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 <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 Cardiac Conduction Disorders as Markers of Cardiac Events in Myotonic Dystrophy Type 1

2020 ◽  
Vol 9 (17) ◽  
Author(s):  
Hideki Itoh ◽  
Takashi Hisamatsu ◽  
Takuhisa Tamura ◽  
Kazuhiko Segawa ◽  
Toshiaki Takahashi ◽  
...  
Keyword(s):  
Sudden Death ◽  
Myotonic Dystrophy ◽  
Cardiac Conduction ◽  
Myotonic Dystrophy Type 1 ◽  
Myotonic Dystrophy Type ◽  
Cardiac Events ◽  
Conduction Disorders ◽  
Qrs Duration

Background Myotonic dystrophy type 1 involves cardiac conduction disorders. Cardiac conduction disease can cause fatal arrhythmias or sudden death in patients with myotonic dystrophy type 1. Methods and Results This study enrolled 506 patients with myotonic dystrophy type 1 (aged ≥15 years; >50 cytosine‐thymine‐guanine repeats) and was treated in 9 Japanese hospitals for neuromuscular diseases from January 2006 to August 2016. We investigated genetic and clinical backgrounds including health care, activities of daily living, dietary intake, cardiac involvement, and respiratory involvement during follow‐up. The cause of death or the occurrence of composite cardiac events (ie, ventricular arrhythmias, advanced atrioventricular blocks, and device implantations) were evaluated as significant outcomes. During a median follow‐up period of 87 months (Q1–Q3, 37–138 months), 71 patients expired. In the univariate analysis, pacemaker implantations (hazard ratio [HR], 4.35; 95% CI, 1.22–15.50) were associated with sudden death. In contrast, PQ interval ≥240 ms, QRS duration ≥120 ms, nutrition, or respiratory failure were not associated with the incidence of sudden death. The multivariable analysis revealed that a PQ interval ≥240 ms (HR, 2.79; 95% CI, 1.9–7.19, P <0.05) or QRS duration ≥120 ms (HR, 9.41; 95% CI, 2.62–33.77, P < 0.01) were independent factors associated with a higher occurrence of cardiac events than those observed with a PQ interval <240 ms or QRS duration <120 ms; these cardiac conduction parameters were not related to sudden death. Conclusions Cardiac conduction disorders are independent markers associated with cardiac events. Further investigation on the prediction of occurrence of sudden death is warranted.

A form of Autoimmune Diabetes in Adults Named LADA – An Update on Essential Features and Controversies

2019 ◽  
Vol 15 (3) ◽  
pp. 172-173 ◽  
Author(s):  
Valdemar Grill ◽  
Bjørn O. Åsvold
Keyword(s):  
Genetic Background ◽  
Clinical Utility ◽  
Autoimmune Diabetes ◽  
Classical Type ◽  
Phenotypic Characteristics ◽  
Latent Autoimmune Diabetes ◽  
The Impact

Latent Autoimmune Diabetes in the Adult, LADA has been investigated less than “classical” type 1 and type 2 diabetes and the criteria for and the relevance of a LADA diagnosis has been challenged. Despite the absence of a genetic background that is exclusive to LADA, this form of diabetes displays phenotypic characteristics that distinguish it from other forms of diabetes. LADA is heterogeneous in terms of the impact of autoimmunity and lifestyle factors, something that poses problems as to therapy and follow-up perhaps particularly in those with marginal positivity. Yet, there appears to be clear clinical utility in classifying individuals as LADA.

scholarly journals Serum urate and cardiovascular events in the DCCT/EDIC study

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Alicia J. Jenkins ◽  
Barbara H. Braffett ◽  
Arpita Basu ◽  
Ionut Bebu ◽  
Samuel Dagogo-Jack ◽  
...  
Keyword(s):  
Cardiovascular Events ◽  
Serum Urate ◽  
Continuous Variable ◽  
Major Adverse Cardiovascular Events ◽  
Normal Range ◽  
The Metabolic Syndrome ◽  
Routine Measurement

