Search for: "rare diseases" - 250 articles found

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Article • Need for diversity in training datasets

Artificial intelligence in healthcare: not always fair

Machine learning and AI are playing an increasingly important role in medicine and healthcare, and not just since ChatGPT. This is especially true in data-intensive specialties such as radiology, pathology or intensive care. The quality of diagnostics and decision-making via AI, however, does not only depend on a sophisticated algorithm but – crucially – on the quality of the training data.

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Article • Diagnostic assistant systems

AI in endoscopy: helper, trainer – influencer?

Artificial intelligence (AI) is increasing its foothold in endoscopy. Although the algorithms often detect pathologies faster than humans, their use also generates new problems. PD Dr Alexander Hann from the University Hospital Würzburg points out that the use of AI helpers can affect not only the reporting of findings – but also the person making the findings.

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Article • Infection prevention

Vaccination: why ‘positive consensus’ is crucial

Vaccination projects across the world are at a pivotal post-Covid moment, according to one of the leading experts in the field. Speaking to Healthcare in Europe ahead of the World Innovation Summit for Health (WISH) congress in Qatar – where vaccination will be a central topic – Dr Jerome Kim said there is an urgent need to regain a ‘positive consensus’ around the value of vaccines. He…

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Sponsored • Covid-19 management

Rapid and robust PCR testing for infectious diseases at Innklinikum Altötting and Mühldorf

The Covid-19 pandemic has highlighted the importance of the fast and accurate diagnosis of infectious diseases in clinical settings. Harald Maier discusses the implementation of rapid molecular diagnostics in the central clinical diagnostics laboratory at Innklinikum Altötting and Mühldorf, highlighting how the use of PCR testing has benefitted the hospital during the Covid-19 pandemic.

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News • Fibrodysplasia ossificans progressiva

FOP: Origin of rare disease

A mutation in the gene that causes fibrodysplasia ossificans progressiva (FOP) doesn’t just cause extra bone growth but is tied to a problem in generating new muscle tissue after injury.

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Article • Subset of wearables

From the wrist into the ear – the potential of hearables

Progress in miniaturising sensor technology has opened up new possibilities for monitoring vital signs outside the hospital environment. A subset of wearables are the so-called hearables – in-ear devices that are well suited for long-term monitoring as they are non-invasive, inconspicuous and easy to fasten. Hearables offer two major benefits: their proximity to the torso and vascular system of…

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Article • Mass spec, qPCR and more

Newborn screening: early detection – new diagnostic possibilities

Since its introduction around 60 years ago, the screening of newborn babies for immune, hormone and metabolic disorders has prevented many people from experiencing severe disease progression. The scope of systematic early testing has been significantly enhanced through mass spectrometry (MS). In our interview, Professor Uta Ceglarek, one of the driving forces behind the introduction of MS…

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News • DNA analysis

Should all babies have their genome sequenced at birth?

Genomics England, a government owned company, recently announced a pilot programme of whole genome sequencing to screen for genetic diseases in 200,000 healthy seeming newborns. But should every newborn baby have their whole genome sequenced? Experts debate the issue in The BMJ. Extensive clinical evidence has shown that screening for genetic diseases saves lives, and research has shown that it…

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Article • New EU regulation

Lab tests: Watch out! Conflict ahead

In May 2022 a shortage of several lab tests may come as many manufacturers struggle to comply with EU regulation requirements covering in vitro diagnostic medical devices (IVDR, Regulation (EU) 2017/746). Even modified tests and laboratory-developed tests will present a problem for hospitals and labs as explained by Dr Thomas Streichert.

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News • Rare liver disease

New test improves diagnosis of autoimmune hepatitis

Autoimmune hepatitis (AIH) is a chronic liver inflammation that is triggered by an immunological malfunction. In this case, the immune system falsely recognises the patient's own liver cells as "foreign to the body". The symptoms of this rare liver disease are unspecific, and the exact cause is not yet known. If left untreated, AIH can lead to abnormal scarring (fibrosis) of the liver,…

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News • Prevention of toxic DNA lesions

Promising mechanism to stop Huntington's progression

A new mechanism that stops the progression of Huntington’s disease in cells has been identified by scientists at the University of Cambridge and University College London (UCL), as part of their research groups at the UK Dementia Research Institute. Researchers say the breakthrough study, published in Cell Reports, could lead to much needed therapies for the rare genetic disease, which is…

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News • Compulsory coronavirus prevention

Should Covid-19 vaccination be mandatory for health and care staff?

Italy, France, and Greece have made Covid-19 vaccination mandatory for healthcare workers, and England is making it compulsory for care home workers and consulting on whether to extend this to healthcare workers and other social care staff. Experts debate in The BMJ whether frontline health and social care workers should be compelled to take up the vaccine, if efforts to encourage them fail.…

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News • Antisense therapy update

Huntington's disease: setback for study of promising agent

Roche announced the decision to discontinue dosing in the Phase III GENERATION HD1 study of tominersen (previously IONIS-HTTRx and RG6042) in manifest Huntington’s disease (HD). The decision was based on the results of a pre-planned review of the data from the Phase III study conducted by an unblinded Independent Data Monitoring Committee (iDMC). The iDMC made its recommendation based on the…

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Article • Oncology

Pancreatic cancer - current challenges and future direction

Pancreatic cancer is one of the deadliest cancers in the world, and one of the most difficult to treat. In 2020, an estimated 495,000 individuals worldwide were diagnosed with pancreatic cancer and an estimated 466,000 died, according to statistics from the World Health Organization’s International Agency for Research on Cancer. Most patients with advanced disease die within a year of…

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News • Unprecedented improvements

Gene therapy 'reprograms' cells to reverse AADC deficiency

A novel method of gene therapy is helping children born with a rare genetic disorder called AADC deficiency that causes severe physical and developmental disabilities. The study, led by researchers at The Ohio State University Wexner Medical Center and The Ohio State University College of Medicine, offers new hope to those living with incurable genetic and neurodegenerative diseases.

