scholarly journals Clinical and genetic characteristics of juvenile myoclonic epilepsy

2021 ◽  
Vol 1 (2) ◽  
pp. 95-105
Author(s):  
O. S. Shilkina ◽  
S. N. Zobova ◽  
E. A. Domoratskaya ◽  
D. V. Dmitrenko
Keyword(s):  
Risk Factors ◽  
Risk Factor ◽  
High Risk ◽  
Genetic Risk ◽  
Juvenile Myoclonic Epilepsy ◽  
Myoclonic Epilepsy ◽  
Drug Reactions ◽  
Dna Diagnostics ◽  
Genetic Characteristics ◽  
Study Population

Juvenile myoclonic epilepsy (JME) is reported as a clinically and genetically heterogeneous disease with a high risk of inheritance. The aim of the study was to establish phenotype features and genetic risk factors for juvenile myoclonic epilepsy to advance existing approaches of prevention, treatment, and observation of patients with JME. Methods: anamnestic; clinical; neurophysiological (EEG); neuroradiological (MRI), neuropsychological; laboratory (DNA-diagnostics). JME starts with absences more frequently in females as compared to males (32.0% vs. 15.4%), and with GTCS and myoclonic in males as compared to females (46.2% and 36.5% vs. 36.0% and 31.2%, respectively). The 1st phenotype of JME was more frequently encountered in male individuals in comparison with female ones (55.8% vs. 34.7%), and the 2nd phenotype was more frequently encountered in female individuals in comparison with male ones (16.9% vs. 5.8%). Homozygous carriage of the T allele of the GJD2 gene (rs3743123) was associated with the development of JME in the study population, OR = 2.66 (95% CI 1.24 to 5.74). 41.5% of patients with JME have a slow metabolizer pharmacogenetic status, which is a risk factor for pseudo-pharmacoresistance and the development of adverse drug reactions.

scholarly journals Proposal for the use of echocardiography in bloodstream infections due to different streptococcal species

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Sandra Chamat-Hedemand ◽  
Niels Eske Bruun ◽  
Lauge Østergaard ◽  
Magnus Arpi ◽  
Emil Fosbøl ◽  
...  
Keyword(s):  
Risk Factors ◽  
Risk Factor ◽  
High Risk ◽  
Blood Culture ◽  
Positive Blood Culture ◽  
Bloodstream Infections ◽  
Low Risk ◽  
Moderate Risk ◽  
Streptococcal Species ◽  
Very High

Abstract Background Infective endocarditis (IE) is diagnosed in 7–8% of streptococcal bloodstream infections (BSIs), yet it is unclear when to perform transthoracic (TTE) and transoesophageal echocardiography (TOE) according to different streptococcal species. The aim of this sub-study was to propose a flowchart for the use of echocardiography in streptococcal BSIs. Methods In a population-based setup, we investigated all patients admitted with streptococcal BSIs and crosslinked data with nationwide registries to identify comorbidities and concomitant hospitalization with IE. Streptococcal species were divided in four groups based on the crude risk of being diagnosed with IE (low-risk < 3%, moderate-risk 3–10%, high-risk 10–30% and very high-risk > 30%). Based on number of positive blood culture (BC) bottles and IE risk factors (prosthetic valve, previous IE, native valve disease, and cardiac device), we further stratified cases according to probability of concomitant IE diagnosis to create a flowchart suggesting TTE plus TOE (IE > 10%), TTE (IE 3–10%), or “wait & see” (IE < 3%). Results We included 6393 cases with streptococcal BSIs (mean age 68.1 years [SD 16.2], 52.8% men). BSIs with low-risk streptococci (S. pneumoniae, S. pyogenes, S. intermedius) are not initially recommended echocardiography, unless they have ≥3 positive BC bottles and an IE risk factor. Moderate-risk streptococci (S. agalactiae, S. anginosus, S. constellatus, S. dysgalactiae, S. salivarius, S. thermophilus) are guided to “wait & see” strategy if they neither have a risk factor nor ≥3 positive BC bottles, while a TTE is recommended if they have either ≥3 positive BC bottles or a risk factor. Further, a TTE and TOE are recommended if they present with both. High-risk streptococci (S. mitis/oralis, S. parasanguinis, G. adiacens) are directed to a TTE if they neither have a risk factor nor ≥3 positive BC bottles, but to TTE and TOE if they have either ≥3 positive BC bottles or a risk factor. Very high-risk streptococci (S. gordonii, S. gallolyticus, S. mutans, S. sanguinis) are guided directly to TTE and TOE due to a high baseline IE prevalence. Conclusion In addition to the clinical picture, this flowchart based on streptococcal species, number of positive blood culture bottles, and risk factors, can help guide the use of echocardiography in streptococcal bloodstream infections. Since echocardiography results are not available the findings should be confirmed prospectively with the use of systematic echocardiography.

