scholarly journals Prevalence and predictors of bradyarrhythmias requiring Permanent Pacing in patients with Anderson-Fabry disease.

2021 ◽  
Author(s):  
luigi tassetti ◽  
Carlo Fumagalli ◽  
Alessia Argirò ◽  
Mattia Zampieri ◽  
Martina Gori ◽  
...  
Keyword(s):  
Fabry Disease ◽  
Cardiac Involvement ◽  
Strongly Correlated ◽  
Univariable Analysis ◽  
Referral Centre ◽  
Permanent Pacing ◽  
Qrs Prolongation ◽  
Red Flag ◽  
Late Manifestation

Introduction: Bradyarrhythmias are an established red flag for storage cardiac conditions including Anderson-Fabry disease (AFD). The prevalence of bradyarrhythmias requiring a pacemaker (PM) and their timing in AFD is unresolved. We evaluated prevalence and predictors of PM requirement in a large AFD cohort, investigating the occurrence of bradyarrhythmias as initial versus late manifestation. Methods: we retrospectively evaluated 82 consecutive AFD patients referred to our multidisciplinary referral centre from 1994 to 2020 with a median follow up of 6.9 years, identifying those requiring pacing. Univariable analysis was performed to identify cardiac features associated with PM implantantion. Results: Five of 82 (6%) AFD patients required PM implantation (5/39, i.e. 13% of those with cardiac involvement), always in the context of advanced cardiomyopathy. In none, bradyarrhythmias were the presenting feature. Indications included sick sinus syndrome in 3 patients, advanced atrio-ventricular block in 2 patients. QRS prolongation during follow up strongly correlated with the onset of bradyarrhythmias. Conclusions: Severe bradyarrhythmias are relatively frequent in patients with AFD cardiomyopathy, but do not represent a mode of presentation, occurring late in the disease course and always in the context of advanced cardiac involvement. Monitoring QRS variations over time may help to identify patients requiring pacing.

scholarly journals Role of serial cardiac 18F-FDG PET-MRI in Anderson–Fabry disease: a pilot study

2021 ◽  
Vol 12 (1) ◽  
Author(s):  
Carmela Nappi ◽  
Andrea Ponsiglione ◽  
Antonio Pisani ◽  
Eleonora Riccio ◽  
Teodolinda Di Risi ◽  
...  
Keyword(s):  
Fabry Disease ◽  
Fdg Pet ◽  
Cardiac Involvement ◽  
Cardiac Injury ◽  
Gadolinium Enhancement ◽  
Enzyme Replacement ◽  
Imaging Results ◽  
Relationship Of

Abstract Aim We investigated the value of serial cardiac 18F-FDG PET-MRI in Anderson–Fabry disease (AFD) and the potential relationship of imaging results with FASTEX score. Methods and results Thirteen AFD patients underwent cardiac 18F-FDG PET-MRI at baseline and follow-up. Coefficient of variation (COV) of FDG uptake and FASTEX score were assessed. At baseline, 9 patients were enzyme replacement therapy (ERT) naïve and 4 patients were under treatment. Two patients presented a FASTEX score of 0 indicating stable disease and did not show any imaging abnormality at baseline and follow-up PET-MRI. Eleven patients had a FASTEX score > 20% indicating disease worsening. Four of these patients without late gadolinium enhancement (LGE) and with normal COV at baseline and follow-up had a FASTEX score of 35%. Three patients without LGE and with abnormal COV at baseline and follow-up had a FASTEX score ranging from 30 to 70%. Three patients with LGE and abnormal COV at baseline and follow-up had a FASTEX score between 35 and 75%. Finally, one patient with LGE and normal COV had a FASTEX score of 100%. Of the 12 patients on ERT at follow-up, FASTEX score was significantly higher in those 4 showing irreversible cardiac injury at baseline compared to 8 with negative LGE (66 ± 24 vs. 32 ± 21, p = 0.03). Conclusion 18F-FDG PET-MRI may be effective to monitor cardiac involvement in AFD.

Cardiac Involvement in Fabry Disease

2021 ◽  
Vol 77 (7) ◽  
pp. 922-936
Author(s):  
Maurizio Pieroni ◽  
James C. Moon ◽  
Eloisa Arbustini ◽  
Roberto Barriales-Villa ◽  
Antonia Camporeale ◽  
...  
Keyword(s):  
Fabry Disease ◽  
Cardiac Involvement

scholarly journals Cardiac involvement in COVID-19 patients: mid-term follow up by cardiovascular magnetic resonance

2021 ◽  
Vol 23 (1) ◽  
Author(s):  
Hui Wang ◽  
Ruili Li ◽  
Zhen Zhou ◽  
Hong Jiang ◽  
Zixu Yan ◽  
...  
Keyword(s):  
Cardiovascular Magnetic Resonance ◽  
Magnetic Resonance ◽  
Cardiac Involvement ◽  
Global Longitudinal Strain ◽  
Cine Imaging ◽  
Black Blood ◽  
Healthy Controls ◽  
Term Outcome ◽  
Post Contrast

