Clinical progression of SYNJ1-related early onset atypical parkinsonism: 3-year follow up of the original Italian family

2014 ◽  
Vol 261 (4) ◽  
pp. 823-824 ◽  
Author(s):  
Marina Picillo ◽  
Angelo Ranieri ◽  
Giuseppe Orefice ◽  
Vincenzo Bonifati ◽  
Paolo Barone
Keyword(s):  
Early Onset ◽  
Atypical Parkinsonism ◽  
Clinical Progression ◽  
Italian Family

EARLY ONSET COLORRECTAL CANCER: PHENOTYPICAL FEATURES AND ENDOSCOPIC FOLLOW-UP AFTER SURGERY

2018 ◽  
Author(s):  
Á Cañete Ruiz ◽  
J Arribas Anta ◽  
D Rueda ◽  
S Tapial ◽  
C Narvaez ◽  
...  
Keyword(s):  
Early Onset

Elucidating the risk factors for progression from amyloid-negative amnestic mild cognitive impairment to dementia

2020 ◽  
Vol 17 ◽  
Author(s):  
Hyung-Ji Kim ◽  
Jae-Hong Lee ◽  
E-nae Cheong ◽  
Sung-Eun Chung ◽  
Sungyang Jo ◽  
...  
Keyword(s):  
Risk Factors ◽  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Cognitive Impairment ◽  
Mild Cognitive Impairment ◽  
Amnestic Mild Cognitive Impairment ◽  
Amyloid Pet ◽  
Clinical Progression ◽  
Amnestic Mci

Background: Amyloid PET allows for the assessment of amyloid β status in the brain, distinguishing true Alzheimer’s disease from Alzheimer’s disease-mimicking conditions. Around 15–20% of patients with clinically probable Alzheimer’s disease have been found to have no significant Alzheimer’s pathology on amyloid PET. However, a limited number of studies had been conducted this subpopulation in terms of clinical progression. Objective: We investigated the risk factors that could affect the progression to dementia in patients with amyloid-negative amnestic mild cognitive impairment (MCI). Methods: This study was a single-institutional, retrospective cohort study of patients over the age of 50 with amyloidnegative amnestic MCI who visited the memory clinic of Asan Medical Center with a follow-up period of more than 36 months. All participants underwent brain magnetic resonance imaging (MRI), detailed neuropsychological testing, and fluorine-18[F18]-florbetaben amyloid PET. Results: During the follow-up period, 39 of 107 patients progressed to dementia from amnestic MCI. In comparison with the stationary group, the progressed group had a more severe impairment in verbal and visual episodic memory function and hippocampal atrophy, which showed an Alzheimer’s disease-like pattern despite the lack of evidence for significant Alzheimer’s disease pathology. Voxel-based morphometric MRI analysis revealed that the progressed group had a reduced gray matter volume in the bilateral cerebellar cortices, right temporal cortex, and bilateral insular cortices. Conclusion: Considering the lack of evidence of amyloid pathology, clinical progression of these subpopulation may be caused by other neuropathologies such as TDP-43, abnormal tau or alpha synuclein that lead to neurodegeneration independent of amyloid-driven pathway. Further prospective studies incorporating biomarkers of Alzheimer’s diseasemimicking dementia are warranted.

scholarly journals Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome Resembling Juvenile Idiopathic Arthritis: A Single-Center Experience from Southern Turkey

2021 ◽  
pp. 1-6
Author(s):  
Rabia Miray Kisla Ekinci ◽  
Sibel Balci ◽  
Haldun Dogan ◽  
Serdar Ceylaner ◽  
Celal Varan ◽  
...  
Keyword(s):  
Juvenile Idiopathic Arthritis ◽  
Pericardial Effusion ◽  
Early Onset ◽  
Joint Space ◽  
Coxa Vara ◽  
Single Center ◽  
The Third ◽  
Single Center Experience ◽  
Southern Turkey

Camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome, caused by biallelic pathogenic mutations in the <i>PRG4</i> gene, is characterized by early-onset camptodactyly, noninflammatory arthropathy, coxa vara deformity, and rarely, pericardial effusion. Herein, we report 3 patients with CACP syndrome from 2 unrelated families. All patients are female, born to consanguineous parents, and had camptodactyly since the first years of their lives. Two patients had a prior diagnosis of juvenile idiopathic arthritis. Hip changes were present in 2 patients, and 2 of 3 patients had undergone surgery for camptodactyly. Routine echocardiographic evaluations were normal during the 2-year follow-up. This paper represents the third study including CACP patients from Turkey. Clinically, all 3 patients resembled juvenile idiopathic arthritis cases and received unnecessary medication. There is also an ongoing need for improving awareness of CACP and an effective treatment focusing on the lubrication of the joint space in CACP patients.

scholarly journals A novel predictor of clinical progression in patients on active surveillance for prostate cancer

2019 ◽  
Vol 13 (8) ◽  
Author(s):  
Guan Hee Tan ◽  
Antonio Finelli ◽  
Ardalan Ahmad ◽  
Marian Wettstein ◽  
Alexandre Zlotta ◽  
...  
Keyword(s):  
Prostate Cancer ◽  
Active Surveillance ◽  
Cox Regression ◽  
Area Under The Curve ◽  
Progression Free Survival ◽  
Roc Curves ◽  
Standard Of Care ◽  
Low Risk ◽  
Clinical Progression

Introduction: Active surveillance (AS) is standard of care in low-risk prostate cancer (PC). This study describes a novel total cancer location (TCLo) density metric and aims to determine its performance in predicting clinical progression (CP) and grade progression (GP).     Methods: This was a retrospective study of patients on AS after confirmatory biopsy (CBx). We excluded patients with Gleason ≥7 at CBx and <2 years follow-up. TCLo was the number of locations with positive cores at diagnosis (DBx) and CBx. TCLo density was TCLo / prostate volume (PV). CP was progression to any active treatment while GP occurred if Gleason ≥7 was identified on repeat biopsy or surgical pathology. Independent predictors of time to CP or GP were estimated with Cox regression. Kaplan-Meier analysis compared progression-free survival curves between TCLo density groups. Test characteristics of TCLo were explored with receiver operating characteristic (ROC) curves.     Results: We included 181 patients who had CBx between 2012-2015, and met inclusion criteria. The mean age of patients was 62.58 years (SD=7.13) and median follow-up was 60.9 months (IQR=23.4). A high TCLo density score (>0.05) was independently associated with time to CP (HR 4.70, 95% CI: 2.62-8.42, p<0.001), and GP (HR 3.85, 95% CI: 1.91-7.73, p<0.001). ROC curves showed TCLo density has greater area under the curve than number of positive cores at CBx in predicting progression.     Conclusion: TCLo density is able to stratify patients on AS for risk of CP and GP. With further validation, it could be added to the decision-making algorithm in AS for low-risk localized PC.

scholarly journals Analysis of serum levels of titanium and aluminium ions in patients with early onset scoliosis operated upon using the magnetic growing rod—a single centre study of 14 patients

2021 ◽  
Author(s):  
Mandar Deepak Borde ◽  
Sarang Sapare ◽  
Emile Schutgens ◽  
Chadi Ali ◽  
Hilali Noordeen
Keyword(s):  
Early Onset ◽  
Serum Levels ◽  
Early Onset Scoliosis ◽  
Ion Concentration ◽  
Long Term Effects ◽  
Blood Concentrations ◽  
Growing Rod ◽  
Rod System ◽  
Rod Breakage