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News • Pediatric oncology cooperation

A royal visit for children with cancer

Queen Máxima of the Netherlands, after whom the Princess Máxima Center for Pediatric Oncology in Utrecht is named, along with several representatives of the center, the Hopp Children’s Cancer Center Heidelberg (KiTZ), University Hospital Heidelberg (UKHD) and the German Cancer Research Center (DKFZ), signed a memorandum on strategic cooperation in the field of pediatric oncology in Europe at…

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Article • Personalised medicine

'Body-on-a-chip' technology boosts drug development

Integrating laboratory functions on a microchip circuit is helping improve the cost-effectiveness of drug development. So-called ‘lab-on-a-chip’ or ‘human-on-a-chip’ technology can highlight which treatments may, or may not, work before advancing along the clinical trial process. It can also have benefits for chronic and rare diseases, as well as helping shape personalised medicine.…

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News • Safe sonography

Medical societies support safety and benefits of ultrasound contrast agents

The American Institute of Ultrasound in Medicine (AIUM) and the American Society of Echocardiography (ASE) have joined the International Contrast Ultrasound Society (ICUS) in recognizing the relatively low risk and important clinical benefits of ultrasound contrast agents (UCAs), which are used routinely around the world to help detect heart disease, stratify the risk of heart attack or stroke,…

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News • Challenges of an aging society

Dementia and gun ownership: an issue that needs regulation

In Sweden, there are over 2 million legally owned firearms. At the same time, up to 150,000 people live with a diagnosis of dementia. In an aging society such as Sweden, legislators will face challenges in gun ownership. A new registry-based observational study by researchers from NVS, Karolinska Institutet, published in the Journal of Alzheimer’s Disease shows a need for strategies for this…

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News • Understanding myelination

Multiple sclerosis: Mini '3D brains' to speed up research

Tiny 3D models that mimic vital aspects of the human nervous system have been developed in a step that could accelerate drug research for neurological conditions such as multiple sclerosis (MS). The millimetre-wide models – created using stem cells from human skin samples – will be used to study myelin, an insulating substance that helps nerve cells communicate with each other. Researchers…

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News • Oncology meets history

Medieval cancer rates much higher than previously thought

CT scanning used to uncover remnants of malignancy hidden inside medieval bones provides new insight into cancer prevalence in a pre-industrial world. The first study to use x-rays and CT scans to detect evidence of cancer among the skeletal remains of a pre-industrial population suggests that between 9-14% of adults in medieval Britain had the disease at the time of their death. This puts cancer…

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News • Intrahepatic cholangiocarcinoma

A new approach for treating bile duct cancer

Intrahepatic cholangiocarcinoma (ICC) develops within the liver. With one to two cases per 100,000 inhabitants in Germany, ICC is one of the rare diseases overall, but it is the second most common liver cancer. The aggressive bile duct tumour remains clinically inconspicuous for a long time, so that it is often only detected late. Because the tumour also only responds to chemotherapy to a limited…

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News • Immune response in pregnant and lactating women

Mothers pass on Covid-19 protection to their babies after vaccination

In the largest study of its kind to date, researchers at Massachusetts General Hospital, Brigham and Women’s Hospital and the Ragon Institute of MGH, MIT and Harvard have found the new mRNA Covid-19 vaccines to be highly effective in producing antibodies against the SARS-CoV-2 virus in pregnant and lactating women. They also demonstrated the vaccines confer protective immunity to newborns…

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News • Covid-19 impact on vaccination

Antibiotic resistance could make diphtheria ‘major global threat’ again

Diphtheria – a relatively easily-preventable infection – is evolving to become resistant to a number of classes of antibiotics and in future could lead to vaccine escape, warn an international team of researchers from the UK and India. The researchers, led by scientists at the University of Cambridge, say that the impact of Covid-19 on diphtheria vaccination schedules, coupled with a rise in…

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News • Delay in treatment for serious illness

Digital Covid-19 'symptom checkers' may do more harm than good

Digital Covid-19 ‘symptom checkers’ may stop some patients from getting prompt treatment for serious illness, suggests an international case simulation study. Both the US and UK symptom checkers consistently failed to identify the symptoms of severe Covid-19, bacterial pneumonia, and sepsis, frequently advising these cases to stay home, the findings indicate. The availability and use of…

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News • Tiny changes, huge effects

Finding causes of disease with induced pluripotent stem cells

Induced pluripotent stem cells (iPSC) are suitable for discovering the genes that underly complex and also rare genetic diseases. Scientists from the German Cancer Research Center (DKFZ) and the European Molecular Biology Laboratory (EMBL), together with international partners, have studied genotype-phenotype relationships in iPSCs using data from approximately one thousand donors. Tens of…

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Article • Finding solutions for radiology tasks

Putting AI algorithms under the microscope

With a growing number of Artificial Intelligence (AI) algorithms to support medical imaging analysis, finding the best solution for specific radiology tasks is not always straightforward. Many are cloaked in secrecy and commercial sensitivity and while an algorithm may perform well in one area, evidence of performance and adaptability in another environment is not always available.

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Article • A significant opportunity for radiologists

Fostering a strong eco-system for AI in medical imaging

One of the leading figures in global radiology has highlighted the importance of fostering a strong eco-system to advance the safe and effective implementation of AI in medical imaging. Dr Geraldine McGinty said that to fully leverage the power of AI, all stakeholders must work together but underlined the unique responsibility physicians have to ensure patient interests are best served.

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Article • Healthcare facilities analysed

Cutting Coronavirus air contamination in hospitals

Preventing air contamination in healthcare facilities is crucial to minimise the airborne spread of Covid-19 and its new strains. Universal masking, rigorous use of and safe disposal of PPE, plus building ventilation are vital. Twenty-four studies reporting hospital SARS-CoV-2 air contamination are summarised in a meta-analysis by a multi-institutional team of French researchers. These show that,…

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News • 53,831 genomes analysed

Rare diseases: huge dataset brings new insights

Researchers at the University of Maryland School of Medicine (UMSOM) and their colleagues published a new analysis from genetic sequencing data of more than 53,000 individuals, primarily from minority populations. The early analysis, part of a large-scale program funded by the National Heart, Lung, and Blood Institute, examines one of the largest and most diverse data sets of high-quality whole…

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News • Detecting depression, psychosis

Machine learning could aid mental health diagnoses

A way of using machine learning to more accurately identify patients with a mix of psychotic and depressive symptoms has been developed by researchers at the University of Birmingham. Patients with depression or psychosis rarely experience symptoms of purely one or the other illness. Historically, this has meant that mental health clinicians give a diagnosis of a ‘primary’ illness, but with…

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News • Frequently Asked Questions

What patients want to know about Covid-19 vaccine

This FAQ from the American College of Allergy, Asthma and Immunology is provided to help answer patient questions about COVID-19 vaccines. These recommendations are based on best knowledge to date, but could change at any time, pending new information and further guidance from the FDA or CDC.

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News • Protein anchors

Key molecule in cancer spread and epilepsy discovered

Certain anchor proteins inhibit a key metabolic driver that plays an important role in cancer and developmental brain disorders. Scientists from the German Cancer Research Center (DKFZ) and the University of Innsbruck, together with a Europe-wide research network, discovered this molecular mechanism, which could open up new opportunities for personalized therapies for cancer and neuronal diseases.

