scholarly journals Unexplained Fatal Hyperammonemia in a Patient With New Diagnosis of Acute Monoblastic Leukemia

Cureus ◽  
2021 ◽  
Author(s):  
Mohamed Fayed ◽  
Nimesh Patel ◽  
Yahia Al Turk ◽  
Patrick B Bradley
Keyword(s):  
Acute Monoblastic Leukemia ◽  
New Diagnosis

Acute Monoblastic Leukemia with t(11;17)(q23;q21): Fusion of the KMT2A(MLL) and MLLT6(AF17) Genes

2019 ◽  
Vol 9 (4) ◽  
pp. 258
Author(s):  
Cheon-Gang Park ◽  
Seon-Ho Mun ◽  
A-Jin Lee ◽  
Chang-Ho Jeon ◽  
Hun Suk Suh ◽  
...  
Keyword(s):  
Acute Monoblastic Leukemia

scholarly journals Diagnostic Yield of Electroanatomic Voltage Mapping in Guiding Endomyocardial Biopsies

Circulation ◽  
2020 ◽  
Vol 142 (13) ◽  
pp. 1249-1260 ◽  
Author(s):  
Michela Casella ◽  
Antonio Dello Russo ◽  
Marco Bergonti ◽  
Valentina Catto ◽  
Edoardo Conte ◽  
...  
Keyword(s):  
Cardiac Magnetic Resonance ◽  
Sensitivity And Specificity ◽  
Low Voltage ◽  
Diagnostic Yield ◽  
Gadolinium Enhancement ◽  
Promising Tool ◽  
Voltage Mapping ◽  
Few Data ◽  
New Diagnosis ◽  
Complications Rate

Background: Electroanatomic voltage mapping (EVM) is a promising modality for guiding endomyocardial biopsies (EMBs). However, few data support its feasibility and safety. We now report the largest cohort of patients undergoing EVM-guided EMBs to show its diagnostic yield and to compare it with a cardiac magnetic resonance (CMR)–guided approach. Methods: We included 162 consecutive patients undergoing EMB at our institution from 2010 to 2019. EMB was performed in pathological areas identified at EVM and CMR. CMR and EVM sensitivity and specificity regarding the identification of pathological substrates of myocardium were evaluated according to EMB results. Results: Preoperative CMR showed late gadolinium enhancement in 70% of the patients, whereas EVM identified areas of low voltage in 61%. Right (73%), left (19%), or both ventricles (8%) underwent sampling. EVM proved to have sensitivity similar to CMR (74% versus 77%), with specificity being 70% and 47%, respectively. In 12 patients with EMB-proven cardiomyopathy, EVM identified pathological areas that had been undetected at CMR evaluation. Sensitivity of pooled EVM and CMR was as high as 95%. EMB analysis allowed us to reach a new diagnosis, different from the suspected clinical diagnosis, in 39% of patients. The complications rate was low, mostly related to vascular access, with no patients requiring urgent management. Conclusions: EVM proved to be a promising tool for targeted EMB because of its sensitivity and specificity for identification of myocardial pathological substrates. EVM was demonstrated to have accuracy similar to CMR. EVM and CMR together conferred a positive predictive value of 89% on EMB.

scholarly journals Updated Insights on EGFR Signaling Pathways in Glioma

2021 ◽  
Vol 22 (2) ◽  
pp. 587
Author(s):  
Alexandru Oprita ◽  
Stefania-Carina Baloi ◽  
Georgiana-Adeline Staicu ◽  
Oana Alexandru ◽  
Daniela Elise Tache ◽  
...  
Keyword(s):  
Signaling Pathways ◽  
Treatment Strategies ◽  
Growth Factor Receptor ◽  
Standard Of Care ◽  
Egfr Signaling ◽  
Current Standard ◽  
Egfr Amplification ◽  
Epidermal Growth ◽  
New Diagnosis ◽  
Clear Clinical Benefit

Nowadays, due to recent advances in molecular biology, the pathogenesis of glioblastoma is better understood. For the newly diagnosed, the current standard of care is represented by resection followed by radiotherapy and temozolomide administration, but because median overall survival remains poor, new diagnosis and treatment strategies are needed. Due to the quick progression, even with aggressive multimodal treatment, glioblastoma remains almost incurable. It is known that epidermal growth factor receptor (EGFR) amplification is a characteristic of the classical subtype of glioma. However, targeted therapies against this type of receptor have not yet shown a clear clinical benefit. Many factors contribute to resistance, such as ineffective blood–brain barrier penetration, heterogeneity, mutations, as well as compensatory signaling pathways. A better understanding of the EGFR signaling network, and its interrelations with other pathways, are essential to clarify the mechanisms of resistance and create better therapeutic agents.

scholarly journals Aortic Valve Calcification is Associated with Future Cognitive Impairment

