scholarly journals Early Initial Video-Electro-Encephalography Combined With Variant Location Predict Prognosis of KCNQ2-Related Disorder

Author(s):  
Yan Xu ◽  
Ya-lan Dou ◽  
Xiang Chen ◽  
Xin-ran Dong ◽  
Xin-hua Wang ◽  
...  

Abstract Background: The clinical features of KCNQ2-related disorders range from benign familial neonatal seizures 1 to early infantile epileptic encephalopathy 7. The genotype-phenotypic association is difficult to establish. Objective: To explore potential factors in neonatal period that can predict the prognosis of neonates with KCNQ2-related disorder. Methods: Neonates with KCNQ2-related disorder were retrospectively enrolled in our study in Children’s Hospital of Fudan University in China from Jan 2015 to Mar 2020. All patients were older than age of 12 months at time of follow-up, and assessed by Bayley Scales of Infant and Toddler Development-Third Edition (BSID-III) or Wechsler preschool and primary scale of intelligence-fourth edition (WPPSI-Ⅳ), then divided into three groups based on scores of BSID-III or WPPSI-Ⅳ: normal group, mild impairment group, encephalopathy group. We collected demographic variables, clinical characteristics, neuroimaging data. Considered variables include gender, gestational age, birth weight, age of the initial seizures, early interictal VEEG, variant location, delivery type. Variables predicting prognosis were identified using multivariate ordinal logistic regression analysis. Results: A total of 52 neonates were selected in this study. Early interictal video-electro-encephalography (VEEG) (OR=2.77; 95%CI: 1.20~4.34, P=0.001), and variant location(OR=2.77, 95%CI: 0.03~5.50, P=0.048) were independent risk factors for prognosis (p<0.05). Conclusions: The integration of early initial VEEG and variant location can predict prognosis. An individual whose KCNQ2 variant located in voltage sensor, the pore domain, with worse early initial VEEG background, often had an adverse outcome.

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Yan Xu ◽  
Ya-lan Dou ◽  
Xiang Chen ◽  
Xin-ran Dong ◽  
Xin-hua Wang ◽  
...  

Abstract Background The clinical features of KCNQ2-related disorders range from benign familial neonatal seizures 1 to early infantile epileptic encephalopathy 7. The genotype-phenotypic association is difficult to establish. Objective To explore potential factors in neonatal period that can predict the prognosis of neonates with KCNQ2-related disorder. Methods Infants with KCNQ2-related disorder were retrospectively enrolled in our study in Children’s Hospital of Fudan University in China from Jan 2015 to Mar 2020. All infants were older than age of 12 months at time of follow-up, and assessed by Bayley Scales of Infant and Toddler Development-Third Edition (BSID-III) or Wechsler preschool and primary scale of intelligence-fourth edition (WPPSI-IV), then divided into three groups based on scores of BSID-III or WPPSI-IV: normal group, mild impairment group, encephalopathy group. We collected demographic variables, clinical characteristics, neuroimaging data. Considered variables include gender, gestational age, birth weight, age of the initial seizures, early interictal VEEG, variant location, delivery type. Variables predicting prognosis were identified using multivariate ordinal logistic regression analysis. Results A total of 52 infants were selected in this study. Early interictal video-electro-encephalography (VEEG) (β = 2.77, 1.20 to 4.34, P = 0.001), and variant location (β = 2.77, 0.03 to 5.5, P = 0.048) were independent risk factors for prognosis. The worse the early interictal VEEG, the worse the prognosis. Patients with variants located in the pore-lining domain or S4 segment are more likely to have a poor prognosis. Conclusions The integration of early initial VEEG and variant location can predict prognosis. An individual whose KCNQ2 variant located in voltage sensor, the pore domain, with worse early initial VEEG background, often had an adverse outcome.


Author(s):  
Allison L. Groom ◽  
Thanh-Huyen T. Vu ◽  
Robyn L. Landry ◽  
Anshula Kesh ◽  
Joy L. Hart ◽  
...  