scholarly journals Intensive Multiagent Therapy, Including Dose-Compressed Cycles of Ifosfamide/Etoposide and Vincristine/Doxorubicin/Cyclophosphamide, Irinotecan, and Radiation, in Patients With High-Risk Rhabdomyosarcoma: A Report From the Children's Oncology Group

2016 ◽  
Vol 34 (2) ◽  
pp. 117-122 ◽  
Author(s):  
Brenda J. Weigel ◽  
Elizabeth Lyden ◽  
James R. Anderson ◽  
William H. Meyer ◽  
David M. Parham ◽  
...  
Keyword(s):  
Risk Factors ◽  
Risk Factor ◽  
High Risk ◽  
Bone Marrow Involvement ◽  
High Risk Group ◽  
Historical Cohort ◽  
Dismal Prognosis ◽  
Risk Patients ◽  
Metastatic Sites

Purpose Patients with metastatic rhabdomyosarcoma (RMS), except those younger than 10 years with embryonal RMS, have an estimated long-term event-free survival (EFS) of less than 20%. The main goal of this study was to improve outcome of patients with metastatic RMS by dose intensification with interval compression, use of the most active agents determined in phase II window studies, and use of irinotecan as a radiation sensitizer. Patients and Methods Patients with metastatic RMS received 54 weeks of therapy: blocks of therapy with vincristine/irinotecan (weeks 1 to 6, 20 to 25, and 47 to 52), interval compression with vincristine/doxorubicin/cyclophosphamide alternating with etoposide/ifosfamide (weeks 7 to 19 and 26 to 34), and vincristine/dactinomycin/cyclophosphamide (weeks 38 to 46). Radiation therapy occurred at weeks 20 to 25 (primary) but was also permitted at weeks 1 to 6 (for intracranial or paraspinal extension) and weeks 47 to 52 (for extensive metastatic sites). Results One hundred nine eligible patients were enrolled, with a median follow-up of surviving patients of 3.8 years (3-year EFS for all patients, 38% [95% CI, 29% to 48%]; survival, 56% [95% CI, 46% to 66%]). Patients with one or no Oberlin risk factor (age > 10 years or < 1 year, unfavorable primary site of disease, ≥ three metastatic sites, and bone or bone marrow involvement) had a 3-year EFS of 69% (95% CI, 52% to 82%); high-risk patients with two or more risk factors had a 3-year EFS of 20% (95% CI, 11% to 30%). Toxicity was similar to that on prior RMS studies. Conclusion Patients with metastatic RMS with one or no Oberlin risk factor had an improved 3-year EFS of 69% on ARST0431 compared with an historical cohort from pooled European and US studies; those with two or more risk factors have a dismal prognosis, and new approaches are needed for this very-high-risk group.

