scholarly journals Early initial video-electro-encephalography combined with variant location predict prognosis of KCNQ2-related disorder

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.

2021 ◽  
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.


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.


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.


2010 ◽  
Vol 30 (4) ◽  
pp. 440-447 ◽  
Author(s):  
Jie Dong ◽  
Yuan Chen

ObjectiveWe studied whether improper bag exchange predicts the first peritonitis episode in continuous ambulatory peritoneal dialysis (CAPD) patients.Patients and MethodsOur single-center prospective observational study of 130 incident urban CAPD patients who started peritoneal dialysis (PD) between March 2005 and August 2008 aimed to determine the relationship between bag exchange procedures examined at the 6th month of PD and risk for a first peritonitis episode. All patients were followed until a first peritonitis episode, censoring, or the end of the study.ResultsThese 130 patients experienced 22 first peritonitis episodes during the 14-month follow-up. During bag exchange evaluation, 51.5% of patients washed their hands improperly, 46.2% failed to check expiration date or bag leakage, and 11.5% forgot to wear a face mask and cap. Patients experiencing peritonitis were more likely to forget to wear a face mask and cap. In multivariate Cox regression model, not wearing a face mask and cap [hazard ratio (HR): 7.26; 95% confidence interval (CI): 2.6 to 20.1; p < 0.001] and having anemia (HR: 0.96; 95% CI: 0.94 to 0.99; p = 0.005) were independent risk factors for a first episode of peritonitis.ConclusionsNot wearing a face mask and cap and having anemia were independent risk factors for peritonitis. A further randomized control study needs to verify the correlation between improper bag exchange technique and peritonitis in PD patients.


2013 ◽  
Vol 142 (7) ◽  
pp. 1362-1374 ◽  
Author(s):  
B. FAUROUX ◽  
J.-B. GOUYON ◽  
J.-C. ROZE ◽  
C. GUILLERMET-FROMENTIN ◽  
I. GLORIEUX ◽  
...  

SUMMARYThe aim of this study was to describe the incidence and risk factors for respiratory morbidity during the 12-month period following the first respiratory syncytial virus (RSV) season in 242 preterm infants [<33 weeks gestational age (GA)] without bronchopulmonary dysplasia and 201 full-term infants (39–41 weeks GA) from the French CASTOR study cohort. Preterm infants had increased respiratory morbidity during the follow-up period compared to full-terms; they were more likely to have wheezing (21% vs. 11%, P = 0·007) and recurrent wheezing episodes (4% vs. 1%, P = 0·049). The 17 infants (14 preterms, three full-terms) who had been hospitalized for RSV-confirmed bronchiolitis during their first RSV season had significantly more wheezing episodes during the follow-up period than subjects who had not been hospitalized for RSV-confirmed bronchiolitis (odds ratio 4·72, 95% confidence interval 1·71–13·08, P = 0·003). Male gender, birth weight <3330 g and hospitalization for RSV bronchiolitis during the infant's first RSV season were independent risk factors for the development of wheezing episodes during the subsequent 12-month follow-up period.


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