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Article • He who seeks, finds

Pros and cons of MRI in breast cancer diagnosis

MRI is the most sensitive method to detect breast cancer. However, the current breast cancer guidelines for Europe, Germany and Austria, still only recommend it for certain indications: For early detection in high risk patients, for differentiation between scarring and recurrences after breast-conserving treatment and to detect cancers of unknown primary site. This is the theory. However, in…

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News • The role of the MLL4 gene

New insights on the Kabuki syndrome

Scientists have known for years that mutations in the MLL4 gene can cause Kabuki syndrome, a rare developmental disorder. How exactly this happens remeained a mystery for long. Now, a new study illuminates new details. The research suggests that MLL4 controls the production of neurons that secrete growth hormone-releasing hormone (GHRH) in a part of the brain called the hypothalamus. Mice without…

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News • Coronavirus risk assessment

Investigating the risk of severe Covid-19 in children

So far, little research has been done on the risk of children being seriously affected by Covid-19 when the schools were open. A study from Karolinska Institutet has now shown that one child in 130,000 was treated in an intensive care unit on account of Covid-19 during the period March-June. The study has been published in New England Journal of Medicine.

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News • Cardiac complications

Immunotherapy drugs can lead to higher risk of heart problems

A study of over a thousand cancer patients treated with immunotherapy drugs has found these patients are at greater risk of heart problems, including death from heart attack or stroke. The patients had either lung cancer or malignant melanoma (a type of skin cancer), for which immune checkpoint inhibitors such as a programmed cell death-1 (PD1) inhibitors or cytotoxic T-lymphocyte-associated…

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Video • Resistance pulse

New study reveals how melanoma cells survive targeted therapies

In recent years, targeted therapies have cemented their place as some of the most important tools in cancer treatment. These medicines are designed to block specific signals that tumor cells use to grow and spread, while at the same time leaving normal cells unharmed. Targeted therapies can significantly extend patients’ lives, but the benefits are often only temporary. Over time, many cancers…

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Article • Coronavirus imaging

Covid-19: Is CT more sensitive than PCR testing?

Covid-19 causes characteristic changes in lung tissue visible in CT scans and chest radiographs, known as “ground-glass” opacities. Imaging is now considered a valid alternative, possibly even superior to RT-PCR. ‘This sparked an international debate about the role of CT in the diagnostic work-up of Covid-19,’ said radiologist Professor Cornelia Schäfer-Prokop.

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Article • Distinguishing arteriopathies

Deterring paediatric acute stroke

Acute stroke in children has the same incidence as brain tumours and can seriously affect a patient’s life. Two kinds of arteriopathies are common drivers of paediatric acute stroke and radiologists must learn to distinguish their signs as early as possible to improve prognosis, according to Béatrice Husson, a paediatric radiologist at Le Kremlin Bicêtre Hospital in Paris.

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Article • Improving diagnosis

Multiparametric ultrasound finds causes for male infertility

Infertility has long been attributed to women alone, but medical advances have shown it really is a couple’s problem, with 20% of couples presently having trouble conceiving. Medical imaging, in particular ultrasound, can help identify underlying causes of men’s infertility and other related health issues, an Italian radiologist explained during the last European Congress of Radiology.

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Article • Alternative for mammography

Breast cancer screening: Does the future belong to the abbreviated MRI?

Is mammography still the best method for breast cancer screening? For a number of breast cancers, the latest scientific findings suggest otherwise. For more than a decade, Professor Christiane Kuhl MD, Director of the Clinic for Diagnostic and Interventional Radiology at the University Hospital RWTH Aachen, has researched the use of MRI in breast cancer screening.

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News • One mouse at a time

New approach to testing potential drugs for children’s cancers

A team of researchers in the US and Australia have developed a way of testing potential drugs for children’s cancers so as to take account of the wide genetic diversity of these diseases. In new research to be presented at the 32th EORTC-NCI-AACR Symposium on Molecular Targets and Cancer Therapeutics, Professor Peter Houghton, director of the Greehey Children’s Cancer Research Institute (San…

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News • COVID immunity research

Coronavirus re-infection: what we know so far – and the vital missing clues

As President Trump claims that he is immune to COVID-19 and isolated reports emerge of reinfection, what is the truth about immunity to COVID-19? To date, there have been six published cases of COVID-19 reinfection, with various other unverified accounts from around the world. Although this is a comparably small fraction of the millions of people known to have been infected, should we be…

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News • Zika and chikungunya

Mosquito-borne viruses could cause stroke

A deadly combination of two mosquito-borne viruses may be a trigger for stroke, new research published in the The Lancet Neurology has found. University of Liverpool researchers and Brazilian collaborators have been investigating the link between neurological disease and infection with the viruses Zika and chikungunya. These viruses, which mostly circulate in the tropics, cause large outbreaks of…

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Sponsored • Distant experts observe adverse signs

Remote cardiac monitoring

For cardiology patients fitted with an implantable cardiac monitor, cardioverter defibrillator (ICD) or pacemaker, home monitoring is a blessing. The system also has many advantages for medical staff, as Kristina Rauholt reports. The nurse and Certified Cardiac Device Specialist for Allied Professionals (CCDS) at the Sahlgrenska University Hospital, in Sweden, has worked with home monitoring…

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News • Neuronal disorder

Tracking the onset of ataxias

“Spinocerebellar ataxias” are diseases of the nervous system associated with a loss of motor coordination. A European research alliance headed by the German Center for Neurodegenerative Diseases (DZNE) and the University of Bonn has now registered whether and how symptoms of ataxia developed over the years in around 250 persons at risk, who initially did not show symptoms. This is the first…

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News • Early detection

Prostate cancer risk: The role of relatives

If a father or brother has prostate cancer, his son or brother has an increased risk of this type of cancer. Whether this also applies when precancerous stages of this cancer are discovered in relatives has not yet been known. Now scientists have analyzed data from more than six million men to find out how high the risk of prostate cancer is in this case. Researchers at the German Cancer Research…

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Article • Sterilising with VHP, EO or HPGP

Sterilisation study puts cleansing methods to the test

A new study from the USA highlights how low temperature sterilisation can jeopardise effective cleansing of medical tools and lead to transmission of dangerous bacteria to patients. Steam sterilisation was shown to be the most effective and robust sterilisation technology. However, the researchers, working at the University of North Carolina, also showed that vaporised hydrogen peroxide (VHP)…

