scholarly journals Affected Twins in the Familial Intracranial Aneurysm Study

2015 ◽  
Vol 39 (2) ◽  
pp. 82-86 ◽  
Author(s):  
Jason Mackey ◽  
Robert D. Brown ◽  
Laura Sauerbeck ◽  
Richard Hornung ◽  
Charles J. Moomaw ◽  
...  

Background and Purpose: Very few cases of intracranial aneurysms (IAs) in twins have been reported. Previous work has suggested that vulnerability to IA formation is heritable. Twin studies provide an opportunity to evaluate the impact of genetics on IA characteristics, including IA location. We therefore sought to examine IA location concordance, multiplicity, and rupture status within affected twin-pairs. Methods: The Familial Intracranial Aneurysm study was a multicenter study whose goal was to identify genetic and other risk factors for formation and rupture of IAs. The study required at least three affected family members or an affected sibling pair for inclusion. Subjects with fusiform aneurysms, an IA associated with an AVM, or a family history of conditions known to predispose to IA formation, such as polycystic kidney disease, Ehlers-Danlos syndrome, Marfan syndrome, fibromuscular dysplasia, or moyamoya syndrome were excluded. Twin-pairs were identified by birth date and were classified as monozygotic (MZ) or dizygotic (DZ) through DNA marker genotypes. In addition to zygosity, we evaluated twin-pairs by smoking status, major arterial territory of IAs, and rupture status. Location concordance was defined as the presence of an IA in the same arterial distribution (ICA, MCA, ACA, and vertebrobasilar), irrespective of laterality, in both members of a twin-pair. The Fisher exact test was used for comparisons between MZ and DZ twin-pairs. Results: A total of 16 affected twin-pairs were identified. Location concordance was observed in 8 of 11 MZ twin-pairs but in only 1 of 5 DZ twin-pairs (p = 0.08). Three MZ subjects had unknown IA locations and comprised the three instances of MZ discordance. Six of the 11 MZ twin-pairs and none of the 5 DZ twin-pairs had IAs in the ICA distribution (p = 0.03). Multiple IAs were observed in 11 of 22 MZ and 5 of 10 DZ twin-pairs. Thirteen (13) of the 32 subjects had an IA rupture, including 10 of 22 MZ twins. Conclusions: We found that arterial location concordance was greater in MZ than DZ twins, which suggests a genetic influence upon aneurysm location. The 16 twin-pairs in the present study are nearly the total of affected twin-pairs that have been reported in the literature to date. Further studies are needed to determine the impact of genetics in the formation and rupture of IAs.

2009 ◽  
Vol 95 (1) ◽  
pp. 6-12
Author(s):  
Kusuma Madamala ◽  
Claudia R. Campbell ◽  
Edbert B. Hsu ◽  
Yu-Hsiang Hsieh ◽  
James James

ABSTRACT Introduction: On Aug. 29, 2005, Hurricane Katrina made landfall along the Gulf Coast of the United States, resulting in the evacuation of more than 1.5 million people, including nearly 6000 physicians. This article examines the relocation patterns of physicians following the storm, determines the impact that the disaster had on their lives and practices, and identifies lessons learned. Methods: An Internet-based survey was conducted among licensed physicians reporting addresses within Federal Emergency Management Agency-designated disaster zones in Louisiana and Mississippi. Descriptive data analysis was used to describe respondent characteristics. Multivariate logistic regression was performed to identify the factors associated with physician nonreturn to original practice. For those remaining relocated out of state, bivariate analysis with x2 or Fisher exact test was used to determine factors associated with plans to return to original practice. Results: A total of 312 eligible responses were collected. Among disaster zone respondents, 85.6 percent lived in Louisiana and 14.4 percent resided in Mississippi before the hurricane struck. By spring 2006, 75.6 percent (n = 236) of the respondents had returned to their original homes, whereas 24.4 percent (n = 76) remained displaced. Factors associated with nonreturn to original employment included family or general medicine practice (OR 0.42, 95 percent CI 0.17–1.04; P = .059) and severe or complete damage to the workplace (OR 0.24, 95 percent CI 0.13–0.42; P < .001). Conclusions: A sizeable proportion of physicians remain displaced after Hurricane Katrina, along with a lasting decrease in the number of physicians serving in the areas affected by the disaster. Programs designed to address identified physician needs in the aftermath of the storm may give confidence to displaced physicians to return.