Vaping is popular among adolescents. Previous research has explored sources of information and influence on youth vaping, including marketing, ads, family, peers, social media, and the internet. This research endeavors to expand understanding of peer influence. Our hypothesis is that friends’ influence on teen vapers’ first electronic nicotine delivery systems (ENDS) use varies by demographic variables and awareness of ENDS advertising. In August–October 2017, youth (n = 3174) aged 13–18 completed an online survey to quantify ENDS behaviors and attitudes and were invited to participate in follow-up online research in November-December 2017 to probe qualitative context around perceptions and motivations (n = 76). This analysis focused on the ENDS users, defined as having ever tried any ENDS product, from the survey (n = 1549) and the follow-up research (n = 39). Among survey respondents, friends were the most common source of vapers’ first ENDS product (60%). Most survey respondents tried their first ENDS product while “hanging out with friends” (54%). Among follow-up research participants, the theme of socializing was also prominent. ENDS advertising and marketing through social media had a strong association with friend networks; in fact, the odds of friends as source of the first vaping experience were 2 times higher for those who had seen ENDS ads on social media compared with other types of media. The influence of friends is particularly evident among non-Hispanic Whites, Hispanics/Latinos, those living in urban areas, those living in high-income households, those with higher self-esteem, and those who experiment with vaping. These findings support the premise that peer influence is a primary social influencer and reinforcer for vaping. Being included in a popular activity appears to be a strong driving force.


Author(s):  
Maria Värendh ◽  
Christer Janson ◽  
Caroline Bengtsson ◽  
Johan Hellgren ◽  
Mathias Holm ◽  
...  

Abstract Purpose Humans have a preference for nasal breathing during sleep. This 10-year prospective study aimed to determine if nasal symptoms can predict snoring and also if snoring can predict development of nasal symptoms. The hypothesis proposed is that nasal symptoms affect the risk of snoring 10 years later, whereas snoring does not increase the risk of developing nasal symptoms. Methods In the cohort study, Respiratory Health in Northern Europe (RHINE), a random population from Denmark, Estonia, Iceland, Norway, and Sweden, born between 1945 and 1973, was investigated by postal questionnaires in 1999–2001 (RHINE II, baseline) and in 2010–2012 (RHINE III, follow-up). The study population consisted of the participants who had answered questions on nasal symptoms such as nasal obstruction, discharge, and sneezing, and also snoring both at baseline and at follow-up (n = 10,112). Results Nasal symptoms were frequent, reported by 48% of the entire population at baseline, with snoring reported by 24%. Nasal symptoms at baseline increased the risk of snoring at follow-up (adj. OR 1.38; 95% CI 1.22–1.58) after adjusting for age, sex, BMI change between baseline and follow-up, and smoking status. Snoring at baseline was associated with an increased risk of developing nasal symptoms at follow-up (adj. OR 1.22; 95% CI 1.02–1.47). Conclusion Nasal symptoms are independent risk factors for development of snoring 10 years later, and surprisingly, snoring is a risk factor for the development of nasal symptoms.


2021 ◽  
pp. 239936932110319
Author(s):  
Yihe Yang ◽  
Zachary Kozel ◽  
Purva Sharma ◽  
Oksana Yaskiv ◽  
Jose Torres ◽  
...  

Introduction: The prevalence of chronic kidney disease (CKD) is high among kidney neoplasm patients because of the overlapping risk factors. Our purpose is to identify kidney cancer survivors with higher CKD risk. Methods: We studied a retrospective cohort of 361 kidney tumor patients with partial or radical nephrectomy. Linear mixed model was performed. Results: Of patients with follow-up >3 months, 84% were identified retrospectively to fulfill criteria for CKD diagnosis, although CKD was documented in only 15%. Urinalysis was performed in 205 (57%) patients at the time of nephrectomy. Multivariate analysis showed interstitial fibrosis and tubular atrophy (IFTA) >25% ( p = 0.005), severe arteriolar sclerosis ( p = 0.013), female gender ( p = 0.024), older age ( p = 0.012), BMI ⩾ 25 kg/m2 ( p < 0.001), documented CKD ( p < 0.001), baseline eGFR ⩽ 60 ml/min/1.73 m2 ( p < 0.001), and radical nephrectomy ( p < 0.001) were independent risk factors of lower eGFR at baseline and during follow-up. Average eGFR decreased within 3 months post nephrectomy. However, patients with different risk levels showed different eGFR time trend pattern at longer follow-ups. Multivariate analysis of time × risk factor interaction showed BMI, radical nephrectomy and baseline eGFR had time-dependent impact. BMI ⩾ 25 kg/m2 and radical nephrectomy were associated with steeper eGFR decrease slope. In baseline eGFR > 90 ml/min/1.73 m2 group, eGFR rebounded to pre-nephrectomy levels during extended follow-up. In partial nephrectomy patients with baseline eGFR ⩾ 90 ml/min/1.73 m2 ( n = 61), proteinuria ( p < 0.001) and BMI ( p < 0.001) were independent risk factors of decreased eGFR during follow up. Conclusions: As have been suggested by others and confirmed by our study, proteinuria and CKD are greatly under-recognized. Although self-evident as a minimum workup for nephrectomy patients to include SCr, eGFR, urinalysis, and proteinuria, the need for uniform applications of this practice should be reinforced. Non-neoplastic histology evaluation is valuable and should include an estimate of global sclerosis% (GS) and IFTA%. Patients with any proteinuria and/or eGFR ⩽ 60 at the time of nephrectomy or in follow-up with urologists, and/or >25% GS or IFTA, should be referred for early nephrology consultation.


