Reply: Impact of Cardio-Renal Syndrome on adverse outcomes in patients with Fabry disease in a long-term follow-up

2018 ◽  
Vol 258 ◽  
pp. 206
Author(s):  
Albina Nowak ◽  
Martin Siegenthaler ◽  
Mehdi Namdar ◽  
Frank Ruschitzka
Keyword(s):  
Fabry Disease ◽  
Adverse Outcomes ◽  
Long Term Follow Up

scholarly journals Impact of cardio-renal syndrome on adverse outcomes in patients with Fabry disease in a long-term follow-up

2017 ◽  
Vol 249 ◽  
pp. 261-267 ◽  
Author(s):  
M. Siegenthaler ◽  
U. Huynh-Do ◽  
P. Krayenbuehl ◽  
E. Pollock ◽  
U. Widmer ◽  
...  
Keyword(s):  
Fabry Disease ◽  
Adverse Outcomes ◽  
Long Term Follow Up

Long-term follow-up of subvalvular aortic stenosis in children: a single-centre experience

2021 ◽  
pp. 1-8
Author(s):  
Mehmet G. Ramoğlu ◽  
Selen Karagözlü ◽  
Tayfun Uçar ◽  
Zeynep Eyileten ◽  
Adnan Uysalel ◽  
...  
Keyword(s):  
Aortic Insufficiency ◽  
Adverse Outcomes ◽  
Subaortic Stenosis ◽  
Male Predominance ◽  
Single Centre Experience ◽  
Long Term Follow Up ◽  
Echocardiographic Parameters ◽  
Subvalvular Aortic Stenosis

Abstract Objective: The aim of this study is to evaluate clinical and surgical outcomes of children with subaortic stenosis, to determine the risk factors for surgery and reoperation and to compare isolated subaortic stenosis and those concomitant with CHDs. Methods: The study involved 80 children with subaortic stenosis. The patients were first classified as isolated and CHD group, and the isolated group was further classified as membranous/fibromuscular group. The initial, pre-operative, post-operative and the most recent echocardiographic data, demographic properties and follow-up results of the groups were analysed and compared. The correlation of echocardiographic parameters with surgery and reoperation was evaluated. Results: There was a significant male predominance in all groups. The frequency of the membranous type was higher than the fibromuscular type in the whole and the CHD group. The median time to the first operation was 4.6 years. Thirty-five (43.7%) patients underwent surgery, 5 of 35 (14%) patients required reoperation. The rate of surgery was similar between groups, but reoperation was significantly higher in the isolated group. The gradient was the most important factor for surgery and reoperation in both groups. In the isolated group besides gradient, mitral-aortic separation was the only echocardiographic parameter correlated with surgery and reoperation. Conclusion: Reoperation is higher in isolated subaortic stenosis but similar in membranous and fibromuscular types. Early surgery may be beneficial in preventing aortic insufficiency but does not affect the rate of reoperation. Higher initial gradients are associated with adverse outcomes, recurrence and reoperation.

scholarly journals Long-term follow-up of pulmonary function in Fabry disease: A bi-center observational study

PLoS ONE ◽  
2017 ◽  
Vol 12 (7) ◽  
pp. e0180437 ◽  
Author(s):  
Daniel P. Franzen ◽  
Albina Nowak ◽  
Sarah R. Haile ◽  
Dominique Mottet ◽  
Marco Bonani ◽  
...  
Keyword(s):  
Observational Study ◽  
Pulmonary Function ◽  
Fabry Disease ◽  
Long Term Follow Up

scholarly journals Long-term follow-up of renal function in patients treated with migalastat for Fabry disease

2021 ◽  
Vol 28 ◽  
pp. 100786
Author(s):  
Daniel G. Bichet ◽  
Roser Torra ◽  
Eric Wallace ◽  
Derralynn Hughes ◽  
Roberto Giugliani ◽  
...  
Keyword(s):  
Renal Function ◽  
Fabry Disease ◽  
Long Term Follow Up

scholarly journals High prevalence of early arch reobstruction after arch repair in patients with anomalous right subclavian artery

2019 ◽  
Vol 57 (1) ◽  
pp. 78-84 ◽  
Author(s):  
Nandhini Ravintharan ◽  
Yves d’Udekem ◽  
Matthew Henry ◽  
Johann Brink ◽  
Igor E Konstantinov ◽  
...  
Keyword(s):  
Aortic Arch ◽  
Subclavian Artery ◽  
Adverse Outcomes ◽  
Bronchial Obstruction ◽  
High Prevalence ◽  
Long Term Follow Up ◽  
Arch Obstruction ◽  
Subclavian Vessel

Abstract OBJECTIVES Having an anomalous right subclavian artery has been quoted to be a risk factor for early and late adverse events. We wanted to determine the rate of adverse outcomes in patients who have undergone arch repair with an associated anomalous right subclavian artery. METHODS The follow-up of 76 patients, with an anomalous right subclavian artery, who underwent arch repair at a single institution for various indications between 1981 and 2017 was reviewed. RESULTS There were 12 patient deaths. Twenty-three patients required an aortic arch reintervention (17 surgeries, 2 of which were indicated for bronchial obstruction). At last follow-up, 8 of 54 surviving patients (15%) had arch reobstruction (peak gradient >25 mmHg or reintervention). Freedom from aortic arch obstruction at 10 and 15 years was 51% [95% confidence interval (CI) 36–65%] and 35% (95% CI 19–51%), respectively. Neither the complete resection of the adjacent ridge nor the detachment and reimplantation of the anomalous subclavian vessel seemed to have an impact on the rate of reobstruction [hazard ratio (HR) 1.6, 95% CI 0.77–3.5; P = 0.2 and HR 0.61, 95% CI 0.083–4.5; P = 0.6, respectively]. CONCLUSIONS Patients with an anomalous right subclavian artery are at risk of arch reobstruction necessitating reintervention but long-term follow-up was unable to demonstrate the mechanism of this obstruction in patients with this anomaly.