2019 ◽  
Vol 28 (1) ◽  
pp. 57-62 ◽  
Author(s):  
Rima Irwinda ◽  
Budi Iman Santoso ◽  
Raymond Surya ◽  
Lidia Firmiaty Nembo

BACKGROUND Pregnancy-induced hypertension (PIH) causes high maternal morbidity and mortality worldwide. This study aims to assess the impact of PIH on fetal growth according to gestational age in preterm deliveries.METHODS A prospective cohort study using secondary data was undertaken in Ende District, East Nusa Tenggara, Indonesia from September 2014 to August 2015. The t-test was performed to compare mean birth weight based on gestational week between normotensive and PIH women, continued by linear regression. The chi-square or Fisher exact test was also conducted to determine the probability of birthing small for the gestational age (SGA) and large for gestational age (LGA) babies between normotensive and PIH women.RESULTS A total of 1,673 deliveries were recorded in Ende Hospital over the 1-year study period, among which 182 cases involved preterm births. The PIH group had lower birth weight than normotensive women at each gestational age starting from 32–35 weeks (p=0.004; 95% CI 150.84–771.36). Normotensive women at gestational ages of 32 (p=0.05; 95% CI 0.01–0.83), 34 (p=0.37; 95% CI 0.01–4.12), and 36 (p=0.31; 95% CI 0.02–2.95) weeks had a lower risk of birthing SGA babies than PIH women; LGA babies were recorded at gestational ages of 33 (p=1.00; 95% CI 0.07–37.73) and 35 (p=0.31; 95% CI 0.34–63.07) weeks.CONCLUSIONS Poor perfusion of the uteroplacental is one of the reasons behind intrauterine growth restriction, which results in SGA babies born to PIH women.


2020 ◽  
pp. 1187-1195
Author(s):  
Brandon J. Diessner ◽  
Nathan Pankratz ◽  
Anthony J. Hooten ◽  
Lisa Mirabello ◽  
Aaron L. Sarver ◽  
...  

PURPOSE To ascertain the prevalence of recurrent de novo variants among 240 pediatric patients with osteosarcoma (OS; age < 20 years) unselected for family history of cancer. METHODS The identification of de novo variants was implemented in 2 phases. In the first, we identified genes with a rare (minor allele frequency < 0.01) de novo variant in > 1 of the 95 case-parent trios examined by whole-exome sequencing (WES) who passed quality control measures. In phase 2, 145 additional patients with OS were evaluated by targeted sequencing to identify rare de novo variants in genes nominated from phase 1. Recurrent rare variants identified from phase 1 and 2 were verified as either de novo or inherited by Sanger sequencing of affected patients and their parents. Categorical and continuous data were analyzed using Fisher exact test and t tests, respectively. RESULTS Among 95 case-parent trios who underwent WES, we observed 61 de novo variants in 60 genes among 47 patients, with TP53 identified as the only gene with a pathogenic or likely pathogenic (P/LP) de novo variant in more than one case-parent trio. Among all 240 patients with OS, 13 (5.4%) harbored a P/LP TP53 germline variant, of which 6 (46.2%) were confirmed to be de novo. CONCLUSION Apart from TP53, we did not observe any other recurrent de novo P/LP variants in the case-parent trios, suggesting that new mutations in other genes are not a frequent cause of pediatric OS. That nearly half of P/LP TP53 variants in our sample were de novo suggests universal screening for germline TP53 P/LP variants among pediatric patients with OS should be considered.