Author(s):  
Iván Galtier ◽  
Antonieta Nieto ◽  
María Mata ◽  
Jesús N. Lorenzo ◽  
José Barroso

ABSTRACT Objective: Subjective cognitive decline (SCD) and mild cognitive impairment (MCI) in Parkinson’s disease (PD) are considered as the risk factors for dementia (PDD). Posterior cortically based functions, such as visuospatial and visuoperceptual (VS-VP) processing, have been described as predictors of PDD. However, no investigations have focused on the qualitative analysis of the Judgment of Line Orientation Test (JLOT) and the Facial Recognition Test (FRT) in PD-SCD and PD-MCI. The aim of this work was to study the VS-VP errors in JLOT and FRT. Moreover, these variables are considered as predictors of PDD. Method: Forty-two PD patients and 19 controls were evaluated with a neuropsychological protocol. Patients were classified as PD-SCD and PD-MCI. Analyses of errors were conducted following the procedure described by Ska, Poissant, and Joanette (1990). Follow-up assessment was conducted to a mean of 7.5 years after the baseline. Results: PD-MCI patients showed a poor performance in JLOT and FRT total score and made a greater proportion of severe intraquadrant (QO2) and interquadrant errors (IQO). PD-SCD showed a poor performance in FRT and made mild errors in JLOT. PD-MCI and QO2/IQO errors were independent risk factors for PDD during the follow-up. Moreover, the combination of both PD-MCI diagnosis and QO2/IQO errors was associated with a greater risk. Conclusions: PD-MCI patients presented a greater alteration in VS-VP processing observable by the presence of severe misjudgments. PD-SCD patients also showed mild difficulties in VS-SP functions. Finally, QO2/IQO errors in PD-MCI are a useful predictor of PDD, more than PD-MCI diagnosis alone.


Cancers ◽  
2021 ◽  
Vol 13 (3) ◽  
pp. 502
Author(s):  
Junko Fukuda ◽  
Kenji Ikezawa ◽  
Miho Nakao ◽  
Suetsumi Okagaki ◽  
Reiko Ashida ◽  
...  

Because pancreatic cancer has a dismal prognosis, a strategy for early diagnosis is required. This study aimed to identify predictive factors of neoplastic progression in patients at high risk for pancreatic cancer and examined the efficiency of surveillance using transabdominal special ultrasonography focusing on the pancreas (special pancreatic US). Patients with slight main pancreatic duct (MPD) dilatation (≥2.5 mm) and/or pancreatic cysts (≥5 mm) were enrolled in a prospective surveillance study with special pancreatic US in a Japanese cancer referral center. A total of 498 patients undergoing surveillance for ≥3 years were included. During the median follow-up of 5.9 years, neoplastic progression developed in 11 patients (2.2%), including 9 patients who underwent pancreatectomy. Eight patients (72.7%) were diagnosed with stage 0/I disease, with an overall survival duration of 8.8 years. Findings of both MPD dilatation and pancreatic cysts at initial surveillance, MPD growth (≥0.2 mm/year) and cyst growth (≥2 mm/year) during surveillance were identified as independent risk factors for neoplastic progression. In summary, surveillance with special pancreatic US for high-risk individuals contributed to earlier detection of neoplastic progression, leading to a favorable prognosis. During surveillance, attention should be paid to MPD growth as well as to cyst growth.