2021 ◽  
pp. 1-7
Author(s):  
Hojune E. Chung ◽  
Jessica Chen ◽  
Dhairyasheel Ghosalkar ◽  
Jared L. Christensen ◽  
Alice J. Chu ◽  
...  
Keyword(s):  
Cognitive Impairment ◽  
Aortic Valve ◽  
Lung Cancer Screening ◽  
Continuous Variable ◽  
Smoking History ◽  
Event Analysis ◽  
Aortic Valve Calcification ◽  
Valve Calcification ◽  
Ckd Stage ◽  
New Diagnosis

Background: While an association between atherosclerosis and dementia has been identified, few studies have assessed the longitudinal relationship between aortic valve calcification (AVC) and cognitive impairment (CI). Objective: We sought to determine whether AVC derived from lung cancer screening CT (LCSCT) was associated with CI in a moderate-to-high atherosclerotic risk cohort. Methods: This was a single site, retrospective analysis of 1401 U.S. veterans (65 years [IQI: 61, 68] years; 97%male) who underwent quantification of AVC from LCSCT indicated for smoking history. The primary outcome was new diagnosis of CI identified by objective testing (Mini-Mental Status Exam or Montreal Cognitive Assessment) or by ICD coding. Time-to-event analysis was carried out using AVC as a continuous variable. Results: Over 5 years, 110 patients (8%) were diagnosed with CI. AVC was associated with new diagnosis of CI using 3 Models for adjustment: 1) age (HR: 1.104; CI: 1.023–1.191; p = 0.011); 2) Model 1 plus hypertension, hyperlipidemia, diabetes, CKD stage 3 or higher (glomerular filtration rate <  60 mL/min) and CAD (HR: 1.097; CI: 1.014–1.186; p = 0.020); and 3) Model 2 plus CVA (HR: 1.094; CI: 1.011–1.182; p = 0.024). Sensitivity analysis demonstrated that the association between AVC and new diagnosis of CI remained significant upon exclusion of severe AVC (HR: 1.100 [1.013–1.194]; p = 0.023). Subgroup analysis demonstrated that this association remained significant when including education in the multivariate analysis (HR: 1.127 [1.030–1.233]; p = 0.009). Conclusion: This is the first study demonstrating that among mostly male individuals who underwent LCSCT, quantified aortic valve calcification is associated with new diagnosis of CI.

scholarly journals Regular exercise is associated with a lower risk of developing dementia in patients with a new diagnosis of atrial fibrillation: a nationwide population-based study

2020 ◽  
Vol 41 (Supplement_2) ◽  
Author(s):  
J.H Lim ◽  
S.R Lee ◽  
E.K Choi ◽  
J.P Yun ◽  
H.J Ahn ◽  
...  
Keyword(s):  
Physical Activity ◽  
Atrial Fibrillation ◽  
Vascular Dementia ◽  
Lower Risk ◽  
Alzheimer’S Dementia ◽  
P Value ◽  
Regular Exercise ◽  
Newly Diagnosed ◽  
Exercise Habit ◽  
New Diagnosis

Abstract Introduction Regular exercise is known to decrease the risk of dementia. There is a paucity of information about the impact of the change of exercise habit on cardiovascular outcomes after a new diagnosis of atrial fibrillation (AF). We aimed to investigate whether regular exercise is associated with the risk of developing dementia in patients with AF. Methods Using the Korean National Health Insurance Service database, we enrolled patients with newly diagnosed AF who had undergone health screening between 2010 and 2016. The study population was divided into four groups based on the consistency of regular exercise before and after AF diagnosis: (1) persistent non-exerciser, (2) exercise starter, (3) exercise quitter, and (4) exercise maintainer. We investigated the association between exercise and the risk of dementia. Results A total of 126,555 patients were included (mean age 62.7 years, male 62.0%, and mean CHA2DS2-VASc Score 2.7). During a median follow-up duration of 3.0 years, 5,943 patients were newly diagnosed as dementia (1.57 per 100 person-years). Among patients with incident dementia, 4,410 patients had Alzheimer's dementia and 951 patients had vascular dementia (1.16 and 0.25 per 100 person-years, respectively). Persistent non-exerciser, exercise starter, quitter, and maintainer groups were 65.1%, 12.8%, 12.7%, and 9.4%, respectively. After multivariable adjustment, we found that exercise was associated with a lower risk of developing overall dementia. When compared to persistent non-exerciser, exercise starter and maintainer showed reduced risk of developing dementia (hazard ratio [HR] 0.80, 95% confidence interval [95% CI] 0.73–0.88 and HR 0.63, 95% CI 0.54–0.73, respectively, all p-value &lt;0.0001), but exercise quitter showed no significant risk reduction (HR 0.95, 95% CI 0.88–1.03, Figure). Alzheimer's dementia showed consistent results: a 20% lower risk with exercise starter, and a 37% lower risk with exercise maintainer. Change of exercise habit, however, did not affect the risk of vascular dementia (all, p-value &gt;0.05, Figure). Conclusions Regular exercise showed a lower risk of dementia in patients with new-onset AF. Starting exercise even after the diagnosis of AF was beneficial to patients who had little physical activity previously. These findings may support physicians to recommend that AF patients should start exercise or keep their physical activity to reduce the risk of dementia. Funding Acknowledgement Type of funding source: None

scholarly journals SAT0056 INITIAL PRESENTATION OF RHEUMATOID ARTHRITIS (RA) – IS IT STILL “SYMMETRIC POLYARTHRITIS”?