2017 ◽  
Vol 54 (1) ◽  
pp. 90-93 ◽  
Author(s):  
Elizabeth J. Leslie ◽  
Jenna C. Carlson ◽  
Margaret E. Cooper ◽  
Kaare Christensen ◽  
Seth M. Weinberg ◽  
...  

Objective Monozygotic twins of an individual with an orofacial cleft have a significantly elevated risk for orofacial cleft compared with the general population, but still the concordance rate for orofacial cleft in monozygotic twins is about 40% to 50%. The goal of this study was to determine whether unaffected cotwins have an increased frequency of orbicularis oris muscle defects, a subclinical form of orofacial cleft. The presence of such defects may reduce the overall rate of discordance. Method A total of 63 discordant monozygotic and dizygotic twin pairs, 262 unaffected nontwin siblings, and 543 controls with no history of orofacial clefts were assessed for orbicularis oris defects by high-resolution ultrasound. Frequencies were compared by the Fisher exact test. Results Unaffected cotwins from discordant monozygotic pairs had a higher frequency of defects (12.5%) than the other test groups (6.38% to 6.99%), but the difference was not statistically significant ( P = .74). Conclusions In this study, orbicularis oris defects were not statistically significantly more common among the unaffected twins from orofacial cleft discordant twin pairs. The trends in the results warrant future studies with larger sample sizes and additional subclinical phenotypes.


2020 ◽  
Vol 29 (2) ◽  
pp. e39-e43
Author(s):  
Sikandar H. Khan ◽  
Chenjia Xu ◽  
Sophia Wang ◽  
Sujuan Gao ◽  
Sue Lasiter ◽  
...  

Background The effect of delirium on physical function in patients undergoing noncardiac thoracic surgery has not been well described and may differ from that in other surgical populations. Objective To determine the effects of delirium on muscle strength and functional independence. The primary end point was change in Medical Research Council sum score (MRC-SS) by delirium status. Methods A secondary analysis of data from a clinical trial involving English-speaking adults aged 18 years or older who were undergoing major noncardiac thoracic surgery. Exclusion criteria were history of schizophrenia, Parkinson disease, dementia, alcohol abuse, or neuroleptic malignant syndrome; haloperidol allergy; being pregnant or nursing; QT prolongation; and taking levodopa or cholinesterase inhibitors. Delirium was assessed twice daily using the Confusion Assessment Method for the Intensive Care Unit. Preoperatively and postoperatively, muscle strength was assessed using the modified MRC-SS and functional independence was assessed using the Katz scale of activities of daily living. Changes in MRC-SS and Katz score by delirium status were analyzed using the Fisher exact test. Results Seventy-three patients were included in the analysis. Median (interquartile range) MRC-SS and Katz score before surgery did not differ significantly between patients without and with delirium (MRC-SS: 30 [30-30] vs 30 [30-30], P &gt; .99; Katz score: 6 [6-6] vs 6 [6-6], P = .63). The percentage of patients with a change in MRC-SS was similar in patients without and with delirium (17% vs 13%, respectively; P &gt; .99). More patients in the delirium group had a change in Katz score (13% vs 0%, P = .04). Conclusions Postoperative delirium was not associated with change in muscle strength. Follow-up studies using other muscle measures may be needed.


2017 ◽  
Vol 35 (8_suppl) ◽  
pp. 62-62
Author(s):  
Anitha Srinivasan ◽  
Judith Zwillenberg ◽  
Anisha Chadda ◽  
Hannah Gissel ◽  
Michael Lettera ◽  
...  