Abstract 18634: Favorable Cardiovascular Health and the Compression of Morbidity: Findings From the Chicago Heart Detection Project in Industry Study

Circulation ◽  
2015 ◽  
Vol 132 (suppl_3) ◽  
Author(s):  
Norrina B Allen ◽  
Lihui Zhao ◽  
Lei Liu ◽  
Martha Daviglus ◽  
Kiang Liu ◽  
...  
Keyword(s):  
Risk Factors ◽  
Risk Factor ◽  
High Risk ◽  
Healthcare Costs ◽  
Cardiovascular Health ◽  
Heart Association ◽  
Baseline Risk ◽  
Compression Of Morbidity ◽  
High Risk Factors ◽  
Morbidity Score

Introduction: We sought to determine the association of CV health at younger ages with the proportion of life lived free of morbidity, the cumulative burden of morbidity, and average healthcare costs at older ages. Methods: The Chicago Heart Association (CHA) study is a longitudinal cohort of employed men and women aged 18-59 years at baseline exam in 1967-1973. Baseline risk factor levels included blood pressure, cholesterol, diabetes, BMI and smoking. Individuals were classified into one of four strata: favorable levels of all factors, 0 factors high but 1+ elevated, 1 high, and ≥2 high risk factors. Linked CMS/NDI data from 1984-2010 were used to determine morbidity in older age providing up to 40 years of follow-up. We included participants who were age 65+ between 1984 and 2010 and enrolled in Medicare FFS. All-cause morbidity was defined using the Gagne score. A CV morbidity score was defined as the sum of 4 CVDs including CHD (includes MI), PVD, cerebrovascular disease and CHF. Results: We included 25,390 participants (43% female, 90% White, mean age 44 at baseline); 6% had favorable levels, 19% had 1+ risk factors at elevated levels, 40% had 1 high risk factor and 35% had 2+ high risk factors. As compared to those with 2+ high risk factors, favorable CV health had lower levels of all-cause and CV morbidity from age 65-90 years, and a lower cumulative morbidity burden (p<0.001) translating to lower average annual healthcare costs ($15,905 vs $20,791 per year, p<0.001). Favorable CV health postponed the onset of all-cause morbidity by 4.5 years, the onset of CV morbidity by almost 7 years and extended life by almost 4 years resulting in a compression of morbidity on both the absolute and relative scale (see figure). Conclusion: Individuals in favorable CV health live a longer, healthier life and a greater proportion of life free of morbidity. These findings provide support for prevention efforts aimed at preserving cardiovascular health and reducing the burden of disease in older ages.

Haemostatic Genetic Risk Factors in Arterial Thrombosis

2001 ◽  
Vol 86 (07) ◽  
pp. 374-385 ◽  
Author(s):  
Rachel Simmonds ◽  
José Hermida ◽  
Suely Rezende ◽  
David Lane
Keyword(s):  
Risk Factors ◽  
Risk Factor ◽  
Genetic Polymorphism ◽  
Genetic Risk ◽  
Arterial Thrombosis ◽  
Membrane Glycoprotein ◽  
Thrombotic Disease ◽  
Integral Role ◽  
Technical Simplicity ◽  
Digital Nature

SummaryHaemostasis plays an integral role in arterial thrombotic disease. However, establishing which of the factors are risk factors has proven surprisingly difficult. Because of its technical simplicity and digital nature, the study of haemostatic polymorphisms as risk factors has grown in popularity. Once established as a risk factor, a genetic polymorphism has the potential to aid selective prophylaxis and therapy of disease. Numerous reports have now been published on polymorphisms of coagulation and fibrinolytic factors, of coagulation and fibrinolytic inhibitory proteins, and of platelet membrane glycoprotein receptors. This article describes the polymorphisms and evaluates the results of these studies using the premises of consistency of within-report genotype/phenotype/disease relationships and consistency of outcome between studies. Many studies have been only of association between polymorphisms and disease, a type of study that is prone to error. Furthermore, the collective outcome of these studies has primarily been inconsistent. It is concluded that despite the early promise of polymorphisms as risk factors, fresh approaches differing in scale and design are now required to clarify their possible importance.