Abstract Study design A cross-sectional retrospective Level 3 study. Objective To study the serum levels of Titanium and Aluminium ions in patients operated using the magnetically controlled growing rod (MCGR) system. Summary of background data 14 consecutive patients of early onset scoliosis with varying etiology managed with MCGR system with a minimum follow-up of 24 months were selected for the study. The group consisted of two boys (14.3%) and 12 girls (85.7%). The average age of the patients at the time of surgery was 10.4 years (5–15 years). The average period of follow-up was 43.7 months (28–79 months). After informed consent of the subjects and their caretakers, serum levels of titanium and aluminium were measured. These levels were then assessed with regards to the number of screws used, number of distractions and complications. Methods The concentration of titanium and aluminium ions in the serum was measured using high resolution inductively coupled plasma mass spectrometry. Results For the sake of ease of assessment, patients were divided into three etiology-based groups—idiopathic (n = 6), neuromuscular (n = 2) and syndromic (n = 6). The mean serum titanium level was 15.9 μg/L (5.1–28.2 μg/L) while that of aluminium was 0.1 μmol/L (0.1–0.2 μmol/L). Of the 14 patients, 2 (14.2%) patients had mechanical failure (actuator pin dysfunction), 3 (21.4%) had rod breakage requiring revision surgery and one patient (7.1%) had surgical site infection managed with appropriate antibiotics. Patients undergoing revision for rod breakage did not show any metallosis of the tissues during surgery. Conclusion Analysis of patients with scoliosis operated using the magnetic growing rod system concludes that it is accompanied by presence of titanium in the blood but whether clinically significant or not needs to be ascertained by comparison of preoperative and postoperative blood concentrations of the titanium ions in individual subjects. The aluminium ion concentration remains within normal limits. Though implant malfunction may raise the titanium levels in the blood, its clinical significance needs to be determined. The aluminium levels are not affected irrespective to the presence or absence of complications. The long-term effects of raised titanium levels in the blood also warrant further prospective studies designed for precise and deeper analyses.

scholarly journals Evaluation of changes in shoulder balance and prediction of final shoulder imbalance during growing-rod treatment for early-onset scoliosis

2021 ◽  
Vol 22 (1) ◽  
Author(s):  
Ziyang Liu ◽  
Tie Liu ◽  
Yong Hai ◽  
Lingyun Wu ◽  
Junrui Jonathan Hai ◽  
...  
Keyword(s):  
Early Onset ◽  
Demographic Data ◽  
Potential Effect ◽  
Early Onset Scoliosis ◽  
Shoulder Balance ◽  
Related Factors ◽  
Growing Rod ◽  
Shoulder Imbalance ◽  
Entire Treatment

Abstract Background Obtaining and maintaining final shoulder balance after the entire treatment course is essential for early-onset scoliosis (EOS) patients. The relatively small number of growing-rod (GR) graduates who complete final fusion has resulted in an overall paucity of research on the GR treatment of EOS and a lack of research on the shoulder balance of EOS patients during GR treatment. Methods Twenty-four consecutive patients who underwent GR treatment until final fusion were included. Radiographic shoulder balance parameters, including the radiographic shoulder height (RSH), clavicle angle (CA), and T1 tilt angle (T1T), before and after each step of the entire treatment were measured. Shoulder balance changes from GR implantation to the last follow-up after final fusion were depicted and analysed. Demographic data, surgical-related factors, and radiographic parameters were analysed to identify risk factors for final shoulder imbalance. The shoulder balance of patients at different time points was further analysed to explore the potential effect of the series of GR treatment steps on shoulder balance. Results The RSH showed substantial improvement after GR implantation (P = 0.036), during the follow-up period after final fusion (P = 0.021) and throughout the entire treatment (P = 0.011). The trend of change in the CA was similar to that of the RSH, and the T1T improved immediately after GR implantation (P = 0.037). Further analysis indicated that patients with shoulder imbalance before final fusion showed significantly improved shoulder balance after fusion (P = 0.045), and their RSH values at early postfusion and the final follow-up did not show statistically significant differences from those in the prefusion shoulder balance group (P > 0.05). Early postfusion shoulder imbalance (odds ratio (OR): 19.500; 95% confidence interval (CI) = 1.777–213.949; P = 0.015) was identified as an independent risk factor for final shoulder imbalance. Conclusions Shoulder balance could be improved by GR implantation but often changes during the multistep lengthening process, and the final result is relatively unpredictable. Final fusion could further adjust the prefusion shoulder imbalance. Focusing on the prefusion shoulder balance of GR graduates and providing patients with early shoulder balance after fusion might be necessary.

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