62 Background: Mammography screening is crucial for cancer detection. Screening rates have been declining in patients of low socioeconomic status and minorities, supporting the need for intervention at our safety-net hospital. Methods: Patients with a primary care provider order for screening mammograms over a one month period were monitored for 90 day compliance. This analysis determined compliance rate and optimal intervention period. A prospective randomized trial was done to improve compliance using a volunteer patient navigator. All patients received educational material and were randomly assigned to the control or intervention group. The latter were further educated on breast cancer and mammograms and, if amenable, were escorted to a walk-in mammogram. The study period was 3 weeks with 49 participants-24 patients in the control and 25 patients in the intervention group. The principal outcome was the 14 day mammography compliance rate. Secondary analysis examined efficacy of the study with respect to patient demographics, prior mammography compliance, family history of cancer, beliefs on mammography and past medical history and analyzed using GraphPad Prism 7. Results: Analysis revealed a noncompliance rate of 52% with majority compliance occurring within two weeks of order placement. The patient navigation intervention significantly improved compliance by 34% (42% in the control group, 76% in the intervention group, p < 0.05 Fisher exact test). Intervention significantly improved compliance in patients with low susceptibility to cancer belief, who understood benefits of mammography and early diagnosis (p < 0.05 Fisher exact test), had a prior mammogram (p < 0.05 Fisher exact test), a family history of cancer (p < 0.01 Fisher exact test), hyperlipidemia (p < 0.05 Fisher exact test), and those employed (p < 0.05 Fisher exact test). Conclusions: A system to monitor compliance and intervene using patient navigation significantly improved mammography compliance of patients in a safety net urban hospital. The relatively straightforward design of the volunteer based intervention makes it affordable, easily replicable and perhaps beneficial at other institutions.


2012 ◽  
Vol 30 (15) ◽  
pp. 1871-1878 ◽  
Author(s):  
Jeffrey C. Bassett ◽  
John L. Gore ◽  
Amanda C. Chi ◽  
Lorna Kwan ◽  
William McCarthy ◽  
...  

Purpose Bladder cancer is the second most common tobacco-related malignancy. A new bladder cancer diagnosis may be an opportunity to imprint smoking cessation. Little is known about the impact of a diagnosis of bladder cancer on patterns of tobacco use and smoking cessation among patients with incident bladder cancer. Patients and Methods A simple random sample of noninvasive bladder cancer survivors diagnosed in 2006 was obtained from the California Cancer Registry. Respondents completed a survey on history of tobacco use, beliefs regarding bladder cancer risk factors, and physician influence on tobacco cessation. Respondents were compared by smoking status. Those respondents smoking at diagnosis were compared with general population controls obtained from the California Tobacco Survey to determine the impact of a diagnosis of bladder cancer on patterns of tobacco use. Results The response rate was 70% (344 of 492 eligible participants). Most respondents (74%) had a history of cigarette use. Seventeen percent of all respondents were smoking at diagnosis. Smokers with a new diagnosis of bladder cancer were almost five times as likely to quit smoking as smokers in the general population (48% v 10%, respectively; P < .001). The bladder cancer diagnosis and the advice of the urologist were the reasons cited most often for cessation. Respondents were more likely to endorse smoking as a risk factor for bladder cancer when the urologist was the source of their understanding. Conclusion The diagnosis of bladder cancer is an opportunity for smoking cessation. Urologists can play an integral role in affecting the patterns of tobacco use of those newly diagnosed.


2011 ◽  
Vol 115 (6) ◽  
pp. 1126-1130 ◽  
Author(s):  
Nicola Montano ◽  
Quintino Giorgio D'Alessandris ◽  
Federico Bianchi ◽  
Liverana Lauretti ◽  
Francesco Doglietto ◽  
...  

Object Communicating hydrocephalus is an uncommon complication in patients treated for glioblastoma multiforme (GBM). Its pathogenesis remains unclear. The authors evaluated the clinical and radiological factors associated with the onset of communicating hydrocephalus and the impact of ventriculoperitoneal (VP) shunt surgery on the outcome of these patients. Methods One hundred twenty-four patients harboring GBM, who had undergone craniotomy for tumor resection and adjuvant radiochemotherapy, were retrospectively assessed. Seven of them developed communicating hydrocephalus and were treated with VP shunt surgery. Clinical and radiological estimates included Karnofsky Performance Scale (KPS) score, previous surgery, overall survival (OS), CSF pressure and components, tumor location, and leptomeningeal dissemination. Results All 7 patients who developed communicating hydrocephalus had undergone at least 2 craniotomies for tumor resection before the onset of hydrocephalus (p = 0.0006; Fisher exact test). Six cases showed high levels of CSF proteins. There was a highly significant relationship between ventricular opening at surgery for tumor recurrence and onset of hydrocephalus (p = 0.0002; Fisher exact test). In these patients, VP shunt surgery was followed by a significant improvement of KPS score (p = 0.0180; Wilcoxon signed-rank test). The median OS after VP shunt insertion was 5 ± 2.9 months. Conclusions Ventricular opening after radiochemotherapy and high CSF protein levels are significant predictors of communicating hydrocephalus in patients with GBM. The VP shunt surgery improves quality of life in these patients.