AbstractIn type 2 diabetes, hyperuricemia is associated with cardiovascular disease (CVD) and the metabolic syndrome (MetS), but associations in type 1 diabetes (T1D) have not been well-defined. This study examined the relationships between serum urate (SU) concentrations, clinical and biochemical factors, and subsequent cardiovascular events in a well-characterized cohort of adults with T1D. In 973 participants with T1D in the Diabetes Control and Complications Trial/Epidemiology of Diabetes Interventions and Complications Study (DCCT/EDIC), associations were defined between SU, measured once in blood collected 1997–2000, and (a) concurrent MetS and (b) incident ‘any CVD’ and major adverse cardiovascular events (MACE) through 2013. SU was higher in men than women [mean (SD): 4.47 (0.99) vs. 3.39 (0.97) mg/dl, respectively, p < 0.0001], and was associated with MetS features in both (men: p = 0.0016; women: p < 0.0001). During follow-up, 110 participants (11%) experienced “any CVD”, and 53 (5%) a MACE. Analyzed by quartiles, SU was not associated with subsequent CVD or MACE. In women, SU as a continuous variable was associated with MACE (unadjusted HR: 1.52; 95% CI 1.07–2.16; p = 0.0211) even after adjustment for age and HbA1c (HR: 1.47; 95% CI 1.01–2.14; p = 0.0467). Predominantly normal range serum urate concentrations in T1D were higher in men than women and were associated with features of the MetS. In some analyses of women only, SU was associated with subsequent MACE. Routine measurement of SU to assess cardiovascular risk in T1D is not merited.Trial registration clinicaltrials.gov NCT00360815 and NCT00360893.

Insulin Dose Adjustment Following Bariatric Surgery, a Review of Available Literature

2021 ◽  
pp. 193229682110288
Author(s):  
Lynn E. Kassel ◽  
Jessica J. Berei ◽  
Jamie M. Pitlick ◽  
Joel E. Rand
Keyword(s):  
Diabetes Mellitus ◽  
Type 2 Diabetes ◽  
Bariatric Surgery ◽  
Type 2 Diabetes Mellitus ◽  
Dose Adjustment ◽  
Insulin Dose ◽  
Appraisal Tool

Bariatric surgery is a known and effective treatment for type 2 diabetes mellitus. Patients with type 1 diabetes mellitus and exogenous insulin-requiring type 2 diabetes mellitus require adjusted insulin dosing after surgery to avoid hypoglycemia. This review describes insulin dose adjustments following a variety of bariatric procedures. After searching the available literature and assessing for eligibility, 8 articles were included. The Johns Hopkins Research Evidence Appraisal Tool for literature appraisal was used. The results of this review reveal insulin dose adjustment varies based upon surgical procedure type and time of follow-up from the procedure.

scholarly journals Orexin A Enhances Pro-Opiomelanocortin Transcription Regulated by BMP-4 in Mouse Corticotrope AtT20 Cells

2021 ◽  
Vol 22 (9) ◽  
pp. 4553
Author(s):  
Satoshi Fujisawa ◽  
Motoshi Komatsubara ◽  
Naoko Tsukamoto-Yamauchi ◽  
Nahoko Iwata ◽  
Takahiro Nada ◽  
...  
Keyword(s):  
Stress Responses ◽  
Endocrine Function ◽  
Type I ◽  
Orexin A ◽  
Protein Levels ◽  
Bmp Receptors ◽  
Morphogenetic Protein ◽  
Crh Receptor Type 1

Orexin is expressed mainly in the hypothalamus and is known to activate the hypothalamic–pituitary–adrenal (HPA) axis that is involved in various stress responses and its resilience. However, the effects of orexin on the endocrine function of pituitary corticotrope cells remain unclear. In this study, we investigated the roles of orexin A in pro-opiomelanocortin (POMC) transcription using mouse corticotrope AtT20 cells, focusing on the bone morphogenetic protein (BMP) system expressed in the pituitary. Regarding the receptors for orexin, type 2 (OXR2) rather than type 1 (OX1R) receptor mRNA was predominantly expressed in AtT20 cells. It was found that orexin A treatment enhanced POMC expression, induced by corticotropin-releasing hormone (CRH) stimulation through upregulation of CRH receptor type-1 (CRHR1). Orexin A had no direct effect on the POMC transcription suppressed by BMP-4 treatment, whereas it suppressed Smad1/5/9 phosphorylation and Id-1 mRNA expression induced by BMP-4. It was further revealed that orexin A had no significant effect on the expression levels of type I and II BMP receptors but upregulated inhibitory Smad6/7 mRNA and protein levels in AtT20 cells. The results demonstrated that orexin A upregulated CRHR signaling and downregulated BMP-Smad signaling, leading to an enhancement of POMC transcription by corticotrope cells.

