diagnosis and treatment of rare genetic diseases Archives

Dec292023 by AdminNo Comments

Effects of Changes in Chromosomes on Human Health

Diseases

The human body stores genetic information through chromosomes, one of the basic structural units that carry genetic information. However, changes in these chromosomes can affect an individual's health and cause various genetic diseases. In this article, we will discuss in detail the effects of chromosome abnormalities on human health. From numerical changes such as trisomy and monosomy to structural changes such as deletions and duplications. Changes in Chromosomes and Genetic Structure Human cells contain chromosomes that carry genetic information. Any change in chromosomes affects the genetic structure and causes health problems. Trisomy and Monosomy: Numerical Changes Trisomy refers to the presence of more than normal chromosomes in a chromosome pair. Monosomy represents a ...

Dec292023 by AdminNo Comments

Klinefelter Syndrome: Anomalies in Sex Chromosomes

Special Psychology

Klinefelter syndrome is a genetic disorder and is usually seen in male individuals. This syndrome is characterized by one or both of the individual's sex chromosomes having a different structure than normal. Deviation of genetic material from normal results in a variety of effects, from physical characteristics to language and learning abilities. In this article, we will examine this syndrome in detail. What is Klinefelter Syndrome? Klinefelter syndrome is a genetic condition that usually occurs in men. In this syndrome, one or both of the individual's sex chromosomes have a different structure than normal. XXY Chromosome Structure: Genetic Anomaly Individuals with this syndrome usually have an XXY chromosome structure instead of an XY sex chromosome. This condition is associa...

Dec282023 by AdminNo Comments

Chromosomal Diseases Caused by Genetic Anomalies

Diseases

Genetic anomalies cover a range of conditions that refer to abnormalities in the genetic material of individuals. These anomalies usually occur in chromosomes and cause various genetic diseases. Chromosomal diseases occur as a result of changes in the structure or number of genetic material. They can affect individuals' quality of life. In this article, we will examine in detail the mechanisms, symptoms and effects of genetic anomalies, especially those that lead to chromosomal diseases. What are Genetic Anomalies and Chromosomal Diseases? Genetic anomalies refer to abnormalities that occur in the genetic material of individuals. These anomalies usually occur in chromosomes and lead to various chromosomal diseases. Trisomy and Monosomy: Changes in the Number of Chromosomes Tr...

Dec282023 by AdminNo Comments

What is Down Syndrome?

Special Psychology

Down syndrome is a genetic disorder characterized by the presence of three chromosomes in the 21st chromosome pair of individuals instead of the normal two. Down Syndrome Frequency and Genetic Origin This syndrome is seen in one in every 700-800 births worldwide. It is usually caused by a genetic error in the mother's egg or the father's sperm. Physical Symptoms and Features Individuals with this syndrome often have distinctive features on the face. These features include features such as a curvy structure, low muscle tone, and a small and round face shape. Mental and Developmental Symptoms Intellectual and developmental delays are common in individuals with Down syndrome. Learning disabilities, delays in language development, and difficulties with motor skills are among...

Dec182023 by AdminNo Comments

What are Rare Cancers?

Diseases

Rare cancers, as the name suggests, refer to a group of malignancies that occur rarely in the general population. These less common types of cancer, also known as orphan cancers, present unique challenges in diagnosis and treatment. In this article, we will explore what makes a cancer rare. We will examine the distinctive features that distinguish them from more common forms of the disease. Definition of Rare Cancers: These cancers are characterized by low incidence rates, usually affecting a small percentage of the population. There is no universal threshold for what is rare. These cancers are generally considered rare cancers due to their limited incidence. Rare cancers that are different from well-known cancers, such as breast or lung cancer. They cover a wide range of malignanci...

Oct272023 by AdminNo Comments

Rare Infectious Diseases: Diagnosing and Managing

Diseases

Infectious diseases are an ever-evolving and changing field of medicine. Scientists and healthcare professionals may encounter common pathogens as well as rare and unknown pathogens. These rare infectious diseases can present special challenges in diagnosis and treatment. This article will provide detailed information about the diagnosis and management of rare infectious diseases. Diagnosis of Rare Infectious Diseases 1. Diagnosis of Genetic and Unknown Diseases Many rare infectious diseases are based on genetic factors and can lead to rare syndromes. Genetic tests, analysis of tissue samples and evaluation of family history are important in the diagnosis of such diseases. Additionally, molecular techniques and advanced imaging methods can be used in the diagnosis of infections o...

Oct252023 by Admin1 Comment

Preventive Healthcare

Health

Preventive healthcare focus on disease prevention, early diagnosis and intervention. It is a proactive approach to protecting and improving health. Preventive health services do not only treat diseases. It emphasizes adopting healthy lifestyles, getting routine screenings and vaccinations, and actively managing risk factors. In this article, we will discuss the importance of preventive health services. We will explain the benefits of preventive practices and the basic components of preventive health services. And we will try to highlight strategies for the implementation of preventive measures. Individuals can take control of their well-being by prioritizing preventive health services. They can reduce the burden of chronic diseases and have a higher quality of life. Benefits of Prev...

Oct242023 by AdminNo Comments

The Role of Genetic Factors in Disease Development

Diseases

Genetic factors are one of the key components that have a significant impact on an individual's health. Genes regulate a person's bodily functions, determine their physical characteristics, and potentially affect their susceptibility to disease. In this article, we will examine the role of genetic factors in disease development. The impact of genetic factors on disease development is a complex concept. It will be explained through both monogenic diseases and polygenic diseases. Monogenic Diseases and Genetic Predisposition Monogenic diseases are diseases in which a single genetic change (mutation) causes the development of a disease. Examples of such diseases include cystic fibrosis, sickle cell anemia, and Huntington's disease. The development of these diseases depends on the prese...

Oct12023 by Admin1 Comment

Rare Genetic Diseases: Diagnosis and Treatment Problems

Diseases

Rare genetic diseases affect a small patient population worldwide. They are conditions that have a genetic basis and often lead to serious health problems. In this article, we will discuss the difficulties encountered in the diagnosis and treatment of rare genetic diseases. We will examine the progress in this field. Diagnosing and treating rare genetic diseases can be a huge challenge for both patients and healthcare professionals. I. Diagnostic Challenges Heterogeneity: Rare genetic diseases have great heterogeneity. The fact that the same disease can occur with different symptoms in different individuals complicates accurate diagnosis. Diagnostic Delays: Symptoms of rare diseases can often be confused with symptoms of other common diseases. Therefore, long periods may be...