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News • Fossilised findings

Study shows: Even dinosaurs had cancer

A collaboration led by the Royal Ontario Museum (ROM) and McMaster University has led to the discovery and diagnosis of an aggressive malignant bone cancer — an osteosarcoma — for the first time ever in a dinosaur. Examples of malignant cancers are very rare in the fossil record. The paper was published in the journal The Lancet Oncology. The cancerous bone in question is the fibula (lower…

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News • Dietary dangers

Sugar consumption: a driving factor in onset of pancreatic cancer

A diet high in sugar increases the likelihood of developing pancreatic cancer in some people and can also drive the aggressive growth of tumours, a new study finds. During this study, researchers from the University of Surrey, VIB-KU Leuven, Belgium and the Babraham Institute in Cambridge, sought to understand the impact of diet on the development and progression of pancreatic cancer. This rare…

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News • Congenital defect reconstruction

Pectus Excavatum: First-in-human trial of novel reconstruction scaffold

Medtech company BellaSeno announced the initiation of a first-in-human trial of its novel, absorbable soft tissue reconstruction scaffold (Senella). A patient with Pectus Excavatum congenital defect has undergone surgery at Princess Alexandra Hospital in Brisbane, Australia, earlier this month. The procedure was performed by Dr. Michael Wagels, Principal Investigator of the trial and Plastic and…

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Article • Digital pathology

VIPR: Deep learning for small cohorts

To investigate rare diseases, applying image-based analytics approaches, including the use of deep learning convolutional neural networks (DL-CNNs), can be a major challenge due to great difficulties in acquiring sufficient numbers of cases and associated digital image sets from the small cohorts typically available. To realise algorithms that are both effective and generalisable, conventional…

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News • Ophthalmology

Nanoparticles for gene therapy cure eye diseases

Johns Hopkins scientists report the successful use of nanoparticles to deliver gene therapy for blinding eye disease. A uniquely engineered large molecule allows researchers to compact large bundles of therapeutic DNA to be delivered into the cells of the eye.

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Article • Paediatric health risks

Children in the COVID-19 pandemic: Between fear and care

The COVID-19 pandemic has affected children with direct impacts of the infection as well as on them leading normal lives. Schooling, play and vaccinations are among issues that can affect children’s health. Delay in taking paediatric patients to the emergency room (ER) has also had a negative impact, for example late treatment of acute appendicitis. Two experts from Spain tackled these topics…

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News • Immunology

COVID-19 study reveals universally effective antibodies

The first round of results from an immunological study of 149 people who have recovered from COVID-19 show that although the amount of antibodies they generated varies widely, most individuals had generated at least some that were intrinsically capable of neutralizing the SARS-CoV-2 virus. Antibodies vary widely in their efficacy. While many may latch on to the virus, only some are truly…

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News • Experts express concerns

EDQM Blood Guide could make Europe more dependent on US plasma

The Plasma Protein Therapeutics Association (PPTA) is concerned about the recommendations contained in 20th version of Blood Guide of The European Directorate for the Quality of Medicines (EDQM) which aims to harmonise standards and recommendations on blood collection, preparation, and the use of blood and blood components. This Guide, if applied, will have a negative impact on the availability…

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Article • Lab medicine in the Netherlands

Digital pathology: From over-promising to a reality check

Almost five years ago, the plan to implement a wide-ranging digital pathology approach across the Netherlands began to take shape. As more labs across the country acquire digital pathology capability, with steps to create a strong and accessible image repository and a national image exchange platform, one of the project leaders, Professor Katrien Grünberg, offered an update and spoke of some…

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Article • A more integrative approach to digital pathology

imCMS: The door to simple, cheap, reliable bio-stratification

Bringing molecular and digital pathology closer together through a more integrative approach can lead to clear advantages for diagnostic and research workflows. During the recent Digital Pathology and AI Congress (London), Professor Viktor Koelzer explored the benefits and paid particular attention to colorectal cancer (CRC).

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Article • Seeking an ideal lab life

New and old challenges in laboratory medicine

The Central Laboratory at the Medical University Hanover, Germany, is prepared to handle virtually any clinical chemistry task, from a routine test to the most complex analysis. Equipped with state-of-the-art technology and thanks to a high degree of automation, the team can process more than 3,000 specimens, mostly blood and urine, in a single day. Professor Ralf Lichtinghagen, European…

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Article • Tools for practitioners

Computational pathology: Heading for personalised medicine

Computational pathology has increased applications for diagnosis, prediction of prognosis and therapy response, facilitating the movement of healthcare towards personalised medicine. Coupled with deep learning, such tools are ever more efficient and robust within research and clinical settings. The growing role of computational pathology was highlighted by Professor Andrew Janowczyk at the…

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Interview • Chest X-ray, CT and more

Imaging the coronavirus disease COVID-19

Chest X-ray is the first imaging method to diagnose COVID-19 coronavirus infection in Spain, but in the light of new evidence this may change soon, according to Milagros Martí de Gracia, Vice President of the Spanish Society of Radiology (SERAM) and head of the emergency radiology unit at La Paz Hospital in Madrid, one of the hot spots for viral re-production of COVID-19.

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News • Surprising discovery

Fatty liver disease can also affect lean people

Non-alcoholic fatty liver disease (NAFLD) is mostly diagnosed in overweight and obese people. However, severe forms of NAFLD can also be detected in rare genetic diseases such as lipodystrophy or in patients with HIV, putting them at a high risk for developing liver failure, diabetes and cardiovascular diseases. Norbert Stefan and colleagues have now detected a yet unknown cause of NAFLD in lean…

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News • Medulloblastoma

Brain cancer mechanism might give insights into many tumour types

A surprising discovery about a rare form of childhood brain cancer suggests a new treatment approach for that cancer – and potentially many others. Researchers at the University of Virginia School of Medicine have determined that the supposedly simple cancer, called medulloblastoma, forms an unexpectedly intricate network to drive its growth. Some tumor cells actually turn into another type of…

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Article • AI in medical care

'The brain sits on front of the screen'

AI has made headlines for years, including in such scientific publications as ‘Nature’, an indication of its high relevance, according to Dr Tobias Müller, Head of Digital Transformation at the Rhön-Klinikum AG. However, he also delivers a note of caution because studies are often aimed at demonstrating the equivalence of AI-based diagnoses with those made by doctors. ‘You have to read…

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Article • Surgery to reduce obesity-related mortality

When diet and excercise alone are not enough

Obesity not only means someone is overweight but, over time, they will probably suffer sequelae that increasingly impair quality of life and are potentially fatal – these include hypertension, coronary heart disease, type two diabetes, pulmonary function disorders, tumours, plus an increased risk during surgery and anaesthesia. In patients with morbid obesity, class three obesity, according to…