Estimation of risk factors associated with difficult birth in ewes

2018 ◽  
Vol 58 (6) ◽  
pp. 1125 ◽  
Author(s):  
B. J. Horton ◽  
R. Corkrey ◽  
G. N. Hinch
Keyword(s):  
Risk Factors ◽  
Risk Factor ◽  
High Risk ◽  
Litter Size ◽  
Low Birthweight ◽  
Condition Score ◽  
Cause Of Deaths ◽  
Ease Score ◽  
Very High ◽  
Australian Merino

In eight closely recorded Australian Merino and crossbred sheep flocks, all lamb deaths were examined and the cause of deaths identified if possible. Dystocia was identified as one of the major causes of lamb death and this study examined factors that could be used to identify ewes at high risk of dystocia, either to avoid dystocia or to assist with early intervention where possible. Dystocia was least common in lambs of ~4.8 kg, but there was a higher risk at both lower and higher birthweights. Dystocia with both low and high birthweight was more common in older ewes, ranging from negligible low birthweight dystocia in ewes less than 3 years old at lambing, to 5% in older ewes. Low birthweight dystocia increased with increasing litter size, with 40% dystocia in ewes at least 4 years of age with triplets. In contrast, high birthweight dystocia was not affected by litter size. A previous record of low birthweight dystocia was a risk factor for future low birthweight dystocia, but the same relationship was not observed for high birthweight dystocia. A high lambing ease score (difficult birth) with high birthweight was a risk factor for future high birthweight dystocia, but this was not the case for low birthweight dystocia. These differences between the risk factors for low and high birthweight dystocia suggest that they have different causes. High ewe liveweight and condition score during pregnancy may be additional indicators of the risk of dystocia, particularly for ewes with high liveweight in the first 60 days of pregnancy. For most ewes dystocia was difficult to predict, but there was a small proportion of ewes with a very high risk of dystocia and if these could be identified in advance they could be monitored much more closely than the rest of the flock.

scholarly journals Predictors for the Immediate and Long-Term Outcome of Avascular Surgical Procedure

2009 ◽  
Vol 98 (3) ◽  
pp. 164-168 ◽  
Author(s):  
J. Virkkunen ◽  
M. Venermo ◽  
J. Saarinen ◽  
J. Salenius
Keyword(s):  
Risk Factors ◽  
Risk Factor ◽  
High Risk ◽  
Predictive Value ◽  
Surgical Procedure ◽  
Operative Mortality ◽  
Survival Rates ◽  
Term Outcome ◽  
Long Term Outcome

Background and Aims: The ability to predict post-operative mortality reliably will be of assistance in making decisions concerning the treatment of an individual patient. The aim of this study was to test the GAS score as a predictor of post-operative mortality in vascular surgical patients. Material and Methods: A total of 157 consecutive patients who underwent an elective vascular surgical procedure were included in the study. The Cox proportional hazards model was used in analyzing the importance of various preoperative risk factors for the postoperative outcome. ASA and GAS were tested in predicting the short and long-term outcome. On the basis of the GAS cut-off value 77, patients were selected into low-risk (GAS low: GAS < 77) and high-risk (GAS high: GAS > = 77) groups, and the examined risk factors were analyzed to determine which of them had predictive value for the prognosis. Results: None of the patients in the GAS low group died, and mortality in the GAS high group was 4.8% (p = 0.03) at 30 days' follow-up. The 12-month survival rates were 98.6% and 78.6% (p = 0.0001), respectively, with the respective 5-year survival rates of 76.7% and 44.0% (p = 0.0001). The only independent risk factor for 30-day mortality was the renal risk factor (OR 20.2). The combination of all three GAS variables(chronic renal failure, cardiac disease and cerebrovascular disease), excluding age, was associated with a 100% two-year mortality. Conclusions: Mortality is low for patients with GAS<77. For the high-risk patients (GAS> = 77), due to its low predictive value for death, GAS yields limited value in clinical practice. In cases of patients with all three risk factors (renal, cardiac and cerebrovascular), vascular surgery should be considered very carefully.

scholarly journals Risk Factors of Sectio Caesarea Delivery at Djafar Harun Hospital

2021 ◽  
Vol 4 (1) ◽  
pp. 72-78
Author(s):  
Samsi Burhan ◽  
Agusrinal ◽  
Ika Sartika ◽  
Asmurti
Keyword(s):  
Risk Factors ◽  
Risk Factor ◽  
Placenta Previa ◽  
Sampling Technique ◽  
Sectio Caesarea ◽  
Ratio Test ◽  
Study Approach ◽  
Strong Risk Factor ◽  
Study Population ◽  
Narrow Pelvis