2020 ◽  
Vol 79 (Suppl 1) ◽  
pp. 960.2-960
Author(s):  
T. Sokka-Isler ◽  
K. Paalanen ◽  
M. Kauppi ◽  
E. Nikiphorou
Keyword(s):  
Rheumatoid Arthritis ◽  
Demographic Data ◽  
Initial Presentation ◽  
X Rays ◽  
Clinical Database ◽  
Duration Of Symptoms ◽  
The Public ◽  
Small Joint ◽  
New Diagnosis ◽  
Sat 1

Background:RA is traditionally described as a symmetric polyarthritis. The ACR/EULAR 2010 criteria are met if patient has high positive ACPA, symptoms >=6 wks and one small joint swollen. The public and all steps of health care have been informed for many years that RA should be found early.Objectives:To study variations in pattern on first presentation of RA.Methods:All patients with the new diagnosis of RA were extracted from the GoTreatIT clinical database between 2008 to 2019 at a single RA clinic that covers a population of 250.000. Demographic data, clinical variables, labs, x-rays, joint status and PROs at baseline were included in the analysis. Appropriate parametric/non-parametric tests were used to study differences between groups.Results:A total of 1044 (73.5% CCP+) patients with no prior diagnosis of RA were included; 683 (65%) female, mean age 56; 361 (35%) male, mean age 61. At initial presentation in 2008, 60% had >=6 swollen joints (Figure) and a mean DAS28 of 4.4 compared to 22% and 3.8 respectively, in 2019 (p<0.007). Duration of symptoms prior to diagnosis decreased from 6 to 4 months (p=0.033), and the proportion of patients with erosions from 20% in 2008 to 14% in 2019 (ns). Symptoms (PROs) such as pain, fatigue and global health were similar/slightly worse in 2019 compared to 2008.Conclusion:RA cannot be marketed as “symmetric polyarthritis”, as more than half of the patients have a maximum of 2 swollen joints at the time of the diagnosis at the most recent years. Patients with RA can be identified earlier, with less disease activity and damage, compared to previous years.Figure:Disclosure of Interests:None declared

scholarly journals Amblyopia screening effectiveness at 3–4 years old: a cohort study

2021 ◽  
Vol 6 (1) ◽  
pp. e000599
Author(s):  
Sandra Guimaraes ◽  
Andreia Soares ◽  
Cristina Freitas ◽  
Pedro Barros ◽  
Ricardo Dourado Leite ◽  
...  
Keyword(s):  
Risk Reduction ◽  
Treatment Effectiveness ◽  
Absolute Risk ◽  
Absolute Risk Reduction ◽  
Number Needed To Screen ◽  
History Of ◽  
Disease Study ◽  
New Diagnosis ◽  
Screening Effectiveness ◽  
Timely Referral

ObjectiveTo study the effectiveness of amblyopia screening at ages 3–4.Methods and AnalysisFrom a population with no previous screening, a cohort of 2300 children with 3–4 years old attending school (91% of children this age attend school in Portugal), were submitted to a complete ophthalmological evaluation. Amblyopia was diagnosed, treated and followed. Amblyopia prevalence, treatment effectiveness, absolute risk reduction (ARR), number needed to screen (NNS) and relative risk reduction (RRR) were estimated.ResultsPast/present history of amblyopia was higher than 3.1%–4.2%, depending on amblyopia definition normatives. Screening at age 3–4, had estimated ARR=2.09% (95% CI 1.50% to 2.68%) with a reduced risk of amblyopia in adulthood of 87% (RRR). NNS was 47.8 (95% CI 37.3 to 66.7). Treatment effectiveness of new diagnosis was 88% (83% if we include children already followed). 91% of new amblyopia diagnoses were refractive (of which 100% surpassed amblyopia Multi-Ethnic Pediatric Eye Disease Study criteria after treatment), while most strabismic amblyopias were already treated or undertreatment. Only 30% of children with refractive amblyopia risk factors that were not followed by an ophthalmologist, ended up having amblyopia at age 3–4. Eye patch was needed equally in new-diagnosis versus treated-earlier refractive amblyopia.ConclusionsScreening amblyopia in a whole-population setting at age 3–4 is highly effective. For each 48 children screened at age 3–4, one amblyopia is estimated to be prevented in the future (NNS). Screening earlier may lead to overdiagnosis and overtreatments: Treating all new diagnosis before age 3–4 would have a maximal difference in ARR of 0.3%, with the possible burden of as much as 70% children being unnecessary treated before age 3–4.Involving primary care, with policies for timely referral of suspicious/high-risk preverbal children, plus whole screening at age 3–4 seems a rational/effective way of controlling amblyopia.

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