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News • CYLD cutaneous syndrome

Breakthrough in understanding CCS skin disease

For the first time, scientists at Newcastle University have identified changes in the DNA of the tumour cells in those with CYLD cutaneous syndrome (CCS) that may help them grow. A study published in Nature Communications suggest that the tumour cells gain a ‘survival advantage’ when the changes occur – an important step in understanding ways to develop treatments. CCS is a hereditary…

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News • EMA recommandation for Ervebo

Ebola: first vaccine to protect against deadly virus

It is an important step towards fighting one of the deadliest viruses known to man: The human medicines committee (CHMP) of the European Medicines Agency (EMA) has recommended granting a conditional marketing authorisation in the European Union for Ervebo (rVSVΔG-ZEBOV-GP), the first vaccine for active immunisation of individuals aged 18 years and older at risk of infection with the Ebola virus.…

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News • Prototype program

App to detect eye disorders in children

A smartphone application has been developed that can help parents detect early signs of eye disease by searching their children’s photographs for traces of leukocoria, also known as “white eye”. The CRADLE app (ComputeR Assisted Detector LEukocoia) searches for traces of abnormal reflections from the retina called leukocoria or “white eye,” a primary symptom of retinoblastoma, as well…

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Article • AI in diagnostics

Learn like a human, deduce like a machine

Artificial Intelligence (AI) is like a huge blanket that can cover anything from innocuous chess computers to robots which, depending on your viewpoint, could save, oppress or obliterate humanity. However, not every jar labelled AI contains AI. So what is intelligence and can it be created artificially, synthesised like a nature-identical flavouring substance?

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News • Vascular surgery

New lease of life thanks to new aorta

Patients with the rare Loeys-Dietz syndrome suffer from aortic enlargement which may result in sudden over-expansion and a fatal aortic tear. In order to prevent this from happening, an aortic prosthesis must be implanted. A team of vascular surgeons at the University Hospital of Zurich was one of the first in the world to risk undertaking this life-saving operation on a child as an emergency…

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News • CRISPR-Cas vs MDC1A

Undoing the damage of muscle dystrophy

A new technology has brought researchers one step closer to a future cure for Congenital Muscular Dystrophy type1A, a devastating muscle disease that affects children. The new findings are based on research by Kinga Gawlik at Lund University, Department of Experimental Medical Science, and were recently published in Nature. Congenital Muscular Dystrophy type1A, MDC1A, a progressive genetic…

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News • Hypothyroidism

Underactive thyroid: Study validates treatment guidelines

A study led by the University of Birmingham provides strong support for current recommendations on treating patients with an underactive thyroid and validates latest UK and US guidelines, say researchers. The retrospective cohort study, published in The BMJ, analysed anonymous GP records of over 162,000 patients who have been diagnosed with hypothyroidism – a highly prevalent condition more…

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News • Bleeding disorder

Hemophilia: a lot more prevalent than thought

More than 1,125,000 men around the world have the inherited bleeding disorder of hemophilia, and 418,000 of those have a severe version of the mostly undiagnosed disease, says a new study led by McMaster researchers. This is three times what was previously known. Only 400,000 people globally were estimated to have the disorder which is caused by a defect in the F8 or F9 gene which encodes…

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News • Rare lung disease

FDA approval for scleroderma treatment

The U.S. Food and Drug Administration approved Ofev (nintedanib) capsules to slow the rate of decline in pulmonary function in adults with interstitial lung disease associated with systemic sclerosis or scleroderma, called SSc-ILD. It is the first FDA-approved treatment for this rare lung condition. “Patients suffering from scleroderma need effective therapies, and the FDA supports the efforts…

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Article • Highlights from the 30th TCT Meeting

Advancing transcatheter cardiovascular therapies

A remarkable number of studies and innovations were presented at the 30th anniversary of Transcatheter Cardiovascular Therapeutics (TCT) meeting in San Diego, California. TCT 2019 will take place in San Francisco, CA between 25-29-Sep-2019. On the clinical side, the long-expected results from COAPT trial studying MitraClip device in patients with secondary mitral regurgitation and heart failure…

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Article • PRIMAGE project

Aiming AI at lethal paediatric tumours

La Fe University and Polytechnic Hospital in Valencia, Spain, is coordinating EU-funded program PRIMAGE, which uses precision information from medical imaging to advance knowledge of the most lethal paediatric tumours, by establishing their prognosis and expected treatment response using radiomics, imaging biomarkers and artificial intelligence (AI).

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News • Draft guidance

FDA: Include male breast cancer patients in trials

In its latest draft guidance, the U.S. Food and Drug Administration (FDA) encourages inclusion of males in breast cancer clinical trials. Historically, males either have not been included in clinical trials for drugs to treat breast cancer or inclusion of males in those trials has been very limited; when finalized, the draft guidance will provide clarity for industry regarding clinical…

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News • Alternative ways

Plan B for cholesterol transport

Kiel biochemistry research team proves the existence of a previously unknown alternative cholesterol transport mechanism inside cells. Cholesterol is a vital cell building block in humans and animals, and an integral part of the so-called cell membrane. This boundary layer separates the interior of the cell from the neighbouring cells and the surrounding environment. By means of certain proteins,…

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Article • Personalized medicine

Exploring the potential of High-Content Screening

The key challenges and opportunities surrounding High-Content Screening have been outlined in a presentation to leading scientists and technologists at a major lab conference. Speaking at the recent SLASEurope 2019 event in Barcelona, Professor Matthias Nees from the Institute of Biomedicine in the Department of Biology at the University of Turku, Finland, outlined the potential of High-Content…

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News • Not just the climate changes

Global warming might be behind the rise of Candida auris

Global warming may have played a pivotal role in the emergence of Candida auris. According to a new study published in mBio, an open-access journal of the American Society for Microbiology, C. auris, which is often multi-drug resistant and is a serious public health threat, may be the first example of a new fungal disease emerging from climate change.

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Article • Microbiology & hygiene

HAIs are one problem – MDROs another

In view of the increase of multidrug-resistant organisms (MDRO), the WHO has declared antibiotic resistance one of the biggest threats to global health. MDROs have become a major problem particularly in hospitals. Professor Dr Georg Häcker from the Institute for Microbiology and Hygiene at the University Hospital Freiburg, explains some strategies to prevent hospital-acquired infections (HAIs).