scholarly journals Long-Term Outcomes of Acute Osteoarticular Infections in Children

2020 ◽  
Vol 8 ◽  
Author(s):  
Nora Manz ◽  
Andreas H. Krieg ◽  
Michael Buettcher ◽  
Nicole Ritz ◽  
Ulrich Heininger
Keyword(s):  
Medical Care ◽  
Adverse Outcomes ◽  
Initial Presentation ◽  
Joint Involvement ◽  
Long Term Outcomes ◽  
Osteoarticular Infections ◽  
Number Of Patients ◽  
Long Term Follow Up

Background: Acute hematogenous osteomyelitis (OM) and septic arthritis require immediate diagnosis and treatment by an interdisciplinary team of pediatric infectious disease specialists and pediatric orthopedic surgeons. Adverse outcomes such as growth disturbance, bone deformity, and chronic infections have been described in older studies. However, there is only little known about long-term follow-up of patients of the last two decades. Therefore, we aimed to evaluate subjective and objective long-term outcomes of these children with osteoarticular infections treated in the millennial years.Methods: Cross-sectional study performed in two pediatric centers including patients admitted for OM and/or SA between 2005 and 2014 and follow-up consultations in 2019. Patients with symptoms of ≤2 weeks duration at initial presentation were contacted. Subjective outcomes were assessed by standardized interview, objective outcomes by clinical examination. Medical charts were used to extract data from the initial presentations. Statistical analysis was performed by non-parametric tests and Fisher's exact test.Results: Of 147 eligible patients 77 (52%) agreed to participate, of which 68 (88%) had an interview and physical examination and 9 (12%) an interview only. Thirty-three (39%) had OM, 26 (34%) SA, and 21 (27%) combined OM/SA. Median (IQR) age at follow-up was 13.3 (10.5–18.0) years with a median (IQR) follow-up of 7.1 (6.1–8.6) years. Persistent complaints including pain, functional differences and scar paresthesia, reported by 21 (28%) patients, were generally mild and only 3 (5%) required ongoing medical care. Objective sequelae including pain, limited range of motion, unilateral axis deformity or asymmetric gait were found in 8 (12%) participants. Older age, female sex, joint involvement, surgical intervention, persistent fever, and C-reactive protein elevation were associated with adverse clinical outcome.Conclusions: Adverse outcomes were observed in a considerable number of patients, most of which were minor, and only few required ongoing medical care. Long-term follow up is advisable for patients with risk factors identified during the initial presentation.This study was registered on ClinicalTrials.gov (NCT03827980).

Risk factors for adverse outcomes of patients with acute coronary syndrome: single-centre experience with long-term follow-up of treated patients

2018 ◽  
pp. 881-888 ◽  
Author(s):  
Marcin Grabowski ◽  
Krzysztof J. Filipiak ◽  
Grzegorz Opolski ◽  
Renata Główczyńska ◽  
Monika Gawałko ◽  
...  
Keyword(s):  
Risk Factors ◽  
Acute Coronary Syndrome ◽  
Adverse Outcomes ◽  
Single Centre ◽  
Coronary Syndrome ◽  
Single Centre Experience ◽  
Long Term Follow Up

scholarly journals Newborn Screening for Fabry Disease in Northeastern Italy: Results of Five Years of Experience

Biomolecules ◽  
2021 ◽  
Vol 11 (7) ◽  
pp. 951
Author(s):  
Vincenza Gragnaniello ◽  
Alessandro P Burlina ◽  
Giulia Polo ◽  
Antonella Giuliani ◽  
Leonardo Salviati ◽  
...  
Keyword(s):  
Newborn Screening ◽  
Fabry Disease ◽  
Organ Damage ◽  
Lysosomal Storage ◽  
Long Term Follow Up ◽  
Northeastern Italy ◽  
Second Tier ◽  
Gla Gene

Fabry disease (FD) is a progressive multisystemic lysosomal storage disease. Early diagnosis by newborn screening (NBS) may allow for timely treatment, thus preventing future irreversible organ damage. We present the results of 5.5 years of NBS for FD by α-galactosidase A activity and globotriaosylsphingosine (lyso-Gb3) assays in dried blood spot through a multiplexed MS/MS assay. Furthermore, we report our experience with long-term follow-up of positive subjects. We screened more than 170,000 newborns and 22 males were confirmed to have a GLA gene variant, with an incidence of 1:7879 newborns. All patients were diagnosed with a variant previously associated with the later-onset phenotype of FD or carried an unclassified variant (four patients) or the likely benign p.Ala143Thr variant. All were asymptomatic at the last visit. Although lyso-Gb3 is not considered a reliable second tier test for newborn screening, it can simplify the screening algorithm when its levels are elevated at birth. After birth, plasma lyso-Gb3 is a useful marker for non-invasive monitoring of all positive patients. Our study is the largest reported to date in Europe, and presents data from long-term NBS for FD that reveals the current incidence of FD in northeastern Italy. Our follow-up data describe the early disease course and the trend of plasma lyso-Gb3 during early childhood.

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