Clusters of cognitive impairment among different phenotypes of myotonic dystrophy type 1 and type 2

2016 ◽  
Vol 38 (3) ◽  
pp. 415-423 ◽  
Author(s):  
Stojan Peric ◽  
Vidosava Rakocevic Stojanovic ◽  
Gorana Mandic Stojmenovic ◽  
Vera Ilic ◽  
Masa Kovacevic ◽  
...  
Keyword(s):  
Cognitive Impairment ◽  
Myotonic Dystrophy ◽  
Myotonic Dystrophy Type 1 ◽  
Myotonic Dystrophy Type

Abstract 555: The Universal Clinical Classification of Acute Myocardial Infarction is a Better Predictor of Long Term Outcomes than ST Segment Classification

Circulation ◽  
2008 ◽  
Vol 118 (suppl_18) ◽  
Author(s):  
Manuel A Gonzalez ◽  
Dana Eilen ◽  
Rana A Marzouq ◽  
Saed Awadallah ◽  
Hiren R Patel ◽  
...  
Keyword(s):  
Risk Factors ◽  
Cardiovascular Risk ◽  
Inverse Relationship ◽  
Long Term Outcomes ◽  
St Segment ◽  
Vascular Beds

Introduction: The universal classification (UC) of AMI aims to facilitate cross-study analysis, yet the long-term outcomes using UC are largely unknown. Hypothesis: We tested the hypothesis that the long-term outcome of patients with AMI is better predicted by UC than ST segment classification. Methods: We conducted a prospective study of 348 consecutive patients with AMI with mean follow-up of 30.6 months. The primary outcome was the major adverse cardiovascular events (MACE) [composite of all causes of mortality, recurrent AMI, and stroke]. Multivariate and survival analysis of MACE was performed. Results: The study population was STEMI=168, NSTEMI=180, Type 1=278, Type 2=55, Type 3=5, Type 4a=2, Type 4b=5, and Type 5=3. During follow-up 80 patients died, 31 had an AMI, and 7 had a stroke. UC correlates with the ST segment classification (p<0.005). MACE free survival was different for Type 1 and Type 2 (p=0.043), but not for STEMI and NSTEMI. There was a positive association between MACE and the quartile of peak Troponin, number of cardiovascular risk factors, and number of vascular beds affected, and an inverse relationship with the utilization of discharge cardiovascular protective medications (all p≤0.01). No such inverse relationship existed for Type 2. Conclusions: UC of AMI is a better long-term predictor of MACE. The quartile of peak Troponin levels, cardiovascular risk factors, and number of vascular beds affected are independent predictors of MACE, while cardiac medications protect against MACE, except in Type 2 patients.

scholarly journals Hepatorenal Syndrome

2021 ◽  
Author(s):  
Arshpal Gill ◽  
Ra’ed Nassar ◽  
Ruby Sangha ◽  
Mohammed Abureesh ◽  
Dhineshreddy Gurala ◽  
...  
Keyword(s):  
Acute Kidney Injury ◽  
Renal Failure ◽  
Blood Flow ◽  
Mortality Rate ◽  
Kidney Injury ◽  
Type I ◽  
Tubular Necrosis ◽  
Cirrhotic Patients

