scholarly journals Contribution of Family Relatedness to Neurobehavioral Comorbidities in Idiopathic Childhood Epilepsies

2018 ◽  
Vol 24 (7) ◽  
pp. 653-661 ◽  
Author(s):  
Dace N. Almane ◽  
Qianqian Zhao ◽  
Paul J. Rathouz ◽  
Melissa Hanson ◽  
Daren C. Jackson ◽  
...  

AbstractObjectives:Rates of cognitive, academic and behavioral comorbidities are elevated in children with epilepsy. The contribution of environmental and genetic influences to comorbidity risk is not fully understood. This study investigated children with epilepsy, their unaffected siblings, and controls to determine the presence and extent of risk associated with family relatedness across a range of epilepsy comorbidities.Methods:Participants were 346 children (8–18 years),n=180 with recent-onset epilepsy, their unaffected siblings (n=67), and healthy first-degree cousin controls (n=99). Assessments included: (1) Child Behavior Checklist/6-18 (CBCL), (2) Behavior Rating Inventory of Executive Function (BRIEF), (3) history of education and academic services, and (4) lifetime attention deficit hyperactivity disorder (ADHD) diagnosis. Analyses consisted of linear mixed effect models for continuous variables, and logistic mixed models for binary variables.Results:Differences were detected between the three groups of children across all measures (p<.001). For ADHD, academic problems, and executive dysfunction, children with epilepsy exhibited significantly more problems than unaffected siblings and controls; siblings and controls did not differ statistically significantly from each other. For social competence, children with epilepsy and their unaffected siblings displayed more abnormality compared with controls, with no statistically significant difference between children with epilepsy and unaffected siblings. For behavioral problems, children with epilepsy had more abnormality than siblings and controls, but unaffected siblings also exhibited more abnormalities than controls.Conclusions:The contribution of epilepsy and family relatedness varies across specific neurobehavioral comorbidities. Family relatedness was not significantly associated with rates of ADHD, academic problems and executive dysfunction, but was associated with competence and behavioral problems. (JINS, 2018,24, 1–9)

2021 ◽  
pp. 019459982110089
Author(s):  
Quinn Dunlap ◽  
James Reed Gardner ◽  
Amanda Ederle ◽  
Deanne King ◽  
Maya Merriweather ◽  
...  

Objective Neck dissection (ND) is one of the most commonly performed procedures in head and neck surgery. We sought to compare the morbidity of elective ND (END) versus therapeutic ND (TND). Study Design Retrospective chart review. Setting Academic tertiary care center. Methods Retrospective chart review of 373 NDs performed from January 2015 to December 2018. Patients with radical ND or inadequate chart documentation were excluded. Demographics, clinicopathologic data, complications, and sacrificed structures during ND were retrieved. Statistical analysis was performed with χ2 and analysis of variance for comparison of categorical and continuous variables, respectively, with statistical alpha set a 0.05. Results Patients examined consisted of 224 males (60%) with a mean age of 60 years. TND accounted for 79% (n = 296) as compared with 21% (n = 77) for END. Other than a significantly higher history of radiation (37% vs 7%, P < .001) and endocrine pathology (34% vs 2.6%, P < .001) in the TND group, no significant differences in demographics were found between the therapeutic and elective groups. A significantly higher rate of structure sacrifice and extranodal extension within the TND group was noted to hold in overall and subgroup comparisons. No significant difference in rate of surgical complications was appreciated between groups in overall or subgroup analysis. Conclusion While the significantly higher rate of structure sacrifice among the TND population represents an increased morbidity profile in these patients, no significant difference was found in the rate of surgical complications between groups. The significant difference seen between groups regarding history of radiation and endocrine pathology likely represents selection bias.