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News • Study

Half of Ebola outbreaks go undetected

Half of Ebola outbreaks have gone undetected since the virus was discovered in 1976, scientists at the University of Cambridge estimate. The new findings come amid rising concern about Ebola in the Democratic Republic of Congo, and highlight the need for improved detection and rapid response to avoid future epidemics.

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News • Up in smoke

Early exposure to nicotine predisposes brain to addiction

Neonatal exposure to nicotine alters the reward circuity in the brains of newborn mice, increasing their preference for the drug in later adulthood, report researchers at University of California San Diego School of Medicine in a study published in Biological Psychiatry. A UC San Diego School of Medicine team of scientists, headed by senior author Davide Dulcis, PhD, associate professor in the…

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Article • Point-of-Care Testing

POCT: A coordination office is necessary

Point-of-care testing (POCT) is complex and its development continues due to digitisation in healthcare and increasing international partnerships among the healthcare actors. In a hospital, a number of factors need consideration to fully exploit the potential of bedside testing. POCT instruments and analysis methods must be thoroughly validated and quality assurance processes be in place.…

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Interview • Neurology

On-going malignant astrocytoma vaccine tests

A new vaccination for malignant astrocytoma brings such patients hope. However, research is still in its infancy. We spoke with Professor Michael Platten, Medical Director of the Neurological Clinic at Medical University Mannheim, about the present state of research and the serious opportunities this presents. During the interview, he also revealed how cooperation with the pharmaceutical industry…

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News • Transthyretin amyloid cardiomyopathy

New treatments for rare disease ATTR-CM approved

The U.S. Food and Drug Administration (FDA) approved Vyndaqel (tafamidis meglumine) and Vyndamax (tafamidis) capsules for the treatment of the heart disease (cardiomyopathy) caused by transthyretin mediated amyloidosis (ATTR-CM) in adults. These are the first FDA-approved treatments for ATTR-CM. Vyndaqel and Vyndamax have the same active moiety, tafamidis, but they are not substitutable on a…

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Video • Personalized treatment

Genome analytics become affordable for daily hospital use

Today, on the occasion of the international DNA day, imec, a world-leading research and innovation hub in nanoelectronics and digital technologies, and its partners revealed their Genome Analytics Platform (GAP) platform, a unique platform that can perform a full genome analysis of 48 samples in only 48 hours and at an acceptable cost. The platform paves the way to genome sequencing as a daily…

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News • Rare bone cancer

Targeted approach to therapy for chordomas

Chordomas are rare bone tumors for which only few options of treatment exist. Scientists and doctors from the National Center for Tumor Diseases (NCT), the German Cancer Research Center (DKFZ), and Heidelberg University Hospital (UKHD) have discovered a particular genetic trait of chordomas in advanced stages after conducting gene analysis. Their findings, published in the journal Nature…

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News • Endocrinology

Predicting the outcome for newborns with congenital hyperinsulinism

Babies born with congenital hyperinsulinism (CHI) are at risk of suffering from permanent brain damage and life-long disability. Yet some will go on to suffer more severely than others as a result of their disease profile, report the researchers in an article published in Frontiers in Endocrinology. The research team have found that it is possible to predict when and how the disease may affect…

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Article • Neurological complications

Enterovirus infections: The disease is rare and research scant

Neurological complications due to infections with (novel) enteroviruses are rarely the focus of medical research. Thus, an article published in the German medical journal Der Nervenarzt (published at the Medizinische Hochschule Hanover (MHH) – has created quite a stir. We spoke with one of the authors, Professor Martin Stangel, about current clinical practice in terms of enterovirus.…

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Article • Man and machine

The radiologist as today’s centaur

Artificial intelligence (AI) continues to drive radiologists’ discussions. Among them, Associate Professor Georg Langs, head of the Computational Imaging Research Lab (CIR) at the University Clinic for Radiology and Nuclear Medicine at the Medical University of Vienna, believes: ‘The evaluation of patterns in data from imaging examinations and clinical information about patients using machine…

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Article • T-2-weighted imaging

When the brain turns white

White matter on the brain is a difficult subject. Even the terminology is varied, making differential diagnosis complex. An understanding of prevalence and of the tools available to facilitate the diagnosis of individual diseases is important, Dr Gunther Fesl, radiologist at Praxis Radiologie Augsburg, explains.

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News • Healthy ageing

Killing zombie cells to save our heart

Scientists at Newcastle University believe it may be possible to reverse the damage in the heart caused by ageing. New research, which has been published in the journal EMBO, could suggest a new way of preventing heart failure in older patients. Heart failure occurs when the heart is not pumping blood around the body as well as it should, most commonly when the heart muscle has been damaged –…

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Article • Endoprosthetics

Joint efforts: New guidelines for arthroplasty

According to the Swedish Knee Arthroplasty Register, knee arthroplasty – with a revision rate of five percent after ten years – is one of the most successful surgical interventions of the post-World War II decades. The most frequent reasons for revision are loosening or infections, whereas patient dissatisfaction is often caused by mobility impairment and pain. Since many adverse events are…

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News • AI, IT, data management

Digital attack on cancer

Several research groups at Berlin Institute of Health (BIH) are working on digitally combating cancer. The main goal is to combine and jointly evaluate existing information. With 500,000 new cancer cases every year in Germany alone, it is worthwhile comparing experiences with different diagnostic and treatment methods, thus allowing more patients to benefit from the most promising approaches. In…

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News • Hope for diabetics

Insulin-producing cells grown in lab

UC San Francisco researchers have for the first time transformed human stem cells into mature insulin-producing cells, a major breakthrough in the effort to develop a cure for type 1 (T1) diabetes. Replacing these cells, which are lost in patients with T1 diabetes, has long been a dream of regenerative medicine, but until now scientists had not been able to figure out how to produce cells in a…

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News • Ornithine Transcarbamylase deficiency

OTC deficiency: First patient benefits from gene therapy trial

A patient at the Queen Elizabeth Hospital Birmingham (QEHB) was the first person in the world to take part in a pioneering gene therapy trial for Ornithine Transcarbamylase (OTC) deficiency, a rare disease that causes toxic levels of ammonia to build up in the blood. Simon Smith, 45, was diagnosed with OTC deficiency as a teenager. Although he defied medical expectations by living a full life in…

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News • Pediatrics

Predicting the aneurysm risk for kids with Kawasaki disease

When Olivia Nelson was 3 years old, her parents noticed that she had a fever that wouldn’t get better. They brought her to a nearby hospital, where she spent about two weeks being screened for diseases. As doctors tried to find a diagnosis, a lymph node on Olivia’s neck became swollen. Alarmed and wanting an answer, the Nelsons asked to transfer to Seattle Children’s. “It was very…

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News • DMD & rhabdomyosarcoma

Duchenne muscular dystrophy: Muscle stem cells can drive cancer

People with Duchenne muscular dystrophy (DMD) can develop an otherwise-rare muscle cancer, called rhabdomyosarcoma, due to the muscle cells’ continuous work to rebuild the damaged tissue. However, little is known about how the cancer arises, hindering development of a treatment or test that could predict cancer risk. Now, scientists from Sanford Burnham Prebys Medical Discovery Institute (SBP)…

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Article • 'Is it safe?'