Hepatorenal Syndrome (HRS) is an important condition for clinicians to be aware of in the presence of cirrhosis. In simple terms, HRS is defined as a relative rise in creatinine and relative drop in serum glomerular filtration rate (GFR) alongside renal plasma flow (RPF) in the absence of other competing etiologies of acute kidney injury (AKI) in patients with hepatic cirrhosis. It represents the end stage complication of decompensated cirrhosis in the presence of severe portal hypertension, in the absence of prerenal azotemia, acute tubular necrosis or others. It is a diagnosis of exclusion. The recognition of HRS is of paramount importance for clinicians as it carries a high mortality rate and is an indication for transplantation. Recent advances in understanding the pathophysiology of the disease improved treatment approaches, but the overall prognosis remains poor, with Type I HRS having an average survival under 2 weeks. Generally speaking, AKI and renal failure in cirrhotic patients carry a very high mortality rate, with up to 60% mortality rate for patients with renal failure and cirrhosis and 86.6% of overall mortality rates of patients admitted to the intensive care unit. Of the various etiologies of renal failure in cirrhosis, HRS carries a poor prognosis among cirrhotic patients with acute kidney injury. HRS continues to pose a diagnostic challenge. AKI can be either pre-renal, intrarenal or postrenal. Prerenal causes include hypovolemia, infection, use of vasodilators and functional due to decreased blood flow to the kidney, intra-renal such as glomerulopathy, acute tubular necrosis and post-renal such as obstruction. Patients with cirrhosis are susceptible to developing renal impairment. HRS may be classified as Type 1 or rapidly progressive disease, and Type 2 or slowly progressive disease. There are other types of HRS, but this chapter will focus on Type 1 HRS and Type 2 HRS. HRS is considered a functional etiology of acute kidney injury as there is an apparent lack of nephrological parenchymal damage. It is one several possibilities for acute kidney injury in patients with both acute and chronic liver disease. Acute kidney injury (AKI) is one of the most severe complications that could occur with cirrhosis. Up to 50% of hospitalized patients with cirrhosis can suffer from acute kidney injury, and as mentioned earlier an AKI in the presence of cirrhosis in a hospitalized patient has been associated with nearly a 3.5-fold increase in mortality. The definition of HRS will be discussed in this chapter, but it is characterized specifically as a form of acute kidney injury that occurs in patients with advanced liver cirrhosis which results in a reduction in renal blood flow, unresponsive to fluids this occurs in the setting of portal hypertension and splanchnic vasodilation. This chapter will discuss the incidence of HRS, recognizing HRS, focusing mainly on HRS Type I and Type II, recognizing competing etiologies of renal impairment in cirrhotic patients, and the management HRS.

Abstract 13297: Short-Term Mortality in Patients With Myocardial Injury and Myocardial Infarction Type 1 and Type 2

Circulation ◽  
2015 ◽  
Vol 132 (suppl_3) ◽  
Author(s):  
Laura Sarkisian ◽  
Lotte Saaby ◽  
Tina S Poulsen ◽  
Oke Gerke ◽  
Axel C Diederichsen ◽  
...  
Keyword(s):  
Myocardial Infarction ◽  
Myocardial Injury ◽  
Troponin I ◽  
Clinical Indication ◽  
Short Term ◽  
Cox Regression Analysis ◽  
Short Term Mortality

Introduction: Troponin elevations occur in a myriad of clinical conditions other than myocardial infarction (MI) and imply a poor prognosis. So far, data comparing the short-term outcome in patients with myocardial injury vs. patients with type 1 or type 2 MI are not available. Methods: Over a 1-year period we prospectively studied hospitalized patients having cardiac troponin I (cTnI) measured on clinical indication. The diagnosis of type 1 and type 2 MI was according to the universal definition involving a rising and/or falling pattern of cTnI values above the decision limit of 30 ng/L. cTnI elevations above this limit in patients without overt myocardial ischemia were defined as myocardial injury. A 1-month follow-up was done with mortality as endpoint. Results: The study covered 1577 consecutive patients with cTnI values >30 ng/L, of whom 360 had a type 1 MI, 119 a type 2 MI and 1089 had myocardial injury. Type 1 MI patients were younger with a median age of 70 (IQR 61-81) yrs, whereas the median ages in type 2 MI and myocardial injury were higher but comparable : 78 (IQR 67-84) vs. 77 (IQR 67-85) yrs. Peak cTnI values, however, were highest in type 1 MI: 3820 (530-19030) ng/L, lower in type 2 MI: 850 (390-3270) ng/L, and smallest in patients with myocardial injury: 90 (50-270) ng/L (p=0.0001). At one-month follow-up 285 patients had died. Mortality in the different subgroups was: 9% (33/360) in type 1 MI, 24% (28/119) in type 2 MI, and 21% (224/1089) in patients with myocardial injury. The results are depicted in the figure (Kaplan-Meier curves, log-rank-test; p-value <0.0001). Multivariate COX regression analysis revealed a Hazard Ratio (95%) of 2.1 (1.2-3.7) for type 2 MI and 1.4 (0.9-2.1) for myocardial injury. Conclusion: The short-term mortality in patients with myocardial injury and type 2 MI is almost identical but higher than in patients with type 1 MI. These prognostic findings imply that the clinical distinction between myocardial injury and type 2 MI may be somewhat artificial.

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