2019 ◽  
Vol 6 (Supplement_2) ◽  
pp. S198-S198
Author(s):  
Michael Henry ◽  
Milan Kapadia ◽  
Joseph Nguyen; Barry Brause ◽  
Andy O Miller

Abstract Background There is contradicting evidence characterizing the difference in pathogens that cause hip and knee prosthetic joint infection (PJI). A possible difference in microbiology may inform choice in antibiotic etiology, prophylaxis, and empiric treatment. We sought to analyze a large cohort of PJIs to see whether there was a significant difference in pathogen between joints. Methods A retrospective cohort of hip and knee PJIs, from 2008 to 2016, were identified by ICD code and surgical codes. The PJI pathogen was identified from synovial or intra-articular tissue cultures. The Student’s t-test was used to compare continuous variables. Chi-square tests were used to compare the categorical variables to joint. Results 807 PJI cases were identified including 444 knees and 363 hips. There were no significant differences between hip and knee PJIs in age, sex, history of PJI, rheumatoid arthritis, Charlson comorbidity index and laterality. There was a higher frequency of diabetes in knee PJIs (25.3%) compared with hip PJIs (15.7%), P < 0.001. No significant difference was found in the prevalence of fungal, staphylococcal (including Staphylococcus aureus), streptococcal, or enterococcal pathogens between hip and knee PJIs. Conclusion In this single-center cohort, hip and knees PJIs are infected with similar pathogens. Multiple site studies are needed to characterize the microbiology of PJIs at a larger scale. Disclosures All authors: No reported disclosures.


2020 ◽  
Vol 35 (6) ◽  
pp. 885-885
Author(s):  
Kessler-Jones A ◽  
Almane D ◽  
Dabbs K ◽  
Gundlach C ◽  
Hsu D ◽  
...  

Abstract Objective To characterize the presence and nature of discrete behavioral phenotypes and their correlates in a cohort of youth with new and recent onset focal and generalized epilepsies (YWE). Methods The parents of 297 YWE (age 8–18; n = 183) and typically developing participants (n = 107), completed the Child Behavior Checklist. The 8 behavior problem scales were subjected to hierarchical clustering analytics to identify behavioral subgroups. Factors examined included: demographics, neuropsychological data, history of academic problems, epilepsy characteristics, parental IQ and education, cortical thickness, daily executive functioning, and number of lifetime-to-date DSM-IV diagnoses. Results Hierarchical clustering identified three behavioral phenotypes which included: no behavioral complications (Cluster 1, 67% of YWE), internalizing problems (Cluster 2, 11% of YWE), and combined internalizing and externalizing problems (Cluster 3, 22% of YWE). These behavioral phenotypes were characterized by orderly differences in the factors analyzed. Cluster 1 was most similar to controls across most metrics while Cluster 3 was the most abnormal. Epilepsy syndrome was not a predictor of cluster membership. Conclusion YWE fall into 3 distinct behavioral phenotypes associated with a variety of co-occurring features and comorbidities. This approach identifies important phenotypes of behavior problem presentations and their accompanying factors that serve to advance clinical and theoretical understanding of the behavioral complications of children with epilepsy and the complex conditions with which they co-occur.


2020 ◽  
Vol 25 (2) ◽  
pp. 507-519 ◽  
Author(s):  
Carlo Cianchetti ◽  
Noemi Faedda ◽  
Marcello Pasculli ◽  
Maria Giuseppina Ledda ◽  
Giacomo Diaz ◽  
...  

