31 results match your criteria: "Medical University of Heidelberg[Affiliation]"

Myocardial inflammatory cells in cardiac amyloidosis.

Sci Rep

October 2024

Department of Pathology, University Hospital Schleswig-Holstein, Christian-Albrechts-University, Arnold-Heller-Str. 3, Building U33, 24105, Kiel, Germany.

Article Synopsis
  • AL and ATTR are two common types of cardiac amyloidosis leading to serious heart issues and potentially fatal outcomes, with recent studies suggesting a link to cardiac inflammation.
  • In a study of 157 patients, myocardial biopsies were examined for immune cell types (T lymphocytes, macrophages, neutrophils) and various clinical measures to explore their relationships.
  • Results showed a significant link between macrophage presence and the severity of heart failure, indicating that macrophages may play an important role in the progression of cardiac amyloidosis.
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Age- and Sex-Related Differences in Patients With Wild-Type Transthyretin Amyloidosis: Insights From THAOS.

JACC Adv

August 2024

Heart Failure and Inherited Cardiac Diseases Unit, Department of Cardiology, Hospital, Universitario Puerta de Hierro, IDIPHISA, CIBERCV, Madrid, Spain.

Article Synopsis
  • Wild-type transthyretin amyloidosis (ATTRwt amyloidosis) is increasingly diagnosed in younger patients and women, despite being more common in elderly men.* -
  • In a study with 1,251 patients, the average time from symptom onset to diagnosis was about 2 years, with women under 70 experiencing the longest delays.* -
  • The study found that while men made up most of the patients, the proportion of women increased with age, and many patients showed significant functional impairment regardless of their age.*
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Article Synopsis
  • The ATTR-ACT trial showed that tafamidis significantly lowers mortality in patients with transthyretin amyloid cardiomyopathy (ATTR-CM), leading to its wide approval for treatment.
  • A follow-up study, THAOS, analyzed the survival rates of ATTR-CM patients treated with tafamidis compared to those who were not, finding better survival rates for the treated group at 30 and 42 months.
  • The findings suggest that early diagnosis and starting tafamidis treatment can improve life expectancy for patients with ATTR-CM, supporting the drug's safety and effectiveness based on real-world data.
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Article Synopsis
  • Transthyretin amyloidosis (ATTR amyloidosis) has two forms: wild-type (ATTRwt) and hereditary (ATTRv), with over 130 identified genetic variants affecting patient symptoms.
  • This analysis looked at four less common genetic variants (F64L, I68L, I107V, S77Y) in symptomatic patients enrolled in the Transthyretin Amyloidosis Outcomes Survey (THAOS) to better understand their demographic and clinical characteristics.
  • Findings revealed that most participants were older males, with distinct symptoms where F64L, I107V, and S77Y had more neurological issues, while I68L showed significant heart problems, highlighting the need for thorough patient evaluations across
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Article Synopsis
  • Transthyretin amyloidosis (ATTR amyloidosis) is a serious, progressive disease caused by the buildup of transthyretin amyloid fibrils in the body's tissues and organs, and can be hereditary or wild-type.* -
  • The Transthyretin Amyloidosis Outcomes Survey (THAOS) is a major global study launched in 2007 that has tracked over 6,000 patients, including symptomatic patients and asymptomatic carriers, providing important data on the disease's characteristics.* -
  • The recent analysis from THAOS revealed that most symptomatic patients are male, with a shift toward more mixed phenotypes and less predominantly cardiac phenotypes, highlighting the disease's complexity and variability among
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Article Synopsis
  • Transthyretin amyloidosis (ATTR amyloidosis) is a serious disease caused by the buildup of transthyretin amyloid fibrils in organs like the heart and nerves.
  • The Transthyretin Amyloidosis Outcomes Survey (THAOS), established in 2007, is the largest ongoing study tracking both symptomatic patients and asymptomatic gene carriers to understand the disease better.
  • The analysis included 5,609 participants and revealed that most symptomatic patients are male with a mean onset age of 56.3 years, while asymptomatic carriers are generally younger, highlighting the variant genotypes and clinical presentations across different regions.
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Article Synopsis
  • Wild-type transthyretin amyloidosis (ATTRwt amyloidosis) primarily affects males, and this study analyzed sex differences using data from the Transthyretin Amyloidosis Outcomes Survey (THAOS).
  • In the study of 1386 patients, only 6% were female, who tended to be older at enrollment and symptom onset compared to males, and showed differences in cardiac function and disability scores.
  • Results indicate that while females had less severe cardiac impairment, they experienced more significant walking difficulties, suggesting differences in disease expression between the sexes.
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Article Synopsis
  • - Autonomic dysfunction affects 40.4% of symptomatic patients with transthyretin amyloidosis (ATTR), occurring more frequently in those with the inherited variant (ATTRv) compared to the wild-type (ATTRwt).
  • - Patients with ATTRv experience autonomic dysfunction symptoms much sooner (averaging 3.4 years) than those with ATTRwt (averaging 9.7 years).
  • - While autonomic dysfunction significantly reduces quality of life in ATTRv patients, it does not appear to have the same impact in ATTRwt patients, as their quality of life scores are similar regardless of dysfunction presence.
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Article Synopsis
  • Transthyretin amyloid cardiomyopathy arises from the buildup of transthyretin amyloid fibrils in the heart, and the THAOS study surveyed patients with both wild-type (ATTRwt) and variant (ATTRv) forms of the disease.
  • The study analyzed data from 2007 to 2020, revealing a significant rise in ATTRwt diagnoses over the years, particularly in the U.S., while the time from symptom onset to diagnosis remained lengthy (over 60 months).
  • Despite a notable increase in diagnoses via bone scintigraphy since 2011, the study found that fewer ATTRwt patients presented with severe heart failure by 2019 compared to 2012.
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Article Synopsis
  • The study investigates the differences between male and female patients with ATTRv amyloidosis, a serious heart disease caused by amyloid buildup.
  • It analyzes data from the THAOS survey, focusing on cardiac symptoms, genotype, and phenotype differences linked to sex among patients.
  • Results show that males are more likely to have severe cardiac symptoms and may have biological factors that increase their risk for heart involvement compared to females.
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The formation of a thrombus in an epicardial artery may result in an acute myocardial infarction (AMI). Despite major advances in acute treatment using network approaches to allocate patients to timely reperfusion and optimal antithrombotic treatment, patients remain at high risk for thrombotic complications. Ongoing activation of the coagulation system as well as thrombin-mediated platelet activation may both play a crucial role in this context.