The number of mothers giving birth with sectio caesarae delivery at BLUD R.S H.M Djafar Harun North Kolaka in 2015 was 254 people, then increased in 2016 to 521 people. The purpose of this study was to analyze the risk factors for the incidence of Sectio Caesarea delivery at H.M Djafar Harun Hospital, North Kolaka. This type of research is an analytic observational study with a case-control study approach. The study population was 68 with a sample of 136 people using the Accidental Sampling Technique. Data analysis using the Odds Ratio test. The results of the risk analysis based on narrow pelvic factors showed the value of OR= 9,681; LL= 2,728; UL= 34,355, and then placenta previa factor showed the value of OR= 6,484; LL= 0,759; UL= 55,385. In conclusion, narrow pelvis is a strong risk factor and placenta previa is not a strong risk factor for Sectio Caesarea delivery. It is hoped that the hospital will seek to identify high-risk pregnancies, complications or pregnancy abnormalities so that they can be detected early so that they are able to more optimally handle complications during childbirth.

scholarly journals Lifestyle related risk factors of coronary artery disease patients in Nepal

2019 ◽  
Vol 29 (Supplement_4) ◽  
Author(s):  
P Gaudel ◽  
M Kaunonen ◽  
S Neupane ◽  
K Joronen ◽  
A M Koivisto ◽  
...  
Keyword(s):  
Risk Factors ◽  
Coronary Artery Disease ◽  
Risk Factor ◽  
Coronary Artery ◽  
Categorical Variables ◽  
Dietary Habit ◽  
Total Study Population ◽  
Related Risk ◽  
Study Population ◽  
Artery Disease

Abstract Background Coronary Artery Disease (CAD) is a leading cause of morbidity and mortality and serious health problem worldwide. It is important to observe lifestyle related risk factors in patients with CAD for effective planning and implementation of secondary prevention strategies. The aim of this study is to describe the prevalence of lifestyle related risk factor habits among the patients with CAD. Methods A cross-sectional study was conducted among CAD patients in a tertiary care national heart center in Kathmandu, Nepal. Six lifestyle related factors (dietary habit, smoking, alcohol consumption, stress, physical activity and adherence to medication) and Body Mass Index were used as the risk factors of CAD in this study. Individual face-to-face structured interview was conducted using culturally validated standard instruments. The descriptive characteristics were presented as frequencies and percentages for categorical variables and as mean ± standard deviation (SD) or median and interquartile range (IQR) otherwise. Results In total study population, the mean age of the patients was 59.9 years and 76% were male. Patients having any three risk factors out of seven were the most common (36%) followed by two risk factors (25%) and four risk factors (22%). About 32% of study population were current smokers, whereas 29% were former smokers. Likewise, 31% of the total were physically inactive. Majority of the patients 95% had perceived moderate stress. Conclusions The prevalence of lifestyle related risk factors is high among CAD patients in study population. Combination of any three lifestyle related risk factors were the most common among patients. Therefore, studies focusing on lifestyle risk factor modification intervention on particular groups is recommended. Key messages Need to improve awareness about lifestyle related risk factors among CAD patients. Highlight the importance of lifestyle counselling.

scholarly journals 684. Risk Stacking for Pneumococcal Disease in Costa Rica

2018 ◽  
Vol 5 (suppl_1) ◽  
pp. S247-S247
Author(s):  
Jorge Chaverri-Murillo ◽  
Manuel Ramírez-Cardoce ◽  
José Castro-Cordero
Keyword(s):  
Risk Factors ◽  
Risk Factor ◽  
Costa Rica ◽  
High Risk ◽  
Pneumococcal Disease ◽  
Heart Diseases ◽  
High Risk Factor ◽  
Tertiary Hospitals ◽  
Risk Patients ◽  
Culture Positive