Background: The questionnaires completed by the parents give a first general information on the behavioral problems of the child–adolescent, as a useful orientation to the clinical evaluation. The Child and Adolescent Behavior Inventory (CABI) is a 75-item parent questionnaire, which explores a large number of problem areas. The study of its predictive validity for the clinical diagnosis, in comparison with the Diagnostic and Statistical Manual of Mental Disorders ( DSM)-oriented scales of the Child Behavior Checklist (CBCL), can assess whether its use may be advantageous. Material and Methods: Parents/caregivers of 462 children and adolescents responded to both CABI and CBCL as a preliminary routine investigation. The results were compared with those of diagnoses obtained after the completion of the usual clinical procedure. Results: Accuracy values (probability of correct classification) resulted high for both instruments and significantly better for CABI anxiety and attention-deficit hyperactivity disorder (ADHD) scales, and for CBCL oppositional defiant disorder (ODD) and conduct disorder (CD) scales; no significant difference was found for depression scales. All the areas under the curve (AUC) of the receiver operating characteristic analysis reached excellent values, suggesting a very good predictive ability of the five scales of the two instruments. The comparison of AUC showed the CABI’s anxiety and ADHD scales to give significantly higher values than those of CBCL, indicating that these two scales have a better predictive ability. Conclusion: The study indicates a very good comparative (vs CBCL) and predictive validity of the CABI, suggesting an advantage in the use of this shorter questionnaire, available for free use both for clinical practice and supposedly for screening and epidemiological evaluations.


1997 ◽  
Vol 77 (05) ◽  
pp. 0822-0824 ◽  
Author(s):  
Elvira Grandone ◽  
Maurizio Margaglione ◽  
Donatella Colaizzo ◽  
Marina d'Addedda ◽  
Giuseppe Cappucci ◽  
...  

SummaryActivated protein C resistance (APCR) is responsible for most cases of familial thrombosis. The factor V missense mutation Arg506>Gln (FV Leiden) has been recognized as the commonest cause of this condition. Recently, it has been suggested that APCR is associated with second trimester fetal loss. We investigated the distribution of FV Leiden in a sample (n = 43) of Caucasian women with a history of two or more unexplained fetal losses. A group (n = 118) of parous women with uneventful pregnancies from the same ethnical background served as control. We found the mutation in 7 cases (16.28%) and 5 controls (4.24%; p = 0.011). A statistically significant difference between women with only early fetal loss vs those with late events (p = 0.04) was observed. Our data demonstrate a strong association between FV Leiden and fetal loss. Furthermore, they indicate that late events are more common in these patients.


1997 ◽  
Vol 77 (05) ◽  
pp. 0955-0958 ◽  
Author(s):  
Carole A Foy ◽  
Peter J Grant

SummaryPAI-2 is a fibrinolytic inhibitor produced predominantly by monocytes. Most PAI-2 is intracellular making study in clinical conditions difficult. Abnormalities in production may be associated with inflammation and fibrinolysis at sites of tissue damage such as the atherosclerotic plaque.PAI-2 gene variants have been described: variant A consists of Asn120, Asn404 and Ser413 and variant B consists of Asp120, Lys404 and Cys413. We designed a PCR-RFLP assay using primers spanning the region containing Asn/Lys404 and Ser/Cys413. Variant B contains an Mwol restriction site. We analysed 302 Pima Indians and 286 healthy Caucasian volunteers. To investigate relationships between genotype and vascular disease we analysed 333 Caucasian patients undergoing coronary angiography.Gene variant B was more common in the Pimas than in Caucasians (p <0.0001). There was no significant difference in genotype distribution between the volunteers and patients. In the patients there was no association between genotype and either a history of MI or extent of coronary atheroma.


2020 ◽  
Vol 22 (1) ◽  
Author(s):  
Farokh Saljughi ◽  
Mitra Savabi-Esfahani ◽  
Shahnaz Kohan ◽  
Soheila Ehsanpour

Mother-infant attachment is an intimate, lasting and satisfying relationship that leads to better cognitive, emotional and social growth of the infant. The aim of this study was to determine the effects of breastfeeding training by role-play on mother-infant attachment behaviours. This research was a randomised clinical trial (parallel design). Inclusion criteria were: no history of mental disorders; ability to read and write the Persian language to complete the questionnaire; no history of drug and tobacco intake in primigravida women. The sample comprised 100 pregnant women (in 2 groups), selected through simple random sampling at healthcare centres. The researcher reviewed prenatal care registries of selected healthcare centres and extracted the names of pregnant women in their early third trimester. The data were imported into randomisation software. The control group received routine breastfeeding training, while the intervention group received routine training together with training through role-play. The data collection tool was the Maternal Behaviour Inventory Questionnaire. Consequently 75 samples were analysed in SPSS16. Independent t-tests and chi-square tests were used to examine the difference between the two groups. Results showed that the mean score of mother-infant attachment one week after delivery was significantly higher in the intervention group in comparison to that in the control group (p<0.001). No significant difference was observed between the two groups in maternal age, age of marriage, neonatal gender, maternal employment and education, number of parity, and number of abortions (P>0.05). Since breastfeeding training through role-play could affect mother-infant attachment, it is suggested that this type of training should be provided for pregnant women to promote mother-infant attachment and exclusive breastfeeding.