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Unlabelled: encodes hydroxysteroid 17-β dehydrogenase 13, a novel liver lipid-droplet associated protein that is involved in the regulation of lipid biosynthetic processes. A protein-truncating variant (rs72613567) was shown to protect individuals from alcoholic and non-alcoholic liver disease. Since steatosis is a common feature in Wilson's disease (WD), we aimed to assess whether the HSD17B13 variant modulates the phenotypic presentation and progression of WD.

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Background And Aims: Carriage of rs738409:G in patatin-like phospholipase domain containing 3 (PNPLA3) is associated with an increased risk for developing alcohol-related cirrhosis and hepatocellular carcinoma (HCC). Recently, rs72613567:TA in hydroxysteroid 17-beta dehydrogenase 13 (HSD17B13) was shown to be associated with a reduced risk for developing alcohol-related liver disease and to attenuate the risk associated with carriage of PNPLA3 rs738409:G. This study explores the risk associations between these two genetic variants and the development of alcohol-related cirrhosis and HCC.

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Background & Aims: Wilson disease (WD) is a rare disorder of copper metabolism. The objective of this systematic review was to determine the comparative effectiveness and safety of common treatments of WD.

Methods: We included WD patients of any age or stage and the study drugs D-penicillamine, zinc salts, trientine and tetrathiomolybdate.

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The high mortality rate of cholangiocarcinoma (CCA) is due, in part, to the lack of non-invasive approaches able to accurately detect this silent tumour at early stages, when therapeutic options can be potentially curative or may at least increase the overall survival of patients. The fact that the majority of CCA tumours are not linked to any known aetiological factor highly compromises the monitoring of patients at risk for tumour development and also their early diagnosis. Combination of clinical/biochemical features, imaging techniques and analysis of non-specific tumour biomarkers in serum are commonly used to help in the diagnosis of CCA, but tumour biopsy is usually required to confirm the diagnosis.

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Article Synopsis
  • Wilson disease (WD) is an inherited disorder affecting how the body processes copper, primarily causing liver disease and neuropsychiatric symptoms; this study examined clinical presentations among 1,357 WD patients.* -
  • The patients were classified based on their symptoms, with 711 showing liver disease and 461 showing neurological disease; 52.7% had a liver biopsy at diagnosis and multiple genetic mutations were identified, with the most common being H1069Q.* -
  • No direct link was found between specific mutations and clinical symptoms, though gender differences emerged, with hepatic issues more common in females and neurological issues in males; a significant number of patients, especially adults, already showed signs of cirrhosis at diagnosis
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Tafamidis Treatment for Patients with Transthyretin Amyloid Cardiomyopathy.