Effective communication on radiation risks

Communicating radiation risks is not only a legal requirement, it is also a moral obligation, asserts Dr Shane J Foley, radiographer and assistant professor at the UCD School of Medicine in Dublin, Ireland. Passing on radiation information has its pitfalls, but several helpful tools can improve communication, some of which the expert highlighted during ECR 2018.

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News • Hypotrichosis

Hair loss? This gene might be to blame

Hypotrichosis simplex leads to progressive hair loss already in childhood. A team of researchers led by human geneticists at the University Hospital of Bonn has now deciphered a new gene that is responsible for this rare form of hair loss. Changes in the LSS gene lead to impairment of an important enzyme that has a crucial function in cholesterol metabolism. The scientists now present their…

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Article • ‘It will be worthy and cost effective’

Belgium sets up a DX pathology platform

As in many other countries, Belgium faces a significant shortage of health professionals – particularly pathologists to guarantee the diagnostic quality necessary for adequate therapeutic choice. A digital pathology platform can be a true ally; the Brussels Erasmus Hospital opted for that solution. Project manager Dr Ali Ramadhan shared his experience – the good, the bad and the ugly – at…

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News • Morbus Charcot-Marie-Tooth

CMT: Unlikely ally against deadly neuropathy

Charcot-Marie-Tooth (CMT) disease is the most common hereditary neuropathy and affects more than two million people worldwide. In Germany, at least 30.000 people suffer from CMT which belongs to the class of rare disease. In a close collaboration, researchers at the Max-Planck-Institute for Experimental Medicine and the University Medical Center of Göttingen now hope to use lecithin, a harmless…

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Article • Heard at the 14th ECDP in Helsinki

Digital pathology: Sometimes AI can outperform experts

Machine learning is adding a new dimension to pathology and already outperforming experts during some tasks, according to several speakers at the 14th European Congress on Digital Pathology (ECDP) who revealed up-to-date developments. However, whilst AI is set to herald a new future for digital pathology, Johan Lundin, associated professor for biomedical informatics and research director at the…

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News • Not such a bad egg after all

Daily egg consumption may reduce cardiovascular disease

People who consume an egg a day could significantly reduce their risk of cardiovascular diseases compared with eating no eggs, suggests a study carried out in China, published in the journal Heart. Cardiovascular disease (CVD) is the leading cause of death and disability worldwide, including China, mostly due to ischaemic heart disease and stroke (including both haemorrhagic and ischaemic…

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News • Increasing prevalence

Oral antibiotics may raise risk of kidney stones - especially in kids

Pediatric researchers have found that children and adults treated with some oral antibiotics have a significantly higher risk of developing kidney stones. This is the first time that these medicines have been linked to this condition. The strongest risks appeared at younger ages and among patients most recently exposed to antibiotics. “The overall prevalence of kidney stones has risen by 70…

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Article • Assisting algorithms

Big data advances rare disease diagnosis and cancer therapy

Two major projects feeding on big data and based in Spain have recently come under the spotlight: Mendelian, a tool to expedite rare diseases diagnosis, and Harmony, an EU platform that aims to improve targeted therapy in haematological cancer. Rare diseases affect as many as 6% of the Spanish population. Although this percentage is high, these conditions are individually rare, which complicates…

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Article • GCCA/GBCA safety

Gadolinium @ ECR 2018 – diverse and “disunited”?

Gadolinium-containing/gadolinium-based contrast agents (GCCAs/GBCAs) and their usage was a major topic at ECR 2018. Fuelled by the current debate a number of presentations focused on possible impact, risks and necessities. Some were highly specific, others took a broader view. The only consensus, however, seems to be the need for more research and the focus on safety. Three ECR speakers, Joseph…

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News • Otolaryngology

Treating head and neck cancer — the patient's perspective

Jan Walker, a retired administrative assistant to the superintendent of Boaz City Schools, was getting ready for her regular doctor visit and noticed a lump on her neck. Her primary care physician examined it and determined it was a simple swollen lymph node. Two months later, she began to lose feeling on the right side of her throat and noticed the lump had increased in size. After seeing other…

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News • Fact-checking

Inherited cancer and genetic testing - looking beyond the myths

Cancer is a genetic disease caused by abnormal changes over time to genes that control cell function, typically starting in a single cell (an acquired mutation) and often not linked to an inherited genetic mutation. In other words, most cancers happen by chance. Only about 5 to 10 percent of cancers are due to an inherited genetic mutation, says Monique Lubaton, MGC, CGC, cancer genetic counselor…

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News • ACE inhibitor side effects

Lowering blood pressure comes at a price

The recent ACC/AHA Guidelines have increased the number of patients said to have hypertension by up to 40 percent (new 130/80 mmHg). The international recommendation is to treat hypertension with angiotensin converting enzyme inhibitors (ACEIs). These drugs, however, have significant adverse effects: Often a chronic dry cough leads to patients withdrawing from treatment. On rare occasions, ACEIs…

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News • Award

DZNE researcher receives world’s top Brain Prize

Together with three other neuroscientists Professor Christian Haass, speaker of the German Center for Neurodegenerative Diseases (DZNE) Munich site and Professor at the Ludwig-Maximilians-University of Munich, receives the world’s most valuable prize for brain research. The 2018 Brain Prize, awarded by the Lundbeck Foundation in Denmark, is worth one million Euros. Awarded annually, it…

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News • Neurodegeneration

Exposure to diesel exhaust might inclease ALS risk

People who are frequently exposed to diesel exhaust while on the job may have a higher risk of amyotrophic lateral sclerosis (ALS), and that risk may increase with greater exposure, according to a preliminary study released that will be presented at the American Academy of Neurology’s 70th Annual Meeting in Los Angeles, April 21 to 27, 2018. “There is some suggestion from previous studies of…

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News • Histology in 3D

New staining method enables Nano-CT imaging of tissue samples

To date, examining patient tissue samples has meant cutting them into thin slices for histological analysis. This might now be set to change – thanks to a new staining method devised by an interdisciplinary team from the Technical University of Munich (TUM). This allows specialists to investigate three-dimensional tissue samples using the Nano-CT system also recently developed at TUM. Tissue…