Abstract Background Coronavirus disease 2019 (COVID-19) induces myocardial injury, either direct myocarditis or indirect injury due to systemic inflammatory response. Myocardial involvement has been proved to be one of the primary manifestations of COVID-19 infection, according to laboratory test, autopsy, and cardiovascular magnetic resonance (CMR). However, the middle-term outcome of cardiac involvement after the patients were discharged from the hospital is yet unknown. The present study aimed to evaluate mid-term cardiac sequelae in recovered COVID-19 patients by CMR Methods A total of 47 recovered COVID-19 patients were prospectively recruited and underwent CMR examination. The CMR protocol consisted of black blood fat-suppressed T2 weighted imaging, T2 star mapping, left ventricle (LV) cine imaging, pre- and post-contrast T1 mapping, and late gadolinium enhancement (LGE). LGE were assessed in mixed both recovered COVID-19 patients and healthy controls. The LV and right ventricle (RV) function and LV mass were assessed and compared with healthy controls. Results A total of 44 recovered COVID-19 patients and 31 healthy controls were studied. LGE was found in 13 (30%) of COVID-19 patients. All LGE lesions were located in the mid myocardium and/or sub-epicardium with a scattered distribution. Further analysis showed that LGE-positive patients had significantly decreased LV peak global circumferential strain (GCS), RV peak GCS, RV peak global longitudinal strain (GLS) as compared to non-LGE patients (p < 0.05), while no difference was found between the non-LGE patients and healthy controls. Conclusion Myocardium injury existed in 30% of COVID-19 patients. These patients have depressed LV GCS and peak RV strains at the 3-month follow-up. CMR can monitor the COVID-19-induced myocarditis progression, and CMR strain analysis is a sensitive tool to evaluate the recovery of LV and RV dysfunction.

scholarly journals X Chromosome Inactivation in Carriers of Fabry Disease: Review and Meta-Analysis

2021 ◽  
Vol 22 (14) ◽  
pp. 7663
Author(s):  
Emanuela Viggiano ◽  
Luisa Politano
Keyword(s):  
Fabry Disease ◽  
X Chromosome ◽  
Cardiac Involvement ◽  
Clinical Symptoms ◽  
Meta Analysis ◽  
Corneal Dystrophy ◽  
X Chromosome Inactivation ◽  
Chromosome Inactivation ◽  
The North ◽  
Kidney Involvement

Anderson-Fabry disease is an X-linked inborn error of glycosphingolipid catabolism caused by a deficiency of α-galactosidase A. The incidence ranges between 1: 40,000 and 1:117,000 of live male births. In Italy, an estimate of incidence is available only for the north-western Italy, where it is of approximately 1:4000. Clinical symptoms include angiokeratomas, corneal dystrophy, and neurological, cardiac and kidney involvement. The prevalence of symptomatic female carriers is about 70%, and in some cases, they can exhibit a severe phenotype. Previous studies suggest a correlation between skewed X chromosome inactivation and symptoms in carriers of X-linked disease, including Fabry disease. In this review, we briefly summarize the disease, focusing on the clinical symptoms of carriers and analysis of the studies so far published in regards to X chromosome inactivation pattern, and manifesting Fabry carriers. Out of 151 records identified, only five reported the correlation between the analysis of XCI in leukocytes and the related phenotype in Fabry carriers, in particular evaluating the Mainz Severity Score Index or cardiac involvement. The meta-analysis did not show any correlation between MSSI or cardiac involvement and skewed XCI, likely because the analysis of XCI in leukocytes is not useful for predicting the phenotype in Fabry carriers.

scholarly journals Heart involvement in type 1 and type 2 myotonic dystrophy. Insights from a 10-year follow-up study

2020 ◽  
Vol 41 (Supplement_2) ◽  
Author(s):  
F Fioravanti ◽  
P.G Golzio ◽  
M.L Carbone ◽  
A Panarelli ◽  
M Gagliardi ◽  
...  
Keyword(s):  
Myotonic Dystrophy ◽  
Cardiac Involvement ◽  
Type I ◽  
Device Therapy ◽  
Cardiac Symptom ◽  
Conduction Disorders ◽  
Reliable Marker