2020 ◽  
Vol 41 (Supplement_2) ◽  
Author(s):  
P Milani ◽  
L Obici ◽  
R Mussinelli ◽  
M Basset ◽  
G Manfrinato ◽  
...  

Abstract Background Cardiac wild type transthyretin (ATTRwt) amyloidosis, formerly known as senile systemic amyloidosis, is an increasingly recognized, progressive, and fatal cardiomyopathy. Two biomarkers staging systems were proposed based on NT-proBNP (in both cases) and troponin or estimated glomerular filtration rate, that are able to predict survival in this population. The availability of novel effective treatments requires large studies to describe the natural history of the disease in different populations. Objective To describe the natural history of the disease in a large, prospective, national series. Methods Starting in 2007, we protocolized data collection in all the patients diagnosed at our center (n=400 up to 7/2019). Results The referrals to our center increased over time: 5 cases (1%) between 2007–2009, 33 (9%) in 2010–2012, 90 (22%) in 2013–2015 and 272 (68%) in 2016–2019. Median age was 76 years [interquartile range (IQR): 71–80 years] and 372 patients (93%) were males. One hundred and seventy-three (43%) had atrial fibrillation, 63 (15%) had a history of ischemic cardiomyopathy and 64 (15%) underwent pacemaker or ICD implantation. NYHA class was I in 58 subjects (16%), II in 225 (63%) and III in 74 (21%). Median NT-proBNP was 3064 ng/L (IQR: 1817–5579 ng/L), troponin I 0.096 ng/mL (IQR: 0.063–0.158 ng/mL), eGFR 62 mL/min (IQR: 50–78 mL/min). Median IVS was 17 mm (IQR: 15–19 mm), PW 16 mm (IQR: 14–18 mm) and EF 53% (IQR: 45–57%). One-hundred and forty-eight subjects (37%) had a concomitant monoclonal component in serum and/or urine and/or an abnormal free light chain ratio. In these patients, the diagnosis was confirmed by immunoelectron microscopy or mass spectrometry. In 252 (63%) the diagnosis was based on bone scintigraphy. DNA analysis for amyloidogenic mutations in transthyretin and apolipoprotein A-I genes was negative in all subjects. The median survival of the whole cohort was 59 months. The Mayo Clinic staging based on NT-proBNP (cutoff: 3000 ng/L) and troponin I (cutoff: 0.1 ng/mL) discriminated 3 different groups [stage I: 131 (35%), stage II: 123 (32%) and stage III: 127 (33%)] with different survival between stage I and II (median 86 vs. 81 months, P=0.04) and between stage II and III (median 81 vs. 62 months, P&lt;0.001). The UK staging system (NT-proBNP 3000 ng/L and eGFR 45 mL/min), discriminated three groups [stage I: 170 (45%), stage II: 165 (43%) and stage III: 45 (12%)] with a significant difference in survival: between stage I and stage II (86 vs. 52 months, P&lt;0.001) and between stage II and stage III (median survival 52 vs. 33 months, P=0.045). Conclusions This is one of the largest series of patients with cardiac ATTRwt reported so far. Referrals and diagnoses increased exponentially in recent years, One-third of patients has a concomitant monoclonal gammopathy and needed tissue typing. Both the current staging systems offered good discrimination of staging and were validated in our independent cohort. Funding Acknowledgement Type of funding source: None


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