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News • TV vs reality

Grey’s Anatomy may be distorting public expectations of trauma care

The television drama, Grey’s Anatomy, may be giving viewers a false impression of the realities of trauma care, including the speed at which patients recover after sustaining serious injuries, finds research published in the online journal Trauma Surgery & Acute Care Open. Unrealistic expectations of healthcare may be important in an era in which patient satisfaction is a key component of…

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News • Hypoplastic left heart syndrome (HLHS)

Stem cells might be the key to treating rare cardiac defect

Children's Hospital Los Angeles is announcing participation in the first-ever clinical trial using stem cells from umbilical cord blood to delay or even prevent heart failure in children born with a rare congenital heart defect that leaves them with half a heart. The Phase I study is part of a multi-center collaboration dedicated to employing innovative therapies to improve outcomes for children…

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Article • Diverse benefits

Experts present CEUS insights

In April 2016 CEUS received the USA’s FDA approval. This year‘s RSNA Samsung Symposium ‘Contrast-Enhanced Ultrasound (CEUS): Innovations and a Problem-Solving Tool in Clinical Practice’ provided an opportunity to take stock. For European Hospital, Professor André Clevert, Director of the Interdisciplinary Centre for Ultrasound at University Hospital Munich, Germany, describes the current…

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News • Primary ciliary dyskinesia

Molecular roots of genetic lung disease identified

Respiratory infections peak during the winter months, and most people recover within a few weeks. But for those with a rare genetic lung disease, the sniffling, coughing and congestion never end. The tiny hairlike structures called cilia that normally sweep mucus through the airways don’t work properly in people with what’s known as primary ciliary dyskinesia. When the cilia don’t brush…

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News • Animal testing

Can mice really mirror humans when it comes to cancer?

A new Michigan State University study is helping to answer a pressing question among scientists of just how close mice are to people when it comes to researching cancer. The findings, now published in PLOS Genetics, reveal how mice can actually mimic human breast cancer tissue and its genes, even more so than previously thought, as well as other cancers including lung, oral and esophagus.…

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News • Delivery options

Radiosurgery vs. whole-brain radiation in lung cancer patients with multiple brain metastases

Although targeted therapies have produced dramatic advances in our ability to control some types of advanced lung cancer, growth of the disease in the brain remains a major problem. Radiation is often used to treat deposits in the brain, but the best technique to deliver radiation can be controversial. Whole-brain radiation therapy, as its name suggest, treats the entire brain but can be…

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Article • Recognition in new recommendations

MRI’s role in prostate cancer diagnosis

Lars Schimmöller MD, associate professor of radiology at Düsseldorf University Hospital, tackled current diagnosis of prostate cancer (PCa) and addressed tumour detection, staging, active surveillance and recurrence during the Medica Academy session on Imaging Update. He also highlighted how MRI helps improve biopsies and avoid unnecessary surgery in PCa.

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News • Better together

Making diabetes and hypertension management a community activity

Managing diabetes and high blood pressure can feel like a solitary enterprise dependent on relationships with objects (like pills or foods) and activities (like brisk walks or early bedtimes) instead of relationships with people, but a group of West Virginia University researchers is hoping to change that. The National Institutes of Health has awarded $450,000 to Ranjita Misra, a professor of…

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Article • Local and elegant

Extending life with TIPS and TACE

Liver disease is widespread in Germany. It is, in fact, the most common cause of death in patients under the age of 40, with liver cirrhosis, which can develop into liver cancer, playing a major role here. These days, modern, comprehensive treatment concepts are unimaginable without interventional radiology, for liver cirrhosis as well as liver cancer. Prof. Dr. Christian Stroszczynski, Director…

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News • Study

Secrets of Ebola uncovered - in the heart of a devastating outbreak

In a comprehensive and complex molecular study of blood samples from Ebola patients in Sierra Leone, published in Cell Host and Microbe, a scientific team led by the University of Wisconsin–Madison has identified signatures of Ebola virus disease that may aid in future treatment efforts. Conducting a sweeping analysis of everything from enzymes to lipids to immune-system-associated molecules,…

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Interview • AI & EHR

Savana goes data mining

Artificial intelligence (AI) has taken centre stage during the Medica Academy sessions. While talks focus on initiatives made in Germany, European Hospital took a look at Spain and spoke with Ignacio Hernández Medrano, a neurologist recently elected as one of the most influential people in healthcare (HC). At just 34 years old, Medrano has already founded two flagship AI projects, one of which…

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Article • In technology's firm embrace

AI could enhance or disrupt healthcare

Artificial Intelligence (AI) has enormous potential to revolutionise the delivery of healthcare, being able to remove the drudgery’ of routine tasks, join up fragmented care records, trigger alerts when abnormal results occur, speed-up the process of identifying clusters of patients by digging deep into electronic health records, and increase efficiency of healthcare staff resources.

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Interview • Multiresistant pathogens

'Antibiotics don’t generate large profits'

During our European Hospital interview with specialist in microbiology, virology and infection epidemiology Beniam Ghebremedhin MD, from the University Hospital Wuppertal, spoke about the impact of migration on infections, and ways to tackle the problem of multiresistant pathogens. ‘There is a lack of specialists in infectious diseases, for direct patient care on hospital wards as well as in…

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News • ABC4 conference

Delaying breast cancer progression is key to sustain life quality

Patients with advanced breast cancer have a better quality of life for longer if the progression of their disease can be delayed, according to new results presented at the Advanced Breast Cancer Fourth International Consensus Conference (ABC 4) in Lisbon. Professor Nadia Harbeck, head of the Breast Cancer Centre at the University of Munich (Germany), told the meeting that analysis of results from…

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News • Early diagnostics

Sixty-five new genetic risk markers for breast cancer discovered

Until now, familial breast cancer has only partly been linkable to genetic risk markers. In a worldwide joint effort, researchers have now identified further genetic variants that affect the risk for breast cancer. The study, which was conducted with participation of researchers from the German Cancer Research Center (DKFZ) and Heidelberg University Hospital, has now been published in Nature.…

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News • Mortality decrease

Newborns with trisomy 13 or 18 benefit from heart surgery

Heart surgery significantly decreases in-hospital mortality among infants with either of two genetic disorders that cause severe physical and intellectual disabilities, according to a new study by a researcher at the Stanford University School of Medicine and his colleagues at the University of Arkansas for Medical Sciences. Trisomy 13 and 18, which result from having extra chromosomes, often…

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