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Pompe disease
The Pompe disease, also known as type II glycogen storage disease, is an autosomal recessive metabolic disorder that particularly affects muscle tissue and nerve cells. This disease leads to the pathological accumulation of glycogen in the lysosomes, caused by the low activity of the lysosomal acid α-glucosidase enzyme. As a result of Pompe disease, cells are unable to properly break down glycogen, which affects the functioning of various organs. Lysosomes are specialized membrane-bound vesicles found in living cells that contain various enzymes. These enzymes are responsible for the breakdown of different molecules, including lipids, carbohydrates, proteins, and nucleic acids. Due to their acidic environment, lysosomes can effectively carry out degradation…
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Parkinson’s Disease – A New Risk Factor Discovered
A Parkinson’s disease is a neurodegenerative disorder that affects the central nervous system and causes several symptoms that significantly impact the quality of life of those affected. The causes of the disease have been researched for a long time, and the scientific community increasingly identifies the role of environmental and genetic factors. In recent years, several studies have addressed various risk factors, paying particular attention to pesticides and their effects. During the research, numerous chemicals were analyzed, and it was found that certain pesticides, such as DDT, pose a particularly high risk. Additionally, genetic background plays a key role, as the presence of certain gene variants may increase the likelihood…
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Recent Developments in Neuropathy Diagnosis – The Gray Version 256
The importance of neuropathic diseases and their diagnostic possibilities is increasingly recognized in modern medicine. The functioning and health of peripheral nerves are crucial for the proper operation of the human body, as they provide communication between the central nervous system and the rest of the body. Due to the complex structure and functioning of the nervous system, diagnosing neuropathic problems is a challenging task. However, with today’s medical technologies and research, more and more options are available for recognizing and treating such disorders. Understanding the Diagnosis of Neuropathies To understand the diagnosis of neuropathies, it is essential to know the anatomy of the nerves. The peripheral nerves branch out…
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Homegrown artificial intelligence supports breast cancer screening
Az emlőrák korai felismerése napjaink egyik legfontosabb egészségi kihívása, amelyre a modern orvostudomány folyamatosan keresi a megoldásokat. Az új technológiák, különösen a mesterséges intelligencia (MI) alkalmazása forradalmasíthatja a szűrési folyamatokat, lehetővé téve a daganatok korai észlelését olyan stádiumban, amikor azok még nem láthatóak a hagyományos képalkotó eljárások során. E fejlődés célja nemcsak a diagnózis pontosságának javítása, hanem a páciensek életminőségének növelése is, hiszen a korai felfedezés számos esetben életmentő lehet. A mesterséges intelligencia szerepe az emlőrák szűrésében Mesterséges intelligencia és emlőrák szűrés A mesterséges intelligencia alkalmazása az emlőrák szűrésében jelentős előnyöket kínál. Olyan jelek észlelésére képes, amelyeket az orvosok esetleg figyelmen kívül hagynának, így növelve a rák korai felismerésének esélyeit.…
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The signs and therapeutic options of sarcoidosis
Sarcoidosis is a complex, benign disease that can cause various lesions in the tissues of the body. The condition often remains hidden and is frequently discovered accidentally, for example, during imaging examinations. Sarcoidosis can develop in a variety of ways, and the chances of recovery also differ. Although the disease often resolves spontaneously in many cases, more severe forms can lead to organ failures, which can even result in death. This disease process is particularly difficult to predict, making it challenging to develop treatment strategies. The diagnosis can often come as a surprise to patients, as approximately 30% of diagnosed cases require treatment. Sarcoidosis most commonly occurs in young adults,…
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Complaints that make seeking medical help important even during the pandemic!
The global health system has faced significant challenges since the onset of the pandemic. The drastic reduction in doctor-patient interactions has become inevitable to minimize the risk of infection spread, but this has also raised numerous issues. Patient care, especially in chronic and urgent cases, has been disadvantaged in many instances. To protect healthcare staff and patients, reducing the number of contacts is essential, but this not only aims to curb the spread of the virus but also complicates the management of existing health problems. Many specialties and hospital departments are concentrating on emergency care, which means that non-life-threatening cases are often sidelined. Outpatient clinics, imaging diagnostics, and laboratory tests…
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Headaches and Neurological Examinations in Hungary
A headache is a common and often distressing problem that can arise from various causes. Migraines, tension headaches, and other types require different treatment methods. For proper diagnosis and treatment, it is important for patients to seek specialist help. In Hungary, numerous institutions offer specialized outpatient services where doctors specializing in headaches and migraines are ready to assist patients. These institutions aim to provide effective, personalized treatment options for patients. To increase awareness of the different forms of headaches and their treatment options, a list of available specialized outpatient services for patients is of paramount importance. Thorough examinations conducted by professionals and the establishment of accurate diagnoses are essential for…
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New Progress Expected in the Treatment of Dental Infections
Dental inflammations, especially pulpitis, cause significant discomfort in the lives of many people. During pulpitis, the tissues inside the tooth—including nerves and blood vessels—become inflamed, resulting in very intense, throbbing pain. This pain is often difficult to alleviate and, in many cases, may require serious interventions such as root canal treatment. Therefore, managing pulpitis is crucial for dental health. To understand the inflammatory processes and their effective treatment, researchers at the University of Debrecen have conducted in-depth investigations. The research focused on an ion channel called TRPA1, which plays a significant role in pain perception. This research may open new perspectives in the treatment of dental inflammations, and we hope…
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The Role of Down Syndrome in the Fight Against Cancer
The world of scientific research is constantly producing new discoveries that lead to a better understanding and treatment of various diseases. Cancer, as one of the most complex and widespread diseases, has always been at the center of attention. A particularly interesting question is why certain individuals, such as those with Down syndrome, suffer less frequently from certain cancers. Down syndrome is characterized by an extra copy of chromosome 21, which exerts various genetic effects on the body. Recent research has highlighted that the unique genes on chromosome 21 may provide potential protection against certain cancers. Discoveries by scientists could open new directions in cancer treatments and offer hope to…
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Therapeutic Alternatives for Mastocytosis
Mastocytosis is a disease characterized by an increased number of mast cells. These cells play a key role in the immune response, but when they proliferate excessively, they can lead to various health problems. The manifestations of the disease can be diverse and often have serious consequences, making it important for patients to pay attention to their symptoms and seek medical advice in a timely manner. This disease can affect not only physical well-being but also mental health, as chronic symptoms and unpredictable reactions can create stressful situations. The diagnosis and treatment of mastocytosis is a complex process that requires thorough medical investigation. Accurate expression of patient complaints and detailed…