Abstract Background The value of nontraditional high-risk factor stacking is not known in the Costa Rican population. We aim to describe risk factor stacking for pneumococcal disease (PD) in patients seeking care at Social Security Hospitals in Costa Rica Methods Descriptive study of adult patients with microbiological culture-positive Streptococcus pneumoniae disease seeking care at two tertiary hospitals in Costa Rica between years 2014 and 2016. Information on underlying comorbidities (nontraditional) and other risk factors for PD was analyzed and stalked for each age group (G1: &lt;50, G2: 50–64, and G3: ≥65 y/o). Results We included 181 culture-positive patients. We found that patients in G1 predominantly stacked ≥2 risk factors (63%), the proportion of patients with ≥2 risk factor was similar to high-risk patients in G2 (33% vs. 38%). In G3, 18% didn’t stacked any other risk factor and 46% was on high-risk. Most frequent risk factors in G1/G2 were smoking and alcoholism, and in G3 chronic pulmonary and heart diseases. Conclusion We conclude that risk factor stacking is more relevant than high-risk conditions and PD also occurs in persons &lt;50 y/o. We recommend that risk factor stacking should be considered in prevention strategies for PD. Disclosures All authors: No reported disclosures.

P6214How to improve long-term prevention in young patients after myocardial infarction - the IPP-Y study

2019 ◽  
Vol 40 (Supplement_1) ◽  
Author(s):  
H Wienbergen ◽  
T Retzlaff ◽  
J Erdmann ◽  
S Michel ◽  
L A Mata Marin ◽  
...  
Keyword(s):  
Risk Factors ◽  
Risk Factor ◽  
Randomized Trial ◽  
Prevention Program ◽  
Genetic Risk ◽  
Ldl Cholesterol ◽  
Young Patients ◽  
Risk Scores ◽  
Risk Factor Control

Abstract Background Patients who experienced myocardial infarction (MI) at a young age are of special medical and socioeconomic interest; cardiovascular risk factor control to prevent recurrent events is crucial in this specific cohort. Objectives The purpose of the study was to evaluate long-term risk factor control in young MI-patients in clinical practice and investigate the effects of a modern intensive prevention program in a prospective randomized trial. In a genetic substudy it was analyzed if prevention effects were depending on individual genetic risk. Methods Patients who had MI at age of ≤45 years were revisited after a mean period of 5.7±4.0 years to evaluate long-term risk factor control. Furthermore a 12-months intensive prevention program in young MI-patients (IPP-Y), coordinated by non-physician prevention assistants and including personal teachings, telephone contacts, clinical and telemetric control of risk factors, was compared to usual care in a randomized trial. Primary endpoint of the randomized trial was prevention success, defined as improvement of one of the risk factors smoking, LDL cholesterol or physical inactivity without deterioration of the others. As the opposite prevention failure was defined as deterioration of one of the risk factors without improvement of the others. Genetic risk was assessed by polygenetic risk scores, based on 163 SNPs. Results Only a minority of the 277 young patients after MI achieved guideline-recommended risk factor targets at long-term follow-up visits: mean body mass index was 29.9±5.1 kg/m2, just 14.8% had a body mass index <25 kg/m2. More than one third (38.3%) were persistent or recurrent smokers. Mean LDL cholesterol level was 94±38 mg/dl, only 27.1% of the patients achieved LDL cholesterol levels <70 mg/dl. However, the long-term prevention program IPP-Y led to a higher rate of the primary endpoint prevention success (IPP-Y: 49% vs. UC: 27%, p<0.05) and a lower rate of prevention failure (IPP-Y: 15% vs. UC: 38%, p<0.05) compared to usual care after 12 months (see figure). Telemetric control of risk factors as part of the prevention program was used by 71.4% of the patients. In the genetic subanalysis prevention effects were found in both, patients with high genetic risk as well as patients with low genetic risk assessed by polygenetic risk scores (p=0.79 high vs. low genetic risk). Effects of IPP-Y during 12 months Conclusions To our knowledge this is the first study on young patients with MI that demonstrates insufficient long-term risk factor control in clinical practice and significant effects of an intensive prevention program. Prevention effects were independent from individual genetic risk. Acknowledgement/Funding This work was supported by the Stiftung Bremer Herzen, Bremen, Germany and the Stiftung Bremer Wertpapierbörse, Bremen, Germany

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