2021 ◽  
Vol 9 (7_suppl3) ◽  
pp. 2325967121S0002
Author(s):  
Brendon C. Mitchell ◽  
Matthew Y. Siow ◽  
Alyssa Carrol ◽  
Andrew T. Pennock ◽  
Eric W. Edmonds

Background: Multidirectional shoulder instability (MDI) refractory to rehabilitation can be treated with arthroscopic capsulolabral reconstruction with suture anchors. No studies have reported on outcomes or examined the risk factors that may contribute to poor outcomes in adolescent athletes. Hypothesis/Purpose: To identify risk factors for surgical failure by comparing anatomic, clinical, and demographic variables in adolescents who underwent surgical intervention for MDI. Methods: All patients undergoing arthroscopic shoulder surgery at one institution between January 2009 and April 2017 were reviewed. Patients >20 years old at presentation were excluded. Multidirectional instability was defined by positive drive-through sign on arthroscopy plus positive sulcus sign and/or multidirectional laxity on anterior and posterior drawer testing while under anesthesia. Two-year minimum follow-up was required, but those whose treatment failed earlier were included for reporting purposes. Demographics and intraoperative findings were recorded, as were Single Assessment Numeric Evaluation (SANE) scoring, Pediatric and Adolescent Shoulder Survey (PASS), and the short version of the Disabilities of the Arm, Shoulder and Hand (QuickDASH) results. Results: Eighty adolescents (88 shoulders) were identified for having undergone surgical treatment of MDI. Of these 80 patients, 42 (50 shoulders; 31 female, 19 male) were available at a minimum of 2-year follow-up. Mean follow-up was 6.3 years (range, 2.8-10.2 years). Thirteen (26.0%) shoulders experienced surgical failure defined by recurrence of subluxation and instability, all of which underwent re-operation. Time to re-operation occurred at a mean of 1.9 years (range, 0.8-3.2). Our cohort had an overall survivorship of 96% at 1 year after surgery and 76% at 3 years. None of the anatomic, clinical, or demographic variables tested, or the presence of generalized ligamentous laxity, were correlated with subjective outcomes or re-operation. Number of anchors used was not different between those that failed and those that did not fail. Patients reported a mean SANE score of 83.3, PASS score of 85.0, and QuickDASH score of 6.8. Return to prior level of sport (RTS) occurred in 56% of patients. Conclusion: Multidirectional shoulder instability is a complex disorder that can be challenging to treat. Adolescent MDI that is refractory to non-surgical management appears to have long-term outcomes after surgical intervention that are comparable to adolescent patients with unidirectional instability. In patients who do experience failure of capsulorraphy, we show that failure will most likely occur within 3 years of the index surgical treatment. [Table: see text][Figure: see text]


2022 ◽  
Vol 58 (1) ◽  
pp. 7-16
Author(s):  
Claudio Motta ◽  
Philip Witte ◽  
Andrew Craig

ABSTRACT The objective of this study was to document the short- and medium-to-long-term outcomes and complication rates of Y-T humeral condylar fractures fixed using titanium polyaxial locking plate (T-PLP). A retrospective review was performed of the medical records and radiographs of dogs with a Y-T humeral condylar fracture treated with T-PLP at a single veterinary referral center (2012–2018). Seventeen cases met the inclusion criteria. Medium- to long-term follow-up (.6 mo) information was derived using the Liverpool Osteoarthritis in Dogs (LOAD) questionnaire. Recorded complications were catastrophic (1/17) and minor (2/17). Gait at 10–12 wk following surgery was subjectively assessed as good or excellent for 13 cases. Radiographic bone union was achieved in 7/12 cases at 4–6 wk. LOAD scores obtained a mean of 15 mo (range 6–29 mo) following surgery and indicated no or mild impairment in 15/16 and moderate functional impairment in 1. The application of T-PLP for the treatment of Y-T humeral condylar fractures resulted in adequate stabilization allowing successful fracture healing and medium- to long-term outcomes comparable to previous reports. According to results of LOAD testing, the medium- to long-term follow-up suggests that clients were aware of mild to moderate functional impairment in all cases.


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