2007 ◽  
Vol 1 (1) ◽  
pp. 21-26 ◽  
Author(s):  
Kusuma Madamala ◽  
Claudia R. Campbell ◽  
Edbert B. Hsu ◽  
Yu-Hsiang Hsieh ◽  
James James

ABSTRACTIntroduction: On August 29, 2005, Hurricane Katrina made landfall along the US Gulf Coast, resulting in the evacuation of >1.5 million people, including nearly 6000 physicians. This article examines the relocation patterns of physicians following the storm, determines the impact that the disaster had on their lives and practices, and identifies lessons learned.Methods: An Internet-based survey was conducted among licensed physicians reporting addresses within Federal Emergency Management Agency–designated disaster zones in Louisiana and Mississippi. Descriptive data analysis was used to describe respondent characteristics. Multivariate logistic regression was performed to identify the factors associated with physician nonreturn to original practice. For those remaining relocated out of state, bivariate analysis with χ2 or Fisher exact test was used to determine factors associated with plans to return to original practice.Results: A total of 312 eligible responses were collected. Among disaster zone respondents, 85.6% lived in Louisiana and 14.4% resided in Mississippi before the hurricane struck. By spring 2006, 75.6% (n = 236) of the respondents had returned to their original homes, whereas 24.4% (n = 76) remained displaced. Factors associated with nonreturn to original employment included family or general medicine practice (OR 0.42, 95% CI 0.17–1.04; P = .059) and severe or complete damage to the workplace (OR 0.24, 95% CI 0.13–0.42; P < .001).Conclusions: A sizeable proportion of physicians remain displaced after Hurricane Katrina, along with a lasting decrease in the number of physicians serving in the areas affected by the disaster. Programs designed to address identified physician needs in the aftermath of the storm may give confidence to displaced physicians to return. (Disaster Med Public Health Preparedness. 2007;1:21–26)


2021 ◽  
Vol 8 (1) ◽  
pp. 14-20
Author(s):  
Hira Butt ◽  
Nauman Khan ◽  
Khadija Amjad ◽  
Fatima Hafeez ◽  
Fizza Tahir ◽  
...  

OBJECTIVES: To compare the impact of traditional classroom-based teaching versus online teaching on the academics and attendance of male as compared to female students  METHODOLOGY: A study was conducted on 51 third year BDS students, College of Dentistry, Sharif Medical and Dental College, Lahore. An aggregate of the scores based on weightage assigned to each test for all the assessments conducted in the regular session and online session was formulated. The attendance record of the months taught in both the sessions was also taken as percentages. Fisher Exact test was used to find the statistical association between the level of academic performance as well as attendance in the regular session and online session with gender of the students. Man Whitney U test was used to find the statistical difference in the scores of assessments in the regular as well as online session of male and female students. RESULTS: There was a significant association between gender and academic performance in the online session (p=0.002).  Gender and academic performance of students during the traditional classroom-based teaching session had a significant association (p=0.001). The attendance of male and female students was found to be significantly associated with the online teaching system (p=0.009).   CONCLUSION: It was observed that females had an overall better academic performance in the online teaching as well as traditional classroom-based teaching system. A similar trend was observed in attendance also, where the females had better attendance record in online and traditional classroom-based teaching set up.    


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