Abstract Background and aim Myotonic Dystrophy (MD) is the most common inherited muscular dystrophy of the adult. Cardiac manifestation, including arrhythmias and conduction disorders, contributes significantly to the morbidity and mortality of the disease. The transition from a subclinical form of cardiac involvement to potentially life-threating manifestations is highly variable and not yet entirely understood. Aim of this work is to evaluate whether PQ interval (PQi) prolongation could be a reliable marker to predict left and right ventricle impairment and the necessity of a stricter monitoring. Methods In this retrospective cohort study, we selected all consecutive patients with a confirmed diagnosis of MD (type 1 and type 2) referred to our Centre. We performed clinical, laboratoristic and instrumental assessments (every 3, 6 or 12 months), tailored on each patient's features. Every patient was treated according to the latest guidelines for pharmacological and device therapy. ECG (recorded at 25 and 50 mm/sec), 24h ECG Holter and transthoracic echocardiography were performed at least yearly. Cardiac Magnetic Resonance was requested to better stratify intermediate risk patients to implantable device therapy. Results A total of 72 patients (age 48±15 years, 39% female) were included in the analysis. Patients with MD type 1 and type 2 were referred to our Centre after a mean period of 12 years (SD ±8 years) from initial diagnosis. After a mean follow-up of 5 years (±4 years), 8 patients died (mean age at death: 60±12.4 years), all of them for respiratory insufficiency. We evaluated PQ interval (PQi) evolution and type I AVB onset. No statistically significant differences emerged when stratifying for type I AVB. Nevertheless, a PQi increase of more than 20 ms during the follow-up (even if PQ &lt;200 ms) is significantly associated with lower values of TAPSE and greater LVEDD, while no differences emerged for LVEF, dyastolic function and other echocardiographic parameters. Moreover, the evolution of PQ interval is associated with an increasing number of supraventricular arrhythmias and a worse prognosis (shorter interval from first cardiac symptom to death, p 0.025), despite optimal medical therapy. Conclusions Although relatively rare, MD is a challenge for present Cardiologists. How and when to treat those patients is not codified in guidelines or consensus papers. This study suggests PQi variation as a proxy for critical evolution of MD cardiac involvement. ECG and its modification during lifetime seem pivotal for these patients' care, qualifying as a red flag for stringent follow-up. Further evidences, on larger cohorts, are needed to validate these findings. Funding Acknowledgement Type of funding source: None

scholarly journals Management of ureteropelvic junction obstruction in horseshoe kidneys by an assortment of laparoscopic options

2015 ◽  
Vol 9 (11-12) ◽  
pp. 775 ◽  
Author(s):  
Pejman Shadpour ◽  
H. Habib Akhyari ◽  
Robab Maghsoudi ◽  
Masoud Etemadian
Keyword(s):  
Ureteropelvic Junction Obstruction ◽  
Left Kidney ◽  
Operation Time ◽  
Ureteropelvic Junction ◽  
Laparoscopic Pyeloplasty ◽  
Referral Centre ◽  
Laparoscopic Management ◽  
The Mean ◽  
Crossing Vessels

Introduction: We report our experience with laparoscopic management of ureteropelvic junction obstruction in horseshoe kidneys.Methods: Between February 2004 and March 2014, 15 patients with horseshoe kidneys and symptomatic ureteropelvic junction obstruction underwent laparoscopic management at our national referral centre. Depending on the anatomy and presence of obtrusive vessels or isthmus, we performed either dismembered, Scardino or Foley YV pyeloplasty, or Hellstrom vessel transposition. Patients were initially evaluated by ultrasonography, then diuretic scintiscan at 4 to 6 months, and followed by yearly clinical and sonographic exams.Results: This study included 11 male and 4 female patients between the ages of 4 to 51 year (average 17.7). The left kidney was involved in 12 patients (80%). Operation time was 129 minutes (range: 90–186), and patients were discharged within 2.8 days (range: 1–6). Although 8 (53.3%) patients had crossing vessels, of which 6 required transposing, the Hellstrom technique was solely used in 3 cases, of which notably 1 case failed to resolve and required laparoscopic Hynes within the next year. Eight cases underwent dismembered pyeloplasty, 2 Foley YV, 1 Scardino flap and 1 required isthmectomy and vessel suspension. At the mean follow-up of 60 (range: 18–120) months, the overall success rate was 93.3%.Conclusions: To our knowledge, this represents the largest report on laparoscopic pyeloplasty for horseshoe kidneys, providing the longest follow-up. Our findings confirm prior reports supporting laparoscopy and furthermore show that despite the prevalence of crossing vessels, transposition alone is seldom sufficient.

