up of 76 days, 75 patients had recurrence of AF. In univariate analysis, the median CRP concentration was significantly higher in patients with AF recurrence (3.95 mg/l v 1.81 mg/l, p = 0.002). Among the 55 patients with CRP in the upper 50th centile, 44 (80%) experienced recurrence of AF over a total follow up of 8.98 patient years, whereas among the 56 patients with CRP in the lower 50th centile, 31 (55%) experienced recurrence of AF over a total follow up of 14.3 patient years (p < 0.001). The adjusted hazard ratio comparing the upper 50th centile of CRP with the lower 50th centile of CRP was 2.0 (95% confidence interval 1.2 to 3.2, p = 0.007). CONCLUSIONS: CRP is independently associated with recurrence of AF after electrical cardioversion among patients taking antiarrhythmic drugs. These results suggest that inflammation may have a role in the pathogenesis of AF resistant to antiarrhythmic drugs.


Subject(s)
Atrial Fibrillation/therapy , C-Reactive Protein/metabolism , Electric Countershock/methods , Aged , Atrial Fibrillation/blood , Biomarkers/blood , Female , Follow-Up Studies , Humans , Male , Recurrence , Regression Analysis
7.
Epidemiology ; 11(3): 255-60, 2000 May.
Article in English | MEDLINE | ID: mdl-10784240

ABSTRACT

In this paper, we describe an exact method for estimating a common relative risk across different epidemiologic study designs. The types of studies allowed by the method include case-control studies, follow-up studies with an internal comparison group, and follow-up studies with an external comparison group. Because the method is exact, sparseness of individual studies is not an issue. Those wishing to perform a meta-analysis of case-control studies and follow-up studies in which both the exposure and outcome are rare will find the method particularly useful. To allow one to perform the computations efficiently, we present a partial polynomial multiplication algorithm. We also describe a public-domain computer program that performs the necessary calculations.


Subject(s)
Case-Control Studies , Follow-Up Studies , Meta-Analysis as Topic , Humans
8.
Epidemiology ; 7(1): 29-33, 1996 Jan.
Article in English | MEDLINE | ID: mdl-8664397

ABSTRACT

The incidence rate ratio is a basic measure of association in epidemiology. We present a simple and efficient method for computing exact confidence limits for the common rate ratio in a series of 2 x 2 tables with person-time denominators. The method uses a polynomial multiplication (convolution) algorithm previously described for an odds ratio. We also present two tests, one asymptotic, the other exact, for evaluating rate ratio homogeneity. We extend these homogeneity tests to apply to data where strata have been partitioned into subgroups in which the rate ratio is assumed homogeneous within subgroups, but not necessarily between them. We conclude with a brief description of a microcomputer program that computes exact and asymptotic estimates for both a rate ratio and an odds ratio.


Subject(s)
Algorithms , Confidence Intervals , Incidence , Models, Statistical , Microcomputers , Odds Ratio , Software
9.
Stat Med ; 16(9): 1005-15, 1997 May 15.
Article in English | MEDLINE | ID: mdl-9160495

ABSTRACT

Meta-analysis is the quantitative technique of combining results from different studies. There is a variety of procedures available for combining effect measures across epidemiologic studies. None of these methods provides an overall effect estimate when the data are sparse within studies and come from different study designs. In this paper we discuss the statistical relations between case-control studies and two types of follow-up studies. We use these relations to develop an exact methodology for combining results across study designs. We also use these relations to derive Mantel-Haenszel type formulae for summarizing results across studies. We illustrate these techniques with data pertaining to breast implants and connective tissue disease.


Subject(s)
Meta-Analysis as Topic , Statistics as Topic/methods , Breast Implants/statistics & numerical data , Case-Control Studies , Confidence Intervals , Connective Tissue Diseases/epidemiology , Follow-Up Studies , Humans , Likelihood Functions , Models, Statistical , Probability Theory , Risk
10.
Ann Intern Med ; 129(12): 1020-6, 1998 Dec 15.
Article in English | MEDLINE | ID: mdl-9867756

ABSTRACT

BACKGROUND: Death certificates are widely used in epidemiologic and clinical investigations and for national statistics. OBJECTIVE: To examine the accuracy of death certificates for coding coronary heart disease as the underlying cause of death. DESIGN: Community-based inception cohort followed since 1948. SETTING: Framingham, Massachusetts. PATIENTS: 2683 deceased Framingham Heart Study participants. MEASUREMENTS: Sensitivity, specificity, and predictive values of the death certificate. The reference standard was cause of death adjudicated by a panel of three physicians. RESULTS: Among 2683 decedents, the death certificate coded coronary heart disease as the underlying cause of death for 942; the physician panel assigned coronary heart disease for 758. The death certificate had a sensitivity of 83.8% (95% CI, 81.1 % to 86.4%), positive predictive value of 67.4% (CI, 64.4% to 70.4%), specificity of 84.1% (CI, 82.4% to 85.7%), and negative predictive value of 92.9% (CI, 91.7% to 94.1%) for coronary heart disease. The death certificate assigned coronary heart disease in 51.2% of 242 deaths (9.0% of total deaths) for which the physician panel could not determine a cause. Compared with the physician panel, the death certificate attributed 24.3% more deaths to coronary heart disease overall and more than twice as many deaths to coronary heart disease in decedents who were at least 85 years of age. When deaths that were assigned unknown cause by the physician panel were excluded, the death certificate still assigned more deaths to coronary heart disease (7.9% overall and 43.1% in the oldest age group). CONCLUSIONS: Coronary heart disease may be overrepresented as a cause of death on death certificates. National mortality statistics, which are based on death certificate data, may overestimate the frequency of coronary heart disease by 7.9% to 24.3% overall and by as much as two-fold in older persons.


Subject(s)
Coronary Disease/mortality , Death Certificates , Epidemiologic Methods , Adult , Age Factors , Aged , Aged, 80 and over , Cause of Death , Coronary Disease/diagnosis , Coronary Disease/epidemiology , Female , Humans , Male , Middle Aged , Predictive Value of Tests , Prevalence , Reference Standards , Regression Analysis , Sensitivity and Specificity , Sex Factors , United States/epidemiology
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