N Engl J Med

September 2018

From the Columbia University Vagelos College of Physicians and Surgeons (M.S.M.) and Pfizer (J.H.S., A.I.B., P.H., J.S., M.B.S.), New York; Syneos Health, Raleigh, NC (B.G.); University College London and St. Bartholomew's Hospital, London (P.M.E.); the Amyloidosis Center, Istituto di Ricovero e Cura a Carattere Scientifico Policlinico San Matteo, and the University of Pavia, Pavia (G.M.), and the Department of Experimental, Diagnostic, and Specialty Medicine, University of Bologna, Bologna (C.R.) - both in Italy; the Amyloidosis Center (CEPARM), Federal University of Rio de Janeiro, Rio de Janeiro (M.W-C.); the Amyloidosis Center, Medical University of Heidelberg, Heidelberg, Germany (A.V.K.); the Department of Cardiovascular Diseases, Mayo Clinic, Rochester, MN (M.G.); Stanford University School of Medicine, Stanford, CA (R.W.); the French Referral Center for Cardiac Amyloidosis, Amyloidosis Mondor Network, GRC Amyloid Research Institute and Department of Cardiology, Assistance Publique-Hôpitaux de Paris, CHU Henri Mondor, and INSERM Unité 955, Clinical Investigation Center 006, and DHU ATVB, Creteil, France (T.D.); Penn Presbyterian Medical Center, University of Pennsylvania Health System, Philadelphia (B.M.D.); the Division of Cardiology, Department of Medicine, Northwestern University Feinberg School of Medicine, Chicago (S.J.S.); Cleveland Clinic, Cleveland (M.H.); the Medical University of South Carolina, Charleston (D.P.J.); and Pfizer, Groton, CT (T.A.P., S.R., M.S.).

Article Synopsis
  • Transthyretin amyloid cardiomyopathy is a heart condition caused by abnormal proteins, and tafamidis helps stabilize these proteins to prevent disease progression.
  • In a phase 3 clinical trial with 441 patients, those taking tafamidis showed significantly lower death rates and fewer hospitalizations due to cardiovascular issues compared to placebo.
  • Tafamidis also improved physical health and quality of life measurements, indicating it is an effective treatment for this condition.
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Purpose: In addition to guidelines focusing on scientific evidence, practical recommendations on fertility preservation are also needed.

Methods: A selective literature search was performed based on the clinical and scientific experience of the authors. This article (Part II) focuses on fertility preservation techniques.

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Repeated photolithographic and etching processes allow the production of multileveled polymer microstructures that can be used as templates to produce bacterial cellulose with defined surfaces on demand. By applying this approach, the bacterial cellulose surface obtains new properties and its use for culturing neural stem cells cellulose substrate topography influences the cell growth in a defined manner.

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Article Synopsis
  • Transthyretin amyloidosis (ATTR) is a complex disorder affecting multiple organs, with both genetic and non-genetic causes; this study aimed to describe its characteristics in the U.S. using data from the THAOS registry.
  • Analysis revealed that U.S. patients are generally older (average age of 70) and predominantly male (85.4%), with a notable incidence of the Val122Ile mutation and a greater prevalence of wild-type disease compared to patients in other regions.
  • Patients with the Val122Ile mutation showed a higher burden of neurological symptoms and worse quality of life, while survival analysis indicated that advancing age and lower mean arterial pressure are key factors linked to increased mortality, rather than specific
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Study Question: What is the success rate in terms of ovarian activity (menstrual cycles) as well as pregnancy and delivery rates 1 year after orthotopic ovarian transplantations conducted in a three-country network?

Summary Answer: In 49 women with a follow-up >1 year after transplantation, the ovaries were active in 67% of cases and the pregnancy and delivery rates were 33 and 25%, respectively.

What Is Known Already: Cryopreservation of ovarian tissue in advance of cytotoxic therapies and later transplantation of the tissue is being performed increasingly often, and the total success rates in terms of pregnancy and delivery have been described in case series. However, published case series have not allowed either a more detailed analysis of patients with premature ovarian insufficiency (POI) or calculation of success rates based on the parameter 'tissue activity'.

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Degradation of intestinal mRNA: a matter of treatment.

World J Gastroenterol

March 2015

Sabine Heumüller-Klug, Karin Kaiser, Elvira Wink, Cornelia Hagl, Lucas Wessel, Department of Pediatric Surgery Mannheim, Medical University of Heidelberg, 68167 Mannheim, Germany.

Aim: To characterize the influence of location, species and treatment upon RNA degradation in tissue samples from the gastrointestinal tract.

Methods: The intestinal samples were stored in different medium for different times under varying conditions: different species (human and rat), varying temperature (storage on crushed ice or room temperature), time point of dissection of the submucous-mucous layer from the smooth muscle (before or after storage), different rinsing methods (rinsing with Medium, PBS, RNALater or without rinsing at all) and different regions of the gut (proximal and distal small intestine, caecum, colon and rectum). The total RNA from different parts of the gut (rat: proximal and distal small intestine, caecum, colon and rectum, human: colon and rectum) and individual gut layers (muscle and submucosal/mucosal) was extracted.

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It was suggested that endostatin, an angiogenic mediator, is influenced by physical exercise. We performed bicycle stress testing in 88 healthy non-smoking female and male individuals, divided into athlete and non-athlete groups. Serum endostatin and norepinephrine were measured at rest, after reaching maximum workload and after 20 min of recovery.

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Neurocircuit function in eating disorders.

Int J Eat Disord

July 2013

Department of General Internal Medicine and Psychosomatics, Medical University of Heidelberg, Heidelberg, Germany.

Objective: Eating disorders are serious psychosomatic disorders with high morbidity and lifetime mortality. Inadequate response to current therapeutic interventions constitutes a challenging clinical problem. A better understanding of the underlying neurobiological mechanisms could improve psychotherapeutic and drug treatment strategies.

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