Significance of Positive and Negative Syndromes in Chronic Schizophrenia

1986 ◽  
Vol 149 (4) ◽  
pp. 439-448 ◽  
Author(s):  
S. R. Kay ◽  
L. A. Opler ◽  
A. Fiszbein
Keyword(s):  
Hospital Admissions ◽  
Chronic Schizophrenia ◽  
Strongly Correlated ◽  
General Psychopathology ◽  
Developmental Impairment ◽  
Schizophrenic Patients ◽  
History Of ◽  
Patient Stay ◽  
Negative Syndrome

Positive and negative syndromes were studied in relation to demographic, historical, genealogical, clinical, psychometric, extrapyramidal, and follow-up measures of 101 chronic schizophrenic patients. The criterion scales proved to be reliable, normally distributed, and strongly correlated with general psychopathology, but otherwise inversely related to one another. Multiple regression analysis identified sets of 4–6 independent variables that explained 74%-81 % of the scales' variance. A positive syndrome was associated chiefly with productive features, family history of sociopathy, more previous hospital admissions, and longer in-patient stay during the 30-month follow-up period. A negative syndrome correlated with deficits in cognitive, affective, social, and motor spheres, higher incidence of major psychiatric illness but less affective disorder among relatives, lower education, and greater cognitive developmental impairment. The results underscore the importance of genetic and biodevelopmental variables for understanding schizophrenic syndromes.

One-year follow up of Fabry disease patients treated by IV administration of a plant derived alpha-Gal-A enzyme: safety and efficacy

2017 ◽  
Vol 120 (1-2) ◽  
pp. S68 ◽  
Author(s):  
Derralynn Hughes ◽  
Simeon Boyd ◽  
Pilar Giraldo ◽  
Derlis Gonzalez ◽  
Myrl Holida ◽  
...  
Keyword(s):  
Fabry Disease ◽  
Safety And Efficacy ◽  
One Year

Structured Counselling and Regular Telephonic Follow Up among Diabetic Retinopathy Patients to improve Timely Referral Flow and Compliance from peripheral eye care centre to tertiary centre in Nepal: A Randomised Controlled Trial (Preprint)

2021 ◽  
Author(s):  
Binita Bhattarai ◽  
Saraswati Khadka, Thapa ◽  
Hari Bahadur Thapa ◽  
Sandip Bashyal ◽  
Bhesh Bikram Thapa, Chhetri ◽  
...  
Keyword(s):  
Diabetic Retinopathy ◽  
Controlled Trial ◽  
Treatment Options ◽  
Control Group ◽  
Intervention Package ◽  
Referral Centre ◽  
Randomized Controlled ◽  
Referral Compliance ◽  
Timely Referral

BACKGROUND Diabetic Retinopathy (DR) is an emerging public health issue. DR may lead to severe visual impairment or blindness. Referral communication and tracking system is helpful to monitor patients flow, timeliness and compliance; ensures a close relationship across health facilities and improves patient’s satisfaction. The aim of the study is to improve timely referral flow and compliance of patients diagnosed with DR. OBJECTIVE Primary objective: To assess the effect of intervention on timely referral compliance Secondary objectives: To assess the determinants and cost effectiveness of the intervention for timely referral compliance. METHODS This is an operational research study using cluster randomized controlled health facility-based trial. A situational analysis was conducted and problem tree was developed to identify different barriers to referral compliance (long waiting time, lack of knowledge about diabetic retinopathy, its impact on vision and different treatment options).Appropriate solutions were identified through comprehensive literature review and addressing individual barriers to improve poor referral and compliance of patients diagnosed with DR from peripheral centres (referring centre). These solutions were systemically arranged in the form of an intervention package, which will be tested using a cluster-based randomized controlled trial. Ten eligible peripheral hospitals out of 19will be randomly selected and allocated (lottery method); five each in intervention and control groups. Structured counselling and referral communication linkage will be implemented to the intervention group. Structured counselling, health educational material, and telephonic follow-up will be provided by a trained counsellor at the referring centre; patients will be told in detail about DR, its impact on eyes and vision, treatment options available and the treatment cost for different procedures. They will be explained process at LEIRC (referral centre) and a contact person shall facilitate their treatment at the referral centre. Patients in Control group will receive ongoing routine counselling and health education material. We collected data on referral and compliance, and their determinants using referral-and DR-registers, and structured questionnaires for 1.demographic and socioeconomic profile of patients, 2.telephonicfollow-up with noncompliant patients,3.Feedback of those referred, and 4.Performa for clinical information. Compliance is considered when the referred participant reports at referral centre within one month of counselling. Referral compliance between the two groups will be compared using appropriate statistical tests. Adjusted analysis will be conducted. RESULTS Due to COVID-19 pandemic the inflow of patients is reduced, thus the duration of the data collection will be increased. In the first 6 months of pilot data collection73 in intervention and 34 in control group were screened for referral; 12(21.82%) and 15(27,2%) already had severe NPDR or PDR at the time of screening. CONCLUSIONS Early stage of DR is asymptomatic and can go unnoticed until it affects vision leading to visual impairment and blindness. This study will assess the feasibility and effectiveness of a referral intervention package for improving early diagnosis and treatment with preservation of vision among DR patients. CLINICALTRIAL Clinicaltrials